Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
ARRDC1	92714	broad.mit.edu	37	9	140508526	140508526	+	Missense_Mutation	SNP	C	C	A			TCGA-A4-8515-01A-11D-2396-08	TCGA-A4-8515-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d3ff544-d2cb-4e64-8f22-6ff73447d5d8	af2ca6b1-94ef-4660-8a55-522a8022d5b2	g.chr9:140508526C>A	uc004cnp.2	+	4	552	c.478C>A	c.(478-480)Ctg>Atg	p.L160M	ARRDC1_uc004cns.3_Missense_Mutation_p.L160M|ARRDC1_uc004cnx.2_Missense_Mutation_p.L35M			Q8N5I2	ARRD1_HUMAN	Homo sapiens arrestin domain containing 1 (ARRDC1), mRNA.	160										breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|urinary_tract(1)	13	all_cancers(76;0.106)			OV - Ovarian serous cystadenocarcinoma(145;0.000273)|Epithelial(140;0.000464)		CTCCTACAAGCTGGTGAAGAC	0.637000													56	104					5.99346e-17	7.11223e-17	1	1	0
ROMO1	140823	broad.mit.edu	37	20	34288799	34288799	+	Missense_Mutation	SNP	A	A	G			TCGA-A4-8515-01A-11D-2396-08	TCGA-A4-8515-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d3ff544-d2cb-4e64-8f22-6ff73447d5d8	af2ca6b1-94ef-4660-8a55-522a8022d5b2	g.chr20:34288799A>G	uc002xdy.3	+	2	358	c.211A>G	c.(211-213)Atg>Gtg	p.M71V	NFS1_uc002xdt.2_5'Flank|NFS1_uc010zvl.2_5'Flank|NFS1_uc010zvk.2_5'Flank|NFS1_uc002xdw.2_5'Flank|NFS1_uc002xdx.3_5'Flank|ROMO1_uc010gfm.3_Missense_Mutation_p.M71V	NM_080748	NP_542786	P60602	ROMO1_HUMAN	Homo sapiens reactive oxygen species modulator 1 (ROMO1), nuclear gene encoding mitochondrial protein, mRNA.	71					cellular response to reactive oxygen species|positive regulation of cell proliferation|positive regulation of reactive oxygen species metabolic process|replicative cell aging	integral to membrane|mitochondrial membrane				cervix(1)	1						TGGCACATTCATGGCCATTGG	0.517000													45	65					0	0	1	0	0
CCDC110	256309	broad.mit.edu	37	4	186380257	186380257	+	Missense_Mutation	SNP	C	C	A			TCGA-A4-8515-01A-11D-2396-08	TCGA-A4-8515-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d3ff544-d2cb-4e64-8f22-6ff73447d5d8	af2ca6b1-94ef-4660-8a55-522a8022d5b2	g.chr4:186380257C>A	uc003ixu.4	-	5	1560	c.1484G>T	c.(1483-1485)aGt>aTt	p.S495I	CCDC110_uc003ixv.4_Missense_Mutation_p.S458I|CCDC110_uc011ckt.1_Missense_Mutation_p.S495I	NM_152775	NP_689988	Q8TBZ0	CC110_HUMAN	Homo sapiens coiled-coil domain containing 110 (CCDC110), transcript variant 1, mRNA.	495						nucleus				NS(1)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(9)	30		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749)		OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164)		TTCTGTTTTACTTAACTTAGA	0.284000													11	18					6.40141e-05	6.78245e-05	1	1	0
FNBP4	23360	broad.mit.edu	37	11	47745665	47745665	+	Silent	SNP	A	A	G			TCGA-A4-8515-01A-11D-2396-08	TCGA-A4-8515-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d3ff544-d2cb-4e64-8f22-6ff73447d5d8	af2ca6b1-94ef-4660-8a55-522a8022d5b2	g.chr11:47745665A>G	uc009ylv.3	-	13	2532	c.2379T>C	c.(2377-2379)gcT>gcC	p.A793A	FNBP4_uc001ngj.3_Silent_p.A700A|FNBP4_uc001ngl.2_Non-coding_Transcript	NM_015308	NP_056123	Q8N3X1	FNBP4_HUMAN	Homo sapiens formin binding protein 4 (FNBP4), mRNA.	793										NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	44						TAATTTCTGTAGCTTTCCTCT	0.428000													29	41					0	0	1	0	0
ICAM5	7087	broad.mit.edu	37	19	10403449	10403449	+	Missense_Mutation	SNP	A	A	G			TCGA-A4-8515-01A-11D-2396-08	TCGA-A4-8515-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d3ff544-d2cb-4e64-8f22-6ff73447d5d8	af2ca6b1-94ef-4660-8a55-522a8022d5b2	g.chr19:10403449A>G	uc002mnu.4	+	4	1188	c.1123A>G	c.(1123-1125)Aac>Gac	p.N375D	ICAM5_uc002mnv.4_Missense_Mutation_p.N250D	NM_003259	NP_003250	Q9UMF0	ICAM5_HUMAN	Homo sapiens intercellular adhesion molecule 5, telencephalin (ICAM5), mRNA.	375	Ig-like C2-type 4.				cell-cell adhesion	integral to plasma membrane				breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)			TGCCACCGAGAACGACGACAG	0.622000													8	45					0	0	1	0	0
PELI1	57162	broad.mit.edu	37	2	64323347	64323347	+	Missense_Mutation	SNP	G	G	A			TCGA-A4-8515-01A-11D-2396-08	TCGA-A4-8515-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d3ff544-d2cb-4e64-8f22-6ff73447d5d8	af2ca6b1-94ef-4660-8a55-522a8022d5b2	g.chr2:64323347G>A	uc002scs.4	-	4	4641	c.602C>T	c.(601-603)tCc>tTc	p.S201F	PELI1_uc002sct.4_Missense_Mutation_p.S201F|PELI1_uc002scr.4_Missense_Mutation_p.S22F	NM_020651	NP_065702	Q96FA3	PELI1_HUMAN	Homo sapiens pellino homolog 1 (Drosophila) (PELI1), mRNA.	201					MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|innate immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol		p.S201Y(2)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|urinary_tract(1)	19						TCCAGGCTTGGAGTCTTCTGT	0.453000													42	74					0	0	1	0	0
MDN1	23195	broad.mit.edu	37	6	90411386	90411386	+	Missense_Mutation	SNP	T	T	A			TCGA-A4-8515-01A-11D-2396-08	TCGA-A4-8515-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d3ff544-d2cb-4e64-8f22-6ff73447d5d8	af2ca6b1-94ef-4660-8a55-522a8022d5b2	g.chr6:90411386T>A	uc003pnn.1	-	54	8434	c.8318A>T	c.(8317-8319)gAa>gTa	p.E2773V		NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	Homo sapiens MDN1, midasin homolog (yeast) (MDN1), mRNA.	2773					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		AGTCTGAACTTCTTTGTAATA	0.418000													22	24					0	0	1	0	0
SLC6A10P	386757	broad.mit.edu	37	16	32890622	32890622	+	Missense_Mutation	SNP	T	T	G			TCGA-A4-8515-01A-11D-2396-08	TCGA-A4-8515-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d3ff544-d2cb-4e64-8f22-6ff73447d5d8	af2ca6b1-94ef-4660-8a55-522a8022d5b2	g.chr16:32890622T>G	uc002edh.1	-	4	440	c.264A>C	c.(262-264)aaA>aaC	p.K88N	SLC6A10P_uc002edi.1_Non-coding_Transcript					Homo sapiens solute carrier family 6 (neurotransmitter transporter, creatine), member 10, pseudogene (SLC6A10P), non-coding RNA.																		CGTTGGTGTTTTTGTAGACCA	0.617000													3	20					0	0	1	0	0
ZNF99	7652	broad.mit.edu	37	19	22940575	22940575	+	Silent	SNP	T	T	C			TCGA-A4-8515-01A-11D-2396-08	TCGA-A4-8515-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d3ff544-d2cb-4e64-8f22-6ff73447d5d8	af2ca6b1-94ef-4660-8a55-522a8022d5b2	g.chr19:22940575T>C	uc021urt.1	-	3	2291	c.2136A>G	c.(2134-2136)aaA>aaG	p.K712K		NM_001080409	NP_001073878			Homo sapiens zinc finger protein 99 (ZNF99), mRNA.									p.K621K(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				GGCTAAAAGCTTTGCCACATT	0.378000													3	66					0	0	1	0	0
TP63	8626	broad.mit.edu	37	3	189586503	189586503	+	Missense_Mutation	SNP	G	G	A	rs143591434		TCGA-A4-8515-01A-11D-2396-08	TCGA-A4-8515-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d3ff544-d2cb-4e64-8f22-6ff73447d5d8	af2ca6b1-94ef-4660-8a55-522a8022d5b2	g.chr3:189586503G>A	uc003fry.2	+	7	1216	c.1127G>A	c.(1126-1128)cGc>cAc	p.R376H	TP63_uc003frx.2_Missense_Mutation_p.R376H|TP63_uc003frz.2_Missense_Mutation_p.R376H|TP63_uc010hzc.1_Missense_Mutation_p.R376H|TP63_uc003fsa.2_Missense_Mutation_p.R282H|TP63_uc003fsb.2_Missense_Mutation_p.R282H|TP63_uc003fsc.2_Missense_Mutation_p.R282H|TP63_uc003fsd.2_Missense_Mutation_p.R282H|TP63_uc021xir.1_Missense_Mutation_p.R282H|TP63_uc010hzd.1_Missense_Mutation_p.R197H|TP63_uc003fse.1_Intron	NM_003722	NP_003713	Q9H3D4	P63_HUMAN	Homo sapiens tumor protein p63 (TP63), transcript variant 1, mRNA.	376	Interaction with HIPK2.				DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|Notch signaling pathway|anti-apoptosis|cellular response to UV|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to X-ray|response to gamma radiation	Golgi apparatus|chromatin|cytosol|dendrite|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		GGTACGAAGCGCCGTAAGTAG	0.493000										HNSCC(45;0.13)			122	67					0	0	1	0	0
NCAM1	4684	broad.mit.edu	37	11	113103986	113103986	+	Missense_Mutation	SNP	G	G	T			TCGA-A4-8515-01A-11D-2396-08	TCGA-A4-8515-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d3ff544-d2cb-4e64-8f22-6ff73447d5d8	af2ca6b1-94ef-4660-8a55-522a8022d5b2	g.chr11:113103986G>T	uc021qqp.1	+	13	2084	c.1712G>T	c.(1711-1713)tGg>tTg	p.W571L	NCAM1_uc001pnp.3_Missense_Mutation_p.W535L|NCAM1_uc021qqo.1_Missense_Mutation_p.W535L|NCAM1_uc001pnq.3_Missense_Mutation_p.W545L|NCAM1_uc001pnr.3_Missense_Mutation_p.W535L	NM_001242607	NP_001229536	P13591	NCAM1_HUMAN	Homo sapiens neural cell adhesion molecule 1 (NCAM1), transcript variant 5, mRNA.	547	Fibronectin type-III 1.				axon guidance|interferon-gamma-mediated signaling pathway	Golgi membrane|anchored to membrane|extracellular region|integral to membrane		p.V570I(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		AAAGCTGAGTGGAGAGCAGTT	0.532000													15	24					6.72482e-11	7.57607e-11	1	1	0
ABCC4	10257	broad.mit.edu	37	13	95886864	95886864	+	Splice_Site	SNP	C	C	A			TCGA-A4-8515-01A-11D-2396-08	TCGA-A4-8515-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d3ff544-d2cb-4e64-8f22-6ff73447d5d8	af2ca6b1-94ef-4660-8a55-522a8022d5b2	g.chr13:95886864C>A	uc001vmd.4	-	4	650	c.531_splice	c.e4+1	p.K177_splice	ABCC4_uc010afk.3_Splice_Site_p.K177_splice|ABCC4_uc001vme.2_Splice_Site_p.K177_splice|ABCC4_uc010tih.1_Intron|ABCC4_uc001vmf.2_Splice_Site_p.K134_splice|ABCC4_uc010afl.1_Splice_Site_p.K134_splice|ABCC4_uc010afm.1_Splice_Site_p.K190_splice	NM_005845	NP_005836	O15439	MRP4_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 4 (ABCC4), transcript variant 1, mRNA.	177	ABC transmembrane type-1 1.				platelet activation|platelet degranulation	integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Cefazolin(DB01327)	TGTCACTTACCTTCCGATAAA	0.393000													16	21					3.32936e-07	3.70391e-07	1	1	0
MTRR	4552	broad.mit.edu	37	5	7886796	7886796	+	Missense_Mutation	SNP	A	A	G			TCGA-A4-8515-01A-11D-2396-08	TCGA-A4-8515-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d3ff544-d2cb-4e64-8f22-6ff73447d5d8	af2ca6b1-94ef-4660-8a55-522a8022d5b2	g.chr5:7886796A>G	uc003jed.3	+	7	1237	c.1207A>G	c.(1207-1209)Atc>Gtc	p.I403V	MTRR_uc003jee.4_Missense_Mutation_p.I376V|MTRR_uc003jef.4_Non-coding_Transcript|MTRR_uc003jeg.4_Non-coding_Transcript|MTRR_uc010ito.3_Intron	NM_024010	NP_076915	Q9UBK8	MTRR_HUMAN	Homo sapiens 5-methyltetrahydrofolate-homocysteine methyltransferase reductase (MTRR), transcript variant 2, mRNA.	403	FAD-binding FR-type.				methionine biosynthetic process	cytosol	FMN binding|NADP binding|[methionine synthase] reductase activity|flavin adenine dinucleotide binding|iron ion binding			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(14)|ovary(1)|prostate(3)|stomach(1)	31					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)	GTGTCTTGAAATCCGAGCAAT	0.363000													4	65					0	0	1	0	0
CCDC28B	79140	broad.mit.edu	37	1	32670343	32670343	+	Missense_Mutation	SNP	T	T	G			TCGA-A4-8515-01A-11D-2396-08	TCGA-A4-8515-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d3ff544-d2cb-4e64-8f22-6ff73447d5d8	af2ca6b1-94ef-4660-8a55-522a8022d5b2	g.chr1:32670343T>G	uc021okt.1	+	4	802	c.670T>G	c.(670-672)Ttt>Gtt	p.F224V	CCDC28B_uc001bul.1_Intron|IQCC_uc001bum.2_5'Flank|IQCC_uc009vua.2_5'Flank|IQCC_uc010ogz.1_5'Flank	NM_024296	NP_077272	Q9BUN5	CC28B_HUMAN	Homo sapiens coiled-coil domain containing 28B (CCDC28B), mRNA.	0										large_intestine(4)|lung(3)|ovary(1)|upper_aerodigestive_tract(2)	10		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				TCCTGTCAGATTTAGCCACAG	0.453000													36	46					0	0	1	0	0
UGDH	7358	broad.mit.edu	37	4	39515753	39515753	+	Missense_Mutation	SNP	A	A	G			TCGA-A4-8515-01A-11D-2396-08	TCGA-A4-8515-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d3ff544-d2cb-4e64-8f22-6ff73447d5d8	af2ca6b1-94ef-4660-8a55-522a8022d5b2	g.chr4:39515753A>G	uc003guk.2	-	2	537	c.214T>C	c.(214-216)Tct>Cct	p.S72P	UGDH_uc011byp.2_5'UTR|UGDH_uc003gul.2_Missense_Mutation_p.S72P	NM_003359	NP_001171630	O60701	UGDH_HUMAN	Homo sapiens UDP-glucose 6-dehydrogenase (UGDH), transcript variant 1, mRNA.	72					UDP-glucose metabolic process|UDP-glucuronate biosynthetic process|glycosaminoglycan biosynthetic process|xenobiotic metabolic process	cytosol	NAD binding|UDP-glucose 6-dehydrogenase activity|electron carrier activity	p.S72fs*18(2)		breast(1)|central_nervous_system(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(2)	27					NADH(DB00157)	ATATTGGTAGAAAAAAAAAGA	0.299000													33	46					0	0	1	0	0
ACSM1	116285	broad.mit.edu	37	16	20682868	20682868	+	Missense_Mutation	SNP	G	G	T			TCGA-A4-8515-01A-11D-2396-08	TCGA-A4-8515-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d3ff544-d2cb-4e64-8f22-6ff73447d5d8	af2ca6b1-94ef-4660-8a55-522a8022d5b2	g.chr16:20682868G>T	uc002dhm.1	-	3	805	c.737C>A	c.(736-738)cCc>cAc	p.P246H	ACSM1_uc002dhn.1_Non-coding_Transcript|ACSM1_uc010bwg.1_Missense_Mutation_p.P246H	NM_052956	NP_443188	Q08AH1	ACSM1_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 1 (ACSM1), mRNA.	246					benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process	mitochondrial matrix	ATP binding|GTP binding|acyl-CoA ligase activity|butyrate-CoA ligase activity|metal ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						TGGGAAGGAGGGTTGTAAGGC	0.527000													33	68					1.22384e-17	1.47191e-17	1	1	0
PCMTD1	115294	broad.mit.edu	37	8	52733204	52733204	+	Missense_Mutation	SNP	C	C	G			TCGA-A4-8515-01A-11D-2396-08	TCGA-A4-8515-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d3ff544-d2cb-4e64-8f22-6ff73447d5d8	af2ca6b1-94ef-4660-8a55-522a8022d5b2	g.chr8:52733204C>G	uc003xqx.4	-	5	1122	c.781G>C	c.(781-783)Gat>Cat	p.D261H	PCMTD1_uc011ldm.2_Missense_Mutation_p.D131H|PCMTD1_uc011ldn.2_Missense_Mutation_p.D73H|PCMTD1_uc010lya.3_Missense_Mutation_p.D185H	NM_052937	NP_443169	Q96MG8	PCMD1_HUMAN	Homo sapiens protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1 (PCMTD1), mRNA.	261						cytoplasm	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity			NS(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(17)|prostate(2)|skin(8)|soft_tissue(1)	37		Lung NSC(129;0.0795)|all_lung(136;0.144)				TGCATCTCATCATTTATGAAA	0.403000													6	129					0	0	1	0	0
BTG1	694	broad.mit.edu	37	12	92537939	92537939	+	Missense_Mutation	SNP	T	T	C			TCGA-A4-8515-01A-11D-2396-08	TCGA-A4-8515-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d3ff544-d2cb-4e64-8f22-6ff73447d5d8	af2ca6b1-94ef-4660-8a55-522a8022d5b2	g.chr12:92537939T>C	uc001tby.3	-	1	795	c.433A>G	c.(433-435)Agc>Ggc	p.S145G	BTG1_uc001tbv.1_5'Flank|BTG1_uc001tbw.1_5'Flank|BTG1_uc001tbx.1_5'Flank|BTG1_uc009zss.1_5'Flank|BC044741_uc001tca.3_5'Flank	NM_001731	NP_001722	P62324	BTG1_HUMAN	Homo sapiens B-cell translocation gene 1, anti-proliferative (BTG1), mRNA.	145					cell migration|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of angiogenesis|positive regulation of endothelial cell differentiation|positive regulation of myoblast differentiation|regulation of apoptosis|regulation of transcription, DNA-dependent	cytoplasm|nucleus	kinase binding|transcription cofactor activity			haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(1)|lung(2)	16		Acute lymphoblastic leukemia(6;3.02e-13)|all_hematologic(6;4.32e-09)				CTGATTCGGCTGTCTACCATT	0.473000			T	MYC	BCLL						OREG0022024	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	52	55					0	0	1	0	0
CENPL	91687	broad.mit.edu	37	1	173772191	173772191	+	Missense_Mutation	SNP	G	G	T			TCGA-A4-8515-01A-11D-2396-08	TCGA-A4-8515-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d3ff544-d2cb-4e64-8f22-6ff73447d5d8	af2ca6b1-94ef-4660-8a55-522a8022d5b2	g.chr1:173772191G>T	uc001gjg.4	-	5	1614	c.1011C>A	c.(1009-1011)ttC>ttA	p.F337L	CENPL_uc001gje.4_Missense_Mutation_p.F291L|CENPL_uc001gjf.4_Missense_Mutation_p.F291L	NM_001127181	NP_001120653	Q8N0S6	CENPL_HUMAN	Homo sapiens centromere protein L (CENPL), transcript variant 1, mRNA.	291					mitotic prometaphase	chromosome, centromeric region|cytosol|nucleus				breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(3)	11						AATGTCTATGGAAATGTGAAT	0.393000													7	66					0.00307968	0.00322461	1	1	0
RGPD3	653489	broad.mit.edu	37	2	107049631	107049631	+	Silent	SNP	C	C	T			TCGA-A4-8515-01A-11D-2396-08	TCGA-A4-8515-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d3ff544-d2cb-4e64-8f22-6ff73447d5d8	af2ca6b1-94ef-4660-8a55-522a8022d5b2	g.chr2:107049631C>T	uc010ywi.1	-	15	2373	c.2316G>A	c.(2314-2316)gcG>gcA	p.A772A		NM_001144013	NP_001137485	A6NKT7	RGPD3_HUMAN	Homo sapiens RANBP2-like and GRIP domain containing 3 (RGPD3), mRNA.	772					intracellular transport		binding	p.A772A(6)		breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						TTTCTGAATCCGCATTTCGCA	0.373000													5	270					0	0	1	0	0
C15orf59	388135	broad.mit.edu	37	15	74032301	74032301	+	Missense_Mutation	SNP	A	A	T			TCGA-A4-8515-01A-11D-2396-08	TCGA-A4-8515-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d3ff544-d2cb-4e64-8f22-6ff73447d5d8	af2ca6b1-94ef-4660-8a55-522a8022d5b2	g.chr15:74032301A>T	uc002avy.3	-	1	1184	c.839T>A	c.(838-840)cTg>cAg	p.L280Q		NM_001039614	NP_001034703	Q2T9L4	CO059_HUMAN	Homo sapiens chromosome 15 open reading frame 59 (C15orf59), mRNA.	280										breast(1)|endometrium(2)|large_intestine(2)|lung(6)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						TGTGTAGGGCAGAACCGTCTG	0.572000													54	70					0	0	1	0	0
C7orf26	79034	broad.mit.edu	37	7	6639468	6639468	+	Missense_Mutation	SNP	A	A	T			TCGA-A4-8515-01A-11D-2396-08	TCGA-A4-8515-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d3ff544-d2cb-4e64-8f22-6ff73447d5d8	af2ca6b1-94ef-4660-8a55-522a8022d5b2	g.chr7:6639468A>T	uc003sqo.1	+	3	589	c.589A>T	c.(589-591)Att>Ttt	p.I197F	C7orf26_uc003sqp.1_Missense_Mutation_p.I178F	NM_024067	NP_076972	Q96N11	CG026_HUMAN	Homo sapiens chromosome 7 open reading frame 26 (C7orf26), mRNA.	197										endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	11		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)		AGATGACCTCATTCCACCTAT	0.498000													106	82					0	0	1	0	0
UBC	7316	broad.mit.edu	37	17	21731144	21731144	+	Missense_Mutation	SNP	T	T	G	rs149119138	by1000genomes	TCGA-A4-8515-01A-11D-2396-08	TCGA-A4-8515-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d3ff544-d2cb-4e64-8f22-6ff73447d5d8	af2ca6b1-94ef-4660-8a55-522a8022d5b2	g.chr17:21731144T>G	uc002gyy.3	+	1	571	c.446T>G	c.(445-447)cTg>cGg	p.L149R				P0CG48	UBC_HUMAN	SubName: Full=Uncharacterized protein;	301	Ubiquitin-like 2.				DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|JNK cascade|M/G1 transition of mitotic cell cycle|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|S phase of mitotic cell cycle|T cell receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|innate immune response|mRNA metabolic process|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding	p.L149R(18)|p.R148S(1)		breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		GTCCTGCGTCTGAGAGGTGGT	0.542000													5	142					0	0	1	0	0
GOLGA4	2803	broad.mit.edu	37	3	37369907	37369907	+	Splice_Site	SNP	A	A	G			TCGA-A4-8515-01A-11D-2396-08	TCGA-A4-8515-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d3ff544-d2cb-4e64-8f22-6ff73447d5d8	af2ca6b1-94ef-4660-8a55-522a8022d5b2	g.chr3:37369907A>G	uc003cgv.3	+	15	6300	c.5940_splice	c.e15-1	p.K1980_splice	GOLGA4_uc003cgw.3_Splice_Site_p.K2002_splice|GOLGA4_uc010hgs.3_Intron|GOLGA4_uc003cgx.3_Splice_Site_p.K1861_splice	NM_002078	NP_002069	Q13439	GOGA4_HUMAN	Homo sapiens golgin A4 (GOLGA4), transcript variant 2, mRNA.	1980	Glu-rich.				Golgi to plasma membrane protein transport	Golgi membrane|trans-Golgi network	protein binding			NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						TATTACTCAGACAGGAGCAGG	0.413000													7	160					0	0	1	0	0
DENND4A	10260	broad.mit.edu	37	15	66031104	66031104	+	Silent	SNP	A	A	G			TCGA-A4-8515-01A-11D-2396-08	TCGA-A4-8515-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d3ff544-d2cb-4e64-8f22-6ff73447d5d8	af2ca6b1-94ef-4660-8a55-522a8022d5b2	g.chr15:66031104A>G	uc002api.3	-	5	1126	c.741T>C	c.(739-741)aaT>aaC	p.N247N	DENND4A_uc002aph.3_Silent_p.N247N|DENND4A_uc002apj.3_Silent_p.N247N|DENND4A_uc010ujj.1_Silent_p.N247N	NM_001144823	NP_001138295	Q7Z401	MYCPP_HUMAN	Homo sapiens DENN/MADD domain containing 4A (DENND4A), transcript variant 1, mRNA.	247	UDENN.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						GGTATTTGCTATTTGATGGCC	0.363000													45	61					0	0	1	0	0
NCOR1P1	149934	broad.mit.edu	37	20	26084295	26084295	+	Missense_Mutation	SNP	C	C	T	rs76611503	by1000genomes	TCGA-A4-8515-01A-11D-2396-08	TCGA-A4-8515-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d3ff544-d2cb-4e64-8f22-6ff73447d5d8	af2ca6b1-94ef-4660-8a55-522a8022d5b2	g.chr20:26084295C>T	uc002wvj.4	-	1	176	c.121G>A	c.(121-123)Gga>Aga	p.G41R						Homo sapiens nuclear receptor corepressor 1 pseudogene 1 (NCOR1P1), non-coding RNA.									p.G41R(1)									TGTTTGCCTCCAAATGCTGGA	0.373000													3	38					0	0	1	0	0
NSMAF	8439	broad.mit.edu	37	8	59498243	59498243	+	Missense_Mutation	SNP	G	G	T			TCGA-A4-8515-01A-11D-2396-08	TCGA-A4-8515-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d3ff544-d2cb-4e64-8f22-6ff73447d5d8	af2ca6b1-94ef-4660-8a55-522a8022d5b2	g.chr8:59498243G>T	uc011lee.2	-	29	2781	c.2720C>A	c.(2719-2721)gCa>gAa	p.A907E	NSMAF_uc003xtt.3_Missense_Mutation_p.A876E	NM_001144772	NP_001138244	Q92636	FAN_HUMAN	Homo sapiens neutral sphingomyelinase (N-SMase) activation associated factor (NSMAF), transcript variant 2, mRNA.	876					ceramide metabolic process	cytoplasm|soluble fraction	protein binding|receptor signaling protein activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	38		all_lung(136;0.174)|Lung NSC(129;0.2)				ACTGATTTTTGCTCCAAGGAG	0.448000													4	109					1.23904e-05	1.32861e-05	1	1	0
C1orf194	127003	broad.mit.edu	37	1	109649721	109649721	+	Silent	SNP	G	G	A			TCGA-A4-8515-01A-11D-2396-08	TCGA-A4-8515-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d3ff544-d2cb-4e64-8f22-6ff73447d5d8	af2ca6b1-94ef-4660-8a55-522a8022d5b2	g.chr1:109649721G>A	uc009wev.3	-	2	290	c.222C>T	c.(220-222)ttC>ttT	p.F74F	C1orf194_uc001dwp.4_Intron|C1orf194_uc009wew.3_Silent_p.F62F	NM_001122961	NP_001116433	Q5T5A4	CA194_HUMAN	Homo sapiens chromosome 1 open reading frame 194 (C1orf194), mRNA.	74										large_intestine(2)|lung(2)|ovary(2)	6						CTGCTAAGCGGAAGTCCAGGT	0.483000													80	102					0	0	1	0	0
RUSC2	9853	broad.mit.edu	37	9	35560975	35560975	+	Silent	SNP	G	G	A			TCGA-A4-8515-01A-11D-2396-08	TCGA-A4-8515-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d3ff544-d2cb-4e64-8f22-6ff73447d5d8	af2ca6b1-94ef-4660-8a55-522a8022d5b2	g.chr9:35560975G>A	uc003zww.3	+	10	4485	c.4230G>A	c.(4228-4230)ctG>ctA	p.L1410L	RUSC2_uc010mkq.3_Non-coding_Transcript|RUSC2_uc003zwx.4_Silent_p.L1410L	NM_014806	NP_055621	Q8N2Y8	RUSC2_HUMAN	Homo sapiens RUN and SH3 domain containing 2 (RUSC2), mRNA.	1410						cytosol				NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			CGGACTGGCTGAGCCTGGACA	0.662000													18	22					0	0	1	0	0
GAPVD1	26130	broad.mit.edu	37	9	128117063	128117063	+	Missense_Mutation	SNP	G	G	A			TCGA-A4-8515-01A-11D-2396-08	TCGA-A4-8515-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d3ff544-d2cb-4e64-8f22-6ff73447d5d8	af2ca6b1-94ef-4660-8a55-522a8022d5b2	g.chr9:128117063G>A	uc004bpp.3	+	22	3941	c.3781G>A	c.(3781-3783)Gtc>Atc	p.V1261I	GAPVD1_uc004bpq.3_Missense_Mutation_p.V1234I|GAPVD1_uc010mwx.3_Missense_Mutation_p.V1252I|GAPVD1_uc004bpr.3_Missense_Mutation_p.V1213I|GAPVD1_uc004bps.3_Missense_Mutation_p.V1207I|GAPVD1_uc004bpt.3_Missense_Mutation_p.V267I	NM_015635	NP_056450	Q14C86	GAPD1_HUMAN	Homo sapiens GTPase activating protein and VPS9 domains 1 (GAPVD1), mRNA.	1252					endocytosis|regulation of protein transport|regulation of small GTPase mediated signal transduction|signal transduction	cytosol|endosome|membrane	GTPase activating protein binding|GTPase activator activity|guanyl-nucleotide exchange factor activity			central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						CTTTACCACTGTCTGTGTGAG	0.423000													61	95					0	0	1	0	0
FAM46A	55603	broad.mit.edu	37	6	82461655	82461655	+	Missense_Mutation	SNP	C	C	A			TCGA-A4-8515-01A-11D-2396-08	TCGA-A4-8515-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d3ff544-d2cb-4e64-8f22-6ff73447d5d8	af2ca6b1-94ef-4660-8a55-522a8022d5b2	g.chr6:82461655C>A	uc003pjf.3	-	1	574	c.261G>T	c.(259-261)tgG>tgT	p.W87C	FAM46A_uc003pjg.3_Missense_Mutation_p.W68C|FAM46A_uc003pjh.1_Missense_Mutation_p.W68C	NM_017633	NP_060103	Q96IP4	FA46A_HUMAN	Homo sapiens family with sequence similarity 46, member A (FAM46A), mRNA.	68								p.G86R(1)		endometrium(2)|large_intestine(3)|lung(5)|skin(1)|urinary_tract(1)	12		all_cancers(76;6.74e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000282)|all_epithelial(107;0.0104)		BRCA - Breast invasive adenocarcinoma(397;0.0428)		GCACTTGCTCCCAGTTCAGCA	0.647000													55	55					2.17126e-26	2.72172e-26	1	1	0
MYH2	4620	broad.mit.edu	37	17	10433386	10433386	+	Silent	SNP	G	G	A			TCGA-A4-8515-01A-11D-2396-08	TCGA-A4-8515-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d3ff544-d2cb-4e64-8f22-6ff73447d5d8	af2ca6b1-94ef-4660-8a55-522a8022d5b2	g.chr17:10433386G>A	uc010coi.3	-	22	2831	c.2703C>T	c.(2701-2703)gcC>gcT	p.A901A	AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Silent_p.A901A|MYH2_uc010coj.3_Intron	NM_001100112	NP_060004	Q9UKX2	MYH2_HUMAN	Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA.	901					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.A901D(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						CCAAGCCTTCGGCTTCCTTAA	0.398000													79	160					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100681919	100681919	+	Missense_Mutation	SNP	C	C	T			TCGA-A4-8515-01A-11D-2396-08	TCGA-A4-8515-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d3ff544-d2cb-4e64-8f22-6ff73447d5d8	af2ca6b1-94ef-4660-8a55-522a8022d5b2	g.chr7:100681919C>T	uc003uxp.1	+	2	7275	c.7222C>T	c.(7222-7224)Ccg>Tcg	p.P2408S	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	2408	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	p.P2408P(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CAGCACCATGCCGGTGGTCAG	0.512000													6	778					0	0	1	0	0
LRRC37A11P	342666	broad.mit.edu	37	17	37188047	37188047	+	RNA	SNP	C	C	A			TCGA-A4-8515-01A-11D-2396-08	TCGA-A4-8515-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d3ff544-d2cb-4e64-8f22-6ff73447d5d8	af2ca6b1-94ef-4660-8a55-522a8022d5b2	g.chr17:37188047C>A	uc002hrd.1	+	0		c.1889C>A								Homo sapiens FLJ43826 protein (FLJ43826), non-coding RNA.																		AGCTCAGCATCCAACATCACC	0.507000													11	55					3.07112e-06	3.37444e-06	1	1	0
PEG3	5178	broad.mit.edu	37	19	57326548	57326548	+	Missense_Mutation	SNP	C	C	A			TCGA-A4-8515-01A-11D-2396-08	TCGA-A4-8515-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d3ff544-d2cb-4e64-8f22-6ff73447d5d8	af2ca6b1-94ef-4660-8a55-522a8022d5b2	g.chr19:57326548C>A	uc002qnu.2	-	6	3613	c.3262G>T	c.(3262-3264)Gtc>Ttc	p.V1088F	PEG3_uc010ygr.1_Intron|PEG3_uc010ygq.1_Intron|PEG3_uc002qnr.2_Intron|PEG3_uc010etp.2_Intron|PEG3_uc010ygs.1_Intron|PEG3_uc002qnq.2_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.V1059F|PEG3_uc002qnv.2_Missense_Mutation_p.V1088F|PEG3_uc002qnw.2_Missense_Mutation_p.V964F|PEG3_uc002qnx.2_Missense_Mutation_p.V962F|PEG3_uc010etr.2_Missense_Mutation_p.V1088F	NM_001146186	NP_001139657	Q9GZU2	PEG3_HUMAN	Homo sapiens paternally expressed 3 (PEG3), transcript variant 4, mRNA.	1088					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		CCTTGAATGACAGGGTCTTCA	0.517000													4	95					0.150653	0.154117	1	1	0
NCK2	8440	broad.mit.edu	37	2	106498221	106498221	+	Missense_Mutation	SNP	A	A	G			TCGA-A4-8515-01A-11D-2396-08	TCGA-A4-8515-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d3ff544-d2cb-4e64-8f22-6ff73447d5d8	af2ca6b1-94ef-4660-8a55-522a8022d5b2	g.chr2:106498221A>G	uc002tdg.3	+	3	940	c.664A>G	c.(664-666)Atg>Gtg	p.M222V	NCK2_uc002tdh.3_Intron|NCK2_uc002tdi.3_Missense_Mutation_p.M222V	NM_003581	NP_003572	O43639	NCK2_HUMAN	Homo sapiens NCK adaptor protein 2 (NCK2), transcript variant 1, mRNA.	222	SH3 3.				T cell activation|axon guidance|epidermal growth factor receptor signaling pathway|negative regulation of cell proliferation|positive regulation of T cell proliferation|positive regulation of actin filament polymerization|regulation of epidermal growth factor receptor activity|regulation of translation|signal complex assembly	cytosol|endoplasmic reticulum	cytoskeletal adaptor activity|receptor signaling complex scaffold activity			endometrium(1)|lung(3)|ovary(1)	5						GGGGGAGACCATGGAGGTGAT	0.607000													64	89					0	0	1	0	0
ARID1A	8289	broad.mit.edu	37	1	27107195	27107195	+	Nonsense_Mutation	SNP	C	C	A			TCGA-A4-8515-01A-11D-2396-08	TCGA-A4-8515-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d3ff544-d2cb-4e64-8f22-6ff73447d5d8	af2ca6b1-94ef-4660-8a55-522a8022d5b2	g.chr1:27107195C>A	uc001bmv.1	+	19	7179	c.6806C>A	c.(6805-6807)tCa>tAa	p.S2269*	ARID1A_uc001bmu.1_Nonsense_Mutation_p.S2052*|ARID1A_uc001bmx.1_Nonsense_Mutation_p.S1115*|ARID1A_uc009vsm.1_Nonsense_Mutation_p.S597*|ARID1A_uc009vsn.1_Nonsense_Mutation_p.S511*	NM_006015	NP_006006	O14497	ARI1A_HUMAN	Homo sapiens AT rich interactive domain 1A (SWI-like) (ARID1A), transcript variant 1, mRNA.	2269					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	SWI/SNF complex|nBAF complex|npBAF complex	DNA binding|protein binding	p.S2269*(2)|p.S2269L(2)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		TTGATGAACTCATTGGTTTCA	0.532000			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								41	69					9.84934e-19	1.20081e-18	1	1	0
DSC2	1824	broad.mit.edu	37	18	28660278	28660278	+	Missense_Mutation	SNP	A	A	C			TCGA-A4-8515-01A-11D-2396-08	TCGA-A4-8515-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d3ff544-d2cb-4e64-8f22-6ff73447d5d8	af2ca6b1-94ef-4660-8a55-522a8022d5b2	g.chr18:28660278A>C	uc002kwl.4	-	9	1758	c.1304T>G	c.(1303-1305)aTt>aGt	p.I435S	DSC2_uc002kwk.4_Missense_Mutation_p.I435S	NM_024422	NP_077740	Q02487	DSC2_HUMAN	Homo sapiens desmocollin 2 (DSC2), transcript variant Dsc2a, mRNA.	435	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)			AACTACACCAATTTGCAAGAT	0.378000													28	36					0	0	1	0	0
FRG1B	284802	broad.mit.edu	37	20	29628236	29628236	+	Missense_Mutation	SNP	G	G	C	rs145412486	by1000genomes	TCGA-A4-8515-01A-11D-2396-08	TCGA-A4-8515-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d3ff544-d2cb-4e64-8f22-6ff73447d5d8	af2ca6b1-94ef-4660-8a55-522a8022d5b2	g.chr20:29628236G>C	uc010ztl.1	+	2	180	c.148G>C	c.(148-150)Gct>Cct	p.A50P	FRG1B_uc002wvm.1_Non-coding_Transcript|FRG1B_uc010ztj.1_Non-coding_Transcript|FRG1B_uc010gdr.1_Non-coding_Transcript|FRG1B_uc010ztk.1_Missense_Mutation_p.A2P					Homo sapiens FSHD region gene 1 family, member B (FRG1B), non-coding RNA.									p.A80P(8)|p.L50P(1)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGGGAAAATGGCTTTGTTGGC	0.363000													5	154					0	0	1	0	0
ABCC4	10257	broad.mit.edu	37	13	95886865	95886865	+	Splice_Site	SNP	T	T	G			TCGA-A4-8515-01A-11D-2396-08	TCGA-A4-8515-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d3ff544-d2cb-4e64-8f22-6ff73447d5d8	af2ca6b1-94ef-4660-8a55-522a8022d5b2	g.chr13:95886865T>G	uc001vmd.4	-	4	650	c.531_splice	c.e4+1	p.K177_splice	ABCC4_uc010afk.3_Splice_Site_p.K177_splice|ABCC4_uc001vme.2_Splice_Site_p.K177_splice|ABCC4_uc010tih.1_Intron|ABCC4_uc001vmf.2_Splice_Site_p.K134_splice|ABCC4_uc010afl.1_Splice_Site_p.K134_splice|ABCC4_uc010afm.1_Splice_Site_p.K190_splice	NM_005845	NP_005836	O15439	MRP4_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 4 (ABCC4), transcript variant 1, mRNA.	177	ABC transmembrane type-1 1.				platelet activation|platelet degranulation	integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Cefazolin(DB01327)	GTCACTTACCTTCCGATAAAT	0.393000													17	23					0	0	1	0	0
EPB41L3	23136	broad.mit.edu	37	18	5406855	5406855	+	Missense_Mutation	SNP	T	T	C			TCGA-A4-8515-01A-11D-2396-08	TCGA-A4-8515-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d3ff544-d2cb-4e64-8f22-6ff73447d5d8	af2ca6b1-94ef-4660-8a55-522a8022d5b2	g.chr18:5406855T>C	uc002kmt.1	-	15	2356	c.2270A>G	c.(2269-2271)aAg>aGg	p.K757R	EPB41L3_uc010wzh.1_Missense_Mutation_p.K588R|EPB41L3_uc002kmu.1_Missense_Mutation_p.K576R|EPB41L3_uc010dkq.1_Missense_Mutation_p.K467R|EPB41L3_uc002kms.1_Missense_Mutation_p.K29R|EPB41L3_uc010wze.1_Missense_Mutation_p.K29R|EPB41L3_uc010wzf.1_Missense_Mutation_p.K29R|EPB41L3_uc010wzg.1_Missense_Mutation_p.K29R|EPB41L3_uc010dkr.2_Missense_Mutation_p.K149R	NM_012307	NP_036439	Q9Y2J2	E41L3_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1-like 3 (EPB41L3), mRNA.	757	Spectrin--actin-binding (Potential).				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						GGAAAGCCTCTTCTCCCATTC	0.512000													46	62					0	0	1	0	0
HLA-DQB2	3120	broad.mit.edu	37	6	32725596	32725596	+	Silent	SNP	C	C	G	rs115565146	by1000genomes	TCGA-A4-8515-01A-11D-2396-08	TCGA-A4-8515-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d3ff544-d2cb-4e64-8f22-6ff73447d5d8	af2ca6b1-94ef-4660-8a55-522a8022d5b2	g.chr6:32725596C>G	uc003obz.2	-	3	794	c.711G>C	c.(709-711)ctG>ctC	p.L237L	HLA-DQB2_uc003oby.4_Intron	NM_001198858	NP_001185787	Q5SR06	Q5SR06_HUMAN	Homo sapiens major histocompatibility complex, class II, DQ beta 2 (HLA-DQB2), mRNA.	216					antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|immune response	MHC class II protein complex|integral to membrane				endometrium(1)|kidney(1)|lung(1)|prostate(2)	5						CGAGGAAGATCAGCCCCAGCA	0.562000													3	33					0	0	1	0	0
RSPH3	83861	broad.mit.edu	37	6	159401839	159401839	+	Missense_Mutation	SNP	C	C	T			TCGA-A4-8515-01A-11D-2396-08	TCGA-A4-8515-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d3ff544-d2cb-4e64-8f22-6ff73447d5d8	af2ca6b1-94ef-4660-8a55-522a8022d5b2	g.chr6:159401839C>T	uc003qrx.3	-	5	1442	c.1252G>A	c.(1252-1254)Gat>Aat	p.D418N	RSPH3_uc010kju.3_Missense_Mutation_p.D322N	NM_031924	NP_114130	Q86UC2	RSPH3_HUMAN	Homo sapiens radial spoke 3 homolog (Chlamydomonas) (RSPH3), mRNA.	418										endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|skin(1)|stomach(7)	23		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;2.36e-16)|BRCA - Breast invasive adenocarcinoma(81;5.92e-06)		TAGCCACTATCCCTGAGGCTG	0.408000													17	24					0	0	1	0	0
CP	1356	broad.mit.edu	37	3	148895648	148895648	+	Silent	SNP	G	G	A	rs147475926	byFrequency	TCGA-A4-8515-01A-11D-2396-08	TCGA-A4-8515-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d3ff544-d2cb-4e64-8f22-6ff73447d5d8	af2ca6b1-94ef-4660-8a55-522a8022d5b2	g.chr3:148895648G>A	uc003ewy.4	-	16	3250	c.2997C>T	c.(2995-2997)caC>caT	p.H999H	CP_uc011bnr.2_Non-coding_Transcript|CP_uc003eww.4_Silent_p.H151H|CP_uc003ewx.4_Silent_p.H780H|CP_uc003ewz.3_Silent_p.H999H	NM_000096	NP_000087	P00450	CERU_HUMAN	Homo sapiens ceruloplasmin (ferroxidase) (CP), mRNA.	999	F5/8 type A 3.|Plastocyanin-like 6.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	extracellular space	chaperone binding|ferroxidase activity			breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		Drotrecogin alfa(DB00055)	AGCTATGGCCGTGAAAATGTA	0.393000													4	156					0	0	1	0	0
PTPRJ	5795	broad.mit.edu	37	11	48142761	48142761	+	Missense_Mutation	SNP	A	A	G			TCGA-A4-8515-01A-11D-2396-08	TCGA-A4-8515-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d3ff544-d2cb-4e64-8f22-6ff73447d5d8	af2ca6b1-94ef-4660-8a55-522a8022d5b2	g.chr11:48142761A>G	uc001ngp.4	+	3	914	c.559A>G	c.(559-561)Act>Gct	p.T187A	PTPRJ_uc001ngo.4_Missense_Mutation_p.T187A	NM_002843	NP_002834	Q12913	PTPRJ_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, J (PTPRJ), transcript variant 1, mRNA.	187	Fibronectin type-III 1.				contact inhibition|negative regulation of MAP kinase activity|negative regulation of T cell receptor signaling pathway|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression	cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane	beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity			breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						ATTCTCCATCACTCCAGGAAT	0.428000													19	45					0	0	1	0	0
ACE	1636	broad.mit.edu	37	17	61561775	61561775	+	Silent	SNP	G	G	C	rs137910205		TCGA-A4-8515-01A-11D-2396-08	TCGA-A4-8515-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d3ff544-d2cb-4e64-8f22-6ff73447d5d8	af2ca6b1-94ef-4660-8a55-522a8022d5b2	g.chr17:61561775G>C	uc002jau.2	+	11	1828	c.1794G>C	c.(1792-1794)ccG>ccC	p.P598P	ACE_uc010ddu.2_Silent_p.P415P|ACE_uc010wpj.2_5'Flank|ACE_uc010ddv.2_5'Flank|ACE_uc002jav.2_5'Flank|ACE_uc002jaw.2_5'Flank|ACE_uc010wpk.2_5'Flank	NM_000789	NP_000780	P12821	ACE_HUMAN	Homo sapiens angiotensin I converting enzyme (peptidyl-dipeptidase A) 1 (ACE), transcript variant 1, mRNA.	598	Peptidase M2 1.				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	ATGCCCAGCCGCTGCTCAAGT	0.657000													20	25					0	0	1	0	0
PRB4	5545	broad.mit.edu	37	12	11461501	11461501	+	Missense_Mutation	SNP	C	C	A			TCGA-A4-8515-01A-11D-2396-08	TCGA-A4-8515-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d3ff544-d2cb-4e64-8f22-6ff73447d5d8	af2ca6b1-94ef-4660-8a55-522a8022d5b2	g.chr12:11461501C>A	uc001qzf.1	-	2	450	c.416G>T	c.(415-417)gGa>gTa	p.G139V	PRB4_uc001qzt.3_Missense_Mutation_p.G139V	NM_002723	NP_002714	P10163	PRB4_HUMAN	Homo sapiens proline-rich protein BstNI subfamily 4 (PRB4), mRNA.	202	9.5 X 21 AA tandem repeats of K-P-[EQ]- [GR]-[PR]-[PR]-P-Q-G-G-N-Q-[PS]-[QH]- [RG]-[PT]-P-P-[PH]-P-G.		Missing (in allele M and allele S).			extracellular region				breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|skin(4)|upper_aerodigestive_tract(3)	30						TTCTGGCTTTCCTGGAGGAGG	0.602000										HNSCC(22;0.051)			208	273					4.4003e-140	5.67575e-140	1	1	0
SIPA1L2	57568	broad.mit.edu	37	1	232650317	232650317	+	Missense_Mutation	SNP	G	G	A			TCGA-A4-8515-01A-11D-2396-08	TCGA-A4-8515-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d3ff544-d2cb-4e64-8f22-6ff73447d5d8	af2ca6b1-94ef-4660-8a55-522a8022d5b2	g.chr1:232650317G>A	uc001hvg.3	-	0	927	c.769C>T	c.(769-771)Cgc>Tgc	p.R257C		NM_020808	NP_065859	Q9P2F8	SI1L2_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 2 (SIPA1L2), mRNA.	257					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				CCTGAGATGCGGACAAATTCT	0.502000													40	68					0	0	1	0	0
TMTC2	160335	broad.mit.edu	37	12	83290130	83290130	+	Silent	SNP	G	G	A			TCGA-A4-8515-01A-11D-2396-08	TCGA-A4-8515-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d3ff544-d2cb-4e64-8f22-6ff73447d5d8	af2ca6b1-94ef-4660-8a55-522a8022d5b2	g.chr12:83290130G>A	uc001szt.3	+	2	1620	c.1188G>A	c.(1186-1188)ctG>ctA	p.L396L	TMTC2_uc001szr.1_Silent_p.L396L|TMTC2_uc001szs.1_Silent_p.L396L|TMTC2_uc010suk.2_Silent_p.L151L	NM_152588	NP_689801	Q8N394	TMTC2_HUMAN	Homo sapiens transmembrane and tetratricopeptide repeat containing 2 (TMTC2), mRNA.	396						endoplasmic reticulum|integral to membrane	binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1)	39						TTGTTGTTCTGTCTTTATCTT	0.393000													81	94					0	0	1	0	0
SORBS2	8470	broad.mit.edu	37	4	186545386	186545386	+	Missense_Mutation	SNP	G	G	T			TCGA-A4-8515-01A-11D-2396-08	TCGA-A4-8515-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d3ff544-d2cb-4e64-8f22-6ff73447d5d8	af2ca6b1-94ef-4660-8a55-522a8022d5b2	g.chr4:186545386G>T	uc003iyg.3	-	12	1559	c.1527C>A	c.(1525-1527)ttC>ttA	p.F509L	SORBS2_uc003iyh.3_Intron|SORBS2_uc011ckw.2_Intron|SORBS2_uc003iyi.3_Intron|SORBS2_uc011ckx.2_Intron|SORBS2_uc003iyk.3_Intron|SORBS2_uc003iym.3_Missense_Mutation_p.F495L|SORBS2_uc003iyl.3_Missense_Mutation_p.F395L|SORBS2_uc003iyn.1_Intron|SORBS2_uc011cku.2_Intron|SORBS2_uc011ckv.2_Missense_Mutation_p.F299L|SORBS2_uc003iyd.3_Intron|SORBS2_uc003iye.3_Intron|SORBS2_uc003iya.3_Intron|SORBS2_uc003iyb.3_Intron|SORBS2_uc003iyc.3_Intron|SORBS2_uc003iyf.3_Intron|SORBS2_uc003iyo.1_Intron	NM_021069	NP_066547	O94875	SRBS2_HUMAN	Homo sapiens sorbin and SH3 domain containing 2 (SORBS2), transcript variant 2, mRNA.	395						Z disc|actin cytoskeleton|nucleus|perinuclear region of cytoplasm	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		TCGGGTCCGGGAAGCTATCGC	0.577000													29	36					4.22769e-11	4.82391e-11	1	1	0
WDR81	124997	broad.mit.edu	37	17	1633711	1633711	+	Silent	SNP	G	G	A			TCGA-A4-8515-01A-11D-2396-08	TCGA-A4-8515-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d3ff544-d2cb-4e64-8f22-6ff73447d5d8	af2ca6b1-94ef-4660-8a55-522a8022d5b2	g.chr17:1633711G>A	uc002ftj.2	+	1	3834	c.3705G>A	c.(3703-3705)aaG>aaA	p.K1235K	WDR81_uc002fth.2_Silent_p.K184K|WDR81_uc010vqp.1_Silent_p.K32K|WDR81_uc002fti.2_Silent_p.K8K|WDR81_uc010vqq.1_5'UTR	NM_001163809	NP_001157281	B3KXU1	B3KXU1_HUMAN	Homo sapiens WD repeat domain 81 (WDR81), transcript variant 1, mRNA.	8										cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		TGTCTGCCAAGCTCGGCCCCA	0.642000													14	48					0	0	1	0	0
ALOX15B	247	broad.mit.edu	37	17	7948982	7948982	+	Missense_Mutation	SNP	C	C	T			TCGA-A4-8515-01A-11D-2396-08	TCGA-A4-8515-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d3ff544-d2cb-4e64-8f22-6ff73447d5d8	af2ca6b1-94ef-4660-8a55-522a8022d5b2	g.chr17:7948982C>T	uc002gju.3	+	7	1294	c.1178C>T	c.(1177-1179)cCc>cTc	p.P393L	ALOX15B_uc002gjv.3_Missense_Mutation_p.P393L|ALOX15B_uc002gjw.3_Missense_Mutation_p.P393L|ALOX15B_uc010vun.2_Missense_Mutation_p.P393L|ALOX15B_uc010cnp.3_Missense_Mutation_p.P199L	NM_001141	NP_001132	O15296	LX15B_HUMAN	Homo sapiens arachidonate 15-lipoxygenase, type B (ALOX15B), transcript variant d, mRNA.	393	Lipoxygenase.				induction of apoptosis|leukotriene biosynthetic process|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of growth|prostate gland development|regulation of epithelial cell differentiation	cytoplasm	arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	24						CGTCAGCTGCCCCACTGCCAC	0.612000													32	38					0	0	1	0	0
LAG3	3902	broad.mit.edu	37	12	6886460	6886460	+	Missense_Mutation	SNP	C	C	G			TCGA-A4-8515-01A-11D-2396-08	TCGA-A4-8515-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d3ff544-d2cb-4e64-8f22-6ff73447d5d8	af2ca6b1-94ef-4660-8a55-522a8022d5b2	g.chr12:6886460C>G	uc001qqt.4	+	5	1437	c.1088C>G	c.(1087-1089)tCc>tGc	p.S363C	LAG3_uc001qqu.3_Missense_Mutation_p.S193C	NM_002286	NP_002277	P18627	LAG3_HUMAN	Homo sapiens lymphocyte-activation gene 3 (LAG3), mRNA.	363	Ig-like C2-type 3.					integral to membrane	MHC class II protein binding|antigen binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						TCACCTGGATCCCTGGGGAAG	0.517000													61	85					0	0	1	0	0
COL4A4	1286	broad.mit.edu	37	2	227872789	227872789	+	Missense_Mutation	SNP	A	A	G			TCGA-A4-8515-01A-11D-2396-08	TCGA-A4-8515-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d3ff544-d2cb-4e64-8f22-6ff73447d5d8	af2ca6b1-94ef-4660-8a55-522a8022d5b2	g.chr2:227872789A>G	uc021vxr.1	-	45	4855	c.4754T>C	c.(4753-4755)aTc>aCc	p.I1585T	COL4A4_uc021vxs.1_Missense_Mutation_p.I1582T	NM_000092	NP_000083	P53420	CO4A4_HUMAN	Homo sapiens collagen, type IV, alpha 4 (COL4A4), mRNA.	1585	Collagen IV NC1.				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)		ACATGGGGGGATGGACTGGTC	0.622000													17	29					0	0	1	0	0
FNBP4	23360	broad.mit.edu	37	11	47745663	47745663	+	Missense_Mutation	SNP	G	G	T			TCGA-A4-8515-01A-11D-2396-08	TCGA-A4-8515-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d3ff544-d2cb-4e64-8f22-6ff73447d5d8	af2ca6b1-94ef-4660-8a55-522a8022d5b2	g.chr11:47745663G>T	uc009ylv.3	-	13	2534	c.2381C>A	c.(2380-2382)aCa>aAa	p.T794K	FNBP4_uc001ngj.3_Missense_Mutation_p.T701K|FNBP4_uc001ngl.2_Non-coding_Transcript	NM_015308	NP_056123	Q8N3X1	FNBP4_HUMAN	Homo sapiens formin binding protein 4 (FNBP4), mRNA.	794			T -> A (in dbSNP:rs35040940).							NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	44						GCTAATTTCTGTAGCTTTCCT	0.428000													30	44					3.65163e-15	4.27625e-15	1	1	0
USH2A	7399	broad.mit.edu	37	1	216017693	216017693	+	Missense_Mutation	SNP	A	A	T			TCGA-A4-8515-01A-11D-2396-08	TCGA-A4-8515-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d3ff544-d2cb-4e64-8f22-6ff73447d5d8	af2ca6b1-94ef-4660-8a55-522a8022d5b2	g.chr1:216017693A>T	uc001hku.1	-	45	9588	c.9201T>A	c.(9199-9201)aaT>aaA	p.N3067K		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	3067	Fibronectin type-III 17.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ACCCAGGCACATTCATTCCAG	0.393000										HNSCC(13;0.011)			22	47					0	0	1	0	0
MYBBP1A	10514	broad.mit.edu	37	17	4445915	4445915	+	Missense_Mutation	SNP	T	T	C			TCGA-A4-8515-01A-11D-2396-08	TCGA-A4-8515-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d3ff544-d2cb-4e64-8f22-6ff73447d5d8	af2ca6b1-94ef-4660-8a55-522a8022d5b2	g.chr17:4445915T>C	uc002fxz.4	-	20	3076	c.3014A>G	c.(3013-3015)cAc>cGc	p.H1005R	MYBBP1A_uc002fyb.4_Missense_Mutation_p.H1005R|MYBBP1A_uc002fya.4_5'Flank|MYBBP1A_uc010vsa.2_Missense_Mutation_p.H47R	NM_001105538	NP_001099008	Q9BQG0	MBB1A_HUMAN	Homo sapiens MYB binding protein (P160) 1a (MYBBP1A), transcript variant 1, mRNA.	1005					nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NLS-dependent protein nuclear import complex|cytoplasm|nucleolus	DNA binding|DNA-directed DNA polymerase activity|transcription factor binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)	24						ACTCACCGGGTGCCGGGAGAA	0.627000													105	67					0	0	1	0	0
P4HA2	8974	broad.mit.edu	37	5	131546092	131546092	+	Silent	SNP	G	G	T	rs147510145		TCGA-A4-8515-01A-11D-2396-08	TCGA-A4-8515-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d3ff544-d2cb-4e64-8f22-6ff73447d5d8	af2ca6b1-94ef-4660-8a55-522a8022d5b2	g.chr5:131546092G>T	uc003kwh.3	-	5	1158	c.594C>A	c.(592-594)gcC>gcA	p.A198A	P4HA2_uc003kwg.3_Silent_p.A198A|P4HA2_uc003kwi.3_Silent_p.A198A|P4HA2_uc003kwk.3_Silent_p.A198A|P4HA2_uc003kwl.3_Silent_p.A198A|P4HA2_uc003kwj.3_Silent_p.A198A	NM_004199	NP_004190	O15460	P4HA2_HUMAN	Homo sapiens prolyl 4-hydroxylase, alpha polypeptide II (P4HA2), transcript variant 1, mRNA.	198						endoplasmic reticulum lumen	L-ascorbic acid binding|electron carrier activity|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity|protein binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		all_cancers(142;0.103)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		L-Proline(DB00172)|Succinic acid(DB00139)	CCTCCTCCCCGGCATCAAGCT	0.577000													5	250					1	1	1	1	0
CPNE1	8904	broad.mit.edu	37	20	34215310	34215310	+	Nonsense_Mutation	SNP	G	G	T			TCGA-A4-8515-01A-11D-2396-08	TCGA-A4-8515-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d3ff544-d2cb-4e64-8f22-6ff73447d5d8	af2ca6b1-94ef-4660-8a55-522a8022d5b2	g.chr20:34215310G>T	uc010zvj.2	-	13	1510	c.1143C>A	c.(1141-1143)taC>taA	p.Y381*	CPNE1_uc002xde.3_Nonsense_Mutation_p.Y352*|CPNE1_uc002xdf.3_Nonsense_Mutation_p.Y376*|CPNE1_uc002xdi.3_Nonsense_Mutation_p.Y376*|CPNE1_uc002xdj.3_Nonsense_Mutation_p.Y376*|CPNE1_uc002xdl.3_Nonsense_Mutation_p.Y376*|CPNE1_uc002xdm.3_Nonsense_Mutation_p.Y376*	NM_003915	NP_690905	Q99829	CPNE1_HUMAN	Homo sapiens copine I (CPNE1), transcript variant 3, mRNA.	376	VWFA.				lipid metabolic process|vesicle-mediated transport		calcium-dependent phospholipid binding|phosphatidylserine binding|transporter activity			breast(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	21	Lung NSC(9;0.0053)|all_lung(11;0.00785)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			GGGCTTGGCGGTAGGCATCCA	0.562000													41	47					1.03325e-14	1.19427e-14	1	1	0
FAM48B1	100130302	broad.mit.edu	37	X	24381817	24381817	+	Missense_Mutation	SNP	G	G	T			TCGA-A4-8515-01A-11D-2396-08	TCGA-A4-8515-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d3ff544-d2cb-4e64-8f22-6ff73447d5d8	af2ca6b1-94ef-4660-8a55-522a8022d5b2	g.chrX:24381817G>T	uc011mjx.2	+	0	940	c.940G>T	c.(940-942)Ggg>Tgg	p.G314W		NM_001136234	NP_001129706			Homo sapiens family with sequence similarity 48, member B1 (FAM48B1), mRNA.											breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(19)|ovary(1)|skin(1)	26						ACTTGCTAAAGGGTATCAGTC	0.537000													86	14					3.0784e-53	3.91396e-53	1	1	0
MUC3A	4584	broad.mit.edu	37	7	100609824	100609824	+	Nonsense_Mutation	SNP	A	A	T			TCGA-A4-8515-01A-11D-2396-08	TCGA-A4-8515-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d3ff544-d2cb-4e64-8f22-6ff73447d5d8	af2ca6b1-94ef-4660-8a55-522a8022d5b2	g.chr7:100609824A>T	uc003uxl.1	+	8	2964	c.2164A>T	c.(2164-2166)Aaa>Taa	p.K722*	AK096803_uc003uxm.1_5'Flank|AK096803_uc003uxn.1_Non-coding_Transcript|MUC3A_uc010lhn.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						CCAGGACAGGAAATGGTTCGA	0.682000													36	196					0	0	1	0	0
ASH1L	55870	broad.mit.edu	37	1	155324299	155324299	+	Missense_Mutation	SNP	T	T	C			TCGA-A4-8515-01A-11D-2396-08	TCGA-A4-8515-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d3ff544-d2cb-4e64-8f22-6ff73447d5d8	af2ca6b1-94ef-4660-8a55-522a8022d5b2	g.chr1:155324299T>C	uc009wqq.3	-	15	7673	c.7193A>G	c.(7192-7194)aAt>aGt	p.N2398S	ASH1L_uc001fkt.3_Missense_Mutation_p.N2393S	NM_018489	NP_060959	Q9NR48	ASH1L_HUMAN	Homo sapiens ash1 (absent, small, or homeotic)-like (Drosophila) (ASH1L), mRNA.	2398					DNA packaging|cell-cell signaling|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi apparatus|chromosome|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			GCAGATCCCATTCCAACGGGT	0.413000													6	219					0	0	1	0	0
TMCC3	57458	broad.mit.edu	37	12	94976205	94976205	+	Missense_Mutation	SNP	T	T	A			TCGA-A4-8515-01A-11D-2396-08	TCGA-A4-8515-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d3ff544-d2cb-4e64-8f22-6ff73447d5d8	af2ca6b1-94ef-4660-8a55-522a8022d5b2	g.chr12:94976205T>A	uc001tdj.2	-	1	306	c.188A>T	c.(187-189)aAg>aTg	p.K63M	TMCC3_uc001tdi.2_Missense_Mutation_p.K32M	NM_020698	NP_065749	Q9ULS5	TMCC3_HUMAN	Homo sapiens transmembrane and coiled-coil domain family 3 (TMCC3), mRNA.	63						integral to membrane				NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	29						GAGTTTGACCTTGTGGAAGTC	0.483000													58	80					0	0	1	0	0
UBC	7316	broad.mit.edu	37	17	21730916	21730916	+	Missense_Mutation	SNP	G	G	T	rs111245273	by1000genomes	TCGA-A4-8515-01A-11D-2396-08	TCGA-A4-8515-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d3ff544-d2cb-4e64-8f22-6ff73447d5d8	af2ca6b1-94ef-4660-8a55-522a8022d5b2	g.chr17:21730916G>T	uc002gyy.3	+	1	343	c.218G>T	c.(217-219)cGg>cTg	p.R73L				P0CG48	UBC_HUMAN	SubName: Full=Uncharacterized protein;	225	Ubiquitin-like 1.				DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|JNK cascade|M/G1 transition of mitotic cell cycle|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|S phase of mitotic cell cycle|T cell receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|innate immune response|mRNA metabolic process|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding	p.R73L(24)|p.R72S(1)		breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		GTCCTGCGTCGGAGAGGTGGT	0.552000													4	135					1.23904e-05	1.32861e-05	1	1	0
ECHDC1	55862	broad.mit.edu	37	6	127611395	127611395	+	Silent	SNP	T	T	C			TCGA-A4-8515-01A-11D-2396-08	TCGA-A4-8515-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d3ff544-d2cb-4e64-8f22-6ff73447d5d8	af2ca6b1-94ef-4660-8a55-522a8022d5b2	g.chr6:127611395T>C	uc003qax.3	-	5	579	c.543A>G	c.(541-543)agA>agG	p.R181R	ECHDC1_uc003qaz.4_Silent_p.R175R|ECHDC1_uc010key.3_Silent_p.R100R|ECHDC1_uc003qay.4_3'UTR|ECHDC1_uc010kez.3_3'UTR	NM_001139510	NP_001099014	Q9NTX5	ECHD1_HUMAN	Homo sapiens enoyl CoA hydratase domain containing 1 (ECHDC1), transcript variant 5, mRNA.	181							catalytic activity			large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	4				GBM - Glioblastoma multiforme(226;0.0423)|all cancers(137;0.156)		TGTGGACGAATCTGATCTTAC	0.408000													31	47					0	0	1	0	0
NAF1	92345	broad.mit.edu	37	4	164050124	164050124	+	Silent	SNP	T	T	G			TCGA-A4-8515-01A-11D-2396-08	TCGA-A4-8515-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d3ff544-d2cb-4e64-8f22-6ff73447d5d8	af2ca6b1-94ef-4660-8a55-522a8022d5b2	g.chr4:164050124T>G	uc003iqj.3	-	7	1604	c.1410A>C	c.(1408-1410)ccA>ccC	p.P470P	NAF1_uc010iqw.1_Intron	NM_138386	NP_612395	Q96HR8	NAF1_HUMAN	Homo sapiens nuclear assembly factor 1 homolog (S. cerevisiae) (NAF1), transcript variant 1, mRNA.	470	Pro-rich.				rRNA processing|snRNA pseudouridine synthesis	cytoplasm|nucleus|small nucleolar ribonucleoprotein complex	protein binding|snoRNA binding			NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(10)|ovary(2)	21	all_hematologic(180;0.166)	Prostate(90;0.109)				ggggagggggtgggggtaggg	0.522000													5	6					0	0	1	0	0
HERPUD2	64224	broad.mit.edu	37	7	35707133	35707133	+	Silent	SNP	A	A	G			TCGA-A4-8515-01A-11D-2396-08	TCGA-A4-8515-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d3ff544-d2cb-4e64-8f22-6ff73447d5d8	af2ca6b1-94ef-4660-8a55-522a8022d5b2	g.chr7:35707133A>G	uc003tes.4	-	4	1064	c.405T>C	c.(403-405)ggT>ggC	p.G135G	HERPUD2_uc003tet.3_Silent_p.G135G	NM_022373	NP_071768	Q9BSE4	HERP2_HUMAN	Homo sapiens HERPUD family member 2 (HERPUD2), mRNA.	135	Ser-rich.				response to unfolded protein	integral to membrane				kidney(3)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)	18						CTGAGGAAGAACCCACAGCTA	0.398000													102	62					0	0	1	0	0
HDAC9	9734	broad.mit.edu	37	7	18625059	18625059	+	Nonsense_Mutation	SNP	C	C	T			TCGA-A4-8515-01A-11D-2396-08	TCGA-A4-8515-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d3ff544-d2cb-4e64-8f22-6ff73447d5d8	af2ca6b1-94ef-4660-8a55-522a8022d5b2	g.chr7:18625059C>T	uc003sui.3	+	1	219	c.178C>T	c.(178-180)Cag>Tag	p.Q60*	HDAC9_uc003sue.3_Nonsense_Mutation_p.Q60*|HDAC9_uc011jyd.2_Nonsense_Mutation_p.Q60*|HDAC9_uc003suh.3_Nonsense_Mutation_p.Q60*|HDAC9_uc003suj.3_Nonsense_Mutation_p.Q60*|HDAC9_uc011jya.2_Nonsense_Mutation_p.Q102*|HDAC9_uc003sua.1_Nonsense_Mutation_p.Q79*|HDAC9_uc003sud.2_Nonsense_Mutation_p.Q60*|HDAC9_uc011jyc.2_Nonsense_Mutation_p.Q60*|HDAC9_uc011jyb.2_Nonsense_Mutation_p.Q60*|HDAC9_uc003suf.2_Nonsense_Mutation_p.Q88*|HDAC9_uc010kud.2_Nonsense_Mutation_p.Q60*|HDAC9_uc011jye.2_Nonsense_Mutation_p.Q29*|HDAC9_uc011jyf.2_Nonsense_Mutation_p.Q29*	NM_178425	NP_848512	Q9UKV0	HDAC9_HUMAN	Homo sapiens histone deacetylase 9 (HDAC9), transcript variant 5, mRNA.	60					B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	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)|histone deacetylase binding|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	GCAACAAATCCAGAAGCAGCT	0.493000													6	90					0	0	1	0	0
MASP1	5648	broad.mit.edu	37	3	187009418	187009418	+	Missense_Mutation	SNP	C	C	G			TCGA-A4-8515-01A-11D-2396-08	TCGA-A4-8515-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d3ff544-d2cb-4e64-8f22-6ff73447d5d8	af2ca6b1-94ef-4660-8a55-522a8022d5b2	g.chr3:187009418C>G	uc003frh.2	-	0	393	c.3G>C	c.(1-3)atG>atC	p.M1I	MASP1_uc003fri.3_Missense_Mutation_p.M1I|MASP1_uc003frj.3_Missense_Mutation_p.E48Q|MASP1_uc003frk.2_Missense_Mutation_p.M1I|MASP1_uc011bse.2_5'UTR|BX648496_uc021xin.1_Intron	NM_001879	NP_001870	P48740	MASP1_HUMAN	Homo sapiens mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor) (MASP1), transcript variant 1, mRNA.	1					complement activation, lectin pathway|negative regulation of complement activation|proteolysis	extracellular space	calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)		GCACGTACCTCATTTTCCTGC	0.602000													29	143					0	0	1	0	0
IQSEC1	9922	broad.mit.edu	37	3	12957106	12957106	+	Silent	SNP	C	C	T			TCGA-A4-8515-01A-11D-2396-08	TCGA-A4-8515-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d3ff544-d2cb-4e64-8f22-6ff73447d5d8	af2ca6b1-94ef-4660-8a55-522a8022d5b2	g.chr3:12957106C>T	uc003bxt.2	-	6	2199	c.2190G>A	c.(2188-2190)gtG>gtA	p.V730V	IQSEC1_uc003bxu.3_Silent_p.V608V|IQSEC1_uc011auw.1_Silent_p.V716V	NM_014869	NP_055684	Q6DN90	IQEC1_HUMAN	Homo sapiens IQ motif and Sec7 domain 1 (IQSEC1), transcript variant 2, mRNA.	730					regulation of ARF protein signal transduction	cytoplasm|nucleus	ARF guanyl-nucleotide exchange factor activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GCTTTTTCCCCACAATGAGCT	0.602000													21	61					0	0	1	0	0
RFX5	5993	broad.mit.edu	37	1	151314667	151314667	+	Missense_Mutation	SNP	G	G	T			TCGA-A4-8515-01A-11D-2396-08	TCGA-A4-8515-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d3ff544-d2cb-4e64-8f22-6ff73447d5d8	af2ca6b1-94ef-4660-8a55-522a8022d5b2	g.chr1:151314667G>T	uc001exv.1	-	10	2060	c.1846C>A	c.(1846-1848)Cca>Aca	p.P616T	RFX5_uc001exw.1_Missense_Mutation_p.P616T|RFX5_uc010pcx.1_Missense_Mutation_p.P576T	NM_001025603	NP_001020774	P48382	RFX5_HUMAN	Homo sapiens regulatory factor X, 5 (influences HLA class II expression) (RFX5), transcript variant 2, mRNA.	616						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			endometrium(3)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			CTGTATCATGGGGGTGTTGCT	0.453000													39	41					3.43241e-23	4.24285e-23	1	1	0
NAV2	89797	broad.mit.edu	37	11	19954837	19954837	+	Silent	SNP	G	G	A	rs143560669	by1000genomes	TCGA-A4-8515-01A-11D-2396-08	TCGA-A4-8515-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d3ff544-d2cb-4e64-8f22-6ff73447d5d8	af2ca6b1-94ef-4660-8a55-522a8022d5b2	g.chr11:19954837G>A	uc010rdm.2	+	7	1477	c.1116G>A	c.(1114-1116)ccG>ccA	p.P372P	NAV2_uc001mpp.3_Silent_p.P285P|NAV2_uc001mpr.4_Silent_p.P349P|NAV2_uc021qew.1_Silent_p.P349P	NM_001244963	NP_001231892	Q8IVL1	NAV2_HUMAN	Homo sapiens neuron navigator 2 (NAV2), transcript variant 5, mRNA.	372						nucleus	ATP binding|helicase activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						CGGCCATCCCGCAGCCCGGTG	0.627000													5	387					0	0	1	0	0
ARID1A	8289	broad.mit.edu	37	1	27107195	27107195	+	Nonsense_Mutation	SNP	C	C	A			TCGA-A4-8515-01A-11D-2396-08	TCGA-A4-8515-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d3ff544-d2cb-4e64-8f22-6ff73447d5d8	69feb327-b524-4151-a600-01fa48d6b67a	g.chr1:27107195C>A	uc001bmv.1	+	19	7179	c.6806C>A	c.(6805-6807)tCa>tAa	p.S2269*	ARID1A_uc001bmu.1_Nonsense_Mutation_p.S2052*|ARID1A_uc001bmx.1_Nonsense_Mutation_p.S1115*|ARID1A_uc009vsm.1_Nonsense_Mutation_p.S597*|ARID1A_uc009vsn.1_Nonsense_Mutation_p.S511*	NM_006015	NP_006006	O14497	ARI1A_HUMAN	Homo sapiens AT rich interactive domain 1A (SWI-like) (ARID1A), transcript variant 1, mRNA.	2269					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	SWI/SNF complex|nBAF complex|npBAF complex	DNA binding|protein binding	p.S2269*(2)|p.S2269L(2)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		TTGATGAACTCATTGGTTTCA	0.532000			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								41	69					9.84934e-19	1.26905e-18	1	1	0
RSPH3	83861	broad.mit.edu	37	6	159401839	159401839	+	Missense_Mutation	SNP	C	C	T			TCGA-A4-8515-01A-11D-2396-08	TCGA-A4-8515-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d3ff544-d2cb-4e64-8f22-6ff73447d5d8	69feb327-b524-4151-a600-01fa48d6b67a	g.chr6:159401839C>T	uc003qrx.3	-	5	1442	c.1252G>A	c.(1252-1254)Gat>Aat	p.D418N	RSPH3_uc010kju.3_Missense_Mutation_p.D322N	NM_031924	NP_114130	Q86UC2	RSPH3_HUMAN	Homo sapiens radial spoke 3 homolog (Chlamydomonas) (RSPH3), mRNA.	418										endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|skin(1)|stomach(7)	23		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;2.36e-16)|BRCA - Breast invasive adenocarcinoma(81;5.92e-06)		TAGCCACTATCCCTGAGGCTG	0.408000													17	24					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100681919	100681919	+	Missense_Mutation	SNP	C	C	T			TCGA-A4-8515-01A-11D-2396-08	TCGA-A4-8515-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d3ff544-d2cb-4e64-8f22-6ff73447d5d8	69feb327-b524-4151-a600-01fa48d6b67a	g.chr7:100681919C>T	uc003uxp.1	+	2	7275	c.7222C>T	c.(7222-7224)Ccg>Tcg	p.P2408S	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	2408	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	p.P2408P(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CAGCACCATGCCGGTGGTCAG	0.512000													6	778					0	0	1	0	0
CCDC110	256309	broad.mit.edu	37	4	186380257	186380257	+	Missense_Mutation	SNP	C	C	A			TCGA-A4-8515-01A-11D-2396-08	TCGA-A4-8515-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d3ff544-d2cb-4e64-8f22-6ff73447d5d8	69feb327-b524-4151-a600-01fa48d6b67a	g.chr4:186380257C>A	uc003ixu.4	-	5	1560	c.1484G>T	c.(1483-1485)aGt>aTt	p.S495I	CCDC110_uc003ixv.4_Missense_Mutation_p.S458I|CCDC110_uc011ckt.1_Missense_Mutation_p.S495I	NM_152775	NP_689988	Q8TBZ0	CC110_HUMAN	Homo sapiens coiled-coil domain containing 110 (CCDC110), transcript variant 1, mRNA.	495						nucleus				NS(1)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(9)	30		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749)		OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164)		TTCTGTTTTACTTAACTTAGA	0.284000													11	18					6.40141e-05	6.91765e-05	1	1	0
BC101079	0	broad.mit.edu	37	15	102292770	102292770	+	Nonsense_Mutation	SNP	C	C	T	rs149751844	by1000genomes	TCGA-A4-8515-01A-11D-2396-08	TCGA-A4-8515-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d3ff544-d2cb-4e64-8f22-6ff73447d5d8	69feb327-b524-4151-a600-01fa48d6b67a	g.chr15:102292770C>T	uc010usj.2	+	3	417	c.358C>T	c.(358-360)Cga>Tga	p.R120*	DQ593624_uc002bxp.4_5'Flank|DQ576888_uc021sxy.1_5'Flank|DQ596486_uc002bxz.4_5'Flank|DQ582294_uc021syc.1_5'Flank|DQ595661_uc021sye.1_5'Flank|DQ588439_uc002byd.3_5'Flank|DQ593353_uc002bye.3_5'Flank|DQ597703_uc002byf.1_5'Flank|DQ585237_uc002byg.3_5'Flank|DQ588452_uc021syg.1_5'Flank|DQ586526_uc002byi.3_5'Flank|DQ588428_uc002byk.3_5'Flank|DQ597703_uc002bym.3_5'Flank|DQ571896_uc010usm.2_5'Flank|DQ586526_uc021syh.1_5'Flank					Homo sapiens cDNA clone IMAGE:40009338.																		AGCGGCGCGACGAGATGCTGC	0.597000													4	43					0	0	1	0	0
CENPL	91687	broad.mit.edu	37	1	173772191	173772191	+	Missense_Mutation	SNP	G	G	T			TCGA-A4-8515-01A-11D-2396-08	TCGA-A4-8515-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d3ff544-d2cb-4e64-8f22-6ff73447d5d8	69feb327-b524-4151-a600-01fa48d6b67a	g.chr1:173772191G>T	uc001gjg.4	-	5	1614	c.1011C>A	c.(1009-1011)ttC>ttA	p.F337L	CENPL_uc001gje.4_Missense_Mutation_p.F291L|CENPL_uc001gjf.4_Missense_Mutation_p.F291L	NM_001127181	NP_001120653	Q8N0S6	CENPL_HUMAN	Homo sapiens centromere protein L (CENPL), transcript variant 1, mRNA.	291					mitotic prometaphase	chromosome, centromeric region|cytosol|nucleus				breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(3)	11						AATGTCTATGGAAATGTGAAT	0.393000													7	66					0.00307968	0.00322404	1	1	0
FNBP4	23360	broad.mit.edu	37	11	47745663	47745663	+	Missense_Mutation	SNP	G	G	T			TCGA-A4-8515-01A-11D-2396-08	TCGA-A4-8515-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d3ff544-d2cb-4e64-8f22-6ff73447d5d8	69feb327-b524-4151-a600-01fa48d6b67a	g.chr11:47745663G>T	uc009ylv.3	-	13	2534	c.2381C>A	c.(2380-2382)aCa>aAa	p.T794K	FNBP4_uc001ngj.3_Missense_Mutation_p.T701K|FNBP4_uc001ngl.2_Non-coding_Transcript	NM_015308	NP_056123	Q8N3X1	FNBP4_HUMAN	Homo sapiens formin binding protein 4 (FNBP4), mRNA.	794			T -> A (in dbSNP:rs35040940).							NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	44						GCTAATTTCTGTAGCTTTCCT	0.428000													30	44					3.65163e-15	4.53072e-15	1	1	0
ABCC4	10257	broad.mit.edu	37	13	95886865	95886865	+	Splice_Site	SNP	T	T	G			TCGA-A4-8515-01A-11D-2396-08	TCGA-A4-8515-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d3ff544-d2cb-4e64-8f22-6ff73447d5d8	69feb327-b524-4151-a600-01fa48d6b67a	g.chr13:95886865T>G	uc001vmd.4	-	4	650	c.531_splice	c.e4+1	p.K177_splice	ABCC4_uc010afk.3_Splice_Site_p.K177_splice|ABCC4_uc001vme.2_Splice_Site_p.K177_splice|ABCC4_uc010tih.1_Intron|ABCC4_uc001vmf.2_Splice_Site_p.K134_splice|ABCC4_uc010afl.1_Splice_Site_p.K134_splice|ABCC4_uc010afm.1_Splice_Site_p.K190_splice	NM_005845	NP_005836	O15439	MRP4_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 4 (ABCC4), transcript variant 1, mRNA.	177	ABC transmembrane type-1 1.				platelet activation|platelet degranulation	integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Cefazolin(DB01327)	GTCACTTACCTTCCGATAAAT	0.393000													17	23					0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	216017693	216017693	+	Missense_Mutation	SNP	A	A	T			TCGA-A4-8515-01A-11D-2396-08	TCGA-A4-8515-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d3ff544-d2cb-4e64-8f22-6ff73447d5d8	69feb327-b524-4151-a600-01fa48d6b67a	g.chr1:216017693A>T	uc001hku.1	-	45	9588	c.9201T>A	c.(9199-9201)aaT>aaA	p.N3067K		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	3067	Fibronectin type-III 17.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ACCCAGGCACATTCATTCCAG	0.393000										HNSCC(13;0.011)			22	47					0	0	1	0	0
HLA-DQB2	3120	broad.mit.edu	37	6	32725596	32725596	+	Silent	SNP	C	C	G	rs115565146	by1000genomes	TCGA-A4-8515-01A-11D-2396-08	TCGA-A4-8515-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d3ff544-d2cb-4e64-8f22-6ff73447d5d8	69feb327-b524-4151-a600-01fa48d6b67a	g.chr6:32725596C>G	uc003obz.2	-	3	794	c.711G>C	c.(709-711)ctG>ctC	p.L237L	HLA-DQB2_uc003oby.4_Intron	NM_001198858	NP_001185787	Q5SR06	Q5SR06_HUMAN	Homo sapiens major histocompatibility complex, class II, DQ beta 2 (HLA-DQB2), mRNA.	216					antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|immune response	MHC class II protein complex|integral to membrane				endometrium(1)|kidney(1)|lung(1)|prostate(2)	5						CGAGGAAGATCAGCCCCAGCA	0.562000													3	33					0	0	1	0	0
UGT2B10	7365	broad.mit.edu	37	4	69874742	69874742	+	Silent	SNP	G	G	A	rs3966081		TCGA-A4-8515-01A-11D-2396-08	TCGA-A4-8515-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d3ff544-d2cb-4e64-8f22-6ff73447d5d8	69feb327-b524-4151-a600-01fa48d6b67a	g.chr4:69874742G>A	uc011cao.1	-	6	1134	c.1008C>T	c.(1006-1008)taC>taT	p.Y336Y	UGT2B10_uc011can.1_Silent_p.Y252Y			P36537	UDB10_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B10 (UGT2B10), transcript variant 1, mRNA.	380					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						AGATTGTCTCGTAGATGCCAT	0.403000													4	159					0	0	1	0	0
GOLGA4	2803	broad.mit.edu	37	3	37369907	37369907	+	Splice_Site	SNP	A	A	G			TCGA-A4-8515-01A-11D-2396-08	TCGA-A4-8515-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d3ff544-d2cb-4e64-8f22-6ff73447d5d8	69feb327-b524-4151-a600-01fa48d6b67a	g.chr3:37369907A>G	uc003cgv.3	+	15	6300	c.5940_splice	c.e15-1	p.K1980_splice	GOLGA4_uc003cgw.3_Splice_Site_p.K2002_splice|GOLGA4_uc010hgs.3_Intron|GOLGA4_uc003cgx.3_Splice_Site_p.K1861_splice	NM_002078	NP_002069	Q13439	GOGA4_HUMAN	Homo sapiens golgin A4 (GOLGA4), transcript variant 2, mRNA.	1980	Glu-rich.				Golgi to plasma membrane protein transport	Golgi membrane|trans-Golgi network	protein binding			NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						TATTACTCAGACAGGAGCAGG	0.413000													7	160					0	0	1	0	0
ROMO1	140823	broad.mit.edu	37	20	34288799	34288799	+	Missense_Mutation	SNP	A	A	G			TCGA-A4-8515-01A-11D-2396-08	TCGA-A4-8515-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d3ff544-d2cb-4e64-8f22-6ff73447d5d8	69feb327-b524-4151-a600-01fa48d6b67a	g.chr20:34288799A>G	uc002xdy.3	+	2	358	c.211A>G	c.(211-213)Atg>Gtg	p.M71V	NFS1_uc002xdt.2_5'Flank|NFS1_uc010zvl.2_5'Flank|NFS1_uc010zvk.2_5'Flank|NFS1_uc002xdw.2_5'Flank|NFS1_uc002xdx.3_5'Flank|ROMO1_uc010gfm.3_Missense_Mutation_p.M71V	NM_080748	NP_542786	P60602	ROMO1_HUMAN	Homo sapiens reactive oxygen species modulator 1 (ROMO1), nuclear gene encoding mitochondrial protein, mRNA.	71					cellular response to reactive oxygen species|positive regulation of cell proliferation|positive regulation of reactive oxygen species metabolic process|replicative cell aging	integral to membrane|mitochondrial membrane				cervix(1)	1						TGGCACATTCATGGCCATTGG	0.517000													45	65					0	0	1	0	0
P4HA2	8974	broad.mit.edu	37	5	131546092	131546092	+	Silent	SNP	G	G	T	rs147510145		TCGA-A4-8515-01A-11D-2396-08	TCGA-A4-8515-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d3ff544-d2cb-4e64-8f22-6ff73447d5d8	69feb327-b524-4151-a600-01fa48d6b67a	g.chr5:131546092G>T	uc003kwh.3	-	5	1158	c.594C>A	c.(592-594)gcC>gcA	p.A198A	P4HA2_uc003kwg.3_Silent_p.A198A|P4HA2_uc003kwi.3_Silent_p.A198A|P4HA2_uc003kwk.3_Silent_p.A198A|P4HA2_uc003kwl.3_Silent_p.A198A|P4HA2_uc003kwj.3_Silent_p.A198A	NM_004199	NP_004190	O15460	P4HA2_HUMAN	Homo sapiens prolyl 4-hydroxylase, alpha polypeptide II (P4HA2), transcript variant 1, mRNA.	198						endoplasmic reticulum lumen	L-ascorbic acid binding|electron carrier activity|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity|protein binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		all_cancers(142;0.103)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		L-Proline(DB00172)|Succinic acid(DB00139)	CCTCCTCCCCGGCATCAAGCT	0.577000													5	250					1	1	1	1	0
MUC3A	4584	broad.mit.edu	37	7	100609824	100609824	+	Nonsense_Mutation	SNP	A	A	T			TCGA-A4-8515-01A-11D-2396-08	TCGA-A4-8515-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d3ff544-d2cb-4e64-8f22-6ff73447d5d8	69feb327-b524-4151-a600-01fa48d6b67a	g.chr7:100609824A>T	uc003uxl.1	+	8	2964	c.2164A>T	c.(2164-2166)Aaa>Taa	p.K722*	AK096803_uc003uxm.1_5'Flank|AK096803_uc003uxn.1_Non-coding_Transcript|MUC3A_uc010lhn.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						CCAGGACAGGAAATGGTTCGA	0.682000													36	196					0	0	1	0	0
ASH1L	55870	broad.mit.edu	37	1	155324299	155324299	+	Missense_Mutation	SNP	T	T	C			TCGA-A4-8515-01A-11D-2396-08	TCGA-A4-8515-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d3ff544-d2cb-4e64-8f22-6ff73447d5d8	69feb327-b524-4151-a600-01fa48d6b67a	g.chr1:155324299T>C	uc009wqq.3	-	15	7673	c.7193A>G	c.(7192-7194)aAt>aGt	p.N2398S	ASH1L_uc001fkt.3_Missense_Mutation_p.N2393S	NM_018489	NP_060959	Q9NR48	ASH1L_HUMAN	Homo sapiens ash1 (absent, small, or homeotic)-like (Drosophila) (ASH1L), mRNA.	2398					DNA packaging|cell-cell signaling|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi apparatus|chromosome|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			GCAGATCCCATTCCAACGGGT	0.413000													6	219					0	0	1	0	0
FNBP4	23360	broad.mit.edu	37	11	47745665	47745665	+	Silent	SNP	A	A	G			TCGA-A4-8515-01A-11D-2396-08	TCGA-A4-8515-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d3ff544-d2cb-4e64-8f22-6ff73447d5d8	69feb327-b524-4151-a600-01fa48d6b67a	g.chr11:47745665A>G	uc009ylv.3	-	13	2532	c.2379T>C	c.(2377-2379)gcT>gcC	p.A793A	FNBP4_uc001ngj.3_Silent_p.A700A|FNBP4_uc001ngl.2_Non-coding_Transcript	NM_015308	NP_056123	Q8N3X1	FNBP4_HUMAN	Homo sapiens formin binding protein 4 (FNBP4), mRNA.	793										NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	44						TAATTTCTGTAGCTTTCCTCT	0.428000													29	41					0	0	1	0	0
ICAM5	7087	broad.mit.edu	37	19	10403449	10403449	+	Missense_Mutation	SNP	A	A	G			TCGA-A4-8515-01A-11D-2396-08	TCGA-A4-8515-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d3ff544-d2cb-4e64-8f22-6ff73447d5d8	69feb327-b524-4151-a600-01fa48d6b67a	g.chr19:10403449A>G	uc002mnu.4	+	4	1188	c.1123A>G	c.(1123-1125)Aac>Gac	p.N375D	ICAM5_uc002mnv.4_Missense_Mutation_p.N250D	NM_003259	NP_003250	Q9UMF0	ICAM5_HUMAN	Homo sapiens intercellular adhesion molecule 5, telencephalin (ICAM5), mRNA.	375	Ig-like C2-type 4.				cell-cell adhesion	integral to plasma membrane				breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)			TGCCACCGAGAACGACGACAG	0.622000													8	45					0	0	1	0	0
PELI1	57162	broad.mit.edu	37	2	64323347	64323347	+	Missense_Mutation	SNP	G	G	A			TCGA-A4-8515-01A-11D-2396-08	TCGA-A4-8515-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d3ff544-d2cb-4e64-8f22-6ff73447d5d8	69feb327-b524-4151-a600-01fa48d6b67a	g.chr2:64323347G>A	uc002scs.4	-	4	4641	c.602C>T	c.(601-603)tCc>tTc	p.S201F	PELI1_uc002sct.4_Missense_Mutation_p.S201F|PELI1_uc002scr.4_Missense_Mutation_p.S22F	NM_020651	NP_065702	Q96FA3	PELI1_HUMAN	Homo sapiens pellino homolog 1 (Drosophila) (PELI1), mRNA.	201					MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|innate immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol		p.S201Y(2)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|urinary_tract(1)	19						TCCAGGCTTGGAGTCTTCTGT	0.453000													42	74					0	0	1	0	0
CP	1356	broad.mit.edu	37	3	148895648	148895648	+	Silent	SNP	G	G	A	rs147475926	byFrequency	TCGA-A4-8515-01A-11D-2396-08	TCGA-A4-8515-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d3ff544-d2cb-4e64-8f22-6ff73447d5d8	69feb327-b524-4151-a600-01fa48d6b67a	g.chr3:148895648G>A	uc003ewy.4	-	16	3250	c.2997C>T	c.(2995-2997)caC>caT	p.H999H	CP_uc011bnr.2_Non-coding_Transcript|CP_uc003eww.4_Silent_p.H151H|CP_uc003ewx.4_Silent_p.H780H|CP_uc003ewz.3_Silent_p.H999H	NM_000096	NP_000087	P00450	CERU_HUMAN	Homo sapiens ceruloplasmin (ferroxidase) (CP), mRNA.	999	F5/8 type A 3.|Plastocyanin-like 6.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	extracellular space	chaperone binding|ferroxidase activity			breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		Drotrecogin alfa(DB00055)	AGCTATGGCCGTGAAAATGTA	0.393000													4	156					0	0	1	0	0
NCAM1	4684	broad.mit.edu	37	11	113103986	113103986	+	Missense_Mutation	SNP	G	G	T			TCGA-A4-8515-01A-11D-2396-08	TCGA-A4-8515-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d3ff544-d2cb-4e64-8f22-6ff73447d5d8	69feb327-b524-4151-a600-01fa48d6b67a	g.chr11:113103986G>T	uc021qqp.1	+	13	2084	c.1712G>T	c.(1711-1713)tGg>tTg	p.W571L	NCAM1_uc001pnp.3_Missense_Mutation_p.W535L|NCAM1_uc021qqo.1_Missense_Mutation_p.W535L|NCAM1_uc001pnq.3_Missense_Mutation_p.W545L|NCAM1_uc001pnr.3_Missense_Mutation_p.W535L	NM_001242607	NP_001229536	P13591	NCAM1_HUMAN	Homo sapiens neural cell adhesion molecule 1 (NCAM1), transcript variant 5, mRNA.	547	Fibronectin type-III 1.				axon guidance|interferon-gamma-mediated signaling pathway	Golgi membrane|anchored to membrane|extracellular region|integral to membrane		p.V570I(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		AAAGCTGAGTGGAGAGCAGTT	0.532000													15	24					6.72482e-11	7.90462e-11	1	1	0
MDN1	23195	broad.mit.edu	37	6	90411386	90411386	+	Missense_Mutation	SNP	T	T	A			TCGA-A4-8515-01A-11D-2396-08	TCGA-A4-8515-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d3ff544-d2cb-4e64-8f22-6ff73447d5d8	69feb327-b524-4151-a600-01fa48d6b67a	g.chr6:90411386T>A	uc003pnn.1	-	54	8434	c.8318A>T	c.(8317-8319)gAa>gTa	p.E2773V		NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	Homo sapiens MDN1, midasin homolog (yeast) (MDN1), mRNA.	2773					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		AGTCTGAACTTCTTTGTAATA	0.418000													22	24					0	0	1	0	0
PTPRJ	5795	broad.mit.edu	37	11	48142761	48142761	+	Missense_Mutation	SNP	A	A	G			TCGA-A4-8515-01A-11D-2396-08	TCGA-A4-8515-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d3ff544-d2cb-4e64-8f22-6ff73447d5d8	69feb327-b524-4151-a600-01fa48d6b67a	g.chr11:48142761A>G	uc001ngp.4	+	3	914	c.559A>G	c.(559-561)Act>Gct	p.T187A	PTPRJ_uc001ngo.4_Missense_Mutation_p.T187A	NM_002843	NP_002834	Q12913	PTPRJ_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, J (PTPRJ), transcript variant 1, mRNA.	187	Fibronectin type-III 1.				contact inhibition|negative regulation of MAP kinase activity|negative regulation of T cell receptor signaling pathway|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression	cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane	beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity			breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						ATTCTCCATCACTCCAGGAAT	0.428000													19	45					0	0	1	0	0
NSMAF	8439	broad.mit.edu	37	8	59498243	59498243	+	Missense_Mutation	SNP	G	G	T			TCGA-A4-8515-01A-11D-2396-08	TCGA-A4-8515-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d3ff544-d2cb-4e64-8f22-6ff73447d5d8	69feb327-b524-4151-a600-01fa48d6b67a	g.chr8:59498243G>T	uc011lee.2	-	29	2781	c.2720C>A	c.(2719-2721)gCa>gAa	p.A907E	NSMAF_uc003xtt.3_Missense_Mutation_p.A876E	NM_001144772	NP_001138244	Q92636	FAN_HUMAN	Homo sapiens neutral sphingomyelinase (N-SMase) activation associated factor (NSMAF), transcript variant 2, mRNA.	876					ceramide metabolic process	cytoplasm|soluble fraction	protein binding|receptor signaling protein activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	38		all_lung(136;0.174)|Lung NSC(129;0.2)				ACTGATTTTTGCTCCAAGGAG	0.448000													4	109					1.23904e-05	1.36091e-05	1	1	0
ACE	1636	broad.mit.edu	37	17	61561775	61561775	+	Silent	SNP	G	G	C	rs137910205		TCGA-A4-8515-01A-11D-2396-08	TCGA-A4-8515-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d3ff544-d2cb-4e64-8f22-6ff73447d5d8	69feb327-b524-4151-a600-01fa48d6b67a	g.chr17:61561775G>C	uc002jau.2	+	11	1828	c.1794G>C	c.(1792-1794)ccG>ccC	p.P598P	ACE_uc010ddu.2_Silent_p.P415P|ACE_uc010wpj.2_5'Flank|ACE_uc010ddv.2_5'Flank|ACE_uc002jav.2_5'Flank|ACE_uc002jaw.2_5'Flank|ACE_uc010wpk.2_5'Flank	NM_000789	NP_000780	P12821	ACE_HUMAN	Homo sapiens angiotensin I converting enzyme (peptidyl-dipeptidase A) 1 (ACE), transcript variant 1, mRNA.	598	Peptidase M2 1.				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	ATGCCCAGCCGCTGCTCAAGT	0.657000													20	25					0	0	1	0	0
SLC6A10P	386757	broad.mit.edu	37	16	32890622	32890622	+	Missense_Mutation	SNP	T	T	G			TCGA-A4-8515-01A-11D-2396-08	TCGA-A4-8515-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d3ff544-d2cb-4e64-8f22-6ff73447d5d8	69feb327-b524-4151-a600-01fa48d6b67a	g.chr16:32890622T>G	uc002edh.1	-	4	440	c.264A>C	c.(262-264)aaA>aaC	p.K88N	SLC6A10P_uc002edi.1_Non-coding_Transcript					Homo sapiens solute carrier family 6 (neurotransmitter transporter, creatine), member 10, pseudogene (SLC6A10P), non-coding RNA.																		CGTTGGTGTTTTTGTAGACCA	0.617000													3	20					0	0	1	0	0
ZNF99	7652	broad.mit.edu	37	19	22940575	22940575	+	Silent	SNP	T	T	C			TCGA-A4-8515-01A-11D-2396-08	TCGA-A4-8515-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d3ff544-d2cb-4e64-8f22-6ff73447d5d8	69feb327-b524-4151-a600-01fa48d6b67a	g.chr19:22940575T>C	uc021urt.1	-	3	2291	c.2136A>G	c.(2134-2136)aaA>aaG	p.K712K		NM_001080409	NP_001073878			Homo sapiens zinc finger protein 99 (ZNF99), mRNA.									p.K621K(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				GGCTAAAAGCTTTGCCACATT	0.378000													3	66					0	0	1	0	0
CPNE1	8904	broad.mit.edu	37	20	34215310	34215310	+	Nonsense_Mutation	SNP	G	G	T			TCGA-A4-8515-01A-11D-2396-08	TCGA-A4-8515-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d3ff544-d2cb-4e64-8f22-6ff73447d5d8	69feb327-b524-4151-a600-01fa48d6b67a	g.chr20:34215310G>T	uc010zvj.2	-	13	1510	c.1143C>A	c.(1141-1143)taC>taA	p.Y381*	CPNE1_uc002xde.3_Nonsense_Mutation_p.Y352*|CPNE1_uc002xdf.3_Nonsense_Mutation_p.Y376*|CPNE1_uc002xdi.3_Nonsense_Mutation_p.Y376*|CPNE1_uc002xdj.3_Nonsense_Mutation_p.Y376*|CPNE1_uc002xdl.3_Nonsense_Mutation_p.Y376*|CPNE1_uc002xdm.3_Nonsense_Mutation_p.Y376*	NM_003915	NP_690905	Q99829	CPNE1_HUMAN	Homo sapiens copine I (CPNE1), transcript variant 3, mRNA.	376	VWFA.				lipid metabolic process|vesicle-mediated transport		calcium-dependent phospholipid binding|phosphatidylserine binding|transporter activity			breast(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	21	Lung NSC(9;0.0053)|all_lung(11;0.00785)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			GGGCTTGGCGGTAGGCATCCA	0.562000													41	47					1.03325e-14	1.25868e-14	1	1	0
WDR81	124997	broad.mit.edu	37	17	1633711	1633711	+	Silent	SNP	G	G	A			TCGA-A4-8515-01A-11D-2396-08	TCGA-A4-8515-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d3ff544-d2cb-4e64-8f22-6ff73447d5d8	69feb327-b524-4151-a600-01fa48d6b67a	g.chr17:1633711G>A	uc002ftj.2	+	1	3834	c.3705G>A	c.(3703-3705)aaG>aaA	p.K1235K	WDR81_uc002fth.2_Silent_p.K184K|WDR81_uc010vqp.1_Silent_p.K32K|WDR81_uc002fti.2_Silent_p.K8K|WDR81_uc010vqq.1_5'UTR	NM_001163809	NP_001157281	B3KXU1	B3KXU1_HUMAN	Homo sapiens WD repeat domain 81 (WDR81), transcript variant 1, mRNA.	8										cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		TGTCTGCCAAGCTCGGCCCCA	0.642000													14	48					0	0	1	0	0
LAG3	3902	broad.mit.edu	37	12	6886460	6886460	+	Missense_Mutation	SNP	C	C	G			TCGA-A4-8515-01A-11D-2396-08	TCGA-A4-8515-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d3ff544-d2cb-4e64-8f22-6ff73447d5d8	69feb327-b524-4151-a600-01fa48d6b67a	g.chr12:6886460C>G	uc001qqt.4	+	5	1437	c.1088C>G	c.(1087-1089)tCc>tGc	p.S363C	LAG3_uc001qqu.3_Missense_Mutation_p.S193C	NM_002286	NP_002277	P18627	LAG3_HUMAN	Homo sapiens lymphocyte-activation gene 3 (LAG3), mRNA.	363	Ig-like C2-type 3.					integral to membrane	MHC class II protein binding|antigen binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						TCACCTGGATCCCTGGGGAAG	0.517000													61	85					0	0	1	0	0
TMCC3	57458	broad.mit.edu	37	12	94976205	94976205	+	Missense_Mutation	SNP	T	T	A			TCGA-A4-8515-01A-11D-2396-08	TCGA-A4-8515-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d3ff544-d2cb-4e64-8f22-6ff73447d5d8	69feb327-b524-4151-a600-01fa48d6b67a	g.chr12:94976205T>A	uc001tdj.2	-	1	306	c.188A>T	c.(187-189)aAg>aTg	p.K63M	TMCC3_uc001tdi.2_Missense_Mutation_p.K32M	NM_020698	NP_065749	Q9ULS5	TMCC3_HUMAN	Homo sapiens transmembrane and coiled-coil domain family 3 (TMCC3), mRNA.	63						integral to membrane				NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	29						GAGTTTGACCTTGTGGAAGTC	0.483000													58	80					0	0	1	0	0
TRH	7200	broad.mit.edu	37	3	129695840	129695840	+	Silent	SNP	G	G	A			TCGA-A4-8515-01A-11D-2396-08	TCGA-A4-8515-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d3ff544-d2cb-4e64-8f22-6ff73447d5d8	69feb327-b524-4151-a600-01fa48d6b67a	g.chr3:129695840G>A	uc003enc.3	+	2	1071	c.510G>A	c.(508-510)gaG>gaA	p.E170E		NM_007117	NP_009048	P20396	TRH_HUMAN	Homo sapiens thyrotropin-releasing hormone (TRH), mRNA.	170					cell-cell signaling|hormone-mediated signaling pathway	extracellular region|soluble fraction	neuropeptide hormone activity|thyrotropin-releasing hormone activity	p.E170E(2)		NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)	14						Gggaagaagaggaggaggagg	0.642000													4	117					0	0	1	0	0
PRAMEF11	440560	broad.mit.edu	37	1	12887612	12887612	+	Missense_Mutation	SNP	T	T	C	rs60558629		TCGA-A4-8515-01A-11D-2396-08	TCGA-A4-8515-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d3ff544-d2cb-4e64-8f22-6ff73447d5d8	69feb327-b524-4151-a600-01fa48d6b67a	g.chr1:12887612T>C	uc001auk.2	-	2	441	c.245A>G	c.(244-246)cAt>cGt	p.H82R		NM_001146344	NP_001139816	O60813	PRA11_HUMAN	Homo sapiens PRAME family member 11 (PRAMEF11), mRNA.	82								p.H82R(2)		NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						GAAGCACCCATGGGCCATAGC	0.488000													5	211					0	0	1	0	0
RUSC2	9853	broad.mit.edu	37	9	35560975	35560975	+	Silent	SNP	G	G	A			TCGA-A4-8515-01A-11D-2396-08	TCGA-A4-8515-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d3ff544-d2cb-4e64-8f22-6ff73447d5d8	69feb327-b524-4151-a600-01fa48d6b67a	g.chr9:35560975G>A	uc003zww.3	+	10	4485	c.4230G>A	c.(4228-4230)ctG>ctA	p.L1410L	RUSC2_uc010mkq.3_Non-coding_Transcript|RUSC2_uc003zwx.4_Silent_p.L1410L	NM_014806	NP_055621	Q8N2Y8	RUSC2_HUMAN	Homo sapiens RUN and SH3 domain containing 2 (RUSC2), mRNA.	1410						cytosol				NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			CGGACTGGCTGAGCCTGGACA	0.662000													18	22					0	0	1	0	0
TUBA3C	7278	broad.mit.edu	37	13	19751462	19751462	+	Missense_Mutation	SNP	G	G	T			TCGA-A4-8515-01A-11D-2396-08	TCGA-A4-8515-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d3ff544-d2cb-4e64-8f22-6ff73447d5d8	69feb327-b524-4151-a600-01fa48d6b67a	g.chr13:19751462G>T	uc009zzj.3	-	3	766	c.661C>A	c.(661-663)Cgt>Agt	p.R221S		NM_006001	NP_525125	Q13748	TBA3C_HUMAN	Homo sapiens tubulin, alpha 3c (TUBA3C), mRNA.	221					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		TACGTGGGACGCTCGATGTCC	0.562000													6	205					8.12818e-05	8.64426e-05	1	1	0
DSC2	1824	broad.mit.edu	37	18	28660278	28660278	+	Missense_Mutation	SNP	A	A	C			TCGA-A4-8515-01A-11D-2396-08	TCGA-A4-8515-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d3ff544-d2cb-4e64-8f22-6ff73447d5d8	69feb327-b524-4151-a600-01fa48d6b67a	g.chr18:28660278A>C	uc002kwl.4	-	9	1758	c.1304T>G	c.(1303-1305)aTt>aGt	p.I435S	DSC2_uc002kwk.4_Missense_Mutation_p.I435S	NM_024422	NP_077740	Q02487	DSC2_HUMAN	Homo sapiens desmocollin 2 (DSC2), transcript variant Dsc2a, mRNA.	435	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)			AACTACACCAATTTGCAAGAT	0.378000													28	36					0	0	1	0	0
ABCC4	10257	broad.mit.edu	37	13	95886864	95886864	+	Splice_Site	SNP	C	C	A			TCGA-A4-8515-01A-11D-2396-08	TCGA-A4-8515-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d3ff544-d2cb-4e64-8f22-6ff73447d5d8	69feb327-b524-4151-a600-01fa48d6b67a	g.chr13:95886864C>A	uc001vmd.4	-	4	650	c.531_splice	c.e4+1	p.K177_splice	ABCC4_uc010afk.3_Splice_Site_p.K177_splice|ABCC4_uc001vme.2_Splice_Site_p.K177_splice|ABCC4_uc010tih.1_Intron|ABCC4_uc001vmf.2_Splice_Site_p.K134_splice|ABCC4_uc010afl.1_Splice_Site_p.K134_splice|ABCC4_uc010afm.1_Splice_Site_p.K190_splice	NM_005845	NP_005836	O15439	MRP4_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 4 (ABCC4), transcript variant 1, mRNA.	177	ABC transmembrane type-1 1.				platelet activation|platelet degranulation	integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Cefazolin(DB01327)	TGTCACTTACCTTCCGATAAA	0.393000													16	21					3.32936e-07	3.84598e-07	1	1	0
ACSM1	116285	broad.mit.edu	37	16	20682868	20682868	+	Missense_Mutation	SNP	G	G	T			TCGA-A4-8515-01A-11D-2396-08	TCGA-A4-8515-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d3ff544-d2cb-4e64-8f22-6ff73447d5d8	69feb327-b524-4151-a600-01fa48d6b67a	g.chr16:20682868G>T	uc002dhm.1	-	3	805	c.737C>A	c.(736-738)cCc>cAc	p.P246H	ACSM1_uc002dhn.1_Non-coding_Transcript|ACSM1_uc010bwg.1_Missense_Mutation_p.P246H	NM_052956	NP_443188	Q08AH1	ACSM1_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 1 (ACSM1), mRNA.	246					benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process	mitochondrial matrix	ATP binding|GTP binding|acyl-CoA ligase activity|butyrate-CoA ligase activity|metal ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						TGGGAAGGAGGGTTGTAAGGC	0.527000													33	68					1.22384e-17	1.54711e-17	1	1	0
SORBS2	8470	broad.mit.edu	37	4	186545386	186545386	+	Missense_Mutation	SNP	G	G	T			TCGA-A4-8515-01A-11D-2396-08	TCGA-A4-8515-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d3ff544-d2cb-4e64-8f22-6ff73447d5d8	69feb327-b524-4151-a600-01fa48d6b67a	g.chr4:186545386G>T	uc003iyg.3	-	12	1559	c.1527C>A	c.(1525-1527)ttC>ttA	p.F509L	SORBS2_uc003iyh.3_Intron|SORBS2_uc011ckw.2_Intron|SORBS2_uc003iyi.3_Intron|SORBS2_uc011ckx.2_Intron|SORBS2_uc003iyk.3_Intron|SORBS2_uc003iym.3_Missense_Mutation_p.F495L|SORBS2_uc003iyl.3_Missense_Mutation_p.F395L|SORBS2_uc003iyn.1_Intron|SORBS2_uc011cku.2_Intron|SORBS2_uc011ckv.2_Missense_Mutation_p.F299L|SORBS2_uc003iyd.3_Intron|SORBS2_uc003iye.3_Intron|SORBS2_uc003iya.3_Intron|SORBS2_uc003iyb.3_Intron|SORBS2_uc003iyc.3_Intron|SORBS2_uc003iyf.3_Intron|SORBS2_uc003iyo.1_Intron	NM_021069	NP_066547	O94875	SRBS2_HUMAN	Homo sapiens sorbin and SH3 domain containing 2 (SORBS2), transcript variant 2, mRNA.	395						Z disc|actin cytoskeleton|nucleus|perinuclear region of cytoplasm	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		TCGGGTCCGGGAAGCTATCGC	0.577000													29	36					4.22769e-11	5.05813e-11	1	1	0
MTRR	4552	broad.mit.edu	37	5	7886796	7886796	+	Missense_Mutation	SNP	A	A	G			TCGA-A4-8515-01A-11D-2396-08	TCGA-A4-8515-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d3ff544-d2cb-4e64-8f22-6ff73447d5d8	69feb327-b524-4151-a600-01fa48d6b67a	g.chr5:7886796A>G	uc003jed.3	+	7	1237	c.1207A>G	c.(1207-1209)Atc>Gtc	p.I403V	MTRR_uc003jee.4_Missense_Mutation_p.I376V|MTRR_uc003jef.4_Non-coding_Transcript|MTRR_uc003jeg.4_Non-coding_Transcript|MTRR_uc010ito.3_Intron	NM_024010	NP_076915	Q9UBK8	MTRR_HUMAN	Homo sapiens 5-methyltetrahydrofolate-homocysteine methyltransferase reductase (MTRR), transcript variant 2, mRNA.	403	FAD-binding FR-type.				methionine biosynthetic process	cytosol	FMN binding|NADP binding|[methionine synthase] reductase activity|flavin adenine dinucleotide binding|iron ion binding			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(14)|ovary(1)|prostate(3)|stomach(1)	31					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)	GTGTCTTGAAATCCGAGCAAT	0.363000													4	65					0	0	1	0	0
HDAC9	9734	broad.mit.edu	37	7	18625059	18625059	+	Nonsense_Mutation	SNP	C	C	T			TCGA-A4-8515-01A-11D-2396-08	TCGA-A4-8515-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d3ff544-d2cb-4e64-8f22-6ff73447d5d8	69feb327-b524-4151-a600-01fa48d6b67a	g.chr7:18625059C>T	uc003sui.3	+	1	219	c.178C>T	c.(178-180)Cag>Tag	p.Q60*	HDAC9_uc003sue.3_Nonsense_Mutation_p.Q60*|HDAC9_uc011jyd.2_Nonsense_Mutation_p.Q60*|HDAC9_uc003suh.3_Nonsense_Mutation_p.Q60*|HDAC9_uc003suj.3_Nonsense_Mutation_p.Q60*|HDAC9_uc011jya.2_Nonsense_Mutation_p.Q102*|HDAC9_uc003sua.1_Nonsense_Mutation_p.Q79*|HDAC9_uc003sud.2_Nonsense_Mutation_p.Q60*|HDAC9_uc011jyc.2_Nonsense_Mutation_p.Q60*|HDAC9_uc011jyb.2_Nonsense_Mutation_p.Q60*|HDAC9_uc003suf.2_Nonsense_Mutation_p.Q88*|HDAC9_uc010kud.2_Nonsense_Mutation_p.Q60*|HDAC9_uc011jye.2_Nonsense_Mutation_p.Q29*|HDAC9_uc011jyf.2_Nonsense_Mutation_p.Q29*	NM_178425	NP_848512	Q9UKV0	HDAC9_HUMAN	Homo sapiens histone deacetylase 9 (HDAC9), transcript variant 5, mRNA.	60					B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	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)|histone deacetylase binding|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	GCAACAAATCCAGAAGCAGCT	0.493000													6	90					0	0	1	0	0
PCMTD1	115294	broad.mit.edu	37	8	52733204	52733204	+	Missense_Mutation	SNP	C	C	G			TCGA-A4-8515-01A-11D-2396-08	TCGA-A4-8515-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d3ff544-d2cb-4e64-8f22-6ff73447d5d8	69feb327-b524-4151-a600-01fa48d6b67a	g.chr8:52733204C>G	uc003xqx.4	-	5	1122	c.781G>C	c.(781-783)Gat>Cat	p.D261H	PCMTD1_uc011ldm.2_Missense_Mutation_p.D131H|PCMTD1_uc011ldn.2_Missense_Mutation_p.D73H|PCMTD1_uc010lya.3_Missense_Mutation_p.D185H	NM_052937	NP_443169	Q96MG8	PCMD1_HUMAN	Homo sapiens protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1 (PCMTD1), mRNA.	261						cytoplasm	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity			NS(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(17)|prostate(2)|skin(8)|soft_tissue(1)	37		Lung NSC(129;0.0795)|all_lung(136;0.144)				TGCATCTCATCATTTATGAAA	0.403000													6	129					0	0	1	0	0
CCDC28B	79140	broad.mit.edu	37	1	32670343	32670343	+	Missense_Mutation	SNP	T	T	G			TCGA-A4-8515-01A-11D-2396-08	TCGA-A4-8515-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d3ff544-d2cb-4e64-8f22-6ff73447d5d8	69feb327-b524-4151-a600-01fa48d6b67a	g.chr1:32670343T>G	uc021okt.1	+	4	802	c.670T>G	c.(670-672)Ttt>Gtt	p.F224V	CCDC28B_uc001bul.1_Intron|IQCC_uc001bum.2_5'Flank|IQCC_uc009vua.2_5'Flank|IQCC_uc010ogz.1_5'Flank	NM_024296	NP_077272	Q9BUN5	CC28B_HUMAN	Homo sapiens coiled-coil domain containing 28B (CCDC28B), mRNA.	0										large_intestine(4)|lung(3)|ovary(1)|upper_aerodigestive_tract(2)	10		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				TCCTGTCAGATTTAGCCACAG	0.453000													36	46					0	0	1	0	0
MASP1	5648	broad.mit.edu	37	3	187009418	187009418	+	Missense_Mutation	SNP	C	C	G			TCGA-A4-8515-01A-11D-2396-08	TCGA-A4-8515-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d3ff544-d2cb-4e64-8f22-6ff73447d5d8	69feb327-b524-4151-a600-01fa48d6b67a	g.chr3:187009418C>G	uc003frh.2	-	0	393	c.3G>C	c.(1-3)atG>atC	p.M1I	MASP1_uc003fri.3_Missense_Mutation_p.M1I|MASP1_uc003frj.3_Missense_Mutation_p.E48Q|MASP1_uc003frk.2_Missense_Mutation_p.M1I|MASP1_uc011bse.2_5'UTR|BX648496_uc021xin.1_Intron	NM_001879	NP_001870	P48740	MASP1_HUMAN	Homo sapiens mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor) (MASP1), transcript variant 1, mRNA.	1					complement activation, lectin pathway|negative regulation of complement activation|proteolysis	extracellular space	calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)		GCACGTACCTCATTTTCCTGC	0.602000													29	143					0	0	1	0	0
IQSEC1	9922	broad.mit.edu	37	3	12957106	12957106	+	Silent	SNP	C	C	T			TCGA-A4-8515-01A-11D-2396-08	TCGA-A4-8515-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d3ff544-d2cb-4e64-8f22-6ff73447d5d8	69feb327-b524-4151-a600-01fa48d6b67a	g.chr3:12957106C>T	uc003bxt.2	-	6	2199	c.2190G>A	c.(2188-2190)gtG>gtA	p.V730V	IQSEC1_uc003bxu.3_Silent_p.V608V|IQSEC1_uc011auw.1_Silent_p.V716V	NM_014869	NP_055684	Q6DN90	IQEC1_HUMAN	Homo sapiens IQ motif and Sec7 domain 1 (IQSEC1), transcript variant 2, mRNA.	730					regulation of ARF protein signal transduction	cytoplasm|nucleus	ARF guanyl-nucleotide exchange factor activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GCTTTTTCCCCACAATGAGCT	0.602000													21	61					0	0	1	0	0
UGDH	7358	broad.mit.edu	37	4	39515753	39515753	+	Missense_Mutation	SNP	A	A	G			TCGA-A4-8515-01A-11D-2396-08	TCGA-A4-8515-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d3ff544-d2cb-4e64-8f22-6ff73447d5d8	69feb327-b524-4151-a600-01fa48d6b67a	g.chr4:39515753A>G	uc003guk.2	-	2	537	c.214T>C	c.(214-216)Tct>Cct	p.S72P	UGDH_uc011byp.2_5'UTR|UGDH_uc003gul.2_Missense_Mutation_p.S72P	NM_003359	NP_001171630	O60701	UGDH_HUMAN	Homo sapiens UDP-glucose 6-dehydrogenase (UGDH), transcript variant 1, mRNA.	72					UDP-glucose metabolic process|UDP-glucuronate biosynthetic process|glycosaminoglycan biosynthetic process|xenobiotic metabolic process	cytosol	NAD binding|UDP-glucose 6-dehydrogenase activity|electron carrier activity	p.S72fs*18(2)		breast(1)|central_nervous_system(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(2)	27					NADH(DB00157)	ATATTGGTAGAAAAAAAAAGA	0.299000													33	46					0	0	1	0	0
LRRC37A11P	342666	broad.mit.edu	37	17	37188047	37188047	+	RNA	SNP	C	C	A			TCGA-A4-8515-01A-11D-2396-08	TCGA-A4-8515-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d3ff544-d2cb-4e64-8f22-6ff73447d5d8	69feb327-b524-4151-a600-01fa48d6b67a	g.chr17:37188047C>A	uc002hrd.1	+	0		c.1889C>A								Homo sapiens FLJ43826 protein (FLJ43826), non-coding RNA.																		AGCTCAGCATCCAACATCACC	0.507000													11	55					3.07112e-06	3.48754e-06	1	1	0
ALOX15B	247	broad.mit.edu	37	17	7948982	7948982	+	Missense_Mutation	SNP	C	C	T			TCGA-A4-8515-01A-11D-2396-08	TCGA-A4-8515-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d3ff544-d2cb-4e64-8f22-6ff73447d5d8	69feb327-b524-4151-a600-01fa48d6b67a	g.chr17:7948982C>T	uc002gju.3	+	7	1294	c.1178C>T	c.(1177-1179)cCc>cTc	p.P393L	ALOX15B_uc002gjv.3_Missense_Mutation_p.P393L|ALOX15B_uc002gjw.3_Missense_Mutation_p.P393L|ALOX15B_uc010vun.2_Missense_Mutation_p.P393L|ALOX15B_uc010cnp.3_Missense_Mutation_p.P199L	NM_001141	NP_001132	O15296	LX15B_HUMAN	Homo sapiens arachidonate 15-lipoxygenase, type B (ALOX15B), transcript variant d, mRNA.	393	Lipoxygenase.				induction of apoptosis|leukotriene biosynthetic process|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of growth|prostate gland development|regulation of epithelial cell differentiation	cytoplasm	arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	24						CGTCAGCTGCCCCACTGCCAC	0.612000													32	38					0	0	1	0	0
NAV2	89797	broad.mit.edu	37	11	19954837	19954837	+	Silent	SNP	G	G	A	rs143560669	by1000genomes	TCGA-A4-8515-01A-11D-2396-08	TCGA-A4-8515-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d3ff544-d2cb-4e64-8f22-6ff73447d5d8	69feb327-b524-4151-a600-01fa48d6b67a	g.chr11:19954837G>A	uc010rdm.2	+	7	1477	c.1116G>A	c.(1114-1116)ccG>ccA	p.P372P	NAV2_uc001mpp.3_Silent_p.P285P|NAV2_uc001mpr.4_Silent_p.P349P|NAV2_uc021qew.1_Silent_p.P349P	NM_001244963	NP_001231892	Q8IVL1	NAV2_HUMAN	Homo sapiens neuron navigator 2 (NAV2), transcript variant 5, mRNA.	372						nucleus	ATP binding|helicase activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						CGGCCATCCCGCAGCCCGGTG	0.627000													5	387					0	0	1	0	0
COL4A4	1286	broad.mit.edu	37	2	227872789	227872789	+	Missense_Mutation	SNP	A	A	G			TCGA-A4-8515-01A-11D-2396-08	TCGA-A4-8515-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d3ff544-d2cb-4e64-8f22-6ff73447d5d8	69feb327-b524-4151-a600-01fa48d6b67a	g.chr2:227872789A>G	uc021vxr.1	-	45	4855	c.4754T>C	c.(4753-4755)aTc>aCc	p.I1585T	COL4A4_uc021vxs.1_Missense_Mutation_p.I1582T	NM_000092	NP_000083	P53420	CO4A4_HUMAN	Homo sapiens collagen, type IV, alpha 4 (COL4A4), mRNA.	1585	Collagen IV NC1.				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)		ACATGGGGGGATGGACTGGTC	0.622000													17	29					0	0	1	0	0
PEG3	5178	broad.mit.edu	37	19	57326548	57326548	+	Missense_Mutation	SNP	C	C	A			TCGA-A4-8515-01A-11D-2396-08	TCGA-A4-8515-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d3ff544-d2cb-4e64-8f22-6ff73447d5d8	69feb327-b524-4151-a600-01fa48d6b67a	g.chr19:57326548C>A	uc002qnu.2	-	6	3613	c.3262G>T	c.(3262-3264)Gtc>Ttc	p.V1088F	PEG3_uc010ygr.1_Intron|PEG3_uc010ygq.1_Intron|PEG3_uc002qnr.2_Intron|PEG3_uc010etp.2_Intron|PEG3_uc010ygs.1_Intron|PEG3_uc002qnq.2_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.V1059F|PEG3_uc002qnv.2_Missense_Mutation_p.V1088F|PEG3_uc002qnw.2_Missense_Mutation_p.V964F|PEG3_uc002qnx.2_Missense_Mutation_p.V962F|PEG3_uc010etr.2_Missense_Mutation_p.V1088F	NM_001146186	NP_001139657	Q9GZU2	PEG3_HUMAN	Homo sapiens paternally expressed 3 (PEG3), transcript variant 4, mRNA.	1088					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		CCTTGAATGACAGGGTCTTCA	0.517000													4	95					0.150653	0.155289	1	1	0
ECHDC1	55862	broad.mit.edu	37	6	127611395	127611395	+	Silent	SNP	T	T	C			TCGA-A4-8515-01A-11D-2396-08	TCGA-A4-8515-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d3ff544-d2cb-4e64-8f22-6ff73447d5d8	69feb327-b524-4151-a600-01fa48d6b67a	g.chr6:127611395T>C	uc003qax.3	-	5	579	c.543A>G	c.(541-543)agA>agG	p.R181R	ECHDC1_uc003qaz.4_Silent_p.R175R|ECHDC1_uc010key.3_Silent_p.R100R|ECHDC1_uc003qay.4_3'UTR|ECHDC1_uc010kez.3_3'UTR	NM_001139510	NP_001099014	Q9NTX5	ECHD1_HUMAN	Homo sapiens enoyl CoA hydratase domain containing 1 (ECHDC1), transcript variant 5, mRNA.	181							catalytic activity			large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	4				GBM - Glioblastoma multiforme(226;0.0423)|all cancers(137;0.156)		TGTGGACGAATCTGATCTTAC	0.408000													31	47					0	0	1	0	0
UGT2B10	7365	broad.mit.edu	37	4	69874738	69874738	+	Missense_Mutation	SNP	T	T	C	rs13118402		TCGA-A4-8515-01A-11D-2396-08	TCGA-A4-8515-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d3ff544-d2cb-4e64-8f22-6ff73447d5d8	69feb327-b524-4151-a600-01fa48d6b67a	g.chr4:69874738T>C	uc011cao.1	-	6	1138	c.1012A>G	c.(1012-1014)Aca>Gca	p.T338A	UGT2B10_uc011can.1_Missense_Mutation_p.T254A			P36537	UDB10_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B10 (UGT2B10), transcript variant 1, mRNA.	382					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						TGGTAGATTGTCTCGTAGATG	0.403000													4	165					0	0	1	0	0
VAV3	10451	broad.mit.edu	37	1	108507542	108507544	+	Splice_Site	DEL	GCC	GCC	-	rs71796067		TCGA-A4-8515-01A-11D-2396-08	TCGA-A4-8515-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d3ff544-d2cb-4e64-8f22-6ff73447d5d8	af2ca6b1-94ef-4660-8a55-522a8022d5b2	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													5	9	---	---	---	---					
C2orf71	388939	broad.mit.edu	37	2	29297095	29297096	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A4-8515-01A-11D-2396-08	TCGA-A4-8515-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d3ff544-d2cb-4e64-8f22-6ff73447d5d8	af2ca6b1-94ef-4660-8a55-522a8022d5b2	g.chr2:29297095_29297096insA	uc002rmt.2	-	0	32_33	c.32_33insT	c.(31-33)gtafs	p.V11fs		NM_001029883	NP_001025054	A6NGG8	CB071_HUMAN	Homo sapiens chromosome 2 open reading frame 71 (C2orf71), mRNA.	11					response to stimulus|visual perception	photoreceptor outer segment				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						CAACGCTGTTTACAAGGTCACT	0.450													48	45	---	---	---	---					
RAD18	56852	broad.mit.edu	37	3	8955405	8955406	+	Splice_Site	INS	-	-	TG			TCGA-A4-8515-01A-11D-2396-08	TCGA-A4-8515-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d3ff544-d2cb-4e64-8f22-6ff73447d5d8	af2ca6b1-94ef-4660-8a55-522a8022d5b2	g.chr3:8955405_8955406insTG	uc003brd.3	-	8	980	c.890_splice	c.e8-1	p.A297_splice		NM_020165	NP_064550	Q9NS91	RAD18_HUMAN	Homo sapiens RAD18 homolog (S. cerevisiae) (RAD18), mRNA.	297					DNA repair	nucleus|replication fork	Y-form DNA binding|damaged DNA binding|ligase activity|ubiquitin protein ligase binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)|skin(3)	15				OV - Ovarian serous cystadenocarcinoma(96;0.0552)		ATTTCAGCAGCTGTTAAAATAA	0.317								Rad6 pathway					13	11	---	---	---	---					
MAML3	55534	broad.mit.edu	37	4	140811064	140811069	+	In_Frame_Del	DEL	TGCTGC	TGCTGC	-	rs71855026		TCGA-A4-8515-01A-11D-2396-08	TCGA-A4-8515-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d3ff544-d2cb-4e64-8f22-6ff73447d5d8	af2ca6b1-94ef-4660-8a55-522a8022d5b2	g.chr4:140811064_140811069delTGCTGC	uc021xsg.1	-	1	2273_2278	c.1521_1526delGCAGCA	c.(1519-1527)cagcagcaa>caa	p.507_509QQQ>Q	MAML3_uc011chd.1_Intron	NM_018717	NP_061187	Q96JK9	MAML3_HUMAN	Homo sapiens mastermind-like 3 (Drosophila) (MAML3), mRNA.	506	Gln-rich.				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity			breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					TGAGtgctgttgctgctgctgctgct	0.515													10	94	---	---	---	---					
HLA-C	3107	broad.mit.edu	37	6	31323288	31323288	+	Frame_Shift_Del	DEL	G	G	-	rs74428022		TCGA-A4-8515-01A-11D-2396-08	TCGA-A4-8515-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d3ff544-d2cb-4e64-8f22-6ff73447d5d8	af2ca6b1-94ef-4660-8a55-522a8022d5b2	g.chr6:31323288delG	uc003nth.2	-	3	755	c.701delC	c.(700-702)cctfs	p.P234fs	HLA-C_uc003ntf.2_Intron|HLA-C_uc003ntg.1_Frame_Shift_Del_p.P113fs|HLA-C_uc003nti.1_Non-coding_Transcript|HLA-C_uc010jsn.1_Non-coding_Transcript	NM_005514	NP_005505	Q9TNN7	1C05_HUMAN	Homo sapiens major histocompatibility complex, class I, B (HLA-B), mRNA.	234	Alpha-3.|Ig-like C1-type.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	MHC class I protein complex|integral to membrane				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	17						GATCTCCGCAGGGTAGAAACC	0.587													70	87	---	---	---	---					
TMEM184A	202915	broad.mit.edu	37	7	1586662	1586663	+	In_Frame_Ins	INS	-	-	GCC	rs3837151	by1000genomes	TCGA-A4-8515-01A-11D-2396-08	TCGA-A4-8515-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d3ff544-d2cb-4e64-8f22-6ff73447d5d8	af2ca6b1-94ef-4660-8a55-522a8022d5b2	g.chr7:1586662_1586663insGCC	uc003skv.4	-	8	1484_1485	c.1167_1168insGGC	c.(1165-1170)insGGC	p.389_390insG	TMEM184A_uc003skt.4_In_Frame_Ins_p.368_369insG|TMEM184A_uc021zyr.1_In_Frame_Ins_p.194_195insG	NM_001097620	NP_001091089	Q6ZMB5	T184A_HUMAN	Homo sapiens transmembrane protein 184A (TMEM184A), mRNA.	389						integral to membrane				endometrium(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	12		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.88e-15)		GAGCCGCCGCTGGGGTGGGTGC	0.703													12	73	---	---	---	---					
RPS2P32	256355	broad.mit.edu	37	7	23531030	23531030	+	Splice_Site	DEL	A	A	-			TCGA-A4-8515-01A-11D-2396-08	TCGA-A4-8515-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d3ff544-d2cb-4e64-8f22-6ff73447d5d8	af2ca6b1-94ef-4660-8a55-522a8022d5b2	g.chr7:23531030delA	uc011jza.2	+	1	1025	c.1002_splice	c.e1+1							Homo sapiens ribosomal protein S2 pseudogene 32 (RPS2P32), non-coding RNA.																		TATTACTGTCAAAAAAAAAAA	0.378													2	4	---	---	---	---					
EPHB4	2050	broad.mit.edu	37	7	100404084	100404104	+	In_Frame_Del	DEL	CATCACCTCCCACATCACAAT	CATCACCTCCCACATCACAAT	-			TCGA-A4-8515-01A-11D-2396-08	TCGA-A4-8515-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d3ff544-d2cb-4e64-8f22-6ff73447d5d8	af2ca6b1-94ef-4660-8a55-522a8022d5b2	g.chr7:100404084_100404104delCATCACCTCCCACATCACAAT	uc003uwn.1	-	13	2913_2933	c.2422_2442delATTGTGATGTGGGAGGTGATG	c.(2422-2442)attgtgatgtgggaggtgatgdel	p.IVMWEVM808del	EPHB4_uc003uwm.1_In_Frame_Del_p.IVMWEVM715del|EPHB4_uc010lhj.1_In_Frame_Del_p.IVMWEVM808del	NM_004444	NP_004435	P54760	EPHB4_HUMAN	Homo sapiens EPH receptor B4 (EPHB4), mRNA.	808	Protein kinase.				cell proliferation|organ morphogenesis|regulation of angiogenesis	cell surface|integral to plasma membrane	ATP binding|ephrin receptor activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3)	47	Lung NSC(181;0.041)|all_lung(186;0.0581)					CCCCAAATGACATCACCTCCCACATCACAATCCCGTAACTC	0.552													14	151	---	---	---	---					
TRIM14	9830	broad.mit.edu	37	9	100862406	100862406	+	Frame_Shift_Del	DEL	A	A	-			TCGA-A4-8515-01A-11D-2396-08	TCGA-A4-8515-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d3ff544-d2cb-4e64-8f22-6ff73447d5d8	af2ca6b1-94ef-4660-8a55-522a8022d5b2	g.chr9:100862406delA	uc004ayd.2	-	2	362	c.344delT	c.(343-345)ttcfs	p.F115fs	TRIM14_uc004ayg.1_Frame_Shift_Del_p.F115fs|TRIM14_uc004ayh.1_Frame_Shift_Del_p.F115fs	NM_033220	NP_150089	Q14142	TRI14_HUMAN	Homo sapiens tripartite motif containing 14 (TRIM14), transcript variant 3, mRNA.	115						cytoplasm|intracellular	zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	9		Acute lymphoblastic leukemia(62;0.0559)				GAGTTCAGTGAATTTCCCCTT	0.433													52	59	---	---	---	---					
CDHR5	53841	broad.mit.edu	37	11	618807	618807	+	Frame_Shift_Del	DEL	G	G	-			TCGA-A4-8515-01A-11D-2396-08	TCGA-A4-8515-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d3ff544-d2cb-4e64-8f22-6ff73447d5d8	af2ca6b1-94ef-4660-8a55-522a8022d5b2	g.chr11:618807delG	uc001lql.3	-	12	2019	c.1752delC	c.(1750-1752)cccfs	p.P584fs	IRF7_uc001lqh.3_5'Flank|IRF7_uc001lqi.3_5'Flank|IRF7_uc010qwh.2_5'Flank|CDHR5_uc001lqj.3_Frame_Shift_Del_p.P584fs|CDHR5_uc009ycd.3_Frame_Shift_Del_p.P578fs|CDHR5_uc001lqk.3_Intron|CDHR5_uc009ycc.3_Frame_Shift_Del_p.P418fs	NM_021924	NP_068743	Q9HBB8	CDHR5_HUMAN	Homo sapiens cadherin-related family member 5 (CDHR5), transcript variant 1, mRNA.	584	4 X 31 AA approximate tandem repeats.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	23						TTCCCATACTGGGGGGCATCG	0.677													7	258	---	---	---	---					
PUS3	83480	broad.mit.edu	37	11	125765906	125765922	+	Frame_Shift_Del	DEL	TCTCTTCAATGGTATTA	TCTCTTCAATGGTATTA	-			TCGA-A4-8515-01A-11D-2396-08	TCGA-A4-8515-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d3ff544-d2cb-4e64-8f22-6ff73447d5d8	af2ca6b1-94ef-4660-8a55-522a8022d5b2	g.chr11:125765906_125765922delTCTCTTCAATGGTATTA	uc001qcy.2	-	1	356_372	c.258_274delTAATACCATTGAAGAGA	c.(256-276)aataataccattgaagagaaafs	p.N86fs	HYLS1_uc009zbv.3_Intron|HYLS1_uc001qcx.4_Intron	NM_031307	NP_112597	Q9BZE2	PUS3_HUMAN	Homo sapiens pseudouridylate synthase 3 (PUS3), mRNA.	86						nucleus	RNA binding			NS(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	10	all_hematologic(175;0.177)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.131)|all_lung(97;0.139)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.043)		TCAAACAGTTTCTCTTCAATGGTATTATTTGTGTTTT	0.447													60	134	---	---	---	---					
SENP8	123228	broad.mit.edu	37	15	72432229	72432229	+	Frame_Shift_Del	DEL	G	G	-			TCGA-A4-8515-01A-11D-2396-08	TCGA-A4-8515-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d3ff544-d2cb-4e64-8f22-6ff73447d5d8	af2ca6b1-94ef-4660-8a55-522a8022d5b2	g.chr15:72432229delG	uc021spq.1	+	1	598	c.265delG	c.(265-267)gccfs	p.A89fs	SENP8_uc021spr.1_Frame_Shift_Del_p.A89fs|SENP8_uc021sps.1_Frame_Shift_Del_p.A89fs|SENP8_uc021spt.1_Frame_Shift_Del_p.A89fs|SENP8_uc002atp.3_Frame_Shift_Del_p.A89fs|SENP8_uc021spu.1_Frame_Shift_Del_p.A89fs	NM_001166340	NP_660205	Q96LD8	SENP8_HUMAN	Homo sapiens SUMO/sentrin specific peptidase family member 8 (SENP8), transcript variant 1, mRNA.	89	Protease.				proteolysis		cysteine-type peptidase activity|protein binding			breast(1)|kidney(2)|lung(1)|ovary(1)|skin(1)	6						TGTATTTTTAGCCATCAATGA	0.448													53	61	---	---	---	---					
AP1G1	164	broad.mit.edu	37	16	71768532	71768533	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A4-8515-01A-11D-2396-08	TCGA-A4-8515-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d3ff544-d2cb-4e64-8f22-6ff73447d5d8	af2ca6b1-94ef-4660-8a55-522a8022d5b2	g.chr16:71768532_71768533insA	uc010cgg.3	-	21	2660_2661	c.2346_2347insT	c.(2344-2349)attaaafs	p.I782fs	AP1G1_uc021tkz.1_Frame_Shift_Ins_p.I570fs|AP1G1_uc002fbb.3_Frame_Shift_Ins_p.I805fs|AP1G1_uc002faz.3_Frame_Shift_Ins_p.I199fs|AP1G1_uc021tky.1_Frame_Shift_Ins_p.I785fs	NM_001128	NP_001119	O43747	AP1G1_HUMAN	Homo sapiens adaptor-related protein complex 1, gamma 1 subunit (AP1G1), transcript variant 2, mRNA.	782	GAE.				endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	Golgi membrane|clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|lysosomal membrane|recycling endosome	kinesin binding|protein transporter activity			breast(1)|endometrium(8)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|urinary_tract(1)	28		Ovarian(137;0.125)				TTCAGAACTTTAATGACTTGTG	0.450													369	290	---	---	---	---					
ZZEF1	23140	broad.mit.edu	37	17	3924472	3924472	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A4-8515-01A-11D-2396-08	TCGA-A4-8515-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d3ff544-d2cb-4e64-8f22-6ff73447d5d8	af2ca6b1-94ef-4660-8a55-522a8022d5b2	g.chr17:3924472delT	uc002fxe.3	-	44	7419	c.7355delA	c.(7354-7356)aagfs	p.K2452fs		NM_015113	NP_055928	O43149	ZZEF1_HUMAN	Homo sapiens zinc finger, ZZ-type with EF-hand domain 1 (ZZEF1), mRNA.	2452							calcium ion binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						GGGGTCCAGCTTTTTCTGCTC	0.582													106	272	---	---	---	---					
TRIM37	4591	broad.mit.edu	37	17	57078973	57078974	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-A4-8515-01A-11D-2396-08	TCGA-A4-8515-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d3ff544-d2cb-4e64-8f22-6ff73447d5d8	af2ca6b1-94ef-4660-8a55-522a8022d5b2	g.chr17:57078973_57078974delTG	uc002iwy.4	-	22	3241_3242	c.2797_2798delCA	c.(2797-2799)cagfs	p.Q933fs	TRIM37_uc002iwz.4_Frame_Shift_Del_p.Q933fs|TRIM37_uc002ixa.4_Intron|TRIM37_uc010woc.2_Frame_Shift_Del_p.Q899fs	NM_001005207	NP_056109	O94972	TRI37_HUMAN	Homo sapiens tripartite motif containing 37 (TRIM37), transcript variant 2, mRNA.	933						perinuclear region of cytoplasm|peroxisome	ligase activity|protein binding|zinc ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(13)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					ATCCGGGGGCTGTGTCATGACC	0.485									Mulibrey Nanism				20	170	---	---	---	---					
SMCHD1	23347	broad.mit.edu	37	18	2666935	2666935	+	Frame_Shift_Del	DEL	C	C	-			TCGA-A4-8515-01A-11D-2396-08	TCGA-A4-8515-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d3ff544-d2cb-4e64-8f22-6ff73447d5d8	af2ca6b1-94ef-4660-8a55-522a8022d5b2	g.chr18:2666935delC	uc002klm.4	+	2	518	c.329delC	c.(328-330)gctfs	p.A110fs		NM_015295	NP_056110	A6NHR9	SMHD1_HUMAN	Homo sapiens structural maintenance of chromosomes flexible hinge domain containing 1 (SMCHD1), mRNA.	110					chromosome organization		ATP binding			NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						CTACTGACAGCTACGAAAGAA	0.388													8	14	---	---	---	---					
CABLES1	91768	broad.mit.edu	37	18	20716015	20716023	+	In_Frame_Del	DEL	GGCGCCGGC	GGCGCCGGC	-			TCGA-A4-8515-01A-11D-2396-08	TCGA-A4-8515-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d3ff544-d2cb-4e64-8f22-6ff73447d5d8	af2ca6b1-94ef-4660-8a55-522a8022d5b2	g.chr18:20716015_20716023delGGCGCCGGC	uc002kuc.2	+	0	289_297	c.289_297delGGCGCCGGC	c.(289-297)ggcgccggcdel	p.GAG97del	CABLES1_uc002kub.2_Intron	NM_001100619	NP_001094089	Q8TDN4	CABL1_HUMAN	Homo sapiens Cdk5 and Abl enzyme substrate 1 (CABLES1), transcript variant 2, mRNA.	97	Ala-rich.|Interacts with TDRD7 (By similarity).				blood coagulation|cell cycle|cell division|regulation of cell cycle|regulation of cell division	cytosol|nucleus	cyclin-dependent protein kinase regulator activity|protein binding			breast(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|stomach(1)	11	all_cancers(21;0.000102)|all_epithelial(16;2.48e-06)|Lung NSC(20;0.00696)|all_lung(20;0.0197)|Colorectal(14;0.0202)|Ovarian(20;0.127)					ggccaagccgggcgccggcggcgcctgcg	0.785													8	1	---	---	---	---					
RAD18	56852	broad.mit.edu	37	3	8955405	8955406	+	Splice_Site	INS	-	-	TG			TCGA-A4-8515-01A-11D-2396-08	TCGA-A4-8515-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d3ff544-d2cb-4e64-8f22-6ff73447d5d8	69feb327-b524-4151-a600-01fa48d6b67a	g.chr3:8955405_8955406insTG	uc003brd.3	-	8	980	c.890_splice	c.e8-1	p.A297_splice		NM_020165	NP_064550	Q9NS91	RAD18_HUMAN	Homo sapiens RAD18 homolog (S. cerevisiae) (RAD18), mRNA.	297					DNA repair	nucleus|replication fork	Y-form DNA binding|damaged DNA binding|ligase activity|ubiquitin protein ligase binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)|skin(3)	15				OV - Ovarian serous cystadenocarcinoma(96;0.0552)		ATTTCAGCAGCTGTTAAAATAA	0.317								Rad6 pathway					13	11	---	---	---	---					
EPHB4	2050	broad.mit.edu	37	7	100404084	100404104	+	In_Frame_Del	DEL	CATCACCTCCCACATCACAAT	CATCACCTCCCACATCACAAT	-			TCGA-A4-8515-01A-11D-2396-08	TCGA-A4-8515-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d3ff544-d2cb-4e64-8f22-6ff73447d5d8	69feb327-b524-4151-a600-01fa48d6b67a	g.chr7:100404084_100404104delCATCACCTCCCACATCACAAT	uc003uwn.1	-	13	2913_2933	c.2422_2442delATTGTGATGTGGGAGGTGATG	c.(2422-2442)attgtgatgtgggaggtgatgdel	p.IVMWEVM808del	EPHB4_uc003uwm.1_In_Frame_Del_p.IVMWEVM715del|EPHB4_uc010lhj.1_In_Frame_Del_p.IVMWEVM808del	NM_004444	NP_004435	P54760	EPHB4_HUMAN	Homo sapiens EPH receptor B4 (EPHB4), mRNA.	808	Protein kinase.				cell proliferation|organ morphogenesis|regulation of angiogenesis	cell surface|integral to plasma membrane	ATP binding|ephrin receptor activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3)	47	Lung NSC(181;0.041)|all_lung(186;0.0581)					CCCCAAATGACATCACCTCCCACATCACAATCCCGTAACTC	0.552													14	151	---	---	---	---					
TRIM14	9830	broad.mit.edu	37	9	100862406	100862406	+	Frame_Shift_Del	DEL	A	A	-			TCGA-A4-8515-01A-11D-2396-08	TCGA-A4-8515-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d3ff544-d2cb-4e64-8f22-6ff73447d5d8	69feb327-b524-4151-a600-01fa48d6b67a	g.chr9:100862406delA	uc004ayd.2	-	2	362	c.344delT	c.(343-345)ttcfs	p.F115fs	TRIM14_uc004ayg.1_Frame_Shift_Del_p.F115fs|TRIM14_uc004ayh.1_Frame_Shift_Del_p.F115fs	NM_033220	NP_150089	Q14142	TRI14_HUMAN	Homo sapiens tripartite motif containing 14 (TRIM14), transcript variant 3, mRNA.	115						cytoplasm|intracellular	zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	9		Acute lymphoblastic leukemia(62;0.0559)				GAGTTCAGTGAATTTCCCCTT	0.433													52	59	---	---	---	---					
SENP8	123228	broad.mit.edu	37	15	72432229	72432229	+	Frame_Shift_Del	DEL	G	G	-			TCGA-A4-8515-01A-11D-2396-08	TCGA-A4-8515-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d3ff544-d2cb-4e64-8f22-6ff73447d5d8	69feb327-b524-4151-a600-01fa48d6b67a	g.chr15:72432229delG	uc021spq.1	+	1	598	c.265delG	c.(265-267)gccfs	p.A89fs	SENP8_uc021spr.1_Frame_Shift_Del_p.A89fs|SENP8_uc021sps.1_Frame_Shift_Del_p.A89fs|SENP8_uc021spt.1_Frame_Shift_Del_p.A89fs|SENP8_uc002atp.3_Frame_Shift_Del_p.A89fs|SENP8_uc021spu.1_Frame_Shift_Del_p.A89fs	NM_001166340	NP_660205	Q96LD8	SENP8_HUMAN	Homo sapiens SUMO/sentrin specific peptidase family member 8 (SENP8), transcript variant 1, mRNA.	89	Protease.				proteolysis		cysteine-type peptidase activity|protein binding			breast(1)|kidney(2)|lung(1)|ovary(1)|skin(1)	6						TGTATTTTTAGCCATCAATGA	0.448													53	61	---	---	---	---					
TRIM37	4591	broad.mit.edu	37	17	57078973	57078974	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-A4-8515-01A-11D-2396-08	TCGA-A4-8515-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d3ff544-d2cb-4e64-8f22-6ff73447d5d8	69feb327-b524-4151-a600-01fa48d6b67a	g.chr17:57078973_57078974delTG	uc002iwy.4	-	22	3241_3242	c.2797_2798delCA	c.(2797-2799)cagfs	p.Q933fs	TRIM37_uc002iwz.4_Frame_Shift_Del_p.Q933fs|TRIM37_uc002ixa.4_Intron|TRIM37_uc010woc.2_Frame_Shift_Del_p.Q899fs	NM_001005207	NP_056109	O94972	TRI37_HUMAN	Homo sapiens tripartite motif containing 37 (TRIM37), transcript variant 2, mRNA.	933						perinuclear region of cytoplasm|peroxisome	ligase activity|protein binding|zinc ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(13)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					ATCCGGGGGCTGTGTCATGACC	0.485									Mulibrey Nanism				20	170	---	---	---	---					
SMCHD1	23347	broad.mit.edu	37	18	2666935	2666935	+	Frame_Shift_Del	DEL	C	C	-			TCGA-A4-8515-01A-11D-2396-08	TCGA-A4-8515-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d3ff544-d2cb-4e64-8f22-6ff73447d5d8	69feb327-b524-4151-a600-01fa48d6b67a	g.chr18:2666935delC	uc002klm.4	+	2	518	c.329delC	c.(328-330)gctfs	p.A110fs		NM_015295	NP_056110	A6NHR9	SMHD1_HUMAN	Homo sapiens structural maintenance of chromosomes flexible hinge domain containing 1 (SMCHD1), mRNA.	110					chromosome organization		ATP binding			NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						CTACTGACAGCTACGAAAGAA	0.388													8	14	---	---	---	---					
TPTE	7179	broad.mit.edu	37	21	10944697	10944697	+	Frame_Shift_Del	DEL	A	A	-			TCGA-A4-8515-01A-11D-2396-08	TCGA-A4-8515-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d3ff544-d2cb-4e64-8f22-6ff73447d5d8	69feb327-b524-4151-a600-01fa48d6b67a	g.chr21:10944697delA	uc002yip.1	-	10	905	c.537delT	c.(535-537)tttfs	p.F179fs	TPTE_uc002yis.1_Non-coding_Transcript|TPTE_uc002yiq.1_Frame_Shift_Del_p.F161fs|TPTE_uc002yir.1_Frame_Shift_Del_p.F141fs|TPTE_uc010gkv.1_Frame_Shift_Del_p.F41fs	NM_199261	NP_954870	P56180	TPTE_HUMAN	Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 1, mRNA.	179					signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ACTTAATGTCAAAAAAAATGT	0.299													7	245	---	---	---	---					
