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
PPP1R3D	5509	broad.mit.edu	37	20	58514630	58514630	+	Silent	SNP	G	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr20:58514630G>A	uc002ybb.3	-	0	723	c.357C>T	c.(355-357)ttC>ttT	p.F119F	FAM217B_uc002yba.3_Intron|FAM217B_uc002ybc.3_5'Flank|FAM217B_uc010zzx.2_5'Flank	NM_006242	NP_006233	O95685	PPR3D_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 3D (PPP1R3D), mRNA.	119					glycogen metabolic process		protein binding|protein serine/threonine phosphatase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|urinary_tract(1)	13	all_lung(29;0.00391)		BRCA - Breast invasive adenocarcinoma(7;5.12e-09)			CTCCCGCGTTGAACACCTTGA	0.706000														26			7		0	0	8.12818e-05	0	0
GALNT4	8693	broad.mit.edu	37	12	89853418	89853418	+	Silent	SNP	G	C	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr12:89853418G>C	uc001tbc.3	-	9	1477	c.1110C>G	c.(1108-1110)acC>acG	p.T370T	GALNT4_uc001tba.3_Silent_p.T328T|GALNT4_uc001tbb.3_Silent_p.T240T|GALNT4_uc010sun.2_Non-coding_Transcript|GALNT4_uc009zsp.3_Non-coding_Transcript|GALNT4_uc009zsq.3_Non-coding_Transcript	NM_172240	NP_001186706	Q8N4A0	GALT4_HUMAN	Homo sapiens POC1 centriolar protein homolog B (Chlamydomonas) (POC1B), transcript variant 1, mRNA.	0					carbohydrate metabolic process	Golgi membrane|integral to membrane|perinuclear region of cytoplasm	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			endometrium(4)|kidney(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)	14						GACTTACTGTGGTAGAATCAA	0.323000														29			4		0	0	0.00024832	0	0
COPS2	9318	broad.mit.edu	37	15	49420924	49420924	+	Silent	SNP	A	G	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr15:49420924A>G	uc001zxh.3	-	11	1262	c.1183T>C	c.(1183-1185)Ttg>Ctg	p.L395L	COPS2_uc001zxf.3_Silent_p.L388L|COPS2_uc010ufa.2_Silent_p.L324L	NM_001143887	NP_001137359	P61201	CSN2_HUMAN	Homo sapiens COP9 constitutive photomorphogenic homolog subunit 2 (Arabidopsis) (COPS2), transcript variant 2, mRNA.	388	PCI.				cullin deneddylation|transcription from RNA polymerase II promoter	cytoplasm|signalosome	protein binding|signal transducer activity	p.L394F(1)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|prostate(1)|skin(2)	18		all_lung(180;0.0428)		all cancers(107;1.34e-07)|GBM - Glioblastoma multiforme(94;3.02e-05)		TGCACCAGCAAGCTCTCCACA	0.299000														223			35		0	0	0.000374591	0	0
CLSTN3	9746	broad.mit.edu	37	12	7289700	7289700	+	Missense_Mutation	SNP	C	G	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr12:7289700C>G	uc001qss.3	+	5	1778	c.1240C>G	c.(1240-1242)Cag>Gag	p.Q414E	CLSTN3_uc001qsr.3_Missense_Mutation_p.Q402E	NM_014718	NP_055533	Q9BQT9	CSTN3_HUMAN	Homo sapiens calsyntenin 3 (CLSTN3), mRNA.	402					homophilic cell adhesion	Golgi membrane|endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1)	33						TAACACTGTCCAGAATGGTGA	0.547000														50			4		0	0	3.59834e-05	0	0
SDHAP2	727956	broad.mit.edu	37	3	195400795	195400795	+	Missense_Mutation	SNP	C	T	T	rs7615357	by1000genomes	TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr3:195400795C>T	uc003fuw.3	+	8	1285	c.91C>T	c.(91-93)Cgc>Tgc	p.R31C	SDHAP2_uc011btb.1_Missense_Mutation_p.S178L|SDHAP2_uc011btc.1_Non-coding_Transcript|SDHAP2_uc003fuv.3_Non-coding_Transcript					Homo sapiens succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 2 (SDHAP2), non-coding RNA.																		GGGGCAAACTCGCTGTTGGAC	0.592000														37			5		0	0	0.000157383	0	0
CSGALNACT2	55454	broad.mit.edu	37	10	43659338	43659338	+	Silent	SNP	C	T	T	rs78146682	by1000genomes	TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr10:43659338C>T	uc001jan.3	+	4	1340	c.1005C>T	c.(1003-1005)acC>acT	p.T335T		NM_018590	NP_061060	Q8N6G5	CGAT2_HUMAN	Homo sapiens chondroitin sulfate N-acetylgalactosaminyltransferase 2 (CSGALNACT2), mRNA.	335					chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process	Golgi cisterna membrane|integral to Golgi membrane	glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding	p.T335T(6)		endometrium(12)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						ACAATTACACCTTGGTCTCAT	0.403000														53			6		0	0	0.000274275	0	0
LRRC1	55227	broad.mit.edu	37	6	53761345	53761345	+	Missense_Mutation	SNP	C	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr6:53761345C>A	uc003pcd.1	+	4	1017	c.496C>A	c.(496-498)Ctt>Att	p.L166I		NM_018214	NP_060684	Q9BTT6	LRRC1_HUMAN	Homo sapiens leucine rich repeat containing 1 (LRRC1), mRNA.	166						cytoplasm|membrane				cervix(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20	Lung NSC(77;0.0147)			BRCA - Breast invasive adenocarcinoma(397;0.0745)		TCTTACATATCTTCCTGAGTG	0.333000														159			8		1.08611e-07	2.07547e-06	6.40141e-05	1	0
EPM2AIP1	9852	broad.mit.edu	37	3	37033458	37033458	+	Missense_Mutation	SNP	G	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr3:37033458G>T	uc003cgk.3	-	0	1338	c.1111C>A	c.(1111-1113)Cac>Aac	p.H371N	MLH1_uc011aye.2_5'Flank|MLH1_uc003cgl.3_5'Flank|MLH1_uc011ayb.2_5'Flank|MLH1_uc010hge.3_5'Flank|MLH1_uc011ayc.2_5'Flank|MLH1_uc011ayd.2_5'Flank|MLH1_uc003cgo.3_5'Flank|MLH1_uc003cgn.4_5'Flank	NM_014805	NP_055620	Q7L775	EPMIP_HUMAN	Homo sapiens EPM2A (laforin) interacting protein 1 (EPM2AIP1), mRNA.	371						endoplasmic reticulum		p.H371N(2)		breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(12)|ovary(2)	27						TCTGAGAAGTGGACTGTTGTT	0.393000														379			16		0.000375601	0.00523297	0.000375601	1	0
CNTN5	53942	broad.mit.edu	37	11	99827608	99827608	+	Silent	SNP	C	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr11:99827608C>T	uc001pga.3	+	7	1248	c.744C>T	c.(742-744)tcC>tcT	p.S248S	CNTN5_uc009ywv.2_Silent_p.S248S|CNTN5_uc001pfz.3_Silent_p.S248S|CNTN5_uc021qpb.1_Silent_p.S248S|CNTN5_uc021qpc.1_Silent_p.S174S	NM_014361	NP_055176	O94779	CNTN5_HUMAN	Homo sapiens contactin 5 (CNTN5), transcript variant 1, mRNA.	248	Ig-like C2-type 2.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		GGTTCATCTCCCAGGAGACAG	0.418000														85			9		0	0	0.000274275	0	0
FAM126B	285172	broad.mit.edu	37	2	201857033	201857033	+	Missense_Mutation	SNP	G	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr2:201857033G>T	uc002uws.4	-	9	990	c.802C>A	c.(802-804)Cag>Aag	p.Q268K	FAM126B_uc002uwu.3_Missense_Mutation_p.Q186K|FAM126B_uc002uwv.3_Missense_Mutation_p.Q268K	NM_173822	NP_776183	Q8IXS8	F126B_HUMAN	Homo sapiens family with sequence similarity 126, member B (FAM126B), mRNA.	268						intracellular				endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16						AGCTCTAGCTGGGCTCTATAA	0.333000														159			8		0.000442599	0.00580232	0.000442599	1	0
TTF1	7270	broad.mit.edu	37	9	135271884	135271884	+	Missense_Mutation	SNP	G	C	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr9:135271884G>C	uc004cbl.3	-	4	1861	c.1792C>G	c.(1792-1794)Cgg>Ggg	p.R598G	TTF1_uc004cbm.3_Missense_Mutation_p.R83G|TTF1_uc011mcp.2_Non-coding_Transcript	NM_007344	NP_031370	Q15361	TTF1_HUMAN	Homo sapiens transcription termination factor, RNA polymerase I (TTF1), transcript variant 1, mRNA.	598					negative regulation of DNA replication|regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription	nucleolus|nucleoplasm	DNA binding			endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)		TTCCAGGGCCGGGCAATGTTC	0.403000														67			5		0	0	3.59834e-05	0	0
RAD52	5893	broad.mit.edu	37	12	1036405	1036405	+	Missense_Mutation	SNP	C	A	A	rs77010242		TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr12:1036405C>A	uc001qis.1	-	5	487	c.373G>T	c.(373-375)Ggt>Tgt	p.G125C	RAD52_uc001qit.1_Non-coding_Transcript|RAD52_uc010sdt.1_Missense_Mutation_p.G48C|RAD52_uc001qiu.1_Missense_Mutation_p.G125C|RAD52_uc001qiv.1_Non-coding_Transcript|RAD52_uc001qiw.1_Intron|RAD52_uc010sdu.1_Missense_Mutation_p.G125C|RAD52_uc001qix.1_Missense_Mutation_p.G125C	NM_134424	NP_602296	P43351	RAD52_HUMAN	Homo sapiens RAD52 homolog (S. cerevisiae) (RAD52), mRNA.	125					DNA recombinase assembly|mitotic recombination|reciprocal meiotic recombination	nucleoplasm	DNA binding|protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	all_cancers(10;0.0119)|all_epithelial(11;0.0171)|all_lung(10;0.0521)|Ovarian(42;0.0816)|Lung NSC(10;0.0987)		OV - Ovarian serous cystadenocarcinoma(31;0.00123)|BRCA - Breast invasive adenocarcinoma(9;0.0323)			ACACCATAACCAACATCTTCA	0.542000								Homologous recombination						226			10		2.31682e-05	0.000392345	0.000308642	1	0
PCDHB4	56131	broad.mit.edu	37	5	140501710	140501710	+	Missense_Mutation	SNP	G	T	T	rs77188774	byFrequency	TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr5:140501710G>T	uc003lip.1	+	0	130	c.130G>T	c.(130-132)Gta>Tta	p.V44L		NM_018938	NP_061761	Q9Y5E5	PCDB4_HUMAN	Homo sapiens protocadherin beta 4 (PCDHB4), mRNA.	44	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGGCTCCTTTGTAGCCCATCT	0.552000														111			6		0.000442599	0.00580232	0.000442599	1	0
CYP4Z1	199974	broad.mit.edu	37	1	47560260	47560260	+	Silent	SNP	G	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:47560260G>A	uc001cqu.1	+	6	798	c.795G>A	c.(793-795)aaG>aaA	p.K265K		NM_178134	NP_835235	Q86W10	CP4Z1_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily Z, polypeptide 1 (CYP4Z1), mRNA.	265						endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			cervix(1)|large_intestine(4)|lung(4)|skin(1)|stomach(1)	11						AGGACCGGAAGGAGTCTCTTA	0.368000														67			6		0	0	0.000157383	0	0
WHAMMP3	339005	broad.mit.edu	37	15	23205183	23205183	+	RNA	SNP	G	C	C	rs143369458	by1000genomes	TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr15:23205183G>C	uc001yvg.3	-	1		c.612C>G			WHAMMP3_uc010ayc.3_Non-coding_Transcript|WHAMMP3_uc010ayd.3_Non-coding_Transcript|WHAMMP3_uc010aye.1_Non-coding_Transcript					Homo sapiens WAS protein homolog associated with actin, golgi membranes and microtubules pseudogene 3 (WHAMMP3), non-coding RNA.																		TTGGCTTTTCGGTGTCCTTGA	0.403000														20			4		0	0	0.00024832	0	0
HEATR3	55027	broad.mit.edu	37	16	50136244	50136244	+	Silent	SNP	C	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr16:50136244C>A	uc002efw.3	+	13	1980	c.1818C>A	c.(1816-1818)gcC>gcA	p.A606A	HEATR3_uc002efx.3_Silent_p.A520A|HEATR3_uc021thw.1_Silent_p.A148A	NM_182922	NP_891552	Q7Z4Q2	HEAT3_HUMAN	Homo sapiens HEAT repeat containing 3 (HEATR3), mRNA.	606							binding			cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						CTTTGGATGCCCTCTTTGATG	0.398000														168			8		0.000442599	0.00580232	0.000442599	1	0
PTPRF	5792	broad.mit.edu	37	1	44069168	44069168	+	Missense_Mutation	SNP	C	G	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:44069168C>G	uc001cjr.3	+	14	2762	c.2422C>G	c.(2422-2424)Cgc>Ggc	p.R808G	PTPRF_uc001cjs.3_Missense_Mutation_p.R799G|PTPRF_uc001cju.3_Missense_Mutation_p.R379G|PTPRF_uc009vwt.3_Missense_Mutation_p.R370G|PTPRF_uc001cjv.3_Missense_Mutation_p.R268G|PTPRF_uc001cjw.3_Missense_Mutation_p.R34G	NM_002840	NP_002831	P10586	PTPRF_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, F (PTPRF), transcript variant 1, mRNA.	808	Fibronectin type-III 5.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	p.T807I(1)		NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GGATGGTGCCCGCAGCAAGCC	0.627000														77			5		0	0	0.000602214	0	0
WDR60	55112	broad.mit.edu	37	7	158704364	158704364	+	Silent	SNP	C	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr7:158704364C>A	uc003woe.4	+	11	1742	c.1584C>A	c.(1582-1584)acC>acA	p.T528T	WDR60_uc010lqv.3_Non-coding_Transcript|WDR60_uc010lqw.3_Silent_p.T160T	NM_018051	NP_060521	Q8WVS4	WDR60_HUMAN	Homo sapiens WD repeat domain 60 (WDR60), mRNA.	528										NS(3)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(4)|lung(16)|ovary(2)	35	Ovarian(565;0.152)	all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18)		AAAAAAATACCAAGCAGGTAA	0.323000														198			12		0.000151284	0.00233702	0.000151284	1	0
CDRT15	146822	broad.mit.edu	37	17	14140102	14140102	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr17:14140102C>T	uc010vvu.2	-	0	49	c.49G>A	c.(49-51)Gga>Aga	p.G17R		NM_001007530	NP_001007531	Q96T59	CDRTF_HUMAN	Homo sapiens CMT1A duplicated region transcript 15 (CDRT15), mRNA.	17										endometrium(2)|large_intestine(1)|lung(2)|prostate(1)	6				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)		TCACTCCCTCCATTCCTGAAG	0.562000														54			7		0	0	0.000274275	0	0
FASN	2194	broad.mit.edu	37	17	80045273	80045273	+	Missense_Mutation	SNP	G	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr17:80045273G>T	uc002kdu.3	-	19	3268	c.3151C>A	c.(3151-3153)Cgt>Agt	p.R1051S	FASN_uc002kdw.1_Missense_Mutation_p.R267S	NM_004104	NP_004095	P49327	FAS_HUMAN	Homo sapiens fatty acid synthase (FASN), mRNA.	1051					energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	Golgi apparatus|cytosol|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)	GCGGTGACACGGGTGGGCAGG	0.642000														53			4		0.000157383	0.00233702	0.000157383	1	0
KLHL15	80311	broad.mit.edu	37	X	24006591	24006591	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chrX:24006591C>T	uc004dba.4	-	3	1518	c.1262G>A	c.(1261-1263)gGg>gAg	p.G421E		NM_030624	NP_085127	Q96M94	KLH15_HUMAN	Homo sapiens kelch-like 15 (Drosophila) (KLHL15), mRNA.	421										autonomic_ganglia(1)|breast(1)|endometrium(8)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)	22						GAGCACTGTCCCCTCATGTCC	0.428000														157			24		0	0	0.000295444	0	0
SLC5A2	6524	broad.mit.edu	37	16	31500246	31500246	+	Silent	SNP	C	G	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr16:31500246C>G	uc002ecf.4	+	10	1345	c.1326C>G	c.(1324-1326)ccC>ccG	p.P442P	SLC5A2_uc010car.3_Intron|C16orf58_uc002ecg.3_Non-coding_Transcript	NM_003041	NP_003032	P31639	SC5A2_HUMAN	Homo sapiens solute carrier family 5 (sodium/glucose cotransporter), member 2 (SLC5A2), mRNA.	442					carbohydrate metabolic process	integral to membrane	low-affinity glucose:sodium symporter activity	p.P442P(2)		endometrium(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	25						CCTGGCTTCCCGTGGTGCAGG	0.682000														51			3		0	0	3.59834e-05	0	0
TFIP11	24144	broad.mit.edu	37	22	26899725	26899725	+	Missense_Mutation	SNP	C	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr22:26899725C>A	uc003acr.2	-	5	929	c.555G>T	c.(553-555)aaG>aaT	p.K185N	TFIP11_uc003acs.2_Missense_Mutation_p.K185N|TFIP11_uc003act.2_Missense_Mutation_p.K185N	NM_012143	NP_036275	Q9UBB9	TFP11_HUMAN	Homo sapiens tuftelin interacting protein 11 (TFIP11), transcript variant 2, mRNA.	185	G-patch.				biomineral tissue development	catalytic step 2 spliceosome|cytoplasm|nuclear speck	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	25						CACCTTTTCCCTTTCTCTGCT	0.458000														88			7		0.000442599	0.00580232	0.000442599	1	0
TDRD6	221400	broad.mit.edu	37	6	46663583	46663583	+	Silent	SNP	G	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr6:46663583G>A	uc003oyj.3	+	1	6326	c.6072G>A	c.(6070-6072)ctG>ctA	p.L2024L	TDRD6_uc010jze.3_Silent_p.L2024L	NM_001010870	NP_001010870	O60522	TDRD6_HUMAN	Homo sapiens tudor domain containing 6 (TDRD6), transcript variant 1, mRNA.	2024					cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			CCTACACTCTGAAAGCCTTTA	0.368000														133			34		0	0	0.00058488	0	0
YEATS4	8089	broad.mit.edu	37	12	69764527	69764527	+	Silent	SNP	C	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr12:69764527C>A	uc001sux.3	+	4	596	c.375C>A	c.(373-375)acC>acA	p.T125T		NM_006530	NP_006521	O95619	YETS4_HUMAN	Homo sapiens YEATS domain containing 4 (YEATS4), mRNA.	125	YEATS.				histone H2A acetylation|histone H4 acetylation|mitosis|positive regulation of transcription, DNA-dependent|regulation of growth	NuA4 histone acetyltransferase complex|nuclear matrix	DNA binding|protein C-terminus binding|sequence-specific DNA binding transcription factor activity|structural constituent of cytoskeleton			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(1)	5	all_epithelial(5;9.25e-35)|Breast(13;9.83e-07)|Esophageal squamous(21;0.187)		Epithelial(6;6.89e-18)|BRCA - Breast invasive adenocarcinoma(5;3.14e-09)|Lung(24;9.68e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|OV - Ovarian serous cystadenocarcinoma(12;0.00691)|STAD - Stomach adenocarcinoma(21;0.0151)|LUSC - Lung squamous cell carcinoma(43;0.24)|Kidney(9;0.241)			AATCAGACACCAATGCAATGC	0.338000														82			7		0.000673444	0.00850193	0.000673444	1	0
DOCK11	139818	broad.mit.edu	37	X	117722243	117722244	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chrX:117722243_117722244CC>TT	uc004eqp.2	+	16	2002_2003	c.1939_1940CC>TT	c.(1939-1941)ccc>TTc	p.P647F	DOCK11_uc004eqq.2_Missense_Mutation_p.P413F	NM_144658	NP_653259	Q5JSL3	DOC11_HUMAN	Homo sapiens dedicator of cytokinesis 11 (DOCK11), mRNA.	647	DHR-1.				blood coagulation	cytosol	GTP binding	p.P647L(2)		breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						GTATGTATATCCCCTGCAATTA	0.297000														115			7		0	0	6.4e-05	0	0
SNX32	254122	broad.mit.edu	37	11	65618233	65618233	+	Silent	SNP	G	C	C	rs139718551	byFrequency	TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr11:65618233G>C	uc001ofr.3	+	5	637	c.510G>C	c.(508-510)cgG>cgC	p.R170R		NM_152760	NP_689973	Q86XE0	SNX32_HUMAN	Homo sapiens sorting nexin 32 (SNX32), mRNA.	170					cell communication|protein transport		phosphatidylinositol binding			endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				READ - Rectum adenocarcinoma(159;0.171)		TGAGTGTCCGGGGGAAGAACA	0.592000														43			4		0	0	3.59834e-05	0	0
DCAF12	25853	broad.mit.edu	37	9	34125095	34125095	+	Missense_Mutation	SNP	C	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr9:34125095C>A	uc003ztt.2	-	1	601	c.259G>T	c.(259-261)Ggg>Tgg	p.G87W		NM_015397	NP_056212	Q5T6F0	DCA12_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 12 (DCAF12), mRNA.	87						CUL4 RING ubiquitin ligase complex|centrosome				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)	11						TTAAGGGTCCCAAGGTGAAAC	0.493000														94			6		0.000442599	0.00580232	0.000442599	1	0
ARHGEF5	7984	broad.mit.edu	37	7	144060770	144060770	+	Silent	SNP	T	C	C	rs141931104	by1000genomes	TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr7:144060770T>C	uc003wel.3	+	1	1126	c.1008T>C	c.(1006-1008)aaT>aaC	p.N336N	ARHGEF5_uc003wek.3_Silent_p.N336N	NM_005435	NP_005426	Q12774	ARHG5_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 5 (ARHGEF5), mRNA.	336					intracellular signal transduction|regulation of Rho protein signal transduction	intracellular	GTP binding|Rho guanyl-nucleotide exchange factor activity|protein binding	p.N336N(10)		breast(1)|endometrium(6)|kidney(8)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Melanoma(164;0.14)					CAGAAGAGAATAGGGCGGACT	0.512000														212			7		0	0	0.000219431	0	0
SCIN	85477	broad.mit.edu	37	7	12692309	12692310	+	Nonsense_Mutation	DNP	GG	AA	AA			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr7:12692309_12692310GG>AA	uc003ssn.4	+	15	2327_2328	c.2117_2118GG>AA	c.(2116-2118)tgg>tAA	p.W706*	SCIN_uc010ktt.3_Non-coding_Transcript|SCIN_uc003sso.4_Nonsense_Mutation_p.W459*	NM_001112706	NP_149119	Q9Y6U3	ADSV_HUMAN	Homo sapiens scinderin (SCIN), transcript variant 1, mRNA.	706	Ca(2+)-dependent actin binding.				actin filament capping|actin filament severing|actin nucleation|calcium ion-dependent exocytosis|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of megakaryocyte differentiation|positive regulation of secretion|regulation of chondrocyte differentiation	cell cortex|cytoskeleton	1-phosphatidylinositol binding|actin filament binding|calcium ion binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding	p.W706C(3)		endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	17				UCEC - Uterine corpus endometrioid carcinoma (126;0.195)		TTCACAGGCTGGTTCCTGGGCT	0.450000														117			24		0	0	6.4e-05	0	0
LOC728819	728819	broad.mit.edu	37	2	43903236	43903236	+	Nonsense_Mutation	SNP	C	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr2:43903236C>A	uc010fav.1	-	0	226	c.226G>T	c.(226-228)Gga>Tga	p.G76*	PLEKHH2_uc002rte.3_Intron|PLEKHH2_uc002rtf.3_Intron|PLEKHH2_uc010yny.2_Intron	NM_001101330	NP_001094800			Homo sapiens hCG1645220 (LOC728819), mRNA.														all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				TCGGATTCTCCAAAGATGATA	0.398000														468			17		2.27731e-05	0.000388002	0.000229342	1	0
PIGA	5277	broad.mit.edu	37	X	15342953	15342953	+	Missense_Mutation	SNP	G	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chrX:15342953G>T	uc004cwr.3	-	4	1138	c.1022C>A	c.(1021-1023)cCa>cAa	p.P341Q	PIGA_uc010neu.3_Intron|PIGA_uc010nev.3_Missense_Mutation_p.P172Q|PIGA_uc004cwq.3_Missense_Mutation_p.P26Q|PIGA_uc004cws.3_Missense_Mutation_p.P26Q|PIGA_uc011miq.2_Missense_Mutation_p.P107Q	NM_002641	NP_002632	P37287	PIGA_HUMAN	Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class A (PIGA), transcript variant 1, mRNA.	341					C-terminal protein lipidation|positive regulation of metabolic process|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity|protein binding			endometrium(2)|kidney(2)|large_intestine(2)|ovary(1)|prostate(2)|urinary_tract(1)	10	Hepatocellular(33;0.183)					AAGGTTTTCTGGAAGCACCTC	0.388000														167			8		0.000157383	0.00233702	0.000157383	1	0
PTPN11	5781	broad.mit.edu	37	12	112893802	112893802	+	Silent	SNP	C	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr12:112893802C>A	uc001ttx.3	+	5	1071	c.691C>A	c.(691-693)Cga>Aga	p.R231R	PTPN11_uc001ttw.1_Silent_p.R231R	NM_002834	NP_002825	Q06124	PTN11_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 11 (PTPN11), mRNA.	231					T cell costimulation|axon guidance|cell junction assembly|ephrin receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|platelet activation|regulation of cell adhesion mediated by integrin|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytosol	non-membrane spanning protein tyrosine phosphatase activity|protein binding			NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(406)|kidney(2)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(3)|stomach(3)	451						AAGCAGAGTTCGAGAACTAAG	0.358000			Mis		"""JMML, AML, MDS"""		Noonan Syndrome		Noonan syndrome					83			5		3.59834e-05	0.000594959	3.59834e-05	1	0
LRRK2	120892	broad.mit.edu	37	12	40697809	40697809	+	Missense_Mutation	SNP	G	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr12:40697809G>T	uc001rmg.4	+	26	3771	c.3650G>T	c.(3649-3651)tGg>tTg	p.W1217L	LRRK2_uc001rmh.1_Missense_Mutation_p.W839L|LRRK2_uc009zjw.3_Missense_Mutation_p.W55L|LRRK2_uc001rmi.3_Missense_Mutation_p.W50L	NM_198578	NP_940980	Q5S007	LRRK2_HUMAN	Homo sapiens leucine-rich repeat kinase 2 (LRRK2), mRNA.	1217					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				CCCGCACACTGGAAATCTTTG	0.373000														73			6		0.000157383	0.00233702	0.000157383	1	0
HGF	3082	broad.mit.edu	37	7	81388021	81388021	+	Silent	SNP	G	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr7:81388021G>T	uc003uhl.3	-	2	519	c.354C>A	c.(352-354)ctC>ctA	p.L118L	HGF_uc003uhm.3_Silent_p.L118L|HGF_uc003uhn.1_Silent_p.L118L|HGF_uc003uho.1_Silent_p.L118L|HGF_uc003uhp.3_Silent_p.L118L|HGF_uc022agw.1_Silent_p.L118L	NM_000601	NP_000592	P14210	HGF_HUMAN	Homo sapiens hepatocyte growth factor (hepapoietin A; scatter factor) (HGF), transcript variant 1, mRNA.	118	PAN.				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						TGTTTTCATAGAGGTCAAATT	0.353000														141			8		0.000157383	0.00233702	0.000157383	1	0
MYOM1	8736	broad.mit.edu	37	18	3067415	3067415	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr18:3067415C>T	uc002klp.3	-	37	5237	c.4903G>A	c.(4903-4905)Ggc>Agc	p.G1635S	MYOM1_uc002klq.3_Missense_Mutation_p.G1539S	NM_003803	NP_003794	P52179	MYOM1_HUMAN	Homo sapiens myomesin 1, 185kDa (MYOM1), transcript variant 1, mRNA.	1635	Ig-like C2-type 5.					striated muscle myosin thick filament	structural constituent of muscle	p.G1635G(1)		NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						GTGCTCACGCCGTTGATGGTG	0.587000														64			11		0	0	0.00010058	0	0
ASXL3	80816	broad.mit.edu	37	18	31324745	31324745	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr18:31324745G>A	uc010dmg.1	+	11	4988	c.4933G>A	c.(4933-4935)Gaa>Aaa	p.E1645K	ASXL3_uc002kxq.2_Missense_Mutation_p.E1352K	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	Homo sapiens additional sex combs like 3 (Drosophila) (ASXL3), mRNA.	1645					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						TATCAAAACTGAACATGCCAA	0.438000											OREG0024911	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		76			10		0	0	0.00010058	0	0
IGDCC4	57722	broad.mit.edu	37	15	65703658	65703658	+	Missense_Mutation	SNP	C	G	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr15:65703658C>G	uc002aou.1	-	1	331	c.121G>C	c.(121-123)Ggg>Cgg	p.G41R		NM_020962	NP_066013	Q8TDY8	IGDC4_HUMAN	Homo sapiens immunoglobulin superfamily, DCC subclass, member 4 (IGDCC4), mRNA.	41	Ig-like C2-type 1.					integral to membrane|plasma membrane				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						TGCAGTGGCCCCACTCCACAG	0.652000														33			3		0	0	0.00024832	0	0
MSC	9242	broad.mit.edu	37	8	72754962	72754962	+	Silent	SNP	C	G	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr8:72754962C>G	uc003xyx.1	-	1	873	c.555G>C	c.(553-555)tcG>tcC	p.S185S	LOC100132891_uc011lff.2_5'Flank|LOC100132891_uc022avt.1_5'Flank|LOC100132891_uc003xyy.3_5'Flank	NM_005098	NP_005089	O60682	MUSC_HUMAN	Homo sapiens musculin (MSC), mRNA.	185					transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			endometrium(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(4)|skin(2)	26	Breast(64;0.176)		Epithelial(68;0.137)|BRCA - Breast invasive adenocarcinoma(89;0.203)			CCGGTCTTCCCGAGACCACGA	0.473000														244			8		0	0	0.000151284	0	0
PLEKHH2	130271	broad.mit.edu	37	2	43965548	43965548	+	Missense_Mutation	SNP	G	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr2:43965548G>T	uc010yny.2	+	19	3095	c.3012G>T	c.(3010-3012)caG>caT	p.Q1004H	PLEKHH2_uc002rtf.3_Missense_Mutation_p.Q1003H	NM_172069	NP_742066	Q8IVE3	PKHH2_HUMAN	Homo sapiens pleckstrin homology domain containing, family H (with MyTH4 domain) member 2 (PLEKHH2), mRNA.	1004	MyTH4.					cytoplasm|cytoskeleton|integral to membrane	binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				CTTTAGCCCAGAGTGCTTTGC	0.398000														447			15		1.87028e-06	3.3888e-05	0.000229342	1	0
SETD1A	9739	broad.mit.edu	37	16	30977287	30977287	+	Missense_Mutation	SNP	G	C	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr16:30977287G>C	uc002ead.1	+	7	2771	c.2085G>C	c.(2083-2085)caG>caC	p.Q695H		NM_014712	NP_055527	O15047	SET1A_HUMAN	Homo sapiens SET domain containing 1A (SETD1A), mRNA.	695					regulation of transcription, DNA-dependent|transcription, DNA-dependent	Set1C/COMPASS complex|chromosome|nuclear speck	RNA binding|histone-lysine N-methyltransferase activity|nucleotide binding|protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						AGCTGCGGCAGGGCAAGGGAT	0.652000														80			5		0	0	8.12818e-05	0	0
TXNDC16	57544	broad.mit.edu	37	14	52906028	52906028	+	Silent	SNP	C	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr14:52906028C>A	uc001wzs.3	-	19	2537	c.2088G>T	c.(2086-2088)ctG>ctT	p.L696L	TXNDC16_uc010tqu.2_Silent_p.L691L|TXNDC16_uc010aoe.3_Non-coding_Transcript	NM_020784	NP_065835	Q9P2K2	TXD16_HUMAN	Homo sapiens thioredoxin domain containing 16 (TXNDC16), transcript variant 1, mRNA.	696					cell redox homeostasis	extracellular region				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(3)|skin(1)	21	Breast(41;0.0716)					CACCTGAATGCAGATTCACCA	0.423000														46			5		3.59834e-05	0.000594959	3.59834e-05	1	0
CPNE2	221184	broad.mit.edu	37	16	57181538	57181538	+	Missense_Mutation	SNP	A	G	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr16:57181538A>G	uc010cct.2	+	16	2040	c.1693A>G	c.(1693-1695)Aac>Gac	p.N565D	CPNE2_uc002eks.2_Missense_Mutation_p.N539D|CPNE2_uc010ccu.2_Missense_Mutation_p.N539D|CPNE2_uc002ekt.1_3'UTR	NM_152727	NP_689940	Q96FN4	CPNE2_HUMAN	Homo sapiens copine II (CPNE2), mRNA.	539										central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(5)	21		all_neural(199;0.224)				CAAGCATAAAAACCTGCCCCC	0.612000														59			6		0	0	8.12818e-05	0	0
MAGEA12	4111	broad.mit.edu	37	X	151900616	151900616	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chrX:151900616G>A	uc022chj.1	-	0	185	c.185C>T	c.(184-186)cCc>cTc	p.P62L	MAGEA12_uc004fgb.3_Intron|MAGEA12_uc010ntp.3_Missense_Mutation_p.P62L|MAGEA12_uc022chi.1_Missense_Mutation_p.P62L|MAGEA12_uc004fgc.3_Missense_Mutation_p.P62L|CSAG1_uc004fge.3_5'Flank|CSAG1_uc004fgf.3_5'Flank|CSAG1_uc004fgd.3_5'Flank	NM_005367	NP_005358	P43365	MAGAC_HUMAN	Homo sapiens melanoma antigen family A, 12 (MAGEA12), transcript variant 3, mRNA.	62										breast(5)|large_intestine(5)|liver(1)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					AGGACTGTGGGGAGGACTTGG	0.597000														146			20		0	0	0.000229342	0	0
AK022382	0	broad.mit.edu	37	10	52390485	52390485	+	RNA	SNP	G	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr10:52390485G>A	uc001jjf.1	+	1		c.1178G>A								Homo sapiens cDNA FLJ12320 fis, clone MAMMA1002082.																		CTGCAGGGATGAAATCTGGAT	0.443000														86			19		0	0	0.000132079	0	0
NBEA	26960	broad.mit.edu	37	13	35716493	35716493	+	Silent	SNP	C	G	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr13:35716493C>G	uc021rid.1	+	17	2958	c.2424C>G	c.(2422-2424)acC>acG	p.T808T	NBEA_uc021ric.1_Silent_p.T808T	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN	Homo sapiens neurobeachin (NBEA), transcript variant 1, mRNA.	808						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		TGACTGTCACCACATACAACA	0.363000														164			7		0	0	0.00010058	0	0
SLC18B1	116843	broad.mit.edu	37	6	133095407	133095407	+	Missense_Mutation	SNP	C	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr6:133095407C>A	uc003qdw.1	-	8	1095	c.943G>T	c.(943-945)Ggg>Tgg	p.G315W	SLC18B1_uc010kgd.1_Non-coding_Transcript|SLC18B1_uc011eco.1_Missense_Mutation_p.G189W	NM_052831	NP_439896	Q6NT16	CF192_HUMAN	Homo sapiens chromosome 6 open reading frame 192 (C6orf192), mRNA.	315					transmembrane transport	integral to membrane											ATGTAGCACCCGGCTGTGATT	0.398000														177			7		0.000157383	0.00233702	0.000157383	1	0
ZCCHC14	23174	broad.mit.edu	37	16	87525461	87525461	+	Splice_Site	SNP	C	G	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr16:87525461C>G	uc002fjz.1	-	1	1	c.-26_splice	c.e1-1		ZCCHC14_uc002fka.1_Splice_Site|BC131758_uc002fkc.2_5'Flank	NM_015144	NP_055959	Q8WYQ9	ZCH14_HUMAN	Homo sapiens zinc finger, CCHC domain containing 14 (ZCCHC14), mRNA.						cell communication		nucleic acid binding|phosphatidylinositol binding|zinc ion binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	36				BRCA - Breast invasive adenocarcinoma(80;0.0285)		ACTCATCGCCCGTGCGGCCCT	0.647000														39			3		0	0	6.4e-05	0	0
ATPAF2	91647	broad.mit.edu	37	17	17929669	17929669	+	Missense_Mutation	SNP	C	G	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr17:17929669C>G	uc002gse.1	-	3	539	c.386G>C	c.(385-387)cGg>cCg	p.R129P	ATPAF2_uc002gsd.1_Non-coding_Transcript|ATPAF2_uc010cps.1_Non-coding_Transcript	NM_145691	NP_663729	Q8N5M1	ATPF2_HUMAN	Homo sapiens ATP synthase mitochondrial F1 complex assembly factor 2 (ATPAF2), nuclear gene encoding mitochondrial protein, mRNA.	129					proton-transporting ATP synthase complex assembly	mitochondrion|nuclear speck	protein binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|urinary_tract(1)	8	all_neural(463;0.228)					CACGGCTGCCCGGATCAGCTG	0.498000														153			6		0	0	6.40141e-05	0	0
STK32C	282974	broad.mit.edu	37	10	134144973	134144973	+	Missense_Mutation	SNP	G	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr10:134144973G>T	uc010quu.1	-	0	384	c.268C>A	c.(268-270)Ctg>Atg	p.L90M	STK32C_uc009ybc.1_5'UTR|STK32C_uc009ybd.1_Intron|LRRC27_uc001llf.2_5'Flank|LRRC27_uc010quv.1_5'Flank|LRRC27_uc010quw.1_5'Flank|LRRC27_uc001llg.2_5'Flank|LRRC27_uc001lli.2_5'Flank	NM_173575	NP_775846	Q86UX6	ST32C_HUMAN	Homo sapiens serine/threonine kinase 32C (STK32C), mRNA.	0							ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(1)|endometrium(2)|large_intestine(2)|lung(15)|ovary(2)|skin(1)	23		all_cancers(35;2.72e-11)|all_epithelial(44;2.33e-08)|Lung NSC(174;0.000855)|all_lung(145;0.00146)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.112)|Melanoma(40;0.124)|Glioma(114;0.203)		Epithelial(32;3.99e-05)|all cancers(32;5.58e-05)|OV - Ovarian serous cystadenocarcinoma(35;9.96e-05)|BRCA - Breast invasive adenocarcinoma(275;0.222)		CCTCCGTCCAGAGGCAGCCTT	0.572000														49			6		0.000274275	0.00385584	0.000274275	1	0
C8orf22	492307	broad.mit.edu	37	8	49985411	49985411	+	Missense_Mutation	SNP	G	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr8:49985411G>T	uc003xqq.4	+	1	205	c.22G>T	c.(22-24)Ggt>Tgt	p.G8C		NM_001007176	NP_001007177	Q8WWR9	PDPFL_HUMAN	Homo sapiens chromosome 8 open reading frame 22 (C8orf22), mRNA.	8										large_intestine(1)|lung(7)|prostate(1)	9		all_cancers(86;0.0452)|all_epithelial(80;0.000863)|Lung NSC(129;0.0019)|all_lung(136;0.00502)				ACCTTCCATTGGTTGCCTTCT	0.418000														127			8		6.40141e-05	0.00103518	6.40141e-05	1	0
CMYA5	202333	broad.mit.edu	37	5	79033517	79033517	+	Silent	SNP	T	C	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr5:79033517T>C	uc003kgc.3	+	1	9001	c.8929T>C	c.(8929-8931)Tta>Cta	p.L2977L		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	Homo sapiens cardiomyopathy associated 5 (CMYA5), mRNA.	2977						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		GCAAGATAAATTAGAATATTT	0.348000														72			16		0	0	0.000229342	0	0
DOPEY2	9980	broad.mit.edu	37	21	37617407	37617407	+	Silent	SNP	C	G	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr21:37617407C>G	uc002yvg.3	+	18	3208	c.3129C>G	c.(3127-3129)ccC>ccG	p.P1043P	DOPEY2_uc011aeb.2_Silent_p.P992P|DOPEY2_uc002yvh.3_5'UTR	NM_005128	NP_005119	Q9Y3R5	DOP2_HUMAN	Homo sapiens dopey family member 2 (DOPEY2), mRNA.	1043					Golgi to endosome transport|endoplasmic reticulum organization|multicellular organismal development|protein transport	Golgi membrane				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						GCGCAGTGCCCGAGCCTCAGG	0.522000														73			4		0	0	3.59834e-05	0	0
KIAA0319L	79932	broad.mit.edu	37	1	35925906	35925906	+	Splice_Site	SNP	C	G	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:35925906C>G	uc001byx.3	-	9	1685	c.1427_splice	c.e9+1	p.S476_splice	KIAA0319L_uc010ohv.1_Splice_Site_p.S118_splice	NM_024874	NP_079150	Q8IZA0	K319L_HUMAN	Homo sapiens KIAA0319-like (KIAA0319L), mRNA.	476	PKD 2.					cytoplasmic vesicle part|integral to membrane	protein binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(12)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	34		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				CCTAATTTACCTGAAAGTGTA	0.368000														81			4		0	0	0.000157383	0	0
HECTD2	143279	broad.mit.edu	37	10	93244936	93244936	+	Splice_Site	SNP	G	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr10:93244936G>T	uc010qnm.1	+	11	1083	c.983_splice	c.e11-1	p.N328_splice	LOC100188947_uc010qnl.2_Intron|HECTD2_uc001khl.2_Splice_Site_p.N324_splice|HECTD2_uc001khm.2_Splice_Site|HECTD2_uc009xty.1_Splice_Site|HECTD2_uc001khn.1_Splice_Site	NM_182765	NP_877497	Q5U5R9	HECD2_HUMAN	Homo sapiens HECT domain containing 2 (HECTD2), transcript variant 1, mRNA.	324					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity			breast(2)|endometrium(2)|kidney(4)|large_intestine(10)|lung(7)|skin(1)|urinary_tract(1)	27						TATCTTTACAGATACTGCAAA	0.303000														153			8		0.000673444	0.00850193	0.000673444	1	0
ZNF254	9534	broad.mit.edu	37	19	24310294	24310294	+	Missense_Mutation	SNP	T	G	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr19:24310294T>G	uc002nru.3	+	3	1626	c.1492T>G	c.(1492-1494)Tct>Gct	p.S498A	ZNF254_uc010xrk.2_Missense_Mutation_p.S413A	NM_203282	NP_975011	O75437	ZN254_HUMAN	Homo sapiens zinc finger protein 254 (ZNF254), mRNA.	498					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding						all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)				ATGTGGCAAATCTTTTAGCCA	0.408000														86			4		0	0	0.00024832	0	0
CDKAL1	54901	broad.mit.edu	37	6	21231231	21231231	+	Silent	SNP	G	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr6:21231231G>T	uc003ndd.2	+	15	1868	c.1701G>T	c.(1699-1701)ctG>ctT	p.L567L	CDKAL1_uc003nde.2_Silent_p.L476L|CDKAL1_uc021ymk.1_Silent_p.L567L|CDKAL1_uc003ndf.2_Silent_p.L80L	NM_017774	NP_060244	Q5VV42	CDKAL_HUMAN	Homo sapiens CDK5 regulatory subunit associated protein 1-like 1 (CDKAL1), mRNA.	567					RNA modification	integral to membrane	4 iron, 4 sulfur cluster binding|metal ion binding|transferase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|stomach(1)	29	all_epithelial(95;0.0708)|Breast(50;0.131)|Ovarian(93;0.227)		OV - Ovarian serous cystadenocarcinoma(7;0.0241)|all cancers(50;0.123)|Epithelial(50;0.248)			TGGCTCTGCTGGGTCTTCTTT	0.413000														343			12		3.45872e-05	0.000584306	0.000422831	1	0
DOCK3	1795	broad.mit.edu	37	3	51370665	51370665	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr3:51370665G>A	uc011bds.2	+	34	3615	c.3592G>A	c.(3592-3594)Gaa>Aaa	p.E1198K		NM_004947	NP_004938	Q8IZD9	DOCK3_HUMAN	Homo sapiens dedicator of cytokinesis 3 (DOCK3), mRNA.	1198	DHR-2.					cytoplasm	GTP binding|GTPase binding|SH3 domain binding|guanyl-nucleotide exchange factor activity			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		CCGCCTCATGGAACGTCTTCT	0.542000														101			7		0	0	0.000442599	0	0
NLRP13	126204	broad.mit.edu	37	19	56424240	56424240	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr19:56424240C>T	uc010ygg.2	-	4	968	c.943G>A	c.(943-945)Gaa>Aaa	p.E315K		NM_176810	NP_789780	Q86W25	NAL13_HUMAN	Homo sapiens NLR family, pyrin domain containing 13 (NLRP13), mRNA.	315	NACHT.						ATP binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		ATGATTATTTCCTCAAAGCCA	0.453000														77			24		0	0	0.00047179	0	0
BRCA2	675	broad.mit.edu	37	13	32914451	32914451	+	Missense_Mutation	SNP	C	G	G	rs80358828		TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr13:32914451C>G	uc001uub.1	+	10	6186	c.5959C>G	c.(5959-5961)Cag>Gag	p.Q1987E		NM_000059	NP_000050	P51587	BRCA2_HUMAN	Homo sapiens breast cancer 2, early onset (BRCA2), mRNA.	1987					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|gamma-tubulin binding|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		AAAATCTGTCCAGGTATCAGA	0.348000			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)				172			7		0	0	0.000274275	0	0
NLRP8	126205	broad.mit.edu	37	19	56459300	56459300	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr19:56459300C>T	uc002qmh.3	+	0	103	c.32C>T	c.(31-33)cCc>cTc	p.P11L	NLRP8_uc010etg.3_Missense_Mutation_p.P11L	NM_176811	NP_789781	Q86W28	NALP8_HUMAN	Homo sapiens NLR family, pyrin domain containing 8 (NLRP8), mRNA.	11						cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		TCTGACACCCCCATTCCCTTT	0.507000														182			17		0	0	9.7654e-05	0	0
SLC25A52	147407	broad.mit.edu	37	18	29340133	29340133	+	Silent	SNP	C	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr18:29340133C>T	uc002kxa.2	-	0	711	c.492G>A	c.(490-492)ctG>ctA	p.L164L		NM_001034172	NP_001029344	Q3SY17	MCAR2_HUMAN	Homo sapiens mitochondrial carrier triple repeat 2 (MCART2), nuclear gene encoding mitochondrial protein, mRNA.	164					transport	integral to membrane|mitochondrial inner membrane											CATGACATTTCAGTGCCTTGA	0.428000														189			29		0	0	0.000491102	0	0
IL15RA	3601	broad.mit.edu	37	10	6002336	6002336	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr10:6002336G>A	uc021pmo.1	-	4	849	c.835C>T	c.(835-837)Ccg>Tcg	p.P279S	IL15RA_uc010qau.2_Missense_Mutation_p.P160S|IL15RA_uc021pmp.1_Missense_Mutation_p.P130S|IL15RA_uc001iiv.3_Missense_Mutation_p.P193S|IL15RA_uc001iiw.3_Missense_Mutation_p.P157S|IL15RA_uc001iiy.3_Missense_Mutation_p.P41S	NM_001243539	NP_001230468	Q13261	I15RA_HUMAN	Homo sapiens interleukin 15 receptor, alpha (IL15RA), transcript variant 3, mRNA.	193					cell proliferation	Golgi membrane|cytoplasmic vesicle membrane|endoplasmic reticulum membrane|extracellular space|integral to membrane|nuclear membrane	cytokine receptor activity			cervix(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	5						TAACCTGGCGGCTGGTGGGAG	0.577000														92			20		0	0	0.000586117	0	0
ITGA6	3655	broad.mit.edu	37	2	173341207	173341207	+	Missense_Mutation	SNP	G	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr2:173341207G>T	uc002uhp.1	+	8	1557	c.1354G>T	c.(1354-1356)Gtt>Ttt	p.V452F	ITGA6_uc010zdy.1_Missense_Mutation_p.V333F|ITGA6_uc002uho.1_Missense_Mutation_p.V452F|ITGA6_uc010fqm.1_Missense_Mutation_p.V98F	NM_001079818	NP_001073286	P23229	ITA6_HUMAN	Homo sapiens integrin, alpha 6 (ITGA6), transcript variant 1, mRNA.	491					blood coagulation|cell adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter	integrin complex	protein binding|receptor activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	44			OV - Ovarian serous cystadenocarcinoma(117;0.0979)			TGATGTTGCTGTTGGTTCCCT	0.368000														101			6		0.000157383	0.00233702	0.000157383	1	0
INMT	11185	broad.mit.edu	37	7	30793423	30793423	+	Silent	SNP	C	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr7:30793423C>T	uc003tbs.1	+	1	247	c.231C>T	c.(229-231)tcC>tcT	p.S77S	FAM188B_uc010kwe.3_5'UTR|INMT_uc010kwc.1_Non-coding_Transcript|INMT_uc010kwd.1_Silent_p.S76S	NM_006774	NP_006765	O95050	INMT_HUMAN	Homo sapiens indolethylamine N-methyltransferase (INMT), transcript variant 1, mRNA.	77						cytoplasm	amine N-methyltransferase activity			kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|stomach(1)	23						CCTGTGATTCCTTCCAAGACA	0.567000														189			16		0	0	0.000132079	0	0
EHBP1	23301	broad.mit.edu	37	2	63215083	63215083	+	Nonsense_Mutation	SNP	G	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr2:63215083G>T	uc002sby.3	+	16	3213	c.2731G>T	c.(2731-2733)Gag>Tag	p.E911*	EHBP1_uc010fcp.3_Intron|EHBP1_uc002sbz.3_Intron|EHBP1_uc002scb.3_Nonsense_Mutation_p.E876*	NM_015252	NP_056067	Q8NDI1	EHBP1_HUMAN	Homo sapiens EH domain binding protein 1 (EHBP1), transcript variant 1, mRNA.	911						cytoplasm|membrane		p.E911Q(2)		biliary_tract(1)|breast(3)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(22)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	47	Lung NSC(7;0.0951)|all_lung(7;0.169)		LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189)			TGATAATATTGAGATAGATAC	0.318000														113			7		3.09899e-07	5.82643e-06	0.000274275	1	0
CHD7	55636	broad.mit.edu	37	8	61763180	61763180	+	Splice_Site	SNP	G	C	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr8:61763180G>C	uc003xue.3	+	26	6026	c.5534_splice	c.e26+1	p.G1845_splice	CHD7_uc022aux.1_Intron	NM_017780	NP_060250	Q9P2D1	CHD7_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 7 (CHD7), mRNA.	1845					T cell differentiation|central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|transcription, DNA-dependent	nucleus	ATP binding|DNA binding|chromatin binding|helicase activity	p.G1845fs*5(2)		NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			TGGTGGTGACGGGTAAGAAGG	0.468000														29			3		0	0	0.000602214	0	0
BTN3A3	10384	broad.mit.edu	37	6	26451990	26451990	+	Missense_Mutation	SNP	G	C	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr6:26451990G>C	uc003nhz.3	+	10	1349	c.1106G>C	c.(1105-1107)cGg>cCg	p.R369P	BTN3A3_uc011dkn.2_Missense_Mutation_p.R320P|BTN3A3_uc021ynh.1_Missense_Mutation_p.R159P	NM_006994	NP_008925	O00478	BT3A3_HUMAN	Homo sapiens butyrophilin, subfamily 3, member A3 (BTN3A3), transcript variant 1, mRNA.	369	B30.2/SPRY.					integral to membrane				cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30						GAAGAGCCGCGGGATCTGCCA	0.537000														102			5		0	0	3.59834e-05	0	0
RFPL2	10739	broad.mit.edu	37	22	32587262	32587262	+	Missense_Mutation	SNP	G	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr22:32587262G>T	uc003amg.3	-	4	1570	c.634C>A	c.(634-636)Cgc>Agc	p.R212S	RFPL2_uc003ame.3_Missense_Mutation_p.R151S|RFPL2_uc003amf.3_Missense_Mutation_p.R122S|RFPL2_uc003amh.3_Missense_Mutation_p.R122S	NM_001098527	NP_001153018	O75678	RFPL2_HUMAN	Homo sapiens ret finger protein-like 2 (RFPL2), transcript variant 2, mRNA.	212	B30.2/SPRY.						zinc ion binding			endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	21						TGTCTGATGCGCCCACTTCGG	0.542000														89			5		0.000274275	0.00385584	0.000274275	1	0
EXPH5	23086	broad.mit.edu	37	11	108381919	108381919	+	Missense_Mutation	SNP	G	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr11:108381919G>T	uc001pkk.3	-	5	4426	c.4315C>A	c.(4315-4317)Caa>Aaa	p.Q1439K	EXPH5_uc010rvz.2_Missense_Mutation_p.Q1283K|EXPH5_uc010rvy.2_Missense_Mutation_p.Q1251K	NM_015065	NP_055880	Q149M6	Q149M6_HUMAN	Homo sapiens exophilin 5 (EXPH5), mRNA.	1439					intracellular protein transport		Rab GTPase binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		CTTCTAGTTTGGGAATTTCCA	0.413000														110			6		5.18039e-06	9.16098e-05	0.000157383	1	0
CAMKMT	79823	broad.mit.edu	37	2	44993569	44993569	+	Splice_Site	SNP	G	C	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr2:44993569G>C	uc002rum.2	+	10	867	c.763_splice	c.e10-1	p.G255_splice		NM_024766	NP_079042	Q7Z624	CMKMT_HUMAN	Homo sapiens calmodulin-lysine N-methyltransferase (CAMKMT), mRNA.	255						cytoplasm	calmodulin-lysine N-methyltransferase activity			breast(2)|large_intestine(3)|lung(5)	10						ACTGTTCTAGGGGAAAGCGAT	0.368000														84			5		0	0	0.000274275	0	0
CCNA1	8900	broad.mit.edu	37	13	37016407	37016407	+	Missense_Mutation	SNP	C	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr13:37016407C>A	uc001uvr.4	+	7	1662	c.1312C>A	c.(1312-1314)Cag>Aag	p.Q438K	CCNA1_uc010teo.2_Missense_Mutation_p.Q394K|CCNA1_uc010abq.3_Missense_Mutation_p.Q394K|CCNA1_uc010abp.3_Missense_Mutation_p.Q394K|CCNA1_uc001uvs.4_Missense_Mutation_p.Q437K|CCNA1_uc010abr.3_Non-coding_Transcript	NM_003914	NP_001104517	P78396	CCNA1_HUMAN	Homo sapiens cyclin A1 (CCNA1), transcript variant 1, mRNA.	438					G2/M transition of mitotic cell cycle|cell division|male meiosis I|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|spermatogenesis	cytosol|microtubule cytoskeleton|nucleoplasm	protein kinase binding			breast(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	35		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242)		CCATCGACCTCAGCAAGCAAT	0.398000														110			7		0.000157383	0.00233702	0.000157383	1	0
LOXL3	84695	broad.mit.edu	37	2	74761311	74761311	+	Silent	SNP	C	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr2:74761311C>A	uc002smp.1	-	11	2064	c.1992G>T	c.(1990-1992)gtG>gtT	p.V664V	LOXL3_uc002smo.1_Silent_p.V303V|LOXL3_uc010ffm.1_Silent_p.V608V|LOXL3_uc002smq.1_Silent_p.V519V|LOXL3_uc010ffn.1_Silent_p.V519V	NM_032603	NP_115992	P58215	LOXL3_HUMAN	Homo sapiens lysyl oxidase-like 3 (LOXL3), mRNA.	664	Lysyl-oxidase like.					extracellular space|membrane	copper ion binding|protein-lysine 6-oxidase activity|scavenger receptor activity			endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30						CCCAGCAACCCACAGTGATGC	0.507000														83			8		0.000157383	0.00233702	0.000157383	1	0
PIK3CG	5294	broad.mit.edu	37	7	106513003	106513003	+	Missense_Mutation	SNP	C	G	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr7:106513003C>G	uc003vdv.4	+	2	2102	c.2017C>G	c.(2017-2019)Cat>Gat	p.H673D	PIK3CG_uc003vdu.3_Missense_Mutation_p.H673D|PIK3CG_uc003vdw.3_Missense_Mutation_p.H673D	NM_002649	NP_002640	P48736	PK3CG_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, gamma polypeptide (PIK3CG), mRNA.	673					G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						TGAACCATACCATGATAGCGC	0.393000														164			6		0	0	6.40141e-05	0	0
FAR2	55711	broad.mit.edu	37	12	29464850	29464850	+	Missense_Mutation	SNP	G	C	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr12:29464850G>C	uc001rit.3	+	7	1190	c.922G>C	c.(922-924)Ggt>Cgt	p.G308R	FAR2_uc001ris.4_Missense_Mutation_p.G308R|FAR2_uc009zjm.3_Missense_Mutation_p.G211R|AX746523_uc001riu.1_Intron	NM_018099	NP_060569	Q96K12	FACR2_HUMAN	Homo sapiens fatty acyl CoA reductase 2 (FAR2), mRNA.	308					ether lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane	binding|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor			central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|prostate(1)|stomach(1)	29						CATTACATCTGGTAACATGAA	0.323000														42			4		0	0	0.000157383	0	0
FADS3	3995	broad.mit.edu	37	11	61644404	61644404	+	Missense_Mutation	SNP	C	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr11:61644404C>A	uc001nsm.3	-	7	1070	c.917G>T	c.(916-918)cGc>cTc	p.R306L		NM_021727	NP_068373	Q9Y5Q0	FADS3_HUMAN	Homo sapiens fatty acid desaturase 3 (FADS3), mRNA.	306					electron transport chain|transport|unsaturated fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|membrane fraction	heme binding|oxidoreductase activity, acting on paired donors, with oxidation of a pair of donors resulting in the reduction of molecular oxygen to two molecules of water			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						TAAGAAGAAGCGGGCATAGAA	0.622000														11			4		3.59834e-05	0.000594959	3.59834e-05	1	0
MUC16	94025	broad.mit.edu	37	19	9076829	9076829	+	Silent	SNP	G	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr19:9076829G>A	uc002mkp.3	-	2	10821	c.10617C>T	c.(10615-10617)tcC>tcT	p.S3539S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	3540	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGATGGTGGTGGAGATACCTG	0.542000														107			16		0	0	0.000422831	0	0
TRIM5	85363	broad.mit.edu	37	11	5699587	5699587	+	Missense_Mutation	SNP	G	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr11:5699587G>T	uc001mbm.2	-	3	894	c.591C>A	c.(589-591)agC>agA	p.S197R	TRIM5_uc001mbq.1_Missense_Mutation_p.S197R|TRIM5_uc001mbl.2_Non-coding_Transcript|TRIM5_uc001mbn.3_Missense_Mutation_p.S197R|TRIM5_uc001mbp.3_Missense_Mutation_p.S197R|TRIM5_uc021qcx.1_Missense_Mutation_p.S197R	NM_033034	NP_149023	Q9C035	TRIM5_HUMAN	Homo sapiens tripartite motif containing 5 (TRIM5), transcript variant alpha, mRNA.	197					interspecies interaction between organisms|protein trimerization|response to virus	cytoplasm|cytoplasmic mRNA processing body	ligase activity|protein binding|protein homodimerization activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)|Lung NSC(207;0.138)|all_lung(207;0.221)		Epithelial(150;7.21e-09)|BRCA - Breast invasive adenocarcinoma(625;0.139)		GCAGCTCATTGCTCTCCTCCC	0.468000														165			9		3.86212e-05	0.000634077	0.000673444	1	0
DNAH10	196385	broad.mit.edu	37	12	124256171	124256171	+	Nonsense_Mutation	SNP	G	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr12:124256171G>T	uc001uft.4	+	2	164	c.139G>T	c.(139-141)Gaa>Taa	p.E47*		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA.	47	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		ACTGAGAACCGAATCTCTAGG	0.408000														52			5		0.000442599	0.00580232	0.000442599	1	0
MGAT5B	146664	broad.mit.edu	37	17	74928824	74928824	+	Silent	SNP	C	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr17:74928824C>A	uc002jti.3	+	9	1525	c.1422C>A	c.(1420-1422)gcC>gcA	p.A474A	MGAT5B_uc002jth.3_Silent_p.A463A	NM_198955	NP_945193	Q3V5L5	MGT5B_HUMAN	Homo sapiens mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B (MGAT5B), transcript variant 2, mRNA.	463						Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity|metal ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(15)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GCAACATGGCCGTGGTGTACG	0.667000														65			5		0.000157383	0.00233702	0.000157383	1	0
RYR1	6261	broad.mit.edu	37	19	39008294	39008294	+	Silent	SNP	G	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr19:39008294G>T	uc002oit.3	+	65	10111	c.9981G>T	c.(9979-9981)ctG>ctT	p.L3327L	RYR1_uc002oiu.3_Silent_p.L3327L|RYR1_uc002oiv.1_Silent_p.L247L|RYR1_uc010xuf.1_Silent_p.L247L	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	3327					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	TCAACAACCTGGGCATTGACG	0.667000														69			6		0.000274275	0.00385584	0.000274275	1	0
NEK11	79858	broad.mit.edu	37	3	130947505	130947505	+	Silent	SNP	C	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr3:130947505C>T	uc003eny.3	+	14	1859	c.1533C>T	c.(1531-1533)tcC>tcT	p.S511S	NEK11_uc003eoa.3_Silent_p.S511S|NEK11_uc003enz.3_Silent_p.S329S|NEK11_uc011blk.2_Silent_p.S327S|NEK11_uc011bll.2_Silent_p.S406S	NM_024800	NP_079076	Q8NG66	NEK11_HUMAN	Homo sapiens NIMA (never in mitosis gene a)- related kinase 11 (NEK11), transcript variant 1, mRNA.	511					cell cycle|intra-S DNA damage checkpoint|intracellular protein kinase cascade	nucleolus	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity	p.S511S(2)		breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|stomach(1)|urinary_tract(2)	33						ATGAGGGATCCCAGCCTGCTT	0.448000														55			7		0	0	0.000157383	0	0
DACT3	147906	broad.mit.edu	37	19	47151769	47151769	+	Silent	SNP	C	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr19:47151769C>A	uc010ekq.3	-	3	1934	c.1860G>T	c.(1858-1860)tcG>tcT	p.S620S		NM_145056	NP_659493	Q96B18	DACT3_HUMAN	Homo sapiens dapper, antagonist of beta-catenin, homolog 3 (Xenopus laevis) (DACT3), mRNA.	620										lung(1)	1		Ovarian(192;0.0798)|all_neural(266;0.107)		OV - Ovarian serous cystadenocarcinoma(262;0.000173)|all cancers(93;0.000464)|Epithelial(262;0.02)|GBM - Glioblastoma multiforme(486;0.0325)		TGAGAGAACCCGAACGGAAAC	0.577000														244			11		1.3612e-06	2.49221e-05	0.000308642	1	0
FAT4	79633	broad.mit.edu	37	4	126370308	126370308	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr4:126370308G>A	uc003ifj.4	+	8	8137	c.8137G>A	c.(8137-8139)Gaa>Aaa	p.E2713K	FAT4_uc011cgp.2_Missense_Mutation_p.E1011K|FAT4_uc003ifi.1_Missense_Mutation_p.E191K	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	2713	Cadherin 26.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TGGCAACATGGAAAATAGTTT	0.378000														94			6		0	0	3.59834e-05	0	0
AMPD1	270	broad.mit.edu	37	1	115238105	115238106	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:115238105_115238106CC>TT	uc001efe.2	-	0	134_135	c.86_87GG>AA	c.(85-87)agg>aAA	p.R29K	AMPD1_uc001eff.2_Missense_Mutation_p.R29K	NM_000036	NP_000027	P23109	AMPD1_HUMAN	Homo sapiens adenosine monophosphate deaminase 1 (AMPD1), transcript variant 1, mRNA.	0					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	Adenosine monophosphate(DB00131)	TTGCTGAAATCCTTGATTCTAG	0.376000														171			29		0	0	6.4e-05	0	0
FMNL2	114793	broad.mit.edu	37	2	153431698	153431698	+	Silent	SNP	G	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr2:153431698G>T	uc002tye.3	+	6	1012	c.645G>T	c.(643-645)gtG>gtT	p.V215V		NM_052905	NP_443137	Q96PY5	FMNL2_HUMAN	Homo sapiens formin-like 2 (FMNL2), mRNA.	215	GBD/FH3.				actin cytoskeleton organization	cytoplasm	Rho GTPase binding|actin binding			central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(2)|lung(3)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	23						CAAGATTAGTGAGTAAGAAAG	0.323000														32			5		1.06961e-07	2.04675e-06	0.000157383	1	0
ARAP2	116984	broad.mit.edu	37	4	36189153	36189153	+	Nonsense_Mutation	SNP	G	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr4:36189153G>T	uc003gsq.2	-	7	1936	c.1598C>A	c.(1597-1599)tCa>tAa	p.S533*	ARAP2_uc003gsr.1_Nonsense_Mutation_p.S533*	NM_015230	NP_056045	Q8WZ64	ARAP2_HUMAN	Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2 (ARAP2), mRNA.	533	PH 1.				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						TCGTACTGTTGATATAGCAGA	0.308000														119			8		3.07112e-06	5.48644e-05	6.40141e-05	1	0
OR4C11	219429	broad.mit.edu	37	11	55371689	55371689	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr11:55371689C>T	uc010rii.2	-	0	186	c.161G>A	c.(160-162)gGa>gAa	p.G54E		NM_001004700	NP_001004700	Q6IEV9	OR4CB_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 11 (OR4C11), mRNA.	54					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|prostate(1)|skin(1)	33						CATGGGGCTTCCTAGTGTCCG	0.398000														71			17		0	0	0.000566183	0	0
BC125159	0	broad.mit.edu	37	3	160286986	160286986	+	RNA	SNP	C	G	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr3:160286986C>G	uc003fdp.1	+	0		c.1530C>G								Homo sapiens keratin 8 pseudogene 12, mRNA (cDNA clone IMAGE:40121068).																		AGATCGAGACCCGCGATGGGA	0.607000														10			4		0	0	0.000157383	0	0
KIDINS220	57498	broad.mit.edu	37	2	8872103	8872103	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr2:8872103G>A	uc002qzc.2	-	29	4245	c.4063C>T	c.(4063-4065)Cgc>Tgc	p.R1355C	KIDINS220_uc010yiv.1_Intron|KIDINS220_uc002qzd.2_Missense_Mutation_p.R1256C|KIDINS220_uc002qzb.2_Missense_Mutation_p.R209C	NM_020738	NP_065789	Q9ULH0	KDIS_HUMAN	Homo sapiens kinase D-interacting substrate, 220kDa (KIDINS220), mRNA.	1355					activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane		p.R1355C(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					GGGGTTCTGCGAGTTTGTGAC	0.353000														146			19		0	0	0.000132079	0	0
TNXB	7148	broad.mit.edu	37	6	32016340	32016340	+	Missense_Mutation	SNP	C	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr6:32016340C>A	uc003nzl.2	-	28	10041	c.9839G>T	c.(9838-9840)tGg>tTg	p.W3280L	TNXB_uc003nzg.1_5'Flank|TNXB_uc003nzh.1_5'Flank	NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	3327	Fibronectin type-III 24.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GGCCACCGTCCATGAGAGGCC	0.701000														161			8		1.12685e-05	0.000194597	0.000274275	1	0
ATP11B	23200	broad.mit.edu	37	3	182590272	182590272	+	Missense_Mutation	SNP	C	G	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr3:182590272C>G	uc003flb.3	+	17	2252	c.1995C>G	c.(1993-1995)ttC>ttG	p.F665L	ATP11B_uc003flc.3_Missense_Mutation_p.F249L|ATP11B_uc011bqm.1_5'UTR|ATP11B_uc010hxf.1_5'Flank	NM_014616	NP_055431	Q9Y2G3	AT11B_HUMAN	Homo sapiens ATPase, class VI, type 11B (ATP11B), mRNA.	665					ATP biosynthetic process|aminophospholipid transport	integral to membrane|nuclear inner membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	41	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20)			CAGCTGTTTTCCAGTTCATAG	0.363000														112			5		0	0	0.000602214	0	0
UNC5C	8633	broad.mit.edu	37	4	96163628	96163628	+	Missense_Mutation	SNP	C	G	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr4:96163628C>G	uc003hto.3	-	6	1413	c.1060G>C	c.(1060-1062)Ggc>Cgc	p.G354R	UNC5C_uc010ilc.2_Missense_Mutation_p.G354R|UNC5C_uc003htq.3_Missense_Mutation_p.G354R	NM_003728	NP_003719	O95185	UNC5C_HUMAN	Homo sapiens unc-5 homolog C (C. elegans) (UNC5C), mRNA.	354	TSP type-1 2.				apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		AAGACGAGGCCGTCGCAGTCC	0.557000														47			4		0	0	0.000157383	0	0
TBRG1	84897	broad.mit.edu	37	11	124501992	124501992	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr11:124501992C>T	uc001qak.4	+	8	1332	c.1094C>T	c.(1093-1095)tCc>tTc	p.S365F	TBRG1_uc001qaj.4_Missense_Mutation_p.S214F|TBRG1_uc009zbf.3_Non-coding_Transcript|TBRG1_uc001qal.4_Missense_Mutation_p.S141F|TBRG1_uc009zbh.3_Missense_Mutation_p.S141F	NM_032811	NP_116200	Q3YBR2	TBRG1_HUMAN	Homo sapiens transforming growth factor beta regulator 1 (TBRG1), transcript variant 1, mRNA.	365					DNA replication|cell cycle arrest|negative regulation of cell proliferation|nucleolus to nucleoplasm transport|protein stabilization	nucleus	DNA binding|protein binding			kidney(1)|prostate(1)	2	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0218)		TCTCCAGGATCCTTGGACCTC	0.483000														110			28		0	0	0.000147802	0	0
NPC1L1	29881	broad.mit.edu	37	7	44561402	44561402	+	Silent	SNP	C	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr7:44561402C>A	uc003tlb.3	-	11	2918	c.2862G>T	c.(2860-2862)gtG>gtT	p.V954V	NPC1L1_uc011kbw.2_Silent_p.V908V|NPC1L1_uc003tlc.3_Silent_p.V954V|NPC1L1_uc003tla.3_5'Flank	NM_013389	NP_037521	Q9UHC9	NPCL1_HUMAN	Homo sapiens NPC1 (Niemann-Pick disease, type C1, gene)-like 1 (NPC1L1), transcript variant 1, mRNA.	954					cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	TGAAGTCATCCACCCAGGAGG	0.602000														63			6		0.000274275	0.00385584	0.000274275	1	0
AK302306	0	broad.mit.edu	37	15	28599954	28599954	+	Silent	SNP	A	G	G	rs144345425	by1000genomes	TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr15:28599954A>G	uc010uaf.1	-	3	306	c.288T>C	c.(286-288)ctT>ctC	p.L96L	DQ595648_uc021sgj.1_5'Flank					SubName: Full=Uncharacterized protein; SubName: Full=cDNA FLJ59579, weakly similar to Homo sapiens golgi autoantigen, golgin subfamily a-like, mRNA;																		GGCTGTAGTAAAGTGCCATCT	0.478000														211			6		0	0	0.000157383	0	0
HOXA9	3205	broad.mit.edu	37	7	27205056	27205056	+	Silent	SNP	C	G	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr7:27205056C>G	uc003syt.3	-	0	94	c.21G>C	c.(19-21)ctG>ctC	p.L7L	HOXA9_uc022aar.1_Intron	NM_152739	NP_689952	P31269	HXA9_HUMAN	Homo sapiens homeobox A9 (HOXA9), mRNA.	7							protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(1)|lung(5)|prostate(1)	8						AGTAGTTGCCCAGGGCCCCAG	0.672000			T	"""NUP98, MSI2"""	AML*									15			3		0	0	0.000602214	0	0
LYZL1	84569	broad.mit.edu	37	10	29578079	29578079	+	Silent	SNP	G	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr10:29578079G>A	uc001iul.3	+	0	90	c.33G>A	c.(31-33)ccG>ccA	p.P11P		NM_032517	NP_115906	Q6UWQ5	LYZL1_HUMAN	Homo sapiens lysozyme-like 1 (LYZL1), mRNA.	0					cell wall macromolecule catabolic process	extracellular region	lysozyme activity			central_nervous_system(1)|cervix(2)|large_intestine(2)|lung(5)|skin(1)	11		Breast(68;0.203)				GCCTGTCACCGACTAAGTGGA	0.502000														31			5		0	0	8.12818e-05	0	0
WNT5B	81029	broad.mit.edu	37	12	1742018	1742018	+	Nonsense_Mutation	SNP	G	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr12:1742018G>A	uc009zdq.3	+	2	517	c.275G>A	c.(274-276)tGg>tAg	p.W92*	WNT5B_uc001qjj.3_Nonsense_Mutation_p.W92*|WNT5B_uc001qjk.3_Nonsense_Mutation_p.W92*|WNT5B_uc001qjl.3_Nonsense_Mutation_p.W92*	NM_032642	NP_116031	Q9H1J7	WNT5B_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 5B (WNT5B), transcript variant 1, mRNA.	92					Wnt receptor signaling pathway, calcium modulating pathway|angiogenesis|anterior/posterior pattern formation|cell migration involved in gastrulation|cellular response to retinoic acid|chondrocyte differentiation|convergent extension involved in axis elongation|convergent extension involved in gastrulation|dorsal/ventral axis specification|endocrine pancreas development|fat cell differentiation|lens fiber cell development|negative regulation of canonical Wnt receptor signaling pathway|neuron differentiation|positive regulation of cell migration|positive regulation of fat cell differentiation|respiratory system development	extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled-2 binding			skin(1)	1	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00109)			CAGCGGCGGTGGAATTGCAGC	0.562000														137			6		0	0	0.000442599	0	0
BAP1	8314	broad.mit.edu	37	3	52438469	52438469	+	Splice_Site	SNP	C	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr3:52438469C>A	uc003ddx.3	-	12	1365	c.1250_splice	c.e12+1	p.R417_splice	BAP1_uc003ddw.3_5'Flank|BAP1_uc010hmg.3_5'Flank|BAP1_uc010hmh.3_Splice_Site	NM_004656	NP_004647	Q92560	BAP1_HUMAN	Homo sapiens BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase) (BAP1), mRNA.	417					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			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)		CTGGGCTGACCTAAGGGCAGA	0.527000			"""N, Mis, F, S, O"""		"""uveal melanoma, breast, NSCLC, RCC"""	"""mesothelioma, uveal melanoma"""								45			5		1.23904e-05	0.000213182	0.000602214	1	0
GORAB	92344	broad.mit.edu	37	1	170501358	170501358	+	Silent	SNP	C	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:170501358C>A	uc001gha.2	+	0	96	c.69C>A	c.(67-69)ccC>ccA	p.P23P	GORAB_uc009wvw.2_Silent_p.P23P|GORAB_uc001ggz.4_Silent_p.P23P|GORAB_uc009wvx.2_5'UTR|GORAB_uc001ghb.2_5'UTR	NM_152281	NP_689494	Q5T7V8	GORAB_HUMAN	Homo sapiens golgin, RAB6-interacting (GORAB), transcript variant 1, mRNA.	23						Golgi apparatus|nucleus				endometrium(2)|large_intestine(3)|liver(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	17						GCCGGTGGCCCGGGCCGATGG	0.572000														123			7		0.000274275	0.00385584	0.000274275	1	0
LIMA1	51474	broad.mit.edu	37	12	50615931	50615931	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr12:50615931G>A	uc001rwj.4	-	3	677	c.503C>T	c.(502-504)tCc>tTc	p.S168F	LIMA1_uc001rwh.4_Missense_Mutation_p.S8F|LIMA1_uc001rwi.4_Missense_Mutation_p.S8F|LIMA1_uc001rwk.4_Missense_Mutation_p.S168F|LIMA1_uc010sms.2_Non-coding_Transcript|LIMA1_uc010smr.2_Non-coding_Transcript	NM_016357	NP_001230704	Q9UHB6	LIMA1_HUMAN	Homo sapiens LIM domain and actin binding 1 (LIMA1), transcript variant 2, mRNA.	168					actin filament bundle assembly|negative regulation of actin filament depolymerization|ruffle organization	cytoplasm|focal adhesion|stress fiber	actin filament binding|actin monomer binding|zinc ion binding			NS(1)|breast(4)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(2)	44						TTCATGCCTGGATTCTCCTAG	0.403000														166			10		0	0	6.40141e-05	0	0
CDC42	998	broad.mit.edu	37	1	22413312	22413312	+	Missense_Mutation	SNP	C	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:22413312C>A	uc001bfq.3	+	5	731	c.439C>A	c.(439-441)Cgt>Agt	p.R147S	CDC42_uc009vqg.1_Missense_Mutation_p.R147S|CDC42_uc001bfp.3_Missense_Mutation_p.R147S|CDC42_uc009vqh.3_Missense_Mutation_p.R106S|CDC42_uc001bfr.3_Missense_Mutation_p.R147S|CDC42_uc010odr.2_Missense_Mutation_p.R192S|CDC42_uc010ods.2_Missense_Mutation_p.R189S	NM_001039802	NP_001782	P60953	CDC42_HUMAN	Homo sapiens cell division cycle 42 (GTP binding protein, 25kDa) (CDC42), transcript variant 3, mRNA.	147					T cell costimulation|actin cytoskeleton organization|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|establishment or maintenance of cell polarity|macrophage differentiation|muscle cell differentiation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of protein complex assembly|positive regulation of muscle cell differentiation|positive regulation of pseudopodium assembly|regulation of filopodium assembly|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|plasma membrane	GTP binding|GTPase activity|protein binding|thioesterase binding	p.R147S(2)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(4)	12		Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;6.55e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)|Prostate(1639;0.0792)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0452)|OV - Ovarian serous cystadenocarcinoma(117;7.32e-26)|Colorectal(126;1.35e-07)|COAD - Colon adenocarcinoma(152;7.73e-06)|GBM - Glioblastoma multiforme(114;8.62e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000649)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00767)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.207)		AAAGCTGGCCCGTGACCTGAA	0.448000														191			9		2.31682e-05	0.000392345	0.000308642	1	0
ARID1B	57492	broad.mit.edu	37	6	157505535	157505535	+	Silent	SNP	C	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr6:157505535C>A	uc003qqp.3	+	11	3477	c.3477C>A	c.(3475-3477)acC>acA	p.T1159T	ARID1B_uc003qqo.3_Silent_p.T1172T|ARID1B_uc003qqn.3_Silent_p.T1212T	NM_017519	NP_059989	Q8NFD5	ARI1B_HUMAN	Homo sapiens AT rich interactive domain 1B (SWI1-like) (ARID1B), transcript variant 1, mRNA.	1159					chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		CCGGGGACACCAAAAAGCAGC	0.612000														48			5		7.48243e-07	1.38262e-05	0.000442599	1	0
ENO1	2023	broad.mit.edu	37	1	8922989	8922989	+	Missense_Mutation	SNP	G	C	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:8922989G>C	uc001apj.2	-	10	1714	c.1192C>G	c.(1192-1194)Cct>Gct	p.P398A	ENO1_uc001api.2_Missense_Mutation_p.P305A	NM_001428	NP_001188412	P06733	ENOA_HUMAN	Homo sapiens enolase 1, (alpha) (ENO1), transcript variant 1, mRNA.	398					gluconeogenesis|glycolysis|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|response to virus	phosphopyruvate hydratase complex|plasma membrane|sarcomere	DNA binding|magnesium ion binding|phosphopyruvate hydratase activity|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	10	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;2.54e-20)|all_lung(118;2.99e-06)|Lung NSC(185;6.25e-06)|Renal(390;0.000147)|Breast(348;0.00086)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.42e-07)|COAD - Colon adenocarcinoma(227;2.78e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642)		GATCGGCAAGGGGCACCAGTC	0.562000											OREG0013068	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		42			4		0	0	0.000602214	0	0
AHRR	57491	broad.mit.edu	37	5	354006	354006	+	Missense_Mutation	SNP	G	C	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr5:354006G>C	uc003jav.3	+	2	279	c.236G>C	c.(235-237)cGg>cCg	p.R79P	AHRR_uc003jaw.3_Missense_Mutation_p.R79P|AHRR_uc010isy.3_Intron|AHRR_uc010isz.3_Missense_Mutation_p.R75P	NM_020731	NP_065782	A9YTQ3	AHRR_HUMAN	Homo sapiens aryl-hydrocarbon receptor repressor (AHRR), transcript variant 1, mRNA.	79	Helix-loop-helix motif.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(2)|endometrium(4)|large_intestine(1)|lung(12)|prostate(1)	20			Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)			AGTTACCTCCGGGTGAAGAGC	0.597000														92			5		0	0	8.12818e-05	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140745299	140745299	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr5:140745299G>A	uc003lju.2	+	0	1402	c.1402G>A	c.(1402-1404)Ggt>Agt	p.G468S	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc011das.2_Missense_Mutation_p.G468S	NM_018918	NP_061741	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 5 (PCDHGA5), transcript variant 1, mRNA.	470	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAATCCCAGAGGTGTCTCTAT	0.537000														196			17		0	0	0.000422831	0	0
SLCO1B3	28234	broad.mit.edu	37	12	21032535	21032535	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr12:21032535C>T	uc010sil.2	+	8	1366	c.1301C>T	c.(1300-1302)tCa>tTa	p.S434L	SLCO1B3_uc001rek.3_Missense_Mutation_p.S434L|SLCO1B3_uc001rel.3_Missense_Mutation_p.S434L|SLCO1B3_uc010sim.2_Intron			Q9NPD5	SO1B3_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 1B3 (SLCO1B3), mRNA.	434					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity	p.S434L(2)		breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)					GAAAGCAAATCAGTTGCCGGC	0.313000														130			13		0	0	0.000219431	0	0
NBPF10	100132406	broad.mit.edu	37	1	145296373	145296373	+	Missense_Mutation	SNP	G	T	T	rs3969711		TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:145296373G>T	uc021oul.1	+	2	330	c.295G>T	c.(295-297)Gtt>Ttt	p.V99F	NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|NBPF10_uc021ouk.1_Missense_Mutation_p.V99F|NBPF10_uc001emq.1_Intron	NM_001039703	NP_001034792	A6NDV3	A6NDV3_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 10 (NBPF10), mRNA.	99								p.V99F(2)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		TAAAGTCCTAGTTCACTCTCA	0.473000														172			14		1.37285e-15	2.7239e-14	0.000422831	1	0
NHLRC1	378884	broad.mit.edu	37	6	18122653	18122653	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr6:18122653C>T	uc003ncl.1	-	0	199	c.185G>A	c.(184-186)cGc>cAc	p.R62H		NM_198586	NP_940988	Q6VVB1	NHLC1_HUMAN	Homo sapiens NHL repeat containing 1 (NHLRC1), mRNA.	62					proteasomal ubiquitin-dependent protein catabolic process|protein polyubiquitination	endoplasmic reticulum|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|kidney(1)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(2)	11	Ovarian(93;0.016)|Breast(50;0.0245)	all_hematologic(90;0.165)	all cancers(50;0.0451)|Epithelial(50;0.0493)			GGCCAGAGTGCGCGGGTGCGC	0.701000														16			4		0	0	0.00024832	0	0
ITGA6	3655	broad.mit.edu	37	2	173368867	173368867	+	Missense_Mutation	SNP	C	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr2:173368867C>A	uc002uhp.1	+	24	3366	c.3163C>A	c.(3163-3165)Cat>Aat	p.H1055N	ITGA6_uc010zdy.1_3'UTR|ITGA6_uc002uho.1_3'UTR|ITGA6_uc010fqm.1_3'UTR	NM_001079818	NP_001073286	P23229	ITA6_HUMAN	Homo sapiens integrin, alpha 6 (ITGA6), transcript variant 1, mRNA.	1094					blood coagulation|cell adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter	integrin complex	protein binding|receptor activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	44			OV - Ovarian serous cystadenocarcinoma(117;0.0979)			TCCCCGATACCATGCTGTAAG	0.383000														11			5		8.12818e-05	0.00127893	8.12818e-05	1	0
RAB34	83871	broad.mit.edu	37	17	27042228	27042228	+	Silent	SNP	G	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr17:27042228G>T	uc010was.1	-	7	670	c.669C>A	c.(667-669)tcC>tcA	p.S223S	RAB34_uc002hce.2_Silent_p.S166S|RAB34_uc002hcg.2_Intron|RAB34_uc010wat.1_Intron|RAB34_uc002hch.2_Silent_p.S166S|RAB34_uc010wau.1_Silent_p.S144S|RAB34_uc010wav.1_Silent_p.S224S	NM_001144943	NP_114140	Q9BZG1	RAB34_HUMAN	Homo sapiens RAB34, member RAS oncogene family (RAB34), transcript variant 8, mRNA.	166					protein transport|small GTPase mediated signal transduction	Golgi apparatus	GTP binding			endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|skin(2)	14	Lung NSC(42;0.00431)					GATCCTTCTTGGAACCTACAA	0.577000														51			5		0.000157383	0.00233702	0.000157383	1	0
AACS	65985	broad.mit.edu	37	12	125591750	125591750	+	Missense_Mutation	SNP	C	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr12:125591750C>A	uc001uhc.3	+	7	1057	c.851C>A	c.(850-852)cCa>cAa	p.P284Q	AACS_uc009zyg.2_Non-coding_Transcript|AACS_uc001uhd.3_Missense_Mutation_p.P284Q|AACS_uc009zyh.3_Non-coding_Transcript|AACS_uc009zyi.3_5'UTR	NM_023928	NP_076417	Q86V21	AACS_HUMAN	Homo sapiens acetoacetyl-CoA synthetase (AACS), mRNA.	284					fatty acid metabolic process	cytosol	ATP binding|acetoacetate-CoA ligase activity			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|liver(1)|lung(16)|ovary(1)|stomach(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;9.82e-05)|Epithelial(86;0.000642)|all cancers(50;0.00843)		TTCAGCCACCCACTGTTCATC	0.617000														62			6		5.18039e-06	9.16098e-05	0.000157383	1	0
ABCC9	10060	broad.mit.edu	37	12	22059062	22059062	+	Missense_Mutation	SNP	G	C	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr12:22059062G>C	uc001rfh.3	-	9	1636	c.1616C>G	c.(1615-1617)tCc>tGc	p.S539C	ABCC9_uc001rfi.1_Missense_Mutation_p.S539C	NM_020297	NP_064693	O60706	ABCC9_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 9 (ABCC9), transcript variant SUR2B, mRNA.	539	ABC transmembrane type-1 1.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	CAACTTACTGGAGAGTGATGT	0.373000														64			4		0	0	3.59834e-05	0	0
FAM221A	340277	broad.mit.edu	37	7	23740479	23740479	+	Missense_Mutation	SNP	C	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr7:23740479C>A	uc003swo.4	+	5	909	c.820C>A	c.(820-822)Cag>Aag	p.Q274K	FAM221A_uc003swq.4_Missense_Mutation_p.Q238K|FAM221A_uc003swr.4_Missense_Mutation_p.Q180K|FAM221A_uc003swp.4_Non-coding_Transcript|FAM221A_uc010kup.3_Non-coding_Transcript	NM_199136	NP_954587	A4D161	CG046_HUMAN	Homo sapiens chromosome 7 open reading frame 46 (C7orf46), transcript variant 1, mRNA.	274																	AAGACGATACCAGGAAAGGGT	0.348000														333			16		0.000295444	0.0041451	0.000295444	1	0
DCUN1D4	23142	broad.mit.edu	37	4	52752797	52752797	+	Missense_Mutation	SNP	C	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr4:52752797C>A	uc011bzo.2	+	5	546	c.539C>A	c.(538-540)cCa>cAa	p.P180Q	DCUN1D4_uc003gze.3_Missense_Mutation_p.P136Q|DCUN1D4_uc003gzf.3_Missense_Mutation_p.P136Q|DCUN1D4_uc011bzn.2_Missense_Mutation_p.P76Q|DCUN1D4_uc003gzg.3_Non-coding_Transcript|DCUN1D4_uc003gzh.3_Non-coding_Transcript	NM_001040402	NP_001035492	Q92564	DCNL4_HUMAN	Homo sapiens DCN1, defective in cullin neddylation 1, domain containing 4 (S. cerevisiae) (DCUN1D4), transcript variant 1, mRNA.	136	DCUN1.									endometrium(2)|large_intestine(2)|lung(2)|ovary(2)|skin(1)	9			GBM - Glioblastoma multiforme(4;1.93e-11)|LUSC - Lung squamous cell carcinoma(32;0.00654)			GGTGTTGAACCAGAAAACGTG	0.328000														61			7		0.000673444	0.00850193	0.000673444	1	0
TXNDC11	51061	broad.mit.edu	37	16	11830038	11830038	+	Silent	SNP	G	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr16:11830038G>A	uc010buu.1	-	1	368	c.306C>T	c.(304-306)tcC>tcT	p.S102S	TXNDC11_uc002dbg.1_Silent_p.S102S	NM_015914	NP_056998	Q6PKC3	TXD11_HUMAN	Homo sapiens thioredoxin domain containing 11 (TXNDC11), mRNA.	102	Thioredoxin 1.				cell redox homeostasis	endoplasmic reticulum membrane|integral to membrane				endometrium(3)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						GAGACCTCAAGGAGAAAAAGC	0.448000														45			6		0	0	3.59834e-05	0	0
SLC37A2	219855	broad.mit.edu	37	11	124953734	124953734	+	Missense_Mutation	SNP	G	C	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr11:124953734G>C	uc010sau.2	+	10	1251	c.1000G>C	c.(1000-1002)Ggg>Cgg	p.G334R	SLC37A2_uc001qbn.3_Missense_Mutation_p.G334R|SLC37A2_uc010sav.1_5'UTR|SLC37A2_uc001qbp.3_5'UTR	NM_198277	NP_938018	Q8TED4	SPX2_HUMAN	Homo sapiens solute carrier family 37 (glycerol-3-phosphate transporter), member 2 (SLC37A2), transcript variant 1, mRNA.	334					carbohydrate transport|transmembrane transport	integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	27	all_hematologic(175;0.215)	Breast(109;0.012)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.152)|all_lung(97;0.159)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0384)		CAAGGAGGCTGGGGACCTGTC	0.562000														67			4		0	0	0.00024832	0	0
KIAA0232	9778	broad.mit.edu	37	4	6826400	6826400	+	Silent	SNP	C	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr4:6826400C>T	uc003gjr.4	+	2	683	c.220C>T	c.(220-222)Ctg>Ttg	p.L74L	KIAA0232_uc003gjq.4_Silent_p.L74L	NM_014743	NP_055558	Q92628	K0232_HUMAN	Homo sapiens KIAA0232 (KIAA0232), transcript variant 1, mRNA.	74							ATP binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(12)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	41						TGACTACGACCTGCAGGAACA	0.393000														65			7		0	0	0.000274275	0	0
SUN1	23353	broad.mit.edu	37	7	896021	896021	+	Silent	SNP	C	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr7:896021C>A	uc021zym.1	+	11	1397	c.1377C>A	c.(1375-1377)acC>acA	p.T459T	GET4_uc003sjj.1_Non-coding_Transcript|SUN1_uc011jvq.2_Silent_p.T356T|SUN1_uc003sjf.3_Silent_p.T376T|SUN1_uc003sjg.3_Silent_p.T364T|SUN1_uc011jvr.2_Silent_p.T257T|SUN1_uc003sji.3_Silent_p.T297T|SUN1_uc003sjk.3_Silent_p.T98T	NM_001130965	NP_001124437	O94901	SUN1_HUMAN	Homo sapiens Sad1 and UNC84 domain containing 1 (SUN1), transcript variant 1, mRNA.	486					cytoskeletal anchoring at nuclear membrane|nuclear matrix anchoring at nuclear membrane	SUN-KASH complex|integral to membrane|nuclear inner membrane	protein binding			NS(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TAGAACAGACCAAGCAAAAAA	0.378000														96			8		0.000673444	0.00850193	0.000673444	1	0
ISM1	140862	broad.mit.edu	37	20	13251353	13251353	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr20:13251353C>T	uc010gce.1	+	1	347	c.341C>T	c.(340-342)tCc>tTc	p.S114F	TASP1_uc010zri.1_Intron	NM_080826	NP_543016	B1AKI9	ISM1_HUMAN	Homo sapiens isthmin 1 homolog (zebrafish) (ISM1), mRNA.	114						extracellular region				NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(8)|lung(5)|urinary_tract(1)	17						CCAGATCTTTCCAAAGCTGAT	0.443000														66			5		0	0	0.000602214	0	0
KIAA0232	9778	broad.mit.edu	37	4	6865640	6865640	+	Silent	SNP	C	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr4:6865640C>A	uc003gjr.4	+	6	3994	c.3531C>A	c.(3529-3531)ccC>ccA	p.P1177P	KIAA0232_uc003gjq.4_Silent_p.P1177P	NM_014743	NP_055558	Q92628	K0232_HUMAN	Homo sapiens KIAA0232 (KIAA0232), transcript variant 1, mRNA.	1177							ATP binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(12)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	41						AATTCCTTCCCAGGTTAAAAA	0.423000														105			8		1.58986e-06	2.88444e-05	0.000673444	1	0
MGC70870	403340	broad.mit.edu	37	GL000205.1	118173	118173	+	RNA	SNP	A	G	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chrGL000205.1:118173A>G	uc002kgk.4	+	0		c.1551A>G								Homo sapiens C-terminal binding protein 2 pseudogene (MGC70870), non-coding RNA.																		GAGATCCGCCAAGCCATCATA	0.493000														75			10		0	0	0.000442599	0	0
VPS35	55737	broad.mit.edu	37	16	46710538	46710538	+	Missense_Mutation	SNP	G	C	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr16:46710538G>C	uc002eef.4	-	7	970	c.871C>G	c.(871-873)Cag>Gag	p.Q291E	VPS35_uc002eed.3_Missense_Mutation_p.Q112E|VPS35_uc002eee.3_Missense_Mutation_p.Q252E	NM_018206	NP_060676	Q96QK1	VPS35_HUMAN	Homo sapiens vacuolar protein sorting 35 homolog (S. cerevisiae) (VPS35), mRNA.	291					protein transport|retrograde transport, endosome to Golgi	cytosol|endosome|membrane	protein binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|pancreas(1)|prostate(1)|urinary_tract(1)	23		all_cancers(37;7.65e-05)|all_epithelial(9;0.000154)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				TTTACATTCTGGTGTAACTCA	0.353000														68			6		0	0	8.12818e-05	0	0
PDE1A	5136	broad.mit.edu	37	2	183066203	183066203	+	Missense_Mutation	SNP	C	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr2:183066203C>A	uc002uos.3	-	10	1220	c.1136G>T	c.(1135-1137)cGg>cTg	p.R379L	PDE1A_uc010zfp.1_Missense_Mutation_p.R275L|PDE1A_uc002uoq.1_Missense_Mutation_p.R379L|PDE1A_uc010zfq.1_Missense_Mutation_p.R379L|PDE1A_uc002uor.3_Missense_Mutation_p.R363L|PDE1A_uc002uou.3_Missense_Mutation_p.R345L	NM_001003683	NP_001003683	P54750	PDE1A_HUMAN	Homo sapiens phosphodiesterase 1A, calmodulin-dependent (PDE1A), transcript variant 2, mRNA.	379	Catalytic (By similarity).				activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2)	35			OV - Ovarian serous cystadenocarcinoma(117;0.061)			CATGGTCCACCGATAATGCAG	0.488000														81			7		0.000442599	0.00580232	0.000442599	1	0
CAPSL	133690	broad.mit.edu	37	5	35910013	35910013	+	Silent	SNP	C	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr5:35910013C>T	uc003jjt.1	-	3	575	c.480G>A	c.(478-480)agG>agA	p.R160R	CAPSL_uc003jju.1_Silent_p.R160R	NM_001042625	NP_653248	Q8WWF8	CAPSL_HUMAN	Homo sapiens calcyphosine-like (CAPSL), transcript variant 2, mRNA.	160	EF-hand 4.					cytoplasm	calcium ion binding			central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(10)|skin(1)|urinary_tract(1)	19	all_lung(31;0.000268)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.167)|Colorectal(62;0.202)			CCAGAAATTTCCTAAATACTT	0.368000														140			13		0	0	0.000566183	0	0
TET1	80312	broad.mit.edu	37	10	70441237	70441237	+	Missense_Mutation	SNP	C	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr10:70441237C>A	uc001jok.4	+	8	5411	c.4906C>A	c.(4906-4908)Caa>Aaa	p.Q1636K		NM_030625	NP_085128	Q8NFU7	TET1_HUMAN	Homo sapiens tet methylcytosine dioxygenase 1 (TET1), mRNA.	1636					DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						AGTAGCTTACCAAAATCAGGT	0.373000														46			7		0.000274275	0.00385584	0.000274275	1	0
NRXN1	9378	broad.mit.edu	37	2	50318542	50318542	+	Missense_Mutation	SNP	G	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr2:50318542G>T	uc021vhh.1	-	17	4558	c.3637C>A	c.(3637-3639)Cat>Aat	p.H1213N	NRXN1_uc010fbp.3_Missense_Mutation_p.H178N|NRXN1_uc002rxb.4_Missense_Mutation_p.H885N|NRXN1_uc021vhg.1_Missense_Mutation_p.H1253N|NRXN1_uc021vhi.1_Missense_Mutation_p.H1249N|NRXN1_uc021vhj.1_Missense_Mutation_p.H1209N	NM_004801	NP_004792	Q9ULB1	NRX1A_HUMAN	Homo sapiens neurexin 1 (NRXN1), transcript variant alpha1, mRNA.	1213	Laminin G-like 6.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			CGAACTACATGGTATTTCCCA	0.458000														93			6		0.000673444	0.00850193	0.000673444	1	0
abParts	0	broad.mit.edu	37	14	107099579	107099579	+	RNA	SNP	C	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr14:107099579C>A	uc021ser.1	-	104		c.4613G>T								Parts of antibodies, mostly variable regions.																		CAGCTCAGCCCAAACTCCATG	0.498000														224			9		4.7546e-09	9.24999e-08	0.000422831	1	0
GNA12	2768	broad.mit.edu	37	7	2771073	2771073	+	Missense_Mutation	SNP	G	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr7:2771073G>T	uc003smu.3	-	3	1052	c.888C>A	c.(886-888)aaC>aaA	p.N296K	GNA12_uc011jwb.2_Missense_Mutation_p.N279K|GNA12_uc003smt.3_Missense_Mutation_p.N237K	NM_007353	NP_031379	Q03113	GNA12_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein) alpha 12 (GNA12), mRNA.	296					G-protein signaling, coupled to cAMP nucleotide second messenger|Rho protein signal transduction|platelet activation	brush border membrane|heterotrimeric G-protein complex	D5 dopamine receptor binding|G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|signal transducer activity			endometrium(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;1.02e-13)		GGTCCATCTTGTTGAGGAAGA	0.562000														107			7		0.000673444	0.00850193	0.000673444	1	0
PLCB4	5332	broad.mit.edu	37	20	9288501	9288501	+	Missense_Mutation	SNP	C	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr20:9288501C>A	uc021wam.1	+	0	55	c.40C>A	c.(40-42)Ccc>Acc	p.P14T	PLCB4_uc010gbw.1_Missense_Mutation_p.P14T|PLCB4_uc010gbx.3_Missense_Mutation_p.P14T|PLCB4_uc021wal.1_Missense_Mutation_p.P14T	NM_000933	NP_000924	Q15147	PLCB4_HUMAN	Homo sapiens phospholipase C, beta 4 (PLCB4), transcript variant 1, mRNA.	14					intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						GAAGGAAGTTCCCTCCTTTTT	0.299000														78			6		0.000673444	0.00850193	0.000673444	1	0
HCN1	348980	broad.mit.edu	37	5	45262155	45262155	+	Silent	SNP	C	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr5:45262155C>A	uc003jok.3	-	7	2566	c.2541G>T	c.(2539-2541)tcG>tcT	p.S847S		NM_021072	NP_066550	O60741	HCN1_HUMAN	Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 1 (HCN1), mRNA.	847						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	p.S847S(2)		NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						GGATGGCTCCCGACGACATCT	0.647000														89			5		8.12818e-05	0.00127893	8.12818e-05	1	0
DNMT1	1786	broad.mit.edu	37	19	10249209	10249209	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr19:10249209G>A	uc002mng.3	-	33	4153	c.3973C>T	c.(3973-3975)Cct>Tct	p.P1325S	DNMT1_uc002mnf.3_Missense_Mutation_p.P249S|DNMT1_uc010xlc.2_Missense_Mutation_p.P1341S|DNMT1_uc002mnh.3_Missense_Mutation_p.P1220S|DNMT1_uc010xld.2_Missense_Mutation_p.P1325S	NM_001379	NP_001370	P26358	DNMT1_HUMAN	Homo sapiens DNA (cytosine-5-)-methyltransferase 1 (DNMT1), transcript variant 2, mRNA.	1325	Catalytic.|Interaction with the PRC2/EED-EZH2 complex (By similarity).				chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding			breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)	GGGAACAGAGGGAGCTTCTCT	0.637000														71			14		0	0	0.000151284	0	0
MASTL	84930	broad.mit.edu	37	10	27470490	27470490	+	Missense_Mutation	SNP	C	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr10:27470490C>A	uc001itm.3	+	10	3065	c.2462C>A	c.(2461-2463)aCa>aAa	p.T821K	MASTL_uc001itl.3_Missense_Mutation_p.T820K|MASTL_uc009xkw.2_Missense_Mutation_p.T782K|MASTL_uc009xkx.2_Non-coding_Transcript	NM_001172303	NP_001165774	Q96GX5	GWL_HUMAN	Homo sapiens microtubule associated serine/threonine kinase-like (MASTL), transcript variant 1, mRNA.	821	Protein kinase.				G2/M transition of mitotic cell cycle|cell division|mitosis|negative regulation of protein phosphatase type 2A activity|regulation of cell cycle|response to DNA damage stimulus	centrosome|cleavage furrow|nucleus	ATP binding|protein phosphatase 2A binding|protein serine/threonine kinase activity			breast(3)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						ATTGATGATACAAAGAGAGCT	0.313000														152			8		0.000274275	0.00385584	0.000274275	1	0
LDHAL6A	160287	broad.mit.edu	37	11	18500303	18500303	+	Silent	SNP	G	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr11:18500303G>T	uc001mop.1	+	7	1146	c.885G>T	c.(883-885)ctG>ctT	p.L295L	LDHAL6A_uc001moq.2_Silent_p.L295L	NM_001144071	NP_659409	Q6ZMR3	LDH6A_HUMAN	Homo sapiens lactate dehydrogenase A-like 6A (LDHAL6A), transcript variant 2, mRNA.	295					glycolysis	cytoplasm	L-lactate dehydrogenase activity|binding			large_intestine(3)|lung(9)|urinary_tract(1)	13					NADH(DB00157)	CATGTATCCTGGGAGAGAATG	0.378000														217			9		1.58986e-06	2.88444e-05	0.000673444	1	0
KIF11	3832	broad.mit.edu	37	10	94368822	94368822	+	Nonsense_Mutation	SNP	G	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr10:94368822G>T	uc001kic.3	+	4	741	c.433G>T	c.(433-435)Gag>Tag	p.E145*		NM_004523	NP_004514	P52732	KIF11_HUMAN	Homo sapiens kinesin family member 11 (KIF11), mRNA.	145	Kinesin-motor.				blood coagulation|cell division|microtubule-based movement|spindle assembly involved in mitosis	chromatin remodeling complex|cytosol|kinesin complex|microtubule|spindle pole	ATP binding|microtubule motor activity|protein kinase binding	p.F144I(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TCAAATTTTTGAGAAACTTAC	0.343000														487			15		5.35267e-07	9.99641e-06	9.7654e-05	1	0
MGAM	8972	broad.mit.edu	37	7	141797449	141797449	+	Splice_Site	SNP	G	C	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr7:141797449G>C	uc003vwy.3	+	43	5115	c.5061_splice	c.e43+1	p.T1687_splice		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	1687	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	ATTACTACACGGTAAGTTTTT	0.413000														66			5		0	0	0.000157383	0	0
NRP2	8828	broad.mit.edu	37	2	206588559	206588559	+	Missense_Mutation	SNP	C	G	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr2:206588559C>G	uc002vaw.3	+	4	1506	c.715C>G	c.(715-717)Cgt>Ggt	p.R239G	NRP2_uc002vat.3_Missense_Mutation_p.R239G|NRP2_uc002vau.3_Missense_Mutation_p.R239G|NRP2_uc002vav.3_Missense_Mutation_p.R239G|NRP2_uc002vax.3_Missense_Mutation_p.R239G|NRP2_uc002vay.3_Missense_Mutation_p.R239G|NRP2_uc010fud.3_Missense_Mutation_p.R239G	NM_201266	NP_957718	O60462	NRP2_HUMAN	Homo sapiens neuropilin 2 (NRP2), transcript variant 1, mRNA.	239	CUB 2.				angiogenesis|axon guidance|cell adhesion	integral to membrane|membrane fraction|plasma membrane	heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						CTCTGAACTTCGTTCATCGAC	0.517000														42			4		0	0	0.00024832	0	0
APBB2	323	broad.mit.edu	37	4	40832523	40832523	+	Missense_Mutation	SNP	G	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr4:40832523G>T	uc003gvn.3	-	12	2231	c.1601C>A	c.(1600-1602)cCa>cAa	p.P534Q	APBB2_uc010ifu.3_Missense_Mutation_p.P105Q|APBB2_uc003gvl.3_Missense_Mutation_p.P533Q|APBB2_uc003gvm.3_Missense_Mutation_p.P512Q|APBB2_uc003gvk.3_5'UTR|APBB2_uc021xnt.1_5'UTR	NM_004307	NP_004298	Q92870	APBB2_HUMAN	Homo sapiens amyloid beta (A4) precursor protein-binding, family B, member 2 (APBB2), transcript variant 1, mRNA.	533	PID 1.				cell cycle arrest|intracellular signal transduction|negative regulation of S phase of mitotic cell cycle|negative regulation of cell growth|regulation of transcription, DNA-dependent	growth cone|lamellipodium|membrane|nucleus|synapse	beta-amyloid binding|transcription factor binding	p.A534S(1)		central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|skin(2)|urinary_tract(1)	34						GGCTTTTGCTGGTGTGTCACA	0.423000														77			7		1.26484e-09	2.46759e-08	0.000157383	1	0
NEK1	4750	broad.mit.edu	37	4	170523180	170523180	+	Missense_Mutation	SNP	G	C	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr4:170523180G>C	uc003isd.2	-	3	771	c.193C>G	c.(193-195)Cag>Gag	p.Q65E	NEK1_uc003ise.2_Missense_Mutation_p.Q65E|NEK1_uc003isb.2_Missense_Mutation_p.Q65E|NEK1_uc003isc.2_Missense_Mutation_p.Q65E|NEK1_uc003isf.2_Missense_Mutation_p.Q65E|NEK1_uc003isg.1_5'Flank	NM_001199397	NP_001186326	Q96PY6	NEK1_HUMAN	Homo sapiens NIMA (never in mitosis gene a)-related kinase 1 (NEK1), transcript variant 1, mRNA.	65	Protein kinase.				cell division|cilium assembly|mitosis	nucleus|pericentriolar material	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|stomach(1)	45		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)|KIRC - Kidney renal clear cell carcinoma(143;0.0325)|Kidney(143;0.0385)|LUSC - Lung squamous cell carcinoma(193;0.14)		TCTCTATACTGGACAATATTT	0.318000														239			10		0	0	0.000566183	0	0
HIVEP1	3096	broad.mit.edu	37	6	12121787	12121787	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr6:12121787C>T	uc003nac.3	+	3	1938	c.1759C>T	c.(1759-1761)Ctt>Ttt	p.L587F	HIVEP1_uc011diq.2_Non-coding_Transcript	NM_002114	NP_002105	P15822	ZEP1_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 1 (HIVEP1), mRNA.	587					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				CAAGCCTGAACTTTCTAGTGC	0.498000														58			13		0	0	0.000308642	0	0
GPR98	84059	broad.mit.edu	37	5	89931017	89931017	+	Silent	SNP	G	C	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr5:89931017G>C	uc003kju.3	+	9	2022	c.1926G>C	c.(1924-1926)ctG>ctC	p.L642L	GPR98_uc003kjt.3_5'UTR	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	642					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TTTCTTTACTGGTTACTCCAG	0.378000														113			6		0	0	3.59834e-05	0	0
MUC13	56667	broad.mit.edu	37	3	124630955	124630955	+	Silent	SNP	C	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr3:124630955C>T	uc003ehq.2	-	8	1284	c.1245G>A	c.(1243-1245)aaG>aaA	p.K415K		NM_033049	NP_149038	Q9H3R2	MUC13_HUMAN	Homo sapiens mucin 13, cell surface associated (MUC13), mRNA.	415						extracellular region|integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)|stomach(1)	18						ACTCACTGTCCTTACAGTCGA	0.428000														44			5		0	0	0.000274275	0	0
ATP6V0E1	8992	broad.mit.edu	37	5	172447243	172447243	+	Missense_Mutation	SNP	G	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr5:172447243G>T	uc003mcd.1	+	2	256	c.155G>T	c.(154-156)tGg>tTg	p.W52L	SNORA74B_uc003mce.1_5'Flank	NM_003945	NP_003936	O15342	VA0E1_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal 9kDa, V0 subunit e1 (ATP6V0E1), mRNA.	52					ATP hydrolysis coupled proton transport|cell growth|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport|vacuolar acidification	endosome membrane|integral to membrane|membrane fraction|proton-transporting V-type ATPase, V0 domain|vacuole	proton-transporting ATPase activity, rotational mechanism			lung(2)	2	Renal(175;0.000159)|Lung NSC(126;0.00223)|all_lung(126;0.00391)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TCTTTTAGTTGGCTGATTGCA	0.403000														69			6		3.59834e-05	0.000594959	3.59834e-05	1	0
ATG7	10533	broad.mit.edu	37	3	11421450	11421450	+	Missense_Mutation	SNP	G	C	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr3:11421450G>C	uc003bwc.3	+	16	1997	c.1880G>C	c.(1879-1881)cGg>cCg	p.R627P	ATG7_uc003bwd.3_Intron|ATG7_uc011aum.2_Missense_Mutation_p.R588P	NM_006395	NP_006386	O95352	ATG7_HUMAN	Homo sapiens ATG7 autophagy related 7 homolog (S. cerevisiae) (ATG7), transcript variant 1, mRNA.	627					autophagy|cellular membrane fusion|positive regulation of protein modification process|protein lipidation|protein transport	cytoplasm	APG12 activating enzyme activity|protein homodimerization activity|ubiquitin activating enzyme activity	p.R627R(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	34						TTTTAGATCCGGGGATTTCTT	0.388000														110			5		0	0	0.000602214	0	0
SLC27A6	28965	broad.mit.edu	37	5	128359363	128359363	+	Silent	SNP	C	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr5:128359363C>A	uc003kuy.3	+	6	1611	c.1215C>A	c.(1213-1215)ccC>ccA	p.P405P	SLC27A6_uc003kuz.3_Silent_p.P405P	NM_014031	NP_054750	Q9Y2P4	S27A6_HUMAN	Homo sapiens solute carrier family 27 (fatty acid transporter), member 6 (SLC27A6), transcript variant 1, mRNA.	405					long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process	integral to membrane|sarcolemma	fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding			NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		AAGATGAACCCATGAGAAATG	0.338000														79			8		3.86212e-05	0.000634077	0.000673444	1	0
LRRC32	2615	broad.mit.edu	37	11	76376961	76376961	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr11:76376961G>A	uc001oxq.4	-	1	281	c.38C>T	c.(37-39)aCc>aTc	p.T13I	LRRC32_uc001oxr.4_Missense_Mutation_p.T13I|LRRC32_uc010rsf.2_Missense_Mutation_p.T13I	NM_005512	NP_005503	Q14392	LRC32_HUMAN	Homo sapiens leucine rich repeat containing 32 (LRRC32), transcript variant 1, mRNA.	13						integral to plasma membrane				endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1)	31						CAGGCCTAGGGTCAGCAGGGC	0.607000														106			6		0	0	6.40141e-05	0	0
C12orf32	83695	broad.mit.edu	37	12	2994699	2994700	+	Splice_Site	DNP	GG	TT	TT			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr12:2994699_2994700GG>TT	uc001qlh.3	+	2	336	c.168_splice	c.e2+1	p.W56_splice	TULP3_uc010sef.1_Intron|C12orf32_uc010see.2_Intron|C12orf32_uc001qli.3_Intron	NM_001252499	NP_001239428			Homo sapiens chromosome 12 open reading frame 32 (C12orf32), transcript variant 1, mRNA.											endometrium(1)|kidney(1)|lung(3)	5			OV - Ovarian serous cystadenocarcinoma(31;0.000622)			ATCACTTCCTGGGTAGGCCCAT	0.485000														87			6		0	0	6.4e-05	0	0
MBTPS2	51360	broad.mit.edu	37	X	21886591	21886591	+	Missense_Mutation	SNP	G	T	T	rs122468180		TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chrX:21886591G>T	uc004dae.3	+	5	874	c.677G>T	c.(676-678)tGg>tTg	p.W226L	MBTPS2_uc010nfr.3_5'UTR|MBTPS2_uc004dab.2_Missense_Mutation_p.W226L	NM_015884	NP_056968	O43462	MBTP2_HUMAN	Homo sapiens membrane-bound transcription factor peptidase, site 2 (MBTPS2), mRNA.	226			W -> L (in IFAPS; does not affect subcellular localization; impairs activity).		cholesterol metabolic process|proteolysis	Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity			breast(2)|endometrium(3)|large_intestine(3)|lung(13)|ovary(1)|skin(2)	24						CCAGGTATCTGGCATAATTTT	0.428000														304			20		4.16121e-05	0.00068238	0.000375601	1	0
MYH3	4621	broad.mit.edu	37	17	10535807	10535807	+	Missense_Mutation	SNP	G	C	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr17:10535807G>C	uc002gmq.2	-	33	5030	c.4942C>G	c.(4942-4944)Cag>Gag	p.Q1648E		NM_002470	NP_002461	P11055	MYH3_HUMAN	Homo sapiens myosin, heavy chain 3, skeletal muscle, embryonic (MYH3), mRNA.	1648					muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|microfilament motor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						AGCTGTCCCTGGACACTCCTG	0.562000														106			5		0	0	0.000602214	0	0
C9orf139	401563	broad.mit.edu	37	9	139929107	139929107	+	Silent	SNP	C	G	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr9:139929107C>G	uc004ckp.1	+	2	1688	c.174C>G	c.(172-174)ccC>ccG	p.P58P	FUT7_uc004ckq.2_5'Flank	NM_207511	NP_997394	Q6ZV77	CI139_HUMAN	Homo sapiens chromosome 9 open reading frame 139 (C9orf139), mRNA.	58										cervix(1)|lung(2)	3	all_cancers(76;0.0893)	Myeloproliferative disorder(178;0.0821)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.99e-05)|Epithelial(140;0.000493)		AACAGACACCCGGCGGCAGTT	0.662000														102			5		0	0	0.000157383	0	0
LRP1	4035	broad.mit.edu	37	12	57569780	57569780	+	Silent	SNP	C	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr12:57569780C>A	uc001snd.3	+	23	4348	c.3882C>A	c.(3880-3882)ccC>ccA	p.P1294P		NM_002332	NP_002323	Q07954	LRP1_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1 (LRP1), mRNA.	1294					aorta morphogenesis|apoptotic cell clearance|negative regulation of Wnt receptor signaling pathway|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|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)	TCCTGGTGCCCGGCCTGCGCA	0.602000											OREG0021937	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		103			8		0.000157383	0.00233702	0.000157383	1	0
PADI3	51702	broad.mit.edu	37	1	17607179	17607179	+	Nonsense_Mutation	SNP	G	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:17607179G>A	uc001bai.3	+	14	1689	c.1649G>A	c.(1648-1650)tGg>tAg	p.W550*		NM_016233	NP_057317	Q9ULW8	PADI3_HUMAN	Homo sapiens peptidyl arginine deiminase, type III (PADI3), mRNA.	550					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	TGCATCGACTGGAACCGTGAG	0.592000														74			8		0	0	0.000157383	0	0
SIGIRR	59307	broad.mit.edu	37	11	407845	407845	+	Missense_Mutation	SNP	C	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr11:407845C>A	uc001lpg.3	-	3	606	c.453G>T	c.(451-453)caG>caT	p.Q151H	SIGIRR_uc001lpd.2_Missense_Mutation_p.Q151H|SIGIRR_uc001lpf.2_Missense_Mutation_p.Q151H|SIGIRR_uc001lpe.1_Missense_Mutation_p.Q151H			Q6IA17	SIGIR_HUMAN	Homo sapiens single immunoglobulin and toll-interleukin 1 receptor (TIR) domain (SIGIRR), transcript variant 3, mRNA.	151					acute-phase response|innate immune response|negative regulation of chemokine biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of lipopolysaccharide-mediated signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity	integral to membrane	protein binding|transmembrane receptor activity			cervix(2)|endometrium(1)|liver(1)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	13		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CATACGCGTCCTGGTACCAGA	0.687000														81			6		0.000442599	0.00580232	0.000442599	1	0
EPS15	2060	broad.mit.edu	37	1	51822432	51822432	+	Missense_Mutation	SNP	C	G	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:51822432C>G	uc001csq.1	-	24	2723	c.2631G>C	c.(2629-2631)caG>caC	p.Q877H	EPS15_uc009vyz.1_Missense_Mutation_p.Q743H|EPS15_uc001csp.3_Missense_Mutation_p.Q563H	NM_001981	NP_001972	P42566	EPS15_HUMAN	Homo sapiens epidermal growth factor receptor pathway substrate 15 (EPS15), transcript variant 1, mRNA.	877					cell proliferation|clathrin coat assembly|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|protein transport	cytosol|early endosome membrane	SH3 domain binding|calcium ion binding	p.0?(2)		endometrium(3)|kidney(5)|large_intestine(8)|lung(13)|prostate(2)|skin(1)|stomach(1)|urinary_tract(2)	35						CTTCTTGTTCCTGCTGATTTA	0.418000			T	MLL	ALL									95			4		0	0	0.000602214	0	0
MSTN	2660	broad.mit.edu	37	2	190926978	190926978	+	Silent	SNP	C	G	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr2:190926978C>G	uc002urp.3	-	0	478	c.345G>C	c.(343-345)acG>acC	p.T115T		NM_005259	NP_005250	O14793	GDF8_HUMAN	Homo sapiens myostatin (MSTN), mRNA.	115					muscle organ development|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity	p.T115S(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|skin(1)	12			OV - Ovarian serous cystadenocarcinoma(117;0.000742)|Epithelial(96;0.0121)|all cancers(119;0.0395)			TGATTGTTTCCGTTGTAGCGT	0.433000														43			4		0	0	0.000602214	0	0
OR4N2	390429	broad.mit.edu	37	14	20296074	20296074	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr14:20296074C>T	uc010tkv.2	+	0	467	c.467C>T	c.(466-468)tCc>tTc	p.S156F		NM_001004723	NP_001004723	Q8NGD1	OR4N2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily N, member 2 (OR4N2), mRNA.	156					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TTTGTCCACTCCATTATCCAG	0.532000														152			11		0	0	0.00010058	0	0
ZNF630	57232	broad.mit.edu	37	X	47918962	47918963	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chrX:47918962_47918963GG>AA	uc004div.4	-	4	1120_1121	c.868_869CC>TT	c.(868-870)cca>TTa	p.P290L	ZNF630_uc010nhz.1_Intron|ZNF630_uc022bvr.1_Missense_Mutation_p.P276L|ZNF630_uc022bvs.1_Missense_Mutation_p.P290L	NM_001037735	NP_001032824	Q2M218	ZN630_HUMAN	Homo sapiens zinc finger protein 630 (ZNF630), transcript variant 1, mRNA.	290					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(6)|lung(11)|ovary(1)	19						ACATACATATGGTTTCTCTCCA	0.401000														128			17		0	0	6.4e-05	0	0
PDE4C	5143	broad.mit.edu	37	19	18330174	18330174	+	Missense_Mutation	SNP	G	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr19:18330174G>T	uc010xqc.2	-	7	1316	c.836C>A	c.(835-837)aCc>aAc	p.T279N	PDE4C_uc002nik.4_Missense_Mutation_p.T279N|PDE4C_uc002nil.4_Missense_Mutation_p.T279N|PDE4C_uc002nig.4_Missense_Mutation_p.T49N|PDE4C_uc002nih.4_Missense_Mutation_p.T49N|PDE4C_uc010ebk.3_Missense_Mutation_p.T173N|PDE4C_uc002nii.4_Missense_Mutation_p.T247N|PDE4C_uc002nif.4_Missense_Mutation_p.T48N|PDE4C_uc010ebl.3_5'UTR	NM_001098819	NP_001092289	Q08493	PDE4C_HUMAN	Homo sapiens phosphodiesterase 4C, cAMP-specific (PDE4C), transcript variant 2, mRNA.	279					signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33					Dyphylline(DB00651)	CTCCTCAGCGGTCACCTTGGG	0.652000														54			4		3.59834e-05	0.000594959	3.59834e-05	1	0
FKBP6	8468	broad.mit.edu	37	7	72745679	72745679	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr7:72745679C>T	uc003tya.2	+	4	620	c.488C>T	c.(487-489)cCa>cTa	p.P163L	FKBP6_uc003twz.2_Missense_Mutation_p.P133L|FKBP6_uc011kew.1_Missense_Mutation_p.P158L|FKBP6_uc010lbe.1_Non-coding_Transcript	NM_003602	NP_003593	O75344	FKBP6_HUMAN	Homo sapiens FK506 binding protein 6, 36kDa (FKBP6), transcript variant 1, mRNA.	163					protein folding	membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)	16		Lung NSC(55;0.0908)|all_lung(88;0.198)				GACCAATTTCCACTTCAGAAG	0.468000														108			25		0	0	0.00047179	0	0
UNC5C	8633	broad.mit.edu	37	4	96137343	96137343	+	Silent	SNP	G	C	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr4:96137343G>C	uc003hto.3	-	9	2018	c.1665C>G	c.(1663-1665)ccC>ccG	p.P555P	UNC5C_uc010ilc.2_Silent_p.P574P|UNC5C_uc003htq.3_Silent_p.P574P	NM_003728	NP_003719	O95185	UNC5C_HUMAN	Homo sapiens unc-5 homolog C (C. elegans) (UNC5C), mRNA.	555	ZU5.				apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		TGGCCCCAGCGGGAATCAGCA	0.443000														27			4		0	0	3.59834e-05	0	0
ME1	4199	broad.mit.edu	37	6	84025035	84025035	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr6:84025035G>A	uc003pjy.3	-	5	963	c.698C>T	c.(697-699)tCt>tTt	p.S233F	ME1_uc011dzb.2_Missense_Mutation_p.S158F|ME1_uc011dzc.2_Missense_Mutation_p.S67F	NM_002395	NP_002386	P48163	MAOX_HUMAN	Homo sapiens malic enzyme 1, NADP(+)-dependent, cytosolic (ME1), mRNA.	233					NADP biosynthetic process|carbohydrate metabolic process|cellular lipid metabolic process|malate metabolic process|response to carbohydrate stimulus|response to hormone stimulus	cytosol	ADP binding|NAD binding|NADP binding|electron carrier activity|malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|manganese ion binding			NS(2)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_cancers(76;1.28e-06)|Acute lymphoblastic leukemia(125;5.03e-07)|all_hematologic(105;0.000238)|all_epithelial(107;0.00218)		BRCA - Breast invasive adenocarcinoma(397;0.0641)	NADH(DB00157)	ATACTTGGAAGAAACTGCCTC	0.308000														72			16		0	0	0.000308642	0	0
CCDC171	203238	broad.mit.edu	37	9	15723727	15723727	+	Missense_Mutation	SNP	C	G	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr9:15723727C>G	uc011lmu.2	+	11	1609	c.1498C>G	c.(1498-1500)Cac>Gac	p.H500D	CCDC171_uc010mih.1_Missense_Mutation_p.H500D|CCDC171_uc003zmd.3_Missense_Mutation_p.H492D|CCDC171_uc003zme.3_Missense_Mutation_p.H407D	NM_173550	NP_775821	Q6TFL3	CI093_HUMAN	Homo sapiens chromosome 9 open reading frame 93 (C9orf93), mRNA.	492																	GATAGACTCTCACACTAAAAA	0.264000														91			5		0	0	3.59834e-05	0	0
WASH3P	374666	broad.mit.edu	37	15	102515299	102515299	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr15:102515299G>A	uc002cdi.3	+	8	1943	c.523G>A	c.(523-525)Ggc>Agc	p.G175S	WASH3P_uc010bpo.3_Non-coding_Transcript|WASH3P_uc002cdq.3_Non-coding_Transcript|WASH3P_uc002cdr.3_Non-coding_Transcript					Homo sapiens WAS protein family homolog 3 pseudogene (WASH3P), non-coding RNA.									p.G374S(10)		central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25						TGGGGGCATCGGCAAGGCCAA	0.652000														23			4		0	0	0.00024832	0	0
LILRB3	11025	broad.mit.edu	37	19	54803598	54803598	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr19:54803598C>T	uc002qfd.3	-	2	318	c.226G>A	c.(226-228)Gag>Aag	p.E76K	LILRB3_uc002qew.2_Intron|LILRB3_uc010erk.3_Missense_Mutation_p.E76K	NM_006865	NP_006856	O75022	LIRB3_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3 (LILRA3), transcript variant 1, mRNA.	76	Ig-like C2-type 1.				cell surface receptor linked signaling pathway|defense response	integral to plasma membrane	transmembrane receptor activity			endometrium(3)|kidney(13)|large_intestine(1)|lung(6)|ovary(2)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	34	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TTCACAAGCTCCTGTGGGATC	0.537000														61			6		0	0	8.12818e-05	0	0
MAEL	84944	broad.mit.edu	37	1	166987192	166987192	+	Missense_Mutation	SNP	A	G	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:166987192A>G	uc001gdy.1	+	9	1108	c.1037A>G	c.(1036-1038)tAc>tGc	p.Y346C	MAEL_uc021peh.1_Missense_Mutation_p.Y290C|MAEL_uc001gdz.1_Missense_Mutation_p.Y315C|MAEL_uc009wvf.1_Non-coding_Transcript	NM_032858	NP_116247	Q96JY0	MAEL_HUMAN	Homo sapiens maelstrom homolog (Drosophila) (MAEL), mRNA.	346					DNA methylation involved in gamete generation|cell differentiation|gene silencing by RNA|multicellular organismal development|piRNA metabolic process|spermatogenesis	piP-body	DNA binding	p.R345C(2)		breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(12)|skin(4)	28						GCAGGGCGTTACCAGGTAAGG	0.443000														56			3		0	0	0.00024832	0	0
OSBPL8	114882	broad.mit.edu	37	12	76791602	76791602	+	Missense_Mutation	SNP	G	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr12:76791602G>T	uc001sye.1	-	7	1024	c.544C>A	c.(544-546)Caa>Aaa	p.Q182K	OSBPL8_uc001syf.1_Missense_Mutation_p.Q140K|OSBPL8_uc001syg.1_Missense_Mutation_p.Q140K|OSBPL8_uc001syh.1_Missense_Mutation_p.Q157K	NM_020841	NP_001003712	Q9BZF1	OSBL8_HUMAN	Homo sapiens oxysterol binding protein-like 8 (OSBPL8), transcript variant 1, mRNA.	182	PH.				lipid transport		lipid binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(2)	28						CCATTTTTTTGGGTTTTATAG	0.378000														55			6		3.59834e-05	0.000594959	3.59834e-05	1	0
BCL6	604	broad.mit.edu	37	3	187447753	187447753	+	Missense_Mutation	SNP	C	G	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr3:187447753C>G	uc003frp.3	-	4	897	c.440G>C	c.(439-441)cGg>cCg	p.R147P	LOC100131635_uc021xio.1_Intron|BCL6_uc011bsf.1_Missense_Mutation_p.R147P|BCL6_uc010hza.2_Missense_Mutation_p.R45P|BCL6_uc003frq.2_Missense_Mutation_p.R147P	NM_001130845	NP_001697	P41182	BCL6_HUMAN	Homo sapiens B-cell CLL/lymphoma 6 (BCL6), transcript variant 2, mRNA.	147					negative regulation of B cell apoptosis|negative regulation of S phase of mitotic cell cycle|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|protein import into nucleus, translocation|regulation of germinal center formation|response to DNA damage stimulus	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(9)|lung(10)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	40	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)		CATCAGCATCCGGCTGTTGAG	0.542000			"""T, Mis"""	"""IG loci, ZNFN1A1, LCP1, PIM1, TFRC, CIITA, NACA, HSPCB, HSPCA, HIST1H4I, IL21R,  POU2AF1, ARHH, EIF4A2, SFRS3"""	"""NHL, CLL"""									85			4		0	0	8.12818e-05	0	0
C12orf50	160419	broad.mit.edu	37	12	88391938	88391938	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr12:88391938C>T	uc001tam.1	-	3	331	c.163G>A	c.(163-165)Gga>Aga	p.G55R	C12orf50_uc001tan.3_Missense_Mutation_p.G109R	NM_152589	NP_689802	Q8NA57	CL050_HUMAN	Homo sapiens chromosome 12 open reading frame 50 (C12orf50), mRNA.	55										NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|urinary_tract(2)	34						AGTGGAATTCCTTCCTGAATT	0.363000														41			4		0	0	0.00024832	0	0
ANKRD42	338699	broad.mit.edu	37	11	82938834	82938834	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr11:82938834G>A	uc010rsv.1	+	6	1255	c.833G>A	c.(832-834)gGg>gAg	p.G278E	ANKRD42_uc001ozz.1_Missense_Mutation_p.G250E|ANKRD42_uc001paa.3_Missense_Mutation_p.G278E|ANKRD42_uc001pab.1_Missense_Mutation_p.G277E			Q8N9B4	ANR42_HUMAN	Homo sapiens ankyrin repeat domain 42 (ANKRD42), mRNA.	250								p.A277S(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18						GGTGATTTGGGGATGCTTAAG	0.353000														135			7		0	0	6.40141e-05	0	0
SYNGAP1	8831	broad.mit.edu	37	6	33408641	33408641	+	Silent	SNP	G	T	T	rs149727287		TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr6:33408641G>T	uc011dri.2	+	10	2007	c.1812G>T	c.(1810-1812)tcG>tcT	p.S604S	SYNGAP1_uc010juy.3_Silent_p.S589S|SYNGAP1_uc010juz.3_Silent_p.S316S	NM_006772	NP_006763	Q96PV0	SYGP1_HUMAN	Homo sapiens synaptic Ras GTPase activating protein 1 (SYNGAP1), mRNA.	604	Ras-GAP.				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|SH3 domain binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						CGATTATGTCGCCCAGTCTCT	0.597000														46			4		3.59834e-05	0.000594959	3.59834e-05	1	0
B4GALNT4	338707	broad.mit.edu	37	11	373814	373814	+	Missense_Mutation	SNP	C	G	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr11:373814C>G	uc001lpb.3	+	7	778	c.769C>G	c.(769-771)Cac>Gac	p.H257D		NM_178537	NP_848632	Q76KP1	B4GN4_HUMAN	Homo sapiens beta-1,4-N-acetyl-galactosaminyl transferase 4 (B4GALNT4), mRNA.	257						Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CGGCTCGGACCACGTGGAAGT	0.652000														48			4		0	0	0.00024832	0	0
SPTBN5	51332	broad.mit.edu	37	15	42167107	42167107	+	Missense_Mutation	SNP	C	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr15:42167107C>A	uc001zos.3	-	22	4663	c.4330G>T	c.(4330-4332)Gcc>Tcc	p.A1444S		NM_016642	NP_057726	Q9NRC6	SPTN5_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 5 (SPTBN5), mRNA.	1479					actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		GCCATGGAGGCGAGGGCAGCC	0.662000														33			4		3.59834e-05	0.000594959	3.59834e-05	1	0
TRIM55	84675	broad.mit.edu	37	8	67086803	67086803	+	Missense_Mutation	SNP	C	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr8:67086803C>A	uc003xvv.3	+	9	1848	c.1622C>A	c.(1621-1623)tCc>tAc	p.S541Y	TRIM55_uc003xvu.3_3'UTR|TRIM55_uc003xvw.3_Missense_Mutation_p.S445Y|TRIM55_uc003xvx.3_Missense_Mutation_p.S234Y	NM_184085	NP_908973	Q9BYV6	TRI55_HUMAN	Homo sapiens tripartite motif containing 55 (TRIM55), transcript variant 1, mRNA.	541						cytoplasm|microtubule|nucleus	signal transducer activity|zinc ion binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	39		Lung NSC(129;0.138)|all_lung(136;0.221)	Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)			TTCTCCTTTTCCTGGTTGAAC	0.532000														100			10		7.03913e-09	1.36565e-07	0.00010058	1	0
CEP152	22995	broad.mit.edu	37	15	49048114	49048114	+	Missense_Mutation	SNP	G	C	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr15:49048114G>C	uc001zwz.3	-	19	3524	c.3331C>G	c.(3331-3333)Cca>Gca	p.P1111A	CEP152_uc001zwy.3_Missense_Mutation_p.P1111A|CEP152_uc001zxa.2_Missense_Mutation_p.P1018A	NM_001194998	NP_001181927	O94986	CE152_HUMAN	Homo sapiens centrosomal protein 152kDa (CEP152), transcript variant 1, mRNA.	1111					G2/M transition of mitotic cell cycle|centrosome duplication	centrosome|cytosol	protein kinase binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		TTCCATTCTGGGTCAGCGTTT	0.348000														114			5		0	0	0.000274275	0	0
USPL1	10208	broad.mit.edu	37	13	31233132	31233132	+	Missense_Mutation	SNP	C	G	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr13:31233132C>G	uc001utc.2	+	8	3350	c.2918C>G	c.(2917-2919)gCg>gGg	p.A973G	USPL1_uc001utd.2_Missense_Mutation_p.A644G|USPL1_uc001ute.1_Missense_Mutation_p.A644G	NM_005800	NP_005791	Q5W0Q7	USPL1_HUMAN	Homo sapiens ubiquitin specific peptidase like 1 (USPL1), mRNA.	973					ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(15)|pancreas(3)|skin(3)	34		Lung SC(185;0.0257)|Breast(139;0.203)		all cancers(112;0.0306)|Epithelial(112;0.131)|OV - Ovarian serous cystadenocarcinoma(117;0.134)		GAAATTTTAGCGGAATTATTG	0.428000														166			25		0	0	0.000586117	0	0
CKS1B	1163	broad.mit.edu	37	1	154950478	154950478	+	Silent	SNP	C	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:154950478C>A	uc001fgb.3	+	1	179	c.75C>A	c.(73-75)ccC>ccA	p.P25P	CKS1B_uc001fga.3_Non-coding_Transcript	NM_001826	NP_001817	P61024	CKS1_HUMAN	Homo sapiens CDC28 protein kinase regulatory subunit 1B (CKS1B), transcript variant 1, mRNA.	25					G1/S transition of mitotic cell cycle|S phase of mitotic cell cycle|cell division|cell proliferation|regulation of cyclin-dependent protein kinase activity	nucleoplasm	cyclin-dependent protein kinase regulator activity|protein binding			breast(1)|large_intestine(1)|lung(1)	3	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			TCATGCTGCCCAAGGACATAG	0.453000														79			7		3.09899e-07	5.82643e-06	0.000274275	1	0
IFNAR1	3454	broad.mit.edu	37	21	34727797	34727797	+	Missense_Mutation	SNP	C	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr21:34727797C>A	uc002yrn.3	+	10	1763	c.1616C>A	c.(1615-1617)tCt>tAt	p.S539Y	IFNAR1_uc011adv.2_Missense_Mutation_p.S470Y	NM_000629	NP_000620	P17181	INAR1_HUMAN	Homo sapiens interferon (alpha, beta and omega) receptor 1 (IFNAR1), mRNA.	539					JAK-STAT cascade|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	integral to plasma membrane	type I interferon receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|skin(2)	14					Interferon Alfa-2a, Recombinant(DB00034)|Interferon Alfa-2b, Recombinant(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1b(DB00068)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)	GGAAATTATTCTAATGAAGAT	0.338000														226			13		8.00594e-06	0.000140159	9.7654e-05	1	0
IQCG	84223	broad.mit.edu	37	3	197665577	197665577	+	Silent	SNP	G	C	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr3:197665577G>C	uc003fyo.3	-	3	503	c.357C>G	c.(355-357)ccC>ccG	p.P119P	IQCG_uc003fyn.3_Silent_p.P21P|IQCG_uc003fyp.3_Silent_p.P119P|IQCG_uc003fyq.4_Silent_p.P119P	NM_001134435	NP_115639	Q9H095	IQCG_HUMAN	Homo sapiens IQ motif containing G (IQCG), transcript variant 2, mRNA.	119										autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;7.19e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.149)		TTAACGGACTGGGTATTTTTG	0.383000														299			8		0	0	0.000274275	0	0
MUC16	94025	broad.mit.edu	37	19	9063558	9063558	+	Missense_Mutation	SNP	G	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr19:9063558G>T	uc002mkp.3	-	2	24092	c.23888C>A	c.(23887-23889)cCc>cAc	p.P7963H		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	7965	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.P7963P(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TTCCAGAAGGGGAGGGCTCAT	0.458000														64			13		6.71089e-19	1.33341e-17	0.00010058	1	0
FADS2	9415	broad.mit.edu	37	11	61630830	61630830	+	Missense_Mutation	SNP	C	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr11:61630830C>A	uc001nsl.1	+	8	1207	c.1057C>A	c.(1057-1059)Cgt>Agt	p.R353S	FADS2_uc001nsj.2_Missense_Mutation_p.R331S|FADS2_uc010rlo.1_Missense_Mutation_p.R322S|FADS2_uc001nsk.3_Missense_Mutation_p.R353S	NM_004265	NP_004256	O95864	FADS2_HUMAN	Homo sapiens fatty acid desaturase 2 (FADS2), mRNA.	353					electron transport chain|transport|unsaturated fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction	heme binding	p.R353R(1)		breast(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	20					Alpha-Linolenic Acid(DB00132)	GGAGGCCTACCGTGACTGGTT	0.567000														58			6		0.000274275	0.00385584	0.000274275	1	0
DNAH17	8632	broad.mit.edu	37	17	76571089	76571089	+	Silent	SNP	G	C	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr17:76571089G>C	uc010dhp.2	-	1	176	c.51C>G	c.(49-51)tcC>tcG	p.S17S		NM_173628	NP_775899			Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA.											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			TCAGGACGATGGAGGCAACTT	0.522000														37			3		0	0	3.59834e-05	0	0
ZNF429	353088	broad.mit.edu	37	19	21719141	21719141	+	Nonsense_Mutation	SNP	C	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr19:21719141C>T	uc002nqd.1	+	3	423	c.286C>T	c.(286-288)Caa>Taa	p.Q96*	ZNF429_uc010ecu.2_Intron	NM_001001415	NP_001001415	Q86V71	ZN429_HUMAN	Homo sapiens zinc finger protein 429 (ZNF429), mRNA.	96					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(13)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	34						AGATTCTTTCCAAAAAGTGAC	0.328000														127			21		0	0	0.000295444	0	0
GPAM	57678	broad.mit.edu	37	10	113913352	113913352	+	Missense_Mutation	SNP	G	C	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr10:113913352G>C	uc009xxy.2	-	21	2653	c.2443C>G	c.(2443-2445)Cga>Gga	p.R815G	GPAM_uc001kzp.3_Missense_Mutation_p.R815G	NM_020918	NP_065969	Q9HCL2	GPAT1_HUMAN	Homo sapiens glycerol-3-phosphate acyltransferase, mitochondrial (GPAM), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	815					phospholipid biosynthetic process|triglyceride biosynthetic process	integral to membrane|mitochondrial outer membrane	glycerol-3-phosphate O-acyltransferase activity			breast(2)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31				Epithelial(162;0.0306)|all cancers(201;0.123)		AGTTTTTGTCGGTTGCATTGA	0.383000														121			6		0	0	8.12818e-05	0	0
PPP1R16A	84988	broad.mit.edu	37	8	145724424	145724424	+	Silent	SNP	G	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr8:145724424G>A	uc003zdd.3	+	3	1369	c.456G>A	c.(454-456)ctG>ctA	p.L152L	AK094577_uc003zde.1_5'Flank|PPP1R16A_uc003zdf.3_Silent_p.L152L	NM_032902	NP_116291	Q96I34	PP16A_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 16A (PPP1R16A), mRNA.	152						plasma membrane	protein binding			NS(1)|endometrium(1)|kidney(2)|lung(3)|prostate(1)	8	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)			ACCTGCACCTGGTGGAGCTGC	0.642000														48			4		0	0	0.00024832	0	0
CNGB3	54714	broad.mit.edu	37	8	87666242	87666242	+	Nonsense_Mutation	SNP	G	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr8:87666242G>A	uc003ydx.3	-	6	949	c.901C>T	c.(901-903)Cag>Tag	p.Q301*	CNGB3_uc010maj.3_Nonsense_Mutation_p.Q163*	NM_019098	NP_061971	Q9NQW8	CNGB3_HUMAN	Homo sapiens cyclic nucleotide gated channel beta 3 (CNGB3), mRNA.	301					signal transduction|visual perception	integral to membrane	cGMP binding			NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						TCACCTACCTGAAATTTTGTA	0.299000														78			14		0	0	0.000308642	0	0
RFX4	5992	broad.mit.edu	37	12	107114555	107114555	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr12:107114555G>A	uc001tlt.3	+	12	1419	c.1279G>A	c.(1279-1281)Ggg>Agg	p.G427R	LOC100287944_uc021rdg.1_Intron|RFX4_uc001tlr.3_Missense_Mutation_p.G418R|RFX4_uc001tls.3_Missense_Mutation_p.G427R|RFX4_uc001tlv.3_Missense_Mutation_p.G324R	NM_001206691	NP_001193620	Q33E94	RFX4_HUMAN	Homo sapiens regulatory factor X, 4 (influences HLA class II expression) (RFX4), transcript variant 4, mRNA.	418	Necessary for dimerization.				transcription, DNA-dependent	nucleus	DNA binding			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(20)|pancreas(1)|upper_aerodigestive_tract(1)	35						CAAGAGACAAGGGTCCTTGAA	0.498000														61			14		0	0	0.000219431	0	0
KIF4B	285643	broad.mit.edu	37	5	154394324	154394324	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr5:154394324G>A	uc010jih.1	+	0	1065	c.905G>A	c.(904-906)gGa>gAa	p.G302E		NM_001099293	NP_001092763	Q2VIQ3	KIF4B_HUMAN	Homo sapiens kinesin family member 4B (KIF4B), mRNA.	302	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)			GATTCTCTAGGAGGTAACAGC	0.448000														160			59		0	0	0.000781405	0	0
OR5P3	120066	broad.mit.edu	37	11	7847334	7847334	+	Silent	SNP	G	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr11:7847334G>A	uc010rbg.2	-	0	186	c.186C>T	c.(184-186)ttC>ttT	p.F62F		NM_153445	NP_703146	Q8WZ94	OR5P3_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily P, member 3 (OR5P3), mRNA.	62					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)	15				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		AATGGCAGAGGAAAATGTACA	0.408000														90			11		0	0	6.40141e-05	0	0
MMP3	4314	broad.mit.edu	37	11	102710972	102710972	+	Missense_Mutation	SNP	C	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr11:102710972C>A	uc001phj.1	-	5	867	c.802G>T	c.(802-804)Gac>Tac	p.D268Y		NM_002422	NP_002413	P08254	MMP3_HUMAN	Homo sapiens matrix metallopeptidase 3 (stromelysin 1, progelatinase) (MMP3), mRNA.	268					collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0142)	Marimastat(DB00786)|Simvastatin(DB00641)	TCAGGGGAGTCAGGGGGAGGT	0.507000														36			5		8.12818e-05	0.00127893	8.12818e-05	1	0
CLRN1	7401	broad.mit.edu	37	3	150645853	150645853	+	Missense_Mutation	SNP	C	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr3:150645853C>A	uc021xfs.1	-	3	899	c.608G>T	c.(607-609)tGg>tTg	p.W203L	CLRN1-AS1_uc011bny.1_Intron|CLRN1_uc021xfq.1_Intron|CLRN1_uc021xfr.1_Intron|CLRN1_uc003eyj.3_Splice_Site_p.W114_splice|CLRN1_uc003eyk.1_Missense_Mutation_p.W190L	NM_001195794	NP_001182723	P58418	CLRN1_HUMAN	Homo sapiens clarin 1 (CLRN1), transcript variant 5, mRNA.	190					equilibrioception|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	integral to membrane				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)	14			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			GAAAATGACCCAGAATGAGGT	0.353000														139			8		1.58986e-06	2.88444e-05	0.000673444	1	0
BAZ2A	11176	broad.mit.edu	37	12	56993617	56993617	+	Missense_Mutation	SNP	G	C	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr12:56993617G>C	uc001slq.1	-	25	5241	c.5047C>G	c.(5047-5049)Cgg>Ggg	p.R1683G	BAZ2A_uc001slp.1_Missense_Mutation_p.R1681G|BAZ2A_uc001slo.1_Missense_Mutation_p.R489G|BAZ2A_uc009zov.1_Missense_Mutation_p.R649G|BAZ2A_uc009zow.1_Missense_Mutation_p.R1651G	NM_013449	NP_038477	Q9UIF9	BAZ2A_HUMAN	Homo sapiens bromodomain adjacent to zinc finger domain, 2A (BAZ2A), mRNA.	1683					DNA methylation|chromatin silencing at rDNA|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	DNA binding|RNA binding|histone acetyl-lysine binding|ligand-dependent nuclear receptor binding|zinc ion binding			breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1)	31						TCACCCTTCCGGCAGACTAGA	0.582000														59			4		0	0	0.000602214	0	0
SLC12A1	6557	broad.mit.edu	37	15	48524941	48524941	+	Silent	SNP	G	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr15:48524941G>T	uc001zwn.4	+	7	1209	c.993G>T	c.(991-993)ctG>ctT	p.L331L	SLC12A1_uc010uew.1_Silent_p.L137L|SLC12A1_uc010bem.3_Silent_p.L331L|SLC12A1_uc010uex.2_Silent_p.L331L|SLC12A1_uc001zwq.4_Silent_p.L102L|SLC12A1_uc001zwr.4_Silent_p.L58L	NM_000338	NP_000329	Q13621	S12A1_HUMAN	Homo sapiens solute carrier family 12 (sodium/potassium/chloride transporters), member 1 (SLC12A1), transcript variant 1, mRNA.	331					potassium ion transport|sodium ion transport	integral to membrane|membrane fraction	sodium:potassium:chloride symporter activity			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1)	59		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021)	TCATTCTTCTGGTCATTCTTC	0.338000														151			10		0.000151284	0.00233702	0.000151284	1	0
POLR3B	55703	broad.mit.edu	37	12	106763072	106763072	+	Missense_Mutation	SNP	G	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr12:106763072G>T	uc001tlp.3	+	4	469	c.247G>T	c.(247-249)Ggg>Tgg	p.G83W	POLR3B_uc001tlq.3_Missense_Mutation_p.G25W	NM_018082	NP_001154180	Q9NW08	RPC2_HUMAN	Homo sapiens polymerase (RNA) III (DNA directed) polypeptide B (POLR3B), transcript variant 1, mRNA.	83					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding	p.G83W(2)|p.V82F(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						TATCTATGTTGGGCTTCCTGA	0.343000														251			14		1.15088e-07	2.19624e-06	0.000422831	1	0
SLC13A2	9058	broad.mit.edu	37	17	26821471	26821471	+	Missense_Mutation	SNP	A	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr17:26821471A>T	uc010wan.2	+	8	1463	c.1396A>T	c.(1396-1398)Atg>Ttg	p.M466L	SLC13A2_uc010wam.2_Missense_Mutation_p.M373L|SLC13A2_uc002hbh.3_Missense_Mutation_p.M417L|SLC13A2_uc010wao.2_Missense_Mutation_p.M374L|SLC13A2_uc002hbi.3_Missense_Mutation_p.M346L	NM_001145975	NP_001139447	Q13183	S13A2_HUMAN	Homo sapiens solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2 (SLC13A2), transcript variant 1, mRNA.	417						integral to plasma membrane|membrane fraction	low affinity sodium:dicarboxylate symporter activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_lung(13;0.000871)|Lung NSC(42;0.0027)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	Succinic acid(DB00139)	GAACCAGAAGATGCCGTGGAA	0.587000											OREG0024276	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		92			12		0	0	6.40141e-05	0	0
TTC19	54902	broad.mit.edu	37	17	15906112	15906112	+	Silent	SNP	C	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr17:15906112C>A	uc002gph.2	+	3	898	c.792C>A	c.(790-792)gcC>gcA	p.A264A	TTC19_uc021tqp.1_Non-coding_Transcript	NM_017775	NP_060245	Q6DKK2	TTC19_HUMAN	Homo sapiens tetratricopeptide repeat domain 19 (TTC19), transcript variant 1, mRNA.	143					cell cycle|cytokinesis|mitochondrial respiratory chain complex III assembly	centrosome|midbody|mitochondrial inner membrane	protein binding			central_nervous_system(1)|lung(2)|skin(1)|stomach(1)	5				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		TTCAGATGGCCAACTTAGCAT	0.313000														229			10		1.99824e-07	3.79773e-06	0.000566183	1	0
UNC93B1	81622	broad.mit.edu	37	11	67765893	67765893	+	Missense_Mutation	SNP	C	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr11:67765893C>A	uc001omw.1	-	5	797	c.717G>T	c.(715-717)atG>atT	p.M239I		NM_030930	NP_112192	Q9H1C4	UN93B_HUMAN	Homo sapiens unc-93 homolog B1 (C. elegans) (UNC93B1), mRNA.	239					innate immune response|intracellular protein transport|response to virus|toll-like receptor 3 signaling pathway|toll-like receptor 7 signaling pathway|toll-like receptor 9 signaling pathway	early phagosome|endoplasmic reticulum membrane|endosome|integral to membrane|lysosome											GGAAATAAATCATGGGCAGCT	0.567000														170			9		6.40141e-05	0.00103518	6.40141e-05	1	0
SAMHD1	25939	broad.mit.edu	37	20	35559248	35559248	+	Silent	SNP	G	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr20:35559248G>A	uc002xgh.2	-	4	740	c.540C>T	c.(538-540)caC>caT	p.H180H		NM_015474	NP_056289	Q9Y3Z3	SAMH1_HUMAN	Homo sapiens SAM domain and HD domain 1 (SAMHD1), mRNA.	180	HD.				defense response to virus|innate immune response|regulation of innate immune response	nucleus	metal ion binding|phosphoric diester hydrolase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	20		Myeloproliferative disorder(115;0.00878)				CACCCAGTGCGTGAACTAGAC	0.448000														104			7		0	0	8.12818e-05	0	0
AMBRA1	55626	broad.mit.edu	37	11	46563784	46563784	+	Missense_Mutation	SNP	C	G	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr11:46563784C>G	uc001ncv.2	-	7	1827	c.1513G>C	c.(1513-1515)Gag>Cag	p.E505Q	AMBRA1_uc010rgt.1_Missense_Mutation_p.E161Q|AMBRA1_uc009ylc.1_Missense_Mutation_p.E595Q|AMBRA1_uc001ncu.1_Missense_Mutation_p.E505Q|AMBRA1_uc010rgu.1_Missense_Mutation_p.E595Q|AMBRA1_uc001ncw.2_Missense_Mutation_p.E505Q|AMBRA1_uc001ncx.2_Missense_Mutation_p.E595Q	NM_017749	NP_060219	Q9C0C7	AMRA1_HUMAN	Homo sapiens autophagy/beclin-1 regulator 1 (AMBRA1), mRNA.	523					autophagy|cell differentiation|nervous system development	autophagic vacuole|cytoplasmic vesicle				NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		GAACTAGCCTCGCCAGAGGAG	0.587000														48			4		0	0	0.00024832	0	0
HPS4	89781	broad.mit.edu	37	22	26849216	26849216	+	Missense_Mutation	SNP	C	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr22:26849216C>A	uc003acl.3	-	13	2769	c.2110G>T	c.(2110-2112)Ggg>Tgg	p.G704W	HPS4_uc003aci.3_Missense_Mutation_p.G699W|HPS4_uc003acj.3_Missense_Mutation_p.G568W|HPS4_uc003ack.3_Missense_Mutation_p.G495W|HPS4_uc003acn.3_Missense_Mutation_p.G550W|HPS4_uc003ach.3_Missense_Mutation_p.G439W	NM_022081	NP_071364	Q9NQG7	HPS4_HUMAN	Homo sapiens Hermansky-Pudlak syndrome 4 (HPS4), transcript variant 1, mRNA.	704					lysosome organization|positive regulation of eye pigmentation|protein stabilization|protein targeting	lysosome|melanosome|membrane fraction|platelet dense granule	protein homodimerization activity			breast(2)|endometrium(3)|kidney(5)|large_intestine(4)|lung(12)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	32						AAGTTCACCCCGTGCTTCAGC	0.552000									Hermansky-Pudlak syndrome					171			7		0.000673444	0.00850193	0.000673444	1	0
PRDM5	11107	broad.mit.edu	37	4	121737626	121737626	+	Missense_Mutation	SNP	G	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr4:121737626G>T	uc003idn.3	-	6	1097	c.847C>A	c.(847-849)Cag>Aag	p.Q283K	PRDM5_uc003ido.3_Missense_Mutation_p.Q252K|PRDM5_uc010ine.3_Missense_Mutation_p.Q252K|PRDM5_uc010inf.3_Missense_Mutation_p.Q252K	NM_018699	NP_061169	Q9NQX1	PRDM5_HUMAN	Homo sapiens PR domain containing 5 (PRDM5), mRNA.	283					histone H3-K9 methylation|histone deacetylation|mitotic cell cycle|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	repressing transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(17)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						ACATTTTCCTGGTGTCTTTTC	0.547000														57			5		0.000442599	0.00580232	0.000442599	1	0
DCLRE1A	9937	broad.mit.edu	37	10	115603995	115603995	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr10:115603995C>T	uc001law.2	-	4	3305	c.2387G>A	c.(2386-2388)gGt>gAt	p.G796D		NM_014881	NP_055696	Q6PJP8	DCR1A_HUMAN	Homo sapiens DNA cross-link repair 1A (DCLRE1A), mRNA.	796					cell division|mitosis	nucleus	hydrolase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(2)|urinary_tract(1)	31				Epithelial(162;0.0157)|all cancers(201;0.0171)		CATGACAGCACCTGGACAGCT	0.423000								Other identified genes with known or suspected DNA repair function						49			15		0	0	0.000422831	0	0
SPEF2	79925	broad.mit.edu	37	5	35740308	35740308	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr5:35740308C>T	uc003jjo.3	+	22	3380	c.3269C>T	c.(3268-3270)tCc>tTc	p.S1090F	SPEF2_uc003jjp.1_Missense_Mutation_p.S576F	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	Homo sapiens sperm flagellar 2 (SPEF2), transcript variant 1, mRNA.	1090					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GATTTCAACTCCCTTCCTGAT	0.438000														96			11		0	0	6.40141e-05	0	0
TMEM200B	399474	broad.mit.edu	37	1	29448325	29448325	+	Missense_Mutation	SNP	G	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:29448325G>T	uc021oki.1	-	0	16	c.16C>A	c.(16-18)Ccc>Acc	p.P6T	TMEM200B_uc021okh.1_Missense_Mutation_p.P6T|TMEM200B_uc001brn.2_Missense_Mutation_p.P6T	NM_001171868	NP_001165339	Q69YZ2	T200B_HUMAN	Homo sapiens transmembrane protein 200B (TMEM200B), transcript variant 1, mRNA.	6						integral to membrane				ovary(1)	1		Colorectal(325;3.46e-05)|Breast(348;0.00765)|Lung NSC(340;0.0153)|all_lung(284;0.0173)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;7.32e-08)|COAD - Colon adenocarcinoma(152;4.92e-06)|STAD - Stomach adenocarcinoma(196;0.00618)|BRCA - Breast invasive adenocarcinoma(304;0.0501)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.126)		CATTCTTCGGGGCTCCCGGCC	0.751000														11			4		6.5536e-12	1.2948e-10	0.000157383	1	0
TBC1D5	9779	broad.mit.edu	37	3	17447927	17447927	+	Missense_Mutation	SNP	G	C	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr3:17447927G>C	uc010hev.3	-	5	523	c.259C>G	c.(259-261)Cgc>Ggc	p.R87G	TBC1D5_uc003cbf.3_Missense_Mutation_p.R87G|TBC1D5_uc003cbe.3_Missense_Mutation_p.R87G|TBC1D5_uc010hew.1_Missense_Mutation_p.R39G	NM_001134381	NP_001127853	Q92609	TBCD5_HUMAN	Homo sapiens TBC1 domain family, member 5 (TBC1D5), transcript variant 1, mRNA.	87	Rab-GAP TBC.					intracellular	Rab GTPase activator activity|protein binding			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	36						CAAATGCTGCGGAACCTGCTG	0.398000														43			4		0	0	0.000157383	0	0
ABCA5	23461	broad.mit.edu	37	17	67266772	67266773	+	Missense_Mutation	DNP	CC	AA	AA	rs141491858		TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr17:67266772_67266773CC>AA	uc002jif.2	-	20	4229_4230	c.3011_3012GG>TT	c.(3010-3012)tgg>tTT	p.W1004F	ABCA5_uc002jib.2_5'Flank|ABCA5_uc002jic.2_Missense_Mutation_p.W227F|ABCA5_uc002jid.2_5'UTR|ABCA5_uc002jie.2_Non-coding_Transcript|ABCA5_uc002jig.2_Missense_Mutation_p.W1004F	NM_018672	NP_758424	Q8WWZ7	ABCA5_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 5 (ABCA5), transcript variant 1, mRNA.	1004					cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)					ATGGGGTACTCCAGATCTGGAT	0.277000														301			11		0	0	6.4e-05	0	0
CADPS	8618	broad.mit.edu	37	3	62463952	62463952	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr3:62463952C>T	uc003dll.2	-	22	3673	c.3313G>A	c.(3313-3315)Gaa>Aaa	p.E1105K	CADPS_uc003dlj.1_Missense_Mutation_p.E55K|CADPS_uc003dlk.1_Missense_Mutation_p.E553K|CADPS_uc003dlm.2_Missense_Mutation_p.E1066K|CADPS_uc003dln.2_Missense_Mutation_p.E1026K|CADPS_uc021wzv.1_Missense_Mutation_p.E1096K	NM_003716	NP_003707	Q9ULU8	CAPS1_HUMAN	Homo sapiens Ca++-dependent secretion activator (CADPS), transcript variant 1, mRNA.	1105	Interaction with DRD2.|MHD1.				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		ACACAAGATTCGATCATGTCA	0.507000														87			23		0	0	0.000184323	0	0
KIAA0368	23392	broad.mit.edu	37	9	114137453	114137453	+	Silent	SNP	C	G	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr9:114137453C>G	uc004bfe.1	-	38	4584	c.4584G>C	c.(4582-4584)ctG>ctC	p.L1528L		NM_001080398	NP_001073867			Homo sapiens KIAA0368 (KIAA0368), mRNA.											NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						CTAGCTCGCCCAGCACTGACA	0.408000														54			4		0	0	8.12818e-05	0	0
FRAS1	80144	broad.mit.edu	37	4	79403057	79403057	+	Missense_Mutation	SNP	C	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr4:79403057C>A	uc003hlb.2	+	56	8983	c.8543C>A	c.(8542-8544)cCa>cAa	p.P2848Q		NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA.	2843	Calx-beta 3.				cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						TCTGCCACACCAGGAGTTGAC	0.537000														90			6		0.000157383	0.00233702	0.000157383	1	0
CEACAM16	388551	broad.mit.edu	37	19	45206701	45206701	+	Silent	SNP	C	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr19:45206701C>T	uc010xxd.2	+	2	326	c.120C>T	c.(118-120)gtC>gtT	p.V40V		NM_001039213	NP_001034302	A7LI12	A7LI12_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 16 (CEACAM16), mRNA.	40										endometrium(3)|large_intestine(2)|lung(3)|ovary(1)	9	Lung NSC(12;0.000698)|all_lung(12;0.002)	Prostate(69;0.0376)|Ovarian(192;0.231)				TCACGCTGGTCGTCCATGGGC	0.622000														169			16		0	0	0.000422831	0	0
XYLB	9942	broad.mit.edu	37	3	38409687	38409687	+	Missense_Mutation	SNP	G	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr3:38409687G>T	uc003cic.2	+	7	694	c.585G>T	c.(583-585)ttG>ttT	p.L195F	XYLB_uc011ayp.1_Missense_Mutation_p.L58F|XYLB_uc003cid.1_Missense_Mutation_p.L117F	NM_005108	NP_005099	O75191	XYLB_HUMAN	Homo sapiens xylulokinase homolog (H. influenzae) (XYLB), mRNA.	195					D-xylose metabolic process|generation of precursor metabolites and energy|xylulose catabolic process		ATP binding|xylulokinase activity			endometrium(3)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(1)|prostate(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.00372)|Kidney(284;0.00405)		GAATTTCTTTGGTCAGTAGCT	0.488000														114			8		0.000673444	0.00850193	0.000673444	1	0
RIPK4	54101	broad.mit.edu	37	21	43161475	43161475	+	Silent	SNP	C	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr21:43161475C>A	uc002yzn.1	-	7	1926	c.1878G>T	c.(1876-1878)ctG>ctT	p.L626L		NM_020639	NP_065690	Q96T11	Q96T11_HUMAN	Homo sapiens receptor-interacting serine-threonine kinase 4 (RIPK4), mRNA.	626						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						CGTCGGAGCACAGGTCGATGA	0.692000														89			6		0.000673444	0.00850193	0.000673444	1	0
TGFB3	7043	broad.mit.edu	37	14	76429804	76429804	+	Missense_Mutation	SNP	G	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr14:76429804G>T	uc001xsc.2	-	4	1637	c.781C>A	c.(781-783)Cgt>Agt	p.R261S	TGFB3_uc001xsd.3_Missense_Mutation_p.R259S	NM_003239	NP_003230	P10600	TGFB3_HUMAN	Homo sapiens transforming growth factor, beta 3 (TGFB3), mRNA.	261					cell growth|cell-cell junction organization|detection of hypoxia|face morphogenesis|in utero embryonic development|induction of apoptosis|lung alveolus development|mammary gland development|menstrual cycle phase|negative regulation of DNA replication|negative regulation of cell proliferation|negative regulation of macrophage cytokine production|negative regulation of neuron apoptosis|odontogenesis|ossification involved in bone remodeling|palate development|platelet activation|platelet degranulation|positive regulation of DNA replication|positive regulation of SMAD protein import into nucleus|positive regulation of bone mineralization|positive regulation of cell division|positive regulation of collagen biosynthetic process|positive regulation of epithelial to mesenchymal transition|positive regulation of filopodium assembly|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of protein secretion|positive regulation of transcription from RNA polymerase II promoter|response to progesterone stimulus|salivary gland morphogenesis|transforming growth factor beta receptor signaling pathway	extracellular matrix|platelet alpha granule lumen	growth factor activity|identical protein binding|transforming growth factor beta binding|type I transforming growth factor beta receptor binding|type II transforming growth factor beta receptor binding			NS(1)|breast(1)|endometrium(4)|kidney(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	11				BRCA - Breast invasive adenocarcinoma(234;0.0169)		AGATCTCCACGGCCATGGTCA	0.577000														111			5		0.000157383	0.00233702	0.000157383	1	0
C9orf41	138199	broad.mit.edu	37	9	77611470	77611470	+	Missense_Mutation	SNP	C	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr9:77611470C>A	uc004ajq.3	-	5	1070	c.917G>T	c.(916-918)tGg>tTg	p.W306L	BC043649_uc004ajp.3_Non-coding_Transcript|C9orf41_uc011lsi.1_Non-coding_Transcript	NM_152420	NP_689633	Q8N4J0	CI041_HUMAN	Homo sapiens chromosome 9 open reading frame 41 (C9orf41), mRNA.	306								p.W306L(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|urinary_tract(2)	17						AATACAGTCCCAGGTATCTAA	0.303000														110			7		5.18039e-06	9.16098e-05	0.000157383	1	0
PTRH2	51651	broad.mit.edu	37	17	57775025	57775025	+	Silent	SNP	G	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr17:57775025G>T	uc002ixt.3	-	1	440	c.315C>A	c.(313-315)ctC>ctA	p.L105L	PTRH2_uc002ixs.3_Non-coding_Transcript	NM_016077	NP_057161	Q9Y3E5	PTH2_HUMAN	Homo sapiens peptidyl-tRNA hydrolase 2 (PTRH2), nuclear gene encoding mitochondrial protein, mRNA.	105					apoptosis|translation	mitochondrion	aminoacyl-tRNA hydrolase activity			large_intestine(1)	1	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					CCCATTGTTTGAGCATTTCAG	0.463000														164			8		0.000442599	0.00580232	0.000442599	1	0
GAS2L1	10634	broad.mit.edu	37	22	29704305	29704305	+	Silent	SNP	C	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr22:29704305C>T	uc003afa.1	+	1	409	c.210C>T	c.(208-210)acC>acT	p.T70T	GAS2L1_uc010gvm.1_Silent_p.T70T|GAS2L1_uc003afb.1_Silent_p.T70T|GAS2L1_uc003afc.1_Silent_p.T70T|GAS2L1_uc003afd.1_Silent_p.T70T|GAS2L1_uc003afe.1_Silent_p.T70T	NM_152236	NP_689422	Q99501	GA2L1_HUMAN	Homo sapiens growth arrest-specific 2 like 1 (GAS2L1), transcript variant 2, mRNA.	70	CH.				cell cycle arrest	cytoplasm|cytoskeleton				endometrium(2)|lung(2)|prostate(1)	5						ACGCCGTGACCGAGGCTGCCC	0.687000														12			3		0	0	6.4e-05	0	0
DDX60	55601	broad.mit.edu	37	4	169158938	169158938	+	Silent	SNP	T	G	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr4:169158938T>G	uc003irp.3	-	30	4465	c.4173A>C	c.(4171-4173)tcA>tcC	p.S1391S		NM_017631	NP_060101	Q8IY21	DDX60_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 60 (DDX60), mRNA.	1391							ATP binding|ATP-dependent helicase activity|RNA binding			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		GCTTTAGCACTGATAGCACCT	0.328000														39			3		0	0	6.4e-05	0	0
CCNE2	9134	broad.mit.edu	37	8	95897703	95897703	+	Silent	SNP	G	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr8:95897703G>T	uc003yhc.3	-	7	788	c.684C>A	c.(682-684)ctC>ctA	p.L228L	CCNE2_uc003yhd.2_Silent_p.L228L	NM_057749	NP_477097	O96020	CCNE2_HUMAN	Homo sapiens cyclin E2 (CCNE2), mRNA.	228					G1/S transition of mitotic cell cycle|cell cycle checkpoint|cell division|regulation of cyclin-dependent protein kinase activity	cytosol|nucleoplasm	protein kinase binding			cervix(1)|endometrium(2)|large_intestine(3)|lung(4)|prostate(1)	11	Breast(36;8.75e-07)					TTAATATAATGAGTTCCATCC	0.299000														408			17		0.000295444	0.0041451	0.000295444	1	0
LOX	4015	broad.mit.edu	37	5	121413628	121413628	+	Missense_Mutation	SNP	A	G	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr5:121413628A>G	uc003ksu.3	-	0	428	c.53T>C	c.(52-54)cTa>cCa	p.L18P	LOX_uc010jcq.3_5'Flank|LOX_uc010jcr.3_5'Flank|LOX_uc011cwk.2_5'Flank	NM_002317	NP_002308	P28300	LYOX_HUMAN	Homo sapiens lysyl oxidase (LOX), transcript variant 1, mRNA.	18					protein modification process	extracellular space	copper ion binding|protein-lysine 6-oxidase activity			endometrium(1)|lung(6)|prostate(1)	8		all_cancers(142;0.0124)|Prostate(80;0.0322)|Ovarian(225;0.0814)|Breast(839;0.143)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;2.14e-11)|OV - Ovarian serous cystadenocarcinoma(64;7.87e-10)|all cancers(49;2.49e-09)|COAD - Colon adenocarcinoma(49;0.02)		GCAGTGCACTAGCGCGCAGAG	0.701000														16			3		0	0	6.4e-05	0	0
IFNA16	3449	broad.mit.edu	37	9	21217277	21217277	+	Missense_Mutation	SNP	C	G	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr9:21217277C>G	uc003zor.1	-	0	34	c.28G>C	c.(28-30)Gcc>Ccc	p.A10P	IFNA14_uc003zoo.1_Intron	NM_002173	NP_002164	P05015	IFN16_HUMAN	Homo sapiens interferon, alpha 16 (IFNA16), mRNA.	10					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	13				Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116)		ACCAGCACGGCCATCAGTAAA	0.498000														66			4		0	0	3.59834e-05	0	0
RPL23AP32	56969	broad.mit.edu	37	2	54756603	54756603	+	Missense_Mutation	SNP	C	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr2:54756603C>A	uc010yot.1	+	0	245	c.121C>A	c.(121-123)Cgc>Agc	p.R41S	SPTBN1_uc002rxu.3_Intron|SPTBN1_uc002rxv.1_Intron					Homo sapiens ribosomal protein L23a pseudogene 32 (RPL23AP32), non-coding RNA.																		AAAGAAGATCCGCATGTCACC	0.542000														86			6		1.26484e-09	2.46759e-08	0.000157383	1	0
LRRC28	123355	broad.mit.edu	37	15	99828050	99828050	+	Silent	SNP	G	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr15:99828050G>T	uc002bva.1	+	4	434	c.279G>T	c.(277-279)ctG>ctT	p.L93L	LRRC28_uc010urs.1_Non-coding_Transcript|LRRC28_uc002bvb.1_5'UTR|LRRC28_uc010urt.1_5'UTR|LRRC28_uc002bvc.1_Silent_p.L93L|LRRC28_uc010uru.1_Silent_p.L93L|LRRC28_uc002bvd.1_Intron	NM_144598	NP_653199	Q86X40	LRC28_HUMAN	Homo sapiens leucine rich repeat containing 28 (LRRC28), mRNA.	93										endometrium(2)|large_intestine(3)|lung(6)|prostate(1)	12	Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		OV - Ovarian serous cystadenocarcinoma(32;0.00106)			TCCAATGTCTGGATCTTAGTG	0.373000														193			9		0.000219431	0.00323436	0.000219431	1	0
RNF103	7844	broad.mit.edu	37	2	86756387	86756387	+	Silent	SNP	G	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr2:86756387G>T	uc002srj.3	-	2	389	c.240C>A	c.(238-240)tcC>tcA	p.S80S	RNF103_uc002srk.3_Silent_p.S14S|RNF103_uc021vkf.1_Intron|RNF103_uc002srl.3_Intron|RNF103_uc010ytl.2_Silent_p.S109S	NM_016079	NP_001005753	O00237	RN103_HUMAN	Homo sapiens charged multivesicular body protein 3 (CHMP3), transcript variant 1, mRNA.	0					ER-associated protein catabolic process|central nervous system development	endoplasmic reticulum membrane|integral to membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(7)|skin(2)	25						TGTGTGCTTTGGATGCATACA	0.498000														65			8		0.000442599	0.00580232	0.000442599	1	0
CEP164	22897	broad.mit.edu	37	11	117267847	117267847	+	Missense_Mutation	SNP	G	C	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr11:117267847G>C	uc001prc.3	+	26	3466	c.3319G>C	c.(3319-3321)Ggg>Cgg	p.G1107R	CEP164_uc001prb.3_Missense_Mutation_p.G1110R|CEP164_uc001prf.3_Intron|CEP164_uc009yzp.1_Non-coding_Transcript|CEP164_uc001prg.1_Missense_Mutation_p.G540R	NM_014956	NP_055771	Q9UPV0	CE164_HUMAN	Homo sapiens centrosomal protein 164kDa (CEP164), mRNA.	1107					DNA repair|G2/M transition of mitotic cell cycle|cell division|mitosis	centriole|cytosol|nucleus				breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3)	47	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)		CTCTGCTGAGGGGGTAGCCCT	0.587000														54			4		0	0	3.59834e-05	0	0
ZNF197	10168	broad.mit.edu	37	3	44673611	44673611	+	Nonsense_Mutation	SNP	G	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr3:44673611G>T	uc003cnm.3	+	3	771	c.565G>T	c.(565-567)Gaa>Taa	p.E189*	ZNF197_uc003cnn.3_Nonsense_Mutation_p.E189*|ZNF197_uc003cno.3_Non-coding_Transcript|ZNF197_uc003cnp.3_Nonsense_Mutation_p.E189*	NM_006991	NP_008922	O14709	ZN197_HUMAN	Homo sapiens zinc finger protein 197 (ZNF197), transcript variant 1, mRNA.	189					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)	25				KIRC - Kidney renal clear cell carcinoma(197;0.0478)|Kidney(197;0.0598)		TCCTGCCCCTGAAGCTTCTGC	0.483000														264			11		3.27435e-08	6.31747e-07	0.000219431	1	0
KALRN	8997	broad.mit.edu	37	3	124415024	124415024	+	Missense_Mutation	SNP	C	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr3:124415024C>A	uc003ehg.3	+	53	7748	c.7621C>A	c.(7621-7623)Caa>Aaa	p.Q2541K	KALRN_uc003ehk.3_Missense_Mutation_p.Q844K	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	Homo sapiens kalirin, RhoGEF kinase (KALRN), transcript variant 1, mRNA.	2540	Ig-like C2-type.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						TCTGATGCCCCAAGACAGTGG	0.463000														113			8		1.12685e-05	0.000194597	0.000274275	1	0
RPGRIP1L	23322	broad.mit.edu	37	16	53725985	53725986	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr16:53725985_53725986GG>TT	uc002ehp.3	-	3	585_586	c.521_522CC>AA	c.(520-522)ccc>cAA	p.P174Q	RPGRIP1L_uc002eho.4_Missense_Mutation_p.P174Q|RPGRIP1L_uc010vgy.2_Missense_Mutation_p.P174Q|RPGRIP1L_uc010cbx.3_Missense_Mutation_p.P174Q|RPGRIP1L_uc010vgz.1_Missense_Mutation_p.P174Q|RPGRIP1L_uc002ehq.1_Missense_Mutation_p.P174Q	NM_015272	NP_056087	Q68CZ1	FTM_HUMAN	Homo sapiens RPGRIP1-like (RPGRIP1L), transcript variant 1, mRNA.	174					negative regulation of G-protein coupled receptor protein signaling pathway	cell-cell junction|centrosome|cilium axoneme|microtubule basal body	thromboxane A2 receptor binding			endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2)	46		all_cancers(37;0.0973)				TACCTTTCCTGGGGCATTCCTG	0.356000														344			12		0	0	6.4e-05	0	0
DSG3	1830	broad.mit.edu	37	18	29049090	29049090	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr18:29049090C>T	uc002kws.3	+	11	1784	c.1675C>T	c.(1675-1677)Cct>Tct	p.P559S		NM_001944	NP_001935	P32926	DSG3_HUMAN	Homo sapiens desmoglein 3 (DSG3), mRNA.	559					cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			ACAGATACCTCCTGGAGTATA	0.483000														116			32		0	0	0.00058488	0	0
KIAA1244	57221	broad.mit.edu	37	6	138640902	138640902	+	Missense_Mutation	SNP	C	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr6:138640902C>A	uc003qhu.3	+	27	4708	c.4537C>A	c.(4537-4539)Cgc>Agc	p.R1513S		NM_020340	NP_065073	Q5TH69	BIG3_HUMAN	Homo sapiens KIAA1244 (KIAA1244), mRNA.	1513					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		CGTTTGGCTCCGCCGGAGCCA	0.498000														129			7		0.000274275	0.00385584	0.000274275	1	0
TPTE2	93492	broad.mit.edu	37	13	20056686	20056686	+	Splice_Site	SNP	T	C	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr13:20056686T>C	uc001umd.3	-	5	331	c.120_splice	c.e5-1	p.S40_splice	TPTE2_uc009zzk.3_Intron|TPTE2_uc009zzl.3_Splice_Site_p.S40_splice|TPTE2_uc001ume.3_Intron|TPTE2_uc009zzm.3_Intron|TPTE2_uc010tcm.2_Splice_Site	NM_199254	NP_954863	Q6XPS3	TPTE2_HUMAN	Homo sapiens transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 (TPTE2), transcript variant 3, mRNA.	40						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)		CGTTCTAACATACTTTAGCCA	0.313000														147			7		0	0	0.000274275	0	0
CCDC82	79780	broad.mit.edu	37	11	96117676	96117676	+	Missense_Mutation	SNP	G	C	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr11:96117676G>C	uc001pfx.4	-	3	450	c.236C>G	c.(235-237)cCa>cGa	p.P79R	CCDC82_uc009ywp.3_Missense_Mutation_p.P79R|CCDC82_uc009ywr.3_Missense_Mutation_p.P79R|CCDC82_uc009yws.3_Missense_Mutation_p.P79R	NM_024725	NP_079001	Q8N4S0	CCD82_HUMAN	Homo sapiens coiled-coil domain containing 82 (CCDC82), mRNA.	79							protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)		BRCA - Breast invasive adenocarcinoma(274;0.154)		TTCACTTCCTGGTGTTTTATT	0.348000														128			7		0	0	8.12818e-05	0	0
CCDC23	374969	broad.mit.edu	37	1	43282134	43282134	+	Missense_Mutation	SNP	G	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:43282134G>T	uc001cib.2	-	1	317	c.82C>A	c.(82-84)Cag>Aag	p.Q28K	ERMAP_uc010ojw.1_5'Flank|ERMAP_uc001cic.1_5'Flank|ERMAP_uc001cid.1_5'Flank	NM_199342	NP_955374	Q8N300	CCD23_HUMAN	Homo sapiens coiled-coil domain containing 23 (CCDC23), mRNA.	28										large_intestine(1)	1	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				AGCTCCTGCTGGGCTGATTTC	0.468000														202			10		1.99824e-07	3.79773e-06	0.000566183	1	0
BRWD3	254065	broad.mit.edu	37	X	79942453	79942453	+	Missense_Mutation	SNP	C	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chrX:79942453C>A	uc004edt.3	-	34	4177	c.3914G>T	c.(3913-3915)tGg>tTg	p.W1305L	BRWD3_uc010nmi.2_Non-coding_Transcript|BRWD3_uc004edp.3_Missense_Mutation_p.W1134L|BRWD3_uc004edq.3_Missense_Mutation_p.W901L|BRWD3_uc010nmj.2_Missense_Mutation_p.W901L|BRWD3_uc004edr.3_Missense_Mutation_p.W975L|BRWD3_uc004eds.3_Missense_Mutation_p.W901L|BRWD3_uc004edo.3_Missense_Mutation_p.W901L|BRWD3_uc004edu.3_Missense_Mutation_p.W975L|BRWD3_uc004edv.3_Missense_Mutation_p.W901L|BRWD3_uc004edw.3_Missense_Mutation_p.W901L|BRWD3_uc004edx.3_Missense_Mutation_p.W901L|BRWD3_uc004edy.3_Missense_Mutation_p.W901L|BRWD3_uc004edz.3_Missense_Mutation_p.W975L|BRWD3_uc004eea.3_Missense_Mutation_p.W975L|BRWD3_uc004eeb.3_Missense_Mutation_p.W901L	NM_153252	NP_694984	Q6RI45	BRWD3_HUMAN	Homo sapiens bromodomain and WD repeat domain containing 3 (BRWD3), mRNA.	1305										breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						TTGTTTTTTCCAAGCATCAGG	0.388000														55			5		8.12818e-05	0.00127893	8.12818e-05	1	0
CCDC146	57639	broad.mit.edu	37	7	76916214	76916214	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr7:76916214G>A	uc003uga.3	+	15	2375	c.2248G>A	c.(2248-2250)Gaa>Aaa	p.E750K	CCDC146_uc010ldp.3_Missense_Mutation_p.E464K|CCDC146_uc003ugc.3_Missense_Mutation_p.E87K	NM_020879	NP_065930	Q8IYE0	CC146_HUMAN	Homo sapiens coiled-coil domain containing 146 (CCDC146), mRNA.	750								p.T749T(1)		breast(3)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	34		all_cancers(73;0.128)|all_lung(88;0.0986)|all_epithelial(88;0.163)|Myeloproliferative disorder(862;0.205)				AGATCTGACCGAAAAAGAAAT	0.388000														78			18		0	0	0.00074312	0	0
NOXRED1	122945	broad.mit.edu	37	14	77873192	77873192	+	Missense_Mutation	SNP	T	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr14:77873192T>A	uc001xtr.3	-	3	724	c.557A>T	c.(556-558)aAt>aTt	p.N186I	NOXRED1_uc010tvi.2_Missense_Mutation_p.N186I	NM_001113475	NP_001106946	Q6NXP6	CN148_HUMAN	Homo sapiens NADP-dependent oxidoreductase domain containing 1 (NOXRED1), mRNA.	186					proline biosynthetic process		binding|pyrroline-5-carboxylate reductase activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	9						CCGCAAGATATTGGTGTGGTT	0.468000														24			5		0	0	0.000602214	0	0
DHX34	9704	broad.mit.edu	37	19	47876076	47876076	+	Missense_Mutation	SNP	C	G	G	rs140955733		TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr19:47876076C>G	uc010xyn.2	+	7	2207	c.1858C>G	c.(1858-1860)Cgc>Ggc	p.R620G	DHX34_uc010elc.1_Missense_Mutation_p.R535G	NM_014681	NP_055496	Q14147	DHX34_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 34 (DHX34), mRNA.	620						intracellular	ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)		GCCCTTCACCCGCAGCGCCCA	0.667000														31			4		0	0	8.12818e-05	0	0
NEO1	4756	broad.mit.edu	37	15	73409065	73409065	+	Silent	SNP	G	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr15:73409065G>A	uc002avm.4	+	1	507	c.315G>A	c.(313-315)ccG>ccA	p.P105P	NEO1_uc010ukx.2_Silent_p.P105P|NEO1_uc010uky.2_Silent_p.P105P|NEO1_uc002avn.4_Silent_p.P105P|NEO1_uc010ukz.2_5'UTR	NM_002499	NP_002490	Q92859	NEO1_HUMAN	Homo sapiens neogenin 1 (NEO1), transcript variant 1, mRNA.	105	Ig-like C2-type 1.				axon guidance|cell adhesion|positive regulation of muscle cell differentiation	Golgi apparatus|integral to plasma membrane|nucleus				NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	57						AGCTTCTCCCGGATGGATCTT	0.383000														167			14		0	0	0.000219431	0	0
SEMA3C	10512	broad.mit.edu	37	7	80418770	80418770	+	Silent	SNP	C	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr7:80418770C>A	uc011kgw.2	-	11	1339	c.1260G>T	c.(1258-1260)cgG>cgT	p.R420R	SEMA3C_uc003uhj.3_Silent_p.R402R	NM_006379	NP_006370	Q99985	SEM3C_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C (SEMA3C), mRNA.	402	Sema.				immune response|response to drug	membrane	receptor activity			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						GAGGATGGTTCCGAATAAAAG	0.413000														40			5		0.000602214	0.00786534	0.000602214	1	0
SNAI2	6591	broad.mit.edu	37	8	49831458	49831458	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr8:49831458T>C	uc003xqp.3	-	2	890	c.715A>G	c.(715-717)Aag>Gag	p.K239E		NM_003068	NP_003059	O43623	SNAI2_HUMAN	Homo sapiens snail homolog 2 (Drosophila) (SNAI2), mRNA.	239					canonical Wnt receptor signaling pathway|ectoderm and mesoderm interaction|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.V238V(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)	18		all_cancers(86;0.0368)|all_epithelial(80;0.000624)|Lung NSC(129;0.0019)|all_lung(136;0.00502)				TGGTATTTCTTTACATCAGAA	0.493000														128			22		0	0	0.000175454	0	0
GABRR1	2569	broad.mit.edu	37	6	89891688	89891688	+	Missense_Mutation	SNP	C	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr6:89891688C>A	uc003pna.2	-	7	1340	c.885G>T	c.(883-885)atG>atT	p.M295I	GABRR1_uc011dzv.1_Missense_Mutation_p.M272I	NM_002042	NP_002033	P24046	GBRR1_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) receptor, rho 1 (GABRR1), mRNA.	295					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(7)|lung(16)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	35		all_cancers(76;9.49e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.46e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)		BRCA - Breast invasive adenocarcinoma(108;0.00917)	Picrotoxin(DB00466)	ACAGCATGACCATCAGGGTAG	0.522000														101			6		0.000157383	0.00233702	0.000157383	1	0
TBC1D2B	23102	broad.mit.edu	37	15	78317735	78317735	+	Missense_Mutation	SNP	C	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr15:78317735C>A	uc002bcy.4	-	4	952	c.952G>T	c.(952-954)Ggt>Tgt	p.G318C	TBC1D2B_uc010bla.3_Missense_Mutation_p.G318C	NM_144572	NP_653173	Q9UPU7	TBD2B_HUMAN	Homo sapiens TBC1 domain family, member 2B (TBC1D2B), transcript variant 1, mRNA.	318						intracellular	Rab GTPase activator activity|protein binding			breast(3)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26						GAAGGGTCACCACTGCTGTGA	0.522000														86			6		0.000442599	0.00580232	0.000442599	1	0
PIGK	10026	broad.mit.edu	37	1	77627362	77627362	+	Missense_Mutation	SNP	G	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:77627362G>T	uc001dhk.3	-	6	664	c.619C>A	c.(619-621)Caa>Aaa	p.Q207K	PIGK_uc010orj.2_Missense_Mutation_p.Q131K|PIGK_uc009wbx.3_Missense_Mutation_p.Q113K|PIGK_uc001dhl.1_Missense_Mutation_p.Q207K	NM_005482	NP_005473	Q92643	GPI8_HUMAN	Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class K (PIGK), mRNA.	207					C-terminal protein lipidation|attachment of GPI anchor to protein|protein thiol-disulfide exchange|proteolysis	GPI-anchor transamidase complex	GPI-anchor transamidase activity|cysteine-type endopeptidase activity|protein binding			endometrium(5)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	19						GATGCTCCTTGGCAAGTATCA	0.363000														89			6		0.000157383	0.00233702	0.000157383	1	0
PLXDC2	84898	broad.mit.edu	37	10	20290736	20290736	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr10:20290736C>T	uc001iqg.1	+	1	782	c.145C>T	c.(145-147)Cac>Tac	p.H49Y	PLXDC2_uc001iqh.1_Missense_Mutation_p.H49Y	NM_032812	NP_116201	Q6UX71	PXDC2_HUMAN	Homo sapiens plexin domain containing 2 (PLXDC2), mRNA.	49						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(9)|ovary(2)|skin(3)|stomach(1)	34						GGCCTTCCCTCACACAGAGGA	0.473000														43			9		0	0	0.000442599	0	0
TSPYL5	85453	broad.mit.edu	37	8	98289019	98289019	+	Missense_Mutation	SNP	C	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr8:98289019C>A	uc003yhy.3	-	0	1158	c.1054G>T	c.(1054-1056)Ggg>Tgg	p.G352W		NM_033512	NP_277047	Q86VY4	TSYL5_HUMAN	Homo sapiens TSPY-like 5 (TSPYL5), mRNA.	352					cellular response to gamma radiation|nucleosome assembly|positive regulation of cell proliferation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|regulation of growth	nucleus	protein binding			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	20	Breast(36;2.56e-06)					GAAAACCACCCAAAGAAACTA	0.488000														170			9		0.000673444	0.00850193	0.000673444	1	0
MUC16	94025	broad.mit.edu	37	19	9091124	9091124	+	Missense_Mutation	SNP	C	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr19:9091124C>A	uc002mkp.3	-	0	895	c.691G>T	c.(691-693)Ggg>Tgg	p.G231W		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	231	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.G231G(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TAAAGTGTCCCAAATGATGGG	0.458000														107			20		7.45023e-12	1.4678e-10	0.000175454	1	0
UBR4	23352	broad.mit.edu	37	1	19423029	19423029	+	Silent	SNP	G	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:19423029G>A	uc001bbi.3	-	91	13510	c.13506C>T	c.(13504-13506)cgC>cgT	p.R4502R	UBR4_uc010ocv.2_Silent_p.R65R|UBR4_uc009vph.3_Silent_p.R136R|UBR4_uc010ocw.2_Silent_p.R166R|UBR4_uc001bbg.3_Silent_p.R213R|UBR4_uc001bbh.3_Silent_p.R211R	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 4 (UBR4), mRNA.	4502					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		TTAGAAGGTGGCGTCCCTGCT	0.537000														125			14		0	0	0.000308642	0	0
CLPX	10845	broad.mit.edu	37	15	65471350	65471350	+	Missense_Mutation	SNP	C	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr15:65471350C>A	uc002aom.3	-	2	352	c.280G>T	c.(280-282)Ggg>Tgg	p.G94W	CLPX_uc010uiu.2_Non-coding_Transcript|CLPX_uc010bhg.1_Missense_Mutation_p.G94W	NM_006660	NP_006651	O76031	CLPX_HUMAN	Homo sapiens ClpX caseinolytic peptidase X homolog (E. coli) (CLPX), mRNA.	94					protein folding|proteolysis involved in cellular protein catabolic process	mitochondrial endopeptidase Clp complex|mitochondrial inner membrane|mitochondrial nucleoid	ATP binding|ATPase activity|metal ion binding|peptidase activator activity|unfolded protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1)|skin(2)	16						CCAGAATTCCCAGAGCCTGAT	0.413000														129			10		0.000442599	0.00580232	0.000442599	1	0
GRIN2B	2904	broad.mit.edu	37	12	13716160	13716160	+	Missense_Mutation	SNP	G	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr12:13716160G>T	uc001rbt.2	-	12	4191	c.4012C>A	c.(4012-4014)Cac>Aac	p.H1338N		NM_000834	NP_000825	Q13224	NMDE2_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2B (GRIN2B), mRNA.	1338					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|glycine binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TCAAACATGTGGGCGTAGGGG	0.612000														82			7		0.000274275	0.00385584	0.000274275	1	0
DYNC1LI2	1783	broad.mit.edu	37	16	66783166	66783166	+	Nonsense_Mutation	SNP	C	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr16:66783166C>A	uc002eqb.1	-	2	263	c.232G>T	c.(232-234)Gag>Tag	p.E78*	DYNC1LI2_uc010vis.1_Nonsense_Mutation_p.E78*|DYNC1LI2_uc010vit.2_Nonsense_Mutation_p.E78*|DYNC1LI2_uc010viu.2_Intron	NM_006141	NP_006132	O43237	DC1L2_HUMAN	Homo sapiens dynein, cytoplasmic 1, light intermediate chain 2 (DYNC1LI2), mRNA.	78					transport	centrosome|cytoplasmic dynein complex|microtubule	ATP binding|motor activity			central_nervous_system(3)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(4)|stomach(1)	15		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0907)|Epithelial(162;0.212)		TTGCCATGCTCAGCTCCTTGT	0.468000														109			7		0.000673444	0.00850193	0.000673444	1	0
SWT1	54823	broad.mit.edu	37	1	185144099	185144099	+	Missense_Mutation	SNP	C	A	A	rs146664882	byFrequency	TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:185144099C>A	uc001grg.4	+	4	934	c.820C>A	c.(820-822)Cag>Aag	p.Q274K	SWT1_uc001grh.4_Missense_Mutation_p.Q274K	NM_001105518	NP_060143	Q5T5J6	SWT1_HUMAN	Homo sapiens SWT1 RNA endoribonuclease homolog (S. cerevisiae) (SWT1), transcript variant 2, mRNA.	274								p.S273S(1)		breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(16)|ovary(1)|prostate(1)|urinary_tract(1)	41						GGAAAGCTCCCAGGTTTCATT	0.368000														184			9		0.000274275	0.00385584	0.000274275	1	0
MAN2C1	4123	broad.mit.edu	37	15	75652945	75652945	+	Silent	SNP	G	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr15:75652945G>A	uc002bah.3	-	12	1562	c.1545C>T	c.(1543-1545)ttC>ttT	p.F515F	MAN2C1_uc010bkk.3_Silent_p.F416F|MAN2C1_uc002baf.3_Silent_p.F515F|MAN2C1_uc002bag.3_Silent_p.F515F|MAN2C1_uc010umi.1_Silent_p.F297F			Q9NTJ4	MA2C1_HUMAN	Homo sapiens mannosidase, alpha, class 2C, member 1 (MAN2C1), mRNA.	515					mannose metabolic process		alpha-mannosidase activity|carbohydrate binding|protein binding|zinc ion binding			central_nervous_system(4)|endometrium(4)|kidney(6)|large_intestine(6)|lung(20)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	44						GCAGCTCCAAGAAGAGCTCCC	0.587000														68			15		0	0	0.000566183	0	0
ATP8B2	57198	broad.mit.edu	37	1	154314975	154314975	+	Silent	SNP	G	C	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:154314975G>C	uc001fex.3	+	13	1362	c.1362G>C	c.(1360-1362)ctG>ctC	p.L454L		NM_020452	NP_065185	P98198	AT8B2_HUMAN	Homo sapiens ATPase, class I, type 8B, member 2 (ATP8B2), transcript variant 1, mRNA.	440					ATP biosynthetic process	plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity		IL6R/ATP8B2(2)	breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			TTGACGTCCTGGGACACAAAG	0.478000														94			5		0	0	3.59834e-05	0	0
APOB	338	broad.mit.edu	37	2	21233784	21233784	+	Missense_Mutation	SNP	G	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr2:21233784G>T	uc002red.3	-	25	6084	c.5956C>A	c.(5956-5958)Caa>Aaa	p.Q1986K		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	1986					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	p.T1985T(1)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TTGTTAAATTGGGTCTTGAGT	0.463000														277			10		0.000308642	0.00430437	0.000308642	1	0
HDAC8	55869	broad.mit.edu	37	X	71681864	71681864	+	Missense_Mutation	SNP	G	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chrX:71681864G>T	uc004eau.3	-	8	1337	c.995C>A	c.(994-996)cCa>cAa	p.P332Q	HDAC8_uc011mqe.2_Missense_Mutation_p.P189Q|HDAC8_uc011mqg.2_Missense_Mutation_p.P241Q|HDAC8_uc011mqf.2_Non-coding_Transcript	NM_018486	NP_060956	Q9BY41	HDAC8_HUMAN	Homo sapiens histone deacetylase 8 (HDAC8), transcript variant 1, mRNA.	332					chromatin assembly or disassembly|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|nuclear chromosome	NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|histone deacetylase activity (H3-K16 specific)|metal ion binding|transcription factor binding			breast(3)|cervix(1)|endometrium(1)|lung(4)|prostate(1)	10	Renal(35;0.156)				Vorinostat(DB02546)	CTCATGATCTGGGATCTCAGA	0.478000														48			5		0.000274275	0.00385584	0.000274275	1	0
LONRF2	164832	broad.mit.edu	37	2	100919445	100919445	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr2:100919445C>T	uc002tal.4	-	2	1499	c.859G>A	c.(859-861)Gaa>Aaa	p.E287K	LONRF2_uc010yvs.2_Non-coding_Transcript	NM_198461	NP_940863	Q1L5Z9	LONF2_HUMAN	Homo sapiens LON peptidase N-terminal domain and ring finger 2 (LONRF2), mRNA.	287					proteolysis		ATP-dependent peptidase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	34						TAGAGAAATTCCTTTAACACT	0.393000														87			15		0	0	0.000422831	0	0
GRIN2A	2903	broad.mit.edu	37	16	9916226	9916226	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr16:9916226C>T	uc010uym.2	-	10	2373	c.2063G>A	c.(2062-2064)gGa>gAa	p.G688E	GRIN2A_uc002czo.4_Missense_Mutation_p.G688E|GRIN2A_uc010uyn.2_Missense_Mutation_p.G531E|GRIN2A_uc002czr.4_Missense_Mutation_p.G688E	NM_000833	NP_001127879	Q12879	NMDE1_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA.	688					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	CTCCGTGCTTCCATTAGGCAC	0.443000														68			6		0	0	3.59834e-05	0	0
CACNA1I	8911	broad.mit.edu	37	22	40060863	40060863	+	Silent	SNP	C	G	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr22:40060863C>G	uc003ayc.3	+	20	3786	c.3786C>G	c.(3784-3786)gcC>gcG	p.A1262A	CACNA1I_uc003ayd.3_Silent_p.A1227A|CACNA1I_uc003aye.3_Silent_p.A1177A|CACNA1I_uc003ayf.3_Silent_p.A1142A	NM_021096	NP_066919	Q9P0X4	CAC1I_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1I subunit (CACNA1I), transcript variant 1, mRNA.	1262					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	TGGCCTCAGCCGGGGGAGCCA	0.642000														39			4		0	0	3.59834e-05	0	0
WIPF2	147179	broad.mit.edu	37	17	38433420	38433420	+	Silent	SNP	C	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr17:38433420C>A	uc002hug.1	+	6	1506	c.1266C>A	c.(1264-1266)ccC>ccA	p.P422P	WIPF2_uc002huh.1_Silent_p.P272P|WIPF2_uc010cww.1_Silent_p.P272P|WIPF2_uc002hui.1_Silent_p.P422P|WIPF2_uc010cwx.1_Silent_p.P164P|WIPF2_uc010cwy.1_Silent_p.P422P	NM_133264	NP_573571	Q8TF74	WIPF2_HUMAN	Homo sapiens WAS/WASL interacting protein family, member 2 (WIPF2), mRNA.	422						cytoplasm|cytoskeleton	actin binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	30						GGATATATCCCAGCAAAACAA	0.348000										HNSCC(43;0.11)				143			11		7.93312e-07	1.45819e-05	0.000219431	1	0
BCAS3	54828	broad.mit.edu	37	17	59445849	59445849	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr17:59445849G>A	uc002iyv.4	+	23	2741	c.2632G>A	c.(2632-2634)Gga>Aga	p.G878R	BCAS3_uc002iyu.4_Missense_Mutation_p.G863R|BCAS3_uc002iyw.4_Missense_Mutation_p.G859R|BCAS3_uc002iyy.4_Missense_Mutation_p.G634R|BCAS3_uc002iyz.4_Missense_Mutation_p.G432R|BCAS3_uc002iza.4_Missense_Mutation_p.G417R|BCAS3_uc002izb.4_Non-coding_Transcript|BCAS3_uc002izc.4_Non-coding_Transcript	NM_001099432	NP_001092902	Q9H6U6	BCAS3_HUMAN	Homo sapiens breast carcinoma amplified sequence 3 (BCAS3), transcript variant 1, mRNA.	878						nucleus				NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44			BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)			CGTGGGATCCGGAACAGGTAA	0.587000														30			4		0	0	0.00024832	0	0
GRIA3	2892	broad.mit.edu	37	X	122551581	122551581	+	Missense_Mutation	SNP	G	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chrX:122551581G>T	uc004etq.4	+	10	2121	c.1829G>T	c.(1828-1830)tGg>tTg	p.W610L	GRIA3_uc004etr.4_Missense_Mutation_p.W610L|GRIA3_uc004ets.4_Non-coding_Transcript|GRIA3_uc011muf.1_Missense_Mutation_p.W594L	NM_007325	NP_015564	P42263	GRIA3_HUMAN	Homo sapiens glutamate receptor, ionotrophic, AMPA 3 (GRIA3), transcript variant 1, mRNA.	610					glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					L-Glutamic Acid(DB00142)	AACAGTCTTTGGTTTTCCTTG	0.408000														145			11		4.3838e-07	8.19794e-06	0.000151284	1	0
LRRC16B	90668	broad.mit.edu	37	14	24523675	24523675	+	Missense_Mutation	SNP	C	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr14:24523675C>A	uc001wlj.2	+	4	474	c.317C>A	c.(316-318)aCa>aAa	p.T106K		NM_138360	NP_612369	Q8ND23	LR16B_HUMAN	Homo sapiens leucine rich repeat containing 16B (LRRC16B), mRNA.	106										breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	52				GBM - Glioblastoma multiforme(265;0.019)		GACCAGGTGACACGACATGTG	0.577000														69			6		3.59834e-05	0.000594959	3.59834e-05	1	0
TMEM50A	23585	broad.mit.edu	37	1	25669550	25669550	+	Silent	SNP	C	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:25669550C>A	uc001bke.3	+	2	364	c.192C>A	c.(190-192)acC>acA	p.T64T	TMEM50A_uc010oeq.2_Silent_p.T64T|TMEM50A_uc009vrr.3_Intron|TMEM50A_uc009vrs.3_Intron	NM_014313	NP_055128	O95807	TM50A_HUMAN	Homo sapiens transmembrane protein 50A (TMEM50A), mRNA.	64						endoplasmic reticulum|integral to membrane				endometrium(1)|kidney(1)|large_intestine(3)|lung(1)	6		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;3.47e-27)|Colorectal(126;1.1e-08)|COAD - Colon adenocarcinoma(152;7.48e-07)|STAD - Stomach adenocarcinoma(196;0.00035)|BRCA - Breast invasive adenocarcinoma(304;0.00047)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|GBM - Glioblastoma multiforme(114;0.00106)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.204)		TTATAGCAACCATAGCCTTCC	0.348000														134			8		0.000673444	0.00850193	0.000673444	1	0
HPSE	10855	broad.mit.edu	37	4	84240499	84240499	+	Nonsense_Mutation	SNP	G	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr4:84240499G>T	uc003hoj.4	-	2	596	c.497C>A	c.(496-498)tCa>tAa	p.S166*	HPSE_uc003hoi.3_Nonsense_Mutation_p.S166*|HPSE_uc011ccq.2_Non-coding_Transcript|HPSE_uc011ccr.2_Non-coding_Transcript|HPSE_uc011ccs.2_Silent_p.L23L|HPSE_uc003hok.4_Nonsense_Mutation_p.S166*|HPSE_uc011cct.2_Nonsense_Mutation_p.S166*|HPSE_uc021xpr.1_Nonsense_Mutation_p.S166*	NM_001098540	NP_006656	Q9Y251	HPSE_HUMAN	Homo sapiens heparanase (HPSE), transcript variant 2, mRNA.	166					carbohydrate metabolic process|cell adhesion|proteoglycan metabolic process	extracellular region|lysosomal membrane|nucleus	beta-glucuronidase activity|cation binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	20		Hepatocellular(203;0.114)		COAD - Colon adenocarcinoma(81;0.141)	Heparin(DB01109)	TTTCTTACTTGAGTAGGTGCT	0.468000														158			8		1.5842e-08	3.06498e-07	0.000151284	1	0
ACO2	50	broad.mit.edu	37	22	41918986	41918986	+	Missense_Mutation	SNP	G	C	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr22:41918986G>C	uc003bac.3	+	9	1313	c.1291G>C	c.(1291-1293)Ggc>Cgc	p.G431R		NM_001098	NP_001089	Q99798	ACON_HUMAN	Homo sapiens aconitase 2, mitochondrial (ACO2), nuclear gene encoding mitochondrial protein, mRNA.	431					citrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleus	4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron ion binding|isocitrate hydro-lyase (cis-aconitate-forming) activity	p.D430E(1)		breast(3)|endometrium(5)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	23						TGAGCGGGACGGCTATGTGAG	0.642000														75			10		0	0	0.000442599	0	0
ZNF845	91664	broad.mit.edu	37	19	53855830	53855830	+	Silent	SNP	T	C	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr19:53855830T>C	uc010ydv.1	+	3	2019	c.1902T>C	c.(1900-1902)ccT>ccC	p.P634P	ZNF845_uc010ydw.1_Silent_p.P634P	NM_138374	NP_612383	Q96IR2	ZN845_HUMAN	Homo sapiens zinc finger protein 845 (ZNF845), mRNA.	634					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						GAGAGAAACCTTACAAATGTG	0.363000														61			11		0	0	0.000673444	0	0
CNOT10	25904	broad.mit.edu	37	3	32757720	32757720	+	Missense_Mutation	SNP	G	C	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr3:32757720G>C	uc011axj.1	+	5	834	c.757G>C	c.(757-759)Ggt>Cgt	p.G253R	CNOT10_uc011axi.1_5'UTR|CNOT10_uc003cfc.1_Missense_Mutation_p.G193R|CNOT10_uc003cfd.1_Missense_Mutation_p.G192R|CNOT10_uc003cfe.1_Missense_Mutation_p.G193R|CNOT10_uc010hfv.1_Non-coding_Transcript|CNOT10_uc010hfw.1_5'UTR	NM_015442	NP_056257	Q9H9A5	CNOTA_HUMAN	Homo sapiens CCR4-NOT transcription complex, subunit 10 (CNOT10), mRNA.	193					nuclear-transcribed mRNA poly(A) tail shortening	cytosol	protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(3)	23						CCTACAGACTGGTAATAACAA	0.294000														211			8		0	0	0.000274275	0	0
RCC1	1104	broad.mit.edu	37	1	28861871	28861871	+	Missense_Mutation	SNP	C	G	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:28861871C>G	uc001bqb.2	+	8	1039	c.640C>G	c.(640-642)Cgt>Ggt	p.R214G	RCC1_uc001bqa.2_Missense_Mutation_p.R214G|RCC1_uc001bqc.2_Missense_Mutation_p.R214G|RCC1_uc001bqe.2_Missense_Mutation_p.R231G|RCC1_uc001bqf.2_Missense_Mutation_p.R245G|RCC1_uc001bqg.2_Missense_Mutation_p.R214G	NM_001269	NP_001260	P18754	RCC1_HUMAN	Homo sapiens regulator of chromosome condensation 1 (RCC1), transcript variant 3, mRNA.	214					G1/S transition of mitotic cell cycle|cell division|chromosome segregation|mitosis|mitotic spindle organization|regulation of S phase of mitotic cell cycle|regulation of mitosis|spindle assembly|viral reproduction	condensed nuclear chromosome|cytoplasm|nuclear chromatin|nuclear membrane|nucleoplasm	Ran guanyl-nucleotide exchange factor activity|histone binding|nucleosomal DNA binding			breast(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;0.000318)|all_lung(284;0.000434)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.00989)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)|Medulloblastoma(700;0.123)		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|KIRC - Kidney renal clear cell carcinoma(1967;0.0101)|BRCA - Breast invasive adenocarcinoma(304;0.022)|READ - Rectum adenocarcinoma(331;0.0649)		ATTTGCCAACCGTGGTGGCCG	0.597000														50			4		0	0	3.59834e-05	0	0
SND1	27044	broad.mit.edu	37	7	127484453	127484453	+	Missense_Mutation	SNP	G	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr7:127484453G>T	uc003vmi.3	+	11	1545	c.1319G>T	c.(1318-1320)tGt>tTt	p.C440F	SND1_uc010lle.3_Missense_Mutation_p.C93F	NM_014390	NP_055205	Q7KZF4	SND1_HUMAN	Homo sapiens staphylococcal nuclease and tudor domain containing 1 (SND1), mRNA.	440	TNase-like 3.				gene silencing by RNA|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	RNA-induced silencing complex|melanosome|nucleus	nuclease activity|nucleic acid binding|protein binding|transcription cofactor activity			central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	41						GAGCGTACCTGTGCCACTGTC	0.488000														45			4		3.59834e-05	0.000594959	3.59834e-05	1	0
SDHAP2	727956	broad.mit.edu	37	3	195400728	195400728	+	Silent	SNP	A	G	G	rs12107841	by1000genomes	TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr3:195400728A>G	uc003fuw.3	+	8	1218	c.24A>G	c.(22-24)ccA>ccG	p.P8P	SDHAP2_uc011btb.1_Missense_Mutation_p.S156G|SDHAP2_uc011btc.1_Non-coding_Transcript|SDHAP2_uc003fuv.3_Non-coding_Transcript					Homo sapiens succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 2 (SDHAP2), non-coding RNA.																		GATTGTGCCCAGCCTGTACGC	0.587000														53			7		0	0	0.000442599	0	0
KLHL12	59349	broad.mit.edu	37	1	202862510	202862510	+	Silent	SNP	C	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:202862510C>A	uc001gyo.1	-	10	1637	c.1437G>T	c.(1435-1437)ggG>ggT	p.G479G	KLHL12_uc001gym.1_Intron|KLHL12_uc001gyn.1_Intron|KLHL12_uc010pqc.1_Silent_p.G517G|KLHL12_uc009xah.1_Silent_p.G378G	NM_021633	NP_067646	Q53G59	KLH12_HUMAN	Homo sapiens kelch-like 12 (Drosophila) (KLHL12), mRNA.	479	Interaction with DVL3.				Wnt receptor signaling pathway		protein binding			NS(3)|breast(2)|endometrium(1)|large_intestine(1)|lung(6)|stomach(1)	14			BRCA - Breast invasive adenocarcinoma(75;0.166)			CATCAAATCCCCCCACCACAT	0.453000														135			9		3.86212e-05	0.000634077	0.000673444	1	0
NEK5	341676	broad.mit.edu	37	13	52639571	52639571	+	Missense_Mutation	SNP	G	C	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr13:52639571G>C	uc001vge.3	-	21	2239	c.2099C>G	c.(2098-2100)cCg>cGg	p.P700R		NM_199289	NP_954983	Q6P3R8	NEK5_HUMAN	Homo sapiens NIMA (never in mitosis gene a)-related kinase 5 (NEK5), mRNA.	700							ATP binding|metal ion binding|protein serine/threonine kinase activity	p.P700L(1)		breast(5)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;3.7e-08)		TGGGCTGTACGGGTCCTTGGT	0.502000														108			5		0	0	0.000274275	0	0
RBL1	5933	broad.mit.edu	37	20	35696536	35696536	+	Missense_Mutation	SNP	G	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr20:35696536G>T	uc002xgi.3	-	2	423	c.344C>A	c.(343-345)cCa>cAa	p.P115Q	RBL1_uc002xgj.1_Missense_Mutation_p.P115Q|RBL1_uc010gfv.1_Non-coding_Transcript	NM_002895	NP_002886	P28749	RBL1_HUMAN	Homo sapiens retinoblastoma-like 1 (p107) (RBL1), transcript variant 1, mRNA.	115					cell cycle|chromatin modification|interspecies interaction between organisms|regulation of cell cycle|regulation of lipid kinase activity|transcription, DNA-dependent		transcription factor binding			NS(1)|breast(1)|endometrium(7)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	42		Myeloproliferative disorder(115;0.00878)				AAATTCTTGTGGTAGATTTGA	0.269000														113			7		0.000673444	0.00850193	0.000673444	1	0
DYNC1H1	1778	broad.mit.edu	37	14	102461081	102461081	+	Silent	SNP	C	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr14:102461081C>A	uc001yks.2	+	12	3392	c.3228C>A	c.(3226-3228)ctC>ctA	p.L1076L		NM_001376	NP_001367	Q14204	DYHC1_HUMAN	Homo sapiens dynein, cytoplasmic 1, heavy chain 1 (DYNC1H1), mRNA.	1076	Stem (By similarity).				G2/M transition of mitotic cell cycle|cytoplasmic mRNA processing body assembly|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	Golgi apparatus|centrosome|cytoplasmic dynein complex|cytosol|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						GAGAAGATCTCAACAAATGGC	0.393000														91			9		0.000673444	0.00850193	0.000673444	1	0
RNF212	285498	broad.mit.edu	37	4	1102144	1102144	+	Missense_Mutation	SNP	A	G	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr4:1102144A>G	uc003gcj.3	-	1	258	c.158T>C	c.(157-159)tTg>tCg	p.L53S	RNF212_uc003gci.3_Missense_Mutation_p.L53S|RNF212_uc010ibp.3_Non-coding_Transcript|RNF212_uc010ibq.3_Missense_Mutation_p.L53S|RNF212_uc021xkh.1_Missense_Mutation_p.L53S	NM_001131034	NP_001124506	Q495C1	RN212_HUMAN	Homo sapiens ring finger protein 212 (RNF212), transcript variant 1, mRNA.	53							zinc ion binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	10			OV - Ovarian serous cystadenocarcinoma(23;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (64;0.151)		CTTTGAAAGCAAAACTGTACG	0.274000														287			16		0	0	0.000132079	0	0
TDP1	55775	broad.mit.edu	37	14	90450897	90450897	+	Nonsense_Mutation	SNP	G	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr14:90450897G>T	uc001xxy.3	+	8	1221	c.922G>T	c.(922-924)Gga>Tga	p.G308*	TDP1_uc010atm.3_Non-coding_Transcript|TDP1_uc001xxz.3_Nonsense_Mutation_p.G308*|TDP1_uc010atn.3_Nonsense_Mutation_p.G308*|TDP1_uc001xya.3_Nonsense_Mutation_p.G69*|TDP1_uc001xyb.3_Non-coding_Transcript|TDP1_uc001xyd.1_5'Flank	NM_018319	NP_060789	Q9NUW8	TYDP1_HUMAN	Homo sapiens tyrosyl-DNA phosphodiesterase 1 (TDP1), transcript variant 1, mRNA.	308					cell death|double-strand break repair|single strand break repair	cytoplasm|nucleus	3'-tyrosyl-DNA phosphodiesterase activity|double-stranded DNA binding|exonuclease activity|protein binding|single-stranded DNA binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|urinary_tract(1)	25		all_cancers(154;0.185)		COAD - Colon adenocarcinoma(157;0.23)		AATTGCTGATGGAACCCACAA	0.403000								Repair of DNA-protein crosslinks						148			8		3.07112e-06	5.48644e-05	6.40141e-05	1	0
FER	2241	broad.mit.edu	37	5	108203558	108203558	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr5:108203558G>A	uc003kop.1	+	5	956	c.572G>A	c.(571-573)gGg>gAg	p.G191E	FER_uc011cve.1_Missense_Mutation_p.G131E|FER_uc011cvf.1_Non-coding_Transcript|FER_uc011cvg.1_Missense_Mutation_p.G16E	NM_005246	NP_005237	P16591	FER_HUMAN	Homo sapiens fer (fps/fes related) tyrosine kinase (FER), mRNA.	191	Important for interaction with membranes containing phosphoinositides.				intracellular signal transduction|peptidyl-tyrosine phosphorylation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			NS(2)|biliary_tract(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	32		all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152)		OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174)		GCGTTGAAAGGGGCACAGCTC	0.398000														47			4		0	0	0.00024832	0	0
TCOF1	6949	broad.mit.edu	37	5	149754676	149754676	+	Missense_Mutation	SNP	G	C	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr5:149754676G>C	uc003lry.3	+	9	1546	c.1438G>C	c.(1438-1440)Gag>Cag	p.E480Q	TCOF1_uc003lrw.3_Missense_Mutation_p.E480Q|TCOF1_uc003lrz.3_Missense_Mutation_p.E480Q|TCOF1_uc011dch.2_Missense_Mutation_p.E480Q|TCOF1_uc003lrx.3_Missense_Mutation_p.E403Q|TCOF1_uc003lsa.3_Missense_Mutation_p.E403Q|TCOF1_uc011dci.1_5'Flank	NM_001135243	NP_001128715	Q13428	TCOF_HUMAN	Homo sapiens Treacher Collins-Franceschetti syndrome 1 (TCOF1), transcript variant 4, mRNA.	480					skeletal system development	nucleolus	protein binding|transporter activity			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AAGCAGCAGCGAGGAGTCAGA	0.632000														49			3		0	0	0.000602214	0	0
FAT4	79633	broad.mit.edu	37	4	126242336	126242336	+	Missense_Mutation	SNP	G	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr4:126242336G>T	uc003ifj.4	+	0	4770	c.4770G>T	c.(4768-4770)ttG>ttT	p.L1590F		NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	1590	Cadherin 15.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.L1590L(1)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CTTCAGCGTTGGTGCCTTCAC	0.458000														180			9		0.000308642	0.00430437	0.000308642	1	0
MMP27	64066	broad.mit.edu	37	11	102573542	102573542	+	Silent	SNP	C	G	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr11:102573542C>G	uc001phd.1	-	3	584	c.561G>C	c.(559-561)ccG>ccC	p.P187P		NM_022122	NP_071405	Q9H306	MMP27_HUMAN	Homo sapiens matrix metallopeptidase 27 (MMP27), mRNA.	187					collagen catabolic process|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	p.P187P(4)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(12)|ovary(2)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45	all_cancers(8;0.000843)|all_epithelial(12;0.00362)|Lung NSC(15;0.21)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0509)|Lung(13;0.0696)|LUSC - Lung squamous cell carcinoma(19;0.13)|all cancers(10;0.176)	BRCA - Breast invasive adenocarcinoma(274;0.0151)		CACCCAGACCCGGACCAGGAG	0.443000														110			6		0	0	3.59834e-05	0	0
MUC7	4589	broad.mit.edu	37	4	71347008	71347008	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr4:71347008T>C	uc011cat.2	+	3	835	c.547T>C	c.(547-549)Tca>Cca	p.S183P	MUC7_uc011cau.2_Missense_Mutation_p.S183P|MUC7_uc003hfj.3_Missense_Mutation_p.S183P	NM_001145006	NP_689504	Q8TAX7	MUC7_HUMAN	Homo sapiens mucin 7, secreted (MUC7), transcript variant 1, mRNA.	183	Thr-rich.					extracellular region	protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			ACCATCTTCCTCAGCTCCACC	0.572000														176			6		0	0	0.000274275	0	0
DNAH5	1767	broad.mit.edu	37	5	13736003	13736003	+	Nonsense_Mutation	SNP	C	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr5:13736003C>A	uc003jfd.2	-	66	11536	c.11494G>T	c.(11494-11496)Gag>Tag	p.E3832*	DNAH5_uc003jfc.2_5'UTR	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	3832					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					AAGCGCATCTCAGTAATGAGG	0.483000									Kartagener syndrome					124			7		1.12685e-05	0.000194597	0.000274275	1	0
USP4	7375	broad.mit.edu	37	3	49315767	49315767	+	Missense_Mutation	SNP	C	G	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr3:49315767C>G	uc003cwq.2	-	21	2930	c.2851G>C	c.(2851-2853)Ggc>Cgc	p.G951R	C3orf62_uc003cwn.2_5'Flank|USP4_uc003cwp.2_Missense_Mutation_p.G681R|USP4_uc003cwr.2_Missense_Mutation_p.G904R	NM_003363	NP_003354	Q13107	UBP4_HUMAN	Homo sapiens ubiquitin specific peptidase 4 (proto-oncogene) (USP4), transcript variant 1, mRNA.	951					negative regulation of protein ubiquitination|protein deubiquitination|protein localization at cell surface|regulation of protein stability|ubiquitin-dependent protein catabolic process	lysosome|nucleus	adenosine receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121)		OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05)		TCCCCAAAGCCCTGCTGAGAG	0.507000														108			5		0	0	0.000602214	0	0
DNAH5	1767	broad.mit.edu	37	5	13931263	13931263	+	Missense_Mutation	SNP	G	C	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr5:13931263G>C	uc003jfd.2	-	1	190	c.148C>G	c.(148-150)Ctg>Gtg	p.L50V	DNAH5_uc003jfe.1_Non-coding_Transcript	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	50	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.D49N(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GTTTTGTTCAGGTCCAAACAG	0.468000									Kartagener syndrome					96			6		0	0	3.59834e-05	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	T	T	rs121913377		TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368000	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome					66			9		0	0	0.000673444	0	0
KRTAP13-2	337959	broad.mit.edu	37	21	31744193	31744193	+	Silent	SNP	T	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr21:31744193T>A	uc002ynz.4	-	0	365	c.339A>T	c.(337-339)ggA>ggT	p.G113G		NM_181621	NP_853652	Q52LG2	KR132_HUMAN	Homo sapiens keratin associated protein 13-2 (KRTAP13-2), nuclear gene encoding mitochondrial protein, mRNA.	113						intermediate filament				endometrium(1)|kidney(1)|lung(14)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	21						AGCTCCTCGATCCATAGCCCA	0.582000														68			14		0	0	0.000219431	0	0
NMT2	9397	broad.mit.edu	37	10	15154795	15154795	+	Splice_Site	SNP	C	G	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr10:15154795C>G	uc001inz.1	-	10	1422	c.1338_splice	c.e10+1	p.S446_splice	NMT2_uc001ioa.1_Splice_Site_p.S433_splice|NMT2_uc010qbz.1_Splice_Site_p.S258_splice	NM_004808	NP_004799	O60551	NMT2_HUMAN	Homo sapiens N-myristoyltransferase 2 (NMT2), mRNA.	446					N-terminal protein myristoylation|protein lipoylation	Golgi apparatus|plasma membrane	glycylpeptide N-tetradecanoyltransferase activity			breast(3)|endometrium(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(3)	21						AGTGGCTTACCGATTTAGCCA	0.502000														75			5		0	0	0.000157383	0	0
CHIT1	1118	broad.mit.edu	37	1	203191393	203191393	+	Silent	SNP	C	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:203191393C>A	uc001gzn.2	-	6	762	c.666G>T	c.(664-666)acG>acT	p.T222T	CHIT1_uc001gzm.1_Non-coding_Transcript|CHIT1_uc009xal.1_Silent_p.T13T|CHIT1_uc009xam.1_Non-coding_Transcript|CHIT1_uc009xan.1_Non-coding_Transcript|CHIT1_uc001gzo.2_Silent_p.T213T	NM_003465	NP_003456	Q13231	CHIT1_HUMAN	Homo sapiens chitinase 1 (chitotriosidase) (CHIT1), transcript variant 1, mRNA.	222					chitin catabolic process|immune response|response to bacterium	extracellular space|lysosome	cation binding|chitin binding|endochitinase activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|stomach(2)	27						TGTTATGTCCCGTGACCTTCT	0.562000														58			6		3.59834e-05	0.000594959	3.59834e-05	1	0
GDA	9615	broad.mit.edu	37	9	74817503	74817503	+	Missense_Mutation	SNP	G	C	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr9:74817503G>C	uc004air.3	+	2	438	c.229G>C	c.(229-231)Ggg>Cgg	p.G77R	GDA_uc011lse.2_Missense_Mutation_p.G3R|GDA_uc004aiq.3_Missense_Mutation_p.G77R|GDA_uc010mow.2_Non-coding_Transcript|GDA_uc011lsf.2_Missense_Mutation_p.G3R|GDA_uc004ais.3_Missense_Mutation_p.G35R|GDA_uc004ait.1_Missense_Mutation_p.G3R	NM_001242505	NP_001229434	Q9Y2T3	GUAD_HUMAN	Homo sapiens guanine deaminase (GDA), transcript variant 1, mRNA.	77					nervous system development|purine base metabolic process|purine nucleotide catabolic process	cytosol	guanine deaminase activity|zinc ion binding			central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(20)|ovary(2)|skin(2)|urinary_tract(1)	32		Myeloproliferative disorder(762;0.0122)		Lung(182;0.0583)		CTTCATGCCTGGGCTGGTTGA	0.393000														87			5		0	0	0.000157383	0	0
SPOPL	339745	broad.mit.edu	37	2	139316692	139316692	+	Missense_Mutation	SNP	G	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr2:139316692G>T	uc002tvh.3	+	5	981	c.581G>T	c.(580-582)tGg>tTg	p.W194L		NM_001001664	NP_001001664	Q6IQ16	SPOPL_HUMAN	Homo sapiens speckle-type POZ protein-like (SPOPL), mRNA.	194						nucleus				breast(2)|cervix(2)|endometrium(2)|large_intestine(2)|lung(11)|skin(2)	21				BRCA - Breast invasive adenocarcinoma(221;0.0296)		GGTAATCTCTGGGAAAACACA	0.383000														119			7		0.000274275	0.00385584	0.000274275	1	0
F5	2153	broad.mit.edu	37	1	169555508	169555508	+	Missense_Mutation	SNP	C	G	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:169555508C>G	uc001ggg.1	-	0	262	c.117G>C	c.(115-117)caG>caC	p.Q39H	F5_uc010plr.1_Non-coding_Transcript	NM_000130	NP_000121	P12259	FA5_HUMAN	Homo sapiens coagulation factor V (proaccelerin, labile factor) (F5), mRNA.	39	F5/8 type A 1.|Plastocyanin-like 1.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	AACTGATGCCCTGAGCAGCCA	0.572000														46			4		0	0	0.00024832	0	0
ZFAT	57623	broad.mit.edu	37	8	135600607	135600607	+	Silent	SNP	G	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr8:135600607G>A	uc003yup.3	-	8	2781	c.2595C>T	c.(2593-2595)ctC>ctT	p.L865L	ZFAT_uc003yun.3_Silent_p.L853L|ZFAT_uc003yuo.3_Silent_p.L853L|ZFAT_uc010meh.3_Silent_p.L853L|ZFAT_uc010mej.3_Silent_p.L803L|ZFAT_uc010mei.3_Non-coding_Transcript|ZFAT_uc003yuq.3_Silent_p.L853L	NM_020863	NP_001161055	Q9P243	ZFAT_HUMAN	Homo sapiens zinc finger and AT hook domain containing (ZFAT), transcript variant 1, mRNA.	865					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			CCCTCCTCCCGAGAACCTCAG	0.453000														11			4		0	0	0.000602214	0	0
MIIP	60672	broad.mit.edu	37	1	12089197	12089197	+	Splice_Site	SNP	G	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:12089197G>A	uc001ato.2	+	5	1049	c.656_splice	c.e5+1	p.E219_splice		NM_021933	NP_068752	Q5JXC2	MIIP_HUMAN	Homo sapiens migration and invasion inhibitory protein (MIIP), mRNA.	219										autonomic_ganglia(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(1)	15						CAGCCATCCTGAGTGAGCAGG	0.652000														46			6		0	0	0.000157383	0	0
C12orf40	283461	broad.mit.edu	37	12	40076498	40076498	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr12:40076498G>A	uc001rmc.3	+	7	939	c.772G>A	c.(772-774)Gac>Aac	p.D258N	C12orf40_uc009zjv.1_Non-coding_Transcript	NM_001031748	NP_001026918	Q86WS4	CL040_HUMAN	Homo sapiens chromosome 12 open reading frame 40 (C12orf40), mRNA.	258										breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2)	38						AAGACAGTCAGACTACATTAC	0.353000														80			14		0	0	0.000422831	0	0
MMP12	4321	broad.mit.edu	37	11	102733867	102733867	+	Silent	SNP	G	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr11:102733867G>T	uc001phk.3	-	10	1471	c.1374C>A	c.(1372-1374)acC>acA	p.T458T		NM_002426	NP_002417	P39900	MMP12_HUMAN	Homo sapiens matrix metallopeptidase 12 (macrophage elastase) (MMP12), mRNA.	459	Hemopexin-like 4.				positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.014)	Acetohydroxamic Acid(DB00551)	TCAGTGTTTTGGTGATACGTT	0.299000														155			8		2.80697e-09	5.46852e-08	6.40141e-05	1	0
KLHL18	23276	broad.mit.edu	37	3	47376274	47376274	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr3:47376274G>A	uc003crd.3	+	5	989	c.863G>A	c.(862-864)gGa>gAa	p.G288E	KLHL18_uc003crc.2_Missense_Mutation_p.G288E|KLHL18_uc011bav.2_Missense_Mutation_p.G176E|KLHL18_uc010hjq.2_Missense_Mutation_p.G139E	NM_025010	NP_079286	O94889	KLH18_HUMAN	Homo sapiens kelch-like 18 (Drosophila) (KLHL18), mRNA.	288										endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	21		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00645)|Kidney(197;0.00741)		TCCATCGCTGGACTTATCTAC	0.587000														27			8		0	0	0.000442599	0	0
KIF20A	10112	broad.mit.edu	37	5	137521267	137521267	+	Missense_Mutation	SNP	C	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr5:137521267C>A	uc003lcj.3	+	15	2489	c.1993C>A	c.(1993-1995)Cat>Aat	p.H665N	KIF20A_uc011cyo.2_Missense_Mutation_p.H647N	NM_005733	NP_005724	O95235	KI20A_HUMAN	Homo sapiens kinesin family member 20A (KIF20A), mRNA.	665					M phase of mitotic cell cycle|cytokinesis|microtubule-based movement|protein transport|vesicle-mediated transport	Golgi apparatus|microtubule|nucleoplasm	ATP binding|microtubule motor activity|protein binding|transporter activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|liver(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(1)	27			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			GTCAGTGGCCCATCAGCAATC	0.512000														114			8		0.000274275	0.00385584	0.000274275	1	0
MACC1	346389	broad.mit.edu	37	7	20199780	20199780	+	Nonsense_Mutation	SNP	C	T	T	rs140929570	byFrequency	TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr7:20199780C>T	uc003sus.4	-	4	513	c.204G>A	c.(202-204)tgG>tgA	p.W68*	MACC1_uc010kug.3_Nonsense_Mutation_p.W68*	NM_182762	NP_877439	Q6ZN28	MACC1_HUMAN	Homo sapiens metastasis associated in colon cancer 1 (MACC1), mRNA.	68					positive regulation of cell division|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	growth factor activity			endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1)	39						ACAGTTGATTCCAGAATGGAT	0.378000														63			14		0	0	0.000566183	0	0
ARMCX5	64860	broad.mit.edu	37	X	101858161	101858161	+	Silent	SNP	C	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chrX:101858161C>A	uc022cbb.1	+	0	1092	c.1092C>A	c.(1090-1092)ccC>ccA	p.P364P	ARMCX5_uc004ejg.3_Silent_p.P364P|ARMCX5_uc022caw.1_Silent_p.P364P|ARMCX5_uc022cax.1_Silent_p.P364P|ARMCX5-GPRASP2_uc022cay.1_Intron|ARMCX5_uc022caz.1_Silent_p.P364P|ARMCX5_uc022cba.1_Silent_p.P364P|ARMCX5_uc004ejh.3_Silent_p.P364P	NM_022838	NP_073749	Q6P1M9	ARMX5_HUMAN	Homo sapiens armadillo repeat containing, X-linked 5 (ARMCX5), transcript variant 2, mRNA.	364							binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	22						TCAATAATCCCAATGTTAAAG	0.368000														225			9		4.3838e-07	8.19794e-06	0.000151284	1	0
ZNF254	9534	broad.mit.edu	37	19	24309885	24309885	+	Silent	SNP	G	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr19:24309885G>A	uc002nru.3	+	3	1217	c.1083G>A	c.(1081-1083)caG>caA	p.Q361Q	ZNF254_uc010xrk.2_Silent_p.Q276Q	NM_203282	NP_975011	O75437	ZN254_HUMAN	Homo sapiens zinc finger protein 254 (ZNF254), mRNA.	361					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding						all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)				CTTTTAGCCAGTCCTCAACCC	0.393000														115			5		0	0	0.000602214	0	0
CNGA3	1261	broad.mit.edu	37	2	99013320	99013320	+	Missense_Mutation	SNP	C	A	A	rs150153987		TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr2:99013320C>A	uc010fij.3	+	7	1840	c.1699C>A	c.(1699-1701)Cgc>Agc	p.R567S	CNGA3_uc002syt.3_Missense_Mutation_p.R563S|CNGA3_uc002syu.3_Missense_Mutation_p.R545S			Q16281	CNGA3_HUMAN	Homo sapiens cyclic nucleotide gated channel alpha 3 (CNGA3), transcript variant 1, mRNA.	563					signal transduction|visual perception	integral to membrane	cGMP binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						GTCGGGGAACCGCAGGACGGC	0.582000														139			6		0.000442599	0.00580232	0.000442599	1	0
KIF21B	23046	broad.mit.edu	37	1	200960210	200960210	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:200960210G>A	uc001gvs.2	-	17	2839	c.2522C>T	c.(2521-2523)cCa>cTa	p.P841L	KIF21B_uc009wzl.2_Missense_Mutation_p.P841L|KIF21B_uc001gvr.2_Missense_Mutation_p.P841L|KIF21B_uc010ppn.2_Missense_Mutation_p.P841L	NM_001252100	NP_001239029	O75037	KI21B_HUMAN	Homo sapiens kinesin family member 21B (KIF21B), transcript variant 1, mRNA.	841					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						CAGCATGGGTGGCTTTAGTCC	0.642000														71			6		0	0	0.000442599	0	0
OVCH1	341350	broad.mit.edu	37	12	29644125	29644125	+	Splice_Site	SNP	C	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr12:29644125C>T	uc001rix.1	-	5	455	c.455_splice	c.e5-1	p.G152_splice		NM_183378	NP_899234	Q7RTY7	OVCH1_HUMAN	Homo sapiens ovochymase 1 (OVCH1), mRNA.	152	Peptidase S1 1.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					AACAGCATTTCCTGAGAAAAC	0.388000														68			8		0	0	0.000274275	0	0
LAMA2	3908	broad.mit.edu	37	6	129637032	129637032	+	Silent	SNP	C	T	T	rs138702650		TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr6:129637032C>T	uc021zfb.1	+	25	3966	c.3861C>T	c.(3859-3861)atC>atT	p.I1287I	LAMA2_uc003qbn.3_Silent_p.I1287I|LAMA2_uc003qbo.3_Silent_p.I1287I	NM_000426	NP_000417	P24043	LAMA2_HUMAN	Homo sapiens laminin, alpha 2 (LAMA2), transcript variant 1, mRNA.	1287	Laminin IV type A 2.				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	p.I1287I(2)		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)		CTAGAATTATCGTCAGGCATA	0.418000														119			28		0	0	0.000279167	0	0
TCP10	6953	broad.mit.edu	37	6	167789547	167789547	+	Missense_Mutation	SNP	G	C	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr6:167789547G>C	uc003qvv.1	-	5	807	c.595C>G	c.(595-597)Cga>Gga	p.R199G	TCP10_uc003qvu.3_Missense_Mutation_p.R199G|TCP10_uc003qvw.3_3'UTR	NM_004610	NP_004601	Q12799	TCP10_HUMAN	Homo sapiens t-complex 10 homolog (mouse) (TCP10), mRNA.	226						cytosol				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(6)	18		Breast(66;1.53e-05)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)|GBM - Glioblastoma multiforme(31;0.0386)		TGCGGACTTCGGGAAGATGGA	0.612000														40			3		0	0	3.59834e-05	0	0
LGR5	8549	broad.mit.edu	37	12	71972624	71972624	+	Missense_Mutation	SNP	G	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr12:71972624G>T	uc001swl.3	+	14	1369	c.1321G>T	c.(1321-1323)Ggg>Tgg	p.G441W	LGR5_uc001swm.3_Missense_Mutation_p.G417W|LGR5_uc021rar.1_Missense_Mutation_p.G369W|LGR5_uc001swn.1_Non-coding_Transcript	NM_003667	NP_003658	O75473	LGR5_HUMAN	Homo sapiens leucine-rich repeat containing G protein-coupled receptor 5 (LGR5), mRNA.	441						integral to plasma membrane	protein-hormone receptor activity		NUP107/LGR5(2)	endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						TCCTATAACTGGGTTACATGG	0.358000														333			13		7.07596e-05	0.00113768	0.00074312	1	0
ABLIM2	84448	broad.mit.edu	37	4	8009897	8009897	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr4:8009897C>T	uc003gko.3	-	14	1548	c.1405G>A	c.(1405-1407)Gat>Aat	p.D469N	ABLIM2_uc003gkk.3_Missense_Mutation_p.D133N|ABLIM2_uc003gkl.3_Missense_Mutation_p.D197N|ABLIM2_uc003gkm.4_Missense_Mutation_p.D417N|ABLIM2_uc003gkp.3_Missense_Mutation_p.D428N|ABLIM2_uc003gkq.3_Missense_Mutation_p.D469N|ABLIM2_uc003gkr.3_Missense_Mutation_p.D418N|ABLIM2_uc003gkj.4_Missense_Mutation_p.D503N|ABLIM2_uc003gks.3_Missense_Mutation_p.D429N	NM_001130084	NP_001123556	Q6H8Q1	ABLM2_HUMAN	Homo sapiens actin binding LIM protein family, member 2 (ABLIM2), transcript variant 2, mRNA.	469					axon guidance|cytoskeleton organization	actin cytoskeleton|cytoplasm|intermediate filament cytoskeleton|nucleus	actin binding|zinc ion binding			NS(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|pancreas(3)|prostate(2)|urinary_tract(1)	25						GTGTCTGCATCCCCCTTGAGC	0.542000														71			11		0	0	0.000673444	0	0
SLC4A7	9497	broad.mit.edu	37	3	27427478	27427478	+	Missense_Mutation	SNP	G	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr3:27427478G>T	uc011aww.2	-	22	3618	c.3397C>A	c.(3397-3399)Ctg>Atg	p.L1133M	SLC4A7_uc011awx.2_Missense_Mutation_p.L1120M|SLC4A7_uc021wun.1_Missense_Mutation_p.L1009M|SLC4A7_uc021wuo.1_Non-coding_Transcript|SLC4A7_uc011awy.2_Missense_Mutation_p.L1116M|SLC4A7_uc011awz.2_Non-coding_Transcript|SLC4A7_uc011axa.2_Missense_Mutation_p.L1005M|SLC4A7_uc011axb.2_Missense_Mutation_p.L1120M|SLC4A7_uc021wul.1_Non-coding_Transcript|SLC4A7_uc011awu.2_Non-coding_Transcript|SLC4A7_uc011awv.2_Non-coding_Transcript|SLC4A7_uc021wum.1_Non-coding_Transcript|SLC4A7_uc003cdu.4_Missense_Mutation_p.L1005M|SLC4A7_uc010hfl.3_Missense_Mutation_p.L674M|SLC4A7_uc003cdv.3_Missense_Mutation_p.L1124M|SLC4A7_uc003cdw.3_Missense_Mutation_p.L1000M	NM_003615	NP_003606	Q9Y6M7	S4A7_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 7 (SLC4A7), mRNA.	1124						apical plasma membrane|basolateral plasma membrane|integral to membrane|stereocilium	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1)	38						GTGAAACACAGGTCCATGAGT	0.343000														233			9		9.7654e-05	0.00153481	9.7654e-05	1	0
THADA	63892	broad.mit.edu	37	2	43808930	43808930	+	Missense_Mutation	SNP	C	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr2:43808930C>A	uc002rsw.4	-	7	1023	c.671G>T	c.(670-672)tGg>tTg	p.W224L	THADA_uc002rsx.4_Missense_Mutation_p.W224L|THADA_uc002rsy.4_Non-coding_Transcript|THADA_uc002rsz.3_5'UTR|THADA_uc002rta.2_5'UTR|THADA_uc002rtb.1_Missense_Mutation_p.W224L|THADA_uc002rtc.4_Missense_Mutation_p.W224L|THADA_uc002rtd.3_Missense_Mutation_p.W224L	NM_001083953	NP_071348	Q6YHU6	THADA_HUMAN	Homo sapiens thyroid adenoma associated (THADA), transcript variant 3, mRNA.	224							binding			breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				CATATTTTGCCATATGGGAGA	0.323000														456			15		8.34094e-07	1.53114e-05	0.000132079	1	0
PKD2L2	27039	broad.mit.edu	37	5	137271551	137271551	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr5:137271551G>A	uc003lby.3	+	12	1793	c.1737G>A	c.(1735-1737)atG>atA	p.M579I	PKD2L2_uc003lbw.1_Missense_Mutation_p.M579I|PKD2L2_uc003lbx.3_Missense_Mutation_p.M478I|PKD2L2_uc011cyi.1_Missense_Mutation_p.M187I	NM_014386	NP_055201	Q9NZM6	PK2L2_HUMAN	Homo sapiens polycystic kidney disease 2-like 2 (PKD2L2), mRNA.	579						integral to membrane	calcium ion binding|ion channel activity			breast(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	28			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			ATTATTCTATGGAAATTCAAG	0.388000														144			30		0	0	0.000191422	0	0
LOC440563	440563	broad.mit.edu	37	1	13183833	13183833	+	Missense_Mutation	SNP	C	T	T	rs115597766	by1000genomes	TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:13183833C>T	uc010obg.2	-	1	283	c.40G>A	c.(40-42)Gtg>Atg	p.V14M		NM_001136561	NP_001130033	B2RXH8	B2RXH8_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein C-like (LOC440563), mRNA.	14						ribonucleoprotein complex	nucleic acid binding|nucleotide binding										CGGGAGTTCACGGAGTGAGGA	0.468000														70			15		0	0	0.000229342	0	0
KNTC1	9735	broad.mit.edu	37	12	123022896	123022896	+	Silent	SNP	G	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr12:123022896G>T	uc001ucv.3	+	3	424	c.261G>T	c.(259-261)gtG>gtT	p.V87V	KNTC1_uc010taf.2_Silent_p.V87V	NM_014708	NP_055523	P50748	KNTC1_HUMAN	Homo sapiens kinetochore associated 1 (KNTC1), mRNA.	87					cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole	protein binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		ATACTGAAGTGGATGTAGTTG	0.318000														38			5		8.12818e-05	0.00127893	8.12818e-05	1	0
NPSR1	387129	broad.mit.edu	37	7	34889216	34889216	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr7:34889216G>A	uc003teh.1	+	9	1293	c.1165G>A	c.(1165-1167)Gag>Aag	p.E389K	NPSR1-AS1_uc010kwq.2_Intron|NPSR1-AS1_uc011kaq.1_Intron|NPSR1_uc003teg.1_Silent_p.E355E|NPSR1_uc010kwt.1_Silent_p.E202E|NPSR1_uc010kwu.1_Silent_p.E145E|NPSR1_uc010kwv.1_Silent_p.E289E|NPSR1_uc003tei.1_Intron|NPSR1_uc010kww.1_Intron|NPSR1_uc011kar.1_Intron	NM_207173	NP_997056	Q6W5P4	NPSR1_HUMAN	Homo sapiens neuropeptide S receptor 1 (NPSR1), transcript variant 2, mRNA.	0						cytoplasm|integral to membrane|plasma membrane	vasopressin receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7)	31					Halothane(DB01159)	CGTTCCGGGAGAGAACTGAGA	0.488000														132			14		0	0	0.000422831	0	0
ZNF468	90333	broad.mit.edu	37	19	53352429	53352429	+	Missense_Mutation	SNP	G	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr19:53352429G>T	uc002qaf.3	-	2	204	c.53C>A	c.(52-54)tCt>tAt	p.S18Y	ZNF468_uc002qae.3_5'UTR	NM_001008801	NP_954583	Q5VIY5	ZN468_HUMAN	Homo sapiens zinc finger protein 468 (ZNF468), transcript variant 2, mRNA.	18	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.F17F(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(3)|urinary_tract(1)	23				GBM - Glioblastoma multiforme(134;0.0358)		CTCCTCCTGAGAGAATTCTAT	0.443000														295			13		3.52763e-06	6.28593e-05	0.000566183	1	0
OR6C6	283365	broad.mit.edu	37	12	55688833	55688833	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr12:55688833G>A	uc010sph.2	-	0	184	c.184C>T	c.(184-186)Cgt>Tgt	p.R62C		NM_001005493	NP_001005493	A6NF89	OR6C6_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 6 (OR6C6), mRNA.	62					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L61I(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						GAGAAATTACGGAGAAAGAAA	0.388000														32			4		0	0	0.00024832	0	0
SGSH	6448	broad.mit.edu	37	17	78184800	78184800	+	Silent	SNP	G	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr17:78184800G>A	uc002jxz.4	-	7	1047	c.960C>T	c.(958-960)ccC>ccT	p.P320P	SGSH_uc002jya.4_Silent_p.P117P|SGSH_uc002jxy.2_3'UTR	NM_000199	NP_000190	P51688	SPHM_HUMAN	Homo sapiens N-sulfoglucosamine sulfohydrolase (SGSH), mRNA.	320					proteoglycan metabolic process	lysosome	N-sulfoglucosamine sulfohydrolase activity|metal ion binding|sulfuric ester hydrolase activity			central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			CCAAGATGGTGGGCGTGAGGT	0.652000														43			4		0	0	0.00024832	0	0
SPATA6	54558	broad.mit.edu	37	1	48865077	48865077	+	Silent	SNP	C	G	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:48865077C>G	uc001crr.2	-	6	922	c.726G>C	c.(724-726)ctG>ctC	p.L242L	SPATA6_uc001crs.2_Silent_p.L242L|SPATA6_uc010omv.2_Silent_p.L228L	NM_019073	NP_061946	Q9NWH7	SPAT6_HUMAN	Homo sapiens spermatogenesis associated 6 (SPATA6), mRNA.	242					cell differentiation|multicellular organismal development|spermatogenesis	extracellular region				breast(1)|endometrium(2)|large_intestine(6)|lung(7)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	21						CATAGGGTCCCAGATTTAAAT	0.398000														36			4		0	0	0.00024832	0	0
TSC1	7248	broad.mit.edu	37	9	135786955	135786955	+	Splice_Site	SNP	C	G	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr9:135786955C>G	uc004cca.2	-	10	1148	c.914_splice	c.e10-1	p.G305_splice	TSC1_uc004ccb.3_Splice_Site_p.G305_splice|TSC1_uc011mcq.1_Splice_Site_p.G254_splice|TSC1_uc011mcr.2_Splice_Site_p.G184_splice|TSC1_uc011mcs.1_Splice_Site_p.G184_splice|TSC1_uc004ccc.1_Splice_Site_p.G305_splice|TSC1_uc004cce.1_Splice_Site_p.G305_splice	NM_000368	NP_000359	Q92574	TSC1_HUMAN	Homo sapiens tuberous sclerosis 1 (TSC1), transcript variant 1, mRNA.	305					activation of Rho GTPase activity|cell cycle arrest|cell-matrix adhesion|insulin receptor signaling pathway|negative regulation of TOR signaling cascade|negative regulation of cell proliferation|negative regulation of protein ubiquitination|negative regulation of translation|positive regulation of focal adhesion assembly|rRNA export from nucleus|regulation of phosphoprotein phosphatase activity|regulation of stress fiber assembly	TSC1-TSC2 complex|cell cortex|lamellipodium|membrane	chaperone binding|protein N-terminus binding	p.?(1)		NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	65				OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)		AGTAGCACACCCTAAAATGGA	0.408000			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis					75			4		0	0	3.59834e-05	0	0
RD3	343035	broad.mit.edu	37	1	211652404	211652404	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:211652404C>T	uc001him.2	-	2	1726	c.562G>A	c.(562-564)Gaa>Aaa	p.E188K	RD3_uc001hin.2_Missense_Mutation_p.E188K|RD3_uc009xda.2_Non-coding_Transcript	NM_183059	NP_898882	Q7Z3Z2	RD3_HUMAN	Homo sapiens retinal degeneration 3 (RD3), transcript variant 1, mRNA.	188					response to stimulus|visual perception					central_nervous_system(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	10				OV - Ovarian serous cystadenocarcinoma(81;0.00284)|all cancers(67;0.0279)|Epithelial(68;0.0689)		GCCCGGAATTCGGGCATGCTC	0.706000														18			5		0	0	3.59834e-05	0	0
JPH4	84502	broad.mit.edu	37	14	24040151	24040151	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr14:24040151T>C	uc001wkq.2	-	5	2707	c.1789A>G	c.(1789-1791)Agg>Ggg	p.R597G	AP1G2_uc001wkl.2_5'Flank|AP1G2_uc001wkn.2_5'Flank|AP1G2_uc010tnp.1_5'Flank|AP1G2_uc010akt.3_5'Flank|JPH4_uc010tnr.1_Missense_Mutation_p.R262G|JPH4_uc001wkr.2_Missense_Mutation_p.R597G	NM_032452	NP_115828	Q96JJ6	JPH4_HUMAN	Homo sapiens junctophilin 4 (JPH4), transcript variant 1, mRNA.	597					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane				endometrium(1)|large_intestine(2)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00654)		TGGGCAGGCCTCTCGGTTGCA	0.657000														33			4		0	0	0.00024832	0	0
SPTB	6710	broad.mit.edu	37	14	65239540	65239540	+	Missense_Mutation	SNP	A	C	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr14:65239540A>C	uc001xht.3	-	24	5362	c.5311T>G	c.(5311-5313)Tgg>Ggg	p.W1771G	SPTB_uc001xhr.3_Missense_Mutation_p.W1771G|SPTB_uc001xhs.3_Missense_Mutation_p.W1771G|SPTB_uc001xhu.3_Missense_Mutation_p.W1771G|SPTB_uc010aqi.3_Missense_Mutation_p.W432G	NM_000347	NP_000338	P11277	SPTB1_HUMAN	Homo sapiens spectrin, beta, erythrocytic (SPTB), transcript variant 2, mRNA.	1771					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		CCGTCCTTCCACTCGGCGATG	0.637000														53			3		0	0	6.4e-05	0	0
CD33	945	broad.mit.edu	37	19	51738425	51738425	+	Silent	SNP	C	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr19:51738425C>T	uc002pwa.2	+	4	799	c.759C>T	c.(757-759)acC>acT	p.T253T	CD33_uc010eos.1_Silent_p.T253T|CD33_uc010eot.1_Silent_p.T126T|CD33_uc010eou.1_Non-coding_Transcript	NM_001772	NP_001763	P20138	CD33_HUMAN	Homo sapiens CD33 molecule (CD33), transcript variant 1, mRNA.	253					cell adhesion|cell-cell signaling|negative regulation of cell proliferation	external side of plasma membrane|integral to plasma membrane	receptor activity|sugar binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(15)|skin(1)|stomach(1)	24		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468)	Gemtuzumab ozogamicin(DB00056)	AACAAGAGACCAGAGCAGGAG	0.483000														92			5		0	0	3.59834e-05	0	0
CASZ1	54897	broad.mit.edu	37	1	10705124	10705124	+	Missense_Mutation	SNP	C	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:10705124C>A	uc001aro.3	-	17	4038	c.3718G>T	c.(3718-3720)Ggg>Tgg	p.G1240W		NM_001079843	NP_001073312	Q86V15	CASZ1_HUMAN	Homo sapiens castor zinc finger 1 (CASZ1), transcript variant 1, mRNA.	1240					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		TGGTAGTGCCCACGCATTCGG	0.632000														53			6		0.000157383	0.00233702	0.000157383	1	0
ATP13A4	84239	broad.mit.edu	37	3	193188694	193188694	+	Silent	SNP	G	T	T	rs141926131		TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr3:193188694G>T	uc003ftd.3	-	8	1005	c.897C>A	c.(895-897)gcC>gcA	p.A299A	ATP13A4_uc003fte.1_Silent_p.A299A|ATP13A4_uc011bsr.1_5'UTR|ATP13A4_uc003ftf.4_Silent_p.A5A	NM_032279	NP_115655	Q4VNC1	AT134_HUMAN	Homo sapiens ATPase type 13A4 (ATP13A4), mRNA.	299					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		CAATCAGAACGGCATCACATG	0.517000														117			11		0.000673444	0.00850193	0.000673444	1	0
CPE	1363	broad.mit.edu	37	4	166388881	166388881	+	Silent	SNP	C	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr4:166388881C>T	uc003irg.4	+	2	823	c.546C>T	c.(544-546)gcC>gcT	p.A182A		NM_001873	NP_001864	P16870	CBPE_HUMAN	Homo sapiens carboxypeptidase E (CPE), mRNA.	182					cardiac left ventricle morphogenesis|neuropeptide signaling pathway|protein modification process	extracellular region|nucleus|plasma membrane	metallocarboxypeptidase activity|protein binding|zinc ion binding			endometrium(2)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	26	all_hematologic(180;0.221)	Prostate(90;0.0962)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.137)	Glucagon recombinant(DB00040)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GAAGCAATGCCCAGGGAATAG	0.378000														43			8		0	0	0.000157383	0	0
HPX	3263	broad.mit.edu	37	11	6458755	6458755	+	Silent	SNP	G	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr11:6458755G>A	uc001mdg.2	-	5	679	c.618C>T	c.(616-618)ttC>ttT	p.F206F	HPX_uc009yfc.2_Non-coding_Transcript	NM_000613	NP_000604	P02790	HEMO_HUMAN	Homo sapiens hemopexin (HPX), mRNA.	206	Hemopexin-like 3.				cellular iron ion homeostasis|interspecies interaction between organisms	extracellular space	heme transporter activity|metal ion binding|protein binding			endometrium(1)|large_intestine(2)|lung(11)|prostate(1)	15		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;5.46e-08)|BRCA - Breast invasive adenocarcinoma(625;0.19)		CGAAGCGCAGGAATTGGTTAC	0.612000														48			7		0	0	8.12818e-05	0	0
MYCBP2	23077	broad.mit.edu	37	13	77742671	77742671	+	Silent	SNP	G	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr13:77742671G>T	uc021rks.1	-	39	6273	c.6006C>A	c.(6004-6006)acC>acA	p.T2002T	MYCBP2_uc010aev.3_Silent_p.T1368T	NM_015057	NP_055872	O75592	MYCB2_HUMAN	Homo sapiens MYC binding protein 2 (MYCBP2), mRNA.	1964					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		GGTTTCCTGTGGTGCTATCTG	0.498000														104			8		1.06961e-07	2.04675e-06	0.000157383	1	0
FRYL	285527	broad.mit.edu	37	4	48588675	48588675	+	Missense_Mutation	SNP	C	G	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr4:48588675C>G	uc003gyh.1	-	18	2316	c.1711G>C	c.(1711-1713)Ggt>Cgt	p.G571R	FRYL_uc003gyk.3_Missense_Mutation_p.G571R	NM_015030	NP_055845	O94915	FRYL_HUMAN	Homo sapiens FRY-like (FRYL), mRNA.	571					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						CTGCTCATACCGTCAGGAATC	0.338000														99			4		0	0	3.59834e-05	0	0
IQCH	64799	broad.mit.edu	37	15	67636434	67636434	+	Missense_Mutation	SNP	C	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr15:67636434C>A	uc002aqo.2	+	5	639	c.542C>A	c.(541-543)cCa>cAa	p.P181Q	IQCH_uc010ujv.2_Missense_Mutation_p.P13Q|IQCH_uc002aqn.2_Missense_Mutation_p.P8Q|IQCH_uc002aqp.2_5'UTR|IQCH_uc002aqq.2_Intron	NM_001031715	NP_001026885	Q86VS3	IQCH_HUMAN	Homo sapiens IQ motif containing H (IQCH), transcript variant 1, mRNA.	181										NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1)	33				Colorectal(3;0.0856)		GGGCTGATTCCACCAACAGCA	0.388000														90			6		0.000157383	0.00233702	0.000157383	1	0
C15orf33	196951	broad.mit.edu	37	15	49860534	49860534	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr15:49860534C>T	uc001zxl.2	-	8	949	c.655G>A	c.(655-657)Gaa>Aaa	p.E219K	C15orf33_uc001zxm.3_Intron	NM_152647	NP_689860	Q96M60	CO033_HUMAN	Homo sapiens chromosome 15 open reading frame 33 (C15orf33), mRNA.	219										endometrium(2)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	25		all_lung(180;0.00187)		all cancers(107;3.45e-08)|GBM - Glioblastoma multiforme(94;0.000124)		TCTTGGTTTTCTCTGTCAGGC	0.308000														38			6		0	0	0.000157383	0	0
WDR46	9277	broad.mit.edu	37	6	33255992	33255992	+	Missense_Mutation	SNP	C	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr6:33255992C>A	uc003ods.3	-	4	851	c.494G>T	c.(493-495)gGg>gTg	p.G165V	WDR46_uc011dra.2_Missense_Mutation_p.G111V|WDR46_uc010juo.1_Non-coding_Transcript|PFDN6_uc003odt.1_5'Flank|PFDN6_uc010jup.1_5'Flank|PFDN6_uc021ywk.1_5'Flank	NM_005452	NP_005443	O15213	WDR46_HUMAN	Homo sapiens WD repeat domain 46 (WDR46), transcript variant 1, mRNA.	165										NS(1)|breast(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)	20						TGTGTCTTCCCCATCCTCCCC	0.483000														277			12		1.49906e-05	0.000257286	0.000219431	1	0
RPGRIP1L	23322	broad.mit.edu	37	16	53672324	53672324	+	Splice_Site	SNP	C	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr16:53672324C>A	uc002ehp.3	-	20	3023	c.2959_splice	c.e20-1	p.E987_splice	RPGRIP1L_uc002eho.4_Intron|RPGRIP1L_uc010vgy.2_Splice_Site_p.E987_splice|RPGRIP1L_uc010cbx.3_Intron|RPGRIP1L_uc010vgz.1_Splice_Site_p.E987_splice	NM_015272	NP_056087	Q68CZ1	FTM_HUMAN	Homo sapiens RPGRIP1-like (RPGRIP1L), transcript variant 1, mRNA.	987					negative regulation of G-protein coupled receptor protein signaling pathway	cell-cell junction|centrosome|cilium axoneme|microtubule basal body	thromboxane A2 receptor binding			endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2)	46		all_cancers(37;0.0973)				GAGAAGTCTCCTTATATTAAT	0.333000														273			11		0.000219431	0.00323436	0.000219431	1	0
SLC22A25	387601	broad.mit.edu	37	11	62948217	62948217	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr11:62948217C>T	uc001nwr.1	-	5	985	c.985G>A	c.(985-987)Gag>Aag	p.E329K	SLC22A10_uc010rmo.1_Intron|SLC22A25_uc009yoq.1_Non-coding_Transcript|SLC22A25_uc001nws.1_Non-coding_Transcript|SLC22A25_uc001nwt.1_Missense_Mutation_p.E329K	NM_199352	NP_955384	Q6T423	S22AP_HUMAN	Homo sapiens solute carrier family 22, member 25 (SLC22A25), mRNA.	329					transmembrane transport	integral to membrane				NS(2)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|skin(7)	34						TGTGCTGCCTCCAGTTCTTGC	0.403000														54			8		0	0	0.000274275	0	0
ZNF518A	9849	broad.mit.edu	37	10	97919603	97919603	+	Missense_Mutation	SNP	C	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr10:97919603C>A	uc001klp.3	+	5	4381	c.3524C>A	c.(3523-3525)cCa>cAa	p.P1175Q	ZNF518A_uc001klo.1_Missense_Mutation_p.P645Q|ZNF518A_uc001klq.3_Missense_Mutation_p.P1175Q|ZNF518A_uc001klr.3_Missense_Mutation_p.P1175Q	NM_014803	NP_055618	Q6AHZ1	Z518A_HUMAN	Homo sapiens zinc finger protein 518A (ZNF518A), mRNA.	1175					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	24		Colorectal(252;0.0815)		Epithelial(162;4.23e-08)|all cancers(201;1.85e-06)		GACAACGTACCATCTAATCAG	0.368000														111			11		5.50884e-06	9.65634e-05	0.00010058	1	0
MEST	4232	broad.mit.edu	37	7	130138290	130138290	+	Silent	SNP	C	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr7:130138290C>A	uc003vqg.3	+	5	763	c.507C>A	c.(505-507)acC>acA	p.T169T	MEST_uc003vqc.3_Silent_p.T160T|MEST_uc003vqd.3_Silent_p.T160T|MEST_uc022alp.1_Silent_p.T160T|MEST_uc003vqf.3_Silent_p.T160T|MEST_uc011kph.2_Silent_p.T155T	NM_002402	NP_002393	Q5EB52	MEST_HUMAN	Homo sapiens mesoderm specific transcript homolog (mouse) (MEST), transcript variant 1, mRNA.	169					mesoderm development	endoplasmic reticulum membrane|integral to membrane	hydrolase activity|protein binding			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(2)	12	Melanoma(18;0.0435)					GTCGGCTTACCATAAAGAGTC	0.473000														355			14		1.15919e-05	0.000199688	0.000132079	1	0
U2SURP	23350	broad.mit.edu	37	3	142731154	142731154	+	Missense_Mutation	SNP	C	G	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr3:142731154C>G	uc003evh.1	+	2	280	c.181C>G	c.(181-183)Cgt>Ggt	p.R61G	U2SURP_uc003evi.1_5'UTR|U2SURP_uc011bnj.1_Missense_Mutation_p.R61G|U2SURP_uc003evj.1_Non-coding_Transcript|U2SURP_uc003evk.1_Missense_Mutation_p.R61G	NM_001080415	NP_001073884	O15042	SR140_HUMAN	Homo sapiens U2 snRNP-associated SURP domain containing (U2SURP), mRNA.	61					RNA processing	nucleus	RNA binding|nucleotide binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	31						TGAAAGTGCCCGTGAAAGCCT	0.388000														34			3		0	0	6.4e-05	0	0
FOXK2	3607	broad.mit.edu	37	17	80541916	80541916	+	Silent	SNP	G	C	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr17:80541916G>C	uc002kfn.3	+	5	1302	c.1131G>C	c.(1129-1131)gcG>gcC	p.A377A	FOXK2_uc002kfm.1_Silent_p.A377A|FOXK2_uc010diu.3_Intron	NM_004514	NP_004505	Q01167	FOXK2_HUMAN	Homo sapiens forkhead box K2 (FOXK2), mRNA.	377					embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|magnesium ion binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|urinary_tract(1)	17	Breast(20;0.00106)|all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.0371)|BRCA - Breast invasive adenocarcinoma(99;0.0415)			CCAATCACGCGGGAGTGCTGT	0.597000														33			4		0	0	3.59834e-05	0	0
PRX	57716	broad.mit.edu	37	19	40900148	40900148	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr19:40900148G>A	uc002onr.3	-	6	4380	c.4111C>T	c.(4111-4113)Cgg>Tgg	p.R1371W	PRX_uc002onq.3_Missense_Mutation_p.R1232W|PRX_uc002ons.3_3'UTR	NM_181882	NP_870998	Q9BXM0	PRAX_HUMAN	Homo sapiens periaxin (PRX), transcript variant 2, mRNA.	1371					axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding	p.R1371R(2)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			ACCCGGCCCCGGCGACCCGAG	0.701000														33			5		0	0	3.59834e-05	0	0
RPAP1	26015	broad.mit.edu	37	15	41821679	41821679	+	Missense_Mutation	SNP	C	G	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr15:41821679C>G	uc001zod.3	-	8	1271	c.1147G>C	c.(1147-1149)Gag>Cag	p.E383Q		NM_015540	NP_056355	Q9BWH6	RPAP1_HUMAN	Homo sapiens RNA polymerase II associated protein 1 (RPAP1), mRNA.	383						nucleus	DNA binding|DNA-directed RNA polymerase activity			NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	45		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)		TCTGCCTCCTCTCCATGGTGG	0.562000														14			4		0	0	0.00024832	0	0
MSH4	4438	broad.mit.edu	37	1	76333261	76333261	+	Silent	SNP	G	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:76333261G>T	uc001dhd.2	+	8	1408	c.1293G>T	c.(1291-1293)gtG>gtT	p.V431V		NM_002440	NP_002431	O15457	MSH4_HUMAN	Homo sapiens mutS homolog 4 (E. coli) (MSH4), mRNA.	431					chiasma assembly|homologous chromosome segregation|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding			breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	47						TGGAACTTGTGGATCCTTTAA	0.303000								Mismatch excision repair (MMR)						102			6		0.000673444	0.00850193	0.000673444	1	0
DPY19L2	283417	broad.mit.edu	37	12	63974482	63974482	+	Silent	SNP	C	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr12:63974482C>T	uc001srp.1	-	18	2041	c.1860G>A	c.(1858-1860)caG>caA	p.Q620Q	DPY19L2_uc010sso.1_Silent_p.Q67Q	NM_173812	NP_776173	Q6NUT2	D19L2_HUMAN	Homo sapiens dpy-19-like 2 (C. elegans) (DPY19L2), mRNA.	620					multicellular organismal development|spermatid development	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45			GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)		AAAGTTCTTCCTGAGGCAAAT	0.338000														89			10		0	0	0.000151284	0	0
MAGI3	260425	broad.mit.edu	37	1	114225528	114225528	+	Missense_Mutation	SNP	A	C	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:114225528A>C	uc001edk.3	+	20	3519	c.3338A>C	c.(3337-3339)gAt>gCt	p.D1113A	MAGI3_uc001edi.4_3'UTR|MAGI3_uc010owm.2_3'UTR|MAGI3_uc001edj.3_3'UTR|MAGI3_uc009wgo.3_Non-coding_Transcript	NM_001142782	NP_001136254	Q5TCQ9	MAGI3_HUMAN	Homo sapiens membrane associated guanylate kinase, WW and PDZ domain containing 3 (MAGI3), transcript variant 1, mRNA.	1138	PDZ 6.				apoptosis|interspecies interaction between organisms|intracellular signal transduction	nucleus|tight junction	ATP binding|guanylate kinase activity|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GGTGATTGGGATATTAATAAT	0.328000														62			6		0	0	3.59834e-05	0	0
LTBP4	8425	broad.mit.edu	37	19	41128898	41128898	+	Silent	SNP	G	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr19:41128898G>T	uc002ooh.1	+	27	3726	c.3726G>T	c.(3724-3726)gcG>gcT	p.A1242A	LTBP4_uc002oog.1_Silent_p.A1205A|LTBP4_uc002ooi.1_Silent_p.A1175A|LTBP4_uc002ooj.1_Silent_p.A116A|LTBP4_uc002ook.1_Silent_p.A377A|LTBP4_uc002ool.1_Silent_p.A255A|LTBP4_uc010xvp.1_Intron	NM_001042544	NP_001036009	Q8N2S1	LTBP4_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 4 (LTBP4), transcript variant 1, mRNA.	1243					growth hormone secretion|multicellular organismal development|protein folding|regulation of cell differentiation|regulation of cell growth|regulation of proteolysis|regulation of transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|glycosaminoglycan binding|integrin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity			central_nervous_system(1)	1			Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GCTACCTGGCGCCCAGTGGAG	0.632000														26			4		0.000157383	0.00233702	0.000157383	1	0
CCL20	6364	broad.mit.edu	37	2	228680196	228680196	+	Nonsense_Mutation	SNP	G	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr2:228680196G>T	uc002vpl.2	+	1	173	c.103G>T	c.(103-105)Gga>Tga	p.G35*	CCL20_uc002vpm.2_Nonsense_Mutation_p.G34*	NM_004591	NP_004582	P78556	CCL20_HUMAN	Homo sapiens chemokine (C-C motif) ligand 20 (CCL20), transcript variant 1, mRNA.	35					cell-cell signaling|chemotaxis|defense response to bacterium|immune response|inflammatory response|signal transduction	extracellular space	chemokine activity			cervix(1)|lung(2)	3		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;7.3e-11)|all cancers(144;4.13e-08)|Lung(261;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0115)		CTGCTGTCTTGGATACACAGA	0.363000														148			11		1.99824e-07	3.79773e-06	0.000566183	1	0
PROS1	5627	broad.mit.edu	37	3	93593220	93593220	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr3:93593220C>T	uc003drb.4	-	14	2241	c.1900G>A	c.(1900-1902)Gcc>Acc	p.A634T	PROS1_uc010hoo.3_Missense_Mutation_p.A503T|PROS1_uc003dqz.4_Missense_Mutation_p.A503T	NM_000313	NP_000304	P07225	PROS_HUMAN	Homo sapiens protein S (alpha) (PROS1), mRNA.	634	Laminin G-like 2.				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)	TTATAAAAGGCATTCACTGGT	0.363000														54			8		0	0	0.000219431	0	0
CC2D2A	57545	broad.mit.edu	37	4	15534904	15534904	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr4:15534904C>T	uc010idv.2	+	14	1800	c.1555C>T	c.(1555-1557)Ctt>Ttt	p.L519F	CC2D2A_uc003gnx.3_Missense_Mutation_p.L470F|CC2D2A_uc003gnv.2_Missense_Mutation_p.L519F	NM_001080522	NP_001073991	Q9P2K1	C2D2A_HUMAN	Homo sapiens coiled-coil and C2 domain containing 2A (CC2D2A), transcript variant 1, mRNA.	519					cell projection organization	cilium|microtubule basal body				NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|urinary_tract(2)	32						GATGAAATCCCTTCGAGAGTT	0.313000														70			10		0	0	0.000442599	0	0
RPTOR	57521	broad.mit.edu	37	17	78704470	78704470	+	Missense_Mutation	SNP	C	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr17:78704470C>A	uc002jyt.1	+	4	1423	c.618C>A	c.(616-618)ttC>ttA	p.F206L	RPTOR_uc002jys.3_Missense_Mutation_p.F206L|RPTOR_uc010wuf.1_Missense_Mutation_p.F21L|RPTOR_uc010wug.1_Missense_Mutation_p.F206L	NM_020761	NP_065812	Q8N122	RPTOR_HUMAN	Homo sapiens regulatory associated protein of MTOR, complex 1 (RPTOR), transcript variant 1, mRNA.	206					TOR signaling cascade|cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of TOR signaling cascade|positive regulation of protein serine/threonine kinase activity	TORC1 complex|cytosol|lysosome	protein complex binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						TCAAGTCCTTCAAGCAGTTCG	0.567000														102			8		6.40141e-05	0.00103518	6.40141e-05	1	0
MSH5	4439	broad.mit.edu	37	6	31726610	31726610	+	Silent	SNP	G	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr6:31726610G>T	uc003nwu.2	+	14	1412	c.1284G>T	c.(1282-1284)ctG>ctT	p.L428L	MSH5_uc003nwx.2_Silent_p.L445L|MSH5_uc003nwv.2_Silent_p.L428L|MSH5_uc003nww.2_Silent_p.L428L|MSH5_uc011dof.1_Silent_p.L127L|MSH5_uc003nwy.1_Silent_p.L102L|SAPCD1_uc003nwz.4_5'Flank	NM_172165	NP_751897	O43196	MSH5_HUMAN	Homo sapiens mutS homolog 5 (E. coli) (MSH5), transcript variant 2, mRNA.	428					chiasma assembly|homologous chromosome segregation|meiotic prophase II|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding			breast(1)|ovary(2)|skin(2)	5						TGGAGAATCTGGACTCCCGTA	0.507000								Direct reversal of damage;Mismatch excision repair (MMR)						250			10		0.000673444	0.00850193	0.000673444	1	0
MXRA5	25878	broad.mit.edu	37	X	3241350	3241350	+	Silent	SNP	C	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chrX:3241350C>T	uc004crg.4	-	4	2533	c.2376G>A	c.(2374-2376)ggG>ggA	p.G792G		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	792						extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GGAGATTTTTCCCACGGACTT	0.453000														127			11		0	0	0.000673444	0	0
WBP1	23559	broad.mit.edu	37	2	74687147	74687147	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr2:74687147C>T	uc002slj.2	+	2	523	c.320C>T	c.(319-321)cCt>cTt	p.P107L	INO80B_uc002sli.2_Non-coding_Transcript|WBP1_uc002sll.2_Non-coding_Transcript	NM_012477	NP_036609	Q96G27	WBP1_HUMAN	Homo sapiens WW domain binding protein 1 (WBP1), mRNA.	107							WW domain binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	8						GGGGCTGGTCCTTTCCCTACC	0.572000														64			14		0	0	0.000422831	0	0
KBTBD10	10324	broad.mit.edu	37	2	170377373	170377373	+	Missense_Mutation	SNP	G	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr2:170377373G>T	uc002ueu.1	+	4	1642	c.1565G>T	c.(1564-1566)tGg>tTg	p.W522L	KBTBD10_uc010zdh.1_Missense_Mutation_p.W460L	NM_006063	NP_006054	O60662	KBTBA_HUMAN	Homo sapiens kelch repeat and BTB (POZ) domain containing 10 (KBTBD10), mRNA.	522					striated muscle contraction	centrosome|nucleolus|plasma membrane|pseudopodium|ruffle				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|urinary_tract(1)	19						ATACCTAGATGGGATGTAATG	0.333000														91			6		0.000442599	0.00580232	0.000442599	1	0
TRIP4	9325	broad.mit.edu	37	15	64710742	64710742	+	Missense_Mutation	SNP	G	C	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr15:64710742G>C	uc002anm.3	+	8	1233	c.1173G>C	c.(1171-1173)tgG>tgC	p.W391C		NM_016213	NP_057297	Q15650	TRIP4_HUMAN	Homo sapiens thyroid hormone receptor interactor 4 (TRIP4), mRNA.	391					positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	ligand-dependent nuclear receptor binding|transcription coactivator activity|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21						CTGTGTAGTGGGTTGACCACA	0.418000														67			4		0	0	0.00024832	0	0
TNR	7143	broad.mit.edu	37	1	175375605	175375605	+	Silent	SNP	C	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:175375605C>T	uc001gkp.1	-	0	327	c.246G>A	c.(244-246)ggG>ggA	p.G82G	TNR_uc009wwu.1_Silent_p.G82G|TNR_uc010pmz.1_Silent_p.G82G	NM_003285	NP_003276	Q92752	TENR_HUMAN	Homo sapiens tenascin R (restrictin, janusin) (TNR), mRNA.	82					axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					AGGCCTCTAGCCCTGAGGAGC	0.552000														116			14		0	0	0.000308642	0	0
AR	367	broad.mit.edu	37	X	66863242	66863242	+	Silent	SNP	C	G	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chrX:66863242C>G	uc004dwu.2	+	1	2876	c.1761C>G	c.(1759-1761)gcC>gcG	p.A587A	AR_uc011mpd.2_Silent_p.A587A|AR_uc011mpe.1_Non-coding_Transcript|AR_uc011mpf.1_Silent_p.A587A|AR_uc022byj.1_Intron|AR_uc022byk.1_Silent_p.A587A|AR_uc004dwv.2_Silent_p.A55A	NM_000044	NP_000035	P10275	ANDR_HUMAN	Homo sapiens androgen receptor (AR), transcript variant 1, mRNA.	586	Interaction with HIPK3 (By similarity).		A -> S (in prostate cancer; somatic mutation).		cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport	cytoplasm|nuclear chromatin|nucleoplasm	androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding	p.A587A(2)|p.A397A(1)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624)	TCAAAAGAGCCGCTGAAGGTA	0.488000									Androgen Insensitivity Syndrome					27			3		0	0	0.00024832	0	0
KIF21B	23046	broad.mit.edu	37	1	200943844	200943844	+	Silent	SNP	G	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:200943844G>T	uc001gvs.2	-	33	5129	c.4812C>A	c.(4810-4812)tcC>tcA	p.S1604S	KIF21B_uc009wzl.2_Silent_p.S1604S|KIF21B_uc001gvr.2_Silent_p.S1591S|KIF21B_uc010ppn.2_Silent_p.S1591S	NM_001252100	NP_001239029	O75037	KI21B_HUMAN	Homo sapiens kinesin family member 21B (KIF21B), transcript variant 1, mRNA.	1604					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						GCACCCACCTGGAGGCTGTGA	0.602000														98			7		0.000274275	0.00385584	0.000274275	1	0
CPXM2	119587	broad.mit.edu	37	10	125528043	125528043	+	Splice_Site	SNP	C	G	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr10:125528043C>G	uc001lhk.1	-	9	1624	c.1299_splice	c.e9+1	p.G433_splice	CPXM2_uc001lhj.3_Non-coding_Transcript	NM_198148	NP_937791	Q8N436	CPXM2_HUMAN	Homo sapiens carboxypeptidase X (M14 family), member 2 (CPXM2), mRNA.	433					cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		GGCCATTACCCCTTCGTAGGC	0.612000														41			4		0	0	8.12818e-05	0	0
ILDR1	286676	broad.mit.edu	37	3	121725861	121725861	+	Missense_Mutation	SNP	G	C	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr3:121725861G>C	uc003ees.3	-	1	409	c.206C>G	c.(205-207)cCt>cGt	p.P69R	ILDR1_uc003eeq.3_Missense_Mutation_p.P81R|ILDR1_uc003eer.3_Missense_Mutation_p.P69R|ILDR1_uc010hrg.3_Missense_Mutation_p.P69R	NM_001199799	NP_001186728	Q86SU0	ILDR1_HUMAN	Homo sapiens immunoglobulin-like domain containing receptor 1 (ILDR1), transcript variant 1, mRNA.	69	Ig-like V-type.					cytosol|integral to membrane|plasma membrane	receptor activity	p.D68N(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(114;0.156)		GTCAAAGATAGGGTCCTTGCA	0.537000														22			3		0	0	6.4e-05	0	0
COL4A4	1286	broad.mit.edu	37	2	227924905	227924905	+	Missense_Mutation	SNP	C	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr2:227924905C>A	uc021vxr.1	-	25	2212	c.2111G>T	c.(2110-2112)gGg>gTg	p.G704V	COL4A4_uc021vxs.1_Missense_Mutation_p.G704V	NM_000092	NP_000083	P53420	CO4A4_HUMAN	Homo sapiens collagen, type IV, alpha 4 (COL4A4), mRNA.	704	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		GCCTTTATGCCCATCTGAACC	0.428000														162			10		7.48243e-07	1.38262e-05	0.000442599	1	0
IVNS1ABP	10625	broad.mit.edu	37	1	185269201	185269201	+	Silent	SNP	T	C	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:185269201T>C	uc001grl.3	-	12	2054	c.1431A>G	c.(1429-1431)aaA>aaG	p.K477K	IVNS1ABP_uc001gri.3_Silent_p.K137K|IVNS1ABP_uc001grj.3_Silent_p.K137K|IVNS1ABP_uc009wyj.3_Silent_p.K259K|IVNS1ABP_uc009wyk.3_Non-coding_Transcript|IVNS1ABP_uc001grm.3_Silent_p.K137K	NM_006469	NP_006460	Q9Y6Y0	NS1BP_HUMAN	Homo sapiens influenza virus NS1A binding protein (IVNS1ABP), mRNA.	477					RNA splicing|interspecies interaction between organisms|response to virus|transcription from RNA polymerase III promoter	cytoplasm|cytoskeleton|spliceosomal complex|transcription factor complex				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(4)|prostate(2)	29						TTTTCAGTCCTTTTTGACCAT	0.323000														67			4		0	0	0.00024832	0	0
DENND5A	23258	broad.mit.edu	37	11	9187442	9187442	+	Missense_Mutation	SNP	C	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr11:9187442C>A	uc001mhl.3	-	10	2481	c.2224G>T	c.(2224-2226)Gtg>Ttg	p.V742L	DENND5A_uc001mhk.3_Missense_Mutation_p.V85L|DENND5A_uc010rbw.2_Missense_Mutation_p.V742L|DENND5A_uc010rbx.2_Non-coding_Transcript	NM_015213	NP_056028	Q6IQ26	DEN5A_HUMAN	Homo sapiens DENN/MADD domain containing 5A (DENND5A), transcript variant 1, mRNA.	742										breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						TGGGCAATCACTGATGGAGAG	0.468000														88			6		0.000157383	0.00233702	0.000157383	1	0
POMT1	10585	broad.mit.edu	37	9	134387518	134387518	+	Silent	SNP	C	G	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr9:134387518C>G	uc004cav.3	+	10	1345	c.1143C>G	c.(1141-1143)ccC>ccG	p.P381P	POMT1_uc004cax.3_Silent_p.P359P|POMT1_uc011mcj.2_Silent_p.P137P|POMT1_uc004cau.3_Silent_p.P359P|POMT1_uc004caw.3_Silent_p.P305P|POMT1_uc011mck.2_Silent_p.P242P|POMT1_uc011mcl.2_Silent_p.P207P|POMT1_uc011mcm.2_Silent_p.P329P	NM_007171	NP_009102	Q9Y6A1	POMT1_HUMAN	Homo sapiens protein-O-mannosyltransferase 1 (POMT1), transcript variant 1, mRNA.	381	MIR 1.				multicellular organismal development|protein O-linked glycosylation	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-mannose-protein mannosyltransferase activity|metal ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	31		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.65e-05)|Epithelial(140;0.000259)		TAAAGGATCCCAGGAGGTGAG	0.577000														53			5		0	0	0.000157383	0	0
ZNF474	133923	broad.mit.edu	37	5	121488389	121488389	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr5:121488389C>T	uc003ksv.3	+	1	1080	c.704C>T	c.(703-705)tCc>tTc	p.S235F	ZNF474_uc021ycy.1_Missense_Mutation_p.S235F	NM_207317	NP_997200	Q6S9Z5	ZN474_HUMAN	Homo sapiens zinc finger protein 474 (ZNF474), mRNA.	235						intracellular	zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|stomach(1)	21		all_cancers(142;0.229)|Prostate(80;0.0387)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000197)|Epithelial(69;0.00029)|all cancers(49;0.00415)		GGCACCCTGTCCCTTCCTATT	0.517000														142			19		0	0	0.000375601	0	0
MACROD2	140733	broad.mit.edu	37	20	15967371	15967371	+	Splice_Site	SNP	G	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr20:15967371G>T	uc002wou.3	+	14	1250	c.986_splice	c.e14-1	p.G329_splice	MACROD2_uc002wot.3_Splice_Site_p.G329_splice|MACROD2_uc002woz.3_Splice_Site_p.G94_splice|MACROD2_uc002wpb.3_Splice_Site_p.G94_splice|MACROD2_uc002wpd.3_Splice_Site	NM_080676	NP_542407	A1Z1Q3	MACD2_HUMAN	Homo sapiens MACRO domain containing 2 (MACROD2), transcript variant 1, mRNA.	329	Glu-rich.									breast(2)|kidney(4)|large_intestine(5)|lung(8)|skin(1)	20		all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175)				GTTTTGAACAGGACAAGAGAA	0.338000														94			8		0.000274275	0.00385584	0.000274275	1	0
CTPS1	1503	broad.mit.edu	37	1	41466748	41466748	+	Silent	SNP	C	G	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:41466748C>G	uc001cgk.4	+	9	1561	c.1053C>G	c.(1051-1053)ccC>ccG	p.P351P	CTPS1_uc010ojo.2_Silent_p.P120P|CTPS1_uc001cgl.4_Silent_p.P351P|CTPS1_uc010ojq.2_Silent_p.P195P	NM_001905	NP_001896	P17812	PYRG1_HUMAN	Homo sapiens CTP synthase (CTPS), mRNA.	351	Glutamine amidotransferase type-1.				CTP biosynthetic process|glutamine metabolic process|nucleobase, nucleoside and nucleotide interconversion|response to drug	cytosol	ATP binding|CTP synthase activity|protein binding			endometrium(3)|lung(10)	13					L-Glutamine(DB00130)	AAGAAGAGCCCGTGCGCTACC	0.507000														44			4		0	0	0.000602214	0	0
KRT2	3849	broad.mit.edu	37	12	53044242	53044242	+	Silent	SNP	G	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr12:53044242G>T	uc001sat.3	-	1	714	c.681C>A	c.(679-681)ccC>ccA	p.P227P		NM_000423	NP_000414	P35908	K22E_HUMAN	Homo sapiens keratin 2 (KRT2), mRNA.	227	Linker 1.|Rod.				keratinization|keratinocyte activation|keratinocyte migration|keratinocyte proliferation	Golgi apparatus|keratin filament	protein binding|structural constituent of cytoskeleton			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32				BRCA - Breast invasive adenocarcinoma(357;0.19)		CCTGGAAGATGGGCTCCAGGT	0.507000														133			10		0.000673444	0.00850193	0.000673444	1	0
RBMX2	51634	broad.mit.edu	37	X	129543263	129543263	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chrX:129543263G>A	uc004evt.3	+	3	270	c.206G>A	c.(205-207)cGg>cAg	p.R69Q		NM_016024	NP_057108	Q9Y388	RBMX2_HUMAN	Homo sapiens RNA binding motif protein, X-linked 2 (RBMX2), mRNA.	69	RRM.						RNA binding|nucleotide binding	p.R69W(2)		breast(4)|endometrium(2)|large_intestine(1)|liver(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	19						AATCTCGTGCGGGACAAGAAA	0.378000														129			7		0	0	8.12818e-05	0	0
CACHD1	57685	broad.mit.edu	37	1	65145412	65145412	+	Nonsense_Mutation	SNP	C	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:65145412C>T	uc001dbo.1	+	23	3331	c.3226C>T	c.(3226-3228)Cag>Tag	p.Q1076*	CACHD1_uc001dbp.1_Nonsense_Mutation_p.Q831*|CACHD1_uc001dbq.1_Nonsense_Mutation_p.Q831*|CACHD1_uc010opa.1_Nonsense_Mutation_p.Q320*	NM_020925	NP_065976	Q5VU97	CAHD1_HUMAN	Homo sapiens cache domain containing 1 (CACHD1), mRNA.	1127					calcium ion transport	integral to membrane				breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						CCGGAGCCATCAGCATATGTC	0.597000														45			6		0	0	8.12818e-05	0	0
LRFN2	57497	broad.mit.edu	37	6	40400541	40400541	+	Silent	SNP	G	A	A	rs150510241		TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr6:40400541G>A	uc003oph.1	-	1	777	c.312C>T	c.(310-312)tcC>tcT	p.S104S		NM_020737	NP_065788	Q9ULH4	LRFN2_HUMAN	Homo sapiens leucine rich repeat and fibronectin type III domain containing 2 (LRFN2), mRNA.	104						cell junction|integral to membrane|postsynaptic membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					CAAGATGCAGGGAGCGGAGGC	0.602000														72			17		0	0	0.00074312	0	0
NAV3	89795	broad.mit.edu	37	12	78592398	78592398	+	Missense_Mutation	SNP	G	C	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr12:78592398G>C	uc001syp.3	+	35	6633	c.6460G>C	c.(6460-6462)Gga>Cga	p.G2154R	NAV3_uc001syo.3_Missense_Mutation_p.G2132R|NAV3_uc010sub.2_Missense_Mutation_p.G1611R|NAV3_uc009zsf.3_Missense_Mutation_p.G963R	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN	Homo sapiens neuron navigator 3 (NAV3), mRNA.	2154						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						ATATATTATTGGAACAATGAA	0.269000										HNSCC(70;0.22)				81			5		0	0	0.000274275	0	0
DKFZp666K117	0	broad.mit.edu	37	13	32527522	32527522	+	RNA	SNP	C	G	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr13:32527522C>G	uc001utu.2	+	3		c.1280C>G			DKFZp666K117_uc010tdv.2_Intron|DKFZp666K117_uc001utv.3_Non-coding_Transcript					Homo sapiens eukaryotic translation elongation factor 1 delta pseudogene 3 (EEF1DP3), non-coding RNA.																		TGTGTGTGCCCGCGTGCATGA	0.443000														53			5		0	0	0.000602214	0	0
GZMH	2999	broad.mit.edu	37	14	25078864	25078864	+	Splice_Site	SNP	C	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr14:25078864C>T	uc001wpr.1	-	1	1	c.-44_splice	c.e1-1		GZMH_uc010aly.1_Splice_Site|GZMH_uc010alz.1_Splice_Site	NM_033423	NP_219491	P20718	GRAH_HUMAN	Homo sapiens granzyme H (cathepsin G-like 2, protein h-CCPX) (GZMH), mRNA.						apoptosis|cytolysis|proteolysis	cytoplasm	serine-type endopeptidase activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)	12				GBM - Glioblastoma multiforme(265;0.0267)		GTGTTGACTCCTTCCAGAAAC	0.527000														48			6		0	0	3.59834e-05	0	0
OVOL1	5017	broad.mit.edu	37	11	65562583	65562583	+	Missense_Mutation	SNP	A	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr11:65562583A>T	uc001ofp.3	+	3	915	c.575A>T	c.(574-576)cAc>cTc	p.H192L	OVOL1_uc001ofq.3_Missense_Mutation_p.H130L	NM_004561	NP_004552	O14753	OVOL1_HUMAN	Homo sapiens ovo-like 1(Drosophila) (OVOL1), mRNA.	192					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)|upper_aerodigestive_tract(1)	6				READ - Rectum adenocarcinoma(159;0.17)		CTGGAGTCTCACCTCAAGAAG	0.612000														42			4		0	0	0.00024832	0	0
NLRP11	204801	broad.mit.edu	37	19	56320425	56320425	+	Missense_Mutation	SNP	C	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr19:56320425C>A	uc010ygf.2	-	4	2262	c.1551G>T	c.(1549-1551)atG>atT	p.M517I	NLRP11_uc002qlz.3_Missense_Mutation_p.M418I|NLRP11_uc002qmb.3_Missense_Mutation_p.M418I|NLRP11_uc002qmc.3_Non-coding_Transcript|NLRP11_uc010ete.1_Non-coding_Transcript	NM_145007	NP_659444	P59045	NAL11_HUMAN	Homo sapiens NLR family, pyrin domain containing 11 (NLRP11), mRNA.	517							ATP binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		AGCTGTCTACCATCGGTAGCT	0.408000														153			8		5.18039e-06	9.16098e-05	0.000157383	1	0
KRT39	390792	broad.mit.edu	37	17	39119953	39119953	+	Missense_Mutation	SNP	C	G	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr17:39119953C>G	uc002hvo.1	-	2	670	c.634G>C	c.(634-636)Ggc>Cgc	p.G212R	KRT39_uc010wfm.1_5'UTR	NM_213656	NP_998821	Q6A163	K1C39_HUMAN	Homo sapiens keratin 39 (KRT39), mRNA.	212	Coil 1B.|Rod.					intermediate filament	structural molecule activity			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	17		Breast(137;0.00043)|Ovarian(249;0.15)				TCGGCCTTGCCCAGGGTCAGC	0.502000														120			5		0	0	0.000602214	0	0
HMGCR	3156	broad.mit.edu	37	5	74654481	74654481	+	Splice_Site	SNP	G	C	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr5:74654481G>C	uc011cst.2	+	16	2299	c.2047_splice	c.e16-1	p.G683_splice	HMGCR_uc003kdp.3_Splice_Site_p.G663_splice|HMGCR_uc003kdq.3_Splice_Site_p.G610_splice|HMGCR_uc010izo.3_5'Flank|HMGCR_uc010izp.3_5'Flank	NM_000859	NP_000850	P04035	HMDH_HUMAN	Homo sapiens 3-hydroxy-3-methylglutaryl-CoA reductase (HMGCR), transcript variant 1, mRNA.	663	Catalytic.				cholesterol biosynthetic process|coenzyme A metabolic process|germ cell migration|gonad development|isoprenoid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|peroxisomal membrane	NADP binding|hydroxymethylglutaryl-CoA reductase (NADPH) activity			breast(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	20		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)		OV - Ovarian serous cystadenocarcinoma(47;2.24e-54)	Atorvastatin(DB01076)|Bezafibrate(DB01393)|Cerivastatin(DB00439)|Fluvastatin(DB01095)|Lovastatin(DB00227)|NADH(DB00157)|Pravastatin(DB00175)|Rosuvastatin(DB01098)|Simvastatin(DB00641)	CTTGTTAACAGGGTACAGAGA	0.348000														173			6		0	0	0.000157383	0	0
GRIN3A	116443	broad.mit.edu	37	9	104499681	104499681	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr9:104499681G>A	uc004bbp.2	-	0	1182	c.581C>T	c.(580-582)tCg>tTg	p.S194L	GRIN3A_uc004bbq.1_Missense_Mutation_p.S194L	NM_133445	NP_597702	Q8TCU5	NMD3A_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl-D-aspartate 3A (GRIN3A), mRNA.	194					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|protein phosphatase 2A binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	GAGCAGCGCCGACACCCCTTG	0.592000														41			22		0	0	0.000295444	0	0
GRID2	2895	broad.mit.edu	37	4	94316791	94316791	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr4:94316791G>A	uc011cdt.2	+	8	1537	c.1279G>A	c.(1279-1281)Ggg>Agg	p.G427R	GRID2_uc011cdu.2_Missense_Mutation_p.G332R	NM_001510	NP_001501	O43424	GRID2_HUMAN	Homo sapiens glutamate receptor, ionotropic, delta 2 (GRID2), mRNA.	427					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	AGGTCTGAATGGGTCACTGAC	0.433000														48			4		0	0	3.59834e-05	0	0
NDRG1	10397	broad.mit.edu	37	8	134292501	134292501	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr8:134292501C>T	uc003yuh.2	-	2	659	c.73G>A	c.(73-75)Ggc>Agc	p.G25S	NDRG1_uc003yug.2_Missense_Mutation_p.G25S|NDRG1_uc010mee.2_5'UTR|NDRG1_uc010mef.2_Intron|NDRG1_uc011ljh.1_5'UTR|NDRG1_uc011lji.1_Intron	NM_001135242	NP_006087	Q92597	NDRG1_HUMAN	Homo sapiens N-myc downstream regulated 1 (NDRG1), transcript variant 1, mRNA.	25					cellular response to hypoxia|response to metal ion	cytoplasm|microtubule cytoskeleton|nucleus|plasma membrane	protein binding		NDRG1/ERG(5)	endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(4)|prostate(1)|skin(1)	17	all_epithelial(106;4.26e-24)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0107)			TGCAGGAGGCCGGTGATGGTC	0.408000			T	ERG	prostate									90			5		0	0	0.000602214	0	0
RPGRIP1L	23322	broad.mit.edu	37	16	53672265	53672265	+	Missense_Mutation	SNP	G	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr16:53672265G>T	uc002ehp.3	-	19	3081	c.3017C>A	c.(3016-3018)cCa>cAa	p.P1006Q	RPGRIP1L_uc002eho.4_Intron|RPGRIP1L_uc010vgy.2_Missense_Mutation_p.P1006Q|RPGRIP1L_uc010cbx.3_Intron|RPGRIP1L_uc010vgz.1_Missense_Mutation_p.P1006Q	NM_015272	NP_056087	Q68CZ1	FTM_HUMAN	Homo sapiens RPGRIP1-like (RPGRIP1L), transcript variant 1, mRNA.	1006					negative regulation of G-protein coupled receptor protein signaling pathway	cell-cell junction|centrosome|cilium axoneme|microtubule basal body	thromboxane A2 receptor binding			endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2)	46		all_cancers(37;0.0973)				TTCTATTTCTGGTATATGCTC	0.328000														311			14		0.000175454	0.0026026	0.000175454	1	0
SPG11	80208	broad.mit.edu	37	15	44892673	44892673	+	Silent	SNP	G	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr15:44892673G>T	uc001ztx.3	-	20	3709	c.3678C>A	c.(3676-3678)ccC>ccA	p.P1226P	SPG11_uc010ueh.2_Silent_p.P1226P|SPG11_uc010uei.2_Silent_p.P1226P|SPG11_uc001zty.1_5'UTR	NM_025137	NP_079413	Q96JI7	SPTCS_HUMAN	Homo sapiens spastic paraplegia 11 (autosomal recessive) (SPG11), transcript variant 1, mRNA.	1226					cell death	cytosol|integral to membrane|nucleus	protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		ACAGCTGCTTGGGAGTCTTGC	0.423000														202			14		7.07596e-05	0.00113768	0.00074312	1	0
LMOD1	25802	broad.mit.edu	37	1	201869777	201869777	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:201869777C>T	uc021phl.1	-	1	612	c.364G>A	c.(364-366)Ggg>Agg	p.G122R	LMOD1_uc021phm.1_Missense_Mutation_p.G122R|LMOD1_uc010ppu.2_Intron	NM_012134	NP_036266	P29536	LMOD1_HUMAN	Homo sapiens leiomodin 1 (smooth muscle) (LMOD1), mRNA.	122					muscle contraction	cytoskeleton|cytosol|membrane fraction	tropomyosin binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						GGCTCCTTCCCCAGATCTGAG	0.527000														182			29		0	0	0.000279167	0	0
ZP1	22917	broad.mit.edu	37	11	60637857	60637857	+	Nonsense_Mutation	SNP	C	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr11:60637857C>A	uc001nqd.3	+	3	755	c.735C>A	c.(733-735)tgC>tgA	p.C245*	ZP1_uc001nqe.3_5'Flank	NM_207341	NP_997224	P60852	ZP1_HUMAN	Homo sapiens zona pellucida glycoprotein 1 (sperm receptor) (ZP1), mRNA.	245	P-type.				single fertilization	integral to membrane|plasma membrane|proteinaceous extracellular matrix				breast(3)|endometrium(2)|large_intestine(8)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						ACCTCCCCTGCATCGTGAGAA	0.547000														45			4		0.000157383	0.00233702	0.000157383	1	0
CUBN	8029	broad.mit.edu	37	10	17126317	17126317	+	Missense_Mutation	SNP	G	C	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr10:17126317G>C	uc001ioo.3	-	16	2306	c.2254C>G	c.(2254-2256)Cac>Gac	p.H752D		NM_001081	NP_001072	O60494	CUBN_HUMAN	Homo sapiens cubilin (intrinsic factor-cobalamin receptor) (CUBN), mRNA.	752	CUB 3.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	AGCTCCACGTGGGTGAAGTTG	0.438000														69			5		0	0	0.000157383	0	0
NFYC	4802	broad.mit.edu	37	1	41204606	41204606	+	Missense_Mutation	SNP	C	G	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:41204606C>G	uc001cge.3	+	0	99	c.91C>G	c.(91-93)Cgg>Ggg	p.R31G	NFYC_uc010ojm.1_Missense_Mutation_p.R31G|NFYC_uc001cfx.4_Missense_Mutation_p.R31G|NFYC_uc009vwd.3_Missense_Mutation_p.R31G|NFYC_uc001cfz.3_Missense_Mutation_p.R31G|NFYC_uc010ojn.2_Missense_Mutation_p.R31G|NFYC_uc001cfy.4_Missense_Mutation_p.R31G|NFYC_uc001cgc.3_Missense_Mutation_p.R31G|NFYC_uc001cgb.3_Missense_Mutation_p.R31G	NM_001142588	NP_001136060	Q13952	NFYC_HUMAN	Homo sapiens nuclear transcription factor Y, gamma (NFYC), transcript variant 1, mRNA.	31					protein folding|regulation of transcription from RNA polymerase II promoter	CCAAT-binding factor complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(3)|lung(1)|prostate(1)|skin(2)	15	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.72e-17)			GGAAGAAATCCGGAATTTAAC	0.423000														61			4		0	0	0.00024832	0	0
PCDHB12	56124	broad.mit.edu	37	5	140588603	140588603	+	Missense_Mutation	SNP	G	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr5:140588603G>T	uc003liz.3	+	0	313	c.124G>T	c.(124-126)Ggg>Tgg	p.G42W	PCDHB12_uc011dak.2_5'UTR	NM_018932	NP_061755	Q9Y5F1	PCDBC_HUMAN	Homo sapiens protocadherin beta 12 (PCDHB12), mRNA.	42	Cadherin 1.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.G42W(2)		NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ATTGCAGAGCGGGAGCTTTGT	0.498000														164			7		0.000442599	0.00580232	0.000442599	1	0
AHNAK2	113146	broad.mit.edu	37	14	105412377	105412377	+	Silent	SNP	A	C	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr14:105412377A>C	uc010axc.1	-	6	9531	c.9411T>G	c.(9409-9411)acT>acG	p.T3137T	AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Silent_p.T3037T	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	3137						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TGTCTTTGGCAGTCACATCCT	0.597000														63			6		0	0	0.000157383	0	0
NBPF14	25832	broad.mit.edu	37	1	148015662	148015662	+	Missense_Mutation	SNP	C	G	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:148015662C>G	uc001eqq.3	-	7	1001	c.969G>C	c.(967-969)ttG>ttC	p.L323F	NBPF14_uc001eqe.3_Intron|NBPF14_uc001eqf.3_Intron|NBPF14_uc001eqg.3_Intron|FLJ39739_uc001eqo.1_Intron|NBPF14_uc021ovz.1_Intron|NBPF14_uc021owa.1_Intron|NBPF14_uc021owb.1_Intron|NBPF14_uc021owc.1_Intron|NBPF14_uc021owe.1_Intron|NBPF14_uc021owf.1_Intron|NBPF14_uc021owg.1_Intron|NBPF14_uc021owh.1_Intron|NBPF14_uc021owd.1_Missense_Mutation_p.L202F	NM_015383	NP_056198	Q5TI25	NBPFE_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 14 (NBPF14), mRNA.	323	NBPF 3.					cytoplasm				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(23)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	42	all_hematologic(923;0.032)					GCTGTTGCTCCAATACGTAAA	0.453000														111			6		0	0	8.12818e-05	0	0
VASP	7408	broad.mit.edu	37	19	46021212	46021212	+	Missense_Mutation	SNP	G	C	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr19:46021212G>C	uc002pcg.3	+	2	545	c.203G>C	c.(202-204)cGg>cCg	p.R68P	VASP_uc002pci.3_Missense_Mutation_p.R55P	NM_003370	NP_003361	P50552	VASP_HUMAN	Homo sapiens vasodilator-stimulated phosphoprotein (VASP), mRNA.	68	WH1.				T cell receptor signaling pathway|axon guidance|cell junction assembly	actin cytoskeleton|cytosol|filopodium membrane|focal adhesion|lamellipodium membrane	SH3 domain binding|actin binding|profilin binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(2)	18		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0145)|GBM - Glioblastoma multiforme(486;0.154)		GCCATCGTCCGGGGTGTCAAG	0.677000														21			3		0	0	0.000602214	0	0
SCUBE1	80274	broad.mit.edu	37	22	43658763	43658763	+	Silent	SNP	G	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr22:43658763G>T	uc003bdt.2	-	4	700	c.573C>A	c.(571-573)ccC>ccA	p.P191P	SCUBE1_uc003bdu.2_Silent_p.P191P	NM_173050	NP_766638	Q8IWY4	SCUB1_HUMAN	Homo sapiens signal peptide, CUB domain, EGF-like 1 (SCUBE1), mRNA.	191	EGF-like 4 (Potential).				adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization	external side of plasma membrane|extracellular space|extrinsic to plasma membrane	calcium ion binding|identical protein binding|protein heterodimerization activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_neural(38;0.0414)|Ovarian(80;0.07)				GGTCAAAGCCGGGCCTGCAGT	0.577000														72			5		0.000442599	0.00580232	0.000442599	1	0
RNF17	56163	broad.mit.edu	37	13	25356080	25356080	+	Silent	SNP	C	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr13:25356080C>A	uc001upr.3	+	5	650	c.609C>A	c.(607-609)tcC>tcA	p.S203S	RNF17_uc010tdd.1_Silent_p.S62S|RNF17_uc010tde.2_Silent_p.S203S|RNF17_uc010aab.3_Non-coding_Transcript|RNF17_uc001ups.3_Silent_p.S142S|RNF17_uc001upq.1_Silent_p.S203S	NM_031277	NP_112567	Q9BXT8	RNF17_HUMAN	Homo sapiens ring finger protein 17 (RNF17), transcript variant 1, mRNA.	203					multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		TTTTTGATTCCAGGTTAGTAA	0.338000														48			5		8.12818e-05	0.00127893	8.12818e-05	1	0
WDR72	256764	broad.mit.edu	37	15	53998248	53998248	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr15:53998248C>T	uc002acj.2	-	9	1020	c.978G>A	c.(976-978)atG>atA	p.M326I	WDR72_uc010bfi.1_Missense_Mutation_p.M326I	NM_182758	NP_877435	Q3MJ13	WDR72_HUMAN	Homo sapiens WD repeat domain 72 (WDR72), mRNA.	326								p.M326I(2)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		TCATGTAGCCCATAACAAAGG	0.388000														71			7		0	0	0.000442599	0	0
PIAS3	10401	broad.mit.edu	37	1	145579312	145579312	+	Missense_Mutation	SNP	G	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:145579312G>T	uc001eoc.1	+	4	740	c.649G>T	c.(649-651)Ggg>Tgg	p.G217W	PIAS3_uc010oyy.1_Missense_Mutation_p.G208W|PIAS3_uc001eod.1_5'Flank	NM_006099	NP_006090	Q9Y6X2	PIAS3_HUMAN	Homo sapiens protein inhibitor of activated STAT, 3 (PIAS3), mRNA.	217	PINIT.				positive regulation of protein sumoylation|protein sumoylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	enzyme binding|nucleic acid binding|protein C-terminus binding|zinc ion binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)	28	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CAAGGTCAATGGGAAACTGTG	0.453000														172			8		6.40141e-05	0.00103518	6.40141e-05	1	0
RBMX	27316	broad.mit.edu	37	X	135961216	135961216	+	Missense_Mutation	SNP	G	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chrX:135961216G>T	uc004fae.2	-	2	386	c.176C>A	c.(175-177)cCa>cAa	p.P59Q	RBMX_uc011mwf.1_Missense_Mutation_p.P59Q|RBMX_uc004fad.1_Missense_Mutation_p.P59Q|RBMX_uc011mwg.2_Missense_Mutation_p.P20Q|RBMX_uc004faf.2_5'UTR	NM_002139	NP_002130	P38159	HNRPG_HUMAN	Homo sapiens RNA binding motif protein, X-linked (RBMX), transcript variant 1, mRNA.	59	RRM.					catalytic step 2 spliceosome|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	RNA binding|nucleotide binding|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|urinary_tract(1)	33	Acute lymphoblastic leukemia(192;0.000127)					AGCGTCTGCTGGGCTTTCAAA	0.378000														290			11		2.23348e-06	4.02603e-05	0.000422831	1	0
PNISR	25957	broad.mit.edu	37	6	99852494	99852494	+	Missense_Mutation	SNP	G	C	C	rs143514007		TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr6:99852494G>C	uc003ppo.4	-	8	1315	c.1087C>G	c.(1087-1089)Cgc>Ggc	p.R363G	PNISR_uc003ppp.4_Missense_Mutation_p.R363G|PNISR_uc011eag.2_Missense_Mutation_p.R363G	NM_032870	NP_116259	Q8TF01	PNISR_HUMAN	Homo sapiens PNN-interacting serine/arginine-rich protein (PNISR), transcript variant 1, mRNA.	363						nuclear speck				breast(2)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24						GTTGCTTTGCGGTGTGCATCT	0.368000														71			5		0	0	0.000157383	0	0
GGNBP2	79893	broad.mit.edu	37	17	34937857	34937857	+	Silent	SNP	C	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr17:34937857C>A	uc002hnb.3	+	8	1420	c.1104C>A	c.(1102-1104)ctC>ctA	p.L368L	GGNBP2_uc002hna.3_Silent_p.L368L|GGNBP2_uc002hnc.1_Silent_p.L197L	NM_024835	NP_079111	Q9H3C7	GGNB2_HUMAN	Homo sapiens gametogenetin binding protein 2 (GGNBP2), mRNA.	368					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasmic membrane-bounded vesicle				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)	38		Breast(25;0.00957)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		TAAGAGAACTCAAGCAAGAAA	0.363000														143			9		0.000673444	0.00850193	0.000673444	1	0
TC2N	123036	broad.mit.edu	37	14	92249550	92249550	+	Missense_Mutation	SNP	C	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr14:92249550C>A	uc001xzu.4	-	11	1558	c.1367G>T	c.(1366-1368)tGg>tTg	p.W456L	TC2N_uc001xzt.4_Missense_Mutation_p.W456L|TC2N_uc010auc.3_Missense_Mutation_p.W392L|TC2N_uc001xzv.4_Missense_Mutation_p.W456L	NM_001128595	NP_689545	Q8N9U0	TAC2N_HUMAN	Homo sapiens tandem C2 domains, nuclear (TC2N), transcript variant 2, mRNA.	456	C2.					nucleus				breast(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(5)|skin(1)|upper_aerodigestive_tract(2)	18				COAD - Colon adenocarcinoma(157;0.218)		TTCACTTATCCAAATCTGTAA	0.323000														103			9		9.31168e-06	0.000162005	0.000151284	1	0
GSTP1	2950	broad.mit.edu	37	11	67352198	67352198	+	Missense_Mutation	SNP	C	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr11:67352198C>A	uc001omf.3	+	3	436	c.187C>A	c.(187-189)Ctg>Atg	p.L63M		NM_000852	NP_000843	P09211	GSTP1_HUMAN	Homo sapiens glutathione S-transferase pi 1 (GSTP1), mRNA.	63	GST N-terminal.				anti-apoptosis|cellular response to lipopolysaccharide|central nervous system development|common myeloid progenitor cell proliferation|glutathione metabolic process|negative regulation of ERK1 and ERK2 cascade|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of JUN kinase activity|negative regulation of acute inflammatory response|negative regulation of fibroblast proliferation|negative regulation of interleukin-1 beta production|negative regulation of leukocyte proliferation|negative regulation of monocyte chemotactic protein-1 production|negative regulation of necrotic cell death|negative regulation of nitric-oxide synthase 2 biosynthetic process|negative regulation of stress-activated MAPK cascade|negative regulation of tumor necrosis factor production|nitric oxide storage|positive regulation of superoxide anion generation|response to reactive oxygen species|xenobiotic metabolic process	cytosol|protein complex	JUN kinase binding|S-nitrosoglutathione binding|dinitrosyl-iron complex binding|glutathione transferase activity|kinase regulator activity|nitric oxide binding			central_nervous_system(1)|cervix(1)|endometrium(4)|lung(2)|ovary(1)	9					Ethacrynic acid(DB00903)|Glutathione(DB00143)	AGACCTCACCCTGTACCAGTC	0.637000														80			6		0.000157383	0.00233702	0.000157383	1	0
NES	10763	broad.mit.edu	37	1	156642361	156642361	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:156642361G>A	uc001fpq.3	-	3	1752	c.1619C>T	c.(1618-1620)cCt>cTt	p.P540L	NES_uc021pbh.1_5'Flank	NM_006617	NP_006608	P48681	NEST_HUMAN	Homo sapiens nestin (NES), mRNA.	540	Tail.				G2/M transition of mitotic cell cycle|brain development|embryonic camera-type eye development|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TTTTTCCAAAGGAACCTGGGA	0.458000														145			13		0	0	0.000151284	0	0
CENPJ	55835	broad.mit.edu	37	13	25480915	25480915	+	Missense_Mutation	SNP	G	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr13:25480915G>T	uc001upt.4	-	6	1514	c.1261C>A	c.(1261-1263)Cag>Aag	p.Q421K	CENPJ_uc010tdf.2_Non-coding_Transcript|CENPJ_uc010aaf.3_Non-coding_Transcript|CENPJ_uc001upu.3_5'Flank	NM_018451	NP_060921	Q9HC77	CENPJ_HUMAN	Homo sapiens centromere protein J (CENPJ), mRNA.	421					G2/M transition of mitotic cell cycle|cell division|centriole replication|microtubule nucleation|microtubule polymerization	centriole|cytosol|gamma-tubulin small complex|microtubule	protein domain specific binding|tubulin binding			endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)		GTTTTCCGCTGGAGTTGCTGT	0.433000														128			7		7.48243e-07	1.38262e-05	0.000442599	1	0
ADORA1	134	broad.mit.edu	37	1	203098183	203098183	+	Missense_Mutation	SNP	G	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:203098183G>T	uc010pqh.1	+	1	350	c.313G>T	c.(313-315)Ggg>Tgg	p.G105W	ADORA1_uc001gzf.1_Missense_Mutation_p.G72W|ADORA1_uc001gze.1_Missense_Mutation_p.G72W|ADORA1_uc010pqg.1_5'UTR|ADORA1_uc009xak.1_5'UTR	NM_001048230	NP_001041695	P30542	AA1R_HUMAN	Homo sapiens adenosine A1 receptor (ADORA1), transcript variant 2, mRNA.	72			R -> H (in dbSNP:rs11547176).		induction of apoptosis by extracellular signals|inflammatory response|nervous system development|phagocytosis	integral to plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(9)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	25					Aminophylline(DB01223)|Caffeine(DB00201)|Defibrotide(DB04932)|Gabapentin(DB00996)|Imipramine(DB00458)|Pegademase bovine(DB00061)|Theophylline(DB00277)	CATCAACATTGGGCCACAGAC	0.632000														166			9		0.000442599	0.00580232	0.000442599	1	0
EPS8	2059	broad.mit.edu	37	12	15811501	15811501	+	Missense_Mutation	SNP	C	G	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr12:15811501C>G	uc009zif.3	-	10	1050	c.956G>C	c.(955-957)cGg>cCg	p.R319P	EPS8_uc001rdb.3_Missense_Mutation_p.R319P|EPS8_uc009zig.3_Missense_Mutation_p.R59P|EPS8_uc010shv.2_Missense_Mutation_p.R59P	NM_004447	NP_004438	Q12929	EPS8_HUMAN	Homo sapiens epidermal growth factor receptor pathway substrate 8 (EPS8), mRNA.	319					cell proliferation|epidermal growth factor receptor signaling pathway		SH3/SH2 adaptor activity	p.R319L(2)		NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33		all_epithelial(100;1.87e-05)|Breast(259;0.000286)|Hepatocellular(102;0.244)		BRCA - Breast invasive adenocarcinoma(232;4.29e-05)|GBM - Glioblastoma multiforme(207;0.0264)		AGGTTTTGCCCGCAGCGTTAA	0.348000														146			6		0	0	0.000442599	0	0
ANLN	54443	broad.mit.edu	37	7	36446148	36446148	+	Missense_Mutation	SNP	G	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr7:36446148G>T	uc003tff.3	+	3	1050	c.846G>T	c.(844-846)ttG>ttT	p.L282F	ANLN_uc011kaz.2_Missense_Mutation_p.L194F|ANLN_uc003tfg.3_Missense_Mutation_p.L282F|ANLN_uc010kxe.3_Missense_Mutation_p.L282F	NM_018685	NP_061155	Q9NQW6	ANLN_HUMAN	Homo sapiens anillin, actin binding protein (ANLN), mRNA.	282	Interaction with F-actin.				cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly	actomyosin contractile ring|nucleus	actin binding			breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2)	45						ATGCGTCTTTGGTTAATGCCT	0.418000														267			10		3.07112e-06	5.48644e-05	6.40141e-05	1	0
MYCBP2	23077	broad.mit.edu	37	13	77835375	77835375	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr13:77835375G>A	uc021rks.1	-	11	2050	c.1783C>T	c.(1783-1785)Ctt>Ttt	p.L595F	MYCBP2_uc010aev.3_5'UTR	NM_015057	NP_055872	O75592	MYCB2_HUMAN	Homo sapiens MYC binding protein 2 (MYCBP2), mRNA.	557					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		GCAACTAAAAGGGCGTGAGAG	0.408000														86			12		0	0	0.00010058	0	0
SKIV2L2	23517	broad.mit.edu	37	5	54654434	54654434	+	Missense_Mutation	SNP	C	G	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr5:54654434C>G	uc003jpy.4	+	14	1833	c.1567C>G	c.(1567-1569)Cgt>Ggt	p.R523G	SKIV2L2_uc011cqi.2_Missense_Mutation_p.R422G	NM_015360	NP_056175	P42285	SK2L2_HUMAN	Homo sapiens superkiller viralicidic activity 2-like 2 (S. cerevisiae) (SKIV2L2), mRNA.	523	Helicase C-terminal.				maturation of 5.8S rRNA	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	p.R523H(1)|p.R523P(1)		NS(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194)				GATGTCTGGTCGTGCTGGAAG	0.323000														117			5		0	0	0.000602214	0	0
PIP4K2C	79837	broad.mit.edu	37	12	57993198	57993198	+	Missense_Mutation	SNP	C	G	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr12:57993198C>G	uc001sou.3	+	5	807	c.676C>G	c.(676-678)Cgg>Ggg	p.R226G	PIP4K2C_uc001sot.3_Missense_Mutation_p.R226G|PIP4K2C_uc010srs.2_Missense_Mutation_p.R208G|PIP4K2C_uc010srt.2_Missense_Mutation_p.R178G	NM_001146258	NP_079055	Q8TBX8	PI42C_HUMAN	Homo sapiens phosphatidylinositol-5-phosphate 4-kinase, type II, gamma (PIP4K2C), transcript variant 2, mRNA.	226	PIPK.					cytoplasm|membrane	1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding|identical protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(13)|pancreas(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	33	Melanoma(17;0.122)					CCTAGTGTCCCGGGAAGCCAG	0.498000														78			4		0	0	0.000157383	0	0
PRRG3	79057	broad.mit.edu	37	X	150869165	150869165	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chrX:150869165G>A	uc022cgt.1	+	3	405	c.356G>A	c.(355-357)cGg>cAg	p.R119Q	PRRG3_uc004few.2_Missense_Mutation_p.R119Q	NM_024082	NP_076987	Q9BZD7	TMG3_HUMAN	Homo sapiens proline rich Gla (G-carboxyglutamic acid) 3 (transmembrane) (PRRG3), transcript variant 1, mRNA.	119						extracellular region|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(3)|prostate(2)|skin(3)	24	Acute lymphoblastic leukemia(192;6.56e-05)					GCTCAGAACCGGTACCTAGCC	0.632000														92			28		0	0	0.000720815	0	0
ABI3BP	25890	broad.mit.edu	37	3	100570746	100570746	+	Nonsense_Mutation	SNP	C	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr3:100570746C>A	uc003dun.3	-	12	1283	c.1198G>T	c.(1198-1200)Gag>Tag	p.E400*	ABI3BP_uc003duo.2_Nonsense_Mutation_p.E442*	NM_015429	NP_056244	Q7Z7G0	TARSH_HUMAN	Homo sapiens ABI family, member 3 (NESH) binding protein (ABI3BP), mRNA.	400						extracellular space				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						ATCTCAGGCTCATCTGATGTT	0.348000														30			7		1.6384e-10	3.2143e-09	8.12818e-05	1	0
AGMO	392636	broad.mit.edu	37	7	15240953	15240953	+	Missense_Mutation	SNP	C	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr7:15240953C>A	uc003stb.1	-	12	1465	c.1295G>T	c.(1294-1296)gGa>gTa	p.G432V		NM_001004320	NP_001004320	Q6ZNB7	ALKMO_HUMAN	Homo sapiens alkylglycerol monooxygenase (AGMO), mRNA.	432					ether lipid metabolic process|fatty acid biosynthetic process|membrane lipid metabolic process	endoplasmic reticulum membrane|integral to membrane	glyceryl-ether monooxygenase activity|iron ion binding			breast(1)|kidney(1)|large_intestine(6)|liver(1)|lung(30)|prostate(1)|skin(2)	42						GCTTCTAACTCCCCAGAAAGC	0.323000														127			8		0.000274275	0.00385584	0.000274275	1	0
MNX1	3110	broad.mit.edu	37	7	156799208	156799208	+	Nonsense_Mutation	SNP	C	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr7:156799208C>A	uc003wnd.1	-	1	1120	c.817G>T	c.(817-819)Gag>Tag	p.E273*	MNX1_uc003wmz.3_Intron|MNX1_uc003wna.3_Intron|MNX1_uc003wnc.1_Nonsense_Mutation_p.E61*|MNX1_uc022aqk.1_Non-coding_Transcript|MNX1_uc010lqr.1_Intron	NM_005515	NP_005506	P50219	MNX1_HUMAN	Homo sapiens motor neuron and pancreas homeobox 1 (MNX1), transcript variant 1, mRNA.	273					humoral immune response|regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(1)|lung(4)|skin(1)	7	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00301)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GTGGCCACCTCGAAGCGCTTG	0.677000														40			4		8.12818e-05	0.00127893	8.12818e-05	1	0
SDC3	9672	broad.mit.edu	37	1	31347401	31347401	+	Missense_Mutation	SNP	C	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:31347401C>A	uc001bse.2	-	3	952	c.905G>T	c.(904-906)cGg>cTg	p.R302L	SDC3_uc001bsd.2_Missense_Mutation_p.R244L	NM_014654	NP_055469	O75056	SDC3_HUMAN	Homo sapiens syndecan 3 (SDC3), mRNA.	302	Ser/Thr-rich (mucin-like).					integral to membrane	cytoskeletal protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Myeloproliferative disorder(586;0.0393)|Colorectal(325;0.0466)|all_neural(195;0.0966)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)		STAD - Stomach adenocarcinoma(196;0.0197)|READ - Rectum adenocarcinoma(331;0.0649)		TGGCTCATCCCGGATTGTGGT	0.587000														96			5		0.000274275	0.00385584	0.000274275	1	0
GREM1	26585	broad.mit.edu	37	15	33023301	33023301	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr15:33023301C>T	uc001zhe.2	+	1	569	c.410C>T	c.(409-411)tCc>tTc	p.S137F	GREM1_uc010uby.2_Missense_Mutation_p.S96F|GREM1_uc001zhd.2_Missense_Mutation_p.S67F|GREM1_uc021sio.1_Missense_Mutation_p.S137F	NM_013372	NP_037504	O60565	GREM1_HUMAN	Homo sapiens gremlin 1 (GREM1), transcript variant 1, mRNA.	137	CTCK.				negative regulation of BMP signaling pathway|nervous system development|regulation of epithelial to mesenchymal transition	extracellular space	cytokine activity	p.S137Y(2)		breast(1)|endometrium(1)|large_intestine(1)|lung(6)|prostate(1)	10		all_lung(180;1.49e-09)		all cancers(64;2.97e-18)|Epithelial(43;3.15e-12)|GBM - Glioblastoma multiforme(186;2.32e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0107)		GAGGAAGGTTCCTTTCAGTCC	0.522000														63			14		0	0	0.000308642	0	0
PCDH18	54510	broad.mit.edu	37	4	138442438	138442438	+	Silent	SNP	C	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr4:138442438C>T	uc003ihe.4	-	3	3540	c.3153G>A	c.(3151-3153)caG>caA	p.Q1051Q	PCDH18_uc003ihf.4_Silent_p.Q1043Q|PCDH18_uc011cgz.2_Silent_p.Q262Q|PCDH18_uc003ihg.4_Silent_p.Q830Q|PCDH18_uc011cha.2_Silent_p.Q231Q	NM_019035	NP_061908	Q9HCL0	PCD18_HUMAN	Homo sapiens protocadherin 18 (PCDH18), mRNA.	1051	Interaction with DAB1 (By similarity).				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					CCGCTACCCCCTGTGGGTAAC	0.562000														50			10		0	0	0.000673444	0	0
AHNAK2	113146	broad.mit.edu	37	14	105412383	105412383	+	Silent	SNP	A	G	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr14:105412383A>G	uc010axc.1	-	6	9525	c.9405T>C	c.(9403-9405)gaT>gaC	p.D3135D	AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Silent_p.D3035D	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	3135						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TGGCAGTCACATCCTTGTCGG	0.592000														80			5		0	0	0.000157383	0	0
BET1	10282	broad.mit.edu	37	7	93625600	93625601	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr7:93625600_93625601GG>TT	uc003unf.1	-	2	339_340	c.177_178CC>AA	c.(175-180)acccag>acAAag	p.Q60K	BET1_uc003une.4_Non-coding_Transcript	NM_005868	NP_005859	O15155	BET1_HUMAN	Homo sapiens blocked early in transport 1 homolog (S. cerevisiae) (BET1), mRNA.	60	t-SNARE coiled-coil homology.				ER to Golgi vesicle-mediated transport|protein transport	Golgi membrane|endoplasmic reticulum membrane|integral to membrane	protein binding			large_intestine(2)|lung(1)|prostate(1)|skin(1)	5	all_cancers(62;2.22e-10)|all_epithelial(64;1.38e-09)|Lung NSC(181;0.218)	Breast(660;0.000162)|Ovarian(593;0.000626)	STAD - Stomach adenocarcinoma(171;0.000967)			AATTTATTCTGGGTTTTAACTT	0.252000														276			15		0	0	6.4e-05	0	0
CYC1	1537	broad.mit.edu	37	8	145152211	145152211	+	Missense_Mutation	SNP	G	C	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr8:145152211G>C	uc003zaz.4	+	6	993	c.950G>C	c.(949-951)cGg>cCg	p.R317P	CYC1_uc003zay.3_Missense_Mutation_p.R258P	NM_001916	NP_001907	P08574	CY1_HUMAN	Homo sapiens cytochrome c-1 (CYC1), nuclear gene encoding mitochondrial protein, mRNA.	317					respiratory electron transport chain|transport	cell junction|integral to membrane|mitochondrial inner membrane|respiratory chain	electron transporter, transferring electrons from CoQH2-cytochrome c reductase complex and cytochrome c oxidase complex activity|heme binding	p.R317R(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)	15	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;8.71e-40)|all cancers(56;3e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CTGAAGAGTCGGAAGCTGGCA	0.572000														62			4		0	0	0.000157383	0	0
BACH2	60468	broad.mit.edu	37	6	90642470	90642470	+	Missense_Mutation	SNP	C	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr6:90642470C>A	uc011eab.2	-	8	3057	c.2183G>T	c.(2182-2184)cGg>cTg	p.R728L	BACH2_uc003pnw.3_Missense_Mutation_p.R728L	NM_021813	NP_068585	Q9BYV9	BACH2_HUMAN	Homo sapiens BTB and CNC homology 1, basic leucine zipper transcription factor 2 (BACH2), transcript variant 1, mRNA.	728						nucleus	protein dimerization activity|sequence-specific DNA binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	45		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)		AGGGCAATACCGATGCAGGGC	0.587000														64			5		8.12818e-05	0.00127893	8.12818e-05	1	0
C1orf51	148523	broad.mit.edu	37	1	150256877	150256877	+	Missense_Mutation	SNP	C	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:150256877C>A	uc001euj.3	+	2	933	c.484C>A	c.(484-486)Cag>Aag	p.Q162K	C1orf51_uc001euh.3_Missense_Mutation_p.Q162K|C1orf51_uc001eui.3_Missense_Mutation_p.Q74K	NM_144697	NP_653298	Q8N365	CA051_HUMAN	Homo sapiens chromosome 1 open reading frame 51 (C1orf51), mRNA.	162										endometrium(3)|large_intestine(2)|lung(3)|urinary_tract(2)	10	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			GGACAGGATCCAGCGTATTGT	0.463000														177			8		2.27111e-07	4.29882e-06	0.00010058	1	0
KDM4B	23030	broad.mit.edu	37	19	5082444	5082444	+	Missense_Mutation	SNP	G	C	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr19:5082444G>C	uc010xim.2	+	7	955	c.847G>C	c.(847-849)Ggg>Cgg	p.G283R	KDM4B_uc010xil.1_Missense_Mutation_p.G283R|KDM4B_uc002mbq.4_Missense_Mutation_p.G283R|KDM4B_uc002mbr.4_Missense_Mutation_p.G41R	NM_015015	NP_055830	O94953	KDM4B_HUMAN	Homo sapiens lysine (K)-specific demethylase 4B (KDM4B), mRNA.	283	JmjC.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(1)|liver(1)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						CTTCAATCACGGGTTCAACTG	0.582000														42			3		0	0	0.00024832	0	0
NOM1	64434	broad.mit.edu	37	7	156759009	156759009	+	Silent	SNP	C	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr7:156759009C>A	uc003wmy.3	+	7	2094	c.2079C>A	c.(2077-2079)ctC>ctA	p.L693L		NM_138400	NP_612409	Q5C9Z4	NOM1_HUMAN	Homo sapiens nucleolar protein with MIF4G domain 1 (NOM1), mRNA.	693	MI.				RNA metabolic process	nucleolus	protein binding			endometrium(5)|kidney(4)|large_intestine(9)|lung(7)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	31	Ovarian(565;0.218)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00301)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		TTCACGTTCTCATGGATTGCT	0.418000														163			8		0.000673444	0.00850193	0.000673444	1	0
IGHMBP2	3508	broad.mit.edu	37	11	68704052	68704052	+	Silent	SNP	C	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr11:68704052C>T	uc001ook.1	+	12	2206	c.2104C>T	c.(2104-2106)Ctg>Ttg	p.L702L	IGHMBP2_uc001ool.1_Silent_p.L326L|IGHMBP2_uc001oom.1_Silent_p.L280L	NM_002180	NP_002171	P38935	SMBP2_HUMAN	Homo sapiens immunoglobulin mu binding protein 2 (IGHMBP2), mRNA.	702					DNA recombination|DNA repair|DNA replication|cell death|protein homooligomerization|transcription, DNA-dependent|translation	axon|growth cone|nucleus|ribonucleoprotein complex	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' RNA helicase activity|ribosome binding|single-stranded DNA binding|tRNA binding|transcription factor binding|zinc ion binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|liver(1)|lung(15)|ovary(2)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			TGGGAAGTCTCTGGCCTCTGA	0.652000														42			6		0	0	0.000157383	0	0
FRMD3	257019	broad.mit.edu	37	9	85928663	85928663	+	Splice_Site	SNP	C	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr9:85928663C>A	uc004ams.2	-	7	799	c.597_splice	c.e7-1	p.R199_splice	FRMD3_uc004amr.1_Splice_Site_p.R199_splice|FRMD3_uc022bja.1_Splice_Site_p.R155_splice|FRMD3_uc022biz.1_Splice_Site_p.R5_splice	NM_174938	NP_777598	A2A2Y4	FRMD3_HUMAN	Homo sapiens FERM domain containing 3 (FRMD3), transcript variant 1, mRNA.	199	FERM.					cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane	cytoskeletal protein binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	30						GCTCTGCCCCCTAAAATCACA	0.428000														114			7		0.000673444	0.00850193	0.000673444	1	0
TBC1D9	23158	broad.mit.edu	37	4	141591977	141591977	+	Missense_Mutation	SNP	C	G	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr4:141591977C>G	uc010ioj.3	-	6	1435	c.1163G>C	c.(1162-1164)aGa>aCa	p.R388T		NM_015130	NP_055945	Q6ZT07	TBCD9_HUMAN	Homo sapiens TBC1 domain family, member 9 (with GRAM domain) (TBC1D9), mRNA.	388						intracellular	Rab GTPase activator activity|calcium ion binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				TAGAAAGTCTCTATCTTTCAA	0.438000														150			6		0	0	3.59834e-05	0	0
KRR1	11103	broad.mit.edu	37	12	75897745	75897745	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr12:75897745G>A	uc001sxt.3	-	6	811	c.770C>T	c.(769-771)cCa>cTa	p.P257L	KRR1_uc009zsc.3_Intron	NM_007043	NP_008974	Q13601	KRR1_HUMAN	Homo sapiens KRR1, small subunit (SSU) processome component, homolog (yeast) (KRR1), mRNA.	257	Lys-rich.				rRNA processing	nucleolus|ribonucleoprotein complex	RNA binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(1)|ovary(1)|pancreas(1)|urinary_tract(1)	11						TTTTTTCTTTGGTTCCTTGCG	0.358000														95			6		0	0	3.59834e-05	0	0
ART3	419	broad.mit.edu	37	4	77033574	77033574	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr4:77033574C>T	uc003hjo.3	+	11	1206	c.1072C>T	c.(1072-1074)Cat>Tat	p.H358Y	ART3_uc003hjk.3_Missense_Mutation_p.H336Y|ART3_uc003hjn.3_Missense_Mutation_p.H347Y|ART3_uc003hjp.3_Non-coding_Transcript|ART3_uc010ijb.3_Non-coding_Transcript|ART3_uc003hjq.3_Non-coding_Transcript|ART3_uc003hjr.3_Missense_Mutation_p.H339Y|ART3_uc010ijc.3_Missense_Mutation_p.H317Y|ART3_uc010ijd.3_Missense_Mutation_p.H317Y	NM_001130016	NP_001123488	Q13508	NAR3_HUMAN	Homo sapiens ADP-ribosyltransferase 3 (ART3), transcript variant 1, mRNA.	358					protein ADP-ribosylation	anchored to membrane|integral to plasma membrane	NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAD+ ADP-ribosyltransferase activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|stomach(1)	16			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			TCCCAAAAGCCATCCTTCTGC	0.418000														106			5		0	0	0.000602214	0	0
TNXB	7148	broad.mit.edu	37	6	32010288	32010288	+	Missense_Mutation	SNP	G	C	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr6:32010288G>C	uc003nzl.2	-	39	12350	c.12148C>G	c.(12148-12150)Cgc>Ggc	p.R4050G	TNXB_uc003nzg.1_Missense_Mutation_p.R481G|TNXB_uc003nzh.1_Missense_Mutation_p.R519G	NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	4097	Fibronectin type-III 32.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GGCCGCTCGCGGTTGCCGTTG	0.672000														214			7		0	0	0.000274275	0	0
LYST	1130	broad.mit.edu	37	1	235929509	235929509	+	Silent	SNP	T	C	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:235929509T>C	uc001hxj.2	-	20	6166	c.5991A>G	c.(5989-5991)gcA>gcG	p.A1997A	LYST_uc009xgb.1_Intron|LYST_uc010pxs.1_Non-coding_Transcript	NM_000081	NP_000072	Q99698	LYST_HUMAN	Homo sapiens lysosomal trafficking regulator (LYST), mRNA.	1997					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding	p.A1997S(1)		NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			CAAGGACTTCTGCTATAATTT	0.363000														242			25		0	0	0.000586117	0	0
SLC24A3	57419	broad.mit.edu	37	20	19677525	19677525	+	Missense_Mutation	SNP	T	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr20:19677525T>A	uc002wrl.3	+	13	1773	c.1576T>A	c.(1576-1578)Tgc>Agc	p.C526S		NM_020689	NP_065740	Q9HC58	NCKX3_HUMAN	Homo sapiens solute carrier family 24 (sodium/potassium/calcium exchanger), member 3 (SLC24A3), mRNA.	526						integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						CGTGCCTGACTGCATGGCCAG	0.592000														37			4		0	0	0.000157383	0	0
PIK3CD	5293	broad.mit.edu	37	1	9782034	9782034	+	Splice_Site	SNP	G	C	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:9782034G>C	uc001aqe.4	+	16	2336	c.2128_splice	c.e16-1	p.G710_splice	PIK3CD_uc001aqb.4_Splice_Site_p.G686_splice|PIK3CD_uc010oaf.2_Splice_Site_p.G685_splice|PIK3CD_uc021ogb.1_Splice_Site_p.G470_splice	NM_005026	NP_005017	O00329	PK3CD_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, delta polypeptide (PIK3CD), mRNA.	686					phosphatidylinositol-mediated signaling|protein phosphorylation	phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31	all_lung(157;0.222)	all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419)		GCCCACCAGGGGGAAGCACTG	0.662000											OREG0013082	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		64			4		0	0	0.00024832	0	0
TMEM65	157378	broad.mit.edu	37	8	125343006	125343007	+	Missense_Mutation	DNP	GG	TC	TC			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr8:125343006_125343007GG>TC	uc010mdl.3	-	1	873_874	c.331_332CC>GA	c.(331-333)cca>GAa	p.P111E		NM_194291	NP_919267	Q6PI78	TMM65_HUMAN	Homo sapiens transmembrane protein 65 (TMEM65), mRNA.	111						integral to membrane				cervix(1)|endometrium(1)|large_intestine(2)|lung(1)|prostate(1)	6	Lung NSC(37;1.18e-11)|Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			CAGCTGTCCTGGGGTGGGTGGT	0.361000														74			6		0	0	6.4e-05	0	0
TMEM45A	55076	broad.mit.edu	37	3	100277322	100277322	+	Silent	SNP	C	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr3:100277322C>T	uc003dua.1	+	4	724	c.525C>T	c.(523-525)gtC>gtT	p.V175V	TMEM45A_uc003dtz.1_Silent_p.V159V	NM_018004	NP_060474	Q9NWC5	TM45A_HUMAN	Homo sapiens transmembrane protein 45A (TMEM45A), mRNA.	159						integral to membrane				breast(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)	11						TGGTTTTGGTCGTCTTTCTGA	0.483000														91			19		0	0	0.000132079	0	0
SBK1	388228	broad.mit.edu	37	16	28330377	28330377	+	Silent	SNP	G	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr16:28330377G>A	uc002dpd.3	+	2	1077	c.288G>A	c.(286-288)cgG>cgA	p.R96R		NM_001024401	NP_001019572	Q52WX2	SBK1_HUMAN	Homo sapiens SH3-binding domain kinase 1 (SBK1), mRNA.	96	Protein kinase.					cytoplasm	ATP binding|protein serine/threonine kinase activity			kidney(1)|lung(3)|ovary(1)	5						ACTTCCTACGGGAGGTGAGCA	0.517000														143			29		0	0	0.00058488	0	0
CR2	1380	broad.mit.edu	37	1	207640102	207640102	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:207640102C>T	uc001hfw.3	+	1	409	c.290C>T	c.(289-291)cCa>cTa	p.P97L	CR2_uc001hfv.3_Missense_Mutation_p.P97L|CR2_uc009xch.3_Missense_Mutation_p.P97L	NM_001877	NP_001868	P20023	CR2_HUMAN	Homo sapiens complement component (3d/Epstein Barr virus) receptor 2 (CR2), transcript variant 2, mRNA.	97	Sushi 2.				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity			NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						CCCATAGTACCAGGAGGATAC	0.398000														70			9		0	0	0.000442599	0	0
IL6ST	3572	broad.mit.edu	37	5	55237587	55237587	+	Missense_Mutation	SNP	C	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr5:55237587C>A	uc003jqq.3	-	16	2393	c.2080G>T	c.(2080-2082)Gtg>Ttg	p.V694L	IL6ST_uc003jqp.3_3'UTR|IL6ST_uc010iwd.3_Missense_Mutation_p.V13L|IL6ST_uc011cqk.2_Missense_Mutation_p.V405L|IL6ST_uc003jqr.3_3'UTR|IL6ST_uc010iwb.3_Missense_Mutation_p.V633L	NM_002184	NP_002175	P40189	IL6RB_HUMAN	Homo sapiens interleukin 6 signal transducer (gp130, oncostatin M receptor) (IL6ST), transcript variant 1, mRNA.	694					interleukin-6-mediated signaling pathway|leukemia inhibitory factor signaling pathway|negative regulation of interleukin-6-mediated signaling pathway|positive regulation of T cell proliferation|positive regulation of anti-apoptosis|positive regulation of cardiac muscle hypertrophy|positive regulation of osteoblast differentiation|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation vascular endothelial growth factor production	ciliary neurotrophic factor receptor complex|extracellular region|extracellular space|interleukin-6 receptor complex|oncostatin-M receptor complex	ciliary neurotrophic factor receptor activity|ciliary neurotrophic factor receptor binding|growth factor binding|protein homodimerization activity			breast(2)|endometrium(5)|kidney(5)|large_intestine(4)|liver(2)|lung(1)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223)				TCTATTTCCACAACACTTACA	0.323000			O		hepatocellular ca									175			8		1.12685e-05	0.000194597	0.000274275	1	0
RGS3	5998	broad.mit.edu	37	9	116299110	116299110	+	Nonsense_Mutation	SNP	C	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr9:116299110C>A	uc004bhq.3	+	19	2158	c.1949C>A	c.(1948-1950)tCg>tAg	p.S650*	RGS3_uc004bhr.3_Nonsense_Mutation_p.S538*|RGS3_uc004bhs.3_Nonsense_Mutation_p.S540*|RGS3_uc004bht.3_Nonsense_Mutation_p.S369*|RGS3_uc010muy.3_Nonsense_Mutation_p.S369*|RGS3_uc004bhu.3_Nonsense_Mutation_p.S276*|RGS3_uc004bhv.3_5'UTR	NM_144488	NP_652759	P49796	RGS3_HUMAN	Homo sapiens regulator of G-protein signaling 3 (RGS3), transcript variant 6, mRNA.	650					inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	cytosol|nucleus|plasma membrane	GTPase activator activity|signal transducer activity			cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						GAAGCGCACTCGCAGGAGCAG	0.587000														101			7		7.48243e-07	1.38262e-05	0.000442599	1	0
HEATR7B2	133558	broad.mit.edu	37	5	41008722	41008722	+	Silent	SNP	G	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr5:41008722G>A	uc003jmj.4	-	32	4084	c.3594C>T	c.(3592-3594)atC>atT	p.I1198I	HEATR7B2_uc003jmi.4_Silent_p.I753I	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA.	1198							binding			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|liver(1)|lung(81)|ovary(6)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(4)	133						AGGGGTCTGGGATCTGCTGCT	0.567000														38			7		0	0	0.000274275	0	0
CDH3	1001	broad.mit.edu	37	16	68712430	68712430	+	Silent	SNP	C	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr16:68712430C>A	uc002ewf.2	+	4	1549	c.417C>A	c.(415-417)acC>acA	p.T139T	CDH3_uc010vli.1_Silent_p.T84T	NM_001793	NP_001784	P22223	CADH3_HUMAN	Homo sapiens cadherin 3, type 1, P-cadherin (placental) (CDH3), mRNA.	139	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion|response to stimulus|visual perception	integral to membrane	calcium ion binding	p.?(2)		NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(3)|skin(1)|urinary_tract(1)	25		Ovarian(137;0.0564)		OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384)		ATAGAGACACCAAGATTTTCT	0.488000														165			10		3.86212e-05	0.000634077	0.000673444	1	0
CNKSR3	154043	broad.mit.edu	37	6	154762499	154762499	+	Missense_Mutation	SNP	C	G	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr6:154762499C>G	uc021zhc.1	-	3	939	c.434G>C	c.(433-435)gGg>gCg	p.G145A	CNKSR3_uc003qpy.3_Missense_Mutation_p.G145A	NM_173515	NP_775786	Q6P9H4	CNKR3_HUMAN	Homo sapiens CNKSR family member 3 (CNKSR3), mRNA.	145	CRIC.				negative regulation of ERK1 and ERK2 cascade|negative regulation of peptidyl-serine phosphorylation|positive regulation of sodium ion transport	cytoplasm|membrane				breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	15		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;5.03e-11)|BRCA - Breast invasive adenocarcinoma(81;0.00627)		ATCAGTGATCCCTGTAAACGG	0.458000														100			6		0	0	3.59834e-05	0	0
NEXN	91624	broad.mit.edu	37	1	78392511	78392511	+	Silent	SNP	T	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:78392511T>A	uc001dic.4	+	7	1095	c.798T>A	c.(796-798)gcT>gcA	p.A266A	NEXN_uc001dia.3_Silent_p.A252A|NEXN_uc009wcb.1_Silent_p.A188A|NEXN_uc001dib.4_Silent_p.A202A|NEXN_uc001did.1_Silent_p.A176A|NEXN_uc001dif.1_Silent_p.A158A	NM_144573	NP_653174	Q0ZGT2	NEXN_HUMAN	Homo sapiens nexilin (F actin binding protein) (NEXN), transcript variant 1, mRNA.	266	Glu-rich.				regulation of cell migration|regulation of cytoskeleton organization	Z disc|cytoskeleton	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)		AGAAGCAAGCTGAAGAGGAAG	0.358000														173			13		0	0	0.000219431	0	0
RXRG	6258	broad.mit.edu	37	1	165377466	165377466	+	Missense_Mutation	SNP	G	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:165377466G>T	uc001gda.3	-	7	1598	c.1136C>A	c.(1135-1137)cCa>cAa	p.P379Q	RXRG_uc021pea.1_Missense_Mutation_p.P256Q	NM_006917	NP_008848	P48443	RXRG_HUMAN	Homo sapiens retinoid X receptor, gamma (RXRG), transcript variant 1, mRNA.	379	Ligand-binding (By similarity).				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			endometrium(1)|kidney(3)|large_intestine(6)|lung(22)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	38	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)				Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tretinoin(DB00755)	GCGGTTACCTGGGTTAAAGAG	0.517000														79			7		2.0095e-06	3.62695e-05	8.12818e-05	1	0
KIF5B	3799	broad.mit.edu	37	10	32310028	32310028	+	Missense_Mutation	SNP	C	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr10:32310028C>A	uc001iwe.4	-	18	2596	c.2126G>T	c.(2125-2127)aGa>aTa	p.R709I		NM_004521	NP_004512	P33176	KINH_HUMAN	Homo sapiens kinesin family member 5B (KIF5B), mRNA.	709					stress granule disassembly|vesicle transport along microtubule	kinesin complex|microtubule|perinuclear region of cytoplasm|vesicle	ATP binding|microtubule binding|microtubule motor activity		KIF5B/ALK(8)|KIF5B/RET(79)	NS(2)|breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)	35		Prostate(175;0.0137)				ATGAGTTTCTCTATGGCTCTG	0.333000			T	"""RET, ALK"""	NSCLC									237			13		1.5739e-10	3.09209e-09	0.000422831	1	0
SCPEP1	59342	broad.mit.edu	37	17	55075781	55075781	+	Silent	SNP	C	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr17:55075781C>A	uc002iuv.4	+	9	969	c.916C>A	c.(916-918)Cga>Aga	p.R306R	SCPEP1_uc010dcl.3_Non-coding_Transcript|SCPEP1_uc010wnk.2_Silent_p.R256R	NM_021626	NP_067639	Q9HB40	RISC_HUMAN	Homo sapiens serine carboxypeptidase 1 (SCPEP1), mRNA.	306					proteolysis	extracellular region	serine-type carboxypeptidase activity	p.R306Q(1)		endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|skin(2)	14	Breast(9;2.86e-08)					ACACCTACAACGAGATGCCTT	0.438000														120			6		0.000157383	0.00233702	0.000157383	1	0
LHFPL2	10184	broad.mit.edu	37	5	77805809	77805809	+	Silent	SNP	G	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr5:77805809G>A	uc003kfo.3	-	3	904	c.228C>T	c.(226-228)ttC>ttT	p.F76F		NM_005779	NP_005770	Q6ZUX7	LHPL2_HUMAN	Homo sapiens lipoma HMGIC fusion partner-like 2 (LHFPL2), mRNA.	76						integral to membrane				endometrium(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	6		all_lung(232;0.000409)|Lung NSC(167;0.00108)|Ovarian(174;0.0107)|Prostate(461;0.218)		OV - Ovarian serous cystadenocarcinoma(54;6.48e-46)|Epithelial(54;8.43e-42)|all cancers(79;1.42e-36)		TGTCCCGCTGGAAGTGCTGCA	0.697000														42			7		0	0	8.12818e-05	0	0
PLA2G7	7941	broad.mit.edu	37	6	46682199	46682199	+	Missense_Mutation	SNP	G	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr6:46682199G>T	uc010jzf.3	-	4	737	c.468C>A	c.(466-468)ttC>ttA	p.F156L	PLA2G7_uc021zae.1_Missense_Mutation_p.F156L|PLA2G7_uc011dwd.1_Missense_Mutation_p.F111L|PLA2G7_uc011dwe.1_Missense_Mutation_p.F29L	NM_005084	NP_005075	Q13093	PAFA_HUMAN	Homo sapiens phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma) (PLA2G7), transcript variant 1, mRNA.	156					inflammatory response|lipid catabolic process	extracellular space	1-alkyl-2-acetylglycerophosphocholine esterase activity|phospholipid binding			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|skin(1)|soft_tissue(1)	14			Lung(136;0.192)			AACATTACCTGAATGCCCCAA	0.398000														190			9		0.000151284	0.00233702	0.000151284	1	0
GKAP1	80318	broad.mit.edu	37	9	86356937	86356937	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr9:86356937G>A	uc004amy.3	-	11	1479	c.983C>T	c.(982-984)tCa>tTa	p.S328L	GKAP1_uc004amz.3_Missense_Mutation_p.S277L	NM_025211	NP_079487	Q5VSY0	GKAP1_HUMAN	Homo sapiens G kinase anchoring protein 1 (GKAP1), transcript variant 1, mRNA.	328					signal transduction	Golgi apparatus				endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)	14						AGCATGAAGTGAAGTCACCTA	0.299000														65			19		0	0	0.00047179	0	0
CLU	1191	broad.mit.edu	37	8	27464035	27464035	+	Missense_Mutation	SNP	G	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr8:27464035G>T	uc003xfy.2	-	3	433	c.286C>A	c.(286-288)Cta>Ata	p.L96I	CLU_uc003xfw.2_Missense_Mutation_p.L85I|CLU_uc003xfx.2_Missense_Mutation_p.L85I|CLU_uc003xfz.2_Missense_Mutation_p.L85I	NM_001831	NP_001822	P10909	CLUS_HUMAN	Homo sapiens clusterin (CLU), transcript variant 1, mRNA.	85					chaperone-mediated protein folding|complement activation, classical pathway|innate immune response|lipid metabolic process|negative regulation of apoptosis|negative regulation of protein homooligomerization|platelet activation|platelet degranulation|positive regulation of NF-kappaB transcription factor activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|response to misfolded protein|response to virus|reverse cholesterol transport	chromaffin granule|cytosol|endoplasmic reticulum|microsome|mitochondrial membrane|nucleus|perinuclear region of cytoplasm|platelet alpha granule lumen|spherical high-density lipoprotein particle	misfolded protein binding|ubiquitin protein ligase binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)	21		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|Colorectal(74;0.132)		GTCTCATTTAGGGCATCCTAC	0.572000														94			6		0.000157383	0.00233702	0.000157383	1	0
CCDC146	57639	broad.mit.edu	37	7	76888342	76888342	+	Missense_Mutation	SNP	G	C	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr7:76888342G>C	uc003uga.3	+	6	842	c.715G>C	c.(715-717)Gta>Cta	p.V239L	CCDC146_uc010ldp.3_5'Flank	NM_020879	NP_065930	Q8IYE0	CC146_HUMAN	Homo sapiens coiled-coil domain containing 146 (CCDC146), mRNA.	239										breast(3)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	34		all_cancers(73;0.128)|all_lung(88;0.0986)|all_epithelial(88;0.163)|Myeloproliferative disorder(862;0.205)				AACCATTCCAGTACAAATTGG	0.343000														88			4		0	0	0.00024832	0	0
BAZ1A	11177	broad.mit.edu	37	14	35270308	35270308	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr14:35270308T>C	uc001wsk.3	-	7	1521	c.953A>G	c.(952-954)aAg>aGg	p.K318R	BAZ1A_uc001wsl.3_Missense_Mutation_p.K318R|BAZ1A_uc001wsm.1_Missense_Mutation_p.K318R	NM_013448	NP_038476	Q9NRL2	BAZ1A_HUMAN	Homo sapiens bromodomain adjacent to zinc finger domain, 1A (BAZ1A), transcript variant 1, mRNA.	318					chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ACF complex	zinc ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(2)|large_intestine(7)|lung(19)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	Breast(36;0.0388)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;7.23e-05)|Lung(238;0.00019)|Epithelial(34;0.0793)|all cancers(34;0.175)	GBM - Glioblastoma multiforme(112;0.0659)		ACCCAGTGACTTCATTTCTTC	0.353000														88			11		0	0	6.40141e-05	0	0
NOP10	55505	broad.mit.edu	37	15	34635361	34635361	+	Splice_Site	SNP	C	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr15:34635361C>T	uc001zie.1	-	1	1	c.-87_splice	c.e1-1		C15orf55_uc010ucc.2_5'Flank|C15orf55_uc010ucd.2_5'Flank|C15orf55_uc001zif.3_5'Flank	NM_018648	NP_061118	Q9NPE3	NOP10_HUMAN	Homo sapiens NOP10 ribonucleoprotein homolog (yeast) (NOP10), mRNA.						pseudouridine synthesis|rRNA processing	Cajal body|nucleolus|small nucleolar ribonucleoprotein complex	protein binding			lung(1)|ovary(1)	2						CGTCAATTTCCTTCCTGCATA	0.542000											OREG0023034	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		36			6		0	0	3.59834e-05	0	0
ZC3H7A	29066	broad.mit.edu	37	16	11858939	11858939	+	Missense_Mutation	SNP	G	C	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr16:11858939G>C	uc002dbk.3	-	13	1988	c.1790C>G	c.(1789-1791)cCg>cGg	p.P597R	ZC3H7A_uc002dbj.3_Non-coding_Transcript|ZC3H7A_uc002dbl.3_Missense_Mutation_p.P597R|ZC3H7A_uc002dbm.2_Missense_Mutation_p.P507R	NM_014153	NP_054872	Q8IWR0	Z3H7A_HUMAN	Homo sapiens zinc finger CCCH-type containing 7A (ZC3H7A), mRNA.	597						nucleus	nucleic acid binding|zinc ion binding	p.P597T(1)		breast(2)|endometrium(3)|kidney(5)|large_intestine(2)|liver(1)|lung(3)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(2)	25						CTTTGTAACCGGGTGAGAACA	0.284000														186			9		0	0	0.00010058	0	0
NF1	4763	broad.mit.edu	37	17	29679308	29679308	+	Silent	SNP	C	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr17:29679308C>A	uc002hgg.3	+	50	7874	c.7491C>A	c.(7489-7491)ccC>ccA	p.P2497P	NF1_uc002hgh.3_Silent_p.P2476P|NF1_uc010cso.3_Silent_p.P685P|NF1_uc010wbt.1_Intron|NF1_uc010wbu.1_Non-coding_Transcript	NM_001042492	NP_001035957	P21359	NF1_HUMAN	Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.	2497					MAPKKK cascade|Ras protein signal transduction|actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|metanephros development|myelination in peripheral nervous system|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	Ras GTPase activator activity|protein binding	p.0?(8)|p.?(3)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		GGTCCTCTCCCAAAGGTTCTG	0.478000			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				71			7		1.58986e-06	2.88444e-05	0.000673444	1	0
MEGF8	1954	broad.mit.edu	37	19	42867352	42867352	+	Missense_Mutation	SNP	C	G	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr19:42867352C>G	uc002otl.4	+	33	6645	c.6010C>G	c.(6010-6012)Ctg>Gtg	p.L2004V	MEGF8_uc002otm.4_Missense_Mutation_p.L1612V	NM_001410	NP_001401	Q7Z7M0	MEGF8_HUMAN	Homo sapiens multiple EGF-like-domains 8 (MEGF8), mRNA.	2071						integral to membrane	calcium ion binding|structural molecule activity			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				TACCTCCTGCCTGGACTCTAA	0.637000														18			3		0	0	3.59834e-05	0	0
DOCK8	81704	broad.mit.edu	37	9	463586	463586	+	Silent	SNP	C	A	A	rs139515839	byFrequency	TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr9:463586C>A	uc003zgf.2	+	46	6250	c.6138C>A	c.(6136-6138)ctC>ctA	p.L2046L	DOCK8_uc022bcu.1_Silent_p.L1978L|DOCK8_uc010mgv.3_Silent_p.L1946L|DOCK8_uc010mgu.3_Silent_p.L1348L|DOCK8_uc003zgk.2_Silent_p.L1504L	NM_203447	NP_001180465	Q8NF50	DOCK8_HUMAN	Homo sapiens dedicator of cytokinesis 8 (DOCK8), transcript variant 1, mRNA.	2046				L -> F (in Ref. 8; AAG42221).	blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		AGCAGGAACTCAAAAAGAACT	0.413000														67			7		8.12818e-05	0.00127893	8.12818e-05	1	0
SMCR7L	54471	broad.mit.edu	37	22	39907868	39907868	+	Silent	SNP	G	T	T	rs144509053	byFrequency	TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr22:39907868G>T	uc003axw.3	+	3	656	c.159G>T	c.(157-159)gcG>gcT	p.A53A	SMCR7L_uc010gxz.1_5'UTR|SMCR7L_uc003axx.3_Silent_p.A53A|SMCR7L_uc003axy.3_5'UTR	NM_019008	NP_061881	Q9NQG6	SMC7L_HUMAN	Homo sapiens Smith-Magenis syndrome chromosome region, candidate 7-like (SMCR7L), nuclear gene encoding mitochondrial protein, mRNA.	53						integral to membrane|mitochondrion				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|liver(1)|lung(6)|ovary(1)|skin(1)	16	Melanoma(58;0.04)					ACGATCGGGCGATCAGTGCCC	0.557000														74			13		2.61681e-11	5.14824e-10	0.000219431	1	0
SLC27A6	28965	broad.mit.edu	37	5	128302275	128302275	+	Missense_Mutation	SNP	C	G	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr5:128302275C>G	uc003kuy.3	+	1	841	c.445C>G	c.(445-447)Cgc>Ggc	p.R149G	SLC27A6_uc003kuz.3_Missense_Mutation_p.R149G	NM_014031	NP_054750	Q9Y2P4	S27A6_HUMAN	Homo sapiens solute carrier family 27 (fatty acid transporter), member 6 (SLC27A6), transcript variant 1, mRNA.	149					long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process	integral to membrane|sarcolemma	fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding	p.R149S(2)|p.R149H(1)		NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		GAATTGCATCCGCGCCTGTGG	0.587000														42			4		0	0	0.000602214	0	0
DUS1L	64118	broad.mit.edu	37	17	80022817	80022817	+	Missense_Mutation	SNP	C	G	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr17:80022817C>G	uc002kdq.3	-	0	538	c.119G>C	c.(118-120)gGg>gCg	p.G40A	DUS1L_uc002kdp.3_5'Flank|DUS1L_uc002kdr.3_Missense_Mutation_p.G40A|DUS1L_uc010wvi.1_Missense_Mutation_p.G40A	NM_022156	NP_071439	Q6P1R4	DUS1L_HUMAN	Homo sapiens dihydrouridine synthase 1-like (S. cerevisiae) (DUS1L), mRNA.	40					tRNA processing		flavin adenine dinucleotide binding|tRNA dihydrouridine synthase activity			breast(1)|endometrium(1)|lung(2)|ovary(1)|skin(1)	6	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211)			GAGCTGTGCCCCGTGGCGCCG	0.682000														44			4		0	0	0.000602214	0	0
TOP2B	7155	broad.mit.edu	37	3	25657016	25657016	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr3:25657016G>A	uc011awn.1	-	25	3456	c.3413C>T	c.(3412-3414)cCt>cTt	p.P1138L	TOP2B_uc003cdj.2_Missense_Mutation_p.P1133L|TOP2B_uc021wug.1_Missense_Mutation_p.P1133L|TOP2B_uc011awm.1_5'UTR|TRNA_uc021wuh.1_5'Flank	NM_001068	NP_001059	Q02880	TOP2B_HUMAN	Homo sapiens topoisomerase (DNA) II beta 180kDa (TOP2B), mRNA.	1138					DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|resolution of meiotic recombination intermediates|sister chromatid segregation	DNA topoisomerase complex (ATP-hydrolyzing)|WINAC complex|cytosol|nucleolus|nucleoplasm|synaptonemal complex	ATP binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|chromatin binding|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|skin(2)|stomach(1)	36						TGGGCCTGAAGGAGTTCCTGA	0.333000														31			7		0	0	8.12818e-05	0	0
ALPK2	115701	broad.mit.edu	37	18	56204264	56204264	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr18:56204264G>A	uc002lhj.4	-	4	3369	c.3155C>T	c.(3154-3156)cCt>cTt	p.P1052L	ALPK2_uc002lhk.1_Missense_Mutation_p.P383L	NM_052947	NP_443179	Q86TB3	ALPK2_HUMAN	Homo sapiens alpha-kinase 2 (ALPK2), mRNA.	1052							ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						CACTTGGGAAGGAAATTGGGA	0.493000														102			25		0	0	0.000720815	0	0
NXPH3	11248	broad.mit.edu	37	17	47656118	47656118	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr17:47656118C>T	uc002ipa.3	+	1	499	c.215C>T	c.(214-216)cCt>cTt	p.P72L		NM_007225	NP_009156	O95157	NXPH3_HUMAN	Homo sapiens neurexophilin 3 (NXPH3), mRNA.	72	II.				neuropeptide signaling pathway	extracellular region		p.P71P(3)		endometrium(2)|large_intestine(3)|lung(4)|pancreas(1)|skin(2)	12	all_cancers(4;7.45e-14)|Breast(4;1.08e-27)|all_epithelial(4;2.27e-17)					CTGGCCCCGCCTGGGGAGGCT	0.682000														73			6		0	0	3.59834e-05	0	0
UBTFL1	642623	broad.mit.edu	37	11	89819453	89819453	+	Silent	SNP	G	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr11:89819453G>A	uc010rub.2	+	0	336	c.336G>A	c.(334-336)aaG>aaA	p.K112K		NM_001143975	NP_001137447	P0CB47	UBFL1_HUMAN	Homo sapiens upstream binding transcription factor, RNA polymerase I-like 1 (UBTFL1), mRNA.	112					multicellular organismal development	cytoplasm|nucleus	DNA binding										GCTTCTTCAAGGAGAGTTGGC	0.448000														17			6		0	0	3.59834e-05	0	0
TMCO7	79613	broad.mit.edu	37	16	69007972	69007972	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr16:69007972C>T	uc002ewi.4	+	14	2755	c.2743C>T	c.(2743-2745)Ccg>Tcg	p.P915S		NM_024562	NP_078838	Q9C0B7	TMCO7_HUMAN	Homo sapiens transmembrane and coiled-coil domains 7 (TMCO7), mRNA.	915						integral to membrane	binding			endometrium(4)|kidney(2)|large_intestine(1)|lung(11)|prostate(2)	20		Ovarian(137;0.0568)		OV - Ovarian serous cystadenocarcinoma(108;0.0446)|Epithelial(162;0.198)		GAAAATCTTGCCGGACTTGTT	0.453000														24			4		0	0	0.00024832	0	0
abParts	0	broad.mit.edu	37	22	22664186	22664186	+	RNA	SNP	A	G	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr22:22664186A>G	uc021wml.1	+	31		c.2628A>G			abParts_uc011aiq.1_Non-coding_Transcript					Parts of antibodies, mostly variable regions.																		CAGATCAAGAAAGCACTCTGA	0.498000														106			5		0	0	0.00010058	0	0
HCK	3055	broad.mit.edu	37	20	30671706	30671706	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr20:30671706C>T	uc002wxh.3	+	6	779	c.542C>T	c.(541-543)tCt>tTt	p.S181F	HCK_uc010gdy.3_Missense_Mutation_p.S161F|HCK_uc021wbv.1_Missense_Mutation_p.S160F|HCK_uc002wxi.3_Missense_Mutation_p.S159F	NM_001172133	NP_001165604	P08631	HCK_HUMAN	Homo sapiens hemopoietic cell kinase (HCK), transcript variant 4, mRNA.	181	SH2.				interspecies interaction between organisms|mesoderm development|regulation of defense response to virus by virus|viral reproduction	caveola|cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(4)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			GGAAGCTACTCTTTGTCCGTG	0.547000														81			20		0	0	0.000132079	0	0
UGGT2	55757	broad.mit.edu	37	13	96622510	96622510	+	Missense_Mutation	SNP	C	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr13:96622510C>A	uc001vmt.3	-	11	1361	c.1191G>T	c.(1189-1191)ttG>ttT	p.L397F		NM_020121	NP_064506	Q9NYU1	UGGG2_HUMAN	Homo sapiens UDP-glucose glycoprotein glucosyltransferase 2 (UGGT2), mRNA.	397					post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding	ER-Golgi intermediate compartment|endoplasmic reticulum lumen	UDP-glucose:glycoprotein glucosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2)	60						TCAGCATATCCAAAATACTAT	0.259000														351			14		0.000422831	0.00580232	0.000422831	1	0
PRSS38	339501	broad.mit.edu	37	1	228033728	228033728	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:228033728G>A	uc001hrh.3	+	4	800	c.800G>A	c.(799-801)cGa>cAa	p.R267Q		NM_183062	NP_898885	A1L453	PRS38_HUMAN	Homo sapiens protease, serine, 38 (PRSS38), mRNA.	267	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						AGCTGGGGCCGAGGCTGCTCC	0.512000														65			14		0	0	0.000151284	0	0
CRHR2	1395	broad.mit.edu	37	7	30706899	30706899	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr7:30706899C>T	uc003tbn.3	-	2	505	c.260G>A	c.(259-261)gGg>gAg	p.G87E	CRHR2_uc010kvw.2_Missense_Mutation_p.G87E|CRHR2_uc010kvx.2_Missense_Mutation_p.G87E|CRHR2_uc022abg.1_Non-coding_Transcript|CRHR2_uc010kvy.2_Intron|CRHR2_uc003tbo.3_Missense_Mutation_p.G73E|CRHR2_uc003tbp.3_Missense_Mutation_p.G114E	NM_001883	NP_001874	Q13324	CRFR2_HUMAN	Homo sapiens corticotropin releasing hormone receptor 2 (CRHR2), transcript variant 1, mRNA.	87					G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	corticotrophin-releasing factor receptor activity|protein binding	p.G87E(2)|p.G73E(1)		breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						GGCCCACGTCCCATTCTCCAA	0.542000														75			10		0	0	0.000442599	0	0
FAM160A2	84067	broad.mit.edu	37	11	6239229	6239229	+	Silent	SNP	G	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr11:6239229G>A	uc001mck.4	-	8	1988	c.1629C>T	c.(1627-1629)tcC>tcT	p.S543S	FAM160A2_uc001mcl.4_Silent_p.S529S|FAM160A2_uc001mcm.2_Silent_p.S529S	NM_032127	NP_115503	Q8N612	F16A2_HUMAN	Homo sapiens family with sequence similarity 160, member A2 (FAM160A2), transcript variant 1, mRNA.	529					early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|protein transport	FHF complex	protein binding	p.S543F(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TGGAGGCGGGGGATGCAGAAA	0.647000														36			4		0	0	0.00024832	0	0
ALKBH2	121642	broad.mit.edu	37	12	109530566	109530566	+	Missense_Mutation	SNP	G	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr12:109530566G>T	uc001tnx.2	-	1	419	c.26C>A	c.(25-27)gCt>gAt	p.A9D	ALKBH2_uc001tny.2_Missense_Mutation_p.A9D|ALKBH2_uc010sxj.1_Missense_Mutation_p.A9D|ALKBH2_uc009zvd.2_Missense_Mutation_p.A9D|ALKBH2_uc010sxk.1_Missense_Mutation_p.A9D	NM_001145374	NP_001138847	Q6NS38	ALKB2_HUMAN	Homo sapiens alkB, alkylation repair homolog 2 (E. coli) (ALKBH2), transcript variant 1, mRNA.	9					DNA dealkylation involved in DNA repair|oxidative DNA demethylation	nucleoplasm	DNA-N1-methyladenine dioxygenase activity|cytosine C-5 DNA demethylase activity|damaged DNA binding|ferrous iron binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.A9V(2)		endometrium(1)|kidney(3)|large_intestine(1)|lung(3)	8					Vitamin C(DB00126)	GCCCCCTTGAGCCCCTTTCAC	0.552000								Direct reversal of damage						162			7		0.000673444	0.00850193	0.000673444	1	0
C19orf46	163183	broad.mit.edu	37	19	36499142	36499142	+	Missense_Mutation	SNP	G	C	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr19:36499142G>C	uc002ocq.1	-	1	345	c.256C>G	c.(256-258)Cca>Gca	p.P86A	C19orf46_uc021utd.1_Missense_Mutation_p.P86A|C19orf46_uc002ocr.1_Missense_Mutation_p.P86A|C19orf46_uc002ocs.1_Missense_Mutation_p.P86A|C19orf46_uc010een.1_Intron	NM_001039876	NP_001034965	Q8N205	SYNE4_HUMAN	Homo sapiens chromosome 19 open reading frame 46 (C19orf46), mRNA.	86					establishment of epithelial cell apical/basal polarity	integral to nuclear outer membrane	actin binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	8	all_lung(56;1.35e-06)|Lung NSC(56;2.15e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			CCCCCAGCTGGGTCCTCGTAG	0.642000														33			3		0	0	6.4e-05	0	0
PNMA3	29944	broad.mit.edu	37	X	152226003	152226003	+	Silent	SNP	C	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chrX:152226003C>A	uc022cho.1	+	0	591	c.591C>A	c.(589-591)ccC>ccA	p.P197P	PNMA3_uc004fhc.2_Silent_p.P197P|PNMA3_uc004fhd.3_5'Flank	NM_013364	NP_037496	Q9UL41	PNMA3_HUMAN	Homo sapiens paraneoplastic antigen MA3 (PNMA3), mRNA.	197					apoptosis	nucleolus	nucleic acid binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	16	Acute lymphoblastic leukemia(192;6.56e-05)					ggcaggtgcccgagggggaaa	0.577000														125			7		2.17888e-05	0.000371685	0.000442599	1	0
GPRC6A	222545	broad.mit.edu	37	6	117114203	117114203	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr6:117114203C>T	uc003pxj.1	-	5	1905	c.1883G>A	c.(1882-1884)gGg>gAg	p.G628E	GPRC6A_uc003pxk.1_Missense_Mutation_p.G453E|GPRC6A_uc003pxl.1_Missense_Mutation_p.G557E	NM_148963	NP_683766	Q5T6X5	GPC6A_HUMAN	Homo sapiens G protein-coupled receptor, family C, group 6, member A (GPRC6A), mRNA.	628					response to amino acid stimulus		G-protein coupled receptor activity			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		TCTTAATCCCCCGGATGATTT	0.413000														42			6		0	0	3.59834e-05	0	0
FBXO40	51725	broad.mit.edu	37	3	121341728	121341728	+	Missense_Mutation	SNP	G	C	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr3:121341728G>C	uc003eeg.2	+	2	1662	c.1452G>C	c.(1450-1452)agG>agC	p.R484S		NM_016298	NP_057382	Q9UH90	FBX40_HUMAN	Homo sapiens F-box protein 40 (FBXO40), mRNA.	484					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)		AATTCTTCAGGAGGGATGAGT	0.537000														70			4		0	0	0.00024832	0	0
FOCAD	54914	broad.mit.edu	37	9	20990196	20990196	+	Silent	SNP	C	G	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr9:20990196C>G	uc003zog.1	+	43	5442	c.5079C>G	c.(5077-5079)ctC>ctG	p.L1693L	FOCAD_uc003zoh.1_Silent_p.L1129L	NM_017794	NP_060264	Q5VW36	K1797_HUMAN	Homo sapiens KIAA1797 (KIAA1797), mRNA.	1693						integral to membrane	binding										CTCTCCTCCTCGGCCTCAGTG	0.547000														51			4		0	0	0.00024832	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140719905	140719905	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr5:140719905C>T	uc003ljk.2	+	0	1552	c.1367C>T	c.(1366-1368)tCc>tTc	p.S456F	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc011dao.2_Missense_Mutation_p.S456F	NM_018915	NP_061738	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 2 (PCDHGA2), transcript variant 1, mRNA.	458	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCCGCACATCCTACTCCACC	0.557000														155			16		0	0	0.000308642	0	0
ZNF107	51427	broad.mit.edu	37	7	64169007	64169007	+	Silent	SNP	C	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr7:64169007C>T	uc003ttd.3	+	6	3111	c.2325C>T	c.(2323-2325)ccC>ccT	p.P775P	ZNF107_uc003tte.3_Silent_p.P775P	NM_016220	NP_057304	Q9UII5	ZN107_HUMAN	Homo sapiens zinc finger protein 107 (ZNF107), transcript variant 1, mRNA.	775					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(18)|ovary(1)|stomach(1)	37		Lung NSC(55;0.00948)|all_lung(88;0.0249)				GAGAGAAACCCTACAAATGTG	0.353000														46			4		0	0	0.00024832	0	0
SPTAN1	6709	broad.mit.edu	37	9	131344084	131344084	+	Missense_Mutation	SNP	G	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr9:131344084G>T	uc004bvl.4	+	11	1627	c.1485G>T	c.(1483-1485)ttG>ttT	p.L495F	SPTAN1_uc011mbg.2_Missense_Mutation_p.L495F|SPTAN1_uc011mbh.2_Missense_Mutation_p.L507F|SPTAN1_uc004bvm.4_Missense_Mutation_p.L495F|SPTAN1_uc004bvn.4_Missense_Mutation_p.L495F	NM_003127	NP_003118	Q13813	SPTA2_HUMAN	Homo sapiens spectrin, alpha, non-erythrocytic 1 (alpha-fodrin) (SPTAN1), transcript variant 2, mRNA.	495					actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						ATGAAGACTTGGGAGATTCCT	0.423000														287			12		0.000422831	0.00580232	0.000422831	1	0
RPS7	6201	broad.mit.edu	37	2	3628456	3628456	+	Missense_Mutation	SNP	C	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr2:3628456C>A	uc002qxw.3	+	6	675	c.569C>A	c.(568-570)cCa>cAa	p.P190Q	RPS7_uc002qxy.3_Non-coding_Transcript	NM_001011	NP_001002	P62081	RS7_HUMAN	Homo sapiens ribosomal protein S7 (RPS7), mRNA.	190					endocrine pancreas development|rRNA processing|ribosomal small subunit biogenesis|translational elongation|translational termination|viral transcription	90S preribosome|cytosolic small ribosomal subunit|nucleolus|small-subunit processome	RNA binding|protein binding|structural constituent of ribosome			endometrium(1)|lung(2)|urinary_tract(1)	4	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)			OV - Ovarian serous cystadenocarcinoma(76;0.0963)|Epithelial(75;0.208)		TTTGAATTCCCAGAGTTTCAA	0.313000														90			6		0.000442599	0.00580232	0.000442599	1	0
DSCAM	1826	broad.mit.edu	37	21	42080618	42080618	+	Silent	SNP	C	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr21:42080618C>T	uc002yyq.1	-	1	575	c.123G>A	c.(121-123)ggG>ggA	p.G41G	DSCAM_uc002yyr.1_Non-coding_Transcript	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.	41	Ig-like C2-type 1.				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)				GCACCAGAGTCCCCGTGGTGC	0.577000														103			19		0	0	0.000586117	0	0
NIN	51199	broad.mit.edu	37	14	51243741	51243741	+	Missense_Mutation	SNP	G	C	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr14:51243741G>C	uc001wyi.3	-	6	783	c.592C>G	c.(592-594)Cgt>Ggt	p.R198G	NIN_uc001wyj.3_Non-coding_Transcript|NIN_uc001wym.2_Missense_Mutation_p.R198G|NIN_uc001wyk.3_Missense_Mutation_p.R198G|NIN_uc001wyo.3_Missense_Mutation_p.R198G|NIN_uc001wyp.1_Missense_Mutation_p.R160G	NM_020921	NP_065972	Q8N4C6	NIN_HUMAN	Homo sapiens ninein (GSK3B interacting protein) (NIN), transcript variant 2, mRNA.	198	EF-hand 3.				centrosome localization	centrosome|microtubule	GTP binding|calcium ion binding|protein binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					TGACCATCACGGGTGATCCCC	0.478000			T	PDGFRB	MPD									85			5		0	0	8.12818e-05	0	0
CAND2	23066	broad.mit.edu	37	3	12859029	12859029	+	Silent	SNP	C	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr3:12859029C>T	uc003bxk.2	+	9	2647	c.2598C>T	c.(2596-2598)ctC>ctT	p.L866L	CAND2_uc003bxj.2_Silent_p.L773L	NM_001162499	NP_001155971	O75155	CAND2_HUMAN	Homo sapiens cullin-associated and neddylation-dissociated 2 (putative) (CAND2), transcript variant 1, mRNA.	866					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(8)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						AGGCGGTGCTCCTGGAAGCTT	0.667000														62			6		0	0	3.59834e-05	0	0
HECTD1	25831	broad.mit.edu	37	14	31638563	31638563	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr14:31638563G>A	uc001wrc.1	-	8	1933	c.1444C>T	c.(1444-1446)Cca>Tca	p.P482S	HECTD1_uc001wrd.1_5'Flank	NM_015382	NP_056197	Q9ULT8	HECD1_HUMAN	Homo sapiens HECT domain containing 1 (HECTD1), mRNA.	482					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		CTCTCACCTGGAGACTGAAGA	0.393000														98			15		0	0	0.00074312	0	0
SKIV2L2	23517	broad.mit.edu	37	5	54635985	54635985	+	Silent	SNP	G	T	T	rs142953160		TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr5:54635985G>T	uc003jpy.4	+	5	929	c.663G>T	c.(661-663)acG>acT	p.T221T	SKIV2L2_uc011cqi.2_Silent_p.T120T	NM_015360	NP_056175	P42285	SK2L2_HUMAN	Homo sapiens superkiller viralicidic activity 2-like 2 (S. cerevisiae) (SKIV2L2), mRNA.	221	Helicase ATP-binding.				maturation of 5.8S rRNA	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			NS(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194)				TTAATCCTACGGCATCTTGTC	0.368000														117			6		0.000442599	0.00580232	0.000442599	1	0
PTBP3	9991	broad.mit.edu	37	9	114989824	114989824	+	Silent	SNP	G	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr9:114989824G>T	uc004bfv.3	-	11	1516	c.1333C>A	c.(1333-1335)Cga>Aga	p.R445R	MIR3134_uc022bma.1_Intron|PTBP3_uc004bfx.3_Silent_p.R442R|PTBP3_uc004bfw.3_Silent_p.R439R|PTBP3_uc011lwu.2_Silent_p.R411R|PTBP3_uc004bfz.3_Silent_p.R411R|PTBP3_uc004bfy.3_Silent_p.R344R	NM_001244898	NP_001231827	O95758	ROD1_HUMAN	Homo sapiens polypyrimidine tract binding protein 3 (PTBP3), transcript variant 6, mRNA.	439					anatomical structure morphogenesis|mRNA processing	nucleus	RNA binding|nucleotide binding										TGTCCCTCTCGAGGAAGCTGT	0.443000														81			6		5.18039e-06	9.16098e-05	0.000157383	1	0
DNAH11	8701	broad.mit.edu	37	7	21655874	21655874	+	Silent	SNP	G	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr7:21655874G>T	uc003svc.3	+	21	4090	c.4059G>T	c.(4057-4059)gtG>gtT	p.V1353V		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA.	1353	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						AGATTCATGTGGAACAGATGG	0.408000									Kartagener syndrome					63			6		0.000157383	0.00233702	0.000157383	1	0
ARL13A	392509	broad.mit.edu	37	X	100229165	100229165	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chrX:100229165C>T	uc004ego.3	+	2	225	c.109C>T	c.(109-111)Ctt>Ttt	p.L37F	ARL13A_uc011mrf.2_Missense_Mutation_p.L37F|ARL13A_uc010nng.3_Missense_Mutation_p.L37F	NM_001012990	NP_001013008	Q5H913	AR13A_HUMAN	Homo sapiens ADP-ribosylation factor-like 13A (ARL13A), transcript variant 2, mRNA.	37							GTP binding			endometrium(1)|ovary(1)	2						CAAAACTGTTCTTGTGGAGGC	0.413000														29			8		0	0	6.40141e-05	0	0
RNF145	153830	broad.mit.edu	37	5	158603839	158603839	+	Missense_Mutation	SNP	A	G	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr5:158603839A>G	uc010jiq.2	-	4	662	c.512T>C	c.(511-513)aTg>aCg	p.M171T	RNF145_uc011ddy.2_Missense_Mutation_p.M155T|RNF145_uc003lxo.2_Missense_Mutation_p.M169T|RNF145_uc011ddz.2_Missense_Mutation_p.M158T|RNF145_uc003lxp.3_Missense_Mutation_p.M141T|RNF145_uc011dea.2_Missense_Mutation_p.M157T	NM_001199380	NP_001186309	Q96MT1	RN145_HUMAN	Homo sapiens ring finger protein 145 (RNF145), transcript variant 1, mRNA.	141						integral to membrane	zinc ion binding	p.M169T(4)		endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CTTTGTTTTCATGACACAGGA	0.363000														32			7		0	0	0.000274275	0	0
SCML4	256380	broad.mit.edu	37	6	108042076	108042076	+	Silent	SNP	G	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr6:108042076G>A	uc010kdf.3	-	5	1055	c.804C>T	c.(802-804)taC>taT	p.Y268Y	SCML4_uc003prz.4_Silent_p.Y210Y|SCML4_uc011eam.1_Silent_p.Y268Y|SCML4_uc003pry.4_Silent_p.Y26Y|SCML4_uc003psa.3_Silent_p.Y239Y	NM_198081	NP_932347	Q8N228	SCML4_HUMAN	Homo sapiens sex comb on midleg-like 4 (Drosophila) (SCML4), mRNA.	268					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			endometrium(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(1)	25		all_cancers(87;3.26e-06)|Acute lymphoblastic leukemia(125;3.08e-08)|all_hematologic(75;1.15e-06)|all_epithelial(87;0.00142)|Colorectal(196;0.0316)		BRCA - Breast invasive adenocarcinoma(108;0.01)|Epithelial(106;0.0509)|all cancers(137;0.0586)|OV - Ovarian serous cystadenocarcinoma(136;0.0758)		GCCTCTTGCAGTACAGCGAGG	0.637000														51			7		0	0	0.000157383	0	0
MOSPD2	158747	broad.mit.edu	37	X	14930468	14930468	+	Missense_Mutation	SNP	C	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chrX:14930468C>A	uc004cwi.3	+	9	1101	c.977C>A	c.(976-978)cCc>cAc	p.P326H	MOSPD2_uc004cwj.3_Missense_Mutation_p.P263H	NM_152581	NP_001170946	Q8NHP6	MSPD2_HUMAN	Homo sapiens motile sperm domain containing 2 (MOSPD2), transcript variant 1, mRNA.	326						integral to membrane	structural molecule activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	Hepatocellular(33;0.183)					TTTAAAGGCCCCTTACTACAC	0.323000														83			6		3.59834e-05	0.000594959	3.59834e-05	1	0
DNAH2	146754	broad.mit.edu	37	17	7644256	7644256	+	Silent	SNP	C	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr17:7644256C>A	uc002giu.1	+	9	1649	c.1635C>A	c.(1633-1635)tcC>tcA	p.S545S	DNAH2_uc002git.3_Silent_p.S627S|DNAH2_uc010vuk.2_Silent_p.S545S	NM_020877	NP_065928	Q9P225	DYH2_HUMAN	Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA.	545	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CCCAGTATTCCGGAAAGGCGC	0.582000														109			6		0.000157383	0.00233702	0.000157383	1	0
OR10A2	341276	broad.mit.edu	37	11	6891192	6891192	+	Silent	SNP	G	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr11:6891192G>T	uc001meu.1	+	0	207	c.207G>T	c.(205-207)ctG>ctT	p.L69L		NM_001004460	NP_001004460	Q9H208	O10A2_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily A, member 2 (OR10A2), mRNA.	69					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L69L(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(12)|urinary_tract(1)	24		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.89e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		CCAAAATGCTGGGGACCCTGC	0.507000														130			16		7.45023e-12	1.4678e-10	0.000175454	1	0
C17orf70	80233	broad.mit.edu	37	17	79517359	79517359	+	Silent	SNP	C	G	G	rs112195664		TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr17:79517359C>G	uc002kaq.3	-	2	1234	c.1161G>C	c.(1159-1161)ccG>ccC	p.P387P	C17orf70_uc002kao.1_5'Flank|C17orf70_uc010wuq.1_Non-coding_Transcript|C17orf70_uc002kap.3_Silent_p.P236P	NM_025161	NP_079437	Q0VG06	FP100_HUMAN	Homo sapiens chromosome 17 open reading frame 70 (C17orf70), transcript variant 2, mRNA.	387					DNA repair	cytoplasm|intermediate filament cytoskeleton|nucleoplasm	DNA binding			breast(1)|central_nervous_system(1)|endometrium(1)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	19	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371)			GCAGGCCTCCCGGGCCTTCTT	0.662000														88			4		0	0	0.00024832	0	0
PCDHB2	56133	broad.mit.edu	37	5	140476430	140476430	+	Missense_Mutation	SNP	G	A	A	rs61742377	byFrequency	TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr5:140476430G>A	uc003lil.3	+	0	2194	c.2056G>A	c.(2056-2058)Gac>Aac	p.D686N	PCDHB2_uc003lim.1_Missense_Mutation_p.D347N	NM_018936	NP_061759	Q9Y5E7	PCDB2_HUMAN	Homo sapiens protocadherin beta 2 (PCDHB2), mRNA.	686					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGCCCAGGCCGACTTGCTCAC	0.697000														184			26		0	0	0.000184323	0	0
CASKIN1	57524	broad.mit.edu	37	16	2230323	2230323	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr16:2230323C>T	uc010bsg.1	-	17	3078	c.3046G>A	c.(3046-3048)Ggg>Agg	p.G1016R		NM_020764	NP_065815	Q8WXD9	CSKI1_HUMAN	Homo sapiens CASK interacting protein 1 (CASKIN1), mRNA.	1016	Pro-rich.				signal transduction	cytoplasm				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|liver(1)|lung(7)|ovary(4)|prostate(5)|skin(3)	28						GCCCGGCCCCCACCCCCAATG	0.731000														5			3		0	0	0.00024832	0	0
PDHA1	5160	broad.mit.edu	37	X	19373504	19373504	+	Nonsense_Mutation	SNP	G	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chrX:19373504G>A	uc004czg.4	+	6	786	c.641G>A	c.(640-642)tGg>tAg	p.W214*	PDHA1_uc004czh.4_Nonsense_Mutation_p.W252*|PDHA1_uc011mjc.2_Nonsense_Mutation_p.W221*|PDHA1_uc011mjd.2_Nonsense_Mutation_p.W183*|PDHA1_uc010nfl.3_Nonsense_Mutation_p.W5*	NM_000284	NP_000275	P08559	ODPA_HUMAN	Homo sapiens pyruvate dehydrogenase (lipoamide) alpha 1 (PDHA1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	214					glycolysis|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	protein binding|pyruvate dehydrogenase (acetyl-transferring) activity			endometrium(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)	18	Hepatocellular(33;0.183)				NADH(DB00157)	GCAGCTTTGTGGAAATTACCT	0.443000														197			26		0	0	0.000491102	0	0
WDR44	54521	broad.mit.edu	37	X	117528104	117528104	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chrX:117528104G>A	uc004eqn.3	+	4	1344	c.913G>A	c.(913-915)Gat>Aat	p.D305N	WDR44_uc004eqo.3_Missense_Mutation_p.D305N|WDR44_uc011mtr.2_Missense_Mutation_p.D280N|WDR44_uc010nqi.3_Missense_Mutation_p.D15N	NM_019045	NP_061918	Q5JSH3	WDR44_HUMAN	Homo sapiens WD repeat domain 44 (WDR44), transcript variant 1, mRNA.	305						Golgi apparatus|cytosol|endosome membrane|perinuclear region of cytoplasm				breast(4)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	33						GCCTTCTCTTGATTTGGCAAG	0.423000														125			20		0	0	0.000375601	0	0
KALRN	8997	broad.mit.edu	37	3	124132403	124132403	+	Missense_Mutation	SNP	G	C	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr3:124132403G>C	uc003ehg.3	+	13	2554	c.2427G>C	c.(2425-2427)caG>caC	p.Q809H	KALRN_uc010hrv.1_Missense_Mutation_p.Q809H|KALRN_uc003ehf.1_Missense_Mutation_p.Q809H|KALRN_uc011bjy.1_Missense_Mutation_p.Q809H|KALRN_uc003ehh.1_Missense_Mutation_p.Q155H	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	Homo sapiens kalirin, RhoGEF kinase (KALRN), transcript variant 1, mRNA.	809					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						TGGCAGAACAGCGGCTGCAGC	0.542000														55			4		0	0	0.00024832	0	0
FAM123B	139285	broad.mit.edu	37	X	63411447	63411447	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chrX:63411447G>A	uc022byb.1	-	0	1720	c.1720C>T	c.(1720-1722)Cgg>Tgg	p.R574W	FAM123B_uc004dvo.3_Missense_Mutation_p.R574W	NM_152424	NP_689637	Q5JTC6	F123B_HUMAN	Homo sapiens family with sequence similarity 123B (FAM123B), mRNA.	574					Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane		p.0?(67)		NS(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(132)|large_intestine(35)|liver(1)|lung(33)|ovary(5)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	225						TGCTCCCGCCGAAGCTCCCAA	0.592000														82			6		0	0	3.59834e-05	0	0
SERPINC1	462	broad.mit.edu	37	1	173876605	173876605	+	Missense_Mutation	SNP	G	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:173876605G>T	uc001gjt.3	-	5	1320	c.1201C>A	c.(1201-1203)Cat>Aat	p.H401N		NM_000488	NP_000479	P01008	ANT3_HUMAN	Homo sapiens serpin peptidase inhibitor, clade C (antithrombin), member 1 (SERPINC1), mRNA.	401					blood coagulation|regulation of proteolysis	extracellular space|plasma membrane	heparin binding|protease binding|serine-type endopeptidase inhibitor activity			NS(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(15)|ovary(1)	25					Enoxaparin(DB01225)|Fondaparinux sodium(DB00569)|Heparin(DB01109)	AATGCCTTATGGAATGCATCT	0.483000														212			13		0.000132079	0.00207121	0.000132079	1	0
INTS8	55656	broad.mit.edu	37	8	95835714	95835714	+	Missense_Mutation	SNP	C	G	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr8:95835714C>G	uc003yhb.3	+	0	181	c.55C>G	c.(55-57)Ccg>Gcg	p.P19A	INTS8_uc003yha.1_Missense_Mutation_p.P19A|INTS8_uc011lgq.2_Non-coding_Transcript|INTS8_uc011lgr.2_Non-coding_Transcript	NM_017864	NP_060334	Q75QN2	INT8_HUMAN	Homo sapiens integrator complex subunit 8 (INTS8), mRNA.	19					snRNA processing	integrator complex	protein binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	28	Breast(36;1.05e-06)					GCCCTGCACCCCGCCGCAGAC	0.721000														51			4		0	0	8.12818e-05	0	0
RECK	8434	broad.mit.edu	37	9	36118755	36118755	+	Splice_Site	SNP	C	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr9:36118755C>T	uc003zyv.3	+	18	2340	c.2254_splice	c.e18-1	p.P752_splice	RECK_uc003zyw.3_Splice_Site_p.P624_splice|RECK_uc003zyx.3_Splice_Site	NM_021111	NP_066934	O95980	RECK_HUMAN	Homo sapiens reversion-inducing-cysteine-rich protein with kazal motifs (RECK), mRNA.	752	Kazal-like 2.					anchored to membrane|peripheral to membrane of membrane fraction|plasma membrane	metalloendopeptidase inhibitor activity|serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228)			TGCCCTCAGCCCTTTTGCAGA	0.498000														51			4		0	0	0.00024832	0	0
KCTD8	386617	broad.mit.edu	37	4	44177177	44177177	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr4:44177177G>A	uc003gwu.3	-	1	1336	c.1052C>T	c.(1051-1053)tCc>tTc	p.S351F		NM_198353	NP_938167	Q6ZWB6	KCTD8_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 8 (KCTD8), mRNA.	351						cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(3)|upper_aerodigestive_tract(4)	41						CTCATTACAGGAAGTCCCACT	0.468000										HNSCC(17;0.042)				66			12		0	0	0.00010058	0	0
TAX1BP1	8887	broad.mit.edu	37	7	27856024	27856025	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr7:27856024_27856025CC>AA	uc003szl.3	+	13	2003_2004	c.1821_1822CC>AA	c.(1819-1824)tcccag>tcAAag	p.Q608K	TAX1BP1_uc011jzo.2_Intron|TAX1BP1_uc003szk.3_Intron|TAX1BP1_uc011jzp.2_Intron	NM_006024	NP_006015	Q86VP1	TAXB1_HUMAN	Homo sapiens Tax1 (human T-cell leukemia virus type I) binding protein 1 (TAX1BP1), transcript variant 1, mRNA.	608					anti-apoptosis|apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production	cytosol	identical protein binding|kinase binding|zinc ion binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(8)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31			GBM - Glioblastoma multiforme(3;0.0823)			GTCAGAATTCCCAGAGTCCTCA	0.347000														220			10		0	0	6.4e-05	0	0
APOB	338	broad.mit.edu	37	2	21236133	21236133	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr2:21236133G>A	uc002red.3	-	24	4243	c.4115C>T	c.(4114-4116)tCc>tTc	p.S1372F		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	1372					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	ACCACTGTAGGAGGCGGACCA	0.502000														229			13		0	0	0.000219431	0	0
SYT9	143425	broad.mit.edu	37	11	7334931	7334931	+	Missense_Mutation	SNP	G	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr11:7334931G>T	uc001mfe.3	+	2	1040	c.803G>T	c.(802-804)cGg>cTg	p.R268L	SYT9_uc001mfd.3_Non-coding_Transcript|SYT9_uc009yfi.3_Intron	NM_175733	NP_783860	Q86SS6	SYT9_HUMAN	Homo sapiens synaptotagmin IX (SYT9), mRNA.	268	C2 1.					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			NS(1)|endometrium(2)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	38				Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949)		CTTCCTGATCGGAAAACAAAA	0.433000														165			7		0.000274275	0.00385584	0.000274275	1	0
RAPGEF3	10411	broad.mit.edu	37	12	48145283	48145283	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr12:48145283T>C	uc001rpz.4	-	4	951	c.401A>G	c.(400-402)gAg>gGg	p.E134G	RAPGEF3_uc009zkp.3_Missense_Mutation_p.E92G|RAPGEF3_uc009zkq.3_Missense_Mutation_p.E92G|RAPGEF3_uc009zkr.2_Intron|RAPGEF3_uc009zks.2_Missense_Mutation_p.E146G|RAPGEF3_uc001rqb.3_Missense_Mutation_p.E134G	NM_001098531	NP_006096	A8K2G5	A8K2G5_HUMAN	Homo sapiens Rap guanine nucleotide exchange factor (GEF) 3 (RAPGEF3), transcript variant 1, mRNA.	92					regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex	cAMP-dependent protein kinase regulator activity|guanyl-nucleotide exchange factor activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(7)	25	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.0375)		ATCCACCAGCTCCCGGCCAGA	0.602000														46			3		0	0	0.000602214	0	0
DNAJC11	55735	broad.mit.edu	37	1	6711618	6711618	+	Silent	SNP	G	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:6711618G>T	uc001aof.2	-	6	781	c.675C>A	c.(673-675)ctC>ctA	p.L225L	DNAJC11_uc001aog.2_Silent_p.L225L|DNAJC11_uc010nzu.1_Silent_p.L135L	NM_018198	NP_060668	Q9NVH1	DJC11_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 11 (DNAJC11), mRNA.	225					protein folding		heat shock protein binding|unfolded protein binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)|urinary_tract(1)	32	Ovarian(185;0.0265)|all_lung(157;0.154)	all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649)		GGAACAGCTTGAGACCGAACA	0.438000														56			5		0.000274275	0.00385584	0.000274275	1	0
KIDINS220	57498	broad.mit.edu	37	2	8957756	8957756	+	Missense_Mutation	SNP	G	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr2:8957756G>T	uc002qzc.2	-	3	480	c.298C>A	c.(298-300)Cgt>Agt	p.R100S	KIDINS220_uc010yiv.1_Intron|KIDINS220_uc002qzd.2_Missense_Mutation_p.R58S|KIDINS220_uc010yiw.1_Missense_Mutation_p.R100S	NM_020738	NP_065789	Q9ULH0	KDIS_HUMAN	Homo sapiens kinase D-interacting substrate, 220kDa (KIDINS220), mRNA.	100					activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane		p.R100S(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					ACCATATCACGGTGCTCCAAG	0.328000														99			6		0.000442599	0.00580232	0.000442599	1	0
CACNA1D	776	broad.mit.edu	37	3	53760925	53760925	+	Nonsense_Mutation	SNP	G	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr3:53760925G>A	uc003dgv.4	+	14	2283	c.2120G>A	c.(2119-2121)tGg>tAg	p.W707*	CACNA1D_uc003dgu.4_Nonsense_Mutation_p.W727*|CACNA1D_uc003dgy.4_Nonsense_Mutation_p.W707*|CACNA1D_uc003dgw.4_Nonsense_Mutation_p.W374*	NM_001128840	NP_001122312	Q01668	CAC1D_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1D subunit (CACNA1D), transcript variant 2, mRNA.	707					axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	GGCGAAGACTGGAATGCTGTG	0.517000														140			18		0	0	0.000229342	0	0
COL4A5	1287	broad.mit.edu	37	X	107936108	107936108	+	Missense_Mutation	SNP	G	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chrX:107936108G>T	uc022ccg.1	+	49	4861	c.4659G>T	c.(4657-4659)atG>atT	p.M1553I	COL4A5_uc004enz.1_Missense_Mutation_p.M1547I	NM_033380	NP_203699	P29400	CO4A5_HUMAN	Homo sapiens collagen, type IV, alpha 5 (COL4A5), transcript variant 2, mRNA.	1547	Collagen IV NC1.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding	p.L1552P(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						CCATGCCAATGAGCATGCAAC	0.443000									Alport syndrome with Diffuse Leiomyomatosis					81			7		0.000673444	0.00850193	0.000673444	1	0
MEI1	150365	broad.mit.edu	37	22	42159315	42159315	+	Missense_Mutation	SNP	C	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr22:42159315C>A	uc003baz.1	+	18	2283	c.2258C>A	c.(2257-2259)aCa>aAa	p.T753K	bK250D10.C22.8_uc003bba.1_Intron|MEI1_uc011apd.1_Non-coding_Transcript|MEI1_uc003bbb.1_Missense_Mutation_p.T139K|MEI1_uc003bbc.1_Missense_Mutation_p.T121K|MEI1_uc010gym.1_Missense_Mutation_p.T121K|MEI1_uc003bbd.1_Intron	NM_152513	NP_689726	Q5TIA1	MEI1_HUMAN	Homo sapiens meiosis inhibitor 1 (MEI1), mRNA.	753							binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						AAAGACAATACACTACGTGAG	0.522000											OREG0026596	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		83			5		0.000442599	0.00580232	0.000442599	1	0
CEP70	80321	broad.mit.edu	37	3	138219685	138219685	+	Silent	SNP	C	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr3:138219685C>A	uc003esl.3	-	13	1458	c.1260G>T	c.(1258-1260)ctG>ctT	p.L420L	CEP70_uc011bmk.2_Silent_p.L400L|CEP70_uc011bml.2_Silent_p.L402L|CEP70_uc011bmm.2_Silent_p.L268L|CEP70_uc003esm.3_Silent_p.L420L	NM_024491	NP_077817	Q8NHQ1	CEP70_HUMAN	Homo sapiens centrosomal protein 70kDa (CEP70), mRNA.	420					G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	24						GCCAAGGTACCAGTTCTGCAG	0.279000														434			16		0.000229342	0.00337687	0.000229342	1	0
KIAA0922	23240	broad.mit.edu	37	4	154541932	154541932	+	Missense_Mutation	SNP	A	C	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr4:154541932A>C	uc010ipp.3	+	26	3644	c.3592A>C	c.(3592-3594)Aag>Cag	p.K1198Q	KIAA0922_uc003inm.4_Missense_Mutation_p.K1197Q|KIAA0922_uc010ipq.3_Missense_Mutation_p.K966Q	NM_001131007	NP_001124479	A2VDJ0	T131L_HUMAN	Homo sapiens KIAA0922 (KIAA0922), transcript variant 1, mRNA.	1197						integral to membrane				breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	63	all_hematologic(180;0.093)	Renal(120;0.118)				TAGGAAGAAAAAGCTTCAGGA	0.303000														129			15		0	0	0.000219431	0	0
PGLYRP1	8993	broad.mit.edu	37	19	46522576	46522576	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr19:46522576G>A	uc002pdx.2	-	2	788	c.511C>T	c.(511-513)Cgg>Tgg	p.R171W		NM_005091	NP_005082	O75594	PGRP1_HUMAN	Homo sapiens peptidoglycan recognition protein 1 (PGLYRP1), mRNA.	171					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region	N-acetylmuramoyl-L-alanine amidase activity|bacterial cell surface binding|peptidoglycan receptor activity|zinc ion binding			endometrium(2)|large_intestine(3)|lung(3)|ovary(2)	10		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.0036)|GBM - Glioblastoma multiforme(486;0.022)|Epithelial(262;0.208)		TGCACATCCCGGTGTCCTTTG	0.642000														25			4		0	0	0.00024832	0	0
IL12RB1	3594	broad.mit.edu	37	19	18191769	18191769	+	Silent	SNP	G	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr19:18191769G>A	uc002nhx.1	-	4	453	c.402C>T	c.(400-402)gcC>gcT	p.A134A	IL12RB1_uc002nhw.1_Silent_p.A94A|IL12RB1_uc010xqb.1_Silent_p.A94A|IL12RB1_uc002nhy.3_Silent_p.A94A	NM_005535	NP_005526	P42701	I12R1_HUMAN	Homo sapiens interleukin 12 receptor, beta 1 (IL12RB1), transcript variant 1, mRNA.	94					cellular response to interferon-gamma|interleukin-12-mediated signaling pathway|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|positive regulation of activated T cell proliferation|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of memory T cell differentiation	interleukin-12 receptor complex|interleukin-23 receptor complex	cytokine receptor activity			endometrium(1)|kidney(1)|lung(3)|pancreas(1)|skin(2)	8						GCAGCCTGGTGGCTGAGCCGG	0.637000														69			6		0	0	3.59834e-05	0	0
SYNE1	23345	broad.mit.edu	37	6	152614814	152614814	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr6:152614814G>A	uc021zhb.1	-	92	18144	c.17921C>T	c.(17920-17922)tCc>tTc	p.S5974F	SYNE1_uc003qos.4_Missense_Mutation_p.S498F|SYNE1_uc003qot.4_Missense_Mutation_p.S5903F|SYNE1_uc003qou.4_Missense_Mutation_p.S5974F|SYNE1_uc010kiy.1_Missense_Mutation_p.S149F	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	5974					Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CGTAGAGATGGACTGGAGGGA	0.502000										HNSCC(10;0.0054)				69			10		0	0	0.000442599	0	0
GPATCH1	55094	broad.mit.edu	37	19	33587157	33587157	+	Silent	SNP	C	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr19:33587157C>A	uc002nug.1	+	6	971	c.657C>A	c.(655-657)ccC>ccA	p.P219P		NM_018025	NP_060495	Q9BRR8	GPTC1_HUMAN	Homo sapiens G patch domain containing 1 (GPATCH1), mRNA.	219						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)					CCTTTGCACCCAAAGATGTCA	0.458000														118			9		0.000673444	0.00850193	0.000673444	1	0
ACSM2B	348158	broad.mit.edu	37	16	20563466	20563466	+	Splice_Site	SNP	C	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr16:20563466C>T	uc002dhj.4	-	7	1104	c.894_splice	c.e7+1	p.K298_splice	ACSM2B_uc002dhk.4_Splice_Site_p.K298_splice|ACSM2B_uc010bwf.1_Splice_Site_p.K298_splice	NM_182617	NP_872423	Q68CK6	ACS2B_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 2B (ACSM2B), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	298					fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|CoA-ligase activity|butyrate-CoA ligase activity|metal ion binding			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						CCTCTCTTACCTTTAGAATAA	0.393000														76			13		0	0	0.000308642	0	0
CASK	8573	broad.mit.edu	37	X	41390397	41390397	+	Missense_Mutation	SNP	G	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chrX:41390397G>T	uc004dfk.4	-	19	1954	c.1828C>A	c.(1828-1830)Caa>Aaa	p.Q610K	CASK_uc004dfj.4_Missense_Mutation_p.Q335K|CASK_uc004dfl.4_Missense_Mutation_p.Q790K|CASK_uc004dfm.4_Missense_Mutation_p.Q767K|CASK_uc004dfn.4_Missense_Mutation_p.Q766K	NM_003688	NP_003679	O14936	CSKP_HUMAN	Homo sapiens calcium/calmodulin-dependent serine protein kinase (MAGUK family) (CASK), transcript variant 1, mRNA.	795					cell adhesion	actin cytoskeleton|cytoplasm|nucleus|plasma membrane	ATP binding|calmodulin binding|guanylate kinase activity|protein serine/threonine kinase activity			breast(3)|endometrium(5)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|ovary(3)|prostate(1)|stomach(1)	32						TGCATCATTTGGTCATGAGAT	0.438000														183			10		2.31682e-05	0.000392345	0.000308642	1	0
KDELC2	143888	broad.mit.edu	37	11	108352018	108352018	+	Silent	SNP	G	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr11:108352018G>T	uc001pkj.2	-	4	1053	c.987C>A	c.(985-987)tcC>tcA	p.S329S	KDELC2_uc001pki.2_Silent_p.S273S	NM_153705	NP_714916	Q7Z4H8	KDEL2_HUMAN	Homo sapiens KDEL (Lys-Asp-Glu-Leu) containing 2 (KDELC2), mRNA.	329						endoplasmic reticulum lumen				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	13		all_cancers(61;1.38e-11)|all_epithelial(67;3.16e-07)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;6.93e-06)|BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|all cancers(92;0.00016)|OV - Ovarian serous cystadenocarcinoma(223;0.132)|Colorectal(284;0.14)		GATTTTCTTTGGACAGCTGTA	0.438000														157			13		0.000151284	0.00233702	0.000151284	1	0
NEXN	91624	broad.mit.edu	37	1	78383855	78383855	+	Missense_Mutation	SNP	A	G	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:78383855A>G	uc001dic.4	+	4	641	c.344A>G	c.(343-345)gAg>gGg	p.E115G	NEXN_uc001dia.3_Missense_Mutation_p.E115G|NEXN_uc009wcb.1_Missense_Mutation_p.E51G|NEXN_uc001dib.4_Missense_Mutation_p.E51G|NEXN_uc001did.1_Missense_Mutation_p.E39G|NEXN_uc001dif.1_Missense_Mutation_p.E7G	NM_144573	NP_653174	Q0ZGT2	NEXN_HUMAN	Homo sapiens nexilin (F actin binding protein) (NEXN), transcript variant 1, mRNA.	115	Glu-rich.				regulation of cell migration|regulation of cytoskeleton organization	Z disc|cytoskeleton	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)		CAAAGACAAGAGGAACAAAGG	0.353000														130			6		0	0	3.59834e-05	0	0
PPP1R12A	4659	broad.mit.edu	37	12	80266607	80266607	+	Nonsense_Mutation	SNP	C	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr12:80266607C>A	uc001syz.3	-	1	616	c.349G>T	c.(349-351)Gga>Tga	p.G117*	PPP1R12A_uc010suc.2_Nonsense_Mutation_p.G30*|PPP1R12A_uc001sza.3_Nonsense_Mutation_p.G117*|PPP1R12A_uc010sud.2_Nonsense_Mutation_p.G117*|PPP1R12A_uc001szb.3_Nonsense_Mutation_p.G117*|PPP1R12A_uc001szc.2_Nonsense_Mutation_p.G117*	NM_002480	NP_001137358	O14974	MYPT1_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 12A (PPP1R12A), transcript variant 1, mRNA.	117						contractile fiber	protein binding|signal transducer activity	p.G117V(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|liver(1)|lung(4)|ovary(2)|skin(1)	29						TCAAGATATCCACAGGAAGCT	0.348000														98			7		6.40141e-05	0.00103518	6.40141e-05	1	0
OR56A3	390083	broad.mit.edu	37	11	5969438	5969438	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr11:5969438C>T	uc010qzt.2	+	0	862	c.862C>T	c.(862-864)Cct>Tct	p.P288S		NM_001003443	NP_001003443	Q8NH54	O56A3_HUMAN	Homo sapiens olfactory receptor, family 56, subfamily A, member 3 (OR56A3), mRNA.	288					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(27)|stomach(1)|upper_aerodigestive_tract(1)	41		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCATGTCATTCCTGCAGCCCT	0.483000														89			11		0	0	0.000673444	0	0
OSBPL1A	114876	broad.mit.edu	37	18	21894247	21894247	+	Missense_Mutation	SNP	C	A	A	rs34322486		TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr18:21894247C>A	uc002kve.3	-	11	1152	c.935G>T	c.(934-936)cGg>cTg	p.R312L	OSBPL1A_uc010xbc.2_5'Flank|OSBPL1A_uc002kvf.3_Missense_Mutation_p.R92L	NM_080597	NP_542164	Q9BXW6	OSBL1_HUMAN	Homo sapiens oxysterol binding protein-like 1A (OSBPL1A), transcript variant 2, mRNA.	312	PH.				cholesterol metabolic process|lipid transport|vesicle-mediated transport		phospholipid binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)					CTTAGGAACCCGGAAGCCATG	0.358000														125			9		0.000673444	0.00850193	0.000673444	1	0
ZNF362	149076	broad.mit.edu	37	1	33760881	33760881	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:33760881G>A	uc001bxc.1	+	7	1291	c.1121G>A	c.(1120-1122)aGc>aAc	p.S374N		NM_152493	NP_689706	Q5T0B9	ZN362_HUMAN	Homo sapiens zinc finger protein 362 (ZNF362), mRNA.	374					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(4)|lung(2)	10		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				TACTGCTGCAGCATGTGTGGG	0.632000											OREG0013342	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		25			9		0	0	0.000274275	0	0
OVOS2	0	broad.mit.edu	37	12	31311882	31311882	+	Missense_Mutation	SNP	C	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr12:31311882C>A	uc010sjy.1	-	4	548	c.548G>T	c.(547-549)tGg>tTg	p.W183L						RecName: Full=Ovostatin homolog 2; Flags: Precursor;													all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					CACAACAATCCAGTAATCTCC	0.368000														241			12		0.000219431	0.00323436	0.000219431	1	0
ROBO2	6092	broad.mit.edu	37	3	77693936	77693936	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr3:77693936G>A	uc011bgk.2	+	25	4671	c.4028G>A	c.(4027-4029)gGa>gAa	p.G1343E	ROBO2_uc021xat.1_Missense_Mutation_p.G1355E|ROBO2_uc003dpy.4_Missense_Mutation_p.G1339E|ROBO2_uc003dpz.3_Missense_Mutation_p.G1404E|ROBO2_uc011bgj.2_Non-coding_Transcript	NM_002942	NP_002933	Q9HCK4	ROBO2_HUMAN	Homo sapiens roundabout, axon guidance receptor, homolog 2 (Drosophila) (ROBO2), transcript variant 2, mRNA.	1339					apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		TCTTCTAAGGGATCCACTGGA	0.517000														63			6		0	0	3.59834e-05	0	0
MUC16	94025	broad.mit.edu	37	19	9062025	9062025	+	Missense_Mutation	SNP	G	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr19:9062025G>T	uc002mkp.3	-	2	25625	c.25421C>A	c.(25420-25422)tCt>tAt	p.S8474Y		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	8476	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CGCTTCAGTAGAGATGTCTGG	0.502000														129			9		0.000673444	0.00850193	0.000673444	1	0
EVC2	132884	broad.mit.edu	37	4	5567001	5567001	+	Missense_Mutation	SNP	G	C	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr4:5567001G>C	uc003gij.3	-	20	3697	c.3643C>G	c.(3643-3645)Cgc>Ggc	p.R1215G	EVC2_uc003gik.3_Missense_Mutation_p.R1135G|EVC2_uc011bwb.2_Missense_Mutation_p.R655G	NM_147127	NP_667338	Q86UK5	LBN_HUMAN	Homo sapiens Ellis van Creveld syndrome 2 (EVC2), transcript variant 1, mRNA.	1215						integral to membrane				NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						TTTCTCTTGCGGGCCCACAGC	0.572000														125			6		0	0	3.59834e-05	0	0
OAS2	4939	broad.mit.edu	37	12	113424884	113424884	+	Silent	SNP	C	T	T	rs145718121	by1000genomes	TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr12:113424884C>T	uc001tuj.3	+	1	359	c.219C>T	c.(217-219)tcC>tcT	p.S73S	OAS2_uc001tuh.3_Silent_p.S73S|OAS2_uc001tui.1_Silent_p.S73S	NM_016817	NP_058197	P29728	OAS2_HUMAN	Homo sapiens 2'-5'-oligoadenylate synthetase 2, 69/71kDa (OAS2), transcript variant 1, mRNA.	73	OAS domain 1.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	endoplasmic reticulum|membrane|microsome|mitochondrion|nucleus	ATP binding|RNA binding|nucleotidyltransferase activity	p.S73F(1)		NS(1)|breast(2)|endometrium(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						GAGGCAACTCCGATGGTACCC	0.463000														108			16		0	0	0.000566183	0	0
AP3M1	26985	broad.mit.edu	37	10	75897981	75897981	+	Missense_Mutation	SNP	G	C	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr10:75897981G>C	uc001jwf.3	-	1	587	c.157C>G	c.(157-159)Cac>Gac	p.H53D	AP3M1_uc001jwg.3_Missense_Mutation_p.H53D|AP3M1_uc001jwh.3_Missense_Mutation_p.H53D|AP3M1_uc010qla.2_Missense_Mutation_p.H53D	NM_207012	NP_996895	Q9Y2T2	AP3M1_HUMAN	Homo sapiens adaptor-related protein complex 3, mu 1 subunit (AP3M1), transcript variant 1, mRNA.	53					protein targeting to lysosome|vesicle-mediated transport	Golgi apparatus|clathrin adaptor complex|lysosome	protein binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(1)|prostate(1)|skin(1)	13	Prostate(51;0.0112)					AGGTAGTGGTGAGGTGTTGAA	0.438000														96			6		0	0	3.59834e-05	0	0
TDRD5	163589	broad.mit.edu	37	1	179600044	179600044	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:179600044C>T	uc010pnp.2	+	6	1633	c.1115C>T	c.(1114-1116)cCt>cTt	p.P372L	TDRD5_uc021pfm.1_Missense_Mutation_p.P372L|TDRD5_uc001gnf.2_Missense_Mutation_p.P372L|TDRD5_uc021pfn.1_Missense_Mutation_p.P372L|TDRD5_uc001gnh.2_5'UTR	NM_001199085	NP_001186014	Q8NAT2	TDRD5_HUMAN	Homo sapiens tudor domain containing 5 (TDRD5), transcript variant 1, mRNA.	372	Lotus/OST-HTH 3.				DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						GATAAGAAGCCTCTACCACCT	0.403000														100			22		0	0	0.00047179	0	0
KANK4	163782	broad.mit.edu	37	1	62737248	62737248	+	Silent	SNP	C	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:62737248C>A	uc001dah.4	-	3	2291	c.1914G>T	c.(1912-1914)tcG>tcT	p.S638S	KANK4_uc001dai.4_Silent_p.S10S|KANK4_uc001dag.4_5'UTR	NM_181712	NP_859063	Q5T7N3	KANK4_HUMAN	Homo sapiens KN motif and ankyrin repeat domains 4 (KANK4), mRNA.	638								p.S638*(1)|p.P637Q(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						TAAGGCTGGTCGATGGGGAGA	0.458000														53			5		8.12818e-05	0.00127893	8.12818e-05	1	0
POLB	5423	broad.mit.edu	37	8	42220189	42220189	+	Silent	SNP	C	G	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr8:42220189C>G	uc003xoz.2	+	10	851	c.681C>G	c.(679-681)acC>acG	p.T227T	POLB_uc011lcs.2_Silent_p.T73T	NM_002690	NP_002681	P06746	DPOLB_HUMAN	Homo sapiens polymerase (DNA directed), beta (POLB), mRNA.	227					DNA-dependent DNA replication	cytoplasm|nucleoplasm|spindle microtubule	DNA-(apurinic or apyrimidinic site) lyase activity|DNA-directed DNA polymerase activity|enzyme binding|metal ion binding|microtubule binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(5)|ovary(1)	16	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;2.58e-12)|Lung NSC(13;4.24e-11)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.1)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	BRCA - Breast invasive adenocarcinoma(8;3.18e-11)|Lung(22;0.00467)|OV - Ovarian serous cystadenocarcinoma(14;0.00523)|LUSC - Lung squamous cell carcinoma(45;0.024)		Cytarabine(DB00987)	TCACAGATACCCTGTCAAAGG	0.363000								DNA polymerases (catalytic subunits)						72			4		0	0	3.59834e-05	0	0
NOS2	4843	broad.mit.edu	37	17	26110097	26110097	+	Missense_Mutation	SNP	G	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr17:26110097G>T	uc002gzu.3	-	5	767	c.503C>A	c.(502-504)gCg>gAg	p.A168E	NOS2_uc010crh.1_Missense_Mutation_p.A168E|NOS2_uc010wab.1_Missense_Mutation_p.A168E	NM_000625	NP_000616	P35228	NOS2_HUMAN	Homo sapiens nitric oxide synthase 2, inducible (NOS2), mRNA.	168					arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process	cytosol|nucleus	FMN binding|NADP binding|arginine binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56					Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155)	CTTTGTTACCGCTTCCACCCT	0.512000														100			5		0.000442599	0.00580232	0.000442599	1	0
ALAD	210	broad.mit.edu	37	9	116155812	116155812	+	Missense_Mutation	SNP	C	G	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr9:116155812C>G	uc011lxf.2	-	1	230	c.28G>C	c.(28-30)Ggc>Cgc	p.G10R	ALAD_uc011lxe.2_Missense_Mutation_p.G10R|ALAD_uc004bhl.4_5'UTR	NM_000031	NP_000022	P13716	HEM2_HUMAN	Homo sapiens aminolevulinate dehydratase (ALAD), mRNA.	10					heme biosynthetic process|protein homooligomerization	cytosol	identical protein binding|lead ion binding|porphobilinogen synthase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|stomach(1)	9					Aminolevulinic acid(DB00855)	TGGAAGTAGCCGCTGTGCAGA	0.612000														38			3		0	0	6.4e-05	0	0
CUL2	8453	broad.mit.edu	37	10	35343418	35343419	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr10:35343418_35343419GG>AA	uc010qer.2	-	4	527_528	c.423_424CC>TT	c.(421-426)gacctt>gaTTtt	p.L142F	CUL2_uc021ppa.1_Missense_Mutation_p.L136F|CUL2_uc009xma.3_5'UTR|CUL2_uc001ixv.3_Missense_Mutation_p.L123F|CUL2_uc001ixw.3_Missense_Mutation_p.L123F|CUL2_uc010qes.2_Intron	NM_001198778	NP_001185707	Q13617	CUL2_HUMAN	Homo sapiens cullin 2 (CUL2), transcript variant 1, mRNA.	123					G1/S transition of mitotic cell cycle|cell cycle arrest|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex	ubiquitin protein ligase binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|prostate(2)|skin(1)|urinary_tract(2)	31						CCATACTGAAGGTCCGCTTCTG	0.327000														104			22		0	0	6.4e-05	0	0
ATF7IP2	80063	broad.mit.edu	37	16	10524874	10524874	+	Nonsense_Mutation	SNP	G	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr16:10524874G>T	uc002czw.3	+	1	556	c.397G>T	c.(397-399)Gag>Tag	p.E133*	ATF7IP2_uc010uyp.2_Intron|ATF7IP2_uc002czu.3_Nonsense_Mutation_p.E133*|ATF7IP2_uc002czv.3_Nonsense_Mutation_p.E133*|ATF7IP2_uc010uyo.2_Non-coding_Transcript|ATF7IP2_uc010uyq.2_Non-coding_Transcript	NM_024997	NP_079273	Q5U623	MCAF2_HUMAN	Homo sapiens activating transcription factor 7 interacting protein 2 (ATF7IP2), transcript variant 1, mRNA.	133					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				large_intestine(3)	3						CTTCACAGAAGAGGCAAAAGA	0.398000														109			8		0.000274275	0.00385584	0.000274275	1	0
GPLD1	2822	broad.mit.edu	37	6	24436820	24436820	+	Missense_Mutation	SNP	G	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr6:24436820G>T	uc003ned.1	-	21	2453	c.2342C>A	c.(2341-2343)cCa>cAa	p.P781Q		NM_001503	NP_001494	P80108	PHLD_HUMAN	Homo sapiens glycosylphosphatidylinositol specific phospholipase D1 (GPLD1), transcript variant 1, mRNA.	781						extracellular region	glycosylphosphatidylinositol phospholipase D activity			breast(3)|endometrium(5)|kidney(1)|large_intestine(11)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	32						TTCTGGACATGGAGTTATCCA	0.398000														137			8		0.000442599	0.00580232	0.000442599	1	0
C10orf68	79741	broad.mit.edu	37	10	33017835	33017835	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr10:33017835G>A	uc001iwm.1	+	6	774	c.538G>A	c.(538-540)Gaa>Aaa	p.E180K	C10orf68_uc001iwl.1_Missense_Mutation_p.E212K|C10orf68_uc001iwn.4_Missense_Mutation_p.E204K|C10orf68_uc010qei.1_Intron|C10orf68_uc001iwo.4_Non-coding_Transcript	NM_024688	NP_078964	Q9H943	CJ068_HUMAN	Homo sapiens chromosome 10 open reading frame 68 (C10orf68), mRNA.	204								p.L180L(1)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(4)	29						AGTACCAAATGAAAATGTGAT	0.294000														74			9		0	0	0.000274275	0	0
CRY1	1407	broad.mit.edu	37	12	107398999	107398999	+	Nonsense_Mutation	SNP	C	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr12:107398999C>A	uc001tmi.3	-	2	1154	c.295G>T	c.(295-297)Gag>Tag	p.E99*		NM_004075	NP_004066	Q16526	CRY1_HUMAN	Homo sapiens cryptochrome 1 (photolyase-like) (CRY1), mRNA.	99	DNA photolyase.				DNA repair|protein-chromophore linkage|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA photolyase activity|blue light photoreceptor activity|double-stranded DNA binding|nucleotide binding|protein binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|skin(1)	29						GAATCATACTCAATTGAAAGT	0.338000														139			7		6.40141e-05	0.00103518	6.40141e-05	1	0
SNTB1	6641	broad.mit.edu	37	8	121823948	121823948	+	Missense_Mutation	SNP	G	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr8:121823948G>T	uc010mdg.3	-	0	362	c.136C>A	c.(136-138)Ctg>Atg	p.L46M	SNTB1_uc003ype.3_Missense_Mutation_p.L46M	NM_021021	NP_066301	Q13884	SNTB1_HUMAN	Homo sapiens syntrophin, beta 1 (dystrophin-associated protein A1, 59kDa, basic component 1) (SNTB1), mRNA.	46	PH 1.				muscle contraction	cell junction|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|calmodulin binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(6)	24	Lung NSC(37;4.46e-09)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)		STAD - Stomach adenocarcinoma(47;0.00503)			CTCAGAACCAGGGCGTCCTCG	0.711000														21			4		3.59834e-05	0.000594959	3.59834e-05	1	0
SVEP1	79987	broad.mit.edu	37	9	113217905	113217905	+	Missense_Mutation	SNP	C	G	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr9:113217905C>G	uc010mtz.3	-	21	4089	c.3752G>C	c.(3751-3753)gGg>gCg	p.G1251A	SVEP1_uc010mua.1_Missense_Mutation_p.G1251A	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	Homo sapiens sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 (SVEP1), mRNA.	1251	EGF-like 2; calcium-binding (Potential).				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						AATGAATTCCCCAACTAGGTC	0.413000														37			3		0	0	3.59834e-05	0	0
ACSM2B	348158	broad.mit.edu	37	16	20570715	20570715	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr16:20570715C>T	uc002dhj.4	-	3	442	c.232G>A	c.(232-234)Gaa>Aaa	p.E78K	ACSM2B_uc002dhk.4_Missense_Mutation_p.E78K|ACSM2B_uc010bwf.1_Missense_Mutation_p.E78K	NM_182617	NP_872423	Q68CK6	ACS2B_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 2B (ACSM2B), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	78					fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|CoA-ligase activity|butyrate-CoA ligase activity|metal ion binding			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						CACATTAATTCCTTCCCCTTC	0.557000														17			4		0	0	0.000602214	0	0
HSPB8	26353	broad.mit.edu	37	12	119631576	119631576	+	Silent	SNP	T	G	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr12:119631576T>G	uc001txb.3	+	2	1027	c.504T>G	c.(502-504)gcT>gcG	p.A168A		NM_014365	NP_055180	Q9UJY1	HSPB8_HUMAN	Homo sapiens heat shock 22kDa protein 8 (HSPB8), mRNA.	168					cell death|response to heat	cytoplasm|nucleus	identical protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(9)|skin(1)	14	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TCATCGAAGCTCCCCAGGTCC	0.507000														98			5		0	0	0.000602214	0	0
ABCB7	22	broad.mit.edu	37	X	74288867	74288867	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chrX:74288867C>T	uc004ebz.3	-	11	1662	c.1637G>A	c.(1636-1638)cGg>cAg	p.R546Q	ABCB7_uc010nlt.3_Missense_Mutation_p.R505Q|ABCB7_uc004eca.3_Missense_Mutation_p.R545Q|ABCB7_uc011mqn.2_Missense_Mutation_p.R519Q|ABCB7_uc010nls.3_Missense_Mutation_p.R506Q	NM_004299	NP_004290	O75027	ABCB7_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 7 (ABCB7), nuclear gene encoding mitochondrial protein, mRNA.	545	ABC transporter.				cellular iron ion homeostasis	integral to membrane|mitochondrial inner membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|heme transporter activity			breast(1)|endometrium(5)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)	20						CACTGCCCTCCGAAGGCTTTC	0.393000														164			6		0	0	0.000157383	0	0
KANSL1L	151050	broad.mit.edu	37	2	211018610	211018610	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr2:211018610T>C	uc002vds.3	-	1	905	c.697A>G	c.(697-699)Att>Gtt	p.I233V	KANSL1L_uc002vdt.3_Missense_Mutation_p.I233V|KANSL1L_uc002vdw.3_Missense_Mutation_p.I233V|KANSL1L_uc002vdy.1_Missense_Mutation_p.I233V|KANSL1L_uc002vdv.3_Missense_Mutation_p.I233V|KANSL1L_uc002vdx.1_Missense_Mutation_p.I233V	NM_152519	NP_689732	A0AUZ9	CB067_HUMAN	Homo sapiens chromosome 2 open reading frame 67 (C2orf67), mRNA.	233																	CTAAGTAAAATTTTCTGTTTG	0.403000														100			8		0	0	0.000157383	0	0
CDC23	8697	broad.mit.edu	37	5	137527989	137527989	+	Missense_Mutation	SNP	G	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr5:137527989G>T	uc003lcl.3	-	10	1286	c.1255C>A	c.(1255-1257)Ctt>Att	p.L419I		NM_004661	NP_004652	Q9UJX2	CDC23_HUMAN	Homo sapiens cell division cycle 23 homolog (S. cerevisiae) (CDC23), mRNA.	419					G1 phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase plate congression|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of exit from mitosis	anaphase-promoting complex|cytosol|nucleoplasm	binding|ubiquitin-protein ligase activity	p.L413I(1)|p.R418Q(1)		autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(6)|prostate(2)|skin(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			TAATAATAAAGGCAGTAAAAT	0.438000														76			16		5.01169e-05	0.000818011	0.000566183	1	0
FANCG	2189	broad.mit.edu	37	9	35074161	35074161	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr9:35074161G>A	uc003zwb.1	-	13	2305	c.1813C>T	c.(1813-1815)Cgt>Tgt	p.R605C	VCP_uc003zvy.2_5'Flank|VCP_uc010mkh.1_5'Flank|VCP_uc010mki.1_5'Flank|FANCG_uc010mkj.1_Missense_Mutation_p.R347C	NM_004629	NP_004620	O15287	FANCG_HUMAN	Homo sapiens Fanconi anemia, complementation group G (FANCG), mRNA.	605					DNA repair|cell cycle checkpoint|mitochondrion organization	mitochondrion|nucleoplasm	damaged DNA binding|protein binding			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(7)|ovary(2)|prostate(3)|stomach(1)	28			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			AAGGCGTCACGATCAGAGGGA	0.512000			"""Mis, N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks						89			6		0	0	0.000442599	0	0
APRT	353	broad.mit.edu	37	16	88876845	88876845	+	Missense_Mutation	SNP	G	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr16:88876845G>T	uc002flv.3	-	2	342	c.307C>A	c.(307-309)Ctg>Atg	p.L103M	APRT_uc002flw.3_Missense_Mutation_p.L103M	NM_000485	NP_000476	P07741	APT_HUMAN	Homo sapiens adenine phosphoribosyltransferase (APRT), transcript variant 1, mRNA.	103					purine ribonucleoside salvage	cytosol|nucleus	AMP binding|adenine phosphoribosyltransferase activity|protein binding			cervix(1)|endometrium(1)|liver(1)	3				BRCA - Breast invasive adenocarcinoma(80;0.0477)	Adenine(DB00173)|Adenosine monophosphate(DB00131)	CCGTACTCCAGGGAATAGGAG	0.662000														36			6		0.000274275	0.00385584	0.000274275	1	0
CAMTA1	23261	broad.mit.edu	37	1	6880265	6880265	+	Nonsense_Mutation	SNP	G	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:6880265G>T	uc001aoi.3	+	1	277	c.70G>T	c.(70-72)Gga>Tga	p.G24*	CAMTA1_uc021ofq.1_Nonsense_Mutation_p.G24*|CAMTA1_uc021ofr.1_Intron|CAMTA1_uc001aoh.3_Nonsense_Mutation_p.G24*	NM_015215	NP_056030	Q9Y6Y1	CMTA1_HUMAN	Homo sapiens calmodulin binding transcription activator 1 (CAMTA1), transcript variant 1, mRNA.	24					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		tgtattctgcggaacTAGCAC	0.418000			T	WWTR1	epitheliod hemangioendothelioma									87			6		0.000442599	0.00580232	0.000442599	1	0
SDCBP2	27111	broad.mit.edu	37	20	1293238	1293238	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr20:1293238G>A	uc021vzn.1	-	5	612	c.553C>T	c.(553-555)Cgg>Tgg	p.R185W	SDCBP2_uc021vzo.1_Missense_Mutation_p.R185W|SDCBP2_uc002weu.4_Missense_Mutation_p.R100W|SDCBP2_uc002wev.4_Missense_Mutation_p.R185W	NM_001199784	NP_001186713	Q9H190	SDCB2_HUMAN	Homo sapiens syndecan binding protein (syntenin) 2 (SDCBP2), transcript variant 3, mRNA.	185	PDZ 1.				intracellular signal transduction|intracellular transport|nervous system development	cytoplasm	protein C-terminus binding|protein heterodimerization activity|protein homodimerization activity			endometrium(1)|large_intestine(3)|lung(1)|skin(1)|stomach(1)	7						CACCTGTCCCGAACCACCACG	0.632000														46			10		0	0	0.000442599	0	0
TMC5	79838	broad.mit.edu	37	16	19460949	19460949	+	Silent	SNP	C	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr16:19460949C>A	uc002dgc.4	+	4	1793	c.1044C>A	c.(1042-1044)ccC>ccA	p.P348P	TMC5_uc010vaq.2_Silent_p.P348P|TMC5_uc002dgb.4_Silent_p.P348P|TMC5_uc010var.2_Silent_p.P348P	NM_001105248	NP_001098718	Q6UXY8	TMC5_HUMAN	Homo sapiens transmembrane channel-like 5 (TMC5), transcript variant 1, mRNA.	348						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						ACAAGTCACCCCAAGGTAAGt	0.502000														113			7		2.0095e-06	3.62695e-05	8.12818e-05	1	0
RHOU	58480	broad.mit.edu	37	1	228879182	228879182	+	Silent	SNP	C	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:228879182C>T	uc001htf.3	+	2	1138	c.472C>T	c.(472-474)Cta>Tta	p.L158L	RHOU_uc021pkj.1_Non-coding_Transcript	NM_021205	NP_067028	Q7L0Q8	RHOU_HUMAN	Homo sapiens ras homolog gene family, member U (RHOU), transcript variant 1, mRNA.	158					regulation of small GTPase mediated signal transduction	Golgi membrane|cell projection|cytosol|focal adhesion|podosome	GTP binding|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|stomach(1)	13	Breast(184;0.162)	Prostate(94;0.183)				CCCCATCATCCTAGTTGGAAC	0.527000														170			28		0	0	0.000720815	0	0
POLE	5426	broad.mit.edu	37	12	133220476	133220476	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr12:133220476C>T	uc001uks.1	-	32	4281	c.4237G>A	c.(4237-4239)Gag>Aag	p.E1413K	POLE_uc001ukq.1_5'Flank|POLE_uc001ukr.1_Missense_Mutation_p.E217K|POLE_uc010tbq.1_Non-coding_Transcript|POLE_uc009zyu.1_Missense_Mutation_p.E1386K	NM_006231	NP_006222	Q07864	DPOE1_HUMAN	Homo sapiens polymerase (DNA directed), epsilon (POLE), mRNA.	1413					DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|base-excision repair, gap-filling|nucleotide-excision repair, DNA gap filling|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	DNA binding|DNA-directed DNA polymerase activity|chromatin binding|nucleotide binding|protein binding|zinc ion binding			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		GCGTTGATCTCGTTGATGTGT	0.547000								DNA polymerases (catalytic subunits)						100			7		0	0	8.12818e-05	0	0
SLC7A2	6542	broad.mit.edu	37	8	17409273	17409273	+	Splice_Site	SNP	G	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr8:17409273G>A	uc011kye.2	+	6	1001	c.953_splice	c.e6-1	p.G318_splice	SLC7A2_uc011kyc.2_Splice_Site_p.G278_splice|SLC7A2_uc011kyd.2_Splice_Site_p.G318_splice	NM_001164771	NP_001158243	P52569	CTR2_HUMAN	Homo sapiens solute carrier family 7 (cationic amino acid transporter, y+ system), member 2 (SLC7A2), transcript variant 3, mRNA.	278					cellular amino acid metabolic process|ion transport	cytoplasm|integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	25				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	L-Lysine(DB00123)|L-Ornithine(DB00129)	ATTTCCTTAGGTGAAGAAGTT	0.373000														92			13		0	0	9.7654e-05	0	0
OR5K1	26339	broad.mit.edu	37	3	98188534	98188534	+	Silent	SNP	C	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr3:98188534C>T	uc003dsm.3	+	0	114	c.114C>T	c.(112-114)acC>acT	p.T38T		NM_001004736	NP_001004736	Q8NHB7	OR5K1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily K, member 1 (OR5K1), mRNA.	38					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T38T(4)		breast(1)|endometrium(1)|large_intestine(4)|lung(21)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						ATCTGATCACCGTGGTGGGGA	0.433000														52			4		0	0	0.00024832	0	0
SYNJ2BP-COX16	100529257	broad.mit.edu	37	14	70855318	70855318	+	Missense_Mutation	SNP	C	G	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr14:70855318C>G	uc021rvn.1	-	1	197	c.70G>C	c.(70-72)Ggc>Cgc	p.G24R	SYNJ2BP-COX16_uc021rvm.1_Missense_Mutation_p.G24R|SYNJ2BP-COX16_uc021rvo.1_Missense_Mutation_p.G24R|SYNJ2BP-COX16_uc001xmc.4_Missense_Mutation_p.G24R	NM_001202547	NP_001189476			Homo sapiens SYNJ2BP-COX16 readthrough (SYNJ2BP-COX16), transcript variant 1, mRNA.																		ATGTTGAAGCCCAGCCCTGAG	0.507000														86			6		0	0	3.59834e-05	0	0
TCRA	0	broad.mit.edu	37	14	22466434	22466434	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr14:22466434C>T	uc001wcq.3	+	2	521	c.364C>T	c.(364-366)Ctc>Ttc	p.L122F	TCRA_uc001wbw.2_Intron|TCRA_uc021rpe.1_Intron|TCR-alpha_uc021rpg.1_Intron|AV2S1A1_uc010aiv.1_Intron|TCRA_uc021rpj.1_Intron|T-Cell_Receptor_V-alpha_region_uc021rpl.1_Intron|TCRA_uc010tmo.2_Intron|TCRA_uc001wco.3_Intron|TCRA_uc010aje.1_Intron|TCRA_uc001wcp.2_Intron|TCRA_uc001wcr.1_Intron|TCRA_uc001wcs.1_Intron|TCRA_uc010ajf.1_Intron|TCRA_uc010tmm.2_Intron|TCRA_uc010ajd.1_Intron					Homo sapiens mRNA for T cell receptor alpha variable 16, partial cds, clone: un 96.																		AACCTGCAGCCTCTACGCAAA	0.498000														18			7		0	0	8.12818e-05	0	0
PFKL	5211	broad.mit.edu	37	21	45736184	45736184	+	Missense_Mutation	SNP	C	G	G	rs150642566		TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr21:45736184C>G	uc002zek.3	+	10	1347	c.946C>G	c.(946-948)Cgc>Ggc	p.R316G	PFKL_uc002zel.3_Missense_Mutation_p.R269G			P17858	K6PL_HUMAN	Homo sapiens phosphofructokinase, liver (PFKL), transcript variant 1, non-coding RNA.	269					fructose 6-phosphate metabolic process|glycolysis|protein oligomerization	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|fructose-6-phosphate binding|identical protein binding|kinase binding|metal ion binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	23				Colorectal(79;0.0811)		TGCCATTGACCGCAACGGGAA	0.642000														77			4		0	0	3.59834e-05	0	0
RCAN3	11123	broad.mit.edu	37	1	24859595	24859595	+	Missense_Mutation	SNP	G	C	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:24859595G>C	uc021ojc.1	+	3	564	c.392G>C	c.(391-393)cGg>cCg	p.R131P	RCAN3_uc021ojd.1_Missense_Mutation_p.R6P|RCAN3_uc021oje.1_Missense_Mutation_p.R131P|RCAN3_uc001bjj.3_Missense_Mutation_p.R131P|RCAN3_uc009vre.3_Missense_Mutation_p.R73P|RCAN3_uc021ojf.1_Missense_Mutation_p.R6P|RCAN3_uc021ojg.1_Missense_Mutation_p.R131P|RCAN3_uc009vrg.3_Intron|RCAN3_uc009vrd.3_Intron|RCAN3_uc009vrf.3_Intron	NM_001251979	NP_001238908	Q9UKA8	RCAN3_HUMAN	Homo sapiens RCAN family member 3 (RCAN3), transcript variant 4, mRNA.	131					anatomical structure morphogenesis|calcium-mediated signaling		RNA binding|nucleotide binding|troponin I binding			central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)	7		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00473)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0427)|OV - Ovarian serous cystadenocarcinoma(117;1.13e-24)|Colorectal(126;6.09e-08)|COAD - Colon adenocarcinoma(152;3.33e-06)|GBM - Glioblastoma multiforme(114;0.000923)|BRCA - Breast invasive adenocarcinoma(304;0.0018)|KIRC - Kidney renal clear cell carcinoma(1967;0.00359)|STAD - Stomach adenocarcinoma(196;0.00493)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.14)		GGCGAAGTGCGGGACAAGTCC	0.567000														46			3		0	0	6.4e-05	0	0
PRG3	10394	broad.mit.edu	37	11	57146186	57146186	+	Missense_Mutation	SNP	G	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr11:57146186G>T	uc001njv.2	-	3	585	c.475C>A	c.(475-477)Cag>Aag	p.Q159K		NM_006093	NP_006084	Q9Y2Y8	PRG3_HUMAN	Homo sapiens proteoglycan 3 (PRG3), mRNA.	159	C-type lectin.				basophil activation|histamine biosynthetic process|immune response|leukotriene biosynthetic process|negative regulation of translation|neutrophil activation|positive regulation of interleukin-8 biosynthetic process|superoxide anion generation		sugar binding			large_intestine(3)|lung(5)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	13						ATCCAGACCTGGGCTTGGTTG	0.493000														207			11		0.000422831	0.00580232	0.000422831	1	0
SLFN5	162394	broad.mit.edu	37	17	33586577	33586577	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr17:33586577C>T	uc002hjf.4	+	1	985	c.868C>T	c.(868-870)Cgt>Tgt	p.R290C	SLFN5_uc002hje.3_Missense_Mutation_p.R290C|SLFN5_uc010wcg.2_Missense_Mutation_p.R290C	NM_144975	NP_659412	Q08AF3	SLFN5_HUMAN	Homo sapiens schlafen family member 5 (SLFN5), mRNA.	290					cell differentiation		ATP binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(8)|liver(2)|lung(6)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	34		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0191)		GGGGGCCCTCCGTGGATATGT	0.473000														176			26		0	0	0.000227799	0	0
PRG4	10216	broad.mit.edu	37	1	186276564	186276565	+	Missense_Mutation	DNP	CA	TG	TG			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:186276564_186276565CA>TG	uc001gru.4	+	6	1764_1765	c.1713_1714CA>TG	c.(1711-1716)accacc>acTGcc	p.T572A	MIR548F1_uc021pgf.1_Intron|PRG4_uc001grt.4_Missense_Mutation_p.T531A|PRG4_uc009wyl.3_Missense_Mutation_p.T479A|PRG4_uc009wym.3_Missense_Mutation_p.T438A|PRG4_uc010poo.2_Intron	NM_005807	NP_005798	Q92954	PRG4_HUMAN	Homo sapiens proteoglycan 4 (PRG4), transcript variant A, mRNA.	572	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	p.T572A(2)|p.T571T(2)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CTGCACCCACCACCCCCAAGAA	0.644000														117			9		0	0	6.4e-05	0	0
MGAM	8972	broad.mit.edu	37	7	141759688	141759688	+	Silent	SNP	T	C	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr7:141759688T>C	uc003vwy.3	+	32	4035	c.3981T>C	c.(3979-3981)ccT>ccC	p.P1327P		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	1327	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity	p.P1327P(2)		cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	AGACACAGCCTTATCCTGCCT	0.463000														28			3		0	0	6.4e-05	0	0
TRIP10	9322	broad.mit.edu	37	19	6741257	6741257	+	Silent	SNP	G	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr19:6741257G>T	uc002mfs.3	+	2	228	c.162G>T	c.(160-162)ctG>ctT	p.L54L	TRIP10_uc010dux.2_Silent_p.L54L|TRIP10_uc002mfr.3_Silent_p.L54L|TRIP10_uc010duy.3_Non-coding_Transcript	NM_004240	NP_004231	Q15642	CIP4_HUMAN	Homo sapiens thyroid hormone receptor interactor 10 (TRIP10), mRNA.	54	FCH.|Induction of membrane tubulation.|Required for podosome formation and interaction with AKAP9 and microtubules.|Required for translocation to the plasma membrane in response to insulin (By similarity).				actin cytoskeleton organization|cell communication|endocytosis|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	Golgi apparatus|cell cortex|cell projection|cytoskeleton|cytosol|lysosome|perinuclear region of cytoplasm|phagocytic cup	GTPase activator activity|identical protein binding|lipid binding			NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	16						AAAAATATCTGCCCAAGAGAC	0.612000														29			4		0.000157383	0.00233702	0.000157383	1	0
TCTN3	26123	broad.mit.edu	37	10	97442448	97442448	+	Missense_Mutation	SNP	C	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr10:97442448C>A	uc001klb.4	-	11	1656	c.1412G>T	c.(1411-1413)gGa>gTa	p.G471V	TCTN3_uc010qoi.2_Missense_Mutation_p.G323V	NM_015631	NP_056446	Q6NUS6	TECT3_HUMAN	Homo sapiens tectonic family member 3 (TCTN3), transcript variant 1, mRNA.	471					apoptosis	integral to membrane				breast(3)|endometrium(1)|large_intestine(2)|lung(8)|urinary_tract(1)	15		Colorectal(252;0.0815)		Epithelial(162;1.69e-07)|all cancers(201;5.63e-06)		GGTCCACCCTCCTTTCTGGGC	0.468000														146			8		0.000442599	0.00580232	0.000442599	1	0
GLDC	2731	broad.mit.edu	37	9	6645247	6645247	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr9:6645247C>T	uc003zkc.3	-	0	446	c.253G>A	c.(253-255)Gcg>Acg	p.A85T		NM_000170	NP_000161	P23378	GCSP_HUMAN	Homo sapiens glycine dehydrogenase (decarboxylating) (GLDC), nuclear gene encoding mitochondrial protein, mRNA.	85					glycine catabolic process	mitochondrion	electron carrier activity|glycine dehydrogenase (decarboxylating) activity|lyase activity|pyridoxal phosphate binding			cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Acute lymphoblastic leukemia(23;0.161)		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	GTCCTTACCGCCAGCCCCAAG	0.706000														3			3		0	0	6.4e-05	0	0
GIMAP6	474344	broad.mit.edu	37	7	150325545	150325545	+	Silent	SNP	C	T	T	rs138777121		TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr7:150325545C>T	uc022apv.1	-	2	831	c.351G>A	c.(349-351)ggG>ggA	p.G117G	GIMAP6_uc003whn.3_Silent_p.G47G|GIMAP6_uc003whm.3_Intron	NM_001244072	NP_001231001	Q6P9H5	GIMA6_HUMAN	Homo sapiens GTPase, IMAP family member 6 (GIMAP6), transcript variant 2, mRNA.	47							GTP binding	p.G47G(1)		endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TCCCTGTTTTCCCCATGAGAA	0.527000														284			24		0	0	0.000878237	0	0
HCFC1	3054	broad.mit.edu	37	X	153220600	153220600	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chrX:153220600C>T	uc004fjp.3	-	16	3778	c.3250G>A	c.(3250-3252)Gag>Aag	p.E1084K		NM_005334	NP_005325	P51610	HCFC1_HUMAN	Homo sapiens host cell factor C1 (VP16-accessory protein) (HCFC1), mRNA.	1084					cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex|MLL5-L complex|Set1C/COMPASS complex|mitochondrion	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					gtgCCCGTCTCGTGGGTCTCG	0.647000														72			7		0	0	8.12818e-05	0	0
EDEM3	80267	broad.mit.edu	37	1	184701975	184701975	+	Missense_Mutation	SNP	G	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:184701975G>T	uc010pom.2	-	5	869	c.608C>A	c.(607-609)cCa>cAa	p.P203Q	EDEM3_uc010pok.2_Missense_Mutation_p.P203Q|EDEM3_uc010pol.2_Non-coding_Transcript|EDEM3_uc001gqy.3_Missense_Mutation_p.P126Q	NM_025191	NP_079467	Q9BZQ6	EDEM3_HUMAN	Homo sapiens ER degradation enhancer, mannosidase alpha-like 3 (EDEM3), mRNA.	203					post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						ACTTACTCTTGGATAAGGAAG	0.368000														82			7		7.48243e-07	1.38262e-05	0.000442599	1	0
HRASLS2	54979	broad.mit.edu	37	11	63327632	63327632	+	Nonsense_Mutation	SNP	C	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr11:63327632C>A	uc001nxg.1	-	1	102	c.43G>T	c.(43-45)Gag>Tag	p.E15*		NM_017878	NP_060348	Q9NWW9	HRSL2_HUMAN	Homo sapiens HRAS-like suppressor 2 (HRASLS2), mRNA.	15					lipid catabolic process	cytoplasm	acyltransferase activity|hydrolase activity			breast(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)	6						CGAGAAATCTCAATCAGGTCT	0.517000														135			8		0.000442599	0.00580232	0.000442599	1	0
OXTR	5021	broad.mit.edu	37	3	8794834	8794834	+	Silent	SNP	C	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr3:8794834C>A	uc003brc.3	-	3	1621	c.999G>T	c.(997-999)acG>acT	p.T333T		NM_000916	NP_000907	P30559	OXYR_HUMAN	Homo sapiens oxytocin receptor (OXTR), mRNA.	333					female pregnancy|lactation|muscle contraction	integral to plasma membrane	oxytocin receptor activity|vasopressin receptor activity			NS(1)|endometrium(2)|large_intestine(4)|lung(5)|urinary_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(96;0.15)	Carbetocin(DB01282)	AGAGGTGGCCCGTGAACAGCA	0.612000														42			4		2.0095e-06	3.62695e-05	8.12818e-05	1	0
ACE2	59272	broad.mit.edu	37	X	15610443	15610443	+	Missense_Mutation	SNP	C	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chrX:15610443C>A	uc004cxa.1	-	2	516	c.348G>T	c.(346-348)ttG>ttT	p.L116F	ACE2_uc004cxb.2_Missense_Mutation_p.L116F	NM_021804	NP_068576	Q9BYF1	ACE2_HUMAN	Homo sapiens angiotensin I converting enzyme (peptidyl-dipeptidase A) 2 (ACE2), mRNA.	116					angiotensin-mediated drinking behavior|proteolysis|receptor biosynthetic process|regulation of cell proliferation|virion attachment, binding of host cell surface receptor	cell surface|extracellular space|integral to membrane|membrane raft|plasma membrane	carboxypeptidase activity|glycoprotein binding|metallopeptidase activity|peptidyl-dipeptidase activity|viral receptor activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	32	Hepatocellular(33;0.183)				Moexipril(DB00691)	GAATTGTGTTCAACTGCAAAT	0.313000														171			8		0.000442599	0.00580232	0.000442599	1	0
GRIA3	2892	broad.mit.edu	37	X	122598809	122598809	+	Silent	SNP	C	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chrX:122598809C>A	uc004etq.4	+	12	2462	c.2170C>A	c.(2170-2172)Cga>Aga	p.R724R	GRIA3_uc004etr.4_Silent_p.R724R|GRIA3_uc004ets.4_Non-coding_Transcript	NM_007325	NP_015564	P42263	GRIA3_HUMAN	Homo sapiens glutamate receptor, ionotrophic, AMPA 3 (GRIA3), transcript variant 1, mRNA.	724					glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity	p.A723T(1)		breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					L-Glutamic Acid(DB00142)	CGGAGTGGCCCGAGTGCGAAA	0.473000														85			6		0.000157383	0.00233702	0.000157383	1	0
HSF5	124535	broad.mit.edu	37	17	56565248	56565248	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr17:56565248G>A	uc002iwi.1	-	0	512	c.388C>T	c.(388-390)Ctc>Ttc	p.L130F		NM_001080439	NP_001073908	Q4G112	HSF5_HUMAN	Homo sapiens heat shock transcription factor family member 5 (HSF5), mRNA.	130						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|skin(1)	16	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GCGCTGGTGAGGCGCTTGAGG	0.721000														45			4		0	0	0.00024832	0	0
SLCO1C1	53919	broad.mit.edu	37	12	20870065	20870065	+	Splice_Site	SNP	G	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr12:20870065G>T	uc010sii.2	+	8	1032	c.677_splice	c.e8-1	p.G226_splice	SLCO1C1_uc010sij.2_Splice_Site_p.G177_splice|SLCO1C1_uc009zip.3_Splice_Site_p.G60_splice|SLCO1C1_uc001rei.3_Splice_Site_p.G226_splice|SLCO1C1_uc010sik.2_Splice_Site_p.G108_splice	NM_001145946	NP_001139416	Q9NYB5	SO1C1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 1C1 (SLCO1C1), transcript variant 1, mRNA.	226					sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)					TCTTGGTGCAGGGTGTGTGCA	0.353000														95			8		0.000157383	0.00233702	0.000157383	1	0
GTF3C2	2976	broad.mit.edu	37	2	27565843	27565843	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr2:27565843G>A	uc002rju.1	-	2	849	c.452C>T	c.(451-453)cCt>cTt	p.P151L	GTF3C2_uc002rjv.1_Missense_Mutation_p.P140L|GTF3C2_uc002rjw.1_Missense_Mutation_p.P140L|GTF3C2_uc010eyz.2_Missense_Mutation_p.P140L	NM_001521	NP_001512	Q8WUA4	TF3C2_HUMAN	Homo sapiens general transcription factor IIIC, polypeptide 2, beta 110kDa (GTF3C2), transcript variant 1, mRNA.	140	Poly-Leu.					transcription factor TFIIIC complex				central_nervous_system(4)|endometrium(6)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	38	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCGTTTCTTAGGCATGGGGGT	0.537000														122			15		0	0	0.00074312	0	0
TIMM9	26520	broad.mit.edu	37	14	58878647	58878647	+	Missense_Mutation	SNP	G	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr14:58878647G>T	uc010aph.3	-	1	232	c.17C>A	c.(16-18)cCa>cAa	p.P6Q	TIMM9_uc001xds.3_Missense_Mutation_p.P6Q|TIMM9_uc010api.3_Missense_Mutation_p.P6Q	NM_012460	NP_036592	Q9Y5J7	TIM9_HUMAN	Homo sapiens translocase of inner mitochondrial membrane 9 homolog (yeast) (TIMM9), nuclear gene encoding mitochondrial protein, mRNA.	6					protein import into mitochondrial inner membrane|sensory perception of sound|transmembrane transport	mitochondrial inner membrane presequence translocase complex|mitochondrial intermembrane space protein transporter complex	zinc ion binding			kidney(2)|skin(1)	3						ATCAGATTCTGGTATTTGTGC	0.328000														139			8		0.000442599	0.00580232	0.000442599	1	0
DDX6	1656	broad.mit.edu	37	11	118635982	118635982	+	Missense_Mutation	SNP	G	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr11:118635982G>T	uc001pub.2	-	5	942	c.581C>A	c.(580-582)gCc>gAc	p.A194D	DDX6_uc001puc.2_Missense_Mutation_p.A194D	NM_004397	NP_004388	P26196	DDX6_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 6 (DDX6), mRNA.	194	Helicase ATP-binding.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	RNA-induced silencing complex|cytoplasmic mRNA processing body|cytosol|stress granule	ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity|protein binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)	13	all_hematologic(175;0.0839)	Renal(330;0.0183)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)|Hepatocellular(160;0.0893)|Breast(348;0.0979)|all_hematologic(192;0.103)		OV - Ovarian serous cystadenocarcinoma(223;3.39e-06)|BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Colorectal(284;0.0377)		CATCACTTTGGCCCCTCCCAT	0.433000			T	IGH@	B-NHL									292			9		1.5842e-08	3.06498e-07	0.000151284	1	0
PIK3C2G	5288	broad.mit.edu	37	12	18491419	18491419	+	Silent	SNP	G	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr12:18491419G>T	uc001rdt.3	+	8	1448	c.1332G>T	c.(1330-1332)gtG>gtT	p.V444V	PIK3C2G_uc010sia.2_Non-coding_Transcript|PIK3C2G_uc010sib.2_Silent_p.V444V|PIK3C2G_uc010sic.2_Silent_p.V222V	NM_004570	NP_004561	O75747	P3C2G_HUMAN	Homo sapiens phosphoinositide-3-kinase, class 2, gamma polypeptide (PIK3C2G), mRNA.	444					cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				TAGGGTGTGTGGAAACCAAAC	0.299000														135			8		0.000274275	0.00385584	0.000274275	1	0
CNDP1	84735	broad.mit.edu	37	18	72247448	72247448	+	Missense_Mutation	SNP	C	G	G	rs144587048		TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr18:72247448C>G	uc002llq.3	+	9	1461	c.1250C>G	c.(1249-1251)cCg>cGg	p.P417R	CNDP1_uc002lls.3_Missense_Mutation_p.P220R	NM_032649	NP_116038	Q96KN2	CNDP1_HUMAN	Homo sapiens carnosine dipeptidase 1 (metallopeptidase M20 family) (CNDP1), mRNA.	417					proteolysis	extracellular region	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity|tripeptidase activity	p.H416Q(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27		Esophageal squamous(42;0.129)|Prostate(75;0.157)|Melanoma(33;0.211)		BRCA - Breast invasive adenocarcinoma(31;0.109)		GGACTACACCCGTGGATTGCA	0.443000														36			3		0	0	3.59834e-05	0	0
CTBP2	1488	broad.mit.edu	37	10	126678261	126678261	+	Silent	SNP	C	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr10:126678261C>T	uc009yak.3	-	10	1451	c.1164G>A	c.(1162-1164)ccG>ccA	p.P388P	CTBP2_uc009yal.3_Silent_p.P388P|CTBP2_uc001lif.4_Silent_p.P388P|CTBP2_uc001lih.4_Silent_p.P388P|CTBP2_uc001lid.4_Silent_p.P456P|CTBP2_uc001lie.4_Silent_p.P928P	NM_001329	NP_001320	P56545	CTBP2_HUMAN	Homo sapiens C-terminal binding protein 2 (CTBP2), transcript variant 1, mRNA.	388					negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent|viral genome replication|white fat cell differentiation	cell junction|synapse|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)		CGATGCCTGGCGGATATCTAA	0.542000														46			8		0	0	0.000442599	0	0
S100PBP	64766	broad.mit.edu	37	1	33318690	33318690	+	Silent	SNP	G	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:33318690G>T	uc001bvz.3	+	5	1312	c.1035G>T	c.(1033-1035)ggG>ggT	p.G345G	S100PBP_uc001bwc.3_Silent_p.G345G|S100PBP_uc001bwd.3_Non-coding_Transcript	NM_022753	NP_073590	Q96BU1	S1PBP_HUMAN	Homo sapiens S100P binding protein (S100PBP), transcript variant 1, mRNA.	345						nucleus	calcium-dependent protein binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|stomach(1)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				GTATCTCGGGGGAGCTTTGTG	0.478000														114			8		6.5536e-12	1.2948e-10	0.000157383	1	0
NUP85	79902	broad.mit.edu	37	17	73208138	73208138	+	Missense_Mutation	SNP	G	C	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr17:73208138G>C	uc002jng.1	+	3	602	c.342G>C	c.(340-342)gaG>gaC	p.E114D	NUP85_uc010wrv.1_Missense_Mutation_p.E68D	NM_024844	NP_079120	Q9BW27	NUP85_HUMAN	Homo sapiens nucleoporin 85kDa (NUP85), mRNA.	114					carbohydrate metabolic process|glucose transport|mRNA transport|mitotic prometaphase|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	Nup107-160 complex|condensed chromosome kinetochore|cytosol|nuclear membrane|spindle	protein binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	16	all_lung(278;0.14)|Lung NSC(278;0.168)		all cancers(21;3.45e-06)			CATGTATGGAGGAAATGCACC	0.423000														42			4		0	0	0.00024832	0	0
CNGB1	1258	broad.mit.edu	37	16	57921871	57921871	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr16:57921871C>T	uc002emt.2	-	31	3415	c.3350G>A	c.(3349-3351)gGa>gAa	p.G1117E	CNGB1_uc010cdh.2_Missense_Mutation_p.G1111E	NM_001297	NP_001288	Q14028	CNGB1_HUMAN	Homo sapiens cyclic nucleotide gated channel beta 1 (CNGB1), transcript variant 1, mRNA.	1117					sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						ACCCATCTTTCCTGTCATAGC	0.612000														126			20		0	0	0.000229342	0	0
CATSPER4	378807	broad.mit.edu	37	1	26527421	26527421	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:26527421G>A	uc010oez.2	+	7	1088	c.1088G>A	c.(1087-1089)gGa>gAa	p.G363E	CATSPER4_uc010oey.1_Missense_Mutation_p.G185E|CATSPER4_uc009vsf.3_Non-coding_Transcript	NM_198137	NP_937770	Q7RTX7	CTSR4_HUMAN	Homo sapiens cation channel, sperm associated 4 (CATSPER4), mRNA.	363					cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|voltage-gated ion channel activity	p.G363R(1)		NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)	27		all_cancers(24;2.05e-18)|Colorectal(325;0.000147)|Renal(390;0.00211)|all_lung(284;0.00218)|Lung NSC(340;0.00239)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-26)|Colorectal(126;1.34e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|BRCA - Breast invasive adenocarcinoma(304;0.000995)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00878)|READ - Rectum adenocarcinoma(331;0.0649)		CCCCTTGCGGGAGGCCCCCTG	0.562000														54			11		0	0	6.40141e-05	0	0
THAP9	79725	broad.mit.edu	37	4	83839983	83839983	+	Missense_Mutation	SNP	G	C	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr4:83839983G>C	uc003hnt.2	+	4	2737	c.2618G>C	c.(2617-2619)tGg>tCg	p.W873S	THAP9_uc003hns.1_Missense_Mutation_p.W729S|THAP9_uc003hnu.1_Non-coding_Transcript|THAP9_uc003hnv.2_Missense_Mutation_p.W590S	NM_024672	NP_078948	Q9H5L6	THAP9_HUMAN	Homo sapiens THAP domain containing 9 (THAP9), mRNA.	873							DNA binding|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(13)|lung(5)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(3)	33		Hepatocellular(203;0.114)				AGGAAACACTGGTCATCTGTA	0.323000														140			6		0	0	0.000157383	0	0
ITIH2	3698	broad.mit.edu	37	10	7769728	7769728	+	Nonsense_Mutation	SNP	G	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr10:7769728G>T	uc001ijs.3	+	10	1378	c.1216G>T	c.(1216-1218)Gga>Tga	p.G406*		NM_002216	NP_002207	P19823	ITIH2_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain 2 (ITIH2), mRNA.	406	VWFA.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						CAATAACTTGGGACTGTTAGA	0.448000														50			7		0.000442599	0.00580232	0.000442599	1	0
PCDHGC5	56097	broad.mit.edu	37	5	140712378	140712378	+	Silent	SNP	C	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr5:140712378C>T	uc003lji.2	+	0	2127	c.2127C>T	c.(2125-2127)atC>atT	p.I709I	PCDHGC5_uc011dan.2_Silent_p.I709I	NM_018912	NP_061735	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 1 (PCDHGA1), transcript variant 1, mRNA.	710					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTTCGTCATCGTGCTGCTGG	0.667000														137			34		0	0	0.00058488	0	0
DIAPH3	81624	broad.mit.edu	37	13	60582691	60582691	+	Nonsense_Mutation	SNP	G	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr13:60582691G>T	uc001vht.3	-	8	1220	c.1001C>A	c.(1000-1002)tCa>tAa	p.S334*	DIAPH3_uc001vhu.3_Nonsense_Mutation_p.S71*|DIAPH3_uc001vhw.1_Nonsense_Mutation_p.S323*|DIAPH3_uc010aed.1_Nonsense_Mutation_p.S288*|DIAPH3_uc010aee.1_Nonsense_Mutation_p.S264*	NM_001042517	NP_001035982	Q9NSV4	DIAP3_HUMAN	Homo sapiens diaphanous homolog 3 (Drosophila) (DIAPH3), transcript variant 1, mRNA.	334	GBD/FH3.				actin cytoskeleton organization		Rho GTPase binding|actin binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		CAGTTGAACTGAATTGTGCCG	0.308000														167			9		0.000274275	0.00385584	0.000274275	1	0
GRHL3	57822	broad.mit.edu	37	1	24663145	24663145	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:24663145C>T	uc021oiw.1	+	3	670	c.440C>T	c.(439-441)cCc>cTc	p.P147L	GRHL3_uc001bix.3_Missense_Mutation_p.P147L|GRHL3_uc021oix.1_Missense_Mutation_p.P101L|GRHL3_uc001biy.3_Missense_Mutation_p.P152L|GRHL3_uc001biz.3_Missense_Mutation_p.P54L	NM_198174	NP_937817	Q8TE85	GRHL3_HUMAN	Homo sapiens grainyhead-like 3 (Drosophila) (GRHL3), transcript variant 3, mRNA.	147					regulation of actin cytoskeleton organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143)		AAGGCAGCTCCCCTCCCTGCA	0.562000														127			17		0	0	0.000422831	0	0
CCDC38	120935	broad.mit.edu	37	12	96273484	96273484	+	Silent	SNP	G	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr12:96273484G>T	uc001tek.2	-	11	1314	c.1080C>A	c.(1078-1080)tcC>tcA	p.S360S		NM_182496	NP_872302	Q502W7	CCD38_HUMAN	Homo sapiens coiled-coil domain containing 38 (CCDC38), mRNA.	360										breast(1)|endometrium(2)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CTACATCTTGGGAATATTGAA	0.338000														154			9		0.000274275	0.00385584	0.000274275	1	0
PTCHD2	57540	broad.mit.edu	37	1	11585237	11585237	+	Silent	SNP	C	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:11585237C>T	uc001ash.4	+	11	2619	c.2481C>T	c.(2479-2481)ttC>ttT	p.F827F	PTCHD2_uc001asi.1_Silent_p.F827F	NM_020780	NP_065831	Q9P2K9	PTHD2_HUMAN	Homo sapiens patched domain containing 2 (PTCHD2), mRNA.	827					cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		CCGTAGATTTCCCAGGCACCG	0.567000														128			15		0	0	0.00074312	0	0
FAM120B	84498	broad.mit.edu	37	6	170657411	170657411	+	Splice_Site	SNP	G	C	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr6:170657411G>C	uc003qxp.3	+	5	2298	c.2190_splice	c.e5+1	p.Q730_splice	FAM120B_uc003qxo.1_Splice_Site_p.Q730_splice|FAM120B_uc011ehd.2_Splice_Site_p.Q62_splice|FAM120B_uc010kla.1_Splice_Site	NM_032448	NP_115824	Q96EK7	F120B_HUMAN	Homo sapiens family with sequence similarity 120B (FAM120B), mRNA.	730					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(2)	44		Breast(66;0.000338)|Esophageal squamous(34;0.241)		OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899)		TCTTTGTCCAGGTAATGTCCA	0.502000														55			4		0	0	0.00024832	0	0
GRIK3	2899	broad.mit.edu	37	1	37356694	37356694	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:37356694C>T	uc001caz.2	-	1	254	c.119G>A	c.(118-120)gGa>gAa	p.G40E	GRIK3_uc001cba.1_Missense_Mutation_p.G40E	NM_000831	NP_000822	Q13003	GRIK3_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 3 (GRIK3), mRNA.	40					negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	G-protein-coupled receptor binding|adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	p.G39V(1)		breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	CTCGAAGATTCCTCCTGTGAA	0.498000														95			25		0	0	0.00047179	0	0
DNAH6	1768	broad.mit.edu	37	2	84806789	84806789	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr2:84806789G>A	uc010fgb.3	+	13	2352	c.2215G>A	c.(2215-2217)Gaa>Aaa	p.E739K	DNAH6_uc002soo.3_Missense_Mutation_p.E318K|DNAH6_uc002sop.3_Missense_Mutation_p.E318K	NM_001370	NP_001361	Q9C0G6	DYH6_HUMAN	Homo sapiens dynein, axonemal, heavy chain 6 (DNAH6), mRNA.	739	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						ATTTCTTGATGAAATTCAGGA	0.358000														61			6		0	0	8.12818e-05	0	0
CUL5	8065	broad.mit.edu	37	11	107966389	107966389	+	Missense_Mutation	SNP	C	G	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr11:107966389C>G	uc001pjv.3	+	15	2543	c.1876C>G	c.(1876-1878)Cct>Gct	p.P626A	CUL5_uc001pju.3_Non-coding_Transcript	NM_003478	NP_003469	Q93034	CUL5_HUMAN	Homo sapiens cullin 5 (CUL5), mRNA.	626					G1/S transition of mitotic cell cycle|cell cycle arrest|cell proliferation|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process|viral reproduction	cullin-RING ubiquitin ligase complex|cytosol	calcium channel activity|receptor activity|ubiquitin protein ligase binding			endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	23		all_cancers(61;7.09e-10)|all_epithelial(67;2.97e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|Melanoma(852;4.48e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;3.58e-05)|Epithelial(105;4.68e-05)|all cancers(92;0.00122)|OV - Ovarian serous cystadenocarcinoma(223;0.217)		AACTGAACTCCCTGATGCTGA	0.388000														144			6		0	0	0.000442599	0	0
EDN2	1907	broad.mit.edu	37	1	41946854	41946854	+	Missense_Mutation	SNP	C	A	A	rs151334316		TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:41946854C>A	uc001cgx.3	-	3	427	c.355G>T	c.(355-357)Ggg>Tgg	p.G119W	EDN2_uc001cgu.3_Intron|EDN2_uc001cgv.3_Non-coding_Transcript|EDN2_uc009vwh.3_5'UTR|EDN2_uc001cgw.3_Intron|EDN2_uc009vwi.3_Non-coding_Transcript|EDN2_uc009vwj.3_Intron	NM_001956	NP_001947	P20800	EDN2_HUMAN	Homo sapiens endothelin 2 (EDN2), mRNA.	119					artery smooth muscle contraction|calcium-mediated signaling|cytokine-mediated signaling pathway|elevation of cytosolic calcium ion concentration|hormonal regulation of the force of heart contraction|inositol phosphate-mediated signaling|macrophage activation|macrophage chemotaxis|neutrophil chemotaxis|positive regulation of cell proliferation|positive regulation of heart rate|positive regulation of leukocyte chemotaxis|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of the force of heart contraction by chemical signal|prostaglandin biosynthetic process|regulation of systemic arterial blood pressure by endothelin|regulation of vasoconstriction|vein smooth muscle contraction	extracellular space	endothelin B receptor binding|hormone activity			endometrium(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	8	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GGGACTGCCCCGGCTTCAGTC	0.637000														40			4		3.59834e-05	0.000594959	3.59834e-05	1	0
YWHAB	7529	broad.mit.edu	37	20	43530320	43530320	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr20:43530320C>T	uc002xmt.3	+	2	428	c.146C>T	c.(145-147)gCc>gTc	p.A49V	YWHAB_uc002xmu.3_Missense_Mutation_p.A49V	NM_003404	NP_647539	P31946	1433B_HUMAN	Homo sapiens tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, beta polypeptide (YWHAB), transcript variant 1, mRNA.	49					Ras protein signal transduction|activation of MAPKK activity|activation of pro-apoptotic gene products|axon guidance|cytoplasmic sequestering of protein|epidermal growth factor receptor signaling pathway|induction of apoptosis by intracellular signals|insulin receptor signaling pathway|mRNA metabolic process|negative regulation of protein dephosphorylation|nerve growth factor receptor signaling pathway	centrosome|cytosol|melanosome|perinuclear region of cytoplasm	histone deacetylase binding|phosphoserine binding|protein domain specific binding			breast(1)|kidney(5)|large_intestine(2)|lung(2)|ovary(1)|urinary_tract(1)	12		Myeloproliferative disorder(115;0.0122)				CTCTCTGTTGCCTACAAGAAT	0.522000														86			13		0	0	0.00010058	0	0
CD55	1604	broad.mit.edu	37	1	207495859	207495859	+	Nonsense_Mutation	SNP	C	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:207495859C>A	uc001hfq.4	+	1	527	c.233C>A	c.(232-234)tCa>tAa	p.S78*	CD55_uc001hfr.4_Nonsense_Mutation_p.S78*|CD55_uc010psf.2_Non-coding_Transcript|CD55_uc009xcf.3_Nonsense_Mutation_p.S78*|CD55_uc009xce.3_Nonsense_Mutation_p.S78*	NM_000574	NP_000565	P08174	DAF_HUMAN	Homo sapiens CD55 molecule, decay accelerating factor for complement (Cromer blood group) (CD55), transcript variant 1, mRNA.	78	Sushi 1.				complement activation, classical pathway|elevation of cytosolic calcium ion concentration|innate immune response|respiratory burst	anchored to membrane|extracellular region|integral to plasma membrane|membrane raft|soluble fraction	receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	16					Chloramphenicol(DB00446)	GAGAAGGACTCAGTGATCTGC	0.423000														110			9		0.000151284	0.00233702	0.000151284	1	0
ADAM30	11085	broad.mit.edu	37	1	120438160	120438160	+	Missense_Mutation	SNP	G	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:120438160G>T	uc001eij.3	-	0	988	c.800C>A	c.(799-801)cCa>cAa	p.P267Q		NM_021794	NP_068566	Q9UKF2	ADA30_HUMAN	Homo sapiens ADAM metallopeptidase domain 30 (ADAM30), mRNA.	267	Peptidase M12B.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		AGCTAACTCTGGATATCCAAC	0.348000														624			19		4.66903e-05	0.000764758	0.000339439	1	0
CBX3	11335	broad.mit.edu	37	7	26246012	26246012	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr7:26246012G>A	uc003sxt.3	+	2	428	c.49G>A	c.(49-51)Gga>Aga	p.G17R	CBX3_uc003sxu.3_Missense_Mutation_p.G17R|CBX3_uc003sxv.3_Missense_Mutation_p.G17R	NM_007276	NP_057671	Q13185	CBX3_HUMAN	Homo sapiens chromobox homolog 3 (CBX3), transcript variant 1, mRNA.	17					chromatin remodeling|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	condensed chromosome, centromeric region|nuclear centromeric heterochromatin|nuclear euchromatin|nuclear inner membrane|spindle	enzyme binding|protein domain specific binding			endometrium(4)|large_intestine(2)|lung(2)|ovary(1)	9						AAAACAGAATGGAAAGAGTAA	0.328000														76			16		0	0	0.00074312	0	0
CD2BP2	10421	broad.mit.edu	37	16	30365935	30365935	+	Missense_Mutation	SNP	G	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr16:30365935G>T	uc002dxr.3	-	0	321	c.68C>A	c.(67-69)cCc>cAc	p.P23H	CD2BP2_uc002dxs.3_Missense_Mutation_p.P23H	NM_001243646	NP_001230575	O95400	CD2B2_HUMAN	Homo sapiens CD2 (cytoplasmic tail) binding protein 2 (CD2BP2), transcript variant 2, mRNA.	23					assembly of spliceosomal tri-snRNP	U5 snRNP|cytoplasm|nucleoplasm	protein binding|ribonucleoprotein binding			breast(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)	15						CTTCTTCTTGGGGACAATGAT	0.567000														302			12		0.000422831	0.00580232	0.000422831	1	0
NRP1	8829	broad.mit.edu	37	10	33552579	33552579	+	Missense_Mutation	SNP	G	C	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr10:33552579G>C	uc001iwx.4	-	3	1176	c.653C>G	c.(652-654)cCt>cGt	p.P218R	NRP1_uc001iwv.4_Missense_Mutation_p.P218R|NRP1_uc001iwy.4_Missense_Mutation_p.P218R|NRP1_uc009xlz.3_Missense_Mutation_p.P218R|NRP1_uc001iww.4_Missense_Mutation_p.P37R|NRP1_uc001iwz.2_Missense_Mutation_p.P218R|NRP1_uc001ixa.2_Missense_Mutation_p.P218R|NRP1_uc001ixb.2_Missense_Mutation_p.P218R|NRP1_uc001ixc.1_Missense_Mutation_p.P218R	NM_003873	NP_003864	O14786	NRP1_HUMAN	Homo sapiens neuropilin 1 (NRP1), transcript variant 1, mRNA.	218	CUB 2.				axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation	extracellular region|integral to membrane|plasma membrane	growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	48					Palifermin(DB00039)|Pegaptanib(DB04895)	CTTACCATCAGGGAATCCATC	0.453000														41			4		0	0	0.000157383	0	0
ZNF254	9534	broad.mit.edu	37	19	24310185	24310186	+	Missense_Mutation	DNP	CT	TC	TC			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr19:24310185_24310186CT>TC	uc002nru.3	+	3	1517_1518	c.1383_1384CT>TC	c.(1381-1386)ccctac>ccTCac	p.Y462H	ZNF254_uc010xrk.2_Missense_Mutation_p.Y377H	NM_203282	NP_975011	O75437	ZN254_HUMAN	Homo sapiens zinc finger protein 254 (ZNF254), mRNA.	462					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding						all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)				GAGAGAAACCCTACAAATGTGA	0.396000														64			9		0	0	6.4e-05	0	0
ADAM21P1	145241	broad.mit.edu	37	14	70713576	70713577	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr14:70713576_70713577GG>AA	uc010ttg.2	-	0	942_943	c.291_292CC>TT	c.(289-294)ttccca>ttTTca	p.P98S						Homo sapiens ADAM metallopeptidase domain 21 pseudogene 1 (ADAM21P1), non-coding RNA.																		CTTGTCATTGGGAAAACATTTC	0.351000														71			8		0	0	6.4e-05	0	0
MET	4233	broad.mit.edu	37	7	116399539	116399539	+	Missense_Mutation	SNP	A	G	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr7:116399539A>G	uc003vij.3	+	9	2546	c.2359A>G	c.(2359-2361)Aca>Gca	p.T787A	MET_uc022akk.1_Missense_Mutation_p.T787A|MET_uc010lkh.3_Missense_Mutation_p.T805A|MET_uc011kng.1_Missense_Mutation_p.T787A|MET_uc011knh.1_Intron|MET_uc011kni.2_Missense_Mutation_p.T787A|MET_uc011knj.2_Missense_Mutation_p.T357A	NM_000245	NP_000236	P08581	MET_HUMAN	Homo sapiens met proto-oncogene (hepatocyte growth factor receptor) (MET), transcript variant 2, mRNA.	787	IPT/TIG 3.				axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			AAGGAACTTTACAGTGGTAAG	0.458000			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)					30			4		0	0	0.00024832	0	0
LRRC8D	55144	broad.mit.edu	37	1	90400872	90400872	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:90400872G>A	uc021opq.1	+	0	2245	c.2245G>A	c.(2245-2247)Gga>Aga	p.G749R	LRRC8D_uc001dnm.3_Missense_Mutation_p.G749R|LRRC8D_uc001dnn.3_Missense_Mutation_p.G749R	NM_018103	NP_060573	Q7L1W4	LRC8D_HUMAN	Homo sapiens leucine rich repeat containing 8 family, member D (LRRC8D), transcript variant 2, mRNA.	749						integral to membrane	protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(2)|skin(1)	29		all_lung(203;0.0894)|Lung NSC(277;0.227)		all cancers(265;0.0109)|Epithelial(280;0.0427)		AATAGAAATAGGATTGCTTCA	0.373000														98			11		0	0	0.00010058	0	0
FLJ43315	644316	broad.mit.edu	37	GL000211.1	91795	91795	+	RNA	SNP	G	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chrGL000211.1:91795G>A	uc003bnz.1	+	6		c.1151G>A			FLJ43315_uc003boa.3_Non-coding_Transcript					Homo sapiens asparagine synthetase pseudogene (FLJ43315), non-coding RNA.																		CAATTTGTATGTTGGATAGTG	0.383000														12			4		0	0	0.00024832	0	0
A1BG	1	broad.mit.edu	37	19	58858888	58858888	+	Missense_Mutation	SNP	C	G	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr19:58858888C>G	uc002qsd.4	-	6	1373	c.1311G>C	c.(1309-1311)gaG>gaC	p.E437D	A1BG-AS1_uc002qse.3_5'Flank	NM_130786	NP_570602	P04217	A1BG_HUMAN	Homo sapiens alpha-1-B glycoprotein (A1BG), mRNA.	437	Ig-like V-type 5.					extracellular region				NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|prostate(2)	15		all_cancers(17;3.04e-16)|all_epithelial(17;7.77e-12)|Lung NSC(17;3.25e-05)|Colorectal(82;5.46e-05)|all_lung(17;0.000129)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(17;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0269)		TCGTCTCGCCCTCGCGCAGCA	0.726000														20			3		0	0	3.59834e-05	0	0
OTOGL	283310	broad.mit.edu	37	12	80732978	80732978	+	Missense_Mutation	SNP	A	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr12:80732978A>T	uc001szd.3	+	41	4963	c.4957A>T	c.(4957-4959)Aca>Tca	p.T1653S		NM_173591	NP_775862			Homo sapiens otogelin-like (OTOGL), mRNA.											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						GTCTCATCTTACAGGAATCAT	0.423000														209			9		0	0	0.000274275	0	0
CEP164	22897	broad.mit.edu	37	11	117280347	117280347	+	Silent	SNP	G	T	T	rs142802684		TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr11:117280347G>T	uc001prc.3	+	29	3909	c.3762G>T	c.(3760-3762)ccG>ccT	p.P1254P	CEP164_uc001prb.3_Silent_p.P1249P|CEP164_uc001prf.3_Intron|CEP164_uc009yzp.1_Non-coding_Transcript|CEP164_uc001prg.1_Silent_p.P679P	NM_014956	NP_055771	Q9UPV0	CE164_HUMAN	Homo sapiens centrosomal protein 164kDa (CEP164), mRNA.	1254					DNA repair|G2/M transition of mitotic cell cycle|cell division|mitosis	centriole|cytosol|nucleus		p.P1254P(2)		breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3)	47	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)		ACTCAACCCCGAGTCTCACCT	0.592000														146			6		9.70103e-10	1.90053e-08	0.000673444	1	0
CBLB	868	broad.mit.edu	37	3	105412384	105412384	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr3:105412384G>A	uc003dwc.3	-	12	2330	c.2008C>T	c.(2008-2010)Cgg>Tgg	p.R670W	CBLB_uc011bhi.2_Missense_Mutation_p.R692W|CBLB_uc003dwd.2_Missense_Mutation_p.R670W|CBLB_uc003dwe.2_Missense_Mutation_p.R670W	NM_170662	NP_733762	Q13191	CBLB_HUMAN	Homo sapiens Cas-Br-M (murine) ecotropic retroviral transforming sequence b (CBLB), mRNA.	670	Pro-rich.				NLS-bearing substrate import into nucleus|cell surface receptor linked signaling pathway	cytoplasm|nucleus	calcium ion binding|ligase activity|signal transducer activity|zinc ion binding	p.R670W(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2)	49						GGAGAAAGCCGGGGAGGAACA	0.413000			Mis S		AML									48			4		0	0	3.59834e-05	0	0
DNAH10	196385	broad.mit.edu	37	12	124382382	124382382	+	Missense_Mutation	SNP	C	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr12:124382382C>A	uc001uft.4	+	53	9017	c.8992C>A	c.(8992-8994)Caa>Aaa	p.Q2998K		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA.	2998	AAA 4 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		CTTGGTTCACCAATCCGTGGA	0.388000														96			7		0.000157383	0.00233702	0.000157383	1	0
PDE7B	27115	broad.mit.edu	37	6	136500203	136500203	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr6:136500203T>C	uc003qgp.3	+	9	1175	c.872T>C	c.(871-873)tTg>tCg	p.L291S	AJ606316_uc003qgq.1_Intron|PDE7B_uc003qgr.3_Missense_Mutation_p.L343S	NM_018945	NP_061818	Q9NP56	PDE7B_HUMAN	Homo sapiens phosphodiesterase 7B (PDE7B), mRNA.	291	Catalytic (By similarity).				signal transduction|synaptic transmission	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(1)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Colorectal(23;0.24)			OV - Ovarian serous cystadenocarcinoma(155;0.0136)|GBM - Glioblastoma multiforme(68;0.0147)	Dyphylline(DB00651)|Ketotifen(DB00920)	AATGAATTTTTGACCAGATTG	0.418000														79			20		0	0	9.7654e-05	0	0
UGGT1	56886	broad.mit.edu	37	2	128892501	128892501	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr2:128892501G>A	uc002tps.3	+	14	1727	c.1549G>A	c.(1549-1551)Gct>Act	p.A517T	UGGT1_uc010fme.1_Missense_Mutation_p.A392T|UGGT1_uc002tpr.3_Missense_Mutation_p.A493T	NM_020120	NP_064505	Q9NYU2	UGGG1_HUMAN	Homo sapiens UDP-glucose glycoprotein glucosyltransferase 1 (UGGT1), transcript variant 1, mRNA.	517					'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine	ER-Golgi intermediate compartment|endoplasmic reticulum lumen	UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding			NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						GATGAACACAGCTGAGATGTT	0.338000														51			7		0	0	0.000157383	0	0
TTN	7273	broad.mit.edu	37	2	179468971	179468971	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr2:179468971C>T	uc021vsy.1	-	230	46964	c.46739G>A	c.(46738-46740)gGa>gAa	p.G15580E	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.G9275E|TTN_uc021vta.1_Missense_Mutation_p.G9208E|TTN_uc021vtb.1_Missense_Mutation_p.G9083E	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	16507	Fibronectin type-III 13.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATCACTGATTCCATATTTATT	0.388000														40			4		0	0	0.00024832	0	0
ABCC9	10060	broad.mit.edu	37	12	21962879	21962879	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr12:21962879C>T	uc001rfh.3	-	34	4242	c.4222G>A	c.(4222-4224)Gat>Aat	p.D1408N	ABCC9_uc001rfi.1_Missense_Mutation_p.D1408N	NM_020297	NP_064693	O60706	ABCC9_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 9 (ABCC9), transcript variant SUR2B, mRNA.	1408	ABC transporter 2.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	CACTCTGGATCTAAATTAAAT	0.328000														70			11		0	0	0.000673444	0	0
PRKCB	5579	broad.mit.edu	37	16	24192138	24192138	+	Silent	SNP	C	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr16:24192138C>T	uc002dmd.3	+	12	1619	c.1422C>T	c.(1420-1422)ctC>ctT	p.L474L	PRKCB_uc002dme.3_Silent_p.L474L	NM_212535	NP_997700	P05771	KPCB_HUMAN	Homo sapiens protein kinase C, beta (PRKCB), transcript variant 1, mRNA.	474	Protein kinase.				B cell activation|B cell receptor signaling pathway|apoptosis|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	ATP binding|androgen receptor binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding			central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Vitamin E(DB00163)	ACGTGATGCTCGATTCTGAGG	0.428000														143			17		0	0	0.00047179	0	0
abParts	0	broad.mit.edu	37	14	106518851	106518851	+	RNA	SNP	C	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr14:106518851C>T	uc021ser.1	-	2194		c.39203G>A								Parts of antibodies, mostly variable regions.																		GCCCCAATTCCATGGTGAGTC	0.498000														178			24		0	0	0.000720815	0	0
ZNF181	339318	broad.mit.edu	37	19	35231583	35231584	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr19:35231583_35231584CC>AA	uc002nvu.3	+	3	760_761	c.297_298CC>AA	c.(295-300)ccccaa>ccAAaa	p.Q100K	ZNF181_uc010xsb.1_Missense_Mutation_p.Q99K|ZNF181_uc010xsc.1_Missense_Mutation_p.Q35K	NM_001029997	NP_001025168	Q2M3W8	ZN181_HUMAN	Homo sapiens zinc finger protein 181 (ZNF181), transcript variant 1, mRNA.	100					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.T99T(1)		endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(1)	22	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)			AAGATTCACCCCAAACAGTAAT	0.302000														154			10		0	0	6.4e-05	0	0
ITGA8	8516	broad.mit.edu	37	10	15561362	15561362	+	Missense_Mutation	SNP	G	T	T	rs141983422		TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr10:15561362G>T	uc001ioc.1	-	28	3032	c.3032C>A	c.(3031-3033)cCa>cAa	p.P1011Q	ITGA8_uc010qcb.1_Missense_Mutation_p.P996Q	NM_003638	NP_003629	P53708	ITA8_HUMAN	Homo sapiens integrin, alpha 8 (ITGA8), mRNA.	1011					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity	p.P1011Q(2)|p.P1011L(2)		NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						TACCCATAATGGGATTGAGAA	0.348000														214			10		0.000442599	0.00580232	0.000442599	1	0
PCNXL2	80003	broad.mit.edu	37	1	233353800	233353800	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:233353800T>C	uc001hvl.2	-	10	2870	c.2635A>G	c.(2635-2637)Agc>Ggc	p.S879G	PCNXL2_uc009xfu.3_Non-coding_Transcript|PCNXL2_uc001hvp.1_Non-coding_Transcript|PCNXL2_uc009xfv.1_Non-coding_Transcript|PCNXL2_uc001hvq.1_Missense_Mutation_p.S178G	NM_014801	NP_055616	A6NKB5	PCX2_HUMAN	Homo sapiens pecanex-like 2 (Drosophila) (PCNXL2), transcript variant 1, mRNA.	879						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				TACTGGCAGCTGGCCATGACG	0.473000														25			3		0	0	6.4e-05	0	0
TNFRSF25	8718	broad.mit.edu	37	1	6525501	6525501	+	Splice_Site	SNP	C	G	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:6525501C>G	uc001anh.3	-	2	248	c.160_splice	c.e2+1	p.G54_splice	TNFRSF25_uc001ana.3_Splice_Site_p.D54_splice|TNFRSF25_uc001anb.3_Splice_Site|TNFRSF25_uc001anc.3_Splice_Site|TNFRSF25_uc001and.3_Splice_Site|TNFRSF25_uc009vlz.3_Splice_Site|TNFRSF25_uc001ane.3_Splice_Site_p.G54_splice|TNFRSF25_uc001anf.3_Splice_Site_p.G54_splice|TNFRSF25_uc001ang.3_Splice_Site_p.A54_splice|TNFRSF25_uc001ani.1_Splice_Site_p.G54_splice	NM_148965	NP_683866	Q93038	TNR25_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 25 (TNFRSF25), transcript variant 1, mRNA.	54					apoptosis|induction of apoptosis by extracellular signals	cytosol|extracellular region|integral to plasma membrane	tumor necrosis factor receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|lung(4)|prostate(1)|stomach(1)	10	Ovarian(185;0.0386)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Acute lymphoblastic leukemia(12;0.00157)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)		Epithelial(90;4.58e-35)|GBM - Glioblastoma multiforme(13;3.06e-27)|Colorectal(212;6.01e-08)|COAD - Colon adenocarcinoma(227;1.3e-05)|Kidney(185;4.88e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000871)|BRCA - Breast invasive adenocarcinoma(365;0.00105)|STAD - Stomach adenocarcinoma(132;0.00158)|READ - Rectum adenocarcinoma(331;0.0419)		GCCACTTACCCGCTGGGCAGC	0.677000														81			5		0	0	0.000274275	0	0
RAF1	5894	broad.mit.edu	37	3	12660099	12660099	+	Missense_Mutation	SNP	C	G	G	rs145611571		TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr3:12660099C>G	uc003bxf.4	-	1	537	c.122G>C	c.(121-123)cGg>cCg	p.R41P	RAF1_uc011auu.2_5'UTR	NM_002880	NP_002871	P04049	RAF1_HUMAN	Homo sapiens v-raf-1 murine leukemia viral oncogene homolog 1 (RAF1), mRNA.	41					Ras protein signal transduction|activation of MAPKK activity|apoptosis|axon guidance|cell proliferation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of protein complex assembly|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of peptidyl-serine phosphorylation|synaptic transmission	cytosol|mitochondrial outer membrane|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|receptor signaling protein activity		ESRP1/RAF1(4)|RAF1/DAZL(2)|SRGAP3/RAF1(6)	biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	32					Sorafenib(DB00398)	ATCTGATGCCCGGCGCTGATA	0.458000			T	SRGAP3	pilocytic astrocytoma				Noonan syndrome					86			5		0	0	3.59834e-05	0	0
ETNK1	55500	broad.mit.edu	37	12	22814072	22814072	+	Silent	SNP	G	C	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr12:22814072G>C	uc001rft.3	+	3	922	c.900G>C	c.(898-900)ctG>ctC	p.L300L	ETNK1_uc009ziz.3_Silent_p.L300L	NM_018638	NP_061108	Q9HBU6	EKI1_HUMAN	Homo sapiens ethanolamine kinase 1 (ETNK1), transcript variant 1, mRNA.	300					phosphatidylethanolamine biosynthetic process	cytoplasm	ATP binding|ethanolamine kinase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						TTTCCAACCTGGGCTCACCTG	0.373000														99			7		0	0	8.12818e-05	0	0
RPS6KA3	6197	broad.mit.edu	37	X	20181084	20181084	+	Silent	SNP	G	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chrX:20181084G>T	uc004czu.3	-	18	1839	c.1839C>A	c.(1837-1839)acC>acA	p.T613T	RPS6KA3_uc011mjk.2_Silent_p.T583T|RPS6KA3_uc004czv.3_Silent_p.T600T|RPS6KA3_uc011mjl.2_Silent_p.T584T|RPS6KA3_uc011mjm.2_Silent_p.T585T	NM_004586	NP_004577	P51812	KS6A3_HUMAN	Homo sapiens ribosomal protein S6 kinase, 90kDa, polypeptide 3 (RPS6KA3), mRNA.	613	Protein kinase 2.				MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|axon guidance|central nervous system development|innate immune response|nerve growth factor receptor signaling pathway|skeletal system development|stress-activated MAPK cascade|synaptic transmission|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|caspase inhibitor activity|magnesium ion binding|protein serine/threonine kinase activity			breast(4)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(14)|lung(7)|ovary(1)|stomach(1)	41						ACACTCACCCGGTAAGCATTG	0.343000														162			6		0.000673444	0.00850193	0.000673444	1	0
CHD9	80205	broad.mit.edu	37	16	53243605	53243605	+	Missense_Mutation	SNP	C	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr16:53243605C>A	uc002ehb.3	+	1	1828	c.1664C>A	c.(1663-1665)cCt>cAt	p.P555H	CHD9_uc002egy.3_Missense_Mutation_p.P555H|CHD9_uc002egz.1_Missense_Mutation_p.P555H|CHD9_uc002ehc.3_Missense_Mutation_p.P555H|CHD9_uc002ehd.2_Missense_Mutation_p.P81H	NM_025134	NP_079410	Q3L8U1	CHD9_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 9 (CHD9), mRNA.	555					cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				GAAAACTTTCCTACTGCTTCA	0.393000														87			8		0.000157383	0.00233702	0.000157383	1	0
PIP5K1C	23396	broad.mit.edu	37	19	3667345	3667345	+	Missense_Mutation	SNP	G	C	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr19:3667345G>C	uc002lyj.2	-	1	190	c.101C>G	c.(100-102)gCt>gGt	p.A34G	PIP5K1C_uc010xhq.2_Missense_Mutation_p.A34G|PIP5K1C_uc010xhr.2_Missense_Mutation_p.A34G	NM_012398	NP_036530	O60331	PI51C_HUMAN	Homo sapiens phosphatidylinositol-4-phosphate 5-kinase, type I, gamma (PIP5K1C), transcript variant 2, mRNA.	34					axon guidance	cytosol|plasma membrane	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding			large_intestine(3)|ovary(1)|skin(3)|stomach(2)	9		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.95e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0026)|STAD - Stomach adenocarcinoma(1328;0.183)		CTTCTTCTGAGCCAAACCTGC	0.657000														40			3		0	0	3.59834e-05	0	0
DPYSL3	1809	broad.mit.edu	37	5	146781108	146781108	+	Silent	SNP	C	G	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr5:146781108C>G	uc003loo.3	-	8	1503	c.1305G>C	c.(1303-1305)ctG>ctC	p.L435L	DPYSL3_uc003lon.1_Silent_p.L321L	NM_001197294	NP_001184223	Q14195	DPYL3_HUMAN	Homo sapiens dihydropyrimidinase-like 3 (DPYSL3), transcript variant 1, mRNA.	321					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol|growth cone	dihydropyrimidinase activity			breast(2)|endometrium(1)|kidney(4)|large_intestine(6)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCAACCTGGCCAGCAAGGAGT	0.547000														31			4		0	0	0.000157383	0	0
SLC8A3	6547	broad.mit.edu	37	14	70517735	70517735	+	Silent	SNP	G	C	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr14:70517735G>C	uc001xly.3	-	5	2875	c.2121C>G	c.(2119-2121)acC>acG	p.T707T	SLC8A3_uc001xlv.3_Silent_p.T78T|SLC8A3_uc001xlu.3_Silent_p.T64T|SLC8A3_uc001xlw.3_Silent_p.T704T|SLC8A3_uc001xlx.3_Silent_p.T705T|SLC8A3_uc001xlz.3_Silent_p.T701T|SLC8A3_uc010ara.3_Non-coding_Transcript|SLC8A3_uc001xma.2_Silent_p.T64T	NM_183002	NP_892114	P57103	NAC3_HUMAN	Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 3 (SLC8A3), transcript variant c, mRNA.	707					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		CTGCACTGACGGTGATGGCCT	0.547000														44			5		0	0	8.12818e-05	0	0
C1orf101	257044	broad.mit.edu	37	1	244798794	244798794	+	Silent	SNP	C	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:244798794C>T	uc001iam.3	+	20	2711	c.2652C>T	c.(2650-2652)ttC>ttT	p.F884F	C1orf101_uc001ial.3_Silent_p.L832L|C1orf101_uc010pym.2_Silent_p.F733F|C1orf101_uc010pyn.2_Silent_p.F817F	NM_001130957	NP_001124429	Q5SY80	CA101_HUMAN	Homo sapiens chromosome 1 open reading frame 101 (C1orf101), transcript variant 1, mRNA.	884						integral to membrane				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	36	all_cancers(71;2.99e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)		all cancers(7;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.001)|GBM - Glioblastoma multiforme(7;0.0154)			TTTGCAGTTTCTGTAACCTAA	0.348000														79			8		0	0	0.000442599	0	0
GPR124	25960	broad.mit.edu	37	8	37688264	37688264	+	Missense_Mutation	SNP	C	G	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr8:37688264C>G	uc003xkj.3	+	6	1141	c.755C>G	c.(754-756)cCg>cGg	p.P252R	GPR124_uc010lvy.3_Missense_Mutation_p.P252R	NM_032777	NP_116166	Q96PE1	GP124_HUMAN	Homo sapiens G protein-coupled receptor 124 (GPR124), mRNA.	252	Ig-like.				central nervous system development|endothelial cell migration|neuropeptide signaling pathway|regulation of angiogenesis|regulation of chemotaxis|sprouting angiogenesis	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37			BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			CACCTCATCCCGTCCCTACGC	0.652000														7			4		0	0	3.59834e-05	0	0
MRE11A	4361	broad.mit.edu	37	11	94201008	94201008	+	Missense_Mutation	SNP	G	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr11:94201008G>T	uc009ywj.2	-	9	1398	c.1078C>A	c.(1078-1080)Cag>Aag	p.Q360K	MRE11A_uc001peu.2_Missense_Mutation_p.Q357K|MRE11A_uc001pev.2_Missense_Mutation_p.Q357K			P49959	MRE11_HUMAN	Homo sapiens MRE11 meiotic recombination 11 homolog A (S. cerevisiae) (MRE11A), transcript variant 1, mRNA.	357					DNA duplex unwinding|double-strand break repair via homologous recombination|double-strand break repair via nonhomologous end joining|negative regulation of DNA endoreduplication|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|sister chromatid cohesion|telomere maintenance via telomerase	Mre11 complex|nucleoplasm	3'-5' exonuclease activity|double-stranded DNA binding|manganese ion binding|protein C-terminus binding|single-stranded DNA specific endodeoxyribonuclease activity			breast(5)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	29		Acute lymphoblastic leukemia(157;2.37e-05)|all_hematologic(158;0.00824)				TTCTCTGGCTGGTGAGAATTA	0.323000								Homologous recombination	Ataxia-Telangiectasia-Like Disorder					134			9		0.000442599	0.00580232	0.000442599	1	0
KCNF1	3754	broad.mit.edu	37	2	11052795	11052795	+	Missense_Mutation	SNP	G	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr2:11052795G>T	uc002rax.3	+	0	733	c.243G>T	c.(241-243)agG>agT	p.R81S		NM_002236	NP_002227	Q9H3M0	KCNF1_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily F, member 1 (KCNF1), mRNA.	81						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(2)|skin(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.128)		ACTTTGACAGGGACCCGGACG	0.577000														51			5		0.000274275	0.00385584	0.000274275	1	0
TNIK	23043	broad.mit.edu	37	3	170856098	170856098	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr3:170856098C>T	uc003fhh.2	-	14	1835	c.1490G>A	c.(1489-1491)aGa>aAa	p.R497K	TNIK_uc003fhi.2_Missense_Mutation_p.R497K|TNIK_uc003fhj.2_Missense_Mutation_p.R468K|TNIK_uc003fhk.2_Missense_Mutation_p.R497K|TNIK_uc003fhl.2_Missense_Mutation_p.R468K|TNIK_uc003fhm.2_Missense_Mutation_p.R497K|TNIK_uc003fhn.2_Missense_Mutation_p.R468K|TNIK_uc003fho.2_Missense_Mutation_p.R468K	NM_015028	NP_055843	Q9UKE5	TNIK_HUMAN	Homo sapiens TRAF2 and NCK interacting kinase (TNIK), transcript variant 1, mRNA.	497	Mediates interaction with NEDD4.				Wnt receptor signaling pathway|actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			TAAGTAGTCTCTTTCTTGCTT	0.463000														37			5		0	0	0.000602214	0	0
KCNMB4	27345	broad.mit.edu	37	12	70794062	70794062	+	Missense_Mutation	SNP	G	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr12:70794062G>T	uc001svx.3	+	1	863	c.410G>T	c.(409-411)tGg>tTg	p.W137L		NM_014505	NP_055320	Q86W47	KCMB4_HUMAN	Homo sapiens potassium large conductance calcium-activated channel, subfamily M, beta member 4 (KCNMB4), mRNA.	137					detection of calcium ion|platelet activation|regulation of action potential in neuron|regulation of neurotransmitter secretion|regulation of vasoconstriction|synaptic transmission	voltage-gated potassium channel complex	calcium-activated potassium channel activity|protein binding			kidney(1)|large_intestine(4)|lung(5)	10	Renal(347;0.236)		Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118)			CAACAGTACTGGAAAGATGAG	0.348000														145			8		2.17888e-05	0.000371685	0.000442599	1	0
EXOC7	23265	broad.mit.edu	37	17	74090658	74090658	+	Silent	SNP	G	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr17:74090658G>A	uc002jqs.3	-	5	740	c.645C>T	c.(643-645)ttC>ttT	p.F215F	EXOC7_uc010dgv.2_Silent_p.F162F|EXOC7_uc010wsv.2_Silent_p.F174F|EXOC7_uc010wsw.2_Silent_p.F215F|EXOC7_uc002jqq.3_Silent_p.F215F|EXOC7_uc010wsx.2_Silent_p.F215F|EXOC7_uc002jqr.3_Silent_p.F215F|EXOC7_uc002jqu.2_Silent_p.F215F	NM_001145297	NP_001138769	Q9UPT5	EXOC7_HUMAN	Homo sapiens exocyst complex component 7 (EXOC7), transcript variant 4, mRNA.	215					exocytosis|protein transport	centriolar satellite|cytosol|exocyst|plasma membrane	protein binding			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	14			LUSC - Lung squamous cell carcinoma(166;0.187)			AGACGTTCATGAAATCTGAGG	0.532000														84			9		0	0	0.000673444	0	0
RECK	8434	broad.mit.edu	37	9	36110025	36110025	+	Missense_Mutation	SNP	C	G	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr9:36110025C>G	uc003zyv.3	+	14	1923	c.1837C>G	c.(1837-1839)Cgc>Ggc	p.R613G	RECK_uc003zyw.3_Missense_Mutation_p.R485G|RECK_uc003zyx.3_Non-coding_Transcript	NM_021111	NP_066934	O95980	RECK_HUMAN	Homo sapiens reversion-inducing-cysteine-rich protein with kazal motifs (RECK), mRNA.	613						anchored to membrane|peripheral to membrane of membrane fraction|plasma membrane	metalloendopeptidase inhibitor activity|serine-type endopeptidase inhibitor activity	p.R613S(2)		cervix(1)|endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228)			GTGCTCTACCCGCCTTTGCCT	0.473000														111			5		0	0	0.000602214	0	0
ZNF845	91664	broad.mit.edu	37	19	53855196	53855196	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr19:53855196T>C	uc010ydv.1	+	3	1385	c.1268T>C	c.(1267-1269)aTg>aCg	p.M423T	ZNF845_uc010ydw.1_Missense_Mutation_p.M423T	NM_138374	NP_612383	Q96IR2	ZN845_HUMAN	Homo sapiens zinc finger protein 845 (ZNF845), mRNA.	423					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						TTCAGTCAGATGTCATCCCTT	0.408000														174			6		0	0	8.12818e-05	0	0
ASB1	51665	broad.mit.edu	37	2	239353336	239353336	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr2:239353336C>T	uc002vyg.3	+	3	934	c.848C>T	c.(847-849)cCt>cTt	p.P283L		NM_001040445	NP_001035535	Q9Y576	ASB1_HUMAN	Homo sapiens ankyrin repeat and SOCS box containing 1 (ASB1), mRNA.	283					intracellular signal transduction|negative regulation of cytokine biosynthetic process					breast(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	8		all_epithelial(40;2.65e-14)|Breast(86;7.61e-05)|Renal(207;0.00183)|all_lung(227;0.0283)|Ovarian(221;0.0365)|Lung NSC(271;0.0941)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;2.04e-26)|OV - Ovarian serous cystadenocarcinoma(60;4.5e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.88e-05)|Lung(119;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00644)		AAAGTGGACCCTGAGGCCTTG	0.498000														77			12		0	0	6.40141e-05	0	0
TOP2A	7153	broad.mit.edu	37	17	38555077	38555077	+	Missense_Mutation	SNP	C	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr17:38555077C>A	uc002huq.3	-	25	3560	c.3401G>T	c.(3400-3402)tGg>tTg	p.W1134L	RARA_uc021txb.1_Intron	NM_001067	NP_001058	P11388	TOP2A_HUMAN	Homo sapiens topoisomerase (DNA) II alpha 170kDa (TOP2A), mRNA.	1134					DNA ligation|DNA repair|DNA topological change|DNA-dependent DNA replication|apoptotic chromosome condensation|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|phosphatidylinositol-mediated signaling|positive regulation of apoptosis|positive regulation of retroviral genome replication|resolution of meiotic recombination intermediates|sister chromatid segregation	DNA topoisomerase complex (ATP-hydrolyzing)|cytoplasm|nucleolus|nucleoplasm|synaptonemal complex	ATP binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|chromatin binding|drug binding|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity|ubiquitin binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(9)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	39		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00183)		Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Gatifloxacin(DB01044)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385)	GGTTAAATACCAAAGGGGCAT	0.378000														151			9		0.000442599	0.00580232	0.000442599	1	0
SMC1B	27127	broad.mit.edu	37	22	45749929	45749929	+	Missense_Mutation	SNP	G	C	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr22:45749929G>C	uc003bgc.3	-	20	3254	c.3202C>G	c.(3202-3204)Cag>Gag	p.Q1068E	SMC1B_uc003bgd.3_Missense_Mutation_p.Q1068E	NM_148674	NP_683515	Q8NDV3	SMC1B_HUMAN	Homo sapiens structural maintenance of chromosomes 1B (SMC1B), mRNA.	1068					chromosome organization|meiosis	chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus	ATP binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		TCAAAACACTGGGTGAAAAGA	0.413000														134			6		0	0	0.000157383	0	0
CTSL2	1515	broad.mit.edu	37	9	99797110	99797110	+	Missense_Mutation	SNP	G	C	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr9:99797110G>C	uc010msi.3	-	6	1010	c.803C>G	c.(802-804)cCa>cGa	p.P268R	CTSL2_uc004awt.3_Missense_Mutation_p.P268R|CTSL2_uc004awu.3_Missense_Mutation_p.P213R|CTSL2_uc010msj.2_Missense_Mutation_p.P213R	NM_001201575	NP_001188504	O60911	CATL2_HUMAN	Homo sapiens cathepsin L2 (CTSL2), transcript variant 2, mRNA.	268						lysosome	cysteine-type endopeptidase activity			endometrium(4)|kidney(1)|large_intestine(8)|lung(4)|prostate(1)|skin(1)	19		Acute lymphoblastic leukemia(62;0.0559)				GCTGCAGTCTGGTTCAAAATA	0.478000														110			6		0	0	3.59834e-05	0	0
FCHSD2	9873	broad.mit.edu	37	11	72560920	72560920	+	Silent	SNP	G	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr11:72560920G>T	uc009ytl.3	-	13	1544	c.1323C>A	c.(1321-1323)acC>acA	p.T441T	FCHSD2_uc010rrg.2_Silent_p.T305T|FCHSD2_uc001oth.4_Silent_p.T385T|FCHSD2_uc001oti.2_Silent_p.T400T	NM_014824	NP_055639	O94868	FCSD2_HUMAN	Homo sapiens FCH and double SH3 domains 2 (FCHSD2), mRNA.	441							protein binding			endometrium(2)|large_intestine(11)|lung(5)|ovary(2)|prostate(1)|skin(1)	22			BRCA - Breast invasive adenocarcinoma(5;3.3e-05)			CTTCTCTTTCGGTATCTGCAT	0.388000														293			13		3.45872e-05	0.000584306	0.000422831	1	0
CCDC13	152206	broad.mit.edu	37	3	42799644	42799644	+	Missense_Mutation	SNP	G	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr3:42799644G>T	uc003cly.4	-	1	278	c.194C>A	c.(193-195)cCa>cAa	p.P65Q	CCDC13_uc003clz.2_Missense_Mutation_p.P65Q|CCDC13_uc011azq.1_Missense_Mutation_p.P65Q	NM_144719	NP_653320	Q8IYE1	CCD13_HUMAN	Homo sapiens coiled-coil domain containing 13 (CCDC13), mRNA.	65										endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	25						TTTCGAGTTTGGCTCCCCTGC	0.498000														106			7		0.000274275	0.00385584	0.000274275	1	0
FAM172A	83989	broad.mit.edu	37	5	93410361	93410361	+	Silent	SNP	G	C	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr5:93410361G>C	uc010jbd.3	-	1	303	c.96C>G	c.(94-96)acC>acG	p.T32T	FAM172A_uc011cuf.2_Intron|FAM172A_uc011cug.2_Intron|FAM172A_uc011cuh.2_5'UTR|FAM172A_uc011cui.2_Non-coding_Transcript|FAM172A_uc011cuj.2_Intron|FAM172A_uc003kkm.4_Silent_p.T32T	NM_032042	NP_001156889	Q8WUF8	F172A_HUMAN	Homo sapiens family with sequence similarity 172, member A (FAM172A), transcript variant 1, mRNA.	32						endoplasmic reticulum|extracellular region		p.T32T(2)		endometrium(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	9						CTTTCAGTGCGGTAGTCTTTT	0.358000														75			5		0	0	3.59834e-05	0	0
COPG2	26958	broad.mit.edu	37	7	130301862	130301862	+	Splice_Site	SNP	T	G	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr7:130301862T>G	uc003vqh.1	-	6	489	c.399_splice	c.e6+1	p.D133_splice		NM_012133	NP_036265	Q9UBF2	COPG2_HUMAN	Homo sapiens coatomer protein complex, subunit gamma 2 (COPG2), mRNA.	133					intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat	protein binding|structural molecule activity			large_intestine(1)	1	Melanoma(18;0.0435)					ATAACTTACATCGGTGATCCT	0.403000														226			36		0	0	0.000814825	0	0
CRB1	23418	broad.mit.edu	37	1	197404013	197404013	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:197404013G>A	uc001gtz.3	+	8	3229	c.3020G>A	c.(3019-3021)aGa>aAa	p.R1007K	CRB1_uc010poz.2_Missense_Mutation_p.R983K|CRB1_uc009wza.3_Missense_Mutation_p.R895K|CRB1_uc010ppa.2_Non-coding_Transcript|CRB1_uc010ppb.2_Intron|CRB1_uc010ppd.2_Missense_Mutation_p.R488K|CRB1_uc001gub.1_Missense_Mutation_p.R656K	NM_201253	NP_957705	P82279	CRUM1_HUMAN	Homo sapiens crumbs homolog 1 (Drosophila) (CRB1), transcript variant 1, mRNA.	1007	Laminin G-like 3.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						CAAGATTCCAGATTATTCTTT	0.368000														94			8		0	0	0.000157383	0	0
UMOD	7369	broad.mit.edu	37	16	20359606	20359606	+	Missense_Mutation	SNP	C	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr16:20359606C>A	uc002dhb.3	-	4	1140	c.1011G>T	c.(1009-1011)gaG>gaT	p.E337D	UMOD_uc002dgz.3_Missense_Mutation_p.E304D|UMOD_uc002dha.3_Missense_Mutation_p.E304D	NM_003361	NP_003352	P07911	UROM_HUMAN	Homo sapiens uromodulin (UMOD), transcript variant 1, mRNA.	304	ZP.				cellular defense response|negative regulation of cell proliferation	anchored to membrane|apical plasma membrane|basolateral plasma membrane|cilium membrane|extrinsic to membrane|primary cilium|spindle pole	calcium ion binding			endometrium(5)|kidney(1)|large_intestine(7)|lung(20)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						ATTTGCAGTCCTCGTCTATAC	0.557000														189			9		9.31168e-06	0.000162005	0.000151284	1	0
CPAMD8	27151	broad.mit.edu	37	19	17039886	17039886	+	Missense_Mutation	SNP	C	G	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr19:17039886C>G	uc002nfb.3	-	23	3183	c.3151G>C	c.(3151-3153)Ggg>Cgg	p.G1051R		NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN	Homo sapiens C3 and PZP-like, alpha-2-macroglobulin domain containing 8 (CPAMD8), mRNA.	1004						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						TTCTGATGCCCCCCCAGGACG	0.592000														38			4		0	0	0.00024832	0	0
TPTE2	93492	broad.mit.edu	37	13	20056679	20056679	+	Missense_Mutation	SNP	T	G	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr13:20056679T>G	uc001umd.3	-	4	339	c.128A>C	c.(127-129)gAa>gCa	p.E43A	TPTE2_uc009zzk.3_Intron|TPTE2_uc009zzl.3_Missense_Mutation_p.E43A|TPTE2_uc001ume.3_Intron|TPTE2_uc009zzm.3_Intron|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.	43						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	p.E43A(1)		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)		GGAAAGTCGTTCTAACATACT	0.313000														156			7		0	0	8.12818e-05	0	0
FAM115A	9747	broad.mit.edu	37	7	143573425	143573425	+	Missense_Mutation	SNP	C	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr7:143573425C>A	uc003wdo.2	-	1	410	c.277G>T	c.(277-279)Ggt>Tgt	p.G93C	FAM115A_uc011ktu.2_Intron|FAM115A_uc003wdp.2_Missense_Mutation_p.G93C	NM_014719	NP_001193870	Q9Y4C2	F115A_HUMAN	Homo sapiens family with sequence similarity 115, member A (FAM115A), transcript variant 1, mRNA.	93										NS(1)|endometrium(1)|lung(5)	7	Melanoma(164;0.0903)					GGGTGTACACCAATGGGAGCC	0.582000														66			6		8.12818e-05	0.00127893	8.12818e-05	1	0
AMOT	154796	broad.mit.edu	37	X	112053139	112053139	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chrX:112053139G>A	uc004epr.3	-	3	1631	c.1613C>T	c.(1612-1614)tCg>tTg	p.S538L	AMOT_uc004eps.3_Missense_Mutation_p.S129L|AMOT_uc004ept.1_Missense_Mutation_p.S538L	NM_001113490	NP_573572	Q4VCS5	AMOT_HUMAN	Homo sapiens angiomotin (AMOT), transcript variant 1, mRNA.	538					actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration	actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction	angiostatin binding|protein binding|receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						AAAGAGCTGCGAGATGGTTTT	0.458000														195			45		0	0	0.000781405	0	0
PLXNB2	23654	broad.mit.edu	37	22	50727178	50727178	+	Missense_Mutation	SNP	C	G	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr22:50727178C>G	uc003bkv.4	-	4	1467	c.1374G>C	c.(1372-1374)caG>caC	p.Q458H		NM_012401	NP_036533	O15031	PLXB2_HUMAN	Homo sapiens plexin B2 (PLXNB2), mRNA.	458	Sema.				regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		TCACCTTGTCCTGGGTCATGG	0.607000														38			3		0	0	3.59834e-05	0	0
PRR12	57479	broad.mit.edu	37	19	50097748	50097748	+	Silent	SNP	G	C	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr19:50097748G>C	uc002poo.4	+	2	237	c.237G>C	c.(235-237)gcG>gcC	p.A79A		NM_020719	NP_065770	Q9ULL5	PRR12_HUMAN	Homo sapiens proline rich 12 (PRR12), mRNA.	480	Pro-rich.						DNA binding	p.A79A(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		TCCACCACGCGGGCTCAGCAG	0.657000														106			5		0	0	0.000157383	0	0
CACNA1B	774	broad.mit.edu	37	9	140870416	140870416	+	Missense_Mutation	SNP	A	G	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr9:140870416A>G	uc004cog.3	+	11	1746	c.1601A>G	c.(1600-1602)tAt>tGt	p.Y534C	CACNA1B_uc022bqn.1_Missense_Mutation_p.Y534C|CACNA1B_uc011mfd.2_Missense_Mutation_p.Y136C	NM_000718	NP_000709	Q00975	CAC1B_HUMAN	Homo sapiens calcium channel, voltage-dependent, N type, alpha 1B subunit (CACNA1B), transcript variant 1, mRNA.	534					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	CTGAAGATGTATGGCCTGGGG	0.552000														38			3		0	0	6.4e-05	0	0
TRIOBP	11078	broad.mit.edu	37	22	38151612	38151612	+	Missense_Mutation	SNP	G	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr22:38151612G>T	uc003atr.3	+	14	5904	c.5633G>T	c.(5632-5634)tGg>tTg	p.W1878L	TRIOBP_uc003atu.3_Missense_Mutation_p.W1706L|TRIOBP_uc003atv.3_Missense_Mutation_p.W165L|TRIOBP_uc003atw.3_Missense_Mutation_p.W165L|TRIOBP_uc003atx.1_5'Flank|TRIOBP_uc010gxh.3_5'Flank	NM_001039141	NP_001034230	Q9H2D6	TARA_HUMAN	Homo sapiens TRIO and F-actin binding protein (TRIOBP), transcript variant 6, mRNA.	1878	PH.				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)					CGGCGGAACTGGATCGAGGCT	0.577000														51			5		1.12685e-05	0.000194597	0.000274275	1	0
MSI1	4440	broad.mit.edu	37	12	120789176	120789176	+	Missense_Mutation	SNP	G	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr12:120789176G>T	uc001tye.1	-	10	825	c.761C>A	c.(760-762)cCg>cAg	p.P254Q		NM_002442	NP_002433	O43347	MSI1H_HUMAN	Homo sapiens musashi homolog 1 (Drosophila) (MSI1), mRNA.	254					nervous system development	cytoplasm|nucleus	nucleotide binding			breast(4)|central_nervous_system(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(5)|skin(2)	19	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TGGGGCGCTCGGGAGAGGGGT	0.562000														15			4		3.59834e-05	0.000594959	3.59834e-05	1	0
EP400	57634	broad.mit.edu	37	12	132490681	132490681	+	Missense_Mutation	SNP	G	C	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr12:132490681G>C	uc001ujn.3	+	13	3112	c.2960G>C	c.(2959-2961)aGg>aCg	p.R987T	EP400_uc021rgq.1_Missense_Mutation_p.R986T|EP400_uc001ujm.3_Missense_Mutation_p.R987T	NM_015409	NP_056224	Q96L91	EP400_HUMAN	Homo sapiens E1A binding protein p400 (EP400), mRNA.	1023	Interactions with RUVBL1 and RUVBL2.				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		CCAGGCGACAGGGAGAGTCGC	0.458000														46			5		0	0	3.59834e-05	0	0
ZNF484	83744	broad.mit.edu	37	9	95618560	95618560	+	Missense_Mutation	SNP	C	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr9:95618560C>A	uc004asu.1	-	2	205	c.56G>T	c.(55-57)aGg>aTg	p.R19M	ANKRD19P_uc004asr.4_Intron|ZNF484_uc011lub.1_Missense_Mutation_p.R21M|ZNF484_uc004asv.1_5'UTR|ZNF484_uc010mrb.1_5'UTR	NM_031486	NP_001007102	Q5JVG2	ZN484_HUMAN	Homo sapiens zinc finger protein 484 (ZNF484), transcript variant 1, mRNA.	19	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R19S(1)		NS(1)|breast(1)|cervix(1)|kidney(8)|large_intestine(10)|lung(10)|prostate(2)	33						CCACTCATCCCTACTGAAGTC	0.343000														138			8		1.06961e-07	2.04675e-06	0.000157383	1	0
ANKRD50	57182	broad.mit.edu	37	4	125590177	125590177	+	Missense_Mutation	SNP	G	C	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr4:125590177G>C	uc010inw.3	-	3	5293	c.4255C>G	c.(4255-4257)Cct>Gct	p.P1419A	ANKRD50_uc011cgo.2_Missense_Mutation_p.P1240A	NM_020337	NP_001161354	Q9ULJ7	ANR50_HUMAN	Homo sapiens ankyrin repeat domain 50 (ANKRD50), transcript variant 1, mRNA.	1419										NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						TTGAAGCTAGGGTCAGAACCT	0.383000														55			4		0	0	3.59834e-05	0	0
MYH9	4627	broad.mit.edu	37	22	36690179	36690179	+	Missense_Mutation	SNP	G	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr22:36690179G>T	uc003apg.3	-	27	4027	c.3796C>A	c.(3796-3798)Cgc>Agc	p.R1266S		NM_002473	NP_002464	P35579	MYH9_HUMAN	Homo sapiens myosin, heavy chain 9, non-muscle (MYH9), mRNA.	1266					actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	ADP binding|ATP binding|actin filament binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						GTGCGCACGCGCTCTCCCTCG	0.657000			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated					97			5		0.000442599	0.00580232	0.000442599	1	0
CASP8AP2	9994	broad.mit.edu	37	6	90576383	90576383	+	Missense_Mutation	SNP	C	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr6:90576383C>A	uc003pnr.3	+	7	3570	c.3374C>A	c.(3373-3375)cCa>cAa	p.P1125Q	CASP8AP2_uc003pns.2_Intron|CASP8AP2_uc003pnt.3_Missense_Mutation_p.P1125Q|CASP8AP2_uc011dzz.2_Missense_Mutation_p.P1125Q	NM_001137667	NP_001131139	Q9UKL3	C8AP2_HUMAN	Homo sapiens caspase 8 associated protein 2 (CASP8AP2), transcript variant 2, mRNA.	1125					cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasm|nucleus	caspase activator activity|death receptor binding|transcription corepressor activity			NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2)	51		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0953)		CAGCAACTACCAGATATGAAA	0.313000														60			6		0.000442599	0.00580232	0.000442599	1	0
AHCTF1	25909	broad.mit.edu	37	1	247063445	247063445	+	Nonsense_Mutation	SNP	C	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:247063445C>A	uc001ibv.2	-	9	1478	c.1381G>T	c.(1381-1383)Gag>Tag	p.E461*	AHCTF1_uc009xgs.1_5'Flank	NM_015446	NP_056261	Q8WYP5	ELYS_HUMAN	Homo sapiens AT hook containing transcription factor 1 (AHCTF1), mRNA.	452	Necessary for cytoplasmic localization (By similarity).				cytokinesis|mRNA transport|mitotic prometaphase|nuclear pore complex assembly|protein transport|transmembrane transport	condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm	DNA binding	p.P460S(1)		NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			AAACTTCTCTCATGTACTAAT	0.368000														196			12		0.000566183	0.00740858	0.000566183	1	0
NIPAL4	348938	broad.mit.edu	37	5	156899403	156899403	+	Missense_Mutation	SNP	C	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr5:156899403C>A	uc003lwx.4	+	5	952	c.836C>A	c.(835-837)cCa>cAa	p.P279Q	ADAM19_uc003lww.2_Intron|NIPAL4_uc011ddq.2_Missense_Mutation_p.P260Q	NM_001099287	NP_001092757	Q0D2K0	NIPA4_HUMAN	Homo sapiens NIPA-like domain containing 4 (NIPAL4), transcript variant 1, mRNA.	279						integral to membrane	receptor activity			breast(3)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|skin(1)	22						GTCATTGCCCCACGTTACGGG	0.527000											OREG0016979	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		206			11		4.3838e-07	8.19794e-06	0.000151284	1	0
CCDC96	257236	broad.mit.edu	37	4	7044163	7044163	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr4:7044163T>C	uc003gjv.2	-	0	566	c.503A>G	c.(502-504)gAg>gGg	p.E168G	LOC100129931_uc021xld.1_Intron|TADA2B_uc003gjw.4_5'Flank|TADA2B_uc010idi.3_5'Flank	NM_153376	NP_699207	Q2M329	CCD96_HUMAN	Homo sapiens coiled-coil domain containing 96 (CCDC96), mRNA.	168	Glu-rich.									endometrium(3)|kidney(1)|large_intestine(3)|lung(2)|skin(1)|urinary_tract(1)	11						gtcctcttcctccccctccac	0.657000														48			3		0	0	3.59834e-05	0	0
SPARCL1	8404	broad.mit.edu	37	4	88411452	88411453	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr4:88411452_88411453GG>TT	uc010ikm.3	-	7	2075_2076	c.1503_1504CC>AA	c.(1501-1506)ctccag>ctAAag	p.Q502K	SPARCL1_uc011cdc.2_Missense_Mutation_p.Q377K|SPARCL1_uc003hqs.4_Missense_Mutation_p.Q502K|SPARCL1_uc011cdd.2_Missense_Mutation_p.Q377K	NM_001128310	NP_004675	Q14515	SPRL1_HUMAN	Homo sapiens SPARC-like 1 (hevin) (SPARCL1), transcript variant 1, mRNA.	502	Kazal-like.				signal transduction	extracellular space|proteinaceous extracellular matrix	calcium ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(2)	21				OV - Ovarian serous cystadenocarcinoma(123;0.00118)		TAATCCAGCTGGAGTTGATGCC	0.460000														165			8		0	0	6.4e-05	0	0
FOLH1B	219595	broad.mit.edu	37	11	89420530	89420530	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr11:89420530G>A	uc001pda.3	+	8	1058	c.532G>A	c.(532-534)Gaa>Aaa	p.E178K		NM_153696	NP_710163	Q9HBA9	FOH1B_HUMAN	Homo sapiens folate hydrolase 1B (FOLH1B), mRNA.	178					proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity	p.E178K(2)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						AAGCCCTGATGAAGGCTTTGA	0.343000														54			7		0	0	0.000157383	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140202275	140202275	+	Silent	SNP	G	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr5:140202275G>A	uc003lhl.2	+	0	915	c.915G>A	c.(913-915)ggG>ggA	p.G305G	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.G305G|PCDHAC2_uc003lhj.1_Silent_p.G305G	NM_018908	NP_061731	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 5 (PCDHA5), transcript variant 1, mRNA.	321	Cadherin 3.				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)			AAGTTAACGGGGAACTGGATT	0.294000														129			17		0	0	0.000422831	0	0
NR4A1	3164	broad.mit.edu	37	12	52448449	52448449	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr12:52448449C>T	uc001rzs.3	+	2	656	c.337C>T	c.(337-339)Ccc>Tcc	p.P113S	NR4A1_uc010sno.2_Missense_Mutation_p.P126S|NR4A1_uc001rzr.2_Missense_Mutation_p.P113S|NR4A1_uc009zmb.2_Missense_Mutation_p.P113S|NR4A1_uc001rzt.3_Missense_Mutation_p.P113S|NR4A1_uc009zmc.3_5'Flank	NM_002135	NP_775180	P22736	NR4A1_HUMAN	Homo sapiens nuclear receptor subfamily 4, group A, member 1 (NR4A1), transcript variant 1, mRNA.	113					nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor		steroid hormone receptor activity|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)	16				BRCA - Breast invasive adenocarcinoma(357;0.0967)		CGGCTGCTACCCCGGCCCCCT	0.672000														85			6		0	0	3.59834e-05	0	0
SLC25A51P1	442229	broad.mit.edu	37	6	66499039	66499039	+	RNA	SNP	G	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr6:66499039G>A	uc011dxw.2	+	0		c.1268G>A								Homo sapiens mitochondrial carrier triple repeat 3 pseudogene (MCART3P), non-coding RNA.																		AGATTGGTGGGGAATTTCAGT	0.403000														75			6		0	0	0.000157383	0	0
RQCD1	9125	broad.mit.edu	37	2	219449406	219449406	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr2:219449406C>T	uc010zkh.2	+	3	392	c.392C>T	c.(391-393)cCc>cTc	p.P131L	RQCD1_uc002vih.1_Missense_Mutation_p.P131L|RQCD1_uc010zki.2_Missense_Mutation_p.P131L	NM_005444	NP_005435	Q92600	RCD1_HUMAN	Homo sapiens RCD1 required for cell differentiation1 homolog (S. pombe) (RQCD1), mRNA.	131					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|sex differentiation|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|prostate(3)|skin(1)	15		Renal(207;0.0915)		Epithelial(149;1.13e-06)|all cancers(144;0.000192)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AAAACACGTCCCTTTGAGTAT	0.423000														234			19		0	0	0.000175454	0	0
RIOK1	83732	broad.mit.edu	37	6	7393457	7393457	+	Missense_Mutation	SNP	A	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr6:7393457A>T	uc003mxn.3	+	1	371	c.197A>T	c.(196-198)gAt>gTt	p.D66V	RIOK1_uc003mxm.1_5'UTR	NM_031480	NP_694550	Q9BRS2	RIOK1_HUMAN	Homo sapiens RIO kinase 1 (yeast) (RIOK1), transcript variant 1, mRNA.	66							ATP binding|protein serine/threonine kinase activity			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19	Ovarian(93;0.0418)					tatgacgatgatgatgatgaC	0.438000														117			36		0	0	0.000491102	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140166993	140166993	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr5:140166993C>T	uc003lhb.2	+	0	1118	c.1118C>T	c.(1117-1119)aCc>aTc	p.T373I	PCDHAC2_uc003lha.2_Missense_Mutation_p.T373I|PCDHAC2_uc003lgz.3_Missense_Mutation_p.T373I	NM_018900	NP_061723	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 1 (PCDHA1), transcript variant 1, mRNA.	388					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)			GCCCTCATCACCGTGTCTGAC	0.532000														84			16		0	0	0.000422831	0	0
EMR1	2015	broad.mit.edu	37	19	6913757	6913757	+	Missense_Mutation	SNP	C	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr19:6913757C>A	uc002mfw.3	+	10	1254	c.1216C>A	c.(1216-1218)Ctg>Atg	p.L406M	EMR1_uc010dvc.3_Missense_Mutation_p.L406M|EMR1_uc010dvb.3_Missense_Mutation_p.L354M|EMR1_uc010xji.2_Missense_Mutation_p.L265M|EMR1_uc010xjj.2_Missense_Mutation_p.L229M	NM_001974	NP_001965	Q14246	EMR1_HUMAN	Homo sapiens egf-like module containing, mucin-like, hormone receptor-like 1 (EMR1), transcript variant 1, mRNA.	406	Ser/Thr-rich.				cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					CACAGTCTTCCTGGAGAGTGT	0.478000														117			7		0.000274275	0.00385584	0.000274275	1	0
UBXN6	80700	broad.mit.edu	37	19	4446513	4446513	+	Missense_Mutation	SNP	G	A	A	rs145303168	byFrequency	TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr19:4446513G>A	uc002man.2	-	7	1001	c.904C>T	c.(904-906)Cgg>Tgg	p.R302W	UBXN6_uc002mam.2_Missense_Mutation_p.R249W	NM_025241	NP_079517	Q9BZV1	UBXN6_HUMAN	Homo sapiens UBX domain protein 6 (UBXN6), transcript variant 1, mRNA.	302						microtubule organizing center|nucleus	protein binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	12						CTCTGCTCCCGCTTGATCTCC	0.692000														40			5		0	0	0.000602214	0	0
ZKSCAN5	23660	broad.mit.edu	37	7	99128823	99128823	+	Missense_Mutation	SNP	C	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr7:99128823C>A	uc003uqv.3	+	6	1595	c.1471C>A	c.(1471-1473)Caa>Aaa	p.Q491K	ZKSCAN5_uc010lfx.3_Missense_Mutation_p.Q491K|ZKSCAN5_uc003uqw.3_Missense_Mutation_p.Q491K|ZKSCAN5_uc003uqx.3_Missense_Mutation_p.Q418K|ZKSCAN5_uc003uqy.3_Missense_Mutation_p.Q227K	NM_145102	NP_659570	Q9Y2L8	ZKSC5_HUMAN	Homo sapiens zinc finger with KRAB and SCAN domains 5 (ZKSCAN5), transcript variant 2, mRNA.	491					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	21	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					TGGAAAAACCCAAAGAAATGT	0.358000														370			14		0.00074312	0.0093731	0.00074312	1	0
ALG8	79053	broad.mit.edu	37	11	77823718	77823718	+	Missense_Mutation	SNP	C	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr11:77823718C>A	uc001oza.1	-	7	941	c.876G>T	c.(874-876)ttG>ttT	p.L292F	ALG8_uc001oyz.1_Missense_Mutation_p.L292F	NM_024079	NP_076984	Q9BVK2	ALG8_HUMAN	Homo sapiens asparagine-linked glycosylation 8, alpha-1,3-glucosyltransferase homolog (S. cerevisiae) (ALG8), transcript variant 1, mRNA.	292					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	alpha-1,3-mannosyltransferase activity|dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity			NS(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	30	all_cancers(14;3.62e-19)|all_epithelial(13;1.27e-21)|Breast(9;8.51e-17)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;9.66e-25)			GCACTTTGTCCAAAGCATTGT	0.443000														61			6		1.06961e-07	2.04675e-06	0.000157383	1	0
ACVR2A	92	broad.mit.edu	37	2	148654054	148654054	+	Silent	SNP	G	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr2:148654054G>A	uc002twg.3	+	2	509	c.240G>A	c.(238-240)ctG>ctA	p.L80L	ACVR2A_uc010zbn.2_5'UTR|ACVR2A_uc002twh.3_Silent_p.L80L	NM_001616	NP_001607	P27037	AVR2A_HUMAN	Homo sapiens activin A receptor, type IIA (ACVR2A), mRNA.	80					BMP signaling pathway|activin receptor signaling pathway|positive regulation of activin receptor signaling pathway|positive regulation of bone mineralization|positive regulation of erythrocyte differentiation|positive regulation of osteoblast differentiation|positive regulation of protein phosphorylation	cytoplasm|inhibin-betaglycan-ActRII complex|integral to plasma membrane	ATP binding|coreceptor activity|inhibin beta-A binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta receptor activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(5)|large_intestine(14)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(8)	45				BRCA - Breast invasive adenocarcinoma(221;0.0969)		GTTGTTGGCTGGATGATATCA	0.373000														76			7		0	0	0.000274275	0	0
OR4K5	79317	broad.mit.edu	37	14	20389635	20389635	+	Silent	SNP	G	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr14:20389635G>A	uc010tkw.2	+	0	870	c.870G>A	c.(868-870)agG>agA	p.R290R		NM_001005483	NP_001005483	Q8NGD3	OR4K5_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 5 (OR4K5), mRNA.	290					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		ATACACTAAGGAATAGGGATA	0.398000														154			14		0	0	9.7654e-05	0	0
SKIV2L	6499	broad.mit.edu	37	6	31929687	31929687	+	Splice_Site	SNP	G	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr6:31929687G>T	uc003nyn.1	+	10	1308	c.919_splice	c.e10-1	p.W307_splice	RDBP_uc003nyk.3_5'Flank|RDBP_uc011dot.2_5'Flank|RDBP_uc021yvb.1_5'Flank|SKIV2L_uc011dou.1_Splice_Site_p.W149_splice|SKIV2L_uc011dov.1_Splice_Site_p.W114_splice	NM_006929	NP_008860	Q15477	SKIV2_HUMAN	Homo sapiens superkiller viralicidic activity 2-like (S. cerevisiae) (SKIV2L), mRNA.	307						nucleus	ATP binding|ATP-dependent RNA helicase activity|RNA binding|protein binding			breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						CTCCCATAGTGGGCATTTGAG	0.557000														353			18		5.35047e-06	9.43788e-05	0.00047179	1	0
PNO1	56902	broad.mit.edu	37	2	68389420	68389420	+	Missense_Mutation	SNP	G	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr2:68389420G>T	uc002seh.3	+	3	527	c.465G>T	c.(463-465)ttG>ttT	p.L155F		NM_020143	NP_064528	Q9NRX1	PNO1_HUMAN	Homo sapiens partner of NOB1 homolog (S. cerevisiae) (PNO1), mRNA.	155						nucleolus	RNA binding			endometrium(1)|large_intestine(1)|lung(2)	4						TCATCAGGTTGGATGACCTCT	0.433000														109			7		4.68919e-08	9.03476e-07	0.000673444	1	0
PCDH9	5101	broad.mit.edu	37	13	67800011	67800011	+	Silent	SNP	G	T	T	rs145370598	byFrequency	TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr13:67800011G>T	uc001vik.3	-	1	3254	c.2562C>A	c.(2560-2562)gcC>gcA	p.A854A	PCDH9_uc001vil.3_Silent_p.A854A|PCDH9_uc010thl.2_Silent_p.A854A|PCDH9_uc001vin.3_Silent_p.A854A	NM_203487	NP_982354	Q9HC56	PCDH9_HUMAN	Homo sapiens protocadherin 9 (PCDH9), transcript variant 1, mRNA.	854					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.A854A(2)		breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		ACATCCATTCGGCACCTTGCT	0.473000														144			7		0.000673444	0.00850193	0.000673444	1	0
MPV17L	255027	broad.mit.edu	37	16	15501864	15501864	+	Silent	SNP	C	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr16:15501864C>T	uc002ddn.2	+	3	630	c.486C>T	c.(484-486)acC>acT	p.T162T	MPV17L_uc002ddm.2_Missense_Mutation_p.L139F	NM_001128423	NP_001121895	Q2QL34	MP17L_HUMAN	Homo sapiens MPV17 mitochondrial membrane protein-like (MPV17L), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	162						integral to membrane|peroxisomal membrane				kidney(2)|large_intestine(1)|skin(1)	4						TCTGGGCCACCTTCATCTGTT	0.498000														72			9		0	0	0.000673444	0	0
CCT2	10576	broad.mit.edu	37	12	69985849	69985849	+	Missense_Mutation	SNP	G	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr12:69985849G>T	uc001svb.1	+	7	754	c.660G>T	c.(658-660)ttG>ttT	p.L220F	CCT2_uc010stl.1_Missense_Mutation_p.L173F	NM_006431	NP_001185771	P78371	TCPB_HUMAN	Homo sapiens chaperonin containing TCP1, subunit 2 (beta) (CCT2), transcript variant 1, mRNA.	220					'de novo' posttranslational protein folding	nucleus	ATP binding|unfolded protein binding	p.L219L(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(1)	24	all_cancers(2;7.7e-106)|Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		Epithelial(6;2.72e-18)|GBM - Glioblastoma multiforme(2;2.58e-10)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			GCTTCCTGTTGGATAAAAAAA	0.284000														225			9		7.93312e-07	1.45819e-05	0.000219431	1	0
FLJ43315	644316	broad.mit.edu	37	GL000211.1	91868	91868	+	RNA	SNP	G	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chrGL000211.1:91868G>A	uc003bnz.1	+	6		c.1224G>A			FLJ43315_uc003boa.3_Non-coding_Transcript					Homo sapiens asparagine synthetase pseudogene (FLJ43315), non-coding RNA.																		AGATACATAAGGAGTCAGACC	0.348000														36			4		0	0	3.59834e-05	0	0
DIO1	1733	broad.mit.edu	37	1	54370352	54370352	+	Silent	SNP	G	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:54370352G>A	uc021onq.1	+	1	374	c.351G>A	c.(349-351)ctG>ctA	p.L117L	DIO1_uc021onp.1_Silent_p.L53L|DIO1_uc009vzl.3_Intron|DIO1_uc001cwb.3_Intron|DIO1_uc021onr.1_Silent_p.L117L|DIO1_uc001cwd.3_Non-coding_Transcript|DIO1_uc001cwe.3_Intron|DIO1_uc001cwf.3_Non-coding_Transcript|DIO1_uc001cwg.3_Non-coding_Transcript	NM_000792	NP_001034804	P49895	IOD1_HUMAN	Homo sapiens deiodinase, iodothyronine, type I (DIO1), transcript variant 1, mRNA.	117					hormone biosynthetic process|thyroid hormone generation	endoplasmic reticulum membrane|integral to membrane|plasma membrane	selenium binding|thyroxine 5'-deiodinase activity			cervix(1)|endometrium(2)|large_intestine(3)|lung(2)|skin(1)	9						ATAGGCCACTGGTGCTGAATT	0.388000														193			15		0	0	0.00074312	0	0
SSB	6741	broad.mit.edu	37	2	170664991	170664991	+	Splice_Site	SNP	G	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr2:170664991G>T	uc002ufk.3	+	7	729	c.555_splice	c.e7-1	p.K185_splice	SSB_uc002ufm.3_Splice_Site_p.K185_splice	NM_003142	NP_003133	P05455	LA_HUMAN	Homo sapiens Sjogren syndrome antigen B (autoantigen La) (SSB), mRNA.	185	RRM.				histone mRNA metabolic process|tRNA modification	nucleus|ribonucleoprotein complex	mRNA binding|nucleotide binding|protein binding|tRNA binding			endometrium(3)|large_intestine(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						GTGTTCTTTAGGGACGATTAC	0.338000														174			9		3.07112e-06	5.48644e-05	6.40141e-05	1	0
DNAH5	1767	broad.mit.edu	37	5	13700897	13700897	+	Silent	SNP	A	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr5:13700897A>T	uc003jfd.2	-	77	13617	c.13575T>A	c.(13573-13575)atT>atA	p.I4525I	DNAH5_uc003jfc.2_Silent_p.I693I	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	4525					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GAGGGGCAGAAATGTCGTCCT	0.468000									Kartagener syndrome					119			14		0	0	0.000151284	0	0
SLC9C2	284525	broad.mit.edu	37	1	173552678	173552678	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:173552678G>A	uc001giz.2	-	5	1030	c.607C>T	c.(607-609)Cgg>Tgg	p.R203W	SLC9C2_uc010pmq.1_Non-coding_Transcript	NM_178527	NP_848622	Q5TAH2	S9A11_HUMAN	Homo sapiens solute carrier family 9, member 11 (SLC9A11), mRNA.	203					sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity										CTGTTGCCCCGAAAATTTCCA	0.284000														146			17		0	0	0.000175454	0	0
ZNF654	55279	broad.mit.edu	37	3	88189138	88189138	+	Silent	SNP	C	G	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr3:88189138C>G	uc003dqv.3	+	0	877	c.678C>G	c.(676-678)acC>acG	p.T226T	CGGBP1_uc003dqu.3_Intron	NM_018293	NP_060763	Q8IZM8	ZN654_HUMAN	Homo sapiens zinc finger protein 654 (ZNF654), mRNA.	226					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(3)	12		Lung NSC(201;0.0283)		UCEC - Uterine corpus endometrioid carcinoma (27;0.194)|LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00661)		TACATCCAACCGATTTAAATG	0.358000														54			4		0	0	3.59834e-05	0	0
PCDH1	5097	broad.mit.edu	37	5	141243238	141243238	+	Silent	SNP	G	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr5:141243238G>A	uc003llp.3	-	2	2775	c.2658C>T	c.(2656-2658)taC>taT	p.Y886Y	PCDH1_uc011dbf.2_Silent_p.Y864Y|PCDH1_uc003llq.3_Silent_p.Y886Y	NM_032420	NP_115796	Q08174	PCDH1_HUMAN	Homo sapiens protocadherin 1 (PCDH1), transcript variant 2, mRNA.	886					cell-cell signaling|homophilic cell adhesion|nervous system development	cell-cell junction|integral to plasma membrane	calcium ion binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1)	51		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)		TACCAGCCTGGTAACCACTTT	0.577000														158			7		0	0	8.12818e-05	0	0
MCM5	4174	broad.mit.edu	37	22	35804513	35804513	+	Missense_Mutation	SNP	C	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr22:35804513C>A	uc003anu.4	+	5	803	c.709C>A	c.(709-711)Ccc>Acc	p.P237T	MCM5_uc003anv.4_Missense_Mutation_p.P194T|MCM5_uc010gws.2_Non-coding_Transcript|MCM5_uc003anw.1_5'Flank	NM_006739	NP_006730	P33992	MCM5_HUMAN	Homo sapiens minichromosome maintenance complex component 5 (MCM5), mRNA.	237					DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint	MCM complex	ATP binding|DNA binding|helicase activity|protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29						TGATGCAGTCCCCCACGGGGA	0.612000														39			5		8.12818e-05	0.00127893	8.12818e-05	1	0
SP4	6671	broad.mit.edu	37	7	21469023	21469023	+	Missense_Mutation	SNP	G	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr7:21469023G>T	uc003sva.3	+	2	421	c.240G>T	c.(238-240)ttG>ttT	p.L80F	SP4_uc003svb.3_5'UTR	NM_003112	NP_003103	Q02446	SP4_HUMAN	Homo sapiens Sp4 transcription factor (SP4), mRNA.	80					regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	35						GTCAAGGATTGGTGCAACTTC	0.443000														111			6		0.000442599	0.00580232	0.000442599	1	0
DIAPH1	1729	broad.mit.edu	37	5	140951530	140951530	+	Silent	SNP	G	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr5:140951530G>A	uc003llb.4	-	16	2577	c.2436C>T	c.(2434-2436)ttC>ttT	p.F812F	DIAPH1_uc003llc.4_Silent_p.F803F|DIAPH1_uc021yep.1_Silent_p.F812F|DIAPH1_uc021yeq.1_Silent_p.F803F|DIAPH1_uc010jgc.1_Silent_p.F251F	NM_005219	NP_005210	O60610	DIAP1_HUMAN	Homo sapiens diaphanous homolog 1 (Drosophila) (DIAPH1), transcript variant 1, mRNA.	812	FH2.				regulation of microtubule-based process|sensory perception of sound	cytoplasm|cytoskeleton|ruffle membrane	Rho GTPase binding|actin binding|receptor binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2)	23			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TAAGTTTGGCGAAAAGTTCAT	0.473000														135			31		0	0	0.000953801	0	0
SLC5A7	60482	broad.mit.edu	37	2	108625107	108625107	+	Missense_Mutation	SNP	G	C	C	rs147656110		TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr2:108625107G>C	uc002tdv.3	+	7	1358	c.1082G>C	c.(1081-1083)cGg>cCg	p.R361P	SLC5A7_uc010ywm.2_Missense_Mutation_p.R114P|SLC5A7_uc010fjj.3_Missense_Mutation_p.R361P|SLC5A7_uc010ywn.2_Missense_Mutation_p.R248P	NM_021815	NP_068587	Q9GZV3	SC5A7_HUMAN	Homo sapiens solute carrier family 5 (choline transporter), member 7 (SLC5A7), mRNA.	361					acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	ATGTTTGCACGGAACATCTAC	0.403000														50			3		0	0	3.59834e-05	0	0
DDI2	84301	broad.mit.edu	37	1	15960047	15960047	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:15960047G>A	uc001awx.2	+	3	832	c.619G>A	c.(619-621)Gaa>Aaa	p.E207K	DDI2_uc001aww.3_Missense_Mutation_p.E207K|RSC1A1_uc009voj.2_5'UTR	NM_032341	NP_115717	Q5TDH0	DDI2_HUMAN	Homo sapiens DNA-damage inducible 1 homolog 2 (S. cerevisiae) (DDI2), mRNA.	207					proteolysis		aspartic-type endopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|stomach(1)	17		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00327)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.03e-07)|COAD - Colon adenocarcinoma(227;4.48e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)		GGCAAAGATAGAAGAAGATAT	0.468000														227			35		0	0	0.000589545	0	0
GNG4	2786	broad.mit.edu	37	1	235747058	235747058	+	Silent	SNP	G	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:235747058G>A	uc001hxe.4	-	2	535	c.81C>T	c.(79-81)gcC>gcT	p.A27A	GNG4_uc009xfz.3_Silent_p.A27A|GNG4_uc001hxh.4_Silent_p.A27A	NM_001098722	NP_004476	P50150	GBG4_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), gamma 4 (GNG4), transcript variant 1, mRNA.	27					G-protein coupled receptor protein signaling pathway|cellular response to glucagon stimulus|energy reserve metabolic process|negative regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	heterotrimeric G-protein complex	signal transducer activity			NS(1)|endometrium(2)|large_intestine(1)|lung(3)|prostate(1)	8	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00168)|Prostate(94;0.0776)|Acute lymphoblastic leukemia(190;0.23)	OV - Ovarian serous cystadenocarcinoma(106;0.000882)			TGTCCATACAGGCTTCCATCT	0.517000														113			12		0	0	0.00010058	0	0
PDZD2	23037	broad.mit.edu	37	5	32061112	32061112	+	Missense_Mutation	SNP	G	C	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr5:32061112G>C	uc003jhl.3	+	13	2711	c.2323G>C	c.(2323-2325)Ggg>Cgg	p.G775R	PDZD2_uc003jhm.3_Missense_Mutation_p.G775R|PDZD2_uc011cnx.1_Missense_Mutation_p.G601R	NM_178140	NP_835260	O15018	PDZD2_HUMAN	Homo sapiens PDZ domain containing 2 (PDZD2), mRNA.	775	PDZ 4.				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus		p.G775W(2)|p.R774H(1)		NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						CCCTAGCCGCGGGGATCAAAT	0.493000														72			4		0	0	0.000602214	0	0
RNF25	64320	broad.mit.edu	37	2	219529185	219529185	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr2:219529185G>A	uc002vit.3	-	9	963	c.875C>T	c.(874-876)gCa>gTa	p.A292V	RNF25_uc010fvw.3_Missense_Mutation_p.A180V	NM_022453	NP_071898	Q96BH1	RNF25_HUMAN	Homo sapiens ring finger protein 25 (RNF25), mRNA.	292					positive regulation of NF-kappaB transcription factor activity	cytosol|nucleus	NF-kappaB binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24		Renal(207;0.0474)		Epithelial(149;6.99e-07)|all cancers(144;0.000129)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGATAGTTCTGCTGCAAGGGT	0.542000														102			6		0	0	0.000157383	0	0
SI	6476	broad.mit.edu	37	3	164776979	164776979	+	Missense_Mutation	SNP	C	G	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr3:164776979C>G	uc003fei.3	-	10	1318	c.1255G>C	c.(1255-1257)Gga>Cga	p.G419R		NM_001041	NP_001032	P14410	SUIS_HUMAN	Homo sapiens sucrase-isomaltase (alpha-glucosidase) (SI), mRNA.	419	Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	Golgi apparatus|apical plasma membrane|brush border|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	TATTTCTGTCCATGGTCATGC	0.338000										HNSCC(35;0.089)				36			3		0	0	3.59834e-05	0	0
LIN7A	8825	broad.mit.edu	37	12	81205358	81205358	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr12:81205358C>T	uc001szj.1	-	4	781	c.588G>A	c.(586-588)atG>atA	p.M196I	LIN7A_uc001szk.1_Non-coding_Transcript	NM_004664	NP_004655	O14910	LIN7A_HUMAN	Homo sapiens lin-7 homolog A (C. elegans) (LIN7A), mRNA.	196					exocytosis|protein complex assembly|protein transport	basolateral plasma membrane|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	L27 domain binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|skin(2)	15						AGCGAGCCTCCATTTCTTCCA	0.502000														45			8		0	0	0.000157383	0	0
RYR2	6262	broad.mit.edu	37	1	237955612	237955612	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:237955612T>C	uc001hyl.1	+	93	13891	c.13771T>C	c.(13771-13773)Tac>Cac	p.Y4591H	RYR2_uc010pyb.1_Missense_Mutation_p.Y24H	NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	4591					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)			CATTGGATACTACTGCTTGAA	0.478000														53			3		0	0	0.000602214	0	0
WDR81	124997	broad.mit.edu	37	17	1637235	1637235	+	Missense_Mutation	SNP	A	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr17:1637235A>T	uc002ftj.2	+	6	5033	c.4904A>T	c.(4903-4905)cAc>cTc	p.H1635L	WDR81_uc002fth.2_Missense_Mutation_p.H584L|WDR81_uc010vqp.1_Missense_Mutation_p.H432L|WDR81_uc002fti.2_Missense_Mutation_p.H408L|WDR81_uc010vqq.1_Missense_Mutation_p.H266L	NM_001163809	NP_001157281	B3KXU1	B3KXU1_HUMAN	Homo sapiens WD repeat domain 81 (WDR81), transcript variant 1, mRNA.	408										cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		GCCCACTTTCACTTCCACCAG	0.652000														87			6		0	0	3.59834e-05	0	0
CHD7	55636	broad.mit.edu	37	8	61773534	61773534	+	Silent	SNP	C	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr8:61773534C>A	uc003xue.3	+	34	8172	c.7680C>A	c.(7678-7680)ccC>ccA	p.P2560P	CHD7_uc022aux.1_Intron	NM_017780	NP_060250	Q9P2D1	CHD7_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 7 (CHD7), mRNA.	2560					T cell differentiation|central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|transcription, DNA-dependent	nucleus	ATP binding|DNA binding|chromatin binding|helicase activity	p.P2560P(3)		NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			TTCCTTCTCCCGGACAGCTGG	0.453000														123			7		0.000442599	0.00580232	0.000442599	1	0
TARBP1	6894	broad.mit.edu	37	1	234546208	234546208	+	Missense_Mutation	SNP	G	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:234546208G>T	uc001hwd.3	-	22	3775	c.3775C>A	c.(3775-3777)Caa>Aaa	p.Q1259K		NM_005646	NP_005637	Q13395	TARB1_HUMAN	Homo sapiens TAR (HIV-1) RNA binding protein 1 (TARBP1), mRNA.	1259					RNA processing|regulation of transcription from RNA polymerase II promoter	nucleus	RNA binding|RNA methyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)			GGAATATTTTGAGTAATAATG	0.244000														308			12		1.49906e-05	0.000257286	0.000219431	1	0
EGFLAM	133584	broad.mit.edu	37	5	38425167	38425167	+	Missense_Mutation	SNP	G	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr5:38425167G>T	uc003jlc.2	+	12	2129	c.1783G>T	c.(1783-1785)Ggg>Tgg	p.G595W	EGFLAM_uc003jlb.2_Missense_Mutation_p.G595W|EGFLAM_uc003jle.2_Missense_Mutation_p.G361W|EGFLAM_uc003jlf.2_5'UTR	NM_001205301	NP_001192230	Q63HQ2	EGFLA_HUMAN	Homo sapiens EGF-like, fibronectin type III and laminin G domains (EGFLAM), transcript variant 5, mRNA.	595	EGF-like 2.					cell junction|proteinaceous extracellular matrix|synapse				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					CTGTCCCCTTGGGTTTAAAGG	0.463000														172			11		2.27111e-07	4.29882e-06	0.00010058	1	0
CELF1	10658	broad.mit.edu	37	11	47504246	47504246	+	Splice_Site	SNP	C	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr11:47504246C>A	uc001nfp.3	-	9	1170	c.768_splice	c.e9+1	p.A256_splice	CELF1_uc001nfl.3_Splice_Site_p.A229_splice|CELF1_uc010rhm.2_Splice_Site_p.A228_splice|CELF1_uc001nfm.3_Splice_Site_p.A229_splice|CELF1_uc001nfk.2_Splice_Site_p.A255_splice|CELF1_uc001nfn.3_Splice_Site_p.A229_splice|CELF1_uc001nfr.1_Splice_Site_p.A229_splice	NM_001025596	NP_001020767	Q92879	CELF1_HUMAN	Homo sapiens CUGBP, Elav-like family member 1 (CELF1), transcript variant 3, mRNA.	229					RNA interference|embryo development|mRNA splice site selection|regulation of RNA splicing	cytoplasm|nucleus|ribonucleoprotein complex	BRE binding|mRNA binding|nucleotide binding|translation repressor activity, nucleic acid binding			central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(2)	18						CAAAGACTCACTGCTAAATAC	0.498000														97			5		0.000274275	0.00385584	0.000274275	1	0
PA2G4	5036	broad.mit.edu	37	12	56503697	56503697	+	Missense_Mutation	SNP	C	G	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr12:56503697C>G	uc001sjm.3	+	6	1026	c.607C>G	c.(607-609)Cag>Gag	p.Q203E		NM_006191	NP_006182	Q9UQ80	PA2G4_HUMAN	Homo sapiens proliferation-associated 2G4, 38kDa (PA2G4), mRNA.	203					cell cycle arrest|cell proliferation|negative regulation of transcription, DNA-dependent|rRNA processing|regulation of translation	cytoplasm|nucleolus|ribonucleoprotein complex	DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|ubiquitin protein ligase binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(18;0.0739)			AACCATTATCCAGAATCCCAC	0.433000														80			5		0	0	8.12818e-05	0	0
SLC15A1	6564	broad.mit.edu	37	13	99373814	99373814	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr13:99373814G>A	uc001vno.3	-	6	568	c.491C>T	c.(490-492)tCc>tTc	p.S164F	SLC15A1_uc001vnp.1_Missense_Mutation_p.S132F	NM_005073	NP_005064	P46059	S15A1_HUMAN	Homo sapiens solute carrier family 15 (oligopeptide transporter), member 1 (SLC15A1), mRNA.	164					digestion|protein transport	integral to plasma membrane|membrane fraction	peptide:hydrogen symporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Cefadroxil(DB01140)|Ceftibuten(DB01415)|Cyclacillin(DB01000)	GTAAAAGATGGAAAAAAATCT	0.393000														39			11		0	0	6.40141e-05	0	0
KCTD19	146212	broad.mit.edu	37	16	67354729	67354729	+	Silent	SNP	G	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr16:67354729G>T	uc002esu.2	-	1	114	c.63C>A	c.(61-63)ggC>ggA	p.G21G	KCTD19_uc002est.2_5'UTR|KCTD19_uc010vjj.1_5'UTR	NM_001100915	NP_001094385	Q17RG1	KCD19_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 19 (KCTD19), mRNA.	21	BTB 1.					voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)		AGAAATGCCAGCCCCCTACGT	0.478000														119			7		0.000442599	0.00580232	0.000442599	1	0
SLC14A1	6563	broad.mit.edu	37	18	43319224	43319224	+	Missense_Mutation	SNP	C	G	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr18:43319224C>G	uc010dnk.3	+	7	1150	c.928C>G	c.(928-930)Cca>Gca	p.P310A	SLC14A1_uc002lbi.4_Missense_Mutation_p.P122A|SLC14A1_uc010xcn.2_Missense_Mutation_p.P254A|SLC14A1_uc002lbf.4_Missense_Mutation_p.P254A|SLC14A1_uc002lbg.4_Non-coding_Transcript|SLC14A1_uc010xco.2_Missense_Mutation_p.P149A|SLC14A1_uc002lbh.4_Missense_Mutation_p.P146A|SLC14A1_uc002lbj.4_Missense_Mutation_p.P310A|SLC14A1_uc002lbk.4_Missense_Mutation_p.P254A|SLC14A1_uc021ujg.1_Intron	NM_001128588	NP_056949	Q13336	UT1_HUMAN	Homo sapiens solute carrier family 14 (urea transporter), member 1 (Kidd blood group) (SLC14A1), transcript variant 1, mRNA.	254						integral to plasma membrane	urea transmembrane transporter activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	21						ACTCTCCTCCCCACTCATGTG	0.522000														88			5		0	0	3.59834e-05	0	0
RPS6KA4	8986	broad.mit.edu	37	11	64128706	64128706	+	Missense_Mutation	SNP	C	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr11:64128706C>A	uc001oae.3	+	4	646	c.563C>A	c.(562-564)aCg>aAg	p.T188K	RPS6KA4_uc001oad.3_Missense_Mutation_p.T188K|RPS6KA4_uc010rnl.2_Missense_Mutation_p.T125K|RPS6KA4_uc001oaf.3_Missense_Mutation_p.T188K|RPS6KA4_uc009ypp.3_Missense_Mutation_p.T188K	NM_003942	NP_003933	O75676	KS6A4_HUMAN	Homo sapiens ribosomal protein S6 kinase, 90kDa, polypeptide 4 (RPS6KA4), transcript variant 1, mRNA.	188	Protein kinase 1.				axon guidance|histone phosphorylation|interleukin-1-mediated signaling pathway|intracellular protein kinase cascade|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|magnesium ion binding|mitogen-activated protein kinase p38 binding|ribosomal protein S6 kinase activity			breast(1)|endometrium(3)|lung(7)|ovary(1)|prostate(1)	13						GAGTTCCTGACGGAGGAGGTG	0.587000														53			4		0.000442599	0.00580232	0.000442599	1	0
UBA1	7317	broad.mit.edu	37	X	47073812	47073812	+	Silent	SNP	C	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chrX:47073812C>T	uc004dhj.4	+	23	3076	c.2925C>T	c.(2923-2925)ttC>ttT	p.F975F	UBA1_uc004dhk.4_Silent_p.F975F|UBA1_uc004dhm.3_Silent_p.F423F	NM_153280	NP_695012	P22314	UBA1_HUMAN	Homo sapiens ubiquitin-like modifier activating enzyme 1 (UBA1), transcript variant 2, mRNA.	975					cell death|protein modification process		ATP binding|ligase activity|protein binding|small protein activating enzyme activity			breast(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						TCAAACAGTTCCTCGACTATT	0.532000														83			12		0	0	6.40141e-05	0	0
LPAL2	80350	broad.mit.edu	37	6	160921913	160921913	+	RNA	SNP	G	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr6:160921913G>A	uc003qtj.2	-	1		c.226C>T			LPAL2_uc011efy.2_Non-coding_Transcript					Homo sapiens lipoprotein, Lp(a)-like 2, pseudogene (LPAL2), transcript variant 2, non-coding RNA.											large_intestine(1)|lung(4)	5		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.214)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)		TATGTGCCTCGATAACTCTGT	0.463000														145			39		0	0	0.000191422	0	0
GSTM3	2947	broad.mit.edu	37	1	110280350	110280350	+	Missense_Mutation	SNP	C	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:110280350C>A	uc001dyo.2	-	6	706	c.396G>T	c.(394-396)ttG>ttT	p.L132F	GSTM3_uc001dyp.2_Missense_Mutation_p.L129F|GSTM3_uc010ovv.2_Missense_Mutation_p.L132F	NM_000849	NP_000840	P21266	GSTM3_HUMAN	Homo sapiens glutathione S-transferase mu 3 (brain) (GSTM3), transcript variant 1, mRNA.	132	GST C-terminal.				establishment of blood-nerve barrier|glutathione metabolic process|response to estrogen stimulus	cytoplasm	glutathione transferase activity|identical protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|skin(1)	9		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)		Colorectal(144;0.0339)|Lung(183;0.0426)|all cancers(265;0.113)|Epithelial(280;0.125)|COAD - Colon adenocarcinoma(174;0.134)|LUSC - Lung squamous cell carcinoma(189;0.228)	Glutathione(DB00143)	GTAGCTCTTCCAAGTACTGAG	0.438000														162			9		0.000274275	0.00385584	0.000274275	1	0
ANTXR1	84168	broad.mit.edu	37	2	69409628	69409628	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr2:69409628C>T	uc002sfg.3	+	15	1545	c.1189C>T	c.(1189-1191)Cgt>Tgt	p.R397C		NM_032208	NP_115584	Q9H6X2	ANTR1_HUMAN	Homo sapiens anthrax toxin receptor 1 (ANTXR1), transcript variant 1, mRNA.	397					actin cytoskeleton reorganization|substrate adhesion-dependent cell spreading	filopodium membrane|integral to membrane|lamellipodium membrane	actin filament binding|collagen binding|metal ion binding|protein binding|transmembrane receptor activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						ATTTTAGGTTCGTTGGGGAGA	0.413000									Familial Infantile Hemangioma					68			13		0	0	0.000219431	0	0
LRRC39	127495	broad.mit.edu	37	1	100620637	100620637	+	Missense_Mutation	SNP	G	T	T	rs147649568		TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:100620637G>T	uc001dsw.1	-	7	981	c.782C>A	c.(781-783)cCa>cAa	p.P261Q	LRRC39_uc001dsx.1_Missense_Mutation_p.P261Q|LRRC39_uc001dsy.1_Missense_Mutation_p.P261Q|LRRC39_uc001dsz.1_Missense_Mutation_p.P261Q	NM_144620	NP_653221	Q96DD0	LRC39_HUMAN	Homo sapiens leucine rich repeat containing 39 (LRRC39), transcript variant 3, mRNA.	261										endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(1)	13		all_epithelial(167;0.000542)|all_lung(203;0.0154)|Lung NSC(277;0.0155)		Epithelial(280;0.0826)|all cancers(265;0.135)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.195)		CATGCATACTGGAATATCTTG	0.373000														155			9		5.50884e-06	9.65634e-05	0.00010058	1	0
ANKRD20A2	441430	broad.mit.edu	37	2	95522815	95522815	+	RNA	SNP	A	G	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr2:95522815A>G	uc010fhp.3	-	0		c.6T>C						Q5SQ80	A20A2_HUMAN	Homo sapiens ankyrin repeat domain 20 family, member A8, pseudogene (ANKRD20A8P), non-coding RNA.											large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	4						ATCTTCTGCAATTCGGAGTCC	0.652000														77			4		0	0	0.000602214	0	0
RNF128	79589	broad.mit.edu	37	X	106033472	106033472	+	Missense_Mutation	SNP	C	G	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chrX:106033472C>G	uc004eml.3	+	4	1194	c.944C>G	c.(943-945)cCc>cGc	p.P315R	RNF128_uc004emk.3_Missense_Mutation_p.P289R	NM_194463	NP_919445	Q8TEB7	RN128_HUMAN	Homo sapiens ring finger protein 128 (RNF128), transcript variant 1, mRNA.	315						endomembrane system|integral to membrane|perinuclear region of cytoplasm	zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)	11						AGGACTTGCCCCATGTGCAAA	0.348000														115			5		0	0	0.000157383	0	0
RBL1	5933	broad.mit.edu	37	20	35689582	35689582	+	Missense_Mutation	SNP	G	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr20:35689582G>T	uc002xgi.3	-	8	1253	c.1174C>A	c.(1174-1176)Caa>Aaa	p.Q392K	RBL1_uc002xgj.1_Missense_Mutation_p.Q392K|RBL1_uc010gfv.1_Non-coding_Transcript	NM_002895	NP_002886	P28749	RBL1_HUMAN	Homo sapiens retinoblastoma-like 1 (p107) (RBL1), transcript variant 1, mRNA.	392	Domain A.|Pocket; binds T and E1A.				cell cycle|chromatin modification|interspecies interaction between organisms|regulation of cell cycle|regulation of lipid kinase activity|transcription, DNA-dependent		transcription factor binding			NS(1)|breast(1)|endometrium(7)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	42		Myeloproliferative disorder(115;0.00878)				CTCACACTTTGGGTGGCTGAT	0.408000														75			8		5.4927e-09	1.06711e-07	0.000274275	1	0
CCT5	22948	broad.mit.edu	37	5	10260916	10260916	+	Missense_Mutation	SNP	G	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr5:10260916G>T	uc003jeq.3	+	6	1057	c.886G>T	c.(886-888)Ggt>Tgt	p.G296C	CCT5_uc011cmq.2_Missense_Mutation_p.G143C|CCT5_uc011cmr.2_Missense_Mutation_p.G241C|CCT5_uc011cms.2_Missense_Mutation_p.G258C|CCT5_uc011cmt.2_Missense_Mutation_p.G203C	NM_012073	NP_036205	P48643	TCPE_HUMAN	Homo sapiens chaperonin containing TCP1, subunit 5 (epsilon) (CCT5), mRNA.	296					'de novo' posttranslational protein folding|response to virus	microtubule organizing center|nucleolus	ATP binding|unfolded protein binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(2)	26						TAAAGAGACTGGTGCTAACCT	0.423000														227			11		9.31168e-06	0.000162005	0.000151284	1	0
XRCC6BP1	91419	broad.mit.edu	37	12	58350480	58350480	+	Missense_Mutation	SNP	G	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr12:58350480G>T	uc001sqp.3	+	5	588	c.548G>T	c.(547-549)cGa>cTa	p.R183L		NM_033276	NP_150592	Q9Y6H3	ATP23_HUMAN	Homo sapiens XRCC6 binding protein 1 (XRCC6BP1), mRNA.	183					double-strand break repair via nonhomologous end joining	DNA-dependent protein kinase-DNA ligase 4 complex	DNA-dependent protein kinase activity|metal ion binding|metalloendopeptidase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)	11						ACTTGTGTGCGAGACAGAGCC	0.313000														151			8		0.000274275	0.00385584	0.000274275	1	0
SSTR1	6751	broad.mit.edu	37	14	38679025	38679025	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr14:38679025G>A	uc021rsi.1	+	0	431	c.431G>A	c.(430-432)aGc>aAc	p.S144N	SSTR1_uc001wul.1_Missense_Mutation_p.S144N	NM_001049	NP_001040	P30872	SSR1_HUMAN	Homo sapiens somatostatin receptor 1 (SSTR1), mRNA.	144					G-protein signaling, coupled to cyclic nucleotide second messenger|digestion|negative regulation of cell proliferation|response to nutrient	integral to plasma membrane	somatostatin receptor activity			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00444)	Octreotide(DB00104)	ATGTTCACCAGCATCTACTGT	0.647000														114			30		0	0	0.000184323	0	0
TEK	7010	broad.mit.edu	37	9	27172633	27172633	+	Missense_Mutation	SNP	G	C	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr9:27172633G>C	uc011lno.2	+	4	1090	c.648G>C	c.(646-648)tgG>tgC	p.W216C	TEK_uc010mjc.1_Missense_Mutation_p.W69C|TEK_uc011lnn.1_Missense_Mutation_p.W216C|TEK_uc003zqi.4_Missense_Mutation_p.W216C|TEK_uc011lnp.2_Missense_Mutation_p.W112C|TEK_uc003zqj.1_Missense_Mutation_p.W193C	NM_000459	NP_000450	Q02763	TIE2_HUMAN	Homo sapiens TEK tyrosine kinase, endothelial (TEK), mRNA.	216	EGF-like 1.				angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	p.W216*(1)		breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)		CCCAGAAGTGGGGACCTGAAT	0.468000														39			3		0	0	0.000602214	0	0
COL28A1	340267	broad.mit.edu	37	7	7410409	7410409	+	Missense_Mutation	SNP	C	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr7:7410409C>A	uc003src.1	-	32	3130	c.3013G>T	c.(3013-3015)Ggg>Tgg	p.G1005W	COL28A1_uc011jxe.1_Missense_Mutation_p.G688W	NM_001037763	NP_001032852	Q2UY09	COSA1_HUMAN	Homo sapiens collagen, type XXVIII, alpha 1 (COL28A1), mRNA.	1005					cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		AGTTCTTCCCCTGACATCCCA	0.373000														113			7		0.000274275	0.00385584	0.000274275	1	0
UBAP1	51271	broad.mit.edu	37	9	34242074	34242074	+	Nonsense_Mutation	SNP	G	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr9:34242074G>T	uc022bfy.1	+	4	1449	c.1051G>T	c.(1051-1053)Gag>Tag	p.E351*	UBAP1_uc010mka.2_Nonsense_Mutation_p.E387*|UBAP1_uc003zty.3_Nonsense_Mutation_p.E351*|UBAP1_uc022bfz.1_Nonsense_Mutation_p.E351*|UBAP1_uc003ztx.3_Nonsense_Mutation_p.E351*|UBAP1_uc011loj.2_Nonsense_Mutation_p.E415*|UBAP1_uc011loi.2_Nonsense_Mutation_p.E387*|KIF24_uc010mkb.3_Intron|UBAP1_uc003ztz.3_Nonsense_Mutation_p.E351*	NM_001171203	NP_057609	Q9NZ09	UBAP1_HUMAN	Homo sapiens ubiquitin associated protein 1 (UBAP1), transcript variant 2, mRNA.	351						cytoplasm				endometrium(4)|kidney(2)|lung(6)|upper_aerodigestive_tract(1)	13			LUSC - Lung squamous cell carcinoma(29;0.00272)			TGTGTGCACAGAGGAATCATC	0.483000														114			7		0.000274275	0.00385584	0.000274275	1	0
CD300C	10871	broad.mit.edu	37	17	72541037	72541037	+	Silent	SNP	T	C	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr17:72541037T>C	uc002jky.1	-	1	472	c.111A>G	c.(109-111)ggA>ggG	p.G37G		NM_006678	NP_006669	Q08708	CLM6_HUMAN	Homo sapiens CD300c molecule (CD300C), mRNA.	37	Ig-like V-type.				cellular defense response	integral to plasma membrane	transmembrane receptor activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|skin(2)|upper_aerodigestive_tract(1)	21						CACTCAGGGATCCCCCCACGG	0.542000														41			12		0	0	0.000692331	0	0
RTN3	10313	broad.mit.edu	37	11	63486865	63486865	+	Silent	SNP	G	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr11:63486865G>T	uc001nxq.3	+	2	1078	c.891G>T	c.(889-891)ctG>ctT	p.L297L	RTN3_uc001nxp.3_Intron|RTN3_uc009yov.3_Silent_p.L185L|RTN3_uc010rmt.2_Intron|RTN3_uc010rmu.2_Intron|RTN3_uc001nxm.3_Intron|RTN3_uc001nxn.3_Silent_p.L278L|RTN3_uc001nxo.3_Intron	NM_201428	NP_958831	O95197	RTN3_HUMAN	Homo sapiens reticulon 3 (RTN3), transcript variant 2, mRNA.	297					apoptosis|endoplasmic reticulum tubular network organization|interspecies interaction between organisms|response to stress|vesicle-mediated transport	Golgi membrane|endoplasmic reticulum membrane|extracellular space|integral to membrane				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	20						TTTTTCCACTGAGAAATAAAG	0.438000														106			7		0.000442599	0.00580232	0.000442599	1	0
C1QL2	165257	broad.mit.edu	37	2	119915809	119915809	+	Missense_Mutation	SNP	G	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr2:119915809G>T	uc002tlo.2	-	0	663	c.37C>A	c.(37-39)Ctg>Atg	p.L13M		NM_182528	NP_872334	Q7Z5L3	C1QL2_HUMAN	Homo sapiens complement component 1, q subcomponent-like 2 (C1QL2), mRNA.	13						collagen				NS(1)|endometrium(1)|large_intestine(3)|pancreas(1)|prostate(1)	7						GCCGCCTGCAGCAGCAGCGGC	0.756000										HNSCC(49;0.14)				12			4		6.5536e-12	1.2948e-10	0.000157383	1	0
RAB3B	5865	broad.mit.edu	37	1	52442645	52442645	+	Missense_Mutation	SNP	G	C	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:52442645G>C	uc001cth.3	-	1	358	c.145C>G	c.(145-147)Cca>Gca	p.P49A		NM_002867	NP_002858	P20337	RAB3B_HUMAN	Homo sapiens RAB3B, member RAS oncogene family (RAB3B), mRNA.	49					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity			large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	9						ACGAAGGCTGGGGTGAACGTG	0.507000														67			4		0	0	3.59834e-05	0	0
TTN	7273	broad.mit.edu	37	2	179596841	179596841	+	Missense_Mutation	SNP	G	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr2:179596841G>T	uc021vsy.1	-	53	13348	c.13123C>A	c.(13123-13125)Caa>Aaa	p.Q4375K	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.Q1036K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	5302	Ig-like 23.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.Q4375K(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCCTCATTTTGGGCCTCACAC	0.463000														133			8		0.000274275	0.00385584	0.000274275	1	0
LIPK	643414	broad.mit.edu	37	10	90492261	90492261	+	Missense_Mutation	SNP	C	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr10:90492261C>A	uc010qmv.2	+	4	622	c.622C>A	c.(622-624)Caa>Aaa	p.Q208K		NM_001080518	NP_001073987	Q5VXJ0	LIPK_HUMAN	Homo sapiens lipase, family member K (LIPK), mRNA.	208					lipid catabolic process	extracellular region	hydrolase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)	12		Colorectal(252;0.0381)		Colorectal(12;7.03e-05)|COAD - Colon adenocarcinoma(12;8.33e-05)		TAAATACACCCAAAGTCCTAT	0.353000														253			11		0.000308642	0.00430437	0.000308642	1	0
SLC44A5	204962	broad.mit.edu	37	1	75685015	75685015	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:75685015G>A	uc010oqz.1	-	14	1376	c.1310C>T	c.(1309-1311)tCg>tTg	p.S437L	SLC44A5_uc001dgt.2_Missense_Mutation_p.S398L|SLC44A5_uc001dgs.2_Missense_Mutation_p.S356L|SLC44A5_uc001dgr.2_Missense_Mutation_p.S356L|SLC44A5_uc001dgu.3_Missense_Mutation_p.S398L|SLC44A5_uc010ora.2_Missense_Mutation_p.S392L|SLC44A5_uc010orb.2_Missense_Mutation_p.S268L	NM_001130058	NP_001123530	Q8NCS7	CTL5_HUMAN	Homo sapiens solute carrier family 44, member 5 (SLC44A5), transcript variant 2, mRNA.	398						integral to membrane|plasma membrane	choline transmembrane transporter activity	p.S398*(2)|p.A436V(1)		kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						AGGTACCCCCGATGTCGCCAA	0.388000														41			12		0	0	0.000151284	0	0
ULK1	8408	broad.mit.edu	37	12	132393304	132393304	+	Silent	SNP	C	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr12:132393304C>T	uc001uje.3	+	5	700	c.432C>T	c.(430-432)atC>atT	p.I144I		NM_003565	NP_003556	O75385	ULK1_HUMAN	Homo sapiens unc-51-like kinase 1 (C. elegans) (ULK1), mRNA.	144	Protein kinase.				autophagy|protein localization|regulation of autophagy	ULK1-ATG13-FIP200 complex|autophagic vacuole|cytosol|pre-autophagosomal structure	ATP binding|protein complex binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	29	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07)		CGCAGAACATCCTGCTGTCCA	0.692000														14			6		0	0	3.59834e-05	0	0
ANKFY1	51479	broad.mit.edu	37	17	4111378	4111378	+	Splice_Site	SNP	C	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr17:4111378C>A	uc002fxn.3	-	6	826	c.709_splice	c.e6-1	p.D237_splice	ANKFY1_uc002fxo.3_Splice_Site_p.D195_splice|ANKFY1_uc002fxp.3_Splice_Site_p.D195_splice|ANKFY1_uc010ckp.3_Splice_Site_p.D136_splice|ANKFY1_uc002fxq.1_Splice_Site_p.D195_splice|ANKFY1_uc002fxr.3_Splice_Site_p.D195_splice	NM_016376	NP_057460	Q9P2R3	ANFY1_HUMAN	Homo sapiens ankyrin repeat and FYVE domain containing 1 (ANKFY1), transcript variant 1, mRNA.	195						endosome membrane	metal ion binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|liver(1)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						TCAGGTCGTCCTGAGAATTCA	0.443000														90			7		0.000274275	0.00385584	0.000274275	1	0
YTHDC2	64848	broad.mit.edu	37	5	112915282	112915282	+	Splice_Site	SNP	G	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr5:112915282G>T	uc003kqn.3	+	24	3447	c.3245_splice	c.e24-1	p.V1082_splice		NM_022828	NP_073739	Q9H6S0	YTDC2_HUMAN	Homo sapiens YTH domain containing 2 (YTHDC2), mRNA.	1082							ATP binding|ATP-dependent helicase activity|nucleic acid binding			NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)		TACTTGGACAGTGGATGGCAT	0.373000														173			8		1.58986e-06	2.88444e-05	0.000673444	1	0
PANK4	55229	broad.mit.edu	37	1	2450706	2450706	+	Missense_Mutation	SNP	C	G	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:2450706C>G	uc001ajm.1	-	6	920	c.911G>C	c.(910-912)gGg>gCg	p.G304A	PANK4_uc010nza.1_Missense_Mutation_p.G265A	NM_018216	NP_060686	Q9NVE7	PANK4_HUMAN	Homo sapiens pantothenate kinase 4 (PANK4), mRNA.	304					coenzyme A biosynthetic process	cytoplasm	ATP binding|pantothenate kinase activity			breast(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	23	all_cancers(77;0.000158)|all_epithelial(69;8.01e-05)|all_lung(157;0.0212)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.18e-20)|all_lung(118;1.67e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;1.54e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.95e-23)|GBM - Glioblastoma multiforme(42;2.81e-08)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.00445)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)		GGCCAGCTGCCCAATGTCGTT	0.577000														71			4		0	0	0.00024832	0	0
TRIML1	339976	broad.mit.edu	37	4	189068456	189068456	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr4:189068456C>T	uc003izm.1	+	5	1452	c.1337C>T	c.(1336-1338)tCc>tTc	p.S446F	TRIML1_uc003izn.1_Missense_Mutation_p.S170F	NM_178556	NP_848651	Q8N9V2	TRIML_HUMAN	Homo sapiens tripartite motif family-like 1 (TRIML1), mRNA.	446	B30.2/SPRY.				multicellular organismal development		ligase activity|zinc ion binding	p.F445I(1)		NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		CCTATCTTTTCCCCCTGCCTC	0.562000														108			22		0	0	0.000586117	0	0
COL6A3	1293	broad.mit.edu	37	2	238275473	238275473	+	Missense_Mutation	SNP	A	G	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr2:238275473A>G	uc002vwl.2	-	10	5642	c.5357T>C	c.(5356-5358)gTt>gCt	p.V1786A	COL6A3_uc002vwo.2_Missense_Mutation_p.V1580A|COL6A3_uc010znj.1_Missense_Mutation_p.V1179A	NM_004369	NP_004360	P12111	CO6A3_HUMAN	Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA.	1786	Nonhelical region.|VWFA 9.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		TATCTTTCCAACCTCCTCCGA	0.562000														62			6		0	0	3.59834e-05	0	0
KIAA1549	57670	broad.mit.edu	37	7	138591834	138591834	+	Silent	SNP	G	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr7:138591834G>A	uc011kql.2	-	5	3340	c.3291C>T	c.(3289-3291)acC>acT	p.T1097T	KIAA1549_uc011kqj.2_Silent_p.T1097T	NM_001164665	NP_001158137	Q9HCM3	K1549_HUMAN	Homo sapiens KIAA1549 (KIAA1549), transcript variant 2, mRNA.	1097						integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						AGGAACTGATGGTGATATTCA	0.438000			O	BRAF	pilocytic astrocytoma									57			4		0	0	3.59834e-05	0	0
PREX1	57580	broad.mit.edu	37	20	47361608	47361608	+	Missense_Mutation	SNP	G	C	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr20:47361608G>C	uc002xtw.1	-	2	391	c.368C>G	c.(367-369)cCg>cGg	p.P123R		NM_020820	NP_065871	Q8TCU6	PREX1_HUMAN	Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1 (PREX1), mRNA.	123	DH.				actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|enzyme binding|phospholipid binding	p.P123Q(3)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			CTGCGGCTCCGGGTGTAAACA	0.483000														215			8		0	0	0.000274275	0	0
PXDN	7837	broad.mit.edu	37	2	1653323	1653323	+	Silent	SNP	C	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr2:1653323C>T	uc002qxa.3	-	16	2293	c.2229G>A	c.(2227-2229)acG>acA	p.T743T		NM_012293	NP_036425	Q92626	PXDN_HUMAN	Homo sapiens peroxidasin homolog (Drosophila) (PXDN), mRNA.	743					extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		TGCCGTCGTGCGTCCGGTACT	0.607000														83			7		0	0	8.12818e-05	0	0
FBXO11	80204	broad.mit.edu	37	2	48036847	48036847	+	Splice_Site	SNP	C	G	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr2:48036847C>G	uc002rwe.3	-	20	2412	c.2339_splice	c.e20-1	p.G780_splice	FBXO11_uc010fbl.3_Splice_Site_p.G696_splice|FBXO11_uc010fbk.3_Splice_Site_p.G204_splice	NM_001190274	NP_001177203	Q86XK2	FBX11_HUMAN	Homo sapiens F-box protein 11 (FBXO11), transcript variant 4, mRNA.	780					ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|ubiquitin ligase complex	protein binding|protein-arginine N-methyltransferase activity|ubiquitin-protein ligase activity|zinc ion binding	p.0?(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	26		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			ATTTCAATACCTGAAGTAAAA	0.328000			"""Mis, F, D"""		DLBCL									43			3		0	0	6.4e-05	0	0
UTP6	55813	broad.mit.edu	37	17	30219767	30219767	+	Splice_Site	SNP	C	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr17:30219767C>A	uc002hgr.3	-	5	443	c.360_splice	c.e5+1	p.W120_splice	UTP6_uc010wbw.1_Splice_Site_p.W120_splice	NM_018428	NP_060898	Q9NYH9	UTP6_HUMAN	Homo sapiens UTP6, small subunit (SSU) processome component, homolog (yeast) (UTP6), mRNA.	120					rRNA processing	nucleolus	binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)	21		all_hematologic(16;0.0149)|Ovarian(249;0.021)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|Breast(31;0.231)				TTTACTCACCCACTTCTTACA	0.408000														71			6		0.000673444	0.00850193	0.000673444	1	0
SNAP29	9342	broad.mit.edu	37	22	21235396	21235396	+	Missense_Mutation	SNP	C	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr22:21235396C>A	uc011ahw.2	+	2	601	c.494C>A	c.(493-495)cCa>cAa	p.P165Q		NM_004782	NP_004773	O95721	SNP29_HUMAN	Homo sapiens synaptosomal-associated protein, 29kDa (SNAP29), mRNA.	165					cellular membrane fusion|exocytosis|protein transport|vesicle targeting	cell junction|cytoplasm|nucleus|synapse|synaptosome	SNAP receptor activity			breast(1)|endometrium(1)|large_intestine(5)|lung(1)|upper_aerodigestive_tract(1)	9	all_cancers(11;2.77e-25)|all_epithelial(7;8.92e-24)|Lung NSC(8;1.49e-15)|all_lung(8;2.54e-14)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000592)|Lung(15;0.0117)			GCCAGCCACCCAAACCTTAGA	0.428000														50			5		0.000157383	0.00233702	0.000157383	1	0
B4GALNT2	124872	broad.mit.edu	37	17	47247027	47247027	+	Silent	SNP	C	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr17:47247027C>T	uc002ion.2	+	10	1697	c.1638C>T	c.(1636-1638)ctC>ctT	p.L546L	B4GALNT2_uc010wlt.1_Silent_p.L460L|B4GALNT2_uc010wlu.1_Silent_p.L486L	NM_153446	NP_001152860	Q8NHY0	B4GN2_HUMAN	Homo sapiens beta-1,4-N-acetyl-galactosaminyl transferase 2 (B4GALNT2), transcript variant 1, mRNA.	546					UDP-N-acetylgalactosamine metabolic process|lipid glycosylation|negative regulation of cell-cell adhesion	integral to Golgi membrane	acetylgalactosaminyltransferase activity			endometrium(3)|large_intestine(6)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	24			all cancers(6;0.000316)			CCAACACCCTCACCCGGGTCC	0.542000														47			10		0	0	0.000442599	0	0
IL1RL1	9173	broad.mit.edu	37	2	102965572	102965572	+	Missense_Mutation	SNP	C	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr2:102965572C>A	uc002tbu.1	+	9	1422	c.1151C>A	c.(1150-1152)cCa>cAa	p.P384Q	IL18R1_uc002tbw.4_Intron	NM_016232	NP_057316	Q01638	ILRL1_HUMAN	Homo sapiens interleukin 1 receptor-like 1 (IL1RL1), transcript variant 1, mRNA.	384	TIR.				innate immune response	integral to membrane	interleukin-1 receptor activity|receptor signaling protein activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(3)|urinary_tract(1)	16						GTTGTCTACCCACGGAACTAC	0.388000														75			6		1.06961e-07	2.04675e-06	0.000157383	1	0
IFT140	9742	broad.mit.edu	37	16	1570774	1570774	+	Missense_Mutation	SNP	G	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr16:1570774G>T	uc002cmb.3	-	26	3851	c.3489C>A	c.(3487-3489)aaC>aaA	p.N1163K	IFT140_uc002clz.3_Missense_Mutation_p.N776K	NM_014714	NP_055529	Q96RY7	IF140_HUMAN	Homo sapiens intraflagellar transport 140 homolog (Chlamydomonas) (IFT140), mRNA.	1163										breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				TGATGCTCATGTTCTGCCCCA	0.632000														34			4		0.000157383	0.00233702	0.000157383	1	0
NDRG3	57446	broad.mit.edu	37	20	35315939	35315939	+	Silent	SNP	C	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr20:35315939C>A	uc002xfw.3	-	4	418	c.276G>T	c.(274-276)gtG>gtT	p.V92V	NDRG3_uc002xfx.3_Silent_p.V80V|NDRG3_uc010zvq.2_Intron|NDRG3_uc010zvr.2_Intron	NM_032013	NP_114402	Q9UGV2	NDRG3_HUMAN	Homo sapiens NDRG family member 3 (NDRG3), transcript variant 1, mRNA.	92					cell differentiation|negative regulation of cell growth|spermatogenesis	cytoplasm				endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12		Myeloproliferative disorder(115;0.00878)				CTGGGGCATCCACATGACAGA	0.458000														82			6		0.000157383	0.00233702	0.000157383	1	0
STAG2	10735	broad.mit.edu	37	X	123196817	123196817	+	Silent	SNP	C	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chrX:123196817C>A	uc004eua.3	+	17	2108	c.1704C>A	c.(1702-1704)gcC>gcA	p.A568A	STAG2_uc004etz.4_Silent_p.A568A|STAG2_uc004eub.3_Silent_p.A568A|STAG2_uc004euc.3_Silent_p.A568A|STAG2_uc004eud.3_Silent_p.A568A|STAG2_uc004eue.3_Silent_p.A568A	NM_001042749	NP_001036215	Q8N3U4	STAG2_HUMAN	Homo sapiens stromal antigen 2 (STAG2), transcript variant 1, mRNA.	568					cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						AGCTTTTTGCCGTGGCCCTTC	0.358000														96			6		0.000673444	0.00850193	0.000673444	1	0
CTNNA3	29119	broad.mit.edu	37	10	69281626	69281626	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr10:69281626C>T	uc009xpn.1	-	4	676	c.553G>A	c.(553-555)Gat>Aat	p.D185N	CTNNA3_uc001jmw.2_Missense_Mutation_p.D185N|CTNNA3_uc001jmx.4_Missense_Mutation_p.D185N|CTNNA3_uc009xpo.1_Missense_Mutation_p.D45N|CTNNA3_uc001jna.2_Missense_Mutation_p.D197N	NM_001127384	NP_037398	Q9UI47	CTNA3_HUMAN	Homo sapiens catenin (cadherin-associated protein), alpha 3 (CTNNA3), transcript variant 2, mRNA.	185					cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						GCTAAATAATCCAAATTTTCC	0.458000														62			17		0	0	0.00074312	0	0
CNGB3	54714	broad.mit.edu	37	8	87623853	87623853	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr8:87623853G>A	uc003ydx.3	-	13	1673	c.1625C>T	c.(1624-1626)tCc>tTc	p.S542F	CNGB3_uc010maj.3_Missense_Mutation_p.S404F	NM_019098	NP_061971	Q9NQW8	CNGB3_HUMAN	Homo sapiens cyclic nucleotide gated channel beta 3 (CNGB3), mRNA.	542					signal transduction|visual perception	integral to membrane	cGMP binding	p.S542S(1)		NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						ATAGAGAACGGATTTCAATCT	0.328000														118			24		0	0	0.000184323	0	0
RNF25	64320	broad.mit.edu	37	2	219529154	219529154	+	Silent	SNP	G	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr2:219529154G>A	uc002vit.3	-	9	994	c.906C>T	c.(904-906)tcC>tcT	p.S302S	RNF25_uc010fvw.3_Silent_p.S190S	NM_022453	NP_071898	Q96BH1	RNF25_HUMAN	Homo sapiens ring finger protein 25 (RNF25), mRNA.	302					positive regulation of NF-kappaB transcription factor activity	cytosol|nucleus	NF-kappaB binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24		Renal(207;0.0474)		Epithelial(149;6.99e-07)|all cancers(144;0.000129)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GTGGCAAAGTGGATTGGACGG	0.557000														96			10		0	0	0.00010058	0	0
TRIM22	10346	broad.mit.edu	37	11	5719768	5719768	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr11:5719768T>C	uc001mbr.3	+	3	1122	c.743T>C	c.(742-744)aTg>aCg	p.M248T	TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.2_Missense_Mutation_p.M216T|TRIM22_uc010qzm.2_Missense_Mutation_p.M76T|TRIM22_uc009yes.3_Missense_Mutation_p.M244T	NM_006074	NP_006065	Q8IYM9	TRI22_HUMAN	Homo sapiens tripartite motif containing 22 (TRIM22), transcript variant 1, mRNA.	248					immune response|interspecies interaction between organisms|protein trimerization|response to virus	Cajal body|Golgi apparatus|nuclear speck	ligase activity|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			kidney(3)|large_intestine(8)|lung(9)|prostate(1)|stomach(2)	23		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;7.54e-09)|BRCA - Breast invasive adenocarcinoma(625;0.14)		TCAGTAGAGATGCTGCAGGTA	0.542000														34			6		0	0	3.59834e-05	0	0
CDK13	8621	broad.mit.edu	37	7	40134525	40134525	+	Missense_Mutation	SNP	G	C	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr7:40134525G>C	uc003thh.4	+	13	4767	c.4485G>C	c.(4483-4485)agG>agC	p.R1495S	CDK13_uc003thi.4_Missense_Mutation_p.R1435S|CDK13_uc003thj.3_Missense_Mutation_p.R546S|CDK13_uc003thk.3_Missense_Mutation_p.R428S	NM_003718	NP_003709	Q14004	CDK13_HUMAN	Homo sapiens cyclin-dependent kinase 13 (CDK13), transcript variant 1, mRNA.	1495					alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck	ATP binding|RNA polymerase II carboxy-terminal domain kinase activity|cyclin-dependent protein kinase activity|protein binding			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1)	49						AAGGATACAGGGGACATATTA	0.478000														109			6		0	0	0.000442599	0	0
ADAMTS6	11174	broad.mit.edu	37	5	64569214	64569214	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr5:64569214G>A	uc003jtp.3	-	11	2387	c.1573C>T	c.(1573-1575)Cca>Tca	p.P525S	ADAMTS6_uc003jto.3_Non-coding_Transcript|ADAMTS6_uc003jtq.3_Non-coding_Transcript|ADAMTS6_uc003jtr.1_Missense_Mutation_p.P146S	NM_197941	NP_922932	Q9UKP5	ATS6_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 6 (ADAMTS6), mRNA.	525	Disintegrin.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.P525T(1)		breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(3)	18		Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235)		Lung(70;0.00942)		TCAGCTGCTGGAATACTGTTG	0.418000														128			23		0	0	0.000184323	0	0
FAM117B	150864	broad.mit.edu	37	2	203630191	203630191	+	Missense_Mutation	SNP	C	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr2:203630191C>A	uc010zhx.2	+	7	1484	c.1474C>A	c.(1474-1476)Cca>Aca	p.P492T		NM_173511	NP_775782	Q6P1L5	F117B_HUMAN	Homo sapiens family with sequence similarity 117, member B (FAM117B), mRNA.	492										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)	17						TCATGAAATCCCAGCCTTTTA	0.388000														307			11		4.3838e-07	8.19794e-06	0.000151284	1	0
WDR47	22911	broad.mit.edu	37	1	109553612	109553612	+	Silent	SNP	C	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:109553612C>A	uc001dwl.3	-	4	1453	c.1077G>T	c.(1075-1077)ggG>ggT	p.G359G	WDR47_uc001dwi.3_Silent_p.G352G|WDR47_uc001dwj.3_Silent_p.G352G|WDR47_uc001dwk.2_Silent_p.G324G|WDR47_uc010ovf.2_Silent_p.G279G	NM_001142550	NP_001136022	O94967	WDR47_HUMAN	Homo sapiens WD repeat domain 47 (WDR47), transcript variant 1, mRNA.	352										breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20		all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822)		Colorectal(144;0.0165)|Lung(183;0.0484)|COAD - Colon adenocarcinoma(174;0.128)|Epithelial(280;0.168)|all cancers(265;0.201)|LUSC - Lung squamous cell carcinoma(189;0.244)		GGTTTTGTACCCCTGGATAAT	0.408000														408			14		7.07596e-05	0.00113768	0.00074312	1	0
FBN1	2200	broad.mit.edu	37	15	48718018	48718018	+	Silent	SNP	C	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr15:48718018C>T	uc001zwx.2	-	58	7643	c.7248G>A	c.(7246-7248)ggG>ggA	p.G2416G	FBN1_uc010beo.2_Non-coding_Transcript	NM_000138	NP_000129	P35555	FBN1_HUMAN	Homo sapiens fibrillin 1 (FBN1), mRNA.	2416	EGF-like 41; calcium-binding.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		TGACACATTCCCCATTTCGGC	0.323000														145			6		0	0	3.59834e-05	0	0
NUP62CL	54830	broad.mit.edu	37	X	106418328	106418328	+	Missense_Mutation	SNP	C	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chrX:106418328C>A	uc004ena.3	-	2	308	c.49G>T	c.(49-51)Ggg>Tgg	p.G17W	NUP62CL_uc004enb.3_Non-coding_Transcript	NM_017681	NP_060151	Q9H1M0	N62CL_HUMAN	Homo sapiens nucleoporin 62kDa C-terminal like (NUP62CL), transcript variant 1, mRNA.	17	Thr-rich.				protein transport	nuclear pore	structural constituent of nuclear pore			lung(4)	4						CATGAGAGCCCAATAGCAGCA	0.423000														305			13		0.000308642	0.00430437	0.000308642	1	0
HMCN1	83872	broad.mit.edu	37	1	186158700	186158700	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:186158700C>T	uc001grq.1	+	106	16827	c.16598C>T	c.(16597-16599)gCc>gTc	p.A5533V	MIR548F1_uc021pgf.1_Intron|HMCN1_uc001grs.1_Missense_Mutation_p.A985V	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	Homo sapiens hemicentin 1 (HMCN1), mRNA.	5533					response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						AGCCCATATGCCTTGGAATAC	0.448000														68			8		0	0	0.000442599	0	0
MUC16	94025	broad.mit.edu	37	19	8976756	8976756	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr19:8976756C>T	uc002mkp.3	-	72	42514	c.42310G>A	c.(42310-42312)Ggg>Agg	p.G14104R	MUC16_uc010dwi.3_Non-coding_Transcript|MUC16_uc010dwj.3_Missense_Mutation_p.G904R|MUC16_uc021uog.1_Intron	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	14135	SEA 14.			Missing (in Ref. 3; AAK74120).	cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGAAGGACCCCCTCGGTGGAG	0.562000														60			10		0	0	6.40141e-05	0	0
ZNF280D	54816	broad.mit.edu	37	15	56958672	56958672	+	Missense_Mutation	SNP	G	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr15:56958672G>T	uc002adu.3	-	15	2132	c.1915C>A	c.(1915-1917)Cac>Aac	p.H639N	ZNF280D_uc002adv.3_Missense_Mutation_p.H626N|ZNF280D_uc010bfq.3_Missense_Mutation_p.H639N|ZNF280D_uc002adw.1_Missense_Mutation_p.H667N|ZNF280D_uc010bfr.1_Non-coding_Transcript|ZNF280D_uc010bfp.3_Non-coding_Transcript	NM_017661	NP_001002843	Q6N043	Z280D_HUMAN	Homo sapiens zinc finger protein 280D (ZNF280D), transcript variant 1, mRNA.	639					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(5)|kidney(4)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	30				all cancers(107;0.0399)|GBM - Glioblastoma multiforme(80;0.0787)		GTAGGAAAGTGGTTTGCAAAA	0.338000														111			6		0.000157383	0.00233702	0.000157383	1	0
OR3A1	4994	broad.mit.edu	37	17	3195183	3195183	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr17:3195183G>A	uc002fvh.1	-	0	694	c.694C>T	c.(694-696)Cgc>Tgc	p.R232C		NM_002550	NP_002541	P47881	OR3A1_HUMAN	Homo sapiens olfactory receptor, family 3, subfamily A, member 1 (OR3A1), mRNA.	232					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R232C(4)		central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	20						TCTACAGAGCGAATTCGCAGG	0.493000														50			12		0	0	0.00010058	0	0
C15orf55	256646	broad.mit.edu	37	15	34646877	34646877	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr15:34646877C>T	uc010ucc.2	+	5	1688	c.1306C>T	c.(1306-1308)Cca>Tca	p.P436S	C15orf55_uc010ucd.2_Missense_Mutation_p.P426S|C15orf55_uc001zif.3_Missense_Mutation_p.P408S	NM_175741	NP_786883	Q86Y26	NUT_HUMAN	Homo sapiens chromosome 15 open reading frame 55 (C15orf55), mRNA.	408						cytoplasm|nucleus			BRD4_ENST00000263377/C15orf55(24)|BRD3/C15orf55(3)	large_intestine(2)|ovary(3)|skin(2)	7		all_lung(180;2.78e-08)		all cancers(64;4.53e-18)|GBM - Glioblastoma multiforme(113;8.29e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0249)		GTATCCAGATCCAGGTCTCCT	0.532000			T	"""BRD3, BRD4"""	lethal midline carcinoma									166			15		0	0	0.000566183	0	0
TRAF7	84231	broad.mit.edu	37	16	2222336	2222336	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr16:2222336C>T	uc002cow.3	+	7	719	c.620C>T	c.(619-621)cCc>cTc	p.P207L		NM_032271	NP_115647	Q6Q0C0	TRAF7_HUMAN	Homo sapiens TNF receptor-associated factor 7 (TRAF7), mRNA.	207					activation of MAPKKK activity|apoptosis|regulation of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic membrane-bounded vesicle|ubiquitin ligase complex	identical protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	23						GAGGTGGACCCCCGAGGGTGC	0.682000														25			4		0	0	3.59834e-05	0	0
RAET1E	135250	broad.mit.edu	37	6	150209777	150209777	+	Missense_Mutation	SNP	G	C	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr6:150209777G>C	uc003qnl.1	-	3	782	c.649C>G	c.(649-651)Cac>Gac	p.H217D	LOC100652739_uc003qni.2_Intron|RAET1E_uc003qnj.3_Intron|RAET1E_uc003qnk.2_Missense_Mutation_p.H181D|RAET1E_uc010kih.1_Non-coding_Transcript|LOC100652739_uc021zgr.1_5'Flank	NM_139165	NP_631904	Q8TD07	N2DL4_HUMAN	Homo sapiens retinoic acid early transcript 1E (RAET1E), transcript variant 1, mRNA.	217					antigen processing and presentation|immune response|regulation of immune response	MHC class I protein complex|integral to membrane	protein binding			cervix(1)|kidney(2)|large_intestine(3)|lung(3)|skin(1)	10		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.58e-12)		GAAGACCAGTGGATATCTGAA	0.348000														38			4		0	0	0.00024832	0	0
KCNQ3	3786	broad.mit.edu	37	8	133192412	133192412	+	Missense_Mutation	SNP	G	C	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr8:133192412G>C	uc003ytj.3	-	3	994	c.769C>G	c.(769-771)Cac>Gac	p.H257D	KCNQ3_uc003yti.3_Missense_Mutation_p.H137D|KCNQ3_uc010mdt.3_Missense_Mutation_p.H257D	NM_004519	NP_004510	O43525	KCNQ3_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 3 (KCNQ3), transcript variant 1, mRNA.	257					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			ACTTTGCTGTGGGCACAGATG	0.597000														49			4		0	0	3.59834e-05	0	0
PCNT	5116	broad.mit.edu	37	21	47768942	47768942	+	Missense_Mutation	SNP	G	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr21:47768942G>T	uc002zji.4	+	6	1156	c.1049G>T	c.(1048-1050)tGg>tTg	p.W350L	PCNT_uc002zjj.3_Missense_Mutation_p.W232L|PCNT_uc010gqk.1_Non-coding_Transcript	NM_006031	NP_006022	O95613	PCNT_HUMAN	Homo sapiens pericentrin (PCNT), mRNA.	350	Glu-rich.				G2/M transition of mitotic cell cycle|cilium assembly	cytosol|microtubule	calmodulin binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					AAGGAAGATTGGGAATCTGAA	0.308000														306			11		2.31682e-05	0.000392345	0.000308642	1	0
NEFM	4741	broad.mit.edu	37	8	24775234	24775234	+	Silent	SNP	G	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr8:24775234G>T	uc003xed.4	+	2	1899	c.1866G>T	c.(1864-1866)gtG>gtT	p.V622V	NEFM_uc011lac.1_Intron|NEFM_uc010lue.3_Silent_p.V246V	NM_005382	NP_005373	P07197	NFM_HUMAN	Homo sapiens neurofilament, medium polypeptide (NEFM), transcript variant 1, mRNA.	622	6 X 13 AA approximate tandem repeats of K-S-P-V-[PS]-K-S-P-V-E-E-[KA]-[GAK].|Tail.					neurofilament	protein binding|structural constituent of cytoskeleton			breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1)	36		Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		AATCACCAGTGGAAGAGAAAG	0.522000														79			6		0.000157383	0.00233702	0.000157383	1	0
STRN3	29966	broad.mit.edu	37	14	31420082	31420082	+	Missense_Mutation	SNP	G	C	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr14:31420082G>C	uc001wqu.2	-	3	745	c.529C>G	c.(529-531)Cag>Gag	p.Q177E	STRN3_uc001wqv.2_Missense_Mutation_p.Q177E|STRN3_uc010tpj.1_Non-coding_Transcript	NM_001083893	NP_001077362	Q13033	STRN3_HUMAN	Homo sapiens striatin, calmodulin binding protein 3 (STRN3), transcript variant 1, mRNA.	177	Calmodulin-binding (Potential).				negative regulation of estrogen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|response to estradiol stimulus	Golgi apparatus|cytoplasm|dendrite|neuronal cell body|nucleoplasm|nucleus|plasma membrane|protein complex	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.0124)		CTTAAAAGCTGTCTGCCTTGC	0.338000														158			6		0	0	3.59834e-05	0	0
MCOLN1	57192	broad.mit.edu	37	19	7595189	7595189	+	Missense_Mutation	SNP	G	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr19:7595189G>T	uc002mgo.3	+	11	1518	c.1377G>T	c.(1375-1377)atG>atT	p.M459I	MCOLN1_uc002mgp.3_Missense_Mutation_p.M424I	NM_020533	NP_065394	Q9GZU1	MCLN1_HUMAN	Homo sapiens mucolipin 1 (MCOLN1), mRNA.	459					calcium ion transport|cellular iron ion homeostasis|transferrin transport	integral to plasma membrane|late endosome membrane|lysosomal membrane	cation channel activity|iron ion transmembrane transporter activity			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CACTCTCCATGGTGTCTGAGT	0.652000														162			9		1.58986e-06	2.88444e-05	0.000673444	1	0
EIF2AK3	9451	broad.mit.edu	37	2	88888352	88888352	+	Silent	SNP	G	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr2:88888352G>T	uc002stc.4	-	6	1535	c.1233C>A	c.(1231-1233)ccC>ccA	p.P411P		NM_004836	NP_004827	Q9NZJ5	E2AK3_HUMAN	Homo sapiens eukaryotic translation initiation factor 2-alpha kinase 3 (EIF2AK3), mRNA.	411					ER overload response|activation of caspase activity|bone mineralization|calcium-mediated signaling|chondrocyte development|endocrine pancreas development|endoplasmic reticulum organization|endoplasmic reticulum unfolded protein response|insulin secretion|insulin-like growth factor receptor signaling pathway|negative regulation of myelination|negative regulation of translational initiation in response to stress|protein autophosphorylation|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|identical protein binding			ovary(3)	3						CCAAAGCCTTGGGACTTGAAG	0.353000														395			18		5.35047e-06	9.43788e-05	0.00047179	1	0
TAL1	6886	broad.mit.edu	37	1	47691495	47691495	+	Silent	SNP	G	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:47691495G>T	uc001cqx.2	-	1	643	c.66C>A	c.(64-66)gcC>gcA	p.A22A	TAL1_uc009vyq.2_5'Flank|TAL1_uc001cqy.2_Silent_p.A22A|TAL1_uc001cra.1_Intron|TAL1_uc001cqz.1_Intron	NM_003189	NP_003180	P17542	TAL1_HUMAN	Homo sapiens T-cell acute lymphocytic leukemia 1 (TAL1), mRNA.	22					basophil differentiation|cell fate commitment|cell proliferation|embryonic hemopoiesis|erythrocyte differentiation|megakaryocyte differentiation|positive regulation of cell division|positive regulation of chromatin assembly or disassembly|positive regulation of erythrocyte differentiation|positive regulation of mitotic cell cycle|positive regulation of protein complex assembly|positive regulation of transcription from RNA polymerase II promoter	nuclear chromatin	E-box binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity			haematopoietic_and_lymphoid_tissue(1)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	15						TGCTGGCCTCGGCCGCGTCCC	0.731000			T	"""TRD@, SIL"""	lymphoblastic leukemia/biphasic									19			4		0.000157383	0.00233702	0.000157383	1	0
USP32	84669	broad.mit.edu	37	17	58348745	58348745	+	Missense_Mutation	SNP	C	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr17:58348745C>A	uc002iyo.1	-	5	955	c.669G>T	c.(667-669)ttG>ttT	p.L223F	USP32_uc010wov.1_Missense_Mutation_p.L223F	NM_032582	NP_115971	Q8NFA0	UBP32_HUMAN	Homo sapiens ubiquitin specific peptidase 32 (USP32), mRNA.	223					protein deubiquitination|ubiquitin-dependent protein catabolic process	Golgi apparatus|membrane	calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			GTGGTGAAACCAATGGGCCAA	0.413000														86			6		0.000442599	0.00580232	0.000442599	1	0
ARSG	22901	broad.mit.edu	37	17	66381205	66381205	+	Splice_Site	SNP	G	C	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr17:66381205G>C	uc002jhc.2	+	9	1779	c.983_splice	c.e9-1	p.G328_splice		NM_014960	NP_055775	Q96EG1	ARSG_HUMAN	Homo sapiens arylsulfatase G (ARSG), mRNA.	328					sulfur compound metabolic process	endoplasmic reticulum|extracellular space|lysosome	arylsulfatase activity|metal ion binding			NS(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	26			BRCA - Breast invasive adenocarcinoma(8;5.34e-07)|LUSC - Lung squamous cell carcinoma(166;0.24)			CCTCTCACAGGGGGAAGTCCA	0.572000														69			4		0	0	0.00024832	0	0
TRPC7	57113	broad.mit.edu	37	5	135587525	135587525	+	Missense_Mutation	SNP	C	G	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr5:135587525C>G	uc003lbn.2	-	5	1613	c.1391G>C	c.(1390-1392)cGg>cCg	p.R464P	TRPC7_uc010jef.2_Missense_Mutation_p.R400P|TRPC7_uc010jeg.2_Non-coding_Transcript|TRPC7_uc010jej.2_Missense_Mutation_p.R15P|TRPC7_uc010jeh.2_Missense_Mutation_p.R403P|TRPC7_uc010jei.2_Missense_Mutation_p.R348P	NM_020389	NP_065122	Q9HCX4	TRPC7_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 7 (TRPC7), transcript variant 1, mRNA.	464					axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CACGTACTCCCGTGGCCCCTC	0.547000														56			4		0	0	0.000157383	0	0
SDK2	54549	broad.mit.edu	37	17	71387647	71387647	+	Missense_Mutation	SNP	G	C	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr17:71387647G>C	uc010dfm.3	-	27	3929	c.3929C>G	c.(3928-3930)cCa>cGa	p.P1310R	SDK2_uc002jjt.4_Missense_Mutation_p.P469R|SDK2_uc010dfn.2_Missense_Mutation_p.P989R	NM_001144952	NP_001138424	Q58EX2	SDK2_HUMAN	Homo sapiens sidekick cell adhesion molecule 2 (SDK2), mRNA.	1310	Fibronectin type-III 8.				cell adhesion	integral to membrane				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						CCGCACCTCTGGGAACAGGAT	0.672000														21			4		0	0	3.59834e-05	0	0
DQ586822	0	broad.mit.edu	37	15	84945337	84945337	+	RNA	SNP	C	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr15:84945337C>T	uc002bke.2	-	0		c.1913G>A								Homo sapiens cDNA FLJ34196 fis, clone FCBBF3019437.																		CACACACCCCCACCAGCCCTA	0.607000														37			4		0	0	0.00024832	0	0
DHPS	1725	broad.mit.edu	37	19	12792466	12792466	+	Missense_Mutation	SNP	C	G	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr19:12792466C>G	uc002muh.2	-	0	236	c.115G>C	c.(115-117)Ggt>Cgt	p.G39R	DHPS_uc002mug.2_5'Flank|DHPS_uc002mui.2_Missense_Mutation_p.G39R|DHPS_uc002muk.2_Non-coding_Transcript|DHPS_uc010xmn.2_Non-coding_Transcript	NM_001930	NP_001921	P49366	DHYS_HUMAN	Homo sapiens deoxyhypusine synthase (DHPS), transcript variant 1, mRNA.	39					peptidyl-lysine modification to hypusine|positive regulation of cell proliferation|post-translational protein modification|spermidine catabolic process to deoxyhypusine, using deoxyhypusine synthase|translation	cytosol	deoxyhypusine synthase activity|protein binding			central_nervous_system(1)|kidney(1)|large_intestine(3)|liver(1)|lung(2)	8					Sulfadoxine(DB01299)	TAATTCACACCGCGGTTGAAG	0.657000														45			4		0	0	3.59834e-05	0	0
KCNH5	27133	broad.mit.edu	37	14	63269219	63269219	+	Silent	SNP	A	C	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr14:63269219A>C	uc001xfx.3	-	8	1701	c.1650T>G	c.(1648-1650)gcT>gcG	p.A550A	KCNH5_uc001xfy.3_Silent_p.A550A|KCNH5_uc001xfz.1_Silent_p.A492A	NM_139318	NP_647479	Q8NCM2	KCNH5_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 5 (KCNH5), transcript variant 1, mRNA.	550					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		CCAATCGAAAAGCAGGATGTT	0.498000														59			7		0	0	8.12818e-05	0	0
LGR6	59352	broad.mit.edu	37	1	202276531	202276531	+	Splice_Site	SNP	T	C	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:202276531T>C	uc001gxu.3	+	14	1280	c.1280_splice	c.e14+2	p.L427_splice	LGR6_uc001gxv.3_Splice_Site_p.L375_splice|LGR6_uc009xab.3_Splice_Site|LGR6_uc001gxw.3_Splice_Site_p.L288_splice	NM_001017403	NP_001017403	Q9HBX8	LGR6_HUMAN	Homo sapiens leucine-rich repeat containing G protein-coupled receptor 6 (LGR6), transcript variant 1, mRNA.	427						integral to membrane|plasma membrane	protein-hormone receptor activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						GGTCAAGCTGTAAGTGCCTGC	0.617000														54			3		0	0	0.00024832	0	0
BAI2	576	broad.mit.edu	37	1	32205182	32205182	+	Missense_Mutation	SNP	G	C	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:32205182G>C	uc001btn.3	-	14	2576	c.2222C>G	c.(2221-2223)cCc>cGc	p.P741R	BAI2_uc010ogn.2_5'Flank|BAI2_uc010ogo.2_Missense_Mutation_p.P383R|BAI2_uc010ogp.2_Missense_Mutation_p.P674R|BAI2_uc010ogq.2_Missense_Mutation_p.P741R|BAI2_uc001bto.3_Missense_Mutation_p.P741R|BAI2_uc001btp.1_5'Flank|BAI2_uc001btq.1_Missense_Mutation_p.P674R|BAI2_uc010ogr.1_3'UTR	NM_001703	NP_001694	O60241	BAI2_HUMAN	Homo sapiens brain-specific angiogenesis inhibitor 2 (BAI2), mRNA.	741					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		GCCCCGCATGGGGAACGTGAT	0.637000														51			3		0	0	0.000602214	0	0
OR5T3	390154	broad.mit.edu	37	11	56020415	56020415	+	Missense_Mutation	SNP	C	T	T	rs149435695		TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr11:56020415C>T	uc010rjd.2	+	0	740	c.740C>T	c.(739-741)tCc>tTc	p.S247F		NM_001004747	NP_001004747	Q8NGG3	OR5T3_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily T, member 3 (OR5T3), mRNA.	247					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S247Y(2)		breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	39	Esophageal squamous(21;0.00448)					GTCCTCATTTCCTGTGATTTC	0.423000														148			18		0	0	0.000132079	0	0
OR7A10	390892	broad.mit.edu	37	19	14952072	14952072	+	Silent	SNP	C	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr19:14952072C>A	uc002mzx.1	-	0	618	c.618G>T	c.(616-618)ctG>ctT	p.L206L		NM_001005190	NP_001005190	O76100	OR7AA_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily A, member 10 (OR7A10), mRNA.	206					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|stomach(1)	19	Ovarian(108;0.203)					GACCACCGCCCAGCAGCGCTA	0.448000														109			6		0.000157383	0.00233702	0.000157383	1	0
PIWIL3	440822	broad.mit.edu	37	22	25147427	25147427	+	Missense_Mutation	SNP	C	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr22:25147427C>A	uc003abd.1	-	8	1433	c.1016G>T	c.(1015-1017)tGg>tTg	p.W339L	PIWIL3_uc011ajx.1_Missense_Mutation_p.W230L|PIWIL3_uc010gut.1_Missense_Mutation_p.W339L|PIWIL3_uc011ajy.1_Missense_Mutation_p.W230L	NM_001008496	NP_001008496	Q7Z3Z3	PIWL3_HUMAN	Homo sapiens piwi-like 3 (Drosophila) (PIWIL3), transcript variant 1, mRNA.	339	PAZ.				cell differentiation|gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatogenesis	cytoplasm	RNA binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(15)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						ATTCTGCTTCCAATCAATATC	0.333000														246			11		3.52763e-06	6.28593e-05	0.000566183	1	0
RPGRIP1L	23322	broad.mit.edu	37	16	53683028	53683028	+	Splice_Site	SNP	C	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr16:53683028C>A	uc002ehp.3	-	16	2217	c.2153_splice	c.e16-1	p.G718_splice	RPGRIP1L_uc002eho.4_Splice_Site_p.G718_splice|RPGRIP1L_uc010vgy.2_Splice_Site_p.G718_splice|RPGRIP1L_uc010cbx.3_Splice_Site_p.G718_splice|RPGRIP1L_uc010vgz.1_Splice_Site_p.G718_splice	NM_015272	NP_056087	Q68CZ1	FTM_HUMAN	Homo sapiens RPGRIP1-like (RPGRIP1L), transcript variant 1, mRNA.	718					negative regulation of G-protein coupled receptor protein signaling pathway	cell-cell junction|centrosome|cilium axoneme|microtubule basal body	thromboxane A2 receptor binding			endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2)	46		all_cancers(37;0.0973)				CCTTTTGTTCCTACAAATCAG	0.338000														342			13		9.31168e-06	0.000162005	0.000151284	1	0
POTEH	23784	broad.mit.edu	37	22	16279248	16279248	+	Silent	SNP	C	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr22:16279248C>T	uc010gqp.2	-	3	1027	c.975G>A	c.(973-975)gtG>gtA	p.V325V	POTEH_uc002zlg.1_Non-coding_Transcript|POTEH_uc002zlh.1_Silent_p.V44V|POTEH_uc002zlj.1_Silent_p.V160V	NM_001136213	NP_001129685	Q6S545	POTEH_HUMAN	Homo sapiens POTE ankyrin domain family, member H (POTEH), mRNA.	325										NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						TTAAAAATTTCACCACTTGCT	0.328000														749			21		0	0	0.000175454	0	0
PKD1L1	168507	broad.mit.edu	37	7	47924216	47924216	+	Missense_Mutation	SNP	G	C	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr7:47924216G>C	uc003tny.2	-	18	3279	c.3245C>G	c.(3244-3246)cCa>cGa	p.P1082R		NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	Homo sapiens polycystic kidney disease 1 like 1 (PKD1L1), mRNA.	1082	REJ.				cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						TCCTCCCGATGGTATTGCTTC	0.438000														60			4		0	0	0.000157383	0	0
LOC494141	494141	broad.mit.edu	37	11	18231828	18231828	+	RNA	SNP	T	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr11:18231828T>A	uc009yhh.3	+	1		c.852T>A			LOC494141_uc001mnx.4_Non-coding_Transcript|LOC494141_uc009yhi.2_Non-coding_Transcript					Homo sapiens mitochondrial carrier triple repeat 1 pseudogene (LOC494141), transcript variant 1, non-coding RNA.																		AAGGAGCATCTGCCTACCGCG	0.428000														105			14		0	0	0.000151284	0	0
SATB1	6304	broad.mit.edu	37	3	18419777	18419777	+	Missense_Mutation	SNP	G	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr3:18419777G>T	uc003cbh.3	-	8	3195	c.1460C>A	c.(1459-1461)cCa>cAa	p.P487Q	SATB1_uc003cbi.3_Missense_Mutation_p.P487Q|SATB1_uc003cbj.3_Missense_Mutation_p.P487Q	NM_002971	NP_002962	Q01826	SATB1_HUMAN	Homo sapiens SATB homeobox 1 (SATB1), transcript variant 1, mRNA.	487					cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter	PML body|nuclear matrix	double-stranded DNA binding|sequence-specific DNA binding			NS(2)|breast(2)|endometrium(6)|large_intestine(4)|lung(10)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	32						ATTGTTCTCTGGTTTCCCATT	0.383000														154			8		3.07112e-06	5.48644e-05	6.40141e-05	1	0
INADL	10207	broad.mit.edu	37	1	62299334	62299334	+	Missense_Mutation	SNP	C	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:62299334C>A	uc001dab.3	+	16	2103	c.1989C>A	c.(1987-1989)caC>caA	p.H663Q	INADL_uc009waf.1_Missense_Mutation_p.H663Q|INADL_uc001daa.2_Missense_Mutation_p.H663Q|INADL_uc001dad.3_Missense_Mutation_p.H360Q|INADL_uc001dac.3_Non-coding_Transcript	NM_176877	NP_795352	Q8NI35	INADL_HUMAN	Homo sapiens InaD-like (Drosophila) (INADL), mRNA.	663					intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						AGGTTGACCACAATATGGATG	0.368000														59			6		0.000157383	0.00233702	0.000157383	1	0
TMTC4	84899	broad.mit.edu	37	13	101315391	101315391	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr13:101315391G>A	uc001vot.3	-	4	692	c.379C>T	c.(379-381)Cac>Tac	p.H127Y	TMTC4_uc001vou.3_Missense_Mutation_p.H108Y|TMTC4_uc010tja.2_Intron	NM_032813	NP_001073137	Q5T4D3	TMTC4_HUMAN	Homo sapiens transmembrane and tetratricopeptide repeat containing 4 (TMTC4), transcript variant 1, mRNA.	108						integral to membrane	binding			breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					TTGACCACGTGAAAGCCCACG	0.577000														55			15		0	0	0.000566183	0	0
KDM5B	10765	broad.mit.edu	37	1	202698864	202698864	+	Missense_Mutation	SNP	C	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:202698864C>A	uc009xag.3	-	26	4692	c.4576G>T	c.(4576-4578)Gtg>Ttg	p.V1526L	KDM5B_uc001gyf.3_Missense_Mutation_p.V1490L|KDM5B_uc001gyg.1_Missense_Mutation_p.V1332L	NM_006618	NP_006609	Q9UGL1	KDM5B_HUMAN	Homo sapiens lysine (K)-specific demethylase 5B (KDM5B), mRNA.	1490					negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						AGGCAGCTCACAGCTGGGCAG	0.502000														91			6		0.000274275	0.00385584	0.000274275	1	0
WTIP	126374	broad.mit.edu	37	19	34984430	34984430	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr19:34984430G>A	uc002nvm.3	+	4	934	c.934G>A	c.(934-936)Ggc>Agc	p.G312S		NM_001080436	NP_001073905			Homo sapiens Wilms tumor 1 interacting protein (WTIP), mRNA.											NS(1)|large_intestine(2)|lung(1)	4	all_lung(56;5.94e-07)|Lung NSC(56;9.35e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)			CTACCACCCAGGCTGCTTCCG	0.647000														48			4		0	0	0.00024832	0	0
PDE8B	8622	broad.mit.edu	37	5	76715591	76715591	+	Splice_Site	SNP	G	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr5:76715591G>T	uc003kfa.3	+	19	2175	c.2130_splice	c.e19-1	p.R710_splice	PDE8B_uc003kfd.3_Splice_Site_p.R663_splice|PDE8B_uc003kfe.3_Splice_Site_p.R613_splice|PDE8B_uc003kfb.3_Splice_Site_p.R690_splice|PDE8B_uc003kfc.3_Splice_Site_p.R655_splice	NM_003719	NP_003710	O95263	PDE8B_HUMAN	Homo sapiens phosphodiesterase 8B (PDE8B), transcript variant 1, mRNA.	710	Catalytic (By similarity).				cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity		GMDS/PDE8B(2)	NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(15)|ovary(1)|prostate(2)|skin(3)	40		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)		OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38)		GGTTATTTTAGGAACCATTAT	0.418000														365			13		0.000422831	0.00580232	0.000422831	1	0
RGPD3	653489	broad.mit.edu	37	2	107049658	107049658	+	Silent	SNP	G	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr2:107049658G>T	uc010ywi.1	-	15	2346	c.2289C>A	c.(2287-2289)ctC>ctA	p.L763L		NM_001144013	NP_001137485	A6NKT7	RGPD3_HUMAN	Homo sapiens RANBP2-like and GRIP domain containing 3 (RGPD3), mRNA.	763					intracellular transport		binding			breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						CATTTTTATAGAGAGGACCTC	0.373000														424			13		7.07596e-05	0.00113768	0.00074312	1	0
INSR	3643	broad.mit.edu	37	19	7168046	7168046	+	Nonsense_Mutation	SNP	T	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr19:7168046T>A	uc002mgd.1	-	6	1652	c.1543A>T	c.(1543-1545)Aga>Tga	p.R515*	INSR_uc002mge.1_Nonsense_Mutation_p.R515*|INSR_uc002mgf.3_Nonsense_Mutation_p.R515*	NM_000208	NP_000199	P06213	INSR_HUMAN	Homo sapiens insulin receptor (INSR), transcript variant 1, mRNA.	515					G-protein coupled receptor protein signaling pathway|activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of DNA replication|positive regulation of MAPKKK cascade|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus	caveola|endosome membrane|insulin receptor complex|microsome	ATP binding|GTP binding|PTB domain binding|SH2 domain binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|receptor signaling protein tyrosine kinase activity			breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GGCTCCCATCTCAGCAAGATC	0.438000														354			50		0	0	0.000781405	0	0
NCF2	4688	broad.mit.edu	37	1	183529292	183529292	+	Silent	SNP	C	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:183529292C>T	uc001gqj.4	-	13	1682	c.1407G>A	c.(1405-1407)gaG>gaA	p.E469E	NCF2_uc010pod.2_Silent_p.E424E|NCF2_uc010poe.2_Silent_p.E388E|NCF2_uc001gqk.4_Silent_p.E469E	NM_000433	NP_001121123	P19878	NCF2_HUMAN	Homo sapiens neutrophil cytosolic factor 2 (NCF2), transcript variant 1, mRNA.	469	SH3 2.				cellular defense response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex|nucleolus	electron carrier activity|protein C-terminus binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30						GTTGGGTAGCCTCATAACTGA	0.438000														167			57		0	0	0.000781405	0	0
EIF2AK3	9451	broad.mit.edu	37	2	88885362	88885362	+	Missense_Mutation	SNP	G	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr2:88885362G>T	uc002stc.4	-	8	1949	c.1647C>A	c.(1645-1647)caC>caA	p.H549Q		NM_004836	NP_004827	Q9NZJ5	E2AK3_HUMAN	Homo sapiens eukaryotic translation initiation factor 2-alpha kinase 3 (EIF2AK3), mRNA.	549					ER overload response|activation of caspase activity|bone mineralization|calcium-mediated signaling|chondrocyte development|endocrine pancreas development|endoplasmic reticulum organization|endoplasmic reticulum unfolded protein response|insulin secretion|insulin-like growth factor receptor signaling pathway|negative regulation of myelination|negative regulation of translational initiation in response to stress|protein autophosphorylation|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|identical protein binding			ovary(3)	3						TTCTTACCCTGTGAGGATGAG	0.443000														151			8		0.000442599	0.00580232	0.000442599	1	0
TNR	7143	broad.mit.edu	37	1	175360543	175360543	+	Missense_Mutation	SNP	G	C	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:175360543G>C	uc001gkp.1	-	4	1469	c.1388C>G	c.(1387-1389)cCc>cGc	p.P463R	TNR_uc009wwu.1_Missense_Mutation_p.P463R	NM_003285	NP_003276	Q92752	TENR_HUMAN	Homo sapiens tenascin R (restrictin, janusin) (TNR), mRNA.	463	Fibronectin type-III 2.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					AACATCGCTGGGGACCTGAGC	0.512000														50			4		0	0	0.000157383	0	0
KIAA0100	9703	broad.mit.edu	37	17	26962453	26962453	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr17:26962453G>A	uc002hbu.3	-	15	2255	c.2152C>T	c.(2152-2154)Cgt>Tgt	p.R718C		NM_014680	NP_055495	Q14667	K0100_HUMAN	Homo sapiens KIAA0100 (KIAA0100), mRNA.	718						extracellular region				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					TCAGGGGCACGGCCTTCTAGC	0.522000														92			10		0	0	0.000442599	0	0
C18orf26	284254	broad.mit.edu	37	18	52258570	52258570	+	Splice_Site	SNP	G	C	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr18:52258570G>C	uc002lfq.1	+	1	181	c.135_splice	c.e1+1	p.P45_splice		NM_173629	NP_775900	Q8N1N2	CR026_HUMAN	Homo sapiens chromosome 18 open reading frame 26 (C18orf26), mRNA.	45						integral to membrane				endometrium(4)|large_intestine(2)|lung(2)|skin(2)|upper_aerodigestive_tract(1)	11				Colorectal(16;0.0193)|READ - Rectum adenocarcinoma(59;0.178)		AAAACCAGCCGGTGAGTGTCC	0.368000														101			4		0	0	3.59834e-05	0	0
PSMC6	5706	broad.mit.edu	37	14	53184854	53184854	+	Silent	SNP	C	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr14:53184854C>T	uc010tqx.2	+	7	627	c.627C>T	c.(625-627)ttC>ttT	p.F209F	PSMC6_uc010tqw.2_Silent_p.F175F	NM_002806	NP_002797	P62333	PRS10_HUMAN	Homo sapiens proteasome (prosome, macropain) 26S subunit, ATPase, 6 (PSMC6), mRNA.	195					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|viral reproduction	cytoplasm|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding, bridging			breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)	19	Breast(41;0.176)					ACTGCAATTTCTTAAAGGTAA	0.328000														150			21		0	0	0.00047179	0	0
MYH8	4626	broad.mit.edu	37	17	10317756	10317756	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr17:10317756C>T	uc002gmm.2	-	9	946	c.851G>A	c.(850-852)aGa>aAa	p.R284K	AK097500_uc002gml.1_Intron	NM_002472	NP_002463	P13535	MYH8_HUMAN	Homo sapiens myosin, heavy chain 8, skeletal muscle, perinatal (MYH8), mRNA.	284	Myosin head-like.				muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						ATGGTAGCTTCTTTCCGCCTT	0.318000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling					80			13		0	0	0.000308642	0	0
CLMP	79827	broad.mit.edu	37	11	122955376	122955376	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr11:122955376C>T	uc001pyt.3	-	2	591	c.232G>A	c.(232-234)Gaa>Aaa	p.E78K		NM_024769	NP_079045	Q9H6B4	CLMP_HUMAN	Homo sapiens CXADR-like membrane protein (CLMP), mRNA.	78	Ig-like C2-type 1.					integral to membrane|tight junction				endometrium(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	14						CCCTTCTGTTCCTCAGTCAAG	0.532000														68			14		0	0	0.000219431	0	0
OR1Q1	158131	broad.mit.edu	37	9	125377554	125377554	+	Missense_Mutation	SNP	G	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr9:125377554G>T	uc011lyy.2	+	0	538	c.538G>T	c.(538-540)Gac>Tac	p.D180Y		NM_012364	NP_036496	Q15612	OR1Q1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily Q, member 1 (OR1Q1), mRNA.	180					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)	17						CTTCTTCTGTGACCTCTACGC	0.493000														106			7		3.09899e-07	5.82643e-06	0.000274275	1	0
POTEH	23784	broad.mit.edu	37	22	16267062	16267062	+	Missense_Mutation	SNP	G	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr22:16267062G>T	uc010gqp.2	-	8	1439	c.1387C>A	c.(1387-1389)Cat>Aat	p.H463N	POTEH_uc002zlg.1_Non-coding_Transcript|POTEH_uc002zlh.1_Missense_Mutation_p.H182N|POTEH_uc002zlj.1_Missense_Mutation_p.H298N	NM_001136213	NP_001129685	Q6S545	POTEH_HUMAN	Homo sapiens POTE ankyrin domain family, member H (POTEH), mRNA.	463										NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						AATCCCATATGAGTACTTCCG	0.378000														397			14		1.2644e-06	2.31802e-05	0.000175454	1	0
ARHGAP28	79822	broad.mit.edu	37	18	6887173	6887173	+	Missense_Mutation	SNP	G	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr18:6887173G>T	uc002knc.3	+	11	4526	c.1315G>T	c.(1315-1317)Gta>Tta	p.V439L	ARHGAP28_uc002kne.3_Missense_Mutation_p.V332L|ARHGAP28_uc010wzi.2_Missense_Mutation_p.V314L|ARHGAP28_uc002knf.3_Missense_Mutation_p.V323L	NM_001010000	NP_001010000	B4DXL2	B4DXL2_HUMAN	Homo sapiens Rho GTPase activating protein 28 (ARHGAP28), mRNA.	314					signal transduction	intracellular				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	37		Colorectal(10;0.168)				TCACGTCAAAGTACAGTTTCA	0.498000														56			4		0.000157383	0.00233702	0.000157383	1	0
EEFSEC	60678	broad.mit.edu	37	3	128126924	128126924	+	Missense_Mutation	SNP	C	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr3:128126924C>A	uc003eki.3	+	6	1651	c.1613C>A	c.(1612-1614)cCc>cAc	p.P538H		NM_021937	NP_068756	P57772	SELB_HUMAN	Homo sapiens eukaryotic elongation factor, selenocysteine-tRNA-specific (EEFSEC), mRNA.	538						cytoplasm|nucleus	GTP binding|GTPase activity|translation elongation factor activity			NS(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)	25						GGCCTCAGCCCCGAGTCCAAG	0.697000														19			4		0.000602214	0.00786534	0.000602214	1	0
MUSK	4593	broad.mit.edu	37	9	113510077	113510077	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr9:113510077G>A	uc022blv.1	+	6	1044	c.910G>A	c.(910-912)Gca>Aca	p.A304T	MUSK_uc022blt.1_Missense_Mutation_p.A304T|MUSK_uc004bez.2_Splice_Site_p.I313_splice|MUSK_uc022blu.1_Splice_Site_p.I303_splice	NM_005592	NP_005583	O15146	MUSK_HUMAN	Homo sapiens muscle, skeletal, receptor tyrosine kinase (MUSK), transcript variant 1, mRNA.	304					transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						CATCAGCATAGCAGGTAGGAT	0.468000														48			5		0	0	0.000602214	0	0
MPDZ	8777	broad.mit.edu	37	9	13133826	13133826	+	Silent	SNP	G	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr9:13133826G>T	uc010mia.1	-	30	4518	c.4461C>A	c.(4459-4461)ccC>ccA	p.P1487P	MPDZ_uc003zky.4_Silent_p.P49P|MPDZ_uc010mib.3_Silent_p.P192P|MPDZ_uc010mhx.3_Silent_p.P309P|MPDZ_uc011lmm.2_Silent_p.P346P|MPDZ_uc003zkz.4_Silent_p.P180P|MPDZ_uc010mhz.3_Silent_p.P1454P|MPDZ_uc011lmn.2_Silent_p.P1454P|MPDZ_uc010mhy.3_Silent_p.P1487P|MPDZ_uc003zlb.4_Silent_p.P1487P	NM_003829	NP_003820	O75970	MPDZ_HUMAN	Homo sapiens multiple PDZ domain protein (MPDZ), mRNA.	1487	PDZ 9.				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		GATTTACCTTGGGAAGCTCCA	0.408000														23			4		5.9392e-07	1.1077e-05	3.59834e-05	1	0
SYNJ1	8867	broad.mit.edu	37	21	34056396	34056396	+	Missense_Mutation	SNP	C	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr21:34056396C>A	uc002yqh.2	-	9	1269	c.1269G>T	c.(1267-1269)ttG>ttT	p.L423F	SYNJ1_uc011ads.1_Missense_Mutation_p.L384F|SYNJ1_uc002yqf.2_Missense_Mutation_p.L384F|SYNJ1_uc002yqg.2_Missense_Mutation_p.L384F|SYNJ1_uc002yqi.2_Missense_Mutation_p.L423F	NM_003895	NP_003886	O43426	SYNJ1_HUMAN	Homo sapiens synaptojanin 1 (SYNJ1), transcript variant 1, mRNA.	384	SAC.						RNA binding|inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						CAAGACAATCCAAGCAGTTTG	0.333000														116			7		0.000442599	0.00580232	0.000442599	1	0
IL17RA	23765	broad.mit.edu	37	22	17583192	17583192	+	Splice_Site	SNP	G	C	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr22:17583192G>C	uc002zly.3	+	7	893	c.762_splice	c.e7+1	p.A254_splice		NM_014339	NP_055154	Q96F46	I17RA_HUMAN	Homo sapiens interleukin 17 receptor A (IL17RA), mRNA.	254					fibroblast activation|positive regulation of interleukin-23 production	integral to plasma membrane	interleukin-17 receptor activity			endometrium(2)|large_intestine(8)|lung(16)|ovary(1)|skin(2)|stomach(1)	30		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)		Colorectal(9;0.241)		ACATACCTGCGGTAACTCTGC	0.527000														117			5		0	0	0.000602214	0	0
GAS2L2	246176	broad.mit.edu	37	17	34074128	34074128	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr17:34074128C>T	uc002hjv.2	-	4	1020	c.992G>A	c.(991-993)cGa>cAa	p.R331Q		NM_139285	NP_644814	Q8NHY3	GA2L2_HUMAN	Homo sapiens growth arrest-specific 2 like 2 (GAS2L2), mRNA.	331					cell cycle arrest	cytoplasm|cytoskeleton				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CCTCAGCCTTCGGTCTGAAGA	0.632000														90			15		0	0	0.000308642	0	0
ATAD2	29028	broad.mit.edu	37	8	124349872	124349872	+	Missense_Mutation	SNP	G	C	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr8:124349872G>C	uc003yqh.4	-	20	3152	c.3044C>G	c.(3043-3045)cCt>cGt	p.P1015R	ATAD2_uc011lii.2_Missense_Mutation_p.P806R|ATAD2_uc003yqi.4_Non-coding_Transcript	NM_014109	NP_054828	Q6PL18	ATAD2_HUMAN	Homo sapiens ATPase family, AAA domain containing 2 (ATAD2), mRNA.	1015	Bromo.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity	p.D1014H(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			TACCTCATCAGGGTCAACAGG	0.368000														102			5		0	0	8.12818e-05	0	0
LHX4	89884	broad.mit.edu	37	1	180235663	180235663	+	Missense_Mutation	SNP	G	A	A	rs150875319	byFrequency	TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:180235663G>A	uc001goe.2	+	2	617	c.385G>A	c.(385-387)Gaa>Aaa	p.E129K		NM_033343	NP_203129	Q969G2	LHX4_HUMAN	Homo sapiens LIM homeobox 4 (LHX4), mRNA.	129	LIM zinc-binding 2.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)	16						CACGGGGGACGAATTCTACCT	0.607000														59			12		0	0	0.000151284	0	0
ZNF844	284391	broad.mit.edu	37	19	12187394	12187394	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr19:12187394T>C	uc002mtb.2	+	3	1602	c.1459T>C	c.(1459-1461)Ttt>Ctt	p.F487L	ZNF844_uc010dym.1_Missense_Mutation_p.F330L	NM_001136501	NP_001129973	Q08AG5	ZN844_HUMAN	Homo sapiens zinc finger protein 844 (ZNF844), mRNA.	487					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.F487L(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(1)|prostate(1)	10						GCCTTCATTTTTTCCACTTCC	0.448000														133			7		0	0	0.000442599	0	0
AADACL4	343066	broad.mit.edu	37	1	12726682	12726682	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:12726682C>T	uc001auf.3	+	3	1160	c.1160C>T	c.(1159-1161)gCt>gTt	p.A387V		NM_001013630	NP_001013652	Q5VUY2	ADCL4_HUMAN	Homo sapiens arylacetamide deacetylase-like 4 (AADACL4), mRNA.	387						integral to membrane	carboxylesterase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)	17	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384)		GATAAGAAGGCTCTCTCTTTC	0.478000														132			10		0	0	0.000442599	0	0
CACNA1S	779	broad.mit.edu	37	1	201028386	201028386	+	Silent	SNP	G	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:201028386G>A	uc001gvv.3	-	26	3683	c.3456C>T	c.(3454-3456)atC>atT	p.I1152I		NM_000069	NP_000060	Q13698	CAC1S_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1S subunit (CACNA1S), mRNA.	1152					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	CCACATTGAGGATGTCTGAGA	0.582000														57			6		0	0	0.000157383	0	0
OR2W5	441932	broad.mit.edu	37	1	247654918	247654918	+	Silent	SNP	G	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:247654918G>A	uc001icz.2	+	0	549	c.489G>A	c.(487-489)acG>acA	p.T163T		NM_001004698	NP_001004698	A6NFC9	OR2W5_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily W, member 5 (OR2W5), mRNA.	163					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(24)|ovary(1)|skin(4)	39	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.222)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			GTCCTCAGACGATGCAGCTCT	0.557000														82			23		0	0	0.000229342	0	0
SCD	6319	broad.mit.edu	37	10	102108059	102108059	+	Missense_Mutation	SNP	G	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr10:102108059G>T	uc001kqy.3	+	1	756	c.266G>T	c.(265-267)gGg>gTg	p.G89V		NM_005063	NP_005054	O00767	ACOD_HUMAN	Homo sapiens stearoyl-CoA desaturase (delta-9-desaturase) (SCD), mRNA.	89					fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	iron ion binding|stearoyl-CoA 9-desaturase activity			endometrium(1)|large_intestine(3)|lung(5)	9		Colorectal(252;0.0323)		Epithelial(162;1.97e-10)|all cancers(201;1.73e-08)		GCCCTGTATGGGATCACTTTG	0.507000														122			8		0.000274275	0.00385584	0.000274275	1	0
AKTIP	64400	broad.mit.edu	37	16	53526643	53526643	+	Missense_Mutation	SNP	C	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr16:53526643C>A	uc002ehm.3	-	8	915	c.733G>T	c.(733-735)Gta>Tta	p.V245L	AKTIP_uc002ehk.3_Missense_Mutation_p.V245L|AKTIP_uc002ehl.3_Missense_Mutation_p.V245L	NM_022476	NP_071921	Q9H8T0	AKTIP_HUMAN	Homo sapiens AKT interacting protein (AKTIP), transcript variant 2, mRNA.	245					apoptosis|early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|positive regulation of protein binding|positive regulation of protein phosphorylation|protein transport	FHF complex|plasma membrane	acid-amino acid ligase activity|protein binding			large_intestine(1)|lung(2)|prostate(2)	5		all_cancers(37;0.14)				TCATCATGTACAGAAGGATTC	0.318000														514			15		7.07596e-05	0.00113768	0.00074312	1	0
PELP1	27043	broad.mit.edu	37	17	4577907	4577907	+	Missense_Mutation	SNP	G	C	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr17:4577907G>C	uc002fyi.4	-	12	1706	c.1480C>G	c.(1480-1482)Ccc>Gcc	p.P494A	PELP1_uc010vsf.2_Missense_Mutation_p.P347A	NM_014389	NP_055204	Q8IZL8	PELP1_HUMAN	Homo sapiens proline, glutamate and leucine rich protein 1 (PELP1), mRNA.	494					transcription, DNA-dependent	MLL1 complex|cytoplasm	protein binding	p.P544T(1)		breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	15						AGCTTCTTGGGGGCGCTAGGC	0.592000														46			4		0	0	0.00024832	0	0
MADD	8567	broad.mit.edu	37	11	47308052	47308052	+	Missense_Mutation	SNP	C	G	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr11:47308052C>G	uc001ner.1	+	14	2811	c.2620C>G	c.(2620-2622)Cga>Gga	p.R874G	MADD_uc001neq.2_Missense_Mutation_p.R874G|MADD_uc001nev.1_Missense_Mutation_p.R831G|MADD_uc001nes.1_Missense_Mutation_p.R831G|MADD_uc001net.1_Missense_Mutation_p.R874G|MADD_uc009yln.1_Missense_Mutation_p.R831G|MADD_uc001neu.1_Missense_Mutation_p.R831G|MADD_uc001nez.2_Missense_Mutation_p.R831G|MADD_uc001new.2_Missense_Mutation_p.R874G|MADD_uc001nex.2_Missense_Mutation_p.R874G	NM_003682	NP_003673	Q8WXG6	MADD_HUMAN	Homo sapiens MAP-kinase activating death domain (MADD), transcript variant 4, mRNA.	874					activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle	cytoplasm|integral to membrane|plasma membrane	Rab guanyl-nucleotide exchange factor activity|death receptor binding|protein kinase activator activity			breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84				Lung(87;0.182)		CAAAGGTGCCCGAGAGAAGGC	0.547000														107			5		0	0	3.59834e-05	0	0
CACNA2D3	55799	broad.mit.edu	37	3	54604103	54604103	+	Missense_Mutation	SNP	G	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr3:54604103G>T	uc003dhf.3	+	7	908	c.860G>T	c.(859-861)gGg>gTg	p.G287V	CACNA2D3_uc011beu.1_Non-coding_Transcript|CACNA2D3_uc003dhg.1_Missense_Mutation_p.G193V|CACNA2D3_uc003dhh.1_Non-coding_Transcript|CACNA2D3_uc010hmv.1_Missense_Mutation_p.G21V	NM_018398	NP_060868	Q8IZS8	CA2D3_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 3 (CACNA2D3), mRNA.	287	VWFA.					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		GATACACTTGGGGATGATGAC	0.443000														140			9		0.000673444	0.00850193	0.000673444	1	0
ACAN	176	broad.mit.edu	37	15	89416118	89416118	+	Nonsense_Mutation	SNP	G	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr15:89416118G>T	uc010upo.1	+	15	7569	c.7195G>T	c.(7195-7197)Gag>Tag	p.E2399*	ACAN_uc010upp.1_Nonsense_Mutation_p.E2361*|ACAN_uc002bna.2_Non-coding_Transcript	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	Homo sapiens aggrecan (ACAN), transcript variant 2, mRNA.	2399					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			ACAGCAATTTGAGAACTGGCG	0.577000														50			5		0.000274275	0.00385584	0.000274275	1	0
PARP2	10038	broad.mit.edu	37	14	20823075	20823075	+	Nonsense_Mutation	SNP	G	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr14:20823075G>T	uc001vxc.3	+	8	938	c.910G>T	c.(910-912)Gaa>Taa	p.E304*	PARP2_uc001vxb.1_Nonsense_Mutation_p.E304*|PARP2_uc001vxd.3_Nonsense_Mutation_p.E291*|PARP2_uc010tle.2_Nonsense_Mutation_p.E54*	NM_005484	NP_005475	Q9UGN5	PARP2_HUMAN	Homo sapiens poly (ADP-ribose) polymerase 2 (PARP2), transcript variant 1, mRNA.	304	PARP alpha-helical.				protein ADP-ribosylation	nucleolus|nucleoplasm	DNA binding|NAD+ ADP-ribosyltransferase activity			central_nervous_system(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)	15	all_cancers(95;0.00092)	all_lung(585;0.235)	Epithelial(56;5.34e-07)|all cancers(55;3.7e-06)	GBM - Glioblastoma multiforme(265;0.00888)|READ - Rectum adenocarcinoma(17;0.0649)		AGCATGCAATGAATTCTACAC	0.473000								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA						143			8		0.000274275	0.00385584	0.000274275	1	0
SSX7	280658	broad.mit.edu	37	X	52681978	52681978	+	Silent	SNP	G	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chrX:52681978G>A	uc004dqx.1	-	2	285	c.126C>T	c.(124-126)tcC>tcT	p.S42S		NM_173358	NP_775494	Q7RTT5	SSX7_HUMAN	Homo sapiens synovial sarcoma, X breakpoint 7 (SSX7), mRNA.	42	KRAB-related.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|skin(1)	16	Ovarian(276;0.236)					TTTTCTCCAAGGATTTCATCT	0.378000														195			29		0	0	0.000692331	0	0
CELSR3	1951	broad.mit.edu	37	3	48684205	48684205	+	Missense_Mutation	SNP	C	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr3:48684205C>A	uc003cuf.1	-	22	7496	c.7496G>T	c.(7495-7497)cGa>cTa	p.R2499L	CELSR3_uc010hkf.3_5'Flank|CELSR3_uc010hkg.3_Missense_Mutation_p.R412L|CELSR3_uc003cul.3_Missense_Mutation_p.R2429L|CELSR3_uc021wxq.1_5'Flank	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 3 (flamingo homolog, Drosophila) (CELSR3), mRNA.	2429	GPS.				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CCTGGCACCTCGGCGTTCTGC	0.597000														46			4		0.000157383	0.00233702	0.000157383	1	0
UGT2B4	7363	broad.mit.edu	37	4	70346553	70346553	+	Silent	SNP	G	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr4:70346553G>A	uc003hek.4	-	5	1433	c.1386C>T	c.(1384-1386)ttC>ttT	p.F462F	UGT2B4_uc011cap.2_Silent_p.F326F|UGT2B4_uc003hel.4_3'UTR	NM_021139	NP_066962	P06133	UD2B4_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B4 (UGT2B4), mRNA.	462					estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	p.F462L(2)|p.V461V(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47						ATTCAATCCAGAAGACTGCTC	0.443000														131			7		0	0	0.000274275	0	0
SPOCK3	50859	broad.mit.edu	37	4	167675875	167675875	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr4:167675875C>T	uc011cjq.1	-	6	808	c.751G>A	c.(751-753)Gat>Aat	p.D251N	SPOCK3_uc021xuf.1_Missense_Mutation_p.D242N|SPOCK3_uc011cjr.1_Missense_Mutation_p.D122N|SPOCK3_uc003iri.1_Missense_Mutation_p.D242N|SPOCK3_uc011cjs.1_Missense_Mutation_p.D191N|SPOCK3_uc003irj.1_Missense_Mutation_p.D239N|SPOCK3_uc011cjt.1_Missense_Mutation_p.D150N|SPOCK3_uc011cjp.2_Missense_Mutation_p.D199N|SPOCK3_uc011cju.1_Missense_Mutation_p.D146N|SPOCK3_uc011cjv.1_Missense_Mutation_p.D144N|SPOCK3_uc003irk.4_Missense_Mutation_p.D239N	NM_001204353	NP_001191282	Q9BQ16	TICN3_HUMAN	Homo sapiens sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3 (SPOCK3), transcript variant 4, mRNA.	242					signal transduction	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase inhibitor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	38	all_hematologic(180;0.221)	Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198)		GBM - Glioblastoma multiforme(119;0.02)		ATGCTGGTATCGAATCCTAAA	0.388000														37			6		0	0	3.59834e-05	0	0
GPHN	10243	broad.mit.edu	37	14	67555707	67555707	+	Missense_Mutation	SNP	G	C	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr14:67555707G>C	uc001xiy.3	+	10	2174	c.1053G>C	c.(1051-1053)atG>atC	p.M351I	GPHN_uc001xix.3_Missense_Mutation_p.M384I|GPHN_uc010tss.2_Missense_Mutation_p.M397I|GPHN_uc010tst.2_Missense_Mutation_p.M320I|GPHN_uc010tsu.2_Missense_Mutation_p.M274I	NM_001024218	NP_001019389	Q9NQX3	GEPH_HUMAN	Homo sapiens gephyrin (GPHN), transcript variant 2, mRNA.	351	MPT adenylyltransferase.				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cell junction|cytoplasm|cytoskeleton|postsynaptic membrane	ATP binding|metal ion binding|nucleotidyltransferase activity			large_intestine(8)|liver(1)|ovary(2)|stomach(1)	12		all_cancers(7;0.0476)|all_hematologic(31;0.0116)		Epithelial(1;1.73e-08)|all cancers(60;3.15e-07)|OV - Ovarian serous cystadenocarcinoma(108;0.000275)|BRCA - Breast invasive adenocarcinoma(234;0.00323)|Colorectal(3;0.0938)|KIRC - Kidney renal clear cell carcinoma(182;0.184)		CAGATGGAATGGGGCGAGTCC	0.428000			T	MLL	AL									95			4		0	0	0.00024832	0	0
CPAMD8	27151	broad.mit.edu	37	19	17120125	17120125	+	Silent	SNP	T	C	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr19:17120125T>C	uc002nfb.3	-	5	665	c.633A>G	c.(631-633)gaA>gaG	p.E211E		NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN	Homo sapiens C3 and PZP-like, alpha-2-macroglobulin domain containing 8 (CPAMD8), mRNA.	164						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						GGATGTAGGCTTCCAGCTGTA	0.562000														78			6		0	0	0.000157383	0	0
C1orf168	199920	broad.mit.edu	37	1	57257937	57257937	+	Silent	SNP	C	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:57257937C>T	uc001cym.4	-	1	955	c.549G>A	c.(547-549)agG>agA	p.R183R	C1orf168_uc009vzu.1_Non-coding_Transcript|C1orf168_uc009vzv.1_Silent_p.R183R	NM_001004303	NP_001004303	Q5VWT5	CA168_HUMAN	Homo sapiens chromosome 1 open reading frame 168 (C1orf168), mRNA.	183										NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2)	46						CCAGCTTTTTCCTGGGTTCCT	0.478000														99			9		0	0	0.000274275	0	0
EXOC6	54536	broad.mit.edu	37	10	94688095	94688095	+	Splice_Site	SNP	G	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr10:94688095G>T	uc010qnr.2	+	10	1080	c.937_splice	c.e10-1	p.G313_splice	EXOC6_uc001kie.3_Splice_Site_p.G292_splice|EXOC6_uc001kig.3_Splice_Site_p.G297_splice|EXOC6_uc009xub.3_Splice_Site_p.G297_splice|EXOC6_uc009xuc.3_Splice_Site_p.G274_splice|EXOC6_uc001kih.3_5'Flank	NM_001013848	NP_001013870	Q8TAG9	EXOC6_HUMAN	Homo sapiens exocyst complex component 6 (EXOC6), transcript variant 2, mRNA.	297					protein transport|vesicle docking involved in exocytosis	exocyst				cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	26		Colorectal(252;0.123)				TTTTATTTTAGGGTGACGAGG	0.333000														215			11		7.93312e-07	1.45819e-05	0.000219431	1	0
WBP11	51729	broad.mit.edu	37	12	14952596	14952596	+	Silent	SNP	G	T	T	rs75889856		TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr12:14952596G>T	uc001rci.3	-	3	324	c.163C>A	c.(163-165)Cga>Aga	p.R55R		NM_016312	NP_057396	Q9Y2W2	WBP11_HUMAN	Homo sapiens WW domain binding protein 11 (WBP11), mRNA.	55					RNA splicing|mRNA processing|rRNA processing	cytoplasm	WW domain binding|single-stranded DNA binding	p.I54T(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)	30						TCCATGTCTCGGATTATCTGT	0.413000														39			8		2.17888e-05	0.000371685	0.000442599	1	0
ZNF114	163071	broad.mit.edu	37	19	48789587	48789587	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr19:48789587C>T	uc002pil.1	+	5	1203	c.706C>T	c.(706-708)Ctt>Ttt	p.L236F	ZNF114_uc010elv.1_Missense_Mutation_p.L236F|ZNF114_uc002pim.1_Missense_Mutation_p.L236F|ZNF114_uc002pin.2_Missense_Mutation_p.L202F	NM_153608	NP_705836	Q8NC26	ZN114_HUMAN	Homo sapiens zinc finger protein 114 (ZNF114), mRNA.	236					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(6)|lung(11)	18		all_epithelial(76;8.01e-05)|all_lung(116;0.000112)|Lung NSC(112;0.000192)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;7.56e-05)|all cancers(93;0.000113)|Epithelial(262;0.00962)|GBM - Glioblastoma multiforme(486;0.0153)		AGACGGATCCCTTAGGGCACA	0.463000														104			20		0	0	0.000132079	0	0
DENND2A	27147	broad.mit.edu	37	7	140223203	140223203	+	Silent	SNP	G	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr7:140223203G>A	uc010lnk.3	-	16	3089	c.2569C>T	c.(2569-2571)Ctg>Ttg	p.L857L	DENND2A_uc011kre.2_Non-coding_Transcript|DENND2A_uc010lnj.3_Silent_p.L857L|DENND2A_uc003vvw.3_Silent_p.L857L	NM_015689	NP_056504	Q9ULE3	DEN2A_HUMAN	Homo sapiens DENN/MADD domain containing 2A (DENND2A), mRNA.	857										breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49	Melanoma(164;0.00956)					TTCCGGGGCAGGATGGAGTCC	0.602000														55			12		0	0	0.00010058	0	0
DSC2	1824	broad.mit.edu	37	18	28662900	28662900	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr18:28662900G>A	uc002kwl.4	-	7	1523	c.1069C>T	c.(1069-1071)Cgt>Tgt	p.R357C	DSC2_uc002kwk.4_Missense_Mutation_p.R357C	NM_024422	NP_077740	Q02487	DSC2_HUMAN	Homo sapiens desmocollin 2 (DSC2), transcript variant Dsc2a, mRNA.	357	Cadherin 3.				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			ACAGAAGTACGAGTAAATGTT	0.358000														51			6		0	0	3.59834e-05	0	0
PRDM5	11107	broad.mit.edu	37	4	121631501	121631501	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr4:121631501T>C	uc003idn.3	-	14	1941	c.1691A>G	c.(1690-1692)aAg>aGg	p.K564R	PRDM5_uc003ido.3_Missense_Mutation_p.K533R|PRDM5_uc010ine.3_3'UTR	NM_018699	NP_061169	Q9NQX1	PRDM5_HUMAN	Homo sapiens PR domain containing 5 (PRDM5), mRNA.	564					histone H3-K9 methylation|histone deacetylation|mitotic cell cycle|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	repressing transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(17)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						GTGCGTCCTCTTGTGCTCATC	0.488000														34			5		0	0	0.000602214	0	0
SERPINA13	388007	broad.mit.edu	37	14	95109995	95109995	+	Missense_Mutation	SNP	C	G	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr14:95109995C>G	uc001ydt.3	+	2	1032	c.944C>G	c.(943-945)cCc>cGc	p.P315R						Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 13 (pseudogene) (SERPINA13), non-coding RNA.											endometrium(1)|large_intestine(1)|lung(9)|skin(1)	12						TTCATCTTCCCCAACAGGGGC	0.582000														37			3		0	0	0.00024832	0	0
SLC15A2	6565	broad.mit.edu	37	3	121615297	121615297	+	Silent	SNP	G	C	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr3:121615297G>C	uc003eep.2	+	1	303	c.150G>C	c.(148-150)gtG>gtC	p.V50V	SLC15A2_uc011bjn.1_Silent_p.V50V	NM_021082	NP_066568	Q16348	S15A2_HUMAN	Homo sapiens solute carrier family 15 (H+/peptide transporter), member 2 (SLC15A2), transcript variant 1, mRNA.	50					protein transport	integral to plasma membrane	peptide:hydrogen symporter activity|protein binding	p.V50V(2)		NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(114;0.0967)	Cefadroxil(DB01140)	CCTTCATTGTGGTGAATGAAT	0.438000														137			7		0	0	0.000274275	0	0
ZSCAN29	146050	broad.mit.edu	37	15	43661153	43661154	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr15:43661153_43661154GG>TT	uc001zrk.1	-	1	637_638	c.490_491CC>AA	c.(490-492)cca>AAa	p.P164K	ZSCAN29_uc001zrj.1_Missense_Mutation_p.P44K|ZSCAN29_uc010bdg.1_Missense_Mutation_p.P163K|ZSCAN29_uc010bdf.1_Missense_Mutation_p.P163K|ZSCAN29_uc001zrl.1_Non-coding_Transcript|ZSCAN29_uc001zrm.3_Missense_Mutation_p.P163K|TUBGCP4_uc001zrn.3_5'Flank|TUBGCP4_uc001zro.3_5'Flank	NM_152455	NP_689668	Q8IWY8	ZSC29_HUMAN	Homo sapiens zinc finger and SCAN domain containing 29 (ZSCAN29), mRNA.	164					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(7)|skin(2)	24		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.97e-07)		CTTCTCCTTTGGGTTCATCTGC	0.515000														289			11		0	0	6.4e-05	0	0
KIAA1191	57179	broad.mit.edu	37	5	175774960	175774960	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr5:175774960G>A	uc003mdw.3	-	7	1045	c.673C>T	c.(673-675)Ctc>Ttc	p.L225F	KIAA1191_uc003mdx.3_Missense_Mutation_p.L206F|KIAA1191_uc003mdy.3_Missense_Mutation_p.L225F|KIAA1191_uc003mea.3_Missense_Mutation_p.L18F|KIAA1191_uc003mdz.3_Non-coding_Transcript	NM_020444	NP_001073152	Q96A73	K1191_HUMAN	Homo sapiens KIAA1191 (KIAA1191), transcript variant 1, mRNA.	225				L -> P (in Ref. 3; CAG33612).			protein binding			endometrium(1)|kidney(1)|lung(2)|ovary(1)|skin(1)	6	all_cancers(89;0.00575)|Renal(175;0.000269)|Lung NSC(126;0.0105)|all_lung(126;0.0168)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Kidney(146;0.101)		GGTCCAAAGAGGCTCCACTTA	0.483000														151			7		0	0	0.000274275	0	0
TRIOBP	11078	broad.mit.edu	37	22	38121705	38121705	+	Nonsense_Mutation	SNP	G	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr22:38121705G>T	uc003atr.3	+	6	3413	c.3142G>T	c.(3142-3144)Gag>Tag	p.E1048*	TRIOBP_uc003atu.3_Nonsense_Mutation_p.E876*|TRIOBP_uc003atq.1_Nonsense_Mutation_p.E1048*|TRIOBP_uc003ats.1_Nonsense_Mutation_p.E876*	NM_001039141	NP_001034230	Q9H2D6	TARA_HUMAN	Homo sapiens TRIO and F-actin binding protein (TRIOBP), transcript variant 6, mRNA.	1048					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)					CCGCGCCCCTGAGAGTGAACC	0.672000														129			7		5.50884e-06	9.65634e-05	0.00010058	1	0
PCK1	5105	broad.mit.edu	37	20	56138687	56138687	+	Missense_Mutation	SNP	G	C	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr20:56138687G>C	uc002xyn.4	+	5	1028	c.865G>C	c.(865-867)Ggg>Cgg	p.G289R	PCK1_uc010zzm.2_Intron	NM_002591	NP_002582	P35558	PCKGC_HUMAN	Homo sapiens phosphoenolpyruvate carboxykinase 1 (soluble) (PCK1), mRNA.	289					gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus	cytosol|nucleus	GTP binding|carboxylic acid binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity	p.G289W(4)		endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			CAGCGCCTGCGGGAAGACCAA	0.547000														80			4		0	0	0.00024832	0	0
ARHGEF10	9639	broad.mit.edu	37	8	1833827	1833827	+	Missense_Mutation	SNP	C	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr8:1833827C>A	uc003wpr.3	+	10	1314	c.1136C>A	c.(1135-1137)cCg>cAg	p.P379Q	ARHGEF10_uc003wpq.1_Missense_Mutation_p.P404Q|ARHGEF10_uc003wps.3_Missense_Mutation_p.P341Q|ARHGEF10_uc003wpt.3_Missense_Mutation_p.P255Q|ARHGEF10_uc003wpv.3_Missense_Mutation_p.P112Q|ARHGEF10_uc010lre.3_Missense_Mutation_p.P59Q	NM_014629	NP_055444	O15013	ARHGA_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 10 (ARHGEF10), mRNA.	404					centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis	centrosome|cytosol|soluble fraction	Rho guanyl-nucleotide exchange factor activity|kinesin binding	p.N378K(1)		endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1)	35		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)		TGCAAGCACCCGGAAGCCATC	0.443000														76			5		3.59834e-05	0.000594959	3.59834e-05	1	0
ITIH6	347365	broad.mit.edu	37	X	54783527	54783527	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chrX:54783527G>A	uc004dtj.2	-	7	3010	c.2980C>T	c.(2980-2982)Cct>Tct	p.P994S		NM_198510	NP_940912	Q6UXX5	ITH5L_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain family, member 6 (ITIH6), mRNA.	994	Pro-rich.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	p.P994S(1)									ATGGCCTCAGGGAGGATGCTA	0.542000														79			5		0	0	0.000602214	0	0
TGIF2LX	90316	broad.mit.edu	37	X	89177130	89177130	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chrX:89177130G>A	uc022bzr.1	+	0	46	c.46G>A	c.(46-48)Gaa>Aaa	p.E16K	TGIF2LX_uc004efe.3_Missense_Mutation_p.E16K	NM_138960	NP_620410	Q8IUE1	TF2LX_HUMAN	Homo sapiens TGFB-induced factor homeobox 2-like, X-linked (TGIF2LX), mRNA.	16						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.V15V(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(29)|ovary(1)|skin(3)|urinary_tract(1)	40						AAGCCCGGTGGAAAAAGACAG	0.527000														98			13		0	0	0.000219431	0	0
HNF1A	6927	broad.mit.edu	37	12	121416718	121416718	+	Silent	SNP	C	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr12:121416718C>T	uc001tzg.3	+	0	170	c.147C>T	c.(145-147)tcC>tcT	p.S49S	HNF1A_uc021rex.1_Intron|HNF1A_uc021rey.1_Intron|HNF1A_uc021rez.1_Intron|HNF1A_uc001tze.2_Silent_p.S49S|HNF1A_uc001tzf.3_Silent_p.S49S|HNF1A_uc010szn.2_Silent_p.S49S|HNF1A_uc021rfa.1_Silent_p.S49S|HNF1A_uc021rfb.1_5'UTR|HNF1A_uc021rfc.1_Non-coding_Transcript	NM_000545	NP_000536	P20823	HNF1A_HUMAN	Homo sapiens HNF1 homeobox A (HNF1A), mRNA.	49					glucose homeostasis|glucose import|insulin secretion|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|renal glucose absorption	cytoplasm|nucleus|protein complex	DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|protein dimerization activity|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	p.D45fs*9(1)|p.D45fs*102(1)|p.?(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(8)|large_intestine(19)|liver(175)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	221	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					AGGGGGAGTCCTGCGGCGGCG	0.682000									Hepatic Adenoma, Familial Clustering of					198			12		0	0	0.000219431	0	0
SKIL	6498	broad.mit.edu	37	3	170079214	170079214	+	Silent	SNP	C	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr3:170079214C>A	uc003fgu.3	+	1	1807	c.1095C>A	c.(1093-1095)tcC>tcA	p.S365S	SKIL_uc011bps.2_Silent_p.S345S|SKIL_uc003fgv.3_Silent_p.S365S|SKIL_uc003fgw.3_Silent_p.S365S	NM_005414	NP_005405	P12757	SKIL_HUMAN	Homo sapiens SKI-like oncogene (SKIL), transcript variant 1, mRNA.	365					cell cycle arrest|negative regulation of cell differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of axonogenesis|protein heterotrimerization|protein homotrimerization|regulation of apoptosis|response to antibiotic|response to growth factor stimulus|skeletal muscle tissue development	PML body|cytoplasm	SMAD binding|chromatin binding|nucleotide binding|protein complex binding|protein domain specific binding|transcription corepressor activity|transcription repressor activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	25	all_cancers(22;7.13e-23)|all_epithelial(15;9.95e-28)|all_lung(20;1.23e-16)|Lung NSC(18;5.15e-16)|Ovarian(172;0.000337)|Breast(254;0.137)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)			GAAATCAATCCAAGGCAAGTT	0.289000														272			11		7.93312e-07	1.45819e-05	0.000219431	1	0
EPS8L1	54869	broad.mit.edu	37	19	55597560	55597560	+	Splice_Site	SNP	G	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr19:55597560G>A	uc002qis.4	+	16	1754	c.1650_splice	c.e16+1	p.L550_splice	EPS8L1_uc010ess.1_Splice_Site_p.L564_splice|EPS8L1_uc010yfr.2_Splice_Site_p.L486_splice|EPS8L1_uc002qiu.3_Splice_Site_p.L423_splice|EPS8L1_uc002qiv.3_Splice_Site_p.L228_splice|EPS8L1_uc002qiw.3_Splice_Site_p.L329_splice	NM_133180	NP_573441	Q8TE68	ES8L1_HUMAN	Homo sapiens EPS8-like 1 (EPS8L1), transcript variant 1, mRNA.	550	Pro-rich.					cytoplasm				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|prostate(1)	12			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		CCCGCAGCCTGGTGAGCCAGC	0.652000														55			4		0	0	3.59834e-05	0	0
PDIA3P	171423	broad.mit.edu	37	1	146650720	146650720	+	Missense_Mutation	SNP	C	G	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:146650720C>G	uc001epg.1	+	0	1291	c.1028C>G	c.(1027-1029)tCg>tGg	p.S343W						Homo sapiens protein disulfide isomerase family A, member 3 pseudogene (PDIA3P), non-coding RNA.																		GAGGATTTCTCGCGTGATGGG	0.468000														214			7		0	0	0.000673444	0	0
VWF	7450	broad.mit.edu	37	12	6090951	6090952	+	Splice_Site	DNP	CC	TT	TT			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr12:6090951_6090952CC>TT	uc001qnn.1	-	42	7537	c.7287_splice	c.e42+1	p.K2429_splice	VWF_uc010set.1_Intron	NM_000552	NP_000543	P04275	VWF_HUMAN	Homo sapiens von Willebrand factor (VWF), mRNA.	2429	VWFC 2.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	Weibel-Palade body|endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein N-terminus binding|protein homodimerization activity			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	GCAGTCCTTACCTTGTCGGGAA	0.465000														82			9		0	0	6.4e-05	0	0
GABRG2	2566	broad.mit.edu	37	5	161576278	161576278	+	Silent	SNP	C	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr5:161576278C>A	uc010jjc.3	+	8	1565	c.1207C>A	c.(1207-1209)Cgg>Agg	p.R403R	GABRG2_uc003lyy.4_Silent_p.R363R|GABRG2_uc003lyz.4_Silent_p.R363R|GABRG2_uc011dej.2_Silent_p.R268R	NM_198903	NP_944493	P18507	GBRG2_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, gamma 2 (GABRG2), transcript variant 3, mRNA.	363					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|protein binding			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)		TGTCAGCAACCGGAAACCAAG	0.378000														77			8		9.31168e-06	0.000162005	0.000151284	1	0
KIF21B	23046	broad.mit.edu	37	1	200969622	200969622	+	Silent	SNP	C	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:200969622C>A	uc001gvs.2	-	10	1898	c.1581G>T	c.(1579-1581)ggG>ggT	p.G527G	KIF21B_uc009wzl.2_Silent_p.G527G|KIF21B_uc001gvr.2_Silent_p.G527G|KIF21B_uc010ppn.2_Silent_p.G527G	NM_001252100	NP_001239029	O75037	KI21B_HUMAN	Homo sapiens kinesin family member 21B (KIF21B), transcript variant 1, mRNA.	527					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						CAGGGCTGCCCCCGAAGGCCG	0.672000														86			7		8.12818e-05	0.00127893	8.12818e-05	1	0
KHDRBS2	202559	broad.mit.edu	37	6	62688029	62688029	+	Missense_Mutation	SNP	C	G	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr6:62688029C>G	uc003peg.2	-	3	672	c.425G>C	c.(424-426)gGg>gCg	p.G142A		NM_152688	NP_689901	Q5VWX1	KHDR2_HUMAN	Homo sapiens KH domain containing, RNA binding, signal transduction associated 2 (KHDRBS2), mRNA.	142					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	SH3 domain binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1)	49				BRCA - Breast invasive adenocarcinoma(397;0.149)		ATAAGCTTCCCCAGGTGGAGC	0.388000														87			4		0	0	8.12818e-05	0	0
PIGB	9488	broad.mit.edu	37	15	55613524	55613524	+	Missense_Mutation	SNP	C	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr15:55613524C>A	uc002act.3	+	2	669	c.353C>A	c.(352-354)cCc>cAc	p.P118H	HP06981_uc021smt.1_5'Flank|PIGB_uc010ugg.2_Intron	NM_004855	NP_004846	Q92521	PIGB_HUMAN	Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class B (PIGB), mRNA.	118					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	integral to membrane|intrinsic to endoplasmic reticulum membrane	glycolipid mannosyltransferase activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	11				all cancers(107;0.0255)		TACACTTATCCCTTAATCTTT	0.323000														71			7		0.000442599	0.00580232	0.000442599	1	0
PDGFRB	5159	broad.mit.edu	37	5	149497307	149497307	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr5:149497307G>A	uc003lro.3	-	21	3480	c.3011C>T	c.(3010-3012)aCc>aTc	p.T1004I	PDGFRB_uc010jhd.3_Missense_Mutation_p.T843I	NM_002609	NP_002600	P09619	PGFRB_HUMAN	Homo sapiens platelet-derived growth factor receptor, beta polypeptide (PDGFRB), mRNA.	1004					aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	GACGGAGCTGGTGTCCAGGGG	0.617000			T	"""ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"""	"""MPD, AML, CMML, CML"""									79			11		0	0	0.000673444	0	0
FAM60A	58516	broad.mit.edu	37	12	31448247	31448247	+	Missense_Mutation	SNP	C	G	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr12:31448247C>G	uc001rkc.3	-	1	466	c.224G>C	c.(223-225)gGa>gCa	p.G75A	FAM60A_uc010sjz.2_Missense_Mutation_p.G50A|FAM60A_uc001rkd.3_Missense_Mutation_p.G50A|FAM60A_uc010ska.2_Missense_Mutation_p.G50A|FAM60A_uc001rke.3_Missense_Mutation_p.G50A|FAM60A_uc010skb.2_Intron	NM_021238	NP_067061	Q9NP50	FA60A_HUMAN	Homo sapiens family with sequence similarity 60, member A (FAM60A), transcript variant 2, mRNA.	50										large_intestine(1)|lung(2)	3	all_cancers(9;5.22e-13)|all_epithelial(9;4e-13)|all_lung(12;1.2e-11)|Lung NSC(12;2.17e-09)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0207)|Lung SC(12;0.0592)|Esophageal squamous(101;0.162)					GCAGATGTCTCCTGAACGAGT	0.378000														96			5		0	0	0.000602214	0	0
AFF2	2334	broad.mit.edu	37	X	147743486	147743486	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chrX:147743486G>A	uc004fcp.3	+	2	717	c.238G>A	c.(238-240)Gaa>Aaa	p.E80K	AFF2_uc004fco.3_Missense_Mutation_p.E76K|AFF2_uc004fcq.3_Missense_Mutation_p.E76K|AFF2_uc004fcr.3_Missense_Mutation_p.E76K|AFF2_uc011mxb.2_Missense_Mutation_p.E80K|AFF2_uc004fcs.3_Missense_Mutation_p.E76K	NM_002025	NP_002016	P51816	AFF2_HUMAN	Homo sapiens AF4/FMR2 family, member 2 (AFF2), transcript variant 1, mRNA.	80					RNA splicing|brain development|mRNA processing|regulation of RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					AAACTATGATGAAATGAAGAA	0.403000														234			31		0	0	0.000339439	0	0
PKP2	5318	broad.mit.edu	37	12	32949100	32949100	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr12:32949100C>T	uc001rlj.4	-	11	2547	c.2432G>A	c.(2431-2433)cGc>cAc	p.R811H	PKP2_uc001rlk.4_Missense_Mutation_p.R767H|PKP2_uc010skj.2_Missense_Mutation_p.R764H	NM_004572	NP_004563	Q99959	PKP2_HUMAN	Homo sapiens plakophilin 2 (PKP2), transcript variant 2b, mRNA.	811					cell-cell adhesion	desmosome|integral to membrane|nucleus	binding			NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					TAGAAGGTCGCGTGCATTCTG	0.493000														90			15		0	0	0.000566183	0	0
HECW2	57520	broad.mit.edu	37	2	197171332	197171332	+	Silent	SNP	G	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr2:197171332G>A	uc002utm.1	-	12	2877	c.2694C>T	c.(2692-2694)ttC>ttT	p.F898F	HECW2_uc002utl.1_Silent_p.F542F	NM_020760	NP_065811	Q9P2P5	HECW2_HUMAN	Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 (HECW2), mRNA.	898	Interaction with TP73.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						TCTCCCGTCGGAAATCTAGAT	0.483000														43			11		0	0	6.40141e-05	0	0
SUN5	140732	broad.mit.edu	37	20	31575518	31575518	+	Missense_Mutation	SNP	C	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr20:31575518C>A	uc002wyi.3	-	9	770	c.677G>T	c.(676-678)tGg>tTg	p.W226L		NM_080675	NP_542406	Q8TC36	SUN5_HUMAN	Homo sapiens Sad1 and UNC84 domain containing 5 (SUN5), mRNA.	226	SUN.				spermatogenesis					endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	25						GATCCAGTTCCAGTAGGAGTG	0.612000														17			4		3.59834e-05	0.000594959	3.59834e-05	1	0
GYPA	2993	broad.mit.edu	37	4	145038021	145038021	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr4:145038021G>A	uc003ijo.4	-	4	459	c.343C>T	c.(343-345)Cgc>Tgc	p.R115C	GYPA_uc003ijn.2_Intron|GYPA_uc011cia.2_Non-coding_Transcript|GYPA_uc011cib.2_Missense_Mutation_p.R82C|GYPA_uc003ijp.4_Missense_Mutation_p.R83C|GYPA_uc010ioq.3_Missense_Mutation_p.R102C|GYPA_uc010ior.3_Missense_Mutation_p.R50C|GYPA_uc010ios.1_Non-coding_Transcript	NM_002099	NP_002090	P02724	GLPA_HUMAN	Homo sapiens glycophorin A (MNS blood group) (GYPA), mRNA.	115					interspecies interaction between organisms	membrane fraction	receptor activity			central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	10	all_hematologic(180;0.15)					ATCAGTCGGCGAATACCGTAA	0.368000														133			8		0	0	0.000673444	0	0
HTR3B	9177	broad.mit.edu	37	11	113802502	113802502	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr11:113802502C>T	uc001pok.3	+	3	419	c.281C>T	c.(280-282)tCc>tTc	p.S94F	HTR3B_uc001pol.3_Missense_Mutation_p.S83F	NM_006028	NP_006019	O95264	5HT3B_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 3B (HTR3B), mRNA.	94					synaptic transmission	integral to plasma membrane|postsynaptic membrane	serotonin receptor activity|serotonin-activated cation-selective channel activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(11)	20		all_cancers(61;6.81e-18)|all_epithelial(67;6.67e-11)|all_hematologic(158;4.67e-05)|Melanoma(852;0.000316)|Acute lymphoblastic leukemia(157;0.000976)|Breast(348;0.0101)|Prostate(24;0.0154)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.04e-06)|Epithelial(105;1.98e-05)|all cancers(92;0.000201)|OV - Ovarian serous cystadenocarcinoma(223;0.151)		GAATTTTTATCCTGGAACTCC	0.413000														74			15		0	0	0.000566183	0	0
FPR3	2359	broad.mit.edu	37	19	52327550	52327550	+	Missense_Mutation	SNP	G	C	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr19:52327550G>C	uc002pxt.1	+	1	733	c.549G>C	c.(547-549)tgG>tgC	p.W183C	FPR3_uc021uyq.1_Missense_Mutation_p.W183C	NM_002030	NP_002021	P25089	FPR3_HUMAN	Homo sapiens formyl peptide receptor 3 (FPR3), mRNA.	183					cellular component movement|chemotaxis	integral to membrane|plasma membrane	N-formyl peptide receptor activity			NS(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)	35						TTGCATTCTGGGGTGACACTG	0.428000														109			4		0	0	3.59834e-05	0	0
ANKRD36C	400986	broad.mit.edu	37	2	96521777	96521777	+	Missense_Mutation	SNP	T	C	C	rs77768218		TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr2:96521777T>C	uc002suz.1	-	30	2790	c.1313A>G	c.(1312-1314)cAt>cGt	p.H438R						SubName: Full=Uncharacterized protein;									p.H662R(6)|p.H1411R(3)		breast(1)|endometrium(8)|kidney(5)|lung(4)	18						AAGGTCTTCATGCTTTCTTTT	0.383000														23			5		0	0	8.12818e-05	0	0
NCAPG2	54892	broad.mit.edu	37	7	158447921	158447921	+	Silent	SNP	G	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr7:158447921G>T	uc011kwe.1	-	20	2680	c.2535C>A	c.(2533-2535)tcC>tcA	p.S845S	NCAPG2_uc010lqu.1_Silent_p.S637S|NCAPG2_uc003wnx.1_Silent_p.S845S|NCAPG2_uc003wnv.1_Silent_p.S845S|NCAPG2_uc003wnw.1_Non-coding_Transcript|NCAPG2_uc011kwc.1_Silent_p.S346S|NCAPG2_uc011kwd.1_Silent_p.S288S	NM_017760	NP_060230	Q86XI2	CNDG2_HUMAN	Homo sapiens non-SMC condensin II complex, subunit G2 (NCAPG2), mRNA.	845					cell division|chromosome condensation|mitosis	nucleus	methylated histone residue binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	39	Ovarian(565;0.152)	all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18)		CTTCCAACATGGACAAATACA	0.378000														219			10		0.000308642	0.00430437	0.000308642	1	0
MFSD6	54842	broad.mit.edu	37	2	191364932	191364932	+	Silent	SNP	G	C	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr2:191364932G>C	uc002urz.2	+	7	2688	c.2364G>C	c.(2362-2364)gcG>gcC	p.A788A	MFSD6_uc010zge.1_Silent_p.A250A	NM_017694	NP_060164	Q6ZSS7	MFSD6_HUMAN	Homo sapiens major facilitator superfamily domain containing 6 (MFSD6), mRNA.	788					transmembrane transport	integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(3)|stomach(1)	23						AGCTGGCCGCGGGAGGACACT	0.652000														32			4		0	0	3.59834e-05	0	0
PARP6	56965	broad.mit.edu	37	15	72554019	72554019	+	Missense_Mutation	SNP	C	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr15:72554019C>A	uc002auc.3	-	7	884	c.425G>T	c.(424-426)tGg>tTg	p.W142L	PARP6_uc002aua.3_Missense_Mutation_p.W7L|PARP6_uc002aub.3_Non-coding_Transcript|PARP6_uc002aud.4_Non-coding_Transcript|PARP6_uc002auf.1_Missense_Mutation_p.W142L	NM_020214	NP_064599	Q2NL67	PARP6_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 6 (PARP6), mRNA.	142							NAD+ ADP-ribosyltransferase activity			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(8)|skin(1)|urinary_tract(1)	18						CAGATGTTTCCATTGTTGGGA	0.463000														245			12		0.000422831	0.00580232	0.000422831	1	0
CHGB	1114	broad.mit.edu	37	20	5904518	5904518	+	Silent	SNP	C	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr20:5904518C>T	uc002wmg.3	+	3	2034	c.1728C>T	c.(1726-1728)ttC>ttT	p.F576F	CHGB_uc010zqz.2_Silent_p.F259F	NM_001819	NP_001810	P05060	SCG1_HUMAN	Homo sapiens chromogranin B (secretogranin 1) (CHGB), mRNA.	576						extracellular region	hormone activity			breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						AAAAGCCCTTCTCTGAGGATG	0.498000														74			11		0	0	0.000673444	0	0
OR4N4	283694	broad.mit.edu	37	15	22383003	22383003	+	Silent	SNP	C	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr15:22383003C>T	uc001yuc.1	+	6	1512	c.531C>T	c.(529-531)ttC>ttT	p.F177F	abParts_uc001yuj.2_Intron|OR4N4_uc001yub.1_Intron|OR4N4_uc010tzv.2_Silent_p.F177F	NM_001005241	NP_001005241	Q8N0Y3	OR4N4_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily N, member 4 (OR4N4), mRNA.	177					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		TGGACAACTTCTTCTGTGATG	0.522000														251			17		0	0	0.000132079	0	0
TXNDC12	51060	broad.mit.edu	37	1	52492996	52492996	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:52492996G>A	uc001cti.3	-	3	515	c.236C>T	c.(235-237)tCt>tTt	p.S79F		NM_015913	NP_056997	O95831	AIFM1_HUMAN	Homo sapiens thioredoxin domain containing 12 (endoplasmic reticulum) (TXNDC12), mRNA.	0					DNA damage response, signal transduction resulting in induction of apoptosis|DNA fragmentation involved in apoptotic nuclear change|activation of caspase activity|apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis	cytosol|mitochondrial inner membrane|mitochondrial intermembrane space|nucleus|perinuclear region of cytoplasm	DNA binding|electron carrier activity|flavin adenine dinucleotide binding|oxidoreductase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	7						AATTTCCGTAGATTCTGCAAA	0.343000														104			17		0	0	0.000566183	0	0
OR51B6	390058	broad.mit.edu	37	11	5373043	5373043	+	Silent	SNP	C	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr11:5373043C>T	uc010qzb.2	+	0	306	c.306C>T	c.(304-306)atC>atT	p.I102I	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Intron	NM_001004750	NP_001004750	Q9H340	O51B6_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily B, member 6 (OR51B6), mRNA.	102					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	21		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCTATTTTATCCATACTCTTT	0.483000														82			14		0	0	0.000566183	0	0
CRLS1	54675	broad.mit.edu	37	20	6012710	6012710	+	Missense_Mutation	SNP	C	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr20:6012710C>A	uc002wmn.4	+	4	867	c.713C>A	c.(712-714)cCa>cAa	p.P238Q	CRLS1_uc010gbq.3_Non-coding_Transcript|CRLS1_uc010gbr.3_Missense_Mutation_p.P139Q	NM_019095	NP_061968	Q9UJA2	CRLS1_HUMAN	Homo sapiens cardiolipin synthase 1 (CRLS1), transcript variant 1, mRNA.	238					phospholipid biosynthetic process	integral to membrane|mitochondrial inner membrane	phosphotransferase activity, for other substituted phosphate groups			lung(3)|ovary(1)	4						AGGTTAAAACCAACATTCATC	0.328000														281			10		2.17888e-05	0.000371685	0.000442599	1	0
WHAMMP3	339005	broad.mit.edu	37	15	23205193	23205193	+	RNA	SNP	A	G	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr15:23205193A>G	uc001yvg.3	-	1		c.602T>C			WHAMMP3_uc010ayc.3_Non-coding_Transcript|WHAMMP3_uc010ayd.3_Non-coding_Transcript|WHAMMP3_uc010aye.1_Non-coding_Transcript					Homo sapiens WAS protein homolog associated with actin, golgi membranes and microtubules pseudogene 3 (WHAMMP3), non-coding RNA.																		GGTGTCCTTGAATAACCTAGA	0.398000														20			4		0	0	0.00024832	0	0
SORT1	6272	broad.mit.edu	37	1	109859562	109859562	+	Silent	SNP	C	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:109859562C>A	uc001dxm.2	-	16	2209	c.2160G>T	c.(2158-2160)ggG>ggT	p.G720G	SORT1_uc010ovi.2_Silent_p.G583G	NM_002959	NP_002950	Q99523	SORT_HUMAN	Homo sapiens sortilin 1 (SORT1), transcript variant 1, mRNA.	720	Interactions with LRPAP1 and NGFB.				Golgi to endosome transport|endocytosis|endosome to lysosome transport|endosome transport via multivesicular body sorting pathway|glucose import|induction of apoptosis by extracellular signals|myotube differentiation|negative regulation of apoptosis|negative regulation of lipoprotein lipase activity|neuropeptide signaling pathway|ossification|plasma membrane to endosome transport|regulation of gene expression|response to insulin stimulus|vesicle organization	Golgi cisterna membrane|cell surface|coated pit|early endosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|microsome|nuclear membrane|perinuclear region of cytoplasm|plasma membrane	enzyme binding|nerve growth factor binding|nerve growth factor receptor activity|neurotensin receptor activity, non-G-protein coupled	p.G720E(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|prostate(1)|skin(1)	26		all_epithelial(167;4.69e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0529)|Colorectal(144;0.142)|Epithelial(280;0.145)|Kidney(133;0.169)|all cancers(265;0.184)		GGCATTTGTCCCCTGGAATTT	0.403000														270			11		0.000422831	0.00580232	0.000422831	1	0
ATP2A2	488	broad.mit.edu	37	12	110780051	110780051	+	Missense_Mutation	SNP	G	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr12:110780051G>T	uc001tqk.4	+	14	2679	c.2116G>T	c.(2116-2118)Gat>Tat	p.D706Y	ATP2A2_uc001tql.4_Missense_Mutation_p.D706Y|ATP2A2_uc021rdt.1_Missense_Mutation_p.D554Y	NM_170665	NP_733765	P16615	AT2A2_HUMAN	Homo sapiens ATPase, Ca++ transporting, cardiac muscle, slow twitch 2 (ATP2A2), transcript variant b, mRNA.	706					ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport	integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|S100 alpha binding|calcium-transporting ATPase activity|protein C-terminus binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	38						TGGCGTGAACGATGCTCCTGC	0.547000														97			6		0.000442599	0.00580232	0.000442599	1	0
TMEM150C	441027	broad.mit.edu	37	4	83411274	83411274	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr4:83411274G>A	uc011ccj.1	-	6	686	c.571C>T	c.(571-573)Cgg>Tgg	p.R191W	TMEM150C_uc003hmy.1_Missense_Mutation_p.R161W	NM_001080506	NP_001073975	B9EJG8	T150C_HUMAN	Homo sapiens transmembrane protein 150C (TMEM150C), mRNA.	161						integral to membrane				ovary(1)	1						CCAACTCTCCGTCCTTCATTC	0.468000														100			7		0	0	8.12818e-05	0	0
HSD17B13	345275	broad.mit.edu	37	4	88238266	88238266	+	Missense_Mutation	SNP	A	G	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr4:88238266A>G	uc003hqo.2	-	2	491	c.428T>C	c.(427-429)gTc>gCc	p.V143A	HSD17B13_uc010ikk.2_Missense_Mutation_p.V107A	NM_178135	NP_835236	Q7Z5P4	DHB13_HUMAN	Homo sapiens hydroxysteroid (17-beta) dehydrogenase 13 (HSD17B13), transcript variant A, mRNA.	143						extracellular region	binding|oxidoreductase activity			endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1)	8		Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248)		OV - Ovarian serous cystadenocarcinoma(123;0.000308)		TAGGATGTTGACCTCAAATGT	0.413000														108			4		0	0	0.00024832	0	0
PCYOX1L	78991	broad.mit.edu	37	5	148747771	148747771	+	Missense_Mutation	SNP	G	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr5:148747771G>T	uc003lqk.2	+	5	1101	c.1039G>T	c.(1039-1041)Ggt>Tgt	p.G347C	PCYOX1L_uc003lql.2_Missense_Mutation_p.G330C|PCYOX1L_uc010jgz.2_Missense_Mutation_p.G271C|PCYOX1L_uc003lqm.2_Missense_Mutation_p.G229C|PCYOX1L_uc003lqn.2_Missense_Mutation_p.G257C	NM_024028	NP_076933	Q8NBM8	PCYXL_HUMAN	Homo sapiens prenylcysteine oxidase 1 like (PCYOX1L), mRNA.	347					prenylcysteine catabolic process	extracellular region	oxidoreductase activity, acting on a sulfur group of donors, oxygen as acceptor			breast(2)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTCCTACTTCGGTTTCCCAGA	0.547000											OREG0016912	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		184			8		0.000673444	0.00850193	0.000673444	1	0
ITPR1	3708	broad.mit.edu	37	3	4732948	4732948	+	Missense_Mutation	SNP	C	G	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr3:4732948C>G	uc003bqc.3	+	30	4254	c.3904C>G	c.(3904-3906)Cag>Gag	p.Q1302E	ITPR1_uc021wsi.1_Missense_Mutation_p.Q1308E|ITPR1_uc021wsj.1_Missense_Mutation_p.Q1293E|ITPR1_uc011asu.2_Intron	NM_001168272	NP_001161744	Q14643	ITPR1_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 1 (ITPR1), transcript variant 3, mRNA.	1317					activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		TCGGAATGTCCAGTATATAAA	0.403000														41			3		0	0	0.00024832	0	0
TSEN2	80746	broad.mit.edu	37	3	12571368	12571368	+	Missense_Mutation	SNP	C	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr3:12571368C>A	uc003bxc.3	+	9	1631	c.1244C>A	c.(1243-1245)tCt>tAt	p.S415Y	TSEN2_uc003bwz.3_Missense_Mutation_p.S356Y|TSEN2_uc003bxa.3_Missense_Mutation_p.S389Y|TSEN2_uc011auq.1_Missense_Mutation_p.S389Y|TSEN2_uc003bxb.3_Missense_Mutation_p.S415Y|TSEN2_uc011aur.1_Missense_Mutation_p.S324Y	NM_025265	NP_079541	Q8NCE0	SEN2_HUMAN	Homo sapiens tRNA splicing endonuclease 2 homolog (S. cerevisiae) (TSEN2), transcript variant 1, mRNA.	415					mRNA processing|tRNA splicing, via endonucleolytic cleavage and ligation	cytoplasm|nucleolus|tRNA-intron endonuclease complex	nucleic acid binding|tRNA-intron endonuclease activity			central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)	19						GTTAATGTCTCTAAGGTAACA	0.403000														462			16		5.01169e-05	0.000818011	0.000566183	1	0
KIF27	55582	broad.mit.edu	37	9	86503438	86503438	+	Missense_Mutation	SNP	C	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr9:86503438C>A	uc004ana.3	-	7	2193	c.2049G>T	c.(2047-2049)caG>caT	p.Q683H	KIF27_uc010mpw.3_Missense_Mutation_p.Q683H|KIF27_uc010mpx.3_Missense_Mutation_p.Q683H	NM_017576	NP_060046	Q86VH2	KIF27_HUMAN	Homo sapiens kinesin family member 27 (KIF27), mRNA.	683					cilium assembly|microtubule-based movement	cilium|cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						GTGTTTCATCCTGAGTATCAC	0.333000														65			6		0.000274275	0.00385584	0.000274275	1	0
SMPD1	6609	broad.mit.edu	37	11	6414574	6414574	+	Nonsense_Mutation	SNP	G	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr11:6414574G>A	uc001mcw.3	+	2	1405	c.1220G>A	c.(1219-1221)tGg>tAg	p.W407*	SMPD1_uc021qcz.1_Nonsense_Mutation_p.W407*|SMPD1_uc001mcv.2_Non-coding_Transcript|SMPD1_uc009yew.3_Nonsense_Mutation_p.W406*|SMPD1_uc021qda.1_Non-coding_Transcript|SMPD1_uc009yex.3_Intron	NM_000543	NP_000534	P17405	ASM_HUMAN	Homo sapiens sphingomyelin phosphodiesterase 1, acid lysosomal (SMPD1), transcript variant 1, mRNA.	405					cell death|ceramide biosynthetic process|negative regulation of MAP kinase activity|nervous system development|positive regulation of protein dephosphorylation|signal transduction|sphingomyelin catabolic process|termination of signal transduction	lysosome	hydrolase activity, acting on glycosyl bonds|sphingomyelin phosphodiesterase activity			breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(3)	23		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;4.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)	Desipramine(DB01151)	CAGCTCCAGTGGCTGGTGGGG	0.572000														49			4		0	0	3.59834e-05	0	0
DHX30	22907	broad.mit.edu	37	3	47870539	47870539	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr3:47870539C>T	uc003cru.3	+	5	707	c.281C>T	c.(280-282)cCc>cTc	p.P94L	DHX30_uc003crs.2_Missense_Mutation_p.P55L|DHX30_uc003crt.3_Missense_Mutation_p.P55L|DHX30_uc010hjr.1_Missense_Mutation_p.P122L	NM_138615	NP_619520	Q7L2E3	DHX30_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 30 (DHX30), transcript variant 1, mRNA.	94	DRBM.					mitochondrial nucleoid	ATP binding|ATP-dependent helicase activity|RNA binding|protein binding	p.P94L(2)		endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		ATAAAATGGCCCAAGAGCGTG	0.498000														54			4		0	0	3.59834e-05	0	0
ENTPD8	377841	broad.mit.edu	37	9	140332516	140332516	+	Silent	SNP	C	G	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr9:140332516C>G	uc004cmw.3	-	2	331	c.147G>C	c.(145-147)gcG>gcC	p.A49A	ENTPD8_uc004cmx.3_Silent_p.A49A|ENTPD8_uc004cmy.2_Silent_p.A49A	NM_001033113	NP_001028285	Q5MY95	ENTP8_HUMAN	Homo sapiens ectonucleoside triphosphate diphosphohydrolase 8 (ENTPD8), transcript variant 1, mRNA.	49						integral to membrane|plasma membrane	ATP binding			biliary_tract(1)|lung(4)|prostate(1)|skin(1)	7	all_cancers(76;0.0926)			OV - Ovarian serous cystadenocarcinoma(145;0.000224)|Epithelial(140;0.000898)		GGGAGGAGCCCGCATCAAACA	0.647000														33			3		0	0	0.000602214	0	0
KCNH7	90134	broad.mit.edu	37	2	163302627	163302627	+	Silent	SNP	G	C	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr2:163302627G>C	uc002uch.2	-	6	1684	c.1455C>G	c.(1453-1455)ccC>ccG	p.P485P	KCNH7_uc002uci.3_Silent_p.P478P	NM_033272	NP_150375	Q9NS40	KCNH7_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 7 (KCNH7), transcript variant 1, mRNA.	485					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	CTATTTTGGCGGGATCACTTA	0.358000														51			3		0	0	0.00024832	0	0
ZNF410	57862	broad.mit.edu	37	14	74364869	74364869	+	Missense_Mutation	SNP	A	G	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr14:74364869A>G	uc010arz.2	+	5	985	c.535A>G	c.(535-537)Att>Gtt	p.I179V	ZNF410_uc001xoy.2_Non-coding_Transcript|ZNF410_uc010ary.2_Non-coding_Transcript|ZNF410_uc010tuf.2_Non-coding_Transcript|ZNF410_uc010tui.2_Non-coding_Transcript|ZNF410_uc001xpa.2_5'UTR|ZNF410_uc001xoz.2_Missense_Mutation_p.I162V|ZNF410_uc001xpb.2_Missense_Mutation_p.I162V|ZNF410_uc010tug.2_5'UTR|ZNF410_uc010tuh.2_Missense_Mutation_p.I89V|ZNF410_uc010tuj.2_5'UTR	NM_001242924	NP_001229853	Q86VK4	ZN410_HUMAN	Homo sapiens zinc finger protein 410 (ZNF410), transcript variant 1, mRNA.	162					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(234;0.00369)		AGACAGTAGCATTCCATGGTT	0.498000														102			9		0	0	0.000274275	0	0
CDK15	65061	broad.mit.edu	37	2	202677264	202677264	+	Missense_Mutation	SNP	C	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr2:202677264C>A	uc002uyt.2	+	3	476	c.427C>A	c.(427-429)Cca>Aca	p.P143T	CDK15_uc010ftm.3_Missense_Mutation_p.P8T|CDK15_uc002uys.2_Missense_Mutation_p.P92T|CDK15_uc010ftn.1_Missense_Mutation_p.P92T|CDK15_uc010fto.1_Missense_Mutation_p.P143T	NM_139158	NP_631897	Q96Q40	CDK15_HUMAN	Homo sapiens cyclin-dependent kinase 15 (CDK15), mRNA.	143	Protein kinase.						ATP binding|cyclin-dependent protein kinase activity|metal ion binding|protein binding	p.P92T(1)		breast(3)|endometrium(2)|kidney(5)|large_intestine(1)|lung(14)|ovary(1)	26					Adenosine triphosphate(DB00171)	GGAAGGAGTCCCATTTACAGC	0.408000														127			8		0.000442599	0.00580232	0.000442599	1	0
MCU	90550	broad.mit.edu	37	10	74645554	74645554	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr10:74645554C>T	uc001jtc.3	+	7	1051	c.1030C>T	c.(1030-1032)Ctc>Ttc	p.L344F	MCU_uc009xqr.3_Missense_Mutation_p.L323F|MCU_uc001jtd.3_Missense_Mutation_p.L295F	NM_138357	NP_612366	Q8NE86	MCU_HUMAN	Homo sapiens mitochondrial calcium uniporter (MCU), nuclear gene encoding mitochondrial protein, mRNA.	344					elevation of mitochondrial calcium ion concentration|mitochondrial calcium ion transport|protein complex oligomerization	integral to membrane|mitochondrial inner membrane	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(1)	14						ACATCTGCCTCTCCGACAAAT	0.408000														80			5		0	0	8.12818e-05	0	0
RAD50	10111	broad.mit.edu	37	5	131953890	131953890	+	Missense_Mutation	SNP	G	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr5:131953890G>T	uc003kxi.3	+	20	3694	c.3293G>T	c.(3292-3294)cGg>cTg	p.R1098L	RAD50_uc003kxh.3_Missense_Mutation_p.R959L	NM_005732	NP_005723	Q92878	RAD50_HUMAN	Homo sapiens RAD50 homolog (S. cerevisiae) (RAD50), mRNA.	1098					DNA duplex unwinding|double-strand break repair via homologous recombination|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|telomere maintenance via telomerase	Mre11 complex|nuclear chromosome, telomeric region|nucleoplasm	ATP binding|DNA binding|nuclease activity|protein binding, bridging|zinc ion binding	p.R1098Q(1)|p.R959Q(1)		breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		all_cancers(142;0.0368)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CCACAATTTCGGGATGCTGAG	0.328000								Homologous recombination						227			10		6.40141e-05	0.00103518	6.40141e-05	1	0
MYF5	4617	broad.mit.edu	37	12	81110921	81110921	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr12:81110921G>A	uc001szg.2	+	0	214	c.79G>A	c.(79-81)Gaa>Aaa	p.E27K		NM_005593	NP_005584	P13349	MYF5_HUMAN	Homo sapiens myogenic factor 5 (MYF5), mRNA.	27					muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1)	30						CCCCGAGGGTGAATTTGGGGA	0.622000														52			11		0	0	6.40141e-05	0	0
BZRAP1	9256	broad.mit.edu	37	17	56388969	56388969	+	Missense_Mutation	SNP	C	G	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr17:56388969C>G	uc002ivx.4	-	17	3915	c.3044G>C	c.(3043-3045)cGg>cCg	p.R1015P	BZRAP1_uc010dcs.3_Missense_Mutation_p.R955P|BZRAP1_uc010wnt.2_Missense_Mutation_p.R1015P	NM_004758	NP_004749	O95153	RIMB1_HUMAN	Homo sapiens benzodiazapine receptor (peripheral) associated protein 1 (BZRAP1), transcript variant 1, mRNA.	1015	Fibronectin type-III 3.					mitochondrion	benzodiazepine receptor binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GCCTGTGACCCGGACACCGTT	0.597000														59			4		0	0	0.000157383	0	0
GLIPR1L2	144321	broad.mit.edu	37	12	75807385	75807385	+	Missense_Mutation	SNP	G	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr12:75807385G>T	uc001sxr.1	+	2	496	c.488G>T	c.(487-489)tGg>tTg	p.W163L	GLIPR1L2_uc001sxp.1_Missense_Mutation_p.W163L|GLIPR1L2_uc001sxq.1_Missense_Mutation_p.W56L	NM_152436	NP_689649	Q4G1C9	GRPL2_HUMAN	Homo sapiens GLI pathogenesis-related 1 like 2 (GLIPR1L2), mRNA.	163						integral to membrane		p.V162F(1)		kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	16						TAGCTTGTTTGGGACCACTCT	0.294000														140			9		0.000442599	0.00580232	0.000442599	1	0
CREBBP	1387	broad.mit.edu	37	16	3843402	3843402	+	Missense_Mutation	SNP	C	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr16:3843402C>A	uc002cvv.3	-	3	1405	c.1201G>T	c.(1201-1203)Ggg>Tgg	p.G401W	CREBBP_uc002cvw.3_Missense_Mutation_p.G401W	NM_004380	NP_004371	Q92793	CBP_HUMAN	Homo sapiens CREB binding protein (CREBBP), transcript variant 1, mRNA.	401	Interaction with SRCAP.				N-terminal peptidyl-lysine acetylation|cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	MyoD binding|histone acetyltransferase activity|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		CAGGCTTTCCCAGCCTGACAA	0.483000			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome							157			8		3.86212e-05	0.000634077	0.000673444	1	0
MRPL4	51073	broad.mit.edu	37	19	10367417	10367417	+	Silent	SNP	C	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr19:10367417C>A	uc002mnm.3	+	5	515	c.361C>A	c.(361-363)Cgg>Agg	p.R121R	MRPL4_uc002mnn.3_Silent_p.R121R|MRPL4_uc002mno.3_Silent_p.R121R	NM_146387	NP_666499	Q9BYD3	RM04_HUMAN	Homo sapiens mitochondrial ribosomal protein L4 (MRPL4), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	121					translation	mitochondrion|ribosome	structural constituent of ribosome			breast(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	11		Renal(1328;0.0112)	OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;1.99e-06)|all cancers(31;4.81e-06)	Lung(535;0.00705)		AGCCGAGGTGCGGGGCGGTGG	0.672000														123			7		0.000442599	0.00580232	0.000442599	1	0
DUOX1	53905	broad.mit.edu	37	15	45426393	45426393	+	Nonsense_Mutation	SNP	C	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr15:45426393C>T	uc001zus.1	+	4	539	c.193C>T	c.(193-195)Cag>Tag	p.Q65*	DUOX1_uc001zut.1_Nonsense_Mutation_p.Q65*|DUOX1_uc010bee.1_5'UTR	NM_017434	NP_787954	Q9NRD9	DUOX1_HUMAN	Homo sapiens dual oxidase 1 (DUOX1), transcript variant 1, mRNA.	65	Peroxidase-like; mediates peroxidase activity.				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	NAD(P)H oxidase activity|NADP binding|calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|peroxidase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		TGGCGTGTACCAGCCCTTGGG	0.617000														44			7		0	0	8.12818e-05	0	0
DHX8	1659	broad.mit.edu	37	17	41590868	41590868	+	Missense_Mutation	SNP	C	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr17:41590868C>A	uc002idu.1	+	16	2713	c.2641C>A	c.(2641-2643)Cag>Aag	p.Q881K	DHX8_uc010wif.1_Missense_Mutation_p.Q790K|DHX8_uc010wig.2_Missense_Mutation_p.Q881K	NM_004941	NP_004932	Q14562	DHX8_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 8 (DHX8), mRNA.	881	Helicase C-terminal.					catalytic step 2 spliceosome	ATP binding|ATP-dependent RNA helicase activity|RNA binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.08)		GCCTATTTCTCAGGTATGACG	0.388000														99			6		0.000442599	0.00580232	0.000442599	1	0
DYNC2H1	79659	broad.mit.edu	37	11	102988372	102988372	+	Missense_Mutation	SNP	G	C	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr11:102988372G>C	uc001phn.1	+	5	923	c.779G>C	c.(778-780)gGa>gCa	p.G260A	DYNC2H1_uc009yxe.1_Missense_Mutation_p.G260A|DYNC2H1_uc001pho.2_Missense_Mutation_p.G260A	NM_001080463	NP_001073932	Q8NCM8	DYHC2_HUMAN	Homo sapiens dynein, cytoplasmic 2, heavy chain 1 (DYNC2H1), transcript variant 2, mRNA.	260	Stem (By similarity).				Golgi organization|cell projection organization|microtubule-based movement|multicellular organismal development	Golgi apparatus|cilium axoneme|dynein complex|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		GGTTCATTTGGAAGGTTTGTT	0.289000														78			8		0	0	0.000157383	0	0
CHRD	8646	broad.mit.edu	37	3	184099524	184099524	+	Missense_Mutation	SNP	G	C	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr3:184099524G>C	uc003fov.3	+	4	778	c.532G>C	c.(532-534)Ggg>Cgg	p.G178R	CHRD_uc003fow.3_5'UTR|CHRD_uc003fox.3_Missense_Mutation_p.G178R|CHRD_uc003foy.3_5'UTR|CHRD_uc010hyc.3_5'UTR|CHRD_uc011brr.2_5'Flank	NM_003741	NP_003732	Q9H2X0	CHRD_HUMAN	Homo sapiens chordin (CHRD), mRNA.	178	CHRD 1.				BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development	extracellular space	cytokine binding			NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GCTGCTGACAGGGCCGAGGTC	0.642000														21			3		0	0	0.00024832	0	0
DENND2A	27147	broad.mit.edu	37	7	140227128	140227128	+	Missense_Mutation	SNP	G	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr7:140227128G>T	uc010lnk.3	-	14	3015	c.2495C>A	c.(2494-2496)cCg>cAg	p.P832Q	DENND2A_uc011kre.2_Non-coding_Transcript|DENND2A_uc010lnj.3_Missense_Mutation_p.P832Q|DENND2A_uc003vvw.3_Missense_Mutation_p.P832Q	NM_015689	NP_056504	Q9ULE3	DEN2A_HUMAN	Homo sapiens DENN/MADD domain containing 2A (DENND2A), mRNA.	832	DENN.									breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49	Melanoma(164;0.00956)					CTCTTCCAGCGGCAGCTCCCT	0.677000														5			4		0.00024832	0.00365247	0.00024832	1	0
SULT1A1	6817	broad.mit.edu	37	16	28620093	28620093	+	Silent	SNP	C	G	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr16:28620093C>G	uc002dqn.3	-	4	949	c.357G>C	c.(355-357)ctG>ctC	p.L119L	NPIPL1_uc010vct.2_Intron|SULT1A1_uc002dqj.3_Silent_p.L28L|SULT1A1_uc002dqi.3_Silent_p.L28L|SULT1A1_uc002dqk.3_Silent_p.L28L|SULT1A1_uc002dql.3_Silent_p.L28L|SULT1A1_uc002dqm.3_Intron|SULT1A1_uc002dqp.3_Silent_p.L28L	NM_177534	NP_803878	P50225	ST1A1_HUMAN	Homo sapiens sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1 (SULT1A1), transcript variant 4, mRNA.	28					3'-phosphoadenosine 5'-phosphosulfate metabolic process|catecholamine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|xenobiotic metabolic process	cytosol	aryl sulfotransferase activity|flavonol 3-sulfotransferase activity			endometrium(2)|kidney(7)|large_intestine(2)|lung(2)|ovary(1)|stomach(2)	16						GCAGGGGCCCCAGTGCCTCTG	0.647000														42			4		0	0	0.00024832	0	0
CEP85	64793	broad.mit.edu	37	1	26597549	26597549	+	Missense_Mutation	SNP	C	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:26597549C>A	uc001bls.1	+	9	1825	c.1694C>A	c.(1693-1695)cCa>cAa	p.P565Q	CEP85_uc001blr.3_Missense_Mutation_p.P565Q|CEP85_uc010ofa.1_Missense_Mutation_p.P514Q|CEP85_uc001blt.1_5'UTR	NM_022778	NP_073615	Q6P2H3	CEP85_HUMAN	Homo sapiens centrosomal protein 85kDa (CEP85), mRNA.	565						centrosome|nucleolus|spindle pole				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(11)|skin(2)	25						GGAGAAGGTCCAGAAGTGGAA	0.507000														100			7		0.000673444	0.00850193	0.000673444	1	0
C5orf15	56951	broad.mit.edu	37	5	133304218	133304218	+	Missense_Mutation	SNP	C	G	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr5:133304218C>G	uc003kyo.3	-	0	189	c.58G>C	c.(58-60)Ggg>Cgg	p.G20R		NM_020199	NP_064584	Q8NC54	KCT2_HUMAN	Homo sapiens chromosome 5 open reading frame 15 (C5orf15), mRNA.	20						integral to membrane				endometrium(2)|large_intestine(1)|lung(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00806)|Kidney(363;0.02)			ATGGCCGACCCGGGCAGCAGT	0.672000														18			4		0	0	3.59834e-05	0	0
UNC13C	440279	broad.mit.edu	37	15	54306001	54306001	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr15:54306001G>A	uc021smr.1	+	0	901	c.901G>A	c.(901-903)Gaa>Aaa	p.E301K	UNC13C_uc021sms.1_Missense_Mutation_p.E301K	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	Homo sapiens unc-13 homolog C (C. elegans) (UNC13C), mRNA.	301					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		GTCTCGGAGGGAAACTAGAGA	0.428000														103			21		0	0	0.000375601	0	0
SLC36A4	120103	broad.mit.edu	37	11	92895883	92895883	+	Silent	SNP	G	C	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr11:92895883G>C	uc001pdn.3	-	8	1123	c.1026C>G	c.(1024-1026)ccC>ccG	p.P342P	SLC36A4_uc001pdm.3_Silent_p.P207P	NM_152313	NP_689526	Q6YBV0	S36A4_HUMAN	Homo sapiens solute carrier family 36 (proton/amino acid symporter), member 4 (SLC36A4), mRNA.	342					L-alanine transport|proline transport|tryptophan transport	integral to membrane	symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	25		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				ATACATCTTGGGGAAGATTTA	0.313000														208			7		0	0	0.000157383	0	0
LAMA1	284217	broad.mit.edu	37	18	6973127	6973127	+	Missense_Mutation	SNP	C	G	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr18:6973127C>G	uc002knm.3	-	46	6797	c.6703G>C	c.(6703-6705)Ggg>Cgg	p.G2235R	LAMA1_uc010wzj.2_Missense_Mutation_p.G1711R	NM_005559	NP_005550	P25391	LAMA1_HUMAN	Homo sapiens laminin, alpha 1 (LAMA1), mRNA.	2235	Laminin G-like 1.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TTAGCTGTCCCAGGGGATTTA	0.383000														84			5		0	0	0.000602214	0	0
SDHAP2	727956	broad.mit.edu	37	3	195400799	195400799	+	Missense_Mutation	SNP	G	A	A	rs7635172	by1000genomes	TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr3:195400799G>A	uc003fuw.3	+	8	1289	c.95G>A	c.(94-96)tGt>tAt	p.C32Y	SDHAP2_uc011btb.1_Silent_p.L179L|SDHAP2_uc011btc.1_Non-coding_Transcript|SDHAP2_uc003fuv.3_Non-coding_Transcript					Homo sapiens succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 2 (SDHAP2), non-coding RNA.																		CAAACTCGCTGTTGGACCTGG	0.597000														35			5		0	0	0.000274275	0	0
TARDBP	23435	broad.mit.edu	37	1	11073977	11073977	+	Missense_Mutation	SNP	G	T	T	rs35714982		TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:11073977G>T	uc001art.3	+	1	327	c.193G>T	c.(193-195)Gat>Tat	p.D65Y	TARDBP_uc010oap.2_Missense_Mutation_p.Q3H	NM_007375	NP_031401	Q13148	TADBP_HUMAN	Homo sapiens TAR DNA binding protein (TARDBP), mRNA.	65					3'-UTR-mediated mRNA stabilization|RNA splicing|cell death|mRNA processing|negative regulation by host of viral transcription|transcription from RNA polymerase II promoter	nucleus	double-stranded DNA binding|mRNA 3'-UTR binding|nucleotide binding|protein binding|sequence-specific DNA binding transcription factor activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)	11	Ovarian(185;0.249)	Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0578)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.37e-07)|COAD - Colon adenocarcinoma(227;7.38e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000299)|Kidney(185;0.000754)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)		GCATGCCCCAGATGCTGGCTG	0.488000														142			8		0.000442599	0.00580232	0.000442599	1	0
GPR98	84059	broad.mit.edu	37	5	90077254	90077254	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr5:90077254G>A	uc003kju.3	+	64	13186	c.13090G>A	c.(13090-13092)Gat>Aat	p.D4364N	GPR98_uc003kjt.3_Missense_Mutation_p.D2070N|GPR98_uc003kjw.3_Missense_Mutation_p.D25N	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	4364					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		AAGAGGGTATGATTTTACCAT	0.303000														42			7		0	0	8.12818e-05	0	0
SMS	6611	broad.mit.edu	37	X	21995222	21995222	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chrX:21995222C>T	uc004dag.3	+	4	601	c.373C>T	c.(373-375)Ccc>Tcc	p.P125S	SMS_uc011mjq.2_Missense_Mutation_p.P29S	NM_004595	NP_004586	P52788	SPSY_HUMAN	Homo sapiens spermine synthase (SMS), mRNA.	125					methionine metabolic process|spermine biosynthetic process	cytosol	spermidine synthase activity|spermine synthase activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(2)	14					Spermine(DB00127)	CAGATACTGGCCCACCGCCGA	0.438000														115			6		0	0	0.000157383	0	0
AKAP9	10142	broad.mit.edu	37	7	91660889	91660889	+	Missense_Mutation	SNP	C	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr7:91660889C>A	uc003ulg.3	+	15	4534	c.4309C>A	c.(4309-4311)Caa>Aaa	p.Q1437K	AKAP9_uc003ule.2_Missense_Mutation_p.Q1449K|AKAP9_uc003ulf.3_Missense_Mutation_p.Q1437K|AKAP9_uc003uli.3_Missense_Mutation_p.Q1062K	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	Homo sapiens A kinase (PRKA) anchor protein (yotiao) 9 (AKAP9), transcript variant 2, mRNA.	1449					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	Golgi apparatus|centrosome|cytosol	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			AAAACAATACCAAGAACAATT	0.303000			T	BRAF	papillary thyroid									259			12		0.000219431	0.00323436	0.000219431	1	0
PAQR3	152559	broad.mit.edu	37	4	79860262	79860262	+	Silent	SNP	G	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr4:79860262G>A	uc003hlp.1	-	0	321	c.117C>T	c.(115-117)tcC>tcT	p.S39S	PAQR3_uc003hlm.3_Non-coding_Transcript|PAQR3_uc003hln.3_Non-coding_Transcript|PAQR3_uc003hlq.1_5'UTR	NM_001040202	NP_001035292	Q6TCH7	PAQR3_HUMAN	Homo sapiens progestin and adipoQ receptor family member III (PAQR3), mRNA.	39						Golgi membrane|integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	8						TGTCCTTGAGGGACCCGGGGA	0.637000														76			10		0	0	6.40141e-05	0	0
IRS4	8471	broad.mit.edu	37	X	107975913	107975913	+	Missense_Mutation	SNP	C	G	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chrX:107975913C>G	uc004eoc.2	-	0	3695	c.3662G>C	c.(3661-3663)cGg>cCg	p.R1221P		NM_003604	NP_003595	O14654	IRS4_HUMAN	Homo sapiens insulin receptor substrate 4 (IRS4), mRNA.	1221						plasma membrane	SH3/SH2 adaptor activity|insulin receptor binding|signal transducer activity	p.R1221W(1)		NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						TCTTGGCACCCGGCGACTGCG	0.592000														211			7		0	0	0.000151284	0	0
RBM19	9904	broad.mit.edu	37	12	114377953	114377953	+	Nonsense_Mutation	SNP	G	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr12:114377953G>A	uc009zwi.2	-	14	1894	c.1750C>T	c.(1750-1752)Cga>Tga	p.R584*	RBM19_uc001tvn.4_Nonsense_Mutation_p.R584*|RBM19_uc001tvm.3_Nonsense_Mutation_p.R584*	NM_001146699	NP_057280	Q9Y4C8	RBM19_HUMAN	Homo sapiens RNA binding motif protein 19 (RBM19), transcript variant 1, mRNA.	584					multicellular organismal development|positive regulation of embryonic development	chromosome|cytoplasm|nucleolus|nucleoplasm	RNA binding|nucleotide binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4)	55	Medulloblastoma(191;0.163)|all_neural(191;0.178)					GTCTTGCTTCGCTCTGCTGCA	0.632000														96			6		0	0	3.59834e-05	0	0
BAI1	575	broad.mit.edu	37	8	143562943	143562943	+	Silent	SNP	G	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr8:143562943G>A	uc003ywm.3	+	9	2184	c.2001G>A	c.(1999-2001)caG>caA	p.Q667Q		NM_001702	NP_001693	O14514	BAI1_HUMAN	Homo sapiens brain-specific angiogenesis inhibitor 1 (BAI1), mRNA.	667					axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					AGGTCATCCAGACACTGGTGG	0.627000														18			4		0	0	0.000602214	0	0
WDR3	10885	broad.mit.edu	37	1	118501574	118501574	+	Missense_Mutation	SNP	C	G	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:118501574C>G	uc010oxe.1	+	25	2690	c.2624C>G	c.(2623-2625)cCa>cGa	p.P875R	WDR3_uc001ehi.2_Intron|SPAG17_uc001ehk.2_Intron	NM_006784	NP_006775	Q9UNX4	WDR3_HUMAN	Homo sapiens WD repeat domain 3 (WDR3), mRNA.	875						nuclear membrane|nucleolus				breast(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(9)|liver(2)|lung(22)|prostate(2)|upper_aerodigestive_tract(1)	49	Esophageal squamous(2;0.162)	all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244)		OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185)		ATGCTTGTGCCAGTGATAGAA	0.383000														101			7		0	0	6.40141e-05	0	0
CCDC111	201973	broad.mit.edu	37	4	185606819	185606819	+	Missense_Mutation	SNP	C	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr4:185606819C>A	uc003iwk.2	+	10	1709	c.1276C>A	c.(1276-1278)Cat>Aat	p.H426N	CCDC111_uc003iwj.2_Missense_Mutation_p.H425N|CCDC111_uc003iwm.2_Missense_Mutation_p.H297N|CCDC111_uc003iwn.2_Missense_Mutation_p.H166N	NM_152683	NP_689896	Q96LW4	CC111_HUMAN	Homo sapiens coiled-coil domain containing 111 (CCDC111), mRNA.	426					DNA replication, synthesis of RNA primer		DNA primase activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(2)	16		all_lung(41;9.65e-12)|Lung NSC(41;1.64e-11)|Colorectal(36;0.00531)|Hepatocellular(41;0.00932)|Renal(120;0.0246)|Prostate(90;0.0283)|all_hematologic(60;0.0749)|all_neural(102;0.131)		all cancers(43;5.84e-27)|Epithelial(43;2.2e-23)|OV - Ovarian serous cystadenocarcinoma(60;4.28e-11)|STAD - Stomach adenocarcinoma(60;2.66e-05)|GBM - Glioblastoma multiforme(59;3.03e-05)|Colorectal(24;7.57e-05)|BRCA - Breast invasive adenocarcinoma(30;0.000249)|COAD - Colon adenocarcinoma(29;0.000502)|LUSC - Lung squamous cell carcinoma(40;0.00995)|READ - Rectum adenocarcinoma(43;0.173)		TGGAAGAGCCCATAAGAGTAA	0.269000														161			10		6.40141e-05	0.00103518	6.40141e-05	1	0
RTTN	25914	broad.mit.edu	37	18	67872519	67872519	+	Missense_Mutation	SNP	G	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr18:67872519G>T	uc002lkp.2	-	1	132	c.64C>A	c.(64-66)Ctc>Atc	p.L22I	RTTN_uc010xfb.1_5'UTR|RTTN_uc002lkq.1_Missense_Mutation_p.L22I	NM_173630	NP_775901	Q86VV8	RTTN_HUMAN	Homo sapiens rotatin (RTTN), mRNA.	22							binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				ATACTCTTGAGAGCGCGCTCC	0.443000														207			11		2.31682e-05	0.000392345	0.000308642	1	0
PCDH17	27253	broad.mit.edu	37	13	58207007	58207007	+	Silent	SNP	C	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr13:58207007C>T	uc001vhq.1	+	0	1219	c.327C>T	c.(325-327)ttC>ttT	p.F109F	PCDH17_uc010aec.1_Silent_p.F109F	NM_001040429	NP_001035519	O14917	PCD17_HUMAN	Homo sapiens protocadherin 17 (PCDH17), mRNA.	109	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		TCGAGGTGTTCGCCAACGACA	0.592000														54			7		0	0	8.12818e-05	0	0
CCDC108	255101	broad.mit.edu	37	2	219900219	219900219	+	Silent	SNP	G	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr2:219900219G>T	uc002vjl.1	-	4	609	c.525C>A	c.(523-525)ctC>ctA	p.L175L	CCDC108_uc010zkp.1_Silent_p.L164L|CCDC108_uc010zkq.1_Silent_p.L110L|CCDC108_uc002vjn.3_Silent_p.L110L	NM_194302	NP_919278	Q6ZU64	CC108_HUMAN	Homo sapiens coiled-coil domain containing 108 (CCDC108), transcript variant 1, mRNA.	175						integral to membrane	structural molecule activity	p.L175F(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TCATCTTCTGGAGTTTCAAGG	0.488000														72			7		0.000442599	0.00580232	0.000442599	1	0
CUL4B	8450	broad.mit.edu	37	X	119675486	119675486	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chrX:119675486G>A	uc004esw.3	-	11	1905	c.1468C>T	c.(1468-1470)Ctt>Ttt	p.L490F	CUL4B_uc010nqq.3_Missense_Mutation_p.L189F|CUL4B_uc004esv.3_Missense_Mutation_p.L472F	NM_003588	NP_003579	Q13620	CUL4B_HUMAN	Homo sapiens cullin 4B (CUL4B), transcript variant 1, mRNA.	490					DNA repair|cell cycle|ubiquitin-dependent protein catabolic process	Cul4B-RING ubiquitin ligase complex|nucleus	protein binding|ubiquitin protein ligase binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						TGCTGCAAAAGAACCTGAACT	0.368000														251			42		0	0	0.000589545	0	0
ITGAX	3687	broad.mit.edu	37	16	31374667	31374667	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr16:31374667G>A	uc002ebt.3	+	13	1749	c.1682G>A	c.(1681-1683)gGa>gAa	p.G561E	ITGAX_uc002ebu.1_Missense_Mutation_p.G561E|ITGAX_uc010vfk.1_Missense_Mutation_p.G211E	NM_000887	NP_000878	P20702	ITAX_HUMAN	Homo sapiens integrin, alpha X (complement component 3 receptor 4 subunit) (ITGAX), mRNA.	561					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						GGAGTCTTGGGACCCAGCATC	0.592000														77			8		0	0	0.000274275	0	0
MEAF6	64769	broad.mit.edu	37	1	37967583	37967583	+	Missense_Mutation	SNP	C	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:37967583C>A	uc001cbe.1	-	4	372	c.355G>T	c.(355-357)Ggg>Tgg	p.G119W	MEAF6_uc001cbd.1_Missense_Mutation_p.G97W|MEAF6_uc009vvd.1_Non-coding_Transcript|MEAF6_uc001cbg.1_Missense_Mutation_p.G119W|MEAF6_uc001cbh.1_Missense_Mutation_p.G119W	NM_022756	NP_073593	Q9HAF1	EAF6_HUMAN	Homo sapiens MYST/Esa1-associated factor 6 (MEAF6), mRNA.	119					histone H2A acetylation|histone H3-K14 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|NuA4 histone acetyltransferase complex|nucleolus	protein binding			autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(3)	7						CTTTCCGTCCCACTTCCTGGC	0.483000														128			9		0.000442599	0.00580232	0.000442599	1	0
abParts	0	broad.mit.edu	37	14	106641665	106641665	+	RNA	SNP	G	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr14:106641665G>A	uc021ser.1	-	1493		c.29720C>T								Parts of antibodies, mostly variable regions.																		CTCTGCCCTGGAGCTTCTGTG	0.552000														124			17		0	0	0.000422831	0	0
NUCKS1	64710	broad.mit.edu	37	1	205687595	205687595	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:205687595G>A	uc001hdb.3	-	6	816	c.545C>T	c.(544-546)cCa>cTa	p.P182L		NM_022731	NP_073568	Q9H1E3	NUCKS_HUMAN	Homo sapiens nuclear casein kinase and cyclin-dependent kinase substrate 1 (NUCKS1), mRNA.	182	Lys-rich.					nucleus				endometrium(4)|large_intestine(1)|lung(9)	14	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0194)			GCCTTTCACTGGACTTGGCGT	0.413000														149			38		0	0	0.000191422	0	0
MUC3A	4584	broad.mit.edu	37	7	100552491	100552491	+	Silent	SNP	C	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr7:100552491C>T	uc003uxl.1	+	0	1742	c.942C>T	c.(940-942)ttC>ttT	p.F314F	MUC3A_uc003uxk.1_Non-coding_Transcript					SubName: Full=Intestinal mucin; Flags: Fragment;											breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						ACACAGTTTTCACAAGTACTC	0.522000														238			12		0	0	6.40141e-05	0	0
FBN3	84467	broad.mit.edu	37	19	8156383	8156383	+	Silent	SNP	G	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr19:8156383G>A	uc002mjf.3	-	46	6014	c.5997C>T	c.(5995-5997)ggC>ggT	p.G1999G	FBN3_uc002mje.3_5'Flank	NM_032447	NP_115823	Q75N90	FBN3_HUMAN	Homo sapiens fibrillin 3 (FBN3), mRNA.	1999	EGF-like 32; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						AGAGGACAAAGCCAGGTGGGC	0.592000														71			16		0	0	9.7654e-05	0	0
PDIA3	2923	broad.mit.edu	37	15	44053650	44053650	+	Silent	SNP	G	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr15:44053650G>A	uc001zsu.3	+	3	541	c.393G>A	c.(391-393)caG>caA	p.Q131Q	PDIA3_uc010bdp.3_Silent_p.Q111Q|PDIA3_uc010ued.2_5'UTR	NM_005313	NP_005304	P30101	PDIA3_HUMAN	Homo sapiens protein disulfide isomerase family A, member 3 (PDIA3), mRNA.	131	Thioredoxin 1.				cell redox homeostasis|glycerol ether metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding|protein import into nucleus|protein retention in ER lumen|signal transduction	endoplasmic reticulum lumen|melanosome	cysteine-type endopeptidase activity|electron carrier activity|phospholipase C activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(2)|skin(1)	17		all_cancers(109;2.61e-15)|all_epithelial(112;1.12e-12)|Lung NSC(122;2.17e-08)|all_lung(180;2.45e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.48e-07)		TGAAGAAGCAGGCAGGACCAG	0.343000														185			44		0	0	0.000781405	0	0
LHX8	431707	broad.mit.edu	37	1	75609546	75609546	+	Silent	SNP	G	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:75609546G>A	uc001dgo.3	+	6	1291	c.627G>A	c.(625-627)gtG>gtA	p.V209V	LHX8_uc021oou.1_Silent_p.V209V|LHX8_uc001dgq.3_Silent_p.V148V	NM_001001933	NP_001001933	Q68G74	LHX8_HUMAN	Homo sapiens LIM homeobox 8 (LHX8), transcript variant 1, mRNA.	209						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(18)|ovary(3)|urinary_tract(1)	30						GGATTAGTGTGGAAGGTGCCC	0.408000														47			9		0	0	0.000442599	0	0
AFF4	27125	broad.mit.edu	37	5	132228022	132228022	+	Missense_Mutation	SNP	G	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr5:132228022G>T	uc003kyd.3	-	12	2879	c.2471C>A	c.(2470-2472)cCa>cAa	p.P824Q	AFF4_uc011cxk.2_Missense_Mutation_p.P502Q|AFF4_uc003kye.1_Missense_Mutation_p.P824Q	NM_014423	NP_055238	Q9UHB7	AFF4_HUMAN	Homo sapiens AF4/FMR2 family, member 4 (AFF4), mRNA.	824					transcription from RNA polymerase II promoter	mitochondrion|nucleolus	protein binding|sequence-specific DNA binding transcription factor activity		SEPT8/AFF4(2)	breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(7)|lung(11)|ovary(3)|pancreas(1)|prostate(3)|skin(2)	43		all_cancers(142;0.145)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CTCTGTTTTTGGATCTTTTGA	0.463000														175			9		0.000673444	0.00850193	0.000673444	1	0
ARRB2	409	broad.mit.edu	37	17	4620555	4620555	+	Missense_Mutation	SNP	C	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr17:4620555C>A	uc010vsg.2	+	5	692	c.464C>A	c.(463-465)cCa>cAa	p.P155Q	ARRB2_uc002fyj.3_Missense_Mutation_p.P134Q|ARRB2_uc002fyk.3_Missense_Mutation_p.P119Q|ARRB2_uc002fyl.3_Missense_Mutation_p.P134Q|ARRB2_uc002fym.3_Missense_Mutation_p.P119Q|ARRB2_uc002fyn.3_5'UTR	NM_004313	NP_004304	P32121	ARRB2_HUMAN	Homo sapiens arrestin, beta 2 (ARRB2), transcript variant 1, mRNA.	134					G-protein coupled receptor internalization|cell chemotaxis|desensitization of G-protein coupled receptor protein signaling pathway by arrestin|negative regulation of NF-kappaB transcription factor activity|negative regulation of natural killer cell mediated cytotoxicity|negative regulation of protein ubiquitination|platelet activation|positive regulation of ERK1 and ERK2 cascade|proteasomal ubiquitin-dependent protein catabolic process|protein transport|protein ubiquitination|transcription from RNA polymerase II promoter|transforming growth factor beta receptor signaling pathway	coated pit|cytoplasmic membrane-bounded vesicle|cytosol|nucleus|plasma membrane	angiotensin receptor binding|ubiquitin protein ligase binding			large_intestine(1)|liver(2)|lung(3)|prostate(1)	7						CAGCCAGGCCCAGAGGATACA	0.587000														82			6		0.000673444	0.00850193	0.000673444	1	0
SMC5	23137	broad.mit.edu	37	9	72873997	72873997	+	Missense_Mutation	SNP	G	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr9:72873997G>T	uc004ahr.2	+	0	120	c.3G>T	c.(1-3)atG>atT	p.M1I	LOC100507299_uc004ahq.1_5'Flank|LOC100507299_uc022bhz.1_5'Flank	NM_015110	NP_055925	Q8IY18	SMC5_HUMAN	Homo sapiens structural maintenance of chromosomes 5 (SMC5), mRNA.	1					DNA recombination|DNA repair	chromosome|nucleus	ATP binding			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(4)	35						AAGCCAGGATGGCGACTCCGA	0.662000														15			4		3.59834e-05	0.000594959	3.59834e-05	1	0
TMPRSS15	5651	broad.mit.edu	37	21	19666726	19666726	+	Missense_Mutation	SNP	G	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr21:19666726G>T	uc002ykw.3	-	20	2378	c.2347C>A	c.(2347-2349)Cca>Aca	p.P783T		NM_002772	NP_002763	P98073	ENTK_HUMAN	Homo sapiens transmembrane protease, serine 15 (TMPRSS15), mRNA.	783					proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity	p.P783S(2)		NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						ACAATCTTTGGGGTGATGTCT	0.458000														229			12		0.000219431	0.00323436	0.000219431	1	0
NOXRED1	122945	broad.mit.edu	37	14	77873143	77873143	+	Missense_Mutation	SNP	C	G	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr14:77873143C>G	uc001xtr.3	-	3	773	c.606G>C	c.(604-606)tgG>tgC	p.W202C	NOXRED1_uc010tvi.2_Missense_Mutation_p.W202C	NM_001113475	NP_001106946	Q6NXP6	CN148_HUMAN	Homo sapiens NADP-dependent oxidoreductase domain containing 1 (NOXRED1), mRNA.	202					proline biosynthetic process		binding|pyrroline-5-carboxylate reductase activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	9						TATTGGCCCCCCAGACGCTGA	0.498000														27			5		0	0	0.000602214	0	0
TUBGCP3	10426	broad.mit.edu	37	13	113158471	113158471	+	Nonsense_Mutation	SNP	C	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr13:113158471C>A	uc001vse.1	-	18	2369	c.2182G>T	c.(2182-2184)Gaa>Taa	p.E728*	TUBGCP3_uc010tjq.1_Nonsense_Mutation_p.E718*|TUBGCP3_uc001vsf.3_Nonsense_Mutation_p.E728*	NM_006322	NP_006313	Q96CW5	GCP3_HUMAN	Homo sapiens tubulin, gamma complex associated protein 3 (TUBGCP3), mRNA.	728					G2/M transition of mitotic cell cycle|microtubule nucleation|single fertilization	centriole|cytosol|polar microtubule	gamma-tubulin binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|urinary_tract(1)	25	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)					CAAGAACATTCAAGCACCTGG	0.463000														115			7		0.000442599	0.00580232	0.000442599	1	0
GRM8	2918	broad.mit.edu	37	7	126882950	126882950	+	Silent	SNP	G	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr7:126882950G>A	uc003vlr.2	-	0	620	c.309C>T	c.(307-309)ctC>ctT	p.L103L	GRM8_uc003vls.2_Non-coding_Transcript|GRM8_uc011kof.1_Non-coding_Transcript|GRM8_uc003vlt.2_Silent_p.L103L|GRM8_uc010lkz.1_Non-coding_Transcript	NM_000845	NP_000836	O00222	GRM8_HUMAN	Homo sapiens glutamate receptor, metabotropic 8 (GRM8), transcript variant 1, mRNA.	103					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	AGCACGTGTCGAGGATGCGGA	0.478000										HNSCC(24;0.065)				44			6		0	0	3.59834e-05	0	0
DNAJC12	56521	broad.mit.edu	37	10	69565372	69565372	+	Missense_Mutation	SNP	C	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr10:69565372C>A	uc001jnb.3	-	3	639	c.471G>T	c.(469-471)aaG>aaT	p.K157N	U6_uc021prq.1_5'Flank	NM_021800	NP_068572	Q9UKB3	DJC12_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 12 (DNAJC12), transcript variant 1, mRNA.	157					protein folding		heat shock protein binding|unfolded protein binding			breast(2)|kidney(2)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	12						GGGAGACTGACTTCTCTAGGG	0.403000														230			10		2.27111e-07	4.29882e-06	0.00010058	1	0
HIF1A	3091	broad.mit.edu	37	14	62207343	62207343	+	Missense_Mutation	SNP	C	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr14:62207343C>A	uc001xfq.2	+	10	2061	c.1657C>A	c.(1657-1659)Cag>Aag	p.Q553K	HIF1A_uc001xfr.2_Missense_Mutation_p.Q553K|HIF1A_uc001xfs.2_Missense_Mutation_p.Q554K|HIF1A_uc021rua.1_Missense_Mutation_p.Q577K	NM_001530	NP_001521	Q16665	HIF1A_HUMAN	Homo sapiens hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor) (HIF1A), transcript variant 1, mRNA.	553	NTAD.|ODD.				cellular response to hypoxia|collagen metabolic process|connective tissue replacement involved in inflammatory response wound healing|elastin metabolic process|epithelial to mesenchymal transition|oxygen homeostasis|positive regulation of chemokine production|positive regulation of epithelial cell migration|positive regulation of hormone biosynthetic process|positive regulation of nitric-oxide synthase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation vascular endothelial growth factor production|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|regulation of transforming growth factor-beta2 production	cytoplasm|nucleolus|transcription factor complex	Hsp90 protein binding|histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding			breast(2)|endometrium(8)|kidney(6)|large_intestine(3)|lung(4)	23				OV - Ovarian serous cystadenocarcinoma(108;1.62e-09)|BRCA - Breast invasive adenocarcinoma(234;0.189)		ATTTTCTACTCAGGTATATGA	0.294000														176			10		0.000442599	0.00580232	0.000442599	1	0
C20orf152	140894	broad.mit.edu	37	20	34560590	34560590	+	Missense_Mutation	SNP	C	G	G	rs138466031		TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr20:34560590C>G	uc002xer.1	+	1	247	c.91C>G	c.(91-93)Cga>Gga	p.R31G	C20orf152_uc002xes.1_Missense_Mutation_p.R31G|C20orf152_uc010gfp.1_Non-coding_Transcript	NM_080834	NP_543024	Q96M20	CT152_HUMAN	Homo sapiens chromosome 20 open reading frame 152 (C20orf152), transcript variant 1, mRNA.	31										breast(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(1)	18	Breast(12;0.00631)					CATAATGATCCGAGTGTGTAA	0.458000														132			6		0	0	3.59834e-05	0	0
GBP3	2635	broad.mit.edu	37	1	89476603	89476603	+	Missense_Mutation	SNP	G	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:89476603G>T	uc001dmt.3	-	7	1551	c.1346C>A	c.(1345-1347)cCa>cAa	p.P449Q	GBP3_uc010oss.2_Missense_Mutation_p.P370Q|GBP3_uc001dmu.3_Missense_Mutation_p.P315Q|GBP3_uc001dmv.3_Intron|GBP3_uc021opp.1_Missense_Mutation_p.P422Q	NM_018284	NP_060754	Q9H0R5	GBP3_HUMAN	Homo sapiens guanylate binding protein 3 (GBP3), mRNA.	449						integral to membrane	GTP binding|GTPase activity			breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	26		Lung NSC(277;0.123)		all cancers(265;0.0103)|Epithelial(280;0.0293)		CCCCTTCCTTGGTTCCTCATA	0.448000														84			6		3.09899e-07	5.82643e-06	0.000274275	1	0
TTN	7273	broad.mit.edu	37	2	179639101	179639101	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr2:179639101C>T	uc021vsy.1	-	29	7115	c.6890G>A	c.(6889-6891)gGa>gAa	p.G2297E	TTN_uc021vsz.1_Missense_Mutation_p.G2251E|TTN_uc021vta.1_Missense_Mutation_p.G2251E|TTN_uc021vtb.1_Missense_Mutation_p.G2251E|TTN_uc002unb.2_Missense_Mutation_p.G2297E|AK123298_uc002unc.1_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	2297	Ig-like 12.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATACCATTTTCCTTCTATATT	0.393000														74			10		0	0	0.000442599	0	0
GABRB2	2561	broad.mit.edu	37	5	160886671	160886671	+	Missense_Mutation	SNP	C	T	T	rs78354289		TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr5:160886671C>T	uc003lys.1	-	4	635	c.417G>A	c.(415-417)atG>atA	p.M139I	GABRB2_uc011deh.1_Intron|GABRB2_uc003lyr.1_Missense_Mutation_p.M139I|GABRB2_uc003lyt.1_Missense_Mutation_p.M139I|GABRB2_uc021yhg.1_Missense_Mutation_p.M76I|GABRB2_uc011dei.1_Missense_Mutation_p.M139I	NM_021911	NP_068711	P47870	GBRB2_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, beta 2 (GABRB2), transcript variant 1, mRNA.	139					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	GCAGGCGAATCATGCGGTTCT	0.448000														50			9		0	0	0.00010058	0	0
SMC1B	27127	broad.mit.edu	37	22	45750932	45750932	+	Missense_Mutation	SNP	G	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr22:45750932G>T	uc003bgc.3	-	19	3077	c.3025C>A	c.(3025-3027)Cag>Aag	p.Q1009K	SMC1B_uc003bgd.3_Missense_Mutation_p.Q1009K	NM_148674	NP_683515	Q8NDV3	SMC1B_HUMAN	Homo sapiens structural maintenance of chromosomes 1B (SMC1B), mRNA.	1009					chromosome organization|meiosis	chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus	ATP binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		ATATCTTCCTGGGATGCTACT	0.453000														147			8		3.09899e-07	5.82643e-06	0.000274275	1	0
WDR76	79968	broad.mit.edu	37	15	44127344	44127344	+	Missense_Mutation	SNP	C	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr15:44127344C>A	uc001zti.2	+	2	667	c.548C>A	c.(547-549)tCt>tAt	p.S183Y	WDR76_uc021skg.1_Missense_Mutation_p.S119Y	NM_024908	NP_001161413	Q9H967	WDR76_HUMAN	Homo sapiens WD repeat domain 76 (WDR76), transcript variant 1, mRNA.	183										breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)	20		all_cancers(109;3.26e-11)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.61e-06)|all_lung(180;1.5e-05)|Melanoma(134;0.0417)		all cancers(107;3.78e-21)|GBM - Glioblastoma multiforme(94;5.04e-07)		CTTCAGTTGTCTGAGGTTTGT	0.453000														68			6		0.000157383	0.00233702	0.000157383	1	0
HCAR2	338442	broad.mit.edu	37	12	123187411	123187411	+	Silent	SNP	G	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr12:123187411G>A	uc001ucx.1	-	0	494	c.420C>T	c.(418-420)tcC>tcT	p.S140S	HCAR1_uc001ucw.1_Intron	NM_177551	NP_808219	Q8TDS4	HCAR2_HUMAN	Homo sapiens hydroxycarboxylic acid receptor 2 (HCAR2), mRNA.	140					negative regulation of lipid catabolic process|neutrophil apoptosis|positive regulation of adiponectin secretion|positive regulation of neutrophil apoptosis	integral to membrane|plasma membrane	nicotinic acid receptor activity|purinergic nucleotide receptor activity, G-protein coupled			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	15					Mepenzolate(DB04843)|Niacin(DB00627)	CTGTCCGATTGGAGATCTTGT	0.567000														83			27		0	0	0.000147802	0	0
IMPG1	3617	broad.mit.edu	37	6	76660673	76660673	+	Missense_Mutation	SNP	G	C	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr6:76660673G>C	uc003pik.1	-	12	1560	c.1430C>G	c.(1429-1431)cCa>cGa	p.P477R		NM_001563	NP_001554	Q17R60	IMPG1_HUMAN	Homo sapiens interphotoreceptor matrix proteoglycan 1 (IMPG1), mRNA.	477					visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity			breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				GGTGAGCCCTGGTACTAGCAT	0.493000														54			4		0	0	3.59834e-05	0	0
OR5D16	390144	broad.mit.edu	37	11	55607046	55607046	+	Silent	SNP	C	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr11:55607046C>T	uc010rio.2	+	0	819	c.819C>T	c.(817-819)gtC>gtT	p.V273V		NM_001005496	NP_001005496	Q8NGK9	OR5DG_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily D, member 16 (OR5D16), mRNA.	273					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_epithelial(135;0.208)				GGCACACAGTCAAAGTGGCCT	0.478000														64			6		0	0	0.000157383	0	0
ATP2A2	488	broad.mit.edu	37	12	110780039	110780039	+	Missense_Mutation	SNP	G	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr12:110780039G>T	uc001tqk.4	+	14	2667	c.2104G>T	c.(2104-2106)Gat>Tat	p.D702Y	ATP2A2_uc001tql.4_Missense_Mutation_p.D702Y|ATP2A2_uc021rdt.1_Missense_Mutation_p.D550Y	NM_170665	NP_733765	P16615	AT2A2_HUMAN	Homo sapiens ATPase, Ca++ transporting, cardiac muscle, slow twitch 2 (ATP2A2), transcript variant b, mRNA.	702			D -> N (in DD; moderate form).		ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport	integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|S100 alpha binding|calcium-transporting ATPase activity|protein C-terminus binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	38						TCAGACTGGCGATGGCGTGAA	0.547000														94			6		7.48243e-07	1.38262e-05	0.000442599	1	0
XYLT1	64131	broad.mit.edu	37	16	17211812	17211812	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr16:17211812C>T	uc002dfa.3	-	10	2333	c.2248G>A	c.(2248-2250)Gag>Aag	p.E750K		NM_022166	NP_071449	Q86Y38	XYLT1_HUMAN	Homo sapiens xylosyltransferase I (XYLT1), mRNA.	750					glycosaminoglycan biosynthetic process	Golgi membrane|endoplasmic reticulum membrane|extracellular region|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity	p.E750*(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						AATAGCCTCTCCTTGGCATCC	0.572000														50			7		0	0	0.000274275	0	0
CYP11B1	1584	broad.mit.edu	37	8	143961094	143961094	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr8:143961094C>T	uc010mey.3	-	0	143	c.136G>A	c.(136-138)Ggc>Agc	p.G46S	CYP11B1_uc003yxi.3_Missense_Mutation_p.G46S|CYP11B1_uc003yxj.3_Missense_Mutation_p.G46S	NM_000497	NP_000488	P15538	C11B1_HUMAN	Homo sapiens cytochrome P450, family 11, subfamily B, polypeptide 1 (CYP11B1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	46					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process	mitochondrial inner membrane	electron carrier activity|steroid 11-beta-monooxygenase activity	p.G46S(2)		central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Mitotane(DB00648)	CACCTGTTGCCTGGACGCCGG	0.632000									Familial Hyperaldosteronism type I					83			7		0	0	0.000274275	0	0
GFOD2	81577	broad.mit.edu	37	16	67709429	67709429	+	Missense_Mutation	SNP	G	C	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr16:67709429G>C	uc002eub.3	-	2	1082	c.787C>G	c.(787-789)Cgg>Ggg	p.R263G	GFOD2_uc002euc.3_Missense_Mutation_p.R158G|GFOD2_uc002eua.1_Non-coding_Transcript	NM_030819	NP_110446	Q3B7J2	GFOD2_HUMAN	Homo sapiens glucose-fructose oxidoreductase domain containing 2 (GFOD2), transcript variant 1, mRNA.	263						proteinaceous extracellular matrix	binding|oxidoreductase activity			breast(2)|endometrium(1)|large_intestine(4)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	19		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0151)|Epithelial(162;0.0505)|all cancers(182;0.242)		TCGGCTCCCCGGGCGACGAGG	0.627000														60			5		0	0	0.000602214	0	0
MBD5	55777	broad.mit.edu	37	2	149226825	149226825	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr2:149226825C>T	uc002twm.4	+	8	2310	c.1313C>T	c.(1312-1314)cCa>cTa	p.P438L	MBD5_uc010zbs.2_Non-coding_Transcript|MBD5_uc002twn.1_5'Flank	NM_018328	NP_060798	Q9P267	MBD5_HUMAN	Homo sapiens methyl-CpG binding domain protein 5 (MBD5), mRNA.	438						chromosome|nucleus	DNA binding|chromatin binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		TCCCCTTCTCCAGTGACATCC	0.483000														34			5		0	0	8.12818e-05	0	0
C10orf81	79949	broad.mit.edu	37	10	115527231	115527231	+	Missense_Mutation	SNP	C	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr10:115527231C>A	uc001lat.2	+	3	896	c.334C>A	c.(334-336)Cac>Aac	p.H112N	C10orf81_uc009xyc.2_Missense_Mutation_p.H30N|C10orf81_uc001lar.2_Missense_Mutation_p.H118N|C10orf81_uc001las.2_Missense_Mutation_p.H30N	NM_182601	NP_872407	Q5SXH7	CJ081_HUMAN	Homo sapiens chromosome 10 open reading frame 81 (C10orf81), transcript variant 1, mRNA.	112	PH.									central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)	15		Colorectal(252;0.175)		Epithelial(162;0.0181)|all cancers(201;0.0204)		CCTCATTGGCCACGACAGGTG	0.383000														44			6		0.000157383	0.00233702	0.000157383	1	0
TJP3	27134	broad.mit.edu	37	19	3738585	3738585	+	Silent	SNP	G	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr19:3738585G>A	uc010xhv.2	+	10	1416	c.1416G>A	c.(1414-1416)cgG>cgA	p.R472R	TJP3_uc010xhs.2_Silent_p.R439R|TJP3_uc010xht.2_Silent_p.R403R|TJP3_uc010xhu.2_Silent_p.R448R|TJP3_uc010xhw.2_Silent_p.R458R	NM_014428	NP_055243	O95049	ZO3_HUMAN	Homo sapiens tight junction protein 3 (zona occludens 3) (TJP3), mRNA.	453						tight junction	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)		ACCTGACACGGGAGGAGGCAG	0.577000														127			15		0	0	0.000375601	0	0
CSNK1G3	1456	broad.mit.edu	37	5	122924176	122924176	+	Missense_Mutation	SNP	C	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr5:122924176C>A	uc003ktm.3	+	7	1534	c.815C>A	c.(814-816)cCa>cAa	p.P272Q	CSNK1G3_uc003ktl.3_Missense_Mutation_p.P272Q|CSNK1G3_uc003ktn.3_Missense_Mutation_p.P272Q|CSNK1G3_uc003kto.3_Missense_Mutation_p.P272Q|CSNK1G3_uc011cwr.2_Missense_Mutation_p.P197Q|CSNK1G3_uc011cws.2_Missense_Mutation_p.P159Q|CSNK1G3_uc010jda.3_Missense_Mutation_p.P272Q	NM_004384	NP_004375	Q9Y6M4	KC1G3_HUMAN	Homo sapiens casein kinase 1, gamma 3 (CSNK1G3), transcript variant 1, mRNA.	272	Protein kinase.				Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(1)	15		all_cancers(142;0.0156)|Prostate(80;0.0322)|Lung NSC(810;0.245)	KIRC - Kidney renal clear cell carcinoma(527;0.165)|Kidney(363;0.229)	OV - Ovarian serous cystadenocarcinoma(64;0.000121)|Epithelial(69;0.000227)|all cancers(49;0.00176)		CGGGCTACACCAATAGAAGTG	0.289000														108			7		1.12685e-05	0.000194597	0.000274275	1	0
GAPDHS	26330	broad.mit.edu	37	19	36035822	36035822	+	Silent	SNP	G	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr19:36035822G>T	uc002oaf.1	+	9	1184	c.1068G>T	c.(1066-1068)acG>acT	p.T356T	AX747325_uc002oag.3_Intron|AX747325_uc021usq.1_3'UTR|TMEM147_uc002oaj.2_5'Flank|TMEM147_uc002oai.2_5'Flank|TMEM147_uc021usr.1_5'Flank	NM_014364	NP_055179	O14556	G3PT_HUMAN	Homo sapiens glyceraldehyde-3-phosphate dehydrogenase, spermatogenic (GAPDHS), mRNA.	356					gluconeogenesis|glycolysis|positive regulation of glycolysis|sperm motility	cytosol	NAD binding|glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)	11	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		NADH(DB00157)	TCGTCTCTACGGACTTCCTCG	0.522000														74			5		5.18039e-06	9.16098e-05	0.000157383	1	0
KLRC2	3822	broad.mit.edu	37	12	10588543	10588543	+	Missense_Mutation	SNP	G	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr12:10588543G>T	uc001qyh.3	-	0	50	c.43C>A	c.(43-45)Cag>Aag	p.Q15K	KLRC2_uc010she.1_Missense_Mutation_p.Q15K|KLRC2_uc001qyk.2_Missense_Mutation_p.Q15K	NM_002261	NP_002252	P26717	NKG2C_HUMAN	Homo sapiens killer cell lectin-like receptor subfamily C, member 3 (KLRC3), transcript variant 1, mRNA.	15					cellular defense response	integral to plasma membrane	sugar binding|transmembrane receptor activity			kidney(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)	11						TTTGGGTCCTGGGCCAGACTC	0.428000														237			9		0.00010058	0.00157903	0.00010058	1	0
G2E3	55632	broad.mit.edu	37	14	31066625	31066625	+	Splice_Site	SNP	G	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr14:31066625G>T	uc001wqk.2	+	7	683	c.529_splice	c.e7-1	p.V177_splice	G2E3_uc010tpe.1_Splice_Site_p.V131_splice|G2E3_uc010tpf.1_Splice_Site_p.V131_splice	NM_017769	NP_060239	Q7L622	G2E3_HUMAN	Homo sapiens G2/M-phase specific E3 ubiquitin protein ligase (G2E3), mRNA.	177					apoptosis|multicellular organismal development|protein modification process	Golgi apparatus|nucleolus	acid-amino acid ligase activity|protein binding|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23						TTCCACTGTAGGTTCAAGCAA	0.294000														240			10		3.07112e-06	5.48644e-05	6.40141e-05	1	0
DPYSL5	56896	broad.mit.edu	37	2	27164821	27164822	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr2:27164821_27164822GG>TT	uc002rhu.4	+	9	1251_1252	c.1093_1094GG>TT	c.(1093-1095)gga>TTa	p.G365L	DPYSL5_uc002rhv.4_Missense_Mutation_p.G365L|DPYSL5_uc021vev.1_Missense_Mutation_p.G365L	NM_020134	NP_064519	Q9BPU6	DPYL5_HUMAN	Homo sapiens dihydropyrimidinase-like 5 (DPYSL5), transcript variant 1, mRNA.	365					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			breast(1)|endometrium(5)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATTTCAGGTTGGAGGAAAGATG	0.535000														102			7		0	0	6.4e-05	0	0
COL28A1	340267	broad.mit.edu	37	7	7529089	7529089	+	Splice_Site	SNP	C	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr7:7529089C>A	uc003src.1	-	13	1213	c.1096_splice	c.e13-1	p.G366_splice	COL28A1_uc011jxe.1_Splice_Site_p.G49_splice|COL28A1_uc003srd.3_Splice_Site	NM_001037763	NP_001032852	Q2UY09	COSA1_HUMAN	Homo sapiens collagen, type XXVIII, alpha 1 (COL28A1), mRNA.	366					cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		CTCTTTCTCCCTAAGAGAAAG	0.388000														79			6		0.000274275	0.00385584	0.000274275	1	0
EML5	161436	broad.mit.edu	37	14	89093316	89093316	+	Missense_Mutation	SNP	G	C	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr14:89093316G>C	uc021ryf.1	-	33	4855	c.4606C>G	c.(4606-4608)Cag>Gag	p.Q1536E	EML5_uc001xxf.3_Missense_Mutation_p.Q323E|EML5_uc021ryg.1_Missense_Mutation_p.Q1536E|EML5_uc001xxh.1_Missense_Mutation_p.Q667E	NM_183387	NP_899243	Q05BV3	EMAL5_HUMAN	Homo sapiens echinoderm microtubule associated protein like 5 (EML5), mRNA.	1528						cytoplasm|microtubule				breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						GAGACAAACTGGGTATCTGAA	0.453000														147			6		0	0	8.12818e-05	0	0
PCDHB3	56132	broad.mit.edu	37	5	140480503	140480503	+	Silent	SNP	G	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr5:140480503G>A	uc003lio.3	+	0	270	c.270G>A	c.(268-270)ttG>ttA	p.L90L	BC016751_uc003lin.3_Intron	NM_018937	NP_061760	Q9Y5E6	PCDB3_HUMAN	Homo sapiens protocadherin beta 3 (PCDHB3), mRNA.	90	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ATGAGAAATTGGACCGGGAGG	0.488000														143			16		0	0	0.000566183	0	0
SLC44A1	23446	broad.mit.edu	37	9	108123571	108123571	+	Missense_Mutation	SNP	G	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr9:108123571G>T	uc004bcn.3	+	7	1081	c.860G>T	c.(859-861)cGg>cTg	p.R287L	SLC44A1_uc004bco.1_Missense_Mutation_p.R79L	NM_080546	NP_536856	Q8WWI5	CTL1_HUMAN	Homo sapiens solute carrier family 44, member 1 (SLC44A1), mRNA.	287						integral to membrane|mitochondrial outer membrane|plasma membrane	choline transmembrane transporter activity	p.R287L(2)		breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	38					Choline(DB00122)	GACAATCTTCGGGCCCTCCTC	0.453000														174			7		0.000442599	0.00580232	0.000442599	1	0
ATP7A	538	broad.mit.edu	37	X	77298914	77298914	+	Nonsense_Mutation	SNP	G	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chrX:77298914G>T	uc004ecx.4	+	20	4265	c.4105G>T	c.(4105-4107)Gga>Tga	p.G1369*		NM_000052	NP_000043	Q04656	ATP7A_HUMAN	Homo sapiens ATPase, Cu++ transporting, alpha polypeptide (ATP7A), mRNA.	1369			G -> R (in MNKD).		ATP biosynthetic process|T-helper cell differentiation|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53						TAATCTGGTTGGAATTCCCAT	0.363000														234			9		5.50884e-06	9.65634e-05	0.00010058	1	0
ATIC	471	broad.mit.edu	37	2	216214334	216214334	+	Nonsense_Mutation	SNP	G	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr2:216214334G>T	uc002vex.4	+	15	1922	c.1735G>T	c.(1735-1737)Gga>Tga	p.G579*	ATIC_uc010zjo.2_Nonsense_Mutation_p.G520*|ATIC_uc002vey.4_Nonsense_Mutation_p.G578*	NM_004044	NP_004035	P31939	PUR9_HUMAN	Homo sapiens 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase (ATIC), mRNA.	579					IMP biosynthetic process|purine base metabolic process	cytosol	IMP cyclohydrolase activity|phosphoribosylaminoimidazolecarboxamide formyltransferase activity|protein homodimerization activity		ATIC/ALK(24)	large_intestine(2)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	8		Renal(323;0.229)		Epithelial(149;2.02e-06)|all cancers(144;0.000316)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.0097)	Tetrahydrofolic acid(DB00116)	CGACGAACTGGGAATCATCCT	0.498000			T	ALK	ALCL									111			9		0.000673444	0.00850193	0.000673444	1	0
MYH1	4619	broad.mit.edu	37	17	10406562	10406562	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr17:10406562C>T	uc002gmo.3	-	22	2789	c.2695G>A	c.(2695-2697)Gct>Act	p.A899T	AK097500_uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA.	899						muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						AAGCTGTCAGCTTCCTGAGAA	0.353000														162			10		0	0	0.000673444	0	0
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	Missense_Mutation	SNP	A	G	G	rs2257765		TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr10:38654432A>G	uc010qex.1	+	4	599	c.524A>G	c.(523-525)aAt>aGt	p.N175S	HSD17B7P2_uc001izq.3_Non-coding_Transcript|HSD17B7P2_uc001izo.1_Non-coding_Transcript|HSD17B7P2_uc001izp.1_Missense_Mutation_p.N173S					Homo sapiens hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2 (HSD17B7P2), non-coding RNA.																		TCATCTCGCAATGCAAGGAAA	0.453000														84			4		0	0	0.000602214	0	0
SRSF6	6431	broad.mit.edu	37	20	42089213	42089213	+	Silent	SNP	C	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr20:42089213C>A	uc010zwg.2	+	4	819	c.649C>A	c.(649-651)Cga>Aga	p.R217R	SRSF6_uc002xki.3_Silent_p.R88R	NM_006275	NP_006266	Q13247	SRSF6_HUMAN	Homo sapiens serine/arginine-rich splicing factor 6 (SRSF6), transcript variant 1, mRNA.	217	Arg/Ser-rich (RS domain).				mRNA 3'-end processing|mRNA export from nucleus|mRNA splice site selection|termination of RNA polymerase II transcription	nucleoplasm	RNA binding|nucleotide binding|protein binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|upper_aerodigestive_tract(2)	5						CAGTAGATCTCGAAGTATCTC	0.423000														114			8		0.000442599	0.00580232	0.000442599	1	0
ZFP28	140612	broad.mit.edu	37	19	57066327	57066327	+	Missense_Mutation	SNP	G	C	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr19:57066327G>C	uc002qnj.3	+	7	2244	c.2173G>C	c.(2173-2175)Ggc>Cgc	p.G725R	BX647249_uc002qnk.1_Intron	NM_020828	NP_065879	Q8NHY6	ZFP28_HUMAN	Homo sapiens zinc finger protein 28 homolog (mouse) (ZFP28), mRNA.	725					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(6)|ovary(1)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	35		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0302)		ACTGCACACTGGCCAAAGACC	0.413000														107			6		0	0	0.000442599	0	0
AHNAK	79026	broad.mit.edu	37	11	62295701	62295701	+	Missense_Mutation	SNP	G	C	C	rs1298917		TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr11:62295701G>C	uc001ntl.3	-	4	6488	c.6188C>G	c.(6187-6189)gCa>gGa	p.A2063G	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	Homo sapiens AHNAK nucleoprotein (AHNAK), transcript variant 1, mRNA.	2063					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TGGGCCCTCTGCTTTGAAGCC	0.522000														284			9		0	0	0.000274275	0	0
RNF208	727800	broad.mit.edu	37	9	140114995	140114995	+	Missense_Mutation	SNP	C	G	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr9:140114995C>G	uc004clz.2	-	0	781	c.670G>C	c.(670-672)Ggg>Cgg	p.G224R		NM_031297	NP_112587	Q9H0X6	RN208_HUMAN	Homo sapiens ring finger protein 208 (RNF208), mRNA.	224							zinc ion binding			lung(1)	1	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		CACTGACCCCCGGATGGGGCC	0.701000														13			3		0	0	6.4e-05	0	0
FCGR1A	2209	broad.mit.edu	37	1	149759970	149759970	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:149759970C>T	uc001esp.4	+	3	406	c.356C>T	c.(355-357)cCt>cTt	p.P119L	HIST2H2BF_uc010pbj.2_Intron|FCGR1A_uc009wlh.1_Non-coding_Transcript	NM_000566	NP_000557	P12314	FCGR1_HUMAN	Homo sapiens Fc fragment of IgG, high affinity Ia, receptor (CD64) (FCGR1A), mRNA.	119	Ig-like C2-type 2.				interferon-gamma-mediated signaling pathway|phagocytosis, engulfment	integral to membrane|plasma membrane	IgG binding|receptor activity|receptor signaling protein activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)	10	Breast(34;0.0124)|all_hematologic(923;0.127)				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)|Methyl aminolevulinate(DB00992)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Porfimer(DB00707)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	GAAGGAGAACCTCTGGCCTTG	0.453000														101			9		0	0	6.40141e-05	0	0
CXADRP3	440224	broad.mit.edu	37	18	14479225	14479225	+	RNA	SNP	C	G	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr18:14479225C>G	uc010xai.2	-	2		c.339G>C								Homo sapiens coxsackie virus and adenovirus receptor pseudogene 3 (CXADRP3), non-coding RNA.																		TGGTGAAATCCGCGACTCCGC	0.572000														21			4		0	0	0.00024832	0	0
C17orf39	79018	broad.mit.edu	37	17	17965254	17965254	+	Silent	SNP	C	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr17:17965254C>A	uc002gsg.1	+	4	972	c.804C>A	c.(802-804)tcC>tcA	p.S268S		NM_024052	NP_076957	Q8IVV7	CQ039_HUMAN	Homo sapiens chromosome 17 open reading frame 39 (C17orf39), mRNA.	268										large_intestine(2)|lung(1)|ovary(2)|skin(1)	6	all_neural(463;0.228)					CAGCAGCCTCCATAGAGGGCT	0.542000														141			8		5.50884e-06	9.65634e-05	0.00010058	1	0
FAM55D	54827	broad.mit.edu	37	11	114453572	114453572	+	Missense_Mutation	SNP	G	C	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr11:114453572G>C	uc001ppc.3	-	2	449	c.268C>G	c.(268-270)Cac>Gac	p.H90D	FAM55D_uc001ppd.3_5'UTR	NM_001077639	NP_001071107	Q6UWF7	FA55D_HUMAN	Homo sapiens family with sequence similarity 55, member D (FAM55D), transcript variant 1, mRNA.	90						extracellular region				breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(17)|ovary(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(61;8.53e-16)|all_epithelial(67;1.71e-08)|all_hematologic(158;3.05e-05)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0194)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906)		BRCA - Breast invasive adenocarcinoma(274;2.82e-06)|Epithelial(105;0.000129)|all cancers(92;0.000938)		GTGTTCACGTGGGTGAAAGGT	0.502000														102			7		0	0	8.12818e-05	0	0
BAZ2A	11176	broad.mit.edu	37	12	57003918	57003918	+	Nonsense_Mutation	SNP	C	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr12:57003918C>A	uc001slq.1	-	8	2061	c.1867G>T	c.(1867-1869)Gaa>Taa	p.E623*	BAZ2A_uc001slp.1_Nonsense_Mutation_p.E621*|BAZ2A_uc009zow.1_Nonsense_Mutation_p.E591*	NM_013449	NP_038477	Q9UIF9	BAZ2A_HUMAN	Homo sapiens bromodomain adjacent to zinc finger domain, 2A (BAZ2A), mRNA.	623					DNA methylation|chromatin silencing at rDNA|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	DNA binding|RNA binding|histone acetyl-lysine binding|ligand-dependent nuclear receptor binding|zinc ion binding			breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1)	31						TCTCTTTCTTCAAAGAAATCT	0.512000														112			7		0.000274275	0.00385584	0.000274275	1	0
UBR7	55148	broad.mit.edu	37	14	93685665	93685665	+	Silent	SNP	C	G	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr14:93685665C>G	uc001ybm.4	+	7	1154	c.918C>G	c.(916-918)ccC>ccG	p.P306P	UBR7_uc001ybn.4_Silent_p.P230P|UBR7_uc010auq.3_Silent_p.P155P	NM_175748	NP_786924	Q8N806	UBR7_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 7 (putative) (UBR7), transcript variant 2, mRNA.	306							ubiquitin-protein ligase activity|zinc ion binding			breast(2)|endometrium(2)|large_intestine(2)|lung(12)|urinary_tract(1)	19						CCTATTGGCCCCTGAACTGGC	0.433000														51			3		0	0	6.4e-05	0	0
RUNX2	860	broad.mit.edu	37	6	45480097	45480097	+	Missense_Mutation	SNP	G	C	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr6:45480097G>C	uc011dvx.2	+	6	1184	c.974G>C	c.(973-975)cGg>cCg	p.R325P	RUNX2_uc011dvy.2_Missense_Mutation_p.R325P|RUNX2_uc003oxt.3_Missense_Mutation_p.R311P	NM_001024630	NP_001019801	Q13950	RUNX2_HUMAN	Homo sapiens runt-related transcription factor 2 (RUNX2), transcript variant 1, mRNA.	325	Pro/Ser/Thr-rich.				negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						TCTTCCACACGGGGCACTGGG	0.592000														65			4		0	0	3.59834e-05	0	0
COG6	57511	broad.mit.edu	37	13	40293484	40293484	+	Missense_Mutation	SNP	C	G	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr13:40293484C>G	uc001uxh.2	+	13	1496	c.1396C>G	c.(1396-1398)Cgt>Ggt	p.R466G	COG6_uc001uxi.2_Missense_Mutation_p.R414G|COG6_uc010acb.2_Missense_Mutation_p.R466G	NM_020751	NP_065802	Q9Y2V7	COG6_HUMAN	Homo sapiens component of oligomeric golgi complex 6 (COG6), transcript variant 1, mRNA.	466					protein transport	Golgi membrane|Golgi transport complex				NS(1)|kidney(2)|large_intestine(5)|lung(4)|skin(1)	13		Lung NSC(96;0.000124)|Breast(139;0.0199)|Prostate(109;0.0233)|Lung SC(185;0.0367)		all cancers(112;6.03e-09)|Epithelial(112;7e-07)|OV - Ovarian serous cystadenocarcinoma(117;0.00015)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.0168)		ATTAGATGCTCGTCAAGCTGA	0.358000														40			4		0	0	0.00024832	0	0
HINFP	25988	broad.mit.edu	37	11	119001505	119001505	+	Silent	SNP	C	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr11:119001505C>T	uc001pvp.3	+	3	496	c.252C>T	c.(250-252)cgC>cgT	p.R84R	HINFP_uc010rzb.2_Silent_p.R84R|HINFP_uc021qrj.1_Silent_p.R84R|HINFP_uc001pvq.3_Silent_p.R84R|HINFP_uc001pvr.3_5'Flank	NM_015517	NP_945322	Q9BQA5	HINFP_HUMAN	Homo sapiens histone H4 transcription factor (HINFP), transcript variant 1, mRNA.	84					DNA damage checkpoint|DNA repair|establishment of protein localization|in utero embryonic development|myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	enzyme binding|histone binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						ACCTCATCCGCCATGTCTACT	0.527000														148			15		0	0	0.00074312	0	0
ABCG8	64241	broad.mit.edu	37	2	44079767	44079767	+	Missense_Mutation	SNP	G	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr2:44079767G>T	uc002rtq.3	+	5	814	c.724G>T	c.(724-726)Ggg>Tgg	p.G242W	ABCG8_uc010yoa.2_Missense_Mutation_p.G242W	NM_022437	NP_071882	Q9H221	ABCG8_HUMAN	Homo sapiens ATP-binding cassette, sub-family G (WHITE), member 8 (ABCG8), mRNA.	242	ABC transporter.				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				ACCCACCTCTGGGCTCGACAG	0.607000														208			11		0.000566183	0.00740858	0.000566183	1	0
GTF2IRD2P1	401375	broad.mit.edu	37	7	72657583	72657583	+	Silent	SNP	C	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr7:72657583C>T	uc003txs.1	-	12	2329	c.1401G>A	c.(1399-1401)acG>acA	p.T467T	FKBP6_uc003twz.2_Intron					Homo sapiens GTF2I repeat domain containing 2 pseudogene 1 (GTF2IRD2P1), non-coding RNA.																		tgtcgatcttcgtggagaacg	0.498000														143			15		0	0	0.000375601	0	0
PDIA4	9601	broad.mit.edu	37	7	148701264	148701264	+	Silent	SNP	G	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr7:148701264G>T	uc003wff.2	-	9	1842	c.1560C>A	c.(1558-1560)ccC>ccA	p.P520P		NM_004911	NP_004902	P13667	PDIA4_HUMAN	Homo sapiens protein disulfide isomerase family A, member 4 (PDIA4), mRNA.	520	Thioredoxin 3.				cell redox homeostasis|glycerol ether metabolic process|protein secretion	endoplasmic reticulum lumen|melanosome	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			large_intestine(6)|lung(15)|ovary(2)|prostate(1)	24	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00385)			TGTTGTTCTTGGGCACTGGCT	0.557000														223			9		0.000219431	0.00323436	0.000219431	1	0
FAF1	11124	broad.mit.edu	37	1	50907144	50907145	+	Frame_Shift_Del	DEL	GA	-	-			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:50907144_50907145delGA	uc001cse.1	-	18	2373_2374	c.1920_1921delTC	c.(1918-1923)cctcaafs	p.P640fs	FAF1_uc009vyw.1_Non-coding_Transcript|FAF1_uc010onc.1_Frame_Shift_Del_p.P398fs	NM_007051	NP_008982	Q9UNN5	FAF1_HUMAN	Homo sapiens Fas (TNFRSF6) associated factor 1 (FAF1), mRNA.	640	UBX.				apoptosis|cytoplasmic sequestering of NF-kappaB|positive regulation of apoptosis|positive regulation of protein complex assembly|proteasomal ubiquitin-dependent protein catabolic process|regulation of protein catabolic process	CD95 death-inducing signaling complex|cytosol|perinuclear region of cytoplasm	NF-kappaB binding|heat shock protein binding|protein kinase binding|protein kinase regulator activity			breast(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|pancreas(2)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(3;3.18e-11)|all cancers(3;0.00526)		AGGGTTTCTTGAGGGAACAACT	0.436													---	4	---	---	2	---					
VAV3	10451	broad.mit.edu	37	1	108507542	108507544	+	Splice_Site	DEL	GCC	-	-	rs71796067		TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:108507542_108507544delGCC	uc001dvk.1	-	1	1	c.-53_splice	c.e1-1		VAV3_uc010ouw.1_Splice_Site|VAV3_uc001dvl.1_5'Flank|VAV3_uc010oux.1_Splice_Site	NM_006113	NP_006104	Q9UKW4	VAV3_HUMAN	Homo sapiens vav 3 guanine nucleotide exchange factor (VAV3), transcript variant 1, mRNA.						B cell receptor signaling pathway|angiogenesis|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of B cell proliferation|regulation of Rho protein signal transduction|response to DNA damage stimulus|response to drug|small GTPase mediated signal transduction	cytosol	GTPase activator activity|SH3/SH2 adaptor activity|metal ion binding			NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1)	58		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)		CAAGGATGCGgccgccgccgccg	0.773													---	11	---	---	7	---					
FLG	2312	broad.mit.edu	37	1	152276467	152276468	+	In_Frame_Ins	INS	-	GGA	GGA			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:152276467_152276468insGGA	uc001ezu.1	-	2	10930_10931	c.10894_10895insTCC	c.(10894-10896)cag>cTCCag	p.3631_3632insL		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	3631	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTCTGCTGACTGCTGGTGGTGG	0.554									Ichthyosis				---	419	---	---	10	---					
ITPRIPL1	150771	broad.mit.edu	37	2	96992793	96992795	+	In_Frame_Del	DEL	GAG	-	-			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr2:96992793_96992795delGAG	uc002svy.3	+	0	859_861	c.448_450delGAG	c.(448-450)gagdel	p.E155del	ITPRIPL1_uc002svx.3_In_Frame_Del_p.E147del|ITPRIPL1_uc010yuk.2_In_Frame_Del_p.E139del|ITPRIPL1_uc010yul.2_In_Frame_Del_p.E139del	NM_178495	NP_001156996	Q6GPH6	IPIL1_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor interacting protein-like 1 (ITPRIPL1), transcript variant 1, mRNA.	147						integral to membrane				breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TTCCAGCAGTGAGGAGGAGGAGG	0.532													---	105	---	---	7	---					
VENTXP7	391518	broad.mit.edu	37	3	21447901	21447902	+	RNA	INS	-	CC	CC	rs143568999	by1000genomes	TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr3:21447901_21447902insCC	uc003ccd.3	+	0		c.684_685insCC								Homo sapiens VENT homeobox pseudogene 7 (VENTXP7), non-coding RNA.																		CTGGCATACCACCCCCCACGCC	0.663													---	3	---	---	7	---					
LNX1	84708	broad.mit.edu	37	4	54344769	54344769	+	Frame_Shift_Del	DEL	G	-	-	rs144424207	by1000genomes	TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr4:54344769delG	uc003hag.4	-	7	1882	c.1626delC	c.(1624-1626)cccfs	p.P542fs	PDGFRA_uc003haa.3_Intron|LNX1_uc003haf.4_Frame_Shift_Del_p.P446fs|LNX1_uc003hah.4_Non-coding_Transcript	NM_001126328	NP_001119800	Q8TBB1	LNX1_HUMAN	Homo sapiens ligand of numb-protein X 1 (LNX1), transcript variant 1, mRNA.	542	PDZ 3.					cytoplasm	zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|endometrium(3)|large_intestine(11)|lung(6)|ovary(3)|urinary_tract(4)	32	all_neural(26;0.153)		GBM - Glioblastoma multiforme(3;8.2e-46)|LUSC - Lung squamous cell carcinoma(32;0.0134)			TGACTCCTCCGGGCTCAACAC	0.448													---	151	---	---	8	---					
PAPD7	11044	broad.mit.edu	37	5	6755013	6755014	+	Frame_Shift_Del	DEL	AC	-	-			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr5:6755013_6755014delAC	uc003jdx.1	+	12	1713_1714	c.1584_1585delAC	c.(1582-1587)aaacacfs	p.K528fs	PAPD7_uc011cmn.2_Frame_Shift_Del_p.K527fs|PAPD7_uc010itl.1_Frame_Shift_Del_p.K348fs	NM_006999	NP_001165277	Q5XG87	PAPD7_HUMAN	Homo sapiens PAP associated domain containing 7 (PAPD7), transcript variant 1, mRNA.	528					DNA replication|cell division|double-strand break repair|mitotic chromosome condensation|response to drug|sister chromatid cohesion	nucleus	DNA binding|DNA-directed DNA polymerase activity|SMC protein binding|metal ion binding			cervix(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						GGAGGAAAAAACACACACACAC	0.653													---	56	---	---	7	---					
UBLCP1	134510	broad.mit.edu	37	5	158697396	158697398	+	In_Frame_Del	DEL	ATG	-	-			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr5:158697396_158697398delATG	uc003lxq.2	+	3	601_603	c.275_277delATG	c.(274-279)aatgat>aat	p.D94del		NM_145049	NP_659486	Q8WVY7	UBCP1_HUMAN	Homo sapiens ubiquitin-like domain containing CTD phosphatase 1 (UBLCP1), mRNA.	94						nucleus	phosphoprotein phosphatase activity			endometrium(1)|kidney(3)|large_intestine(4)|ovary(1)	9	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CCCCCTGACAATGATGATGTTGT	0.320													---	258	---	---	8	---					
KIF13A	63971	broad.mit.edu	37	6	17804670	17804671	+	Frame_Shift_Ins	INS	-	A	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr6:17804670_17804671insA	uc003ncg.4	-	19	2535_2536	c.2375_2376insT	c.(2374-2376)gtgfs	p.V792fs	KIF13A_uc003ncf.3_Frame_Shift_Ins_p.V792fs|KIF13A_uc003nch.4_Frame_Shift_Ins_p.V792fs|KIF13A_uc003nci.4_Frame_Shift_Ins_p.V792fs	NM_022113	NP_071396	Q9H1H9	KI13A_HUMAN	Homo sapiens kinesin family member 13A (KIF13A), transcript variant 1, mRNA.	792					Golgi to plasma membrane protein transport|cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			ATACATTCGCCACCCCGATGAG	0.515													---	7	---	---	4	---					
TPK1	27010	broad.mit.edu	37	7	144320288	144320288	+	Frame_Shift_Del	DEL	G	-	-			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr7:144320288delG	uc003weq.3	-	5	428	c.325delC	c.(325-327)caafs	p.Q109fs	TPK1_uc003weo.3_Frame_Shift_Del_p.Q104fs|TPK1_uc003wep.3_Non-coding_Transcript|TPK1_uc003wer.3_Frame_Shift_Del_p.Q109fs|TPK1_uc003wes.3_Non-coding_Transcript	NM_022445	NP_071890	Q9H3S4	TPK1_HUMAN	Homo sapiens thiamin pyrophosphokinase 1 (TPK1), transcript variant 1, mRNA.	109					thiamine diphosphate biosynthetic process	cytosol	ATP binding|kinase activity|thiamine diphosphokinase activity	p.Q109K(2)		large_intestine(3)|lung(12)|ovary(2)|urinary_tract(2)	19					Thiamine(DB00152)	ATCTTCTTTTGGAGCATTTTA	0.318													---	387	---	---	7	---					
COPS5	10987	broad.mit.edu	37	8	67958081	67958082	+	Frame_Shift_Ins	INS	-	T	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr8:67958081_67958082insT	uc003xxf.3	-	8	1193_1194	c.1020_1021insA	c.(1018-1023)aaatcafs	p.K340fs	COPS5_uc003xxd.3_Frame_Shift_Ins_p.K231fs|COPS5_uc003xxe.3_Frame_Shift_Ins_p.K295fs|COPS5_uc010lyu.1_Non-coding_Transcript|JA611241_uc022avn.1_5'Flank			Q92905	CSN5_HUMAN	Homo sapiens COP9 constitutive photomorphogenic homolog subunit 5 (Arabidopsis) (COPS5), mRNA.	295					cullin deneddylation|transcription from RNA polymerase II promoter	eukaryotic translation initiation factor 3 complex|signalosome	metal ion binding|metallopeptidase activity|protein binding|transcription coactivator activity|translation initiation factor activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|skin(3)	14	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00389)|OV - Ovarian serous cystadenocarcinoma(28;0.00691)|all cancers(69;0.0205)|BRCA - Breast invasive adenocarcinoma(89;0.153)			TTGTCTTCTGATTTTCGGTCAT	0.411													---	159	---	---	12	---					
CDKN2A	1029	broad.mit.edu	37	9	21971145	21971148	+	Frame_Shift_Del	DEL	GTTG	-	-			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr9:21971145_21971148delGTTG	uc003zpk.3	-	1	516_519	c.210_213delCAAC	c.(208-213)cccaacfs	p.P70fs	MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.3_3'UTR|CDKN2A_uc010miu.3_Frame_Shift_Del_p.P70fs|CDKN2A_uc003zpl.3_Frame_Shift_Del_p.Q85fs	NM_000077	NP_000068	P42771	CD2A1_HUMAN	Homo sapiens cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4) (CDKN2A), transcript variant 1, mRNA.	70			Missing (in melanoma; loss of CDK4 binding).		G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|Ras protein signal transduction|cell cycle arrest|cell cycle checkpoint|induction of apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|replicative senescence	cytosol|nucleus	NF-kappaB binding|cyclin-dependent protein kinase inhibitor activity|protein binding|protein kinase binding	p.0?(1315)|p.?(44)|p.E69*(16)|p.N71K(6)|p.N71D(3)|p.E69V(3)|p.N71fs*50(2)|p.P70L(2)|p.N71N(2)|p.C72fs*74(2)|p.N71fs*1(2)|p.N71I(2)|p.E69fs*51(2)|p.E61_L94del(2)|p.E69K(1)|p.P70A(1)|p.V59fs*45(1)|p.P70S(1)|p.E69Q(1)|p.L64_E69>Q(1)|p.L65fs*38(1)|p.A68fs*3(1)|p.0(1)|p.L127fs*>47(1)|p.L63fs*75(1)|p.P70fs*?(1)|p.Q126R(1)|p.E69fs*77(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		GGTCGGCGCAGTTGGGCTCCGCGC	0.721		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			---	83	---	---	7	---					
KIF11	3832	broad.mit.edu	37	10	94397154	94397154	+	Frame_Shift_Del	DEL	A	-	-			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr10:94397154delA	uc001kic.3	+	15	2320	c.2012delA	c.(2011-2013)caafs	p.Q671fs		NM_004523	NP_004514	P52732	KIF11_HUMAN	Homo sapiens kinesin family member 11 (KIF11), mRNA.	671					blood coagulation|cell division|microtubule-based movement|spindle assembly involved in mitosis	chromatin remodeling complex|cytosol|kinesin complex|microtubule|spindle pole	ATP binding|microtubule motor activity|protein kinase binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						ATAGAAGATCAAAAAAAGGAA	0.323													---	528	---	---	7	---					
PSMA1	5682	broad.mit.edu	37	11	14529252	14529254	+	In_Frame_Del	DEL	CAT	-	-			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr11:14529252_14529254delCAT	uc001mll.3	-	9	1046_1048	c.701_703delATG	c.(700-705)gatgtg>gtg	p.D234del	PSMA1_uc010rcp.1_Non-coding_Transcript|PSMA1_uc001mlk.3_In_Frame_Del_p.D228del	NM_148976	NP_683877	P25786	PSA1_HUMAN	Homo sapiens proteasome (prosome, macropain) subunit, alpha type, 1 (PSMA1), transcript variant 1, mRNA.	228					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|viral reproduction	cytoplasm|nucleus|polysome|proteasome core complex, alpha-subunit complex	RNA binding|protein binding|threonine-type endopeptidase activity			large_intestine(1)|skin(1)|upper_aerodigestive_tract(1)	3						AATGGAGACACATCATCATCATC	0.360													---	275	---	---	9	---					
EHF	26298	broad.mit.edu	37	11	34668169	34668169	+	Frame_Shift_Del	DEL	C	-	-			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr11:34668169delC	uc021qfu.1	+	2	473	c.347delC	c.(346-348)accfs	p.T116fs	EHF_uc001mvr.2_Frame_Shift_Del_p.T94fs|EHF_uc009yke.2_Frame_Shift_Del_p.T94fs|EHF_uc009ykf.2_Frame_Shift_Del_p.T97fs	NM_001206616	NP_001193545	Q9NZC4	EHF_HUMAN	Homo sapiens ets homologous factor (EHF), transcript variant 1, mRNA.	94					cell proliferation|epithelial cell differentiation|multicellular organismal development|positive regulation of transcription, DNA-dependent		protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		NFIA/EHF(2)	autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|lung(8)|upper_aerodigestive_tract(1)	17		all_hematologic(20;0.117)	Epithelial(1;0.055)|all cancers(1;0.137)|STAD - Stomach adenocarcinoma(6;0.235)			CAGGAGTTCACCCGGGCGGCA	0.572													---	186	---	---	8	---					
RPAP3	79657	broad.mit.edu	37	12	48084302	48084302	+	Splice_Site	DEL	T	-	-			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr12:48084302delT	uc001rpr.3	-	6	783	c.667_splice	c.e6+1	p.D223_splice	RPAP3_uc010slk.2_Splice_Site_p.D64_splice|RPAP3_uc001rps.3_Splice_Site_p.D223_splice	NM_024604	NP_001139548	Q9H6T3	RPAP3_HUMAN	Homo sapiens RNA polymerase II associated protein 3 (RPAP3), transcript variant 1, mRNA.	223							binding			endometrium(2)|large_intestine(4)|liver(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16	Lung SC(27;0.192)					AGAAAATACCTTTTTTGGCCT	0.363													---	327	---	---	7	---					
ASCL1	429	broad.mit.edu	37	12	103352171	103352172	+	In_Frame_Ins	INS	-	GCA	GCA	rs71438488		TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr12:103352171_103352172insGCA	uc001tjr.4	+	0	720_721	c.149_150insGCA	c.(148-150)gcg>gcGCAg	p.62_63insQ	ASCL1_uc021rcu.1_In_Frame_Ins_p.62_63insQ	NM_004316	NP_004307	P50553	ASCL1_HUMAN	Homo sapiens achaete-scute complex homolog 1 (Drosophila) (ASCL1), mRNA.	62	Poly-Gln.			Q -> QQQ (in Ref. 1).	Notch signaling pathway|cerebral cortex GABAergic interneuron differentiation|negative regulation of apoptosis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|noradrenergic neuron fate commitment|positive regulation of neuron differentiation|positive regulation of transcription from RNA polymerase II promoter|response to retinoic acid|sympathetic nervous system development	nucleus	E-box binding|bHLH transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription factor binding transcription factor activity			NS(3)|large_intestine(1)|lung(1)	5						gcgcagagcgcgcagcagcagc	0.757													---	3	---	---	5	---					
C14orf49	161176	broad.mit.edu	37	14	95916406	95916407	+	Frame_Shift_Del	DEL	CG	-	-			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr14:95916406_95916407delCG	uc001yei.4	-	6	1325_1326	c.1310_1311delCG	c.(1309-1311)gcgfs	p.A437fs	C14orf49_uc010avi.3_Frame_Shift_Del_p.A437fs|C14orf49_uc001yej.1_Frame_Shift_Del_p.A437fs	NM_152592	NP_689805	Q6ZMZ3	SYNE3_HUMAN	Homo sapiens chromosome 14 open reading frame 49 (C14orf49), mRNA.	437					cytoskeletal anchoring at nuclear membrane	SUN-KASH complex|integral to membrane|nuclear outer membrane	actin binding			breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(27)|prostate(5)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	50		all_cancers(154;0.0937)		COAD - Colon adenocarcinoma(157;0.245)		GCTCCACCGCCGCGGCATTGCG	0.649													---	8	---	---	4	---					
ITGA11	22801	broad.mit.edu	37	15	68657130	68657130	+	Frame_Shift_Del	DEL	A	-	-			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr15:68657130delA	uc010bib.3	-	3	359	c.272delT	c.(271-273)gtcfs	p.V91fs	ITGA11_uc002ari.3_Frame_Shift_Del_p.V91fs	NM_001004439	NP_001004439	Q9UKX5	ITA11_HUMAN	Homo sapiens integrin, alpha 11 (ITGA11), mRNA.	91					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development	integrin complex	collagen binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52					Tirofiban(DB00775)	GGACAGGGTGACCCTTCCTGG	0.647													---	45	---	---	7	---					
RPGRIP1L	23322	broad.mit.edu	37	16	53691525	53691525	+	Frame_Shift_Del	DEL	T	-	-			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr16:53691525delT	uc002ehp.3	-	12	1485	c.1421delA	c.(1420-1422)aatfs	p.N474fs	RPGRIP1L_uc002eho.4_Frame_Shift_Del_p.N474fs|RPGRIP1L_uc010vgy.2_Frame_Shift_Del_p.N474fs|RPGRIP1L_uc010cbx.3_Frame_Shift_Del_p.N474fs|RPGRIP1L_uc010vgz.1_Frame_Shift_Del_p.N474fs	NM_015272	NP_056087	Q68CZ1	FTM_HUMAN	Homo sapiens RPGRIP1-like (RPGRIP1L), transcript variant 1, mRNA.	474					negative regulation of G-protein coupled receptor protein signaling pathway	cell-cell junction|centrosome|cilium axoneme|microtubule basal body	thromboxane A2 receptor binding			endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2)	46		all_cancers(37;0.0973)				AAGGTCTCCATTTTTTTGTTC	0.294													---	524	---	---	7	---					
CSRP2BP	57325	broad.mit.edu	37	20	18142850	18142850	+	Frame_Shift_Del	DEL	C	-	-			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr20:18142850delC	uc021wbb.1	+	4	1506	c.1069delC	c.(1069-1071)ccafs	p.P357fs	CSRP2BP_uc002wqk.3_Frame_Shift_Del_p.P229fs|CSRP2BP_uc010zru.2_Frame_Shift_Del_p.P228fs	NM_020536	NP_065397	Q9H8E8	CSR2B_HUMAN	Homo sapiens CSRP2 binding protein (CSRP2BP), transcript variant 1, mRNA.	357					histone H3 acetylation	Ada2/Gcn5/Ada3 transcription activator complex|cytoplasm	LIM domain binding|N-acetyltransferase activity			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|stomach(1)	34						AGATCTGATTCCAGATGTGAT	0.458													---	375	---	---	7	---					
TRIOBP	11078	broad.mit.edu	37	22	38119882	38119884	+	In_Frame_Del	DEL	CCT	-	-			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	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	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)					AATCCCAGAGCCTCCTCTCCCAG	0.601													---	120	---	---	7	---