Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	validation_method	t_ref_count	validation_status	validation_tumor_sample	t_alt_count	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
LAP3	51056	broad.mit.edu	37	4	17590497	17590497	+	Missense_Mutation	SNP	G	A	A			TCGA-BQ-7045-01A-31D-1961-08	TCGA-BQ-7045-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	413a9e10-cac7-4b6c-91cd-b58fd4499c07	0ed1c015-2f52-4269-98d4-b78e9323f29c	g.chr4:17590497G>A	uc003gph.1	+	6	922	c.760G>A	c.(760-762)Gga>Aga	p.G254R		NM_015907	NP_056991	P28838	AMPL_HUMAN	Homo sapiens leucine aminopeptidase 3 (LAP3), mRNA.	254					proteolysis	nucleus	aminopeptidase activity|magnesium ion binding|manganese ion binding|metalloexopeptidase activity|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|urinary_tract(1)	20						TGTGGCCAAAGGATCTGACGA	0.453000														66			43		0	0	0.003214	0	0
PLIN4	729359	broad.mit.edu	37	19	4512468	4512468	+	Missense_Mutation	SNP	C	T	T			TCGA-BQ-7045-01A-31D-1961-08	TCGA-BQ-7045-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	413a9e10-cac7-4b6c-91cd-b58fd4499c07	0ed1c015-2f52-4269-98d4-b78e9323f29c	g.chr19:4512468C>T	uc002mar.1	-	2	1462	c.1462G>A	c.(1462-1464)Gtg>Atg	p.V488M	PLIN4_uc010dub.1_5'Flank	NM_001080400	NP_001073869	Q96Q06	PLIN4_HUMAN	Homo sapiens perilipin 4 (PLIN4), mRNA.	488	27 X 33 AA approximate tandem repeat.					lipid particle|plasma membrane				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						CCAGTGGACACAGCATCTTTA	0.612000														127			53		0	0	0.003610	0	0
DYNC1H1	1778	broad.mit.edu	37	14	102466716	102466716	+	Missense_Mutation	SNP	G	A	A			TCGA-BQ-7045-01A-31D-1961-08	TCGA-BQ-7045-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	413a9e10-cac7-4b6c-91cd-b58fd4499c07	0ed1c015-2f52-4269-98d4-b78e9323f29c	g.chr14:102466716G>A	uc001yks.2	+	17	4218	c.4054G>A	c.(4054-4056)Gtt>Att	p.V1352I		NM_001376	NP_001367	Q14204	DYHC1_HUMAN	Homo sapiens dynein, cytoplasmic 1, heavy chain 1 (DYNC1H1), mRNA.	1352	Stem (By similarity).				G2/M transition of mitotic cell cycle|cytoplasmic mRNA processing body assembly|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	Golgi apparatus|centrosome|cytoplasmic dynein complex|cytosol|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						GCAACCCTGGGTTTCAGTACA	0.428000														52			25		0	0	0.003954	0	0
PCLO	27445	broad.mit.edu	37	7	82532016	82532016	+	Silent	SNP	A	G	G			TCGA-BQ-7045-01A-31D-1961-08	TCGA-BQ-7045-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	413a9e10-cac7-4b6c-91cd-b58fd4499c07	0ed1c015-2f52-4269-98d4-b78e9323f29c	g.chr7:82532016A>G	uc003uhx.2	-	8	13768	c.13479T>C	c.(13477-13479)ccT>ccC	p.P4493P	PCLO_uc003uhv.2_Silent_p.P4493P	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	4424					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TCCTTGCGTGAGGAAAGATGT	0.299000														38			42		0	0	0.003610	0	0
C6orf195	154386	broad.mit.edu	37	6	2623684	2623684	+	Nonsense_Mutation	SNP	C	A	A			TCGA-BQ-7045-01A-31D-1961-08	TCGA-BQ-7045-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	413a9e10-cac7-4b6c-91cd-b58fd4499c07	0ed1c015-2f52-4269-98d4-b78e9323f29c	g.chr6:2623684C>A	uc003mtw.2	-	2	1358	c.373G>T	c.(373-375)Gaa>Taa	p.E125*	C6orf195_uc021ykp.1_Nonsense_Mutation_p.E125*	NM_152554	NP_689767	Q96MT4	CF195_HUMAN	Homo sapiens chromosome 6 open reading frame 195 (C6orf195), mRNA.	125										cervix(1)|endometrium(1)|lung(2)|skin(1)	5	Ovarian(93;0.0412)	all_hematologic(90;0.0895)				CAGAAAGCTTCATTGCTAATC	0.493000														37			24		5.45024e-15	1.41946e-14	0.003330	1	0
DZIP1L	199221	broad.mit.edu	37	3	137805834	137805834	+	Missense_Mutation	SNP	A	G	G			TCGA-BQ-7045-01A-31D-1961-08	TCGA-BQ-7045-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	413a9e10-cac7-4b6c-91cd-b58fd4499c07	0ed1c015-2f52-4269-98d4-b78e9323f29c	g.chr3:137805834A>G	uc003erq.3	-	6	1394	c.1031T>C	c.(1030-1032)cTg>cCg	p.L344P	DZIP1L_uc003err.1_Missense_Mutation_p.L344P	NM_173543	NP_775814	Q8IYY4	DZI1L_HUMAN	Homo sapiens DAZ interacting protein 1-like (DZIP1L), transcript variant 1, mRNA.	344						intracellular	zinc ion binding			breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(2)|prostate(1)|skin(1)	35						CTCTTCATGCAGTTCCTTCAC	0.423000														79			23		0	0	0.005443	0	0
C6orf223	221416	broad.mit.edu	37	6	43970795	43970795	+	Missense_Mutation	SNP	C	T	T			TCGA-BQ-7045-01A-31D-1961-08	TCGA-BQ-7045-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	413a9e10-cac7-4b6c-91cd-b58fd4499c07	0ed1c015-2f52-4269-98d4-b78e9323f29c	g.chr6:43970795C>T	uc003own.3	+	3	681	c.661C>T	c.(661-663)Cgc>Tgc	p.R221C	AK024736_uc003owm.1_Intron|C6orf223_uc003owo.3_3'UTR	NM_153246	NP_694978	Q8N319	CF223_HUMAN	Homo sapiens chromosome 6 open reading frame 223 (C6orf223), transcript variant 1, mRNA.	221								p.R221L(1)		central_nervous_system(1)|lung(2)|pancreas(1)|prostate(1)|urinary_tract(1)	6	all_cancers(18;2.28e-07)|all_epithelial(2;1.62e-08)|Lung NSC(15;0.000172)|all_lung(25;0.000533)|Hepatocellular(11;0.00309)|Ovarian(13;0.0437)		all cancers(41;0.00141)|Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.217)			ACGGCTAATGCGCTCTAATTA	0.637000														41			32		0	0	0.002836	0	0
USH2A	7399	broad.mit.edu	37	1	216373415	216373415	+	Missense_Mutation	SNP	G	A	A			TCGA-BQ-7045-01A-31D-1961-08	TCGA-BQ-7045-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	413a9e10-cac7-4b6c-91cd-b58fd4499c07	0ed1c015-2f52-4269-98d4-b78e9323f29c	g.chr1:216373415G>A	uc001hku.1	-	16	3752	c.3365C>T	c.(3364-3366)tCc>tTc	p.S1122F	USH2A_uc001hkv.3_Missense_Mutation_p.S1122F	NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	1122	Fibronectin type-III 1.				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)		AATGTAATAGGAATATTTGGT	0.363000										HNSCC(13;0.011)				47			26		0	0	0.004656	0	0
abParts	0	broad.mit.edu	37	14	107062535	107062535	+	RNA	SNP	C	G	G			TCGA-BQ-7045-01A-31D-1961-08	TCGA-BQ-7045-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	413a9e10-cac7-4b6c-91cd-b58fd4499c07	0ed1c015-2f52-4269-98d4-b78e9323f29c	g.chr14:107062535C>G	uc021ser.1	-	149		c.6534G>C								Parts of antibodies, mostly variable regions.																		CTGCCACCAGCAGGAGGAAGA	0.512000														55			3		0	0	0.004672	0	0
CTH	1491	broad.mit.edu	37	1	70895506	70895506	+	Silent	SNP	T	C	C			TCGA-BQ-7045-01A-31D-1961-08	TCGA-BQ-7045-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	413a9e10-cac7-4b6c-91cd-b58fd4499c07	0ed1c015-2f52-4269-98d4-b78e9323f29c	g.chr1:70895506T>C	uc001dfd.3	+	5	816	c.618T>C	c.(616-618)tcT>tcC	p.S206S	CTH_uc009wbl.2_Non-coding_Transcript|CTH_uc010oqq.2_Silent_p.S174S|CTH_uc001dfe.3_Silent_p.S162S	NM_001902	NP_001893	P32929	CGL_HUMAN	Homo sapiens cystathionase (cystathionine gamma-lyase) (CTH), transcript variant 1, mRNA.	206					cysteine biosynthetic process|hydrogen sulfide biosynthetic process|protein homotetramerization|protein-pyridoxal-5-phosphate linkage via peptidyl-N6-pyridoxal phosphate-L-lysine	cytoplasm|nucleus	L-cysteine desulfhydrase activity|cystathionine gamma-lyase activity|pyridoxal phosphate binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	18					L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114)	CTGATATTTCTATGTATTCTG	0.353000														44			18		0	0	0.001882	0	0
PRKG2	5593	broad.mit.edu	37	4	82074809	82074809	+	Missense_Mutation	SNP	C	A	A			TCGA-BQ-7045-01A-31D-1961-08	TCGA-BQ-7045-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	413a9e10-cac7-4b6c-91cd-b58fd4499c07	0ed1c015-2f52-4269-98d4-b78e9323f29c	g.chr4:82074809C>A	uc003hmh.2	-	5	992	c.979G>T	c.(979-981)Gca>Tca	p.A327S	PRKG2_uc011ccf.1_5'UTR|PRKG2_uc011ccg.1_5'UTR|PRKG2_uc011cch.1_Missense_Mutation_p.A327S	NM_006259	NP_006250	Q13237	KGP2_HUMAN	Homo sapiens protein kinase, cGMP-dependent, type II (PRKG2), mRNA.	327					platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity			NS(1)|breast(4)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	37						TTTCCTTTTGCCAAAATGAAA	0.328000														42			8		0.000274275	0.000650032	0.004482	1	0
CDHR1	92211	broad.mit.edu	37	10	85968003	85968003	+	Missense_Mutation	SNP	T	C	C			TCGA-BQ-7045-01A-31D-1961-08	TCGA-BQ-7045-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	413a9e10-cac7-4b6c-91cd-b58fd4499c07	0ed1c015-2f52-4269-98d4-b78e9323f29c	g.chr10:85968003T>C	uc001kcv.3	+	10	1142	c.1037T>C	c.(1036-1038)cTc>cCc	p.L346P	CDHR1_uc001kcw.3_Missense_Mutation_p.L346P|CDHR1_uc009xst.3_Missense_Mutation_p.L105P	NM_033100	NP_149091	Q96JP9	CDHR1_HUMAN	Homo sapiens cadherin-related family member 1 (CDHR1), transcript variant 1, mRNA.	346	Cadherin 3.				homophilic cell adhesion		calcium ion binding|receptor activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						ATTGTGGACCTCAACAACCAC	0.602000														67			3		0	0	0.004672	0	0
NDUFS6	4726	broad.mit.edu	37	5	1801592	1801592	+	Missense_Mutation	SNP	C	A	A			TCGA-BQ-7045-01A-31D-1961-08	TCGA-BQ-7045-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	413a9e10-cac7-4b6c-91cd-b58fd4499c07	0ed1c015-2f52-4269-98d4-b78e9323f29c	g.chr5:1801592C>A	uc003jcy.3	+	0	97	c.61C>A	c.(61-63)Ctg>Atg	p.L21M	MRPL36_uc003jcx.4_5'Flank|MRPL36_uc021xwh.1_5'Flank	NM_004553	NP_004544	O75380	NDUS6_HUMAN	Homo sapiens NADH dehydrogenase (ubiquinone) Fe-S protein 6, 13kDa (NADH-coenzyme Q reductase) (NDUFS6), nuclear gene encoding mitochondrial protein, mRNA.	21					mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity|electron carrier activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|prostate(1)	7					NADH(DB00157)	GGCGCGGAGCCTGCCCCTGGG	0.701000														18			17		3.99206e-14	1.02839e-13	0.007413	1	0
FERMT2	10979	broad.mit.edu	37	14	53386065	53386065	+	Missense_Mutation	SNP	T	A	A			TCGA-BQ-7045-01A-31D-1961-08	TCGA-BQ-7045-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	413a9e10-cac7-4b6c-91cd-b58fd4499c07	0ed1c015-2f52-4269-98d4-b78e9323f29c	g.chr14:53386065T>A	uc001xac.3	-	2	353	c.167A>T	c.(166-168)aAa>aTa	p.K56I	FERMT2_uc001xad.3_Missense_Mutation_p.K56I|FERMT2_uc001xae.3_Missense_Mutation_p.K56I|FERMT2_uc001xaf.3_Missense_Mutation_p.K56I	NM_001134999	NP_001128471	Q96AC1	FERM2_HUMAN	Homo sapiens fermitin family member 2 (FERMT2), transcript variant 2, mRNA.	56					actin cytoskeleton organization|cell adhesion|cell junction assembly|regulation of cell shape	cell cortex|cytosol|focal adhesion|stress fiber	binding		ERO1L/FERMT2(2)	NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20	Breast(41;0.0342)					AGACCAATCTTTTTTTACATC	0.333000														60			26		0	0	0.003954	0	0
CRTAP	10491	broad.mit.edu	37	3	33156008	33156008	+	Missense_Mutation	SNP	C	T	T			TCGA-BQ-7045-01A-31D-1961-08	TCGA-BQ-7045-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	413a9e10-cac7-4b6c-91cd-b58fd4499c07	0ed1c015-2f52-4269-98d4-b78e9323f29c	g.chr3:33156008C>T	uc003cfl.4	+	0	559	c.439C>T	c.(439-441)Ccc>Tcc	p.P147S	CRTAP_uc010hfz.3_Missense_Mutation_p.P147S|CRTAP_uc003cfn.3_5'UTR	NM_006371	NP_006362	O75718	CRTAP_HUMAN	Homo sapiens cartilage associated protein (CRTAP), mRNA.	147						proteinaceous extracellular matrix	binding			breast(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	9						GCGCCGCGAGCCCTACAAGTT	0.726000														19			11		0	0	0.001855	0	0
APOL1	8542	broad.mit.edu	37	22	36661665	36661665	+	Silent	SNP	C	T	T			TCGA-BQ-7045-01A-31D-1961-08	TCGA-BQ-7045-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	413a9e10-cac7-4b6c-91cd-b58fd4499c07	0ed1c015-2f52-4269-98d4-b78e9323f29c	g.chr22:36661665C>T	uc003ape.3	+	6	1105	c.831C>T	c.(829-831)aaC>aaT	p.N277N	APOL1_uc011amn.1_Silent_p.N138N|APOL1_uc021wom.1_Non-coding_Transcript|APOL1_uc011amo.2_Silent_p.N138N|APOL1_uc003apf.3_Silent_p.N261N|APOL1_uc011amp.2_Silent_p.N261N|APOL1_uc011amq.2_Silent_p.N243N|APOL1_uc010gwx.3_Silent_p.N138N	NM_145343	NP_003652	O14791	APOL1_HUMAN	Homo sapiens apolipoprotein L, 1 (APOL1), transcript variant 2, mRNA.	261					cholesterol metabolic process|cytolysis|innate immune response|killing of cells of other organism|lipid transport|lipoprotein metabolic process	high-density lipoprotein particle|very-low-density lipoprotein particle	chloride channel activity|lipid binding|protein binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	14						TGGGTGAGAACATATCCAACT	0.498000														36			16		0	0	0.004007	0	0
GPC6	10082	broad.mit.edu	37	13	94482740	94482740	+	Missense_Mutation	SNP	C	G	G			TCGA-BQ-7045-01A-31D-1961-08	TCGA-BQ-7045-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	413a9e10-cac7-4b6c-91cd-b58fd4499c07	0ed1c015-2f52-4269-98d4-b78e9323f29c	g.chr13:94482740C>G	uc001vlt.3	+	2	1285	c.653C>G	c.(652-654)gCc>gGc	p.A218G	GPC6_uc010tig.1_Missense_Mutation_p.A218G|GPC6_uc001vlu.1_Missense_Mutation_p.A148G	NM_005708	NP_005699	Q9Y625	GPC6_HUMAN	Homo sapiens glypican 6 (GPC6), mRNA.	218						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	38	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217)				TTCATTGCTGCCAGGACCTTT	0.498000														31			15		0	0	0.004990	0	0
RAP2A	5911	broad.mit.edu	37	13	98086836	98086836	+	Missense_Mutation	SNP	G	A	A			TCGA-BQ-7045-01A-31D-1961-08	TCGA-BQ-7045-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	413a9e10-cac7-4b6c-91cd-b58fd4499c07	0ed1c015-2f52-4269-98d4-b78e9323f29c	g.chr13:98086836G>A	uc001vnd.3	+	0	362	c.112G>A	c.(112-114)Gac>Aac	p.D38N		NM_021033	NP_066361	P10114	RAP2A_HUMAN	Homo sapiens RAP2A, member of RAS oncogene family (RAP2A), mRNA.	38					Rap protein signal transduction|actin cytoskeleton reorganization|cellular protein localization|establishment of protein localization|positive regulation of protein autophosphorylation|regulation of JNK cascade|regulation of dendrite morphogenesis	recycling endosome membrane	GTP binding|GTPase activity|protein binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.166)			CACCATCGAGGACTTCTACCG	0.627000														98			50		0	0	0.003610	0	0
CHCHD3	54927	broad.mit.edu	37	7	132523165	132523165	+	Missense_Mutation	SNP	T	G	G			TCGA-BQ-7045-01A-31D-1961-08	TCGA-BQ-7045-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	413a9e10-cac7-4b6c-91cd-b58fd4499c07	0ed1c015-2f52-4269-98d4-b78e9323f29c	g.chr7:132523165T>G	uc022alw.1	-	6	664	c.533A>C	c.(532-534)aAg>aCg	p.K178T	CHCHD3_uc003vre.3_Missense_Mutation_p.K173T|CHCHD3_uc010lmi.3_Non-coding_Transcript	NM_017812	NP_060282	Q9NX63	CHCH3_HUMAN	Homo sapiens coiled-coil-helix-coiled-coil-helix domain containing 3 (CHCHD3), mRNA.	173	CHCH.				inner mitochondrial membrane organization|mitochondrial fusion	mitochondrial inner membrane	protein complex scaffold			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	7						TTACTTGAACTTTGCTTCCAC	0.333000														29			30		0	0	0.002096	0	0
TMEM101	84336	broad.mit.edu	37	17	42089524	42089524	+	Silent	SNP	C	T	T			TCGA-BQ-7045-01A-31D-1961-08	TCGA-BQ-7045-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	413a9e10-cac7-4b6c-91cd-b58fd4499c07	0ed1c015-2f52-4269-98d4-b78e9323f29c	g.chr17:42089524C>T	uc002ieu.3	-	3	571	c.546G>A	c.(544-546)ctG>ctA	p.L182L	TMEM101_uc010wis.2_Silent_p.L124L	NM_032376	NP_115752	Q96IK0	TM101_HUMAN	Homo sapiens transmembrane protein 101 (TMEM101), mRNA.	182					positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane	signal transducer activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		Breast(137;0.0264)|Prostate(33;0.0861)		BRCA - Breast invasive adenocarcinoma(366;0.113)		GCACGAAGAACAGCTGGATCA	0.587000														76			21		0	0	0.003330	0	0
USP19	10869	broad.mit.edu	37	3	49148709	49148709	+	Missense_Mutation	SNP	C	T	T			TCGA-BQ-7045-01A-31D-1961-08	TCGA-BQ-7045-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	413a9e10-cac7-4b6c-91cd-b58fd4499c07	0ed1c015-2f52-4269-98d4-b78e9323f29c	g.chr3:49148709C>T	uc003cwd.2	-	20	3317	c.2998G>A	c.(2998-3000)Gag>Aag	p.E1000K	USP19_uc003cwa.3_Missense_Mutation_p.E808K|USP19_uc003cwb.3_Intron|USP19_uc003cvz.4_Missense_Mutation_p.E1103K|USP19_uc011bcg.2_Missense_Mutation_p.E1091K|USP19_uc003cwc.2_Missense_Mutation_p.E758K|USP19_uc011bch.2_Missense_Mutation_p.E1101K	NM_006677	NP_006668	O94966	UBP19_HUMAN	Homo sapiens ubiquitin specific peptidase 19 (USP19), transcript variant 4, mRNA.	1000					ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy	endoplasmic reticulum membrane|integral to membrane	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		AGCCGCTGCTCTCGGTTGGAT	0.547000														49			45		0	0	0.003610	0	0
KRTAP13-1	140258	broad.mit.edu	37	21	31768620	31768620	+	Missense_Mutation	SNP	G	T	T			TCGA-BQ-7045-01A-31D-1961-08	TCGA-BQ-7045-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	413a9e10-cac7-4b6c-91cd-b58fd4499c07	0ed1c015-2f52-4269-98d4-b78e9323f29c	g.chr21:31768620G>T	uc002yoa.3	+	0	229	c.216G>T	c.(214-216)gaG>gaT	p.E72D		NM_181599	NP_853630	Q8IUC0	KR131_HUMAN	Homo sapiens keratin associated protein 13-1 (KRTAP13-1), mRNA.	72	5 X 10 AA approximate repeats.					intermediate filament				endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CCTATGTGGAGTCCAGCCCCT	0.602000														46			23		1.85244e-09	4.47988e-09	0.003330	1	0
ABCA4	24	broad.mit.edu	37	1	94528186	94528186	+	Silent	SNP	A	T	T			TCGA-BQ-7045-01A-31D-1961-08	TCGA-BQ-7045-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	413a9e10-cac7-4b6c-91cd-b58fd4499c07	0ed1c015-2f52-4269-98d4-b78e9323f29c	g.chr1:94528186A>T	uc001dqh.3	-	12	1988	c.1884T>A	c.(1882-1884)gcT>gcA	p.A628A	ABCA4_uc010otn.1_Silent_p.A628A	NM_000350	NP_000341	P78363	ABCA4_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 4 (ABCA4), mRNA.	628					phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		TTCCAACTGGAGCCTCCGCCT	0.572000														34			14		0	0	0.003163	0	0
AB1	0	broad.mit.edu	37	1	16889992	16889992	+	RNA	SNP	G	A	A			TCGA-BQ-7045-01A-31D-1961-08	TCGA-BQ-7045-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	413a9e10-cac7-4b6c-91cd-b58fd4499c07	0ed1c015-2f52-4269-98d4-b78e9323f29c	g.chr1:16889992G>A	uc001ayw.3	-	0		c.91C>T								Homo sapiens AB5 mRNA, 3' untranslated region.																		CTGTGTTAAAGATGGATCAGC	0.418000														12			5		0	0	0.000602	0	0
ZNF626	199777	broad.mit.edu	37	19	20808028	20808028	+	Missense_Mutation	SNP	G	A	A			TCGA-BQ-7045-01A-31D-1961-08	TCGA-BQ-7045-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	413a9e10-cac7-4b6c-91cd-b58fd4499c07	0ed1c015-2f52-4269-98d4-b78e9323f29c	g.chr19:20808028G>A	uc002npb.1	-	3	805	c.655C>T	c.(655-657)Cat>Tat	p.H219Y	ZNF626_uc002npc.1_Missense_Mutation_p.H143Y	NM_001076675	NP_001070143	Q68DY1	ZN626_HUMAN	Homo sapiens zinc finger protein 626 (ZNF626), transcript variant 1, mRNA.	219					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|lung(3)|skin(1)	6						ATTTTCTTATGTCTAGTAAGG	0.383000														33			11		0	0	0.008291	0	0
TRPV6	55503	broad.mit.edu	37	7	142569741	142569741	+	Splice_Site	SNP	C	A	A			TCGA-BQ-7045-01A-31D-1961-08	TCGA-BQ-7045-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	413a9e10-cac7-4b6c-91cd-b58fd4499c07	0ed1c015-2f52-4269-98d4-b78e9323f29c	g.chr7:142569741C>A	uc003wbx.2	-	15	2125	c.1896_splice	c.e15-1	p.R632_splice	TRPV6_uc003wbw.1_Splice_Site_p.R418_splice|TRPV6_uc010lou.1_Splice_Site_p.R503_splice	NM_018646	NP_061116	Q9H1D0	TRPV6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 6 (TRPV6), mRNA.	632					regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					CTGTCTTCCACCCTGTGGAAT	0.557000														96			20		5.35356e-11	1.34978e-10	0.002780	1	0
ZNF700	90592	broad.mit.edu	37	19	12089881	12089881	+	Missense_Mutation	SNP	T	C	C			TCGA-BQ-7045-01A-31D-1961-08	TCGA-BQ-7045-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	413a9e10-cac7-4b6c-91cd-b58fd4499c07	0ed1c015-2f52-4269-98d4-b78e9323f29c	g.chr19:12089881T>C	uc010xmf.2	+	3	1328	c.1202T>C	c.(1201-1203)tTt>tCt	p.F401S	ZNF700_uc002msv.3_Missense_Mutation_p.F384S|ZNF700_uc002msw.3_Missense_Mutation_p.F381S|ZNF700_uc010xmg.2_Missense_Mutation_p.F259S	NM_001012753	NP_001012771	Q9H0M5	ZN700_HUMAN	Homo sapiens zinc finger protein 763 (ZNF763), mRNA.	0					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding		ZNF700/MAST1_ENST00000251472(2)	breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	33						TCTTATAAGTTTTCAAACACA	0.398000														77			50		0	0	0.003610	0	0
ANKRD20A5P	440482	broad.mit.edu	37	18	14184029	14184029	+	Silent	SNP	T	C	C			TCGA-BQ-7045-01A-31D-1961-08	TCGA-BQ-7045-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	413a9e10-cac7-4b6c-91cd-b58fd4499c07	0ed1c015-2f52-4269-98d4-b78e9323f29c	g.chr18:14184029T>C	uc010xag.2	+	2	718	c.420T>C	c.(418-420)gcT>gcC	p.A140A	ANKRD20A5P_uc002ksw.2_Non-coding_Transcript|ANKRD20A5P_uc002ksv.2_Missense_Mutation_p.L19P					Homo sapiens ankyrin repeat domain 20 family, member A5, pseudogene (ANKRD20A5P), non-coding RNA.											lung(3)	3						TCCATTATGCTGTGTATAGTG	0.438000														276			7		0	0	0.004482	0	0
SLC5A9	200010	broad.mit.edu	37	1	48708165	48708165	+	Missense_Mutation	SNP	C	T	T			TCGA-BQ-7045-01A-31D-1961-08	TCGA-BQ-7045-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	413a9e10-cac7-4b6c-91cd-b58fd4499c07	0ed1c015-2f52-4269-98d4-b78e9323f29c	g.chr1:48708165C>T	uc001crn.2	+	13	1841	c.1789C>T	c.(1789-1791)Ctc>Ttc	p.L597F	SLC5A9_uc001cro.2_Missense_Mutation_p.L572F|SLC5A9_uc010omt.1_Missense_Mutation_p.L586F|SLC5A9_uc001crp.2_Missense_Mutation_p.L239F|SLC5A9_uc010omu.1_Missense_Mutation_p.L239F|SLC5A9_uc009vyt.1_Non-coding_Transcript	NM_001135181	NP_001128653	Q2M3M2	SC5A9_HUMAN	Homo sapiens solute carrier family 5 (sodium/glucose cotransporter), member 9 (SLC5A9), transcript variant 1, mRNA.	572						integral to membrane|plasma membrane	low-affinity glucose:sodium symporter activity			breast(1)|endometrium(3)|large_intestine(4)|liver(2)|lung(11)|ovary(3)|prostate(1)|urinary_tract(1)	26						GAACTGCCCCCTCTCTGAGCT	0.597000														126			8		0	0	0.003080	0	0
NUB1	51667	broad.mit.edu	37	7	151064971	151064971	+	Missense_Mutation	SNP	C	A	A			TCGA-BQ-7045-01A-31D-1961-08	TCGA-BQ-7045-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	413a9e10-cac7-4b6c-91cd-b58fd4499c07	0ed1c015-2f52-4269-98d4-b78e9323f29c	g.chr7:151064971C>A	uc003wjx.3	+	9	1100	c.1084C>A	c.(1084-1086)Ctg>Atg	p.L362M	NUB1_uc003wjw.3_Missense_Mutation_p.L338M|AK055458_uc003wjz.1_Non-coding_Transcript	NM_001243351	NP_001230280	Q9Y5A7	NUB1_HUMAN	Homo sapiens negative regulator of ubiquitin-like proteins 1 (NUB1), transcript variant 1, mRNA.	338					positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|response to interferon-gamma|response to tumor necrosis factor|ubiquitin-dependent protein catabolic process	nucleus	protein binding			endometrium(1)|large_intestine(7)|lung(3)	11			OV - Ovarian serous cystadenocarcinoma(82;0.00569)	UCEC - Uterine corpus endometrioid carcinoma (81;0.172)		AGAGAAGGTACTGTTTCTAAG	0.323000											OREG0018452	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		17			5		0.00116845	0.0027418	0.001168	1	0
ZSWIM4	65249	broad.mit.edu	37	19	13915960	13915960	+	Missense_Mutation	SNP	A	G	G			TCGA-BQ-7045-01A-31D-1961-08	TCGA-BQ-7045-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	413a9e10-cac7-4b6c-91cd-b58fd4499c07	0ed1c015-2f52-4269-98d4-b78e9323f29c	g.chr19:13915960A>G	uc002mxh.1	+	2	899	c.710A>G	c.(709-711)aAt>aGt	p.N237S	ZSWIM4_uc010xng.1_Missense_Mutation_p.N43S	NM_023072	NP_075560	Q9H7M6	ZSWM4_HUMAN	Homo sapiens zinc finger, SWIM-type containing 4 (ZSWIM4), mRNA.	237							zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27			OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19)			AACTTGGTGAATGGTAAGGGC	0.607000											OREG0025298	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		39			13		0	0	0.002450	0	0
GOLGA2	2801	broad.mit.edu	37	9	131028577	131028577	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BQ-7045-01A-31D-1961-08	TCGA-BQ-7045-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	413a9e10-cac7-4b6c-91cd-b58fd4499c07	0ed1c015-2f52-4269-98d4-b78e9323f29c	g.chr9:131028577G>A	uc011maw.2	-	7	602	c.589C>T	c.(589-591)Cag>Tag	p.Q197*	GOLGA2_uc010mxw.3_Intron|GOLGA2_uc004bul.1_Nonsense_Mutation_p.Q98*|GOLGA2_uc004bum.1_Nonsense_Mutation_p.Q71*	NM_004486	NP_004477	Q08379	GOGA2_HUMAN	Homo sapiens golgin A2 (GOLGA2), mRNA.	197						Golgi cisterna membrane	protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34						TCTTCCAACTGATCCGTAATT	0.498000														56			32		0	0	0.002836	0	0
ASXL3	80816	broad.mit.edu	37	18	31263418	31263418	+	Silent	SNP	A	G	G			TCGA-BQ-7045-01A-31D-1961-08	TCGA-BQ-7045-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	413a9e10-cac7-4b6c-91cd-b58fd4499c07	0ed1c015-2f52-4269-98d4-b78e9323f29c	g.chr18:31263418A>G	uc010dmg.1	+	7	820	c.765A>G	c.(763-765)ggA>ggG	p.G255G	ASXL3_uc002kxq.2_5'UTR	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	Homo sapiens additional sex combs like 3 (Drosophila) (ASXL3), mRNA.	255					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						AAACCCCAGGATCTATTCTTG	0.418000														35			12		0	0	0.001855	0	0
KIAA1522	57648	broad.mit.edu	37	1	33236795	33236795	+	Missense_Mutation	SNP	C	A	A			TCGA-BQ-7045-01A-31D-1961-08	TCGA-BQ-7045-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	413a9e10-cac7-4b6c-91cd-b58fd4499c07	0ed1c015-2f52-4269-98d4-b78e9323f29c	g.chr1:33236795C>A	uc001bvu.1	+	5	2059	c.2015C>A	c.(2014-2016)cCa>cAa	p.P672Q	KIAA1522_uc010ohm.1_Missense_Mutation_p.P624Q|KIAA1522_uc001bvv.2_Missense_Mutation_p.P613Q|KIAA1522_uc010ohn.1_Intron	NM_020888	NP_065939	Q9P206	K1522_HUMAN	Homo sapiens KIAA1522 (KIAA1522), transcript variant 1, mRNA.	613	Pro-rich.									breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				CCCTTCTCCCCACCTCCCTCC	0.647000														73			33		3.33393e-15	8.77936e-15	0.004878	1	0
GPR18	2841	broad.mit.edu	37	13	99907879	99907879	+	Missense_Mutation	SNP	G	A	A			TCGA-BQ-7045-01A-31D-1961-08	TCGA-BQ-7045-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	413a9e10-cac7-4b6c-91cd-b58fd4499c07	0ed1c015-2f52-4269-98d4-b78e9323f29c	g.chr13:99907879G>A	uc001voe.4	-	2	907	c.248C>T	c.(247-249)gCa>gTa	p.A83V	UBAC2_uc001voa.4_Intron|UBAC2_uc010tiu.2_Intron|UBAC2_uc001vob.4_Intron|UBAC2_uc010tiv.2_Intron|UBAC2_uc001vod.3_Intron|UBAC2_uc001voc.3_Intron|UBAC2_uc010tiw.2_Intron|MIR548AN_uc021rly.1_Intron|GPR18_uc010afv.3_Missense_Mutation_p.A83V|GPR18_uc021rlz.1_Missense_Mutation_p.A83V	NM_005292	NP_005283	Q14330	GPR18_HUMAN	Homo sapiens G protein-coupled receptor 18 (GPR18), transcript variant 1, mRNA.	83						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(2)|large_intestine(2)|lung(6)	10	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Glycine(DB00145)	TTCATCTTTTGCATAATAAAA	0.383000														45			17		0	0	0.004007	0	0
SLC7A1	6541	broad.mit.edu	37	13	30096467	30096467	+	Silent	SNP	C	T	T	rs150705194		TCGA-BQ-7045-01A-31D-1961-08	TCGA-BQ-7045-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	413a9e10-cac7-4b6c-91cd-b58fd4499c07	0ed1c015-2f52-4269-98d4-b78e9323f29c	g.chr13:30096467C>T	uc001uso.3	-	7	1563	c.1176G>A	c.(1174-1176)tcG>tcA	p.S392S		NM_003045	NP_003036	P30825	CTR1_HUMAN	Homo sapiens solute carrier family 7 (cationic amino acid transporter, y+ system), member 1 (SLC7A1), mRNA.	392					cellular nitrogen compound metabolic process|ion transport	integral to plasma membrane	receptor activity	p.S392S(2)|p.S392*(1)		endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|stomach(1)|urinary_tract(2)	24		Lung SC(185;0.0257)|Breast(139;0.238)		all cancers(112;0.0148)|OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(112;0.0875)|GBM - Glioblastoma multiforme(144;0.179)	L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	CAACGGCACCCGAGGCTAATG	0.458000														144			54		0	0	0.003610	0	0
OSTC	58505	broad.mit.edu	37	4	109571838	109571838	+	Silent	SNP	C	T	T			TCGA-BQ-7045-01A-31D-1961-08	TCGA-BQ-7045-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	413a9e10-cac7-4b6c-91cd-b58fd4499c07	0ed1c015-2f52-4269-98d4-b78e9323f29c	g.chr4:109571838C>T	uc003hzb.1	+	0	98	c.27C>T	c.(25-27)ttC>ttT	p.F9F		NM_021227	NP_067050	Q9NRP0	OSTC_HUMAN	Homo sapiens oligosaccharyltransferase complex subunit (OSTC), mRNA.	9			F -> L (in a breast cancer sample; somatic mutation).			integral to membrane|oligosaccharyltransferase complex		p.F9L(2)|p.P8S(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(3)	6						GTGTCCCGTTCTTAGTGCTCG	0.597000														72			34		0	0	0.003755	0	0
TNRC6B	23112	broad.mit.edu	37	22	40669533	40669533	+	Missense_Mutation	SNP	A	G	G			TCGA-BQ-7045-01A-31D-1961-08	TCGA-BQ-7045-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	413a9e10-cac7-4b6c-91cd-b58fd4499c07	0ed1c015-2f52-4269-98d4-b78e9323f29c	g.chr22:40669533A>G	uc011aor.2	+	6	3281	c.3070A>G	c.(3070-3072)Act>Gct	p.T1024A	TNRC6B_uc003aym.3_Missense_Mutation_p.T277A|TNRC6B_uc003ayn.4_Missense_Mutation_p.T971A|TNRC6B_uc003ayo.3_Missense_Mutation_p.T828A	NM_001162501	NP_001155973	Q9UPQ9	TNR6B_HUMAN	Homo sapiens trinucleotide repeat containing 6B (TNRC6B), transcript variant 1, mRNA.	1024					gene silencing by RNA|regulation of translation	cytoplasmic mRNA processing body	RNA binding|nucleotide binding			breast(1)	1						CTGGAACACCACTGGCTCTCA	0.562000														8			4		0	0	0.000602	0	0
ASTN2	23245	broad.mit.edu	37	9	119202962	119202962	+	Silent	SNP	G	T	T			TCGA-BQ-7045-01A-31D-1961-08	TCGA-BQ-7045-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	413a9e10-cac7-4b6c-91cd-b58fd4499c07	0ed1c015-2f52-4269-98d4-b78e9323f29c	g.chr9:119202962G>T	uc004bjt.2	-	20	3656	c.3555C>A	c.(3553-3555)gtC>gtA	p.V1185V	ASTN2_uc022bml.1_Silent_p.V881V|ASTN2_uc022bmm.1_Silent_p.V885V|ASTN2_uc004bjp.2_Silent_p.V337V|ASTN2_uc011lxr.2_Silent_p.V288V|ASTN2_uc011lxs.2_Silent_p.V288V|ASTN2_uc011lxt.2_Silent_p.V288V|ASTN2_uc004bjq.2_Silent_p.V288V	NM_014010	NP_054729	O75129	ASTN2_HUMAN	Homo sapiens astrotactin 2 (ASTN2), transcript variant 1, mRNA.	1236	Fibronectin type-III.					integral to membrane		p.R1184*(1)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						AGTGGTGCTGGACTCGGAACA	0.502000														69			42		6.4771e-29	1.78497e-28	0.002522	1	0
CCM2	83605	broad.mit.edu	37	7	45104062	45104062	+	Splice_Site	SNP	A	G	G			TCGA-BQ-7045-01A-31D-1961-08	TCGA-BQ-7045-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	413a9e10-cac7-4b6c-91cd-b58fd4499c07	0ed1c015-2f52-4269-98d4-b78e9323f29c	g.chr7:45104062A>G	uc003tms.3	+	4	423	c.352_splice	c.e4-1	p.R118_splice	CCM2_uc003tmn.3_Splice_Site|CCM2_uc003tmo.3_Splice_Site_p.R97_splice|CCM2_uc003tmp.3_Splice_Site_p.R39_splice|CCM2_uc003tmr.3_Splice_Site_p.R97_splice|CCM2_uc011kcb.2_Splice_Site_p.R60_splice|CCM2_uc011kcc.2_Splice_Site_p.R90_splice	NM_001029835	NP_001025006	Q9BSQ5	CCM2_HUMAN	Homo sapiens cerebral cavernous malformation 2 (CCM2), transcript variant 1, mRNA.	97	PID.				endothelial tube morphogenesis|integrin-mediated signaling pathway|stress-activated MAPK cascade|vasculogenesis	cytoplasm	protein binding			NS(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						TTCCTTCCAGAGAGCCCACCA	0.567000														49			7		0	0	0.006214	0	0
PPM1F	9647	broad.mit.edu	37	22	22287929	22287929	+	Missense_Mutation	SNP	A	G	G			TCGA-BQ-7045-01A-31D-1961-08	TCGA-BQ-7045-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	413a9e10-cac7-4b6c-91cd-b58fd4499c07	0ed1c015-2f52-4269-98d4-b78e9323f29c	g.chr22:22287929A>G	uc002zvp.2	-	4	728	c.581T>C	c.(580-582)tTt>tCt	p.F194S	PPM1F_uc011aik.2_Missense_Mutation_p.F90S|PPM1F_uc002zvq.3_Missense_Mutation_p.F194S	NM_014634	NP_055449	P49593	PPM1F_HUMAN	Homo sapiens protein phosphatase, Mg2+/Mn2+ dependent, 1F (PPM1F), mRNA.	194					apoptosis|protein dephosphorylation	protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	12	Colorectal(54;0.105)			READ - Rectum adenocarcinoma(21;0.155)		AAACACAGCAAAGTAGGCGCG	0.667000														27			21		0	0	0.002299	0	0
HTR2B	3357	broad.mit.edu	37	2	231988374	231988374	+	Missense_Mutation	SNP	C	A	A			TCGA-BQ-7045-01A-31D-1961-08	TCGA-BQ-7045-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	413a9e10-cac7-4b6c-91cd-b58fd4499c07	0ed1c015-2f52-4269-98d4-b78e9323f29c	g.chr2:231988374C>A	uc002vro.3	-	1	610	c.105G>T	c.(103-105)caG>caT	p.Q35H	PSMD1_uc002vrn.2_Intron|PSMD1_uc002vrm.2_Intron|PSMD1_uc010fxu.2_Intron|HTR2B_uc010fxv.3_Missense_Mutation_p.Q35H	NM_000867	NP_000858	P41595	5HT2B_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 2B (HTR2B), mRNA.	35					ERK1 and ERK2 cascade|G-protein coupled receptor internalization|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cGMP biosynthetic process|calcium-mediated signaling|cardiac muscle hypertrophy|cellular response to calcium ion|cellular response to temperature stimulus|embryonic morphogenesis|heart morphogenesis|intestine smooth muscle contraction|negative regulation of apoptosis|negative regulation of autophagy|neural crest cell migration|phosphatidylinositol 3-kinase cascade|phosphatidylinositol biosynthetic process|phosphorylation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAP kinase activity|positive regulation of cell division|positive regulation of cytokine production|positive regulation of cytokine secretion|positive regulation of endothelial cell proliferation|positive regulation of nitric-oxide synthase activity|protein kinase C signaling cascade|regulation of behavior|release of sequestered calcium ion into cytosol|response to drug|vasoconstriction	cytoplasm|integral to membrane|plasma membrane	G-protein alpha-subunit binding|Ras GTPase activator activity|calcium channel activity|drug binding|phosphatidylinositol phospholipase C activity|serotonin binding|serotonin receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1)	11		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)|Medulloblastoma(418;0.232)		Epithelial(121;4.48e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0141)	Chlorprothixene(DB01239)|Eletriptan(DB00216)|Fenfluramine(DB00574)|Methotrimeprazine(DB01403)|Minaprine(DB00805)|Quetiapine(DB01224)|Sumatriptan(DB00669)|Tegaserod(DB01079)|Triflupromazine(DB00508)	TTGATTCTGTCTGTAATCCAG	0.418000														87			43		1.34996e-11	3.44023e-11	0.002222	1	0
BZRAP1	9256	broad.mit.edu	37	17	56386306	56386306	+	Missense_Mutation	SNP	G	T	T			TCGA-BQ-7045-01A-31D-1961-08	TCGA-BQ-7045-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	413a9e10-cac7-4b6c-91cd-b58fd4499c07	0ed1c015-2f52-4269-98d4-b78e9323f29c	g.chr17:56386306G>T	uc002ivx.4	-	21	5198	c.4327C>A	c.(4327-4329)Ctg>Atg	p.L1443M	BZRAP1_uc002ivw.3_5'Flank|BZRAP1_uc010dcs.3_Missense_Mutation_p.L1383M|BZRAP1_uc010wnt.2_Missense_Mutation_p.L1443M	NM_004758	NP_004749	O95153	RIMB1_HUMAN	Homo sapiens benzodiazapine receptor (peripheral) associated protein 1 (BZRAP1), transcript variant 1, mRNA.	1443						mitochondrion	benzodiazepine receptor binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GTGGGGCCCAGTCGTCCAGAG	0.692000														98			34		5.91797e-21	1.59382e-20	0.002445	1	0
NDUFV3	4731	broad.mit.edu	37	21	44317078	44317078	+	Silent	SNP	T	C	C			TCGA-BQ-7045-01A-31D-1961-08	TCGA-BQ-7045-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	413a9e10-cac7-4b6c-91cd-b58fd4499c07	0ed1c015-2f52-4269-98d4-b78e9323f29c	g.chr21:44317078T>C	uc002zcm.3	+	1	156	c.90T>C	c.(88-90)tcT>tcC	p.S30S	NDUFV3_uc002zcn.3_Silent_p.S30S	NM_021075	NP_066553	P56181	NDUV3_HUMAN	Homo sapiens NADH dehydrogenase (ubiquinone) flavoprotein 3, 10kDa (NDUFV3), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	30					mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I|nucleus	NADH dehydrogenase (ubiquinone) activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	10				STAD - Stomach adenocarcinoma(101;0.0606)	NADH(DB00157)	GACTTGCTTCTACGGTTTCTT	0.413000														54			21		0	0	0.003330	0	0
ATP10A	57194	broad.mit.edu	37	15	25924510	25924510	+	Missense_Mutation	SNP	G	A	A			TCGA-BQ-7045-01A-31D-1961-08	TCGA-BQ-7045-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	413a9e10-cac7-4b6c-91cd-b58fd4499c07	0ed1c015-2f52-4269-98d4-b78e9323f29c	g.chr15:25924510G>A	uc010ayu.3	-	20	4584	c.4478C>T	c.(4477-4479)gCa>gTa	p.A1493V		NM_024490	NP_077816	O60312	AT10A_HUMAN	Homo sapiens ATPase, class V, type 10A (ATP10A), mRNA.	1493					ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		CCTTGAAGATGCTCCTATAAG	0.423000														54			22		0	0	0.001882	0	0
OR4K2	390431	broad.mit.edu	37	14	20345257	20345257	+	Silent	SNP	C	A	A			TCGA-BQ-7045-01A-31D-1961-08	TCGA-BQ-7045-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	413a9e10-cac7-4b6c-91cd-b58fd4499c07	0ed1c015-2f52-4269-98d4-b78e9323f29c	g.chr14:20345257C>A	uc001vwh.1	+	0	831	c.831C>A	c.(829-831)atC>atA	p.I277I		NM_001005501	NP_001005501	Q8NGD2	OR4K2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 2 (OR4K2), mRNA.	277					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TTTATACCATCTTTACTCCCA	0.368000														107			26		7.01153e-11	1.73097e-10	0.007291	1	0
JAKMIP2	9832	broad.mit.edu	37	5	147010974	147010974	+	Splice_Site	SNP	A	G	G			TCGA-BQ-7045-01A-31D-1961-08	TCGA-BQ-7045-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	413a9e10-cac7-4b6c-91cd-b58fd4499c07	0ed1c015-2f52-4269-98d4-b78e9323f29c	g.chr5:147010974A>G	uc010jgo.1	-	13	2023	c.1875_splice	c.e13+1	p.K625_splice	JAKMIP2_uc003loq.1_Splice_Site_p.K625_splice|JAKMIP2_uc011dbx.1_Splice_Site_p.K583_splice|JAKMIP2_uc003lor.1_Splice_Site_p.K604_splice|LOC153469_uc003lop.1_Intron	NM_014790	NP_055605	Q96AA8	JKIP2_HUMAN	Homo sapiens janus kinase and microtubule interacting protein 2 (JAKMIP2), mRNA.	625						Golgi apparatus				NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATATCTGCCTACCTTAACACC	0.388000														34			12		0	0	0.000978	0	0
SYNM	23336	broad.mit.edu	37	15	99670274	99670274	+	Missense_Mutation	SNP	A	T	T			TCGA-BQ-7045-01A-31D-1961-08	TCGA-BQ-7045-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	413a9e10-cac7-4b6c-91cd-b58fd4499c07	0ed1c015-2f52-4269-98d4-b78e9323f29c	g.chr15:99670274A>T	uc002bup.3	+	4	1826	c.1706A>T	c.(1705-1707)aAg>aTg	p.K569M	SYNM_uc002buo.3_Missense_Mutation_p.K569M|SYNM_uc002buq.3_Intron	NM_145728	NP_663780	O15061	SYNEM_HUMAN	Homo sapiens synemin, intermediate filament protein (SYNM), transcript variant A, mRNA.	570	Tail.				intermediate filament cytoskeleton organization	adherens junction|costamere|intermediate filament|neurofilament cytoskeleton	intermediate filament binding|structural constituent of cytoskeleton|structural constituent of muscle|vinculin binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(6)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	29						CCGAAGGAGAAGAGCGTGCGA	0.502000														36			11		0	0	0.000978	0	0
SALL4	57167	broad.mit.edu	37	20	50405586	50405586	+	Silent	SNP	G	A	A			TCGA-BQ-7045-01A-31D-1961-08	TCGA-BQ-7045-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	413a9e10-cac7-4b6c-91cd-b58fd4499c07	0ed1c015-2f52-4269-98d4-b78e9323f29c	g.chr20:50405586G>A	uc002xwh.4	-	2	2657	c.2556C>T	c.(2554-2556)tcC>tcT	p.S852S	SALL4_uc010gii.3_Silent_p.S415S|SALL4_uc002xwi.4_Silent_p.S75S	NM_020436	NP_065169	Q9UJQ4	SALL4_HUMAN	Homo sapiens sal-like 4 (Drosophila) (SALL4), mRNA.	852					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TCATCCCTGGGGACAATGTCG	0.577000														37			18		0	0	0.006122	0	0
LRIG3	121227	broad.mit.edu	37	12	59283874	59283874	+	Missense_Mutation	SNP	T	A	A			TCGA-BQ-7045-01A-31D-1961-08	TCGA-BQ-7045-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	413a9e10-cac7-4b6c-91cd-b58fd4499c07	0ed1c015-2f52-4269-98d4-b78e9323f29c	g.chr12:59283874T>A	uc001sqr.3	-	4	809	c.563A>T	c.(562-564)gAc>gTc	p.D188V	LRIG3_uc009zqh.3_Missense_Mutation_p.D128V|LRIG3_uc010ssh.2_Non-coding_Transcript	NM_153377	NP_700356	Q6UXM1	LRIG3_HUMAN	Homo sapiens leucine-rich repeats and immunoglobulin-like domains 3 (LRIG3), transcript variant 2, mRNA.	188						integral to membrane			LRIG3/ROS1(2)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48			GBM - Glioblastoma multiforme(1;1.17e-18)			GGCCAAATTGTCAAAATACCC	0.413000			T	ROS1	NSCLC									141			69		0	0	0.003610	0	0
ZNF598	90850	broad.mit.edu	37	16	2052644	2052644	+	Silent	SNP	C	T	T			TCGA-BQ-7045-01A-31D-1961-08	TCGA-BQ-7045-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	413a9e10-cac7-4b6c-91cd-b58fd4499c07	0ed1c015-2f52-4269-98d4-b78e9323f29c	g.chr16:2052644C>T	uc002cof.1	-	5	570	c.555G>A	c.(553-555)ggG>ggA	p.G185G	TCRBV20S1_uc021tak.1_Intron|ZNF598_uc002coe.1_5'Flank	NM_178167	NP_835461	Q86UK7	ZN598_HUMAN	Homo sapiens zinc finger protein 598 (ZNF598), mRNA.	185						intracellular	zinc ion binding	p.R184H(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|skin(1)|urinary_tract(1)	16						AGAGCGGGTGCCCACGGTGCG	0.602000														36			9		0	0	0.006214	0	0
TPI1	7167	broad.mit.edu	37	12	6976722	6976722	+	Missense_Mutation	SNP	T	C	C			TCGA-BQ-7045-01A-31D-1961-08	TCGA-BQ-7045-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	413a9e10-cac7-4b6c-91cd-b58fd4499c07	0ed1c015-2f52-4269-98d4-b78e9323f29c	g.chr12:6976722T>C	uc001qrk.3	+	0	139	c.103T>C	c.(103-105)Tcc>Ccc	p.S35P	TPI1_uc010sfo.2_5'Flank	NM_000365	NP_000356	P60174	TPIS_HUMAN	Homo sapiens triosephosphate isomerase 1 (TPI1), transcript variant 1, mRNA.	0					fatty acid biosynthetic process|gluconeogenesis|glycolysis|pentose-phosphate shunt	cytosol	triose-phosphate isomerase activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(11)|prostate(1)|skin(2)	19						GCGCCTCGGCTCCAGCGCCAT	0.647000														17			13		0	0	0.003163	0	0
EVPL	2125	broad.mit.edu	37	17	74004559	74004559	+	Missense_Mutation	SNP	C	T	T			TCGA-BQ-7045-01A-31D-1961-08	TCGA-BQ-7045-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	413a9e10-cac7-4b6c-91cd-b58fd4499c07	0ed1c015-2f52-4269-98d4-b78e9323f29c	g.chr17:74004559C>T	uc010wss.1	-	21	5021	c.4793G>A	c.(4792-4794)cGg>cAg	p.R1598Q	EVPL_uc002jqi.2_Missense_Mutation_p.R1576Q|EVPL_uc010wst.1_Missense_Mutation_p.R1046Q	NM_001988	NP_001979	Q92817	EVPL_HUMAN	Homo sapiens envoplakin (EVPL), mRNA.	1576	Central fibrous rod domain.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						GGACTCCTCCCGGGACCAGGT	0.731000														19			8		0	0	0.004482	0	0
CLUAP1	23059	broad.mit.edu	37	16	3554721	3554721	+	Splice_Site	SNP	T	C	C			TCGA-BQ-7045-01A-31D-1961-08	TCGA-BQ-7045-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	413a9e10-cac7-4b6c-91cd-b58fd4499c07	0ed1c015-2f52-4269-98d4-b78e9323f29c	g.chr16:3554721T>C	uc002cvk.1	+	2	128	c.23_splice	c.e2-1	p.N8_splice	CLUAP1_uc002cvj.1_Splice_Site_p.N8_splice	NM_015041	NP_079069	Q96AJ1	CLUA1_HUMAN	Homo sapiens clusterin associated protein 1 (CLUAP1), transcript variant 1, mRNA.	8						nucleus	protein binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(1)|ovary(1)|pancreas(1)|urinary_tract(2)	16						CTTGGACAGATTTCACAGAGA	0.383000														71			19		0	0	0.007413	0	0
EIF4G1	1981	broad.mit.edu	37	3	184041746	184041746	+	Missense_Mutation	SNP	T	C	C			TCGA-BQ-7045-01A-31D-1961-08	TCGA-BQ-7045-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	413a9e10-cac7-4b6c-91cd-b58fd4499c07	0ed1c015-2f52-4269-98d4-b78e9323f29c	g.chr3:184041746T>C	uc003fnp.3	+	15	2724	c.2453T>C	c.(2452-2454)aTg>aCg	p.M818T	EIF4G1_uc003fno.2_Missense_Mutation_p.M759T|EIF4G1_uc010hxw.2_Missense_Mutation_p.M654T|EIF4G1_uc010hxx.3_Missense_Mutation_p.M825T|EIF4G1_uc003fnt.3_Missense_Mutation_p.M529T|EIF4G1_uc010hxy.3_Missense_Mutation_p.M825T|EIF4G1_uc003fnq.3_Missense_Mutation_p.M731T|EIF4G1_uc003fnr.3_Missense_Mutation_p.M654T|EIF4G1_uc003fns.3_Missense_Mutation_p.M778T|EIF4G1_uc003fnv.4_Missense_Mutation_p.M819T|EIF4G1_uc003fnw.3_Missense_Mutation_p.M825T|EIF4G1_uc003fnx.3_Missense_Mutation_p.M623T|SNORD66_uc003fnz.3_5'Flank	NM_198241	NP_937885	Q04637	IF4G1_HUMAN	Homo sapiens eukaryotic translation initiation factor 4 gamma, 1 (EIF4G1), transcript variant 2, mRNA.	818	eIF3/EIF4A-binding.				insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TATGCCAACATGTGCCGCTGC	0.517000														77			28		0	0	0.006320	0	0
USP19	10869	broad.mit.edu	37	3	49148708	49148708	+	Missense_Mutation	SNP	T	A	A			TCGA-BQ-7045-01A-31D-1961-08	TCGA-BQ-7045-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	413a9e10-cac7-4b6c-91cd-b58fd4499c07	0ed1c015-2f52-4269-98d4-b78e9323f29c	g.chr3:49148708T>A	uc003cwd.2	-	20	3318	c.2999A>T	c.(2998-3000)gAg>gTg	p.E1000V	USP19_uc003cwa.3_Missense_Mutation_p.E808V|USP19_uc003cwb.3_Intron|USP19_uc003cvz.4_Missense_Mutation_p.E1103V|USP19_uc011bcg.2_Missense_Mutation_p.E1091V|USP19_uc003cwc.2_Missense_Mutation_p.E758V|USP19_uc011bch.2_Missense_Mutation_p.E1101V	NM_006677	NP_006668	O94966	UBP19_HUMAN	Homo sapiens ubiquitin specific peptidase 19 (USP19), transcript variant 4, mRNA.	1000					ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy	endoplasmic reticulum membrane|integral to membrane	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		TAGCCGCTGCTCTCGGTTGGA	0.547000														49			46		0	0	0.003610	0	0
MLLT4	4301	broad.mit.edu	37	6	168276027	168276027	+	Silent	SNP	A	C	C			TCGA-BQ-7045-01A-31D-1961-08	TCGA-BQ-7045-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	413a9e10-cac7-4b6c-91cd-b58fd4499c07	0ed1c015-2f52-4269-98d4-b78e9323f29c	g.chr6:168276027A>C	uc021zik.1	+	4	787	c.468A>C	c.(466-468)cgA>cgC	p.R156R	MLLT4_uc003qwb.1_Silent_p.R196R|MLLT4_uc003qwc.2_Silent_p.R197R|MLLT4_uc021zij.1_Silent_p.R196R	NM_001040000	NP_001035089	P55196	AFAD_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (MLLT4), transcript variant 2, mRNA.	197					adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		AAAATTCTCGACTGGCTGCTG	0.368000			T	MLL	AL									162			77		0	0	0.003610	0	0
ADAM21P1	145241	broad.mit.edu	37	14	70713349	70713349	+	Silent	SNP	T	C	C			TCGA-BQ-7045-01A-31D-1961-08	TCGA-BQ-7045-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	413a9e10-cac7-4b6c-91cd-b58fd4499c07	0ed1c015-2f52-4269-98d4-b78e9323f29c	g.chr14:70713349T>C	uc010ttg.2	-	0	1170	c.519A>G	c.(517-519)ttA>ttG	p.L173L						Homo sapiens ADAM metallopeptidase domain 21 pseudogene 1 (ADAM21P1), non-coding RNA.																		ACGTATGACCTAACTCATGGG	0.423000														210			50		0	0	0.003610	0	0
KIAA1919	91749	broad.mit.edu	37	6	111587895	111587895	+	Missense_Mutation	SNP	A	T	T			TCGA-BQ-7045-01A-31D-1961-08	TCGA-BQ-7045-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	413a9e10-cac7-4b6c-91cd-b58fd4499c07	0ed1c015-2f52-4269-98d4-b78e9323f29c	g.chr6:111587895A>T	uc003puv.4	+	3	1552	c.1130A>T	c.(1129-1131)cAa>cTa	p.Q377L		NM_153369	NP_699200	Q5TF39	NAGT1_HUMAN	Homo sapiens KIAA1919 (KIAA1919), mRNA.	377					carbohydrate transport|sodium ion transport	apical plasma membrane|integral to membrane	symporter activity			large_intestine(3)|lung(2)|ovary(4)|skin(3)	12		all_cancers(87;2.35e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.0209)		OV - Ovarian serous cystadenocarcinoma(136;0.055)|all cancers(137;0.0871)|Epithelial(106;0.0884)		GGAATTCTTCAAGGAAAATAC	0.403000														128			56		0	0	0.003610	0	0
KCNV1	27012	broad.mit.edu	37	8	110986410	110986410	+	Missense_Mutation	SNP	C	A	A			TCGA-BQ-7045-01A-31D-1961-08	TCGA-BQ-7045-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	413a9e10-cac7-4b6c-91cd-b58fd4499c07	0ed1c015-2f52-4269-98d4-b78e9323f29c	g.chr8:110986410C>A	uc003ynr.4	-	0	1012	c.208G>T	c.(208-210)Gtg>Ttg	p.V70L	KCNV1_uc010mcw.3_Missense_Mutation_p.V70L	NM_014379	NP_055194	Q6PIU1	KCNV1_HUMAN	Homo sapiens potassium channel, subfamily V, member 1 (KCNV1), mRNA.	70						voltage-gated potassium channel complex	ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)			GCCACCACCACGGCCAGCTTG	0.692000														6			8		0.00307968	0.00715572	0.003080	1	0
ATP2C1	27032	broad.mit.edu	37	3	130686204	130686204	+	Missense_Mutation	SNP	A	G	G			TCGA-BQ-7045-01A-31D-1961-08	TCGA-BQ-7045-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	413a9e10-cac7-4b6c-91cd-b58fd4499c07	0ed1c015-2f52-4269-98d4-b78e9323f29c	g.chr3:130686204A>G	uc011bli.2	+	14	1647	c.1351A>G	c.(1351-1353)Aga>Gga	p.R451G	ATP2C1_uc011blg.2_Missense_Mutation_p.R451G|ATP2C1_uc011blh.2_Missense_Mutation_p.R412G|ATP2C1_uc003enk.3_Missense_Mutation_p.R401G|ATP2C1_uc003enl.3_Missense_Mutation_p.R417G|ATP2C1_uc003enm.3_Missense_Mutation_p.R417G|ATP2C1_uc003enn.3_Missense_Mutation_p.R401G|ATP2C1_uc003eno.3_Missense_Mutation_p.R417G|ATP2C1_uc003enp.3_Missense_Mutation_p.R417G|ATP2C1_uc003ent.3_Missense_Mutation_p.R417G|ATP2C1_uc003ens.3_Missense_Mutation_p.R417G|ATP2C1_uc003enu.3_Missense_Mutation_p.R95G	NM_001199180	NP_001186109	P98194	AT2C1_HUMAN	Homo sapiens ATPase, Ca++ transporting, type 2C, member 1 (ATP2C1), transcript variant 6, mRNA.	417					ATP biosynthetic process|Golgi calcium ion homeostasis|Golgi calcium ion transport|actin cytoskeleton reorganization|calcium-dependent cell-cell adhesion|cellular calcium ion homeostasis|cellular manganese ion homeostasis|epidermis development|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi apparatus|Golgi membrane|integral to membrane|trans-Golgi network	ATP binding|calcium ion binding|calcium-transporting ATPase activity|manganese ion binding|manganese-transporting ATPase activity|metal ion binding|signal transducer activity			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|prostate(2)|skin(2)|urinary_tract(1)	39					Arsenic trioxide(DB01169)|Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Miconazole(DB01110)|Sevoflurane(DB01236)	TGCTGTAATTAGAAACAATAC	0.383000									Hailey-Hailey disease					75			29		0	0	0.001786	0	0
ANKRD12	23253	broad.mit.edu	37	18	9257291	9257291	+	Silent	SNP	T	C	C			TCGA-BQ-7045-01A-31D-1961-08	TCGA-BQ-7045-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	413a9e10-cac7-4b6c-91cd-b58fd4499c07	0ed1c015-2f52-4269-98d4-b78e9323f29c	g.chr18:9257291T>C	uc002knv.3	+	8	4290	c.4026T>C	c.(4024-4026)acT>acC	p.T1342T	ANKRD12_uc002knw.3_Silent_p.T1319T|ANKRD12_uc002knx.3_Silent_p.T1319T|ANKRD12_uc010dkx.1_Silent_p.T1049T	NM_015208	NP_056023	Q6UB98	ANR12_HUMAN	Homo sapiens ankyrin repeat domain 12 (ANKRD12), transcript variant 1, mRNA.	1342						nucleus				NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						CAGGAGATACTAGTCCTTCTC	0.398000														66			37		0	0	0.005524	0	0
JAK3	3718	broad.mit.edu	37	19	17946018	17946018	+	Missense_Mutation	SNP	T	C	C			TCGA-BQ-7045-01A-31D-1961-08	TCGA-BQ-7045-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	413a9e10-cac7-4b6c-91cd-b58fd4499c07	0ed1c015-2f52-4269-98d4-b78e9323f29c	g.chr19:17946018T>C	uc002nhn.4	-	14	2021	c.1921A>G	c.(1921-1923)Aaa>Gaa	p.K641E	JAK3_uc010ebh.3_Intron|JAK3_uc002nho.2_Missense_Mutation_p.K641E	NM_000215	NP_000206	P52333	JAK3_HUMAN	Homo sapiens Janus kinase 3 (JAK3), mRNA.	641	Protein kinase 1.				B cell differentiation|T cell homeostasis|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of FasL biosynthetic process|negative regulation of T-helper 1 cell differentiation|negative regulation of dendritic cell cytokine production|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9	cytoskeleton|cytosol|endomembrane system|membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147						GGCAGGCCTTTGTCCTCCTAA	0.577000		2	Mis		"""acute megakaryocytic leukemia, ETP ALL"""									34			11		0	0	0.000978	0	0
UBAC1	10422	broad.mit.edu	37	9	138839743	138839743	+	Silent	SNP	T	C	C			TCGA-BQ-7045-01A-31D-1961-08	TCGA-BQ-7045-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	413a9e10-cac7-4b6c-91cd-b58fd4499c07	0ed1c015-2f52-4269-98d4-b78e9323f29c	g.chr9:138839743T>C	uc004cgt.3	-	3	560	c.342A>G	c.(340-342)caA>caG	p.Q114Q		NM_016172	NP_057256	Q9BSL1	UBAC1_HUMAN	Homo sapiens UBA domain containing 1 (UBAC1), mRNA.	114						Golgi apparatus|plasma membrane	protein binding			NS(1)|biliary_tract(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(2)|lung(6)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	25		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.1e-06)|Epithelial(140;7.79e-06)		CTTTCTGGTCTTGTTTTTTCT	0.517000														19			14		0	0	0.001855	0	0
RPL10	6134	broad.mit.edu	37	X	153627911	153627911	+	Missense_Mutation	SNP	G	A	A			TCGA-BQ-7045-01A-31D-1961-08	TCGA-BQ-7045-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	413a9e10-cac7-4b6c-91cd-b58fd4499c07	0ed1c015-2f52-4269-98d4-b78e9323f29c	g.chrX:153627911G>A	uc004fkm.2	+	3	354	c.166G>A	c.(166-168)Gaa>Aaa	p.E56K	AK307233_uc010nuv.2_5'Flank|RPL10_uc004fko.2_Missense_Mutation_p.E56K|RPL10_uc004fkn.1_Missense_Mutation_p.E56K|RPL10_uc004fkq.1_Non-coding_Transcript|RPL10_uc004fkr.1_5'Flank|SNORA70_uc010nux.1_5'Flank|RPL10_uc022cif.1_5'Flank	NM_006013	NP_006004	P27635	RL10_HUMAN	Homo sapiens ribosomal protein L10 (RPL10), transcript variant 1, mRNA.	56					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|endoplasmic reticulum	structural constituent of ribosome			large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GGTGTCAGATGAATATGAGCA	0.507000														30			46		0	0	0.003214	0	0
KCNH6	81033	broad.mit.edu	37	17	61623123	61623123	+	Silent	SNP	C	T	T			TCGA-BQ-7045-01A-31D-1961-08	TCGA-BQ-7045-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	413a9e10-cac7-4b6c-91cd-b58fd4499c07	0ed1c015-2f52-4269-98d4-b78e9323f29c	g.chr17:61623123C>T	uc002jay.3	+	13	2925	c.2845C>T	c.(2845-2847)Cta>Tta	p.L949L	KCNH6_uc010wpl.2_Silent_p.L790L|KCNH6_uc010wpm.2_Silent_p.L913L|KCNH6_uc002jaz.1_Silent_p.L860L	NM_030779	NP_110406	Q9H252	KCNH6_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 6 (KCNH6), transcript variant 1, mRNA.	949					regulation of transcription, DNA-dependent|signal transduction			p.L949V(2)|p.L949I(2)|p.P948L(1)		breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Ibutilide(DB00308)	AGCCTCACCTCTACATCCCCT	0.587000														104			30		0	0	0.007291	0	0
ALPK2	115701	broad.mit.edu	37	18	56196435	56196435	+	Missense_Mutation	SNP	A	G	G			TCGA-BQ-7045-01A-31D-1961-08	TCGA-BQ-7045-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	413a9e10-cac7-4b6c-91cd-b58fd4499c07	0ed1c015-2f52-4269-98d4-b78e9323f29c	g.chr18:56196435A>G	uc002lhj.4	-	5	5603	c.5389T>C	c.(5389-5391)Ttc>Ctc	p.F1797L	ALPK2_uc002lhk.1_Missense_Mutation_p.F1128L	NM_052947	NP_443179	Q86TB3	ALPK2_HUMAN	Homo sapiens alpha-kinase 2 (ALPK2), mRNA.	1797	Ig-like 2.						ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						TGTTCAGGGAACATCTCAGCT	0.358000														62			25		0	0	0.005443	0	0
LOC650368	650368	broad.mit.edu	37	11	3427845	3427845	+	RNA	SNP	C	T	T			TCGA-BQ-7045-01A-31D-1961-08	TCGA-BQ-7045-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	413a9e10-cac7-4b6c-91cd-b58fd4499c07	0ed1c015-2f52-4269-98d4-b78e9323f29c	g.chr11:3427845C>T	uc010qxs.1	+	8		c.838C>T			LOC650368_uc001lxy.2_Non-coding_Transcript					Homo sapiens asparagine-linked glycosylation 1-like pseudogene (LOC650368), non-coding RNA.																		CTTCAAGTGGCAGGAGCAGAA	0.587000														51			5		0	0	0.001984	0	0
DDX11	1663	broad.mit.edu	37	12	31242861	31242861	+	Silent	SNP	A	C	C			TCGA-BQ-7045-01A-31D-1961-08	TCGA-BQ-7045-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	413a9e10-cac7-4b6c-91cd-b58fd4499c07	0ed1c015-2f52-4269-98d4-b78e9323f29c	g.chr12:31242861A>C	uc001rjt.1	+	8	1173	c.922A>C	c.(922-924)Agg>Cgg	p.R308R	DDX11_uc010sjw.1_3'UTR|DDX11_uc010sjx.1_Non-coding_Transcript|DDX11_uc001rjr.1_Silent_p.R308R|DDX11_uc001rjs.1_Silent_p.R308R|DDX11_uc001rju.1_5'UTR|DDX11_uc001rjv.1_Silent_p.R308R|DDX11_uc001rjw.1_Silent_p.R282R|DDX11_uc001rjx.1_5'UTR|DDX11_uc009zjn.1_Non-coding_Transcript	NM_152438	NP_689651	Q96FC9	DDX11_HUMAN	Homo sapiens DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 (DDX11), transcript variant 3, mRNA.	308	Helicase ATP-binding.				G2/M transition of mitotic cell cycle|S phase of mitotic cell cycle|interspecies interaction between organisms|mitotic sister chromatid segregation|positive regulation of cell proliferation|sister chromatid cohesion	midbody|nuclear chromatin|nucleolus|spindle pole	ATP binding|ATP-dependent DNA helicase activity|DNA binding|RNA binding|protein binding	p.R308R(3)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	57	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					AAAGAGGAGGAGGCAGGAGAA	0.587000										Multiple Myeloma(12;0.14)				12			3		0	0	0.000248	0	0
PTH1R	5745	broad.mit.edu	37	3	46939563	46939563	+	Splice_Site	SNP	G	T	T			TCGA-BQ-7045-01A-31D-1961-08	TCGA-BQ-7045-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	413a9e10-cac7-4b6c-91cd-b58fd4499c07	0ed1c015-2f52-4269-98d4-b78e9323f29c	g.chr3:46939563G>T	uc003cqm.3	+	7	628	c.425_splice	c.e7-1	p.G142_splice	PTH1R_uc021wxg.1_Splice_Site_p.G142_splice	NM_000316	NP_001171673	Q03431	PTH1R_HUMAN	Homo sapiens parathyroid hormone 1 receptor (PTH1R), transcript variant 1, mRNA.	142						cytoplasm|integral to plasma membrane|nucleus	parathyroid hormone receptor activity|peptide hormone binding|protein self-association			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(2)|stomach(1)|urinary_tract(2)	19						TGGACCTGCAGGCCATGCCTA	0.617000														125			33		1.56442e-22	4.26169e-22	0.002445	1	0
TMEM156	80008	broad.mit.edu	37	4	38990526	38990526	+	Silent	SNP	G	T	T			TCGA-BQ-7045-01A-31D-1961-08	TCGA-BQ-7045-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	413a9e10-cac7-4b6c-91cd-b58fd4499c07	0ed1c015-2f52-4269-98d4-b78e9323f29c	g.chr4:38990526G>T	uc003gto.3	-	3	792	c.684C>A	c.(682-684)atC>atA	p.I228I	TMEM156_uc010ifj.3_Silent_p.I228I	NM_024943	NP_079219	Q8N614	TM156_HUMAN	Homo sapiens transmembrane protein 156 (TMEM156), mRNA.	228						integral to membrane				endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|stomach(1)	10						TAGTGAGGATGATCAAAAATA	0.353000														82			25		1.33986e-20	3.56795e-20	0.004656	1	0
OR4C15	81309	broad.mit.edu	37	11	55322355	55322355	+	Missense_Mutation	SNP	G	C	C			TCGA-BQ-7045-01A-31D-1961-08	TCGA-BQ-7045-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	413a9e10-cac7-4b6c-91cd-b58fd4499c07	0ed1c015-2f52-4269-98d4-b78e9323f29c	g.chr11:55322355G>C	uc010rig.2	+	0	573	c.573G>C	c.(571-573)agG>agC	p.R191S		NM_001001920	NP_001001920	Q8NGM1	OR4CF_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 15 (OR4C15), mRNA.	137					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						TCATGAACAGGAGGCTCTGTG	0.498000										HNSCC(20;0.049)				93			39		0	0	0.002222	0	0
AGFG2	3268	broad.mit.edu	37	7	100160553	100160553	+	Silent	SNP	C	T	T			TCGA-BQ-7045-01A-31D-1961-08	TCGA-BQ-7045-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	413a9e10-cac7-4b6c-91cd-b58fd4499c07	0ed1c015-2f52-4269-98d4-b78e9323f29c	g.chr7:100160553C>T	uc003uvf.3	+	8	1291	c.1155C>T	c.(1153-1155)ccC>ccT	p.P385P		NM_006076	NP_006067	O95081	AGFG2_HUMAN	Homo sapiens ArfGAP with FG repeats 2 (AGFG2), mRNA.	385	Pro-rich.				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						CGTTCCAGCCCAATGGCTTGG	0.602000														25			7		0	0	0.001984	0	0
TIAF1	9220	broad.mit.edu	37	17	27400954	27400954	+	Missense_Mutation	SNP	C	G	G			TCGA-BQ-7045-01A-31D-1961-08	TCGA-BQ-7045-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	413a9e10-cac7-4b6c-91cd-b58fd4499c07	0ed1c015-2f52-4269-98d4-b78e9323f29c	g.chr17:27400954C>G	uc002hdv.1	-	0	1674	c.264G>C	c.(262-264)agG>agC	p.R88S	MYO18A_uc010wbc.1_3'UTR|MYO18A_uc002hds.2_3'UTR|MYO18A_uc010csa.1_3'UTR|MYO18A_uc002hdt.1_3'UTR|MYO18A_uc002hdu.1_3'UTR	NM_004740	NP_004731	O95411	TIAF1_HUMAN	Homo sapiens TGFB1-induced anti-apoptotic factor 1 (TIAF1), mRNA.	88					I-kappaB kinase/NF-kappaB cascade|anti-apoptosis|apoptosis	nucleus				kidney(1)|lung(1)|urinary_tract(1)	3	Lung NSC(42;0.015)		Epithelial(11;1.19e-05)|all cancers(11;6.57e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000153)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			TTGGATCAGCCCTGAACTGCT	0.532000														111			115		0	0	0.003610	0	0
ELAC1	55520	broad.mit.edu	37	18	48513160	48513160	+	Missense_Mutation	SNP	G	C	C			TCGA-BQ-7045-01A-31D-1961-08	TCGA-BQ-7045-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	413a9e10-cac7-4b6c-91cd-b58fd4499c07	0ed1c015-2f52-4269-98d4-b78e9323f29c	g.chr18:48513160G>C	uc002lez.3	+	3	903	c.797G>C	c.(796-798)tGc>tCc	p.C266S	SMAD4_uc010xdo.1_Intron	NM_018696	NP_061166	Q9H777	RNZ1_HUMAN	Homo sapiens elaC homolog 1 (E. coli) (ELAC1), mRNA.	266					tRNA 3'-trailer cleavage	nucleus	endoribonuclease activity, producing 5'-phosphomonoesters|metal ion binding			kidney(1)|large_intestine(4)|prostate(1)	6		Colorectal(6;0.0269)|all_epithelial(6;0.0729)		Colorectal(21;0.000943)|COAD - Colon adenocarcinoma(17;0.0398)|READ - Rectum adenocarcinoma(32;0.0894)|STAD - Stomach adenocarcinoma(97;0.18)		GTAAAACTGTGCTTTGAAGCA	0.478000														28			12		0	0	0.001368	0	0
KCNB1	3745	broad.mit.edu	37	20	47989844	47989844	+	Silent	SNP	A	C	C			TCGA-BQ-7045-01A-31D-1961-08	TCGA-BQ-7045-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	413a9e10-cac7-4b6c-91cd-b58fd4499c07	0ed1c015-2f52-4269-98d4-b78e9323f29c	g.chr20:47989844A>C	uc002xur.1	-	1	2419	c.2253T>G	c.(2251-2253)ggT>ggG	p.G751G	KCNB1_uc002xus.1_Silent_p.G751G	NM_004975	NP_004966	Q14721	KCNB1_HUMAN	Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 1 (KCNB1), mRNA.	751					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity	p.G751G(4)		central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			ACTGGTGGACACCCGCCTCAA	0.572000														153			18		0	0	0.003214	0	0
GDF5	8200	broad.mit.edu	37	20	34025518	34025518	+	Missense_Mutation	SNP	C	T	T			TCGA-BQ-7045-01A-31D-1961-08	TCGA-BQ-7045-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	413a9e10-cac7-4b6c-91cd-b58fd4499c07	0ed1c015-2f52-4269-98d4-b78e9323f29c	g.chr20:34025518C>T	uc010gfc.1	-	0	432	c.191G>A	c.(190-192)aGc>aAc	p.S64N	GDF5_uc002xck.1_Missense_Mutation_p.S64N	NM_000557	NP_000548	P43026	GDF5_HUMAN	Homo sapiens growth differentiation factor 5 (GDF5), mRNA.	64					cartilage development|cell-cell signaling|growth|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(9)|skin(3)	26	Lung NSC(9;0.00642)|all_lung(11;0.0094)		BRCA - Breast invasive adenocarcinoma(18;0.00663)			CCCACCATAGCTGTGACCCCC	0.647000														15			7		0	0	0.001984	0	0
CLEC14A	161198	broad.mit.edu	37	14	38724316	38724316	+	Silent	SNP	C	T	T			TCGA-BQ-7045-01A-31D-1961-08	TCGA-BQ-7045-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	413a9e10-cac7-4b6c-91cd-b58fd4499c07	0ed1c015-2f52-4269-98d4-b78e9323f29c	g.chr14:38724316C>T	uc001wum.1	-	0	1259	c.912G>A	c.(910-912)agG>agA	p.R304R		NM_175060	NP_778230	Q86T13	CLC14_HUMAN	Homo sapiens C-type lectin domain family 14, member A (CLEC14A), mRNA.	304						integral to membrane	sugar binding	p.R304G(1)		breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)		CCGGCGGGCGCCTGGTGGGCA	0.657000														80			41		0	0	0.007835	0	0
COL6A3	1293	broad.mit.edu	37	2	238283616	238283616	+	Missense_Mutation	SNP	C	T	T	rs78427077	by1000genomes	TCGA-BQ-7045-01A-31D-1961-08	TCGA-BQ-7045-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	413a9e10-cac7-4b6c-91cd-b58fd4499c07	0ed1c015-2f52-4269-98d4-b78e9323f29c	g.chr2:238283616C>T	uc002vwl.2	-	7	3403	c.3118G>A	c.(3118-3120)Gtc>Atc	p.V1040I	COL6A3_uc002vwo.2_Missense_Mutation_p.V834I|COL6A3_uc010znj.1_Missense_Mutation_p.V433I|COL6A3_uc002vwq.3_Missense_Mutation_p.V834I|COL6A3_uc002vwr.3_Missense_Mutation_p.V633I	NM_004369	NP_004360	P12111	CO6A3_HUMAN	Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA.	1040	Nonhelical region.|VWFA 6.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CCGCTCCTGACGCCCTCAGAG	0.567000														48			20		0	0	0.008871	0	0
SFI1	9814	broad.mit.edu	37	22	31924806	31924806	+	Missense_Mutation	SNP	C	T	T			TCGA-BQ-7045-01A-31D-1961-08	TCGA-BQ-7045-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	413a9e10-cac7-4b6c-91cd-b58fd4499c07	0ed1c015-2f52-4269-98d4-b78e9323f29c	g.chr22:31924806C>T	uc003ale.3	+	2	616	c.223C>T	c.(223-225)Cat>Tat	p.H75Y	SFI1_uc003ald.1_Missense_Mutation_p.H75Y|SFI1_uc003alf.3_Missense_Mutation_p.H75Y|SFI1_uc003alg.3_Intron|SFI1_uc011alp.2_Intron|SFI1_uc011alq.2_Missense_Mutation_p.H75Y|SFI1_uc003alh.3_Intron	NM_001007467	NP_001007468	A8K8P3	SFI1_HUMAN	Homo sapiens Sfi1 homolog, spindle assembly associated (yeast) (SFI1), transcript variant 1, mRNA.	75					G2/M transition of mitotic cell cycle	centriole|cytosol				NS(2)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)	38						TCGTGGCACACATACTTGTAC	0.483000														73			34		0	0	0.004289	0	0
THBS2	7058	broad.mit.edu	37	6	169622311	169622311	+	Missense_Mutation	SNP	G	T	T			TCGA-BQ-7045-01A-31D-1961-08	TCGA-BQ-7045-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	413a9e10-cac7-4b6c-91cd-b58fd4499c07	0ed1c015-2f52-4269-98d4-b78e9323f29c	g.chr6:169622311G>T	uc003qwt.3	-	19	3502	c.3254C>A	c.(3253-3255)aCg>aAg	p.T1085K		NM_003247	NP_003238	P35442	TSP2_HUMAN	Homo sapiens thrombospondin 2 (THBS2), mRNA.	1085	TSP C-terminal.				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity	p.T1085M(2)|p.T1085T(1)		NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		CGTGTTCCCCGTGTGCCACAG	0.662000														67			18		1.10923e-09	2.71018e-09	0.002780	1	0
GPR123	84435	broad.mit.edu	37	10	134896356	134896356	+	Silent	SNP	C	T	T			TCGA-BQ-7045-01A-31D-1961-08	TCGA-BQ-7045-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	413a9e10-cac7-4b6c-91cd-b58fd4499c07	0ed1c015-2f52-4269-98d4-b78e9323f29c	g.chr10:134896356C>T	uc001llw.3	+	6	1368	c.1368C>T	c.(1366-1368)ccC>ccT	p.P456P				Q86SQ6	GP123_HUMAN	Homo sapiens G protein-coupled receptor 123 (GPR123), mRNA.	209						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3)	14		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)		GACGCAGGCCCTGTGCGGTGA	0.667000														10			4		0	0	0.000602	0	0
TMEM52	339456	broad.mit.edu	37	1	1850628	1850636	+	In_Frame_Del	DEL	AGCGGCAGG	-	-			TCGA-BQ-7045-01A-31D-1961-08	TCGA-BQ-7045-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	413a9e10-cac7-4b6c-91cd-b58fd4499c07	0ed1c015-2f52-4269-98d4-b78e9323f29c	g.chr1:1850628_1850636delAGCGGCAGG	uc001aij.2	-	0	105_113	c.69_77delCCTGCCGCT	c.(67-78)ctcctgccgctg>ctg	p.23_26LLPL>L	TMEM52_uc001aii.2_5'Flank	NM_178545	NP_848640	Q8NDY8	TMM52_HUMAN	Homo sapiens transmembrane protein 52 (TMEM52), mRNA.	23						integral to membrane				NS(1)|prostate(1)|stomach(1)	3	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.82e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.75e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		CACCTgcggcagcggcaggagcggcagga	0.766													---	5	---	---	3	---					
MRPL9	65005	broad.mit.edu	37	1	151735603	151735616	+	Frame_Shift_Del	DEL	CGCTCCACGATGAC	-	-			TCGA-BQ-7045-01A-31D-1961-08	TCGA-BQ-7045-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	413a9e10-cac7-4b6c-91cd-b58fd4499c07	0ed1c015-2f52-4269-98d4-b78e9323f29c	g.chr1:151735603_151735616delCGCTCCACGATGAC	uc001eyv.3	-	1	245_258	c.160_173delGTCATCGTGGAGCG	c.(160-174)gtcatcgtggagcgcfs	p.V54fs	MRPL9_uc009wmz.3_Non-coding_Transcript|MRPL9_uc010pdk.1_Frame_Shift_Del_p.V54fs|MRPL9_uc009wna.1_Frame_Shift_Del_p.V54fs|OAZ3_uc010pdl.2_Start_Codon_Del	NM_031420	NP_113608	Q9BYD2	RM09_HUMAN	Homo sapiens mitochondrial ribosomal protein L9 (MRPL9), nuclear gene encoding mitochondrial protein, mRNA.	54					translation	mitochondrial ribosome	structural constituent of ribosome	p.R58H(2)		endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	12	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			CTTCCACCAGCGCTCCACGATGACCGTGCCCTGG	0.668													---	41	---	---	11	---					
PROX1	5629	broad.mit.edu	37	1	214170437	214170438	+	Frame_Shift_Ins	INS	-	AT	AT			TCGA-BQ-7045-01A-31D-1961-08	TCGA-BQ-7045-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	413a9e10-cac7-4b6c-91cd-b58fd4499c07	0ed1c015-2f52-4269-98d4-b78e9323f29c	g.chr1:214170437_214170438insAT	uc001hkh.3	+	1	831_832	c.559_560insAT	c.(559-561)aatfs	p.N187fs	PROX1_uc001hkg.1_Frame_Shift_Ins_p.N187fs	NM_002763	NP_002754	Q92786	PROX1_HUMAN	Homo sapiens prospero homeobox 1 (PROX1), mRNA.	187					aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of S phase of mitotic cell cycle|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis	cytoplasm|nucleus	DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding	p.N187K(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		ATTAAGGGGCAATGAAAATGAA	0.505													---	53	---	---	21	---					
PLEKHB2	55041	broad.mit.edu	37	2	131904282	131904282	+	Frame_Shift_Del	DEL	C	-	-			TCGA-BQ-7045-01A-31D-1961-08	TCGA-BQ-7045-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	413a9e10-cac7-4b6c-91cd-b58fd4499c07	0ed1c015-2f52-4269-98d4-b78e9323f29c	g.chr2:131904282delC	uc002tsi.4	+	6	1312	c.728delC	c.(727-729)gcafs	p.A243fs	PLEKHB2_uc002tsh.2_Intron|PLEKHB2_uc002tsg.4_Frame_Shift_Del_p.A202fs|PLEKHB2_uc002tsj.4_Frame_Shift_Del_p.A201fs|PLEKHB2_uc002tsf.4_Frame_Shift_Del_p.A210fs|PLEKHB2_uc010zap.2_Frame_Shift_Del_p.H166fs|PLEKHB2_uc010zaq.2_Frame_Shift_Del_p.H158fs|PLEKHB2_uc010zao.2_Frame_Shift_Del_p.A152fs	NM_001100623	NP_001094093	Q96CS7	PKHB2_HUMAN	Homo sapiens pleckstrin homology domain containing, family B (evectins) member 2 (PLEKHB2), transcript variant 3, mRNA.	202						membrane	protein binding			large_intestine(1)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9				BRCA - Breast invasive adenocarcinoma(221;0.0828)		AGCGACCTGGCACTGGGCATG	0.507													---	229	---	---	83	---					
AZI2	64343	broad.mit.edu	37	3	28382066	28382066	+	Frame_Shift_Del	DEL	C	-	-			TCGA-BQ-7045-01A-31D-1961-08	TCGA-BQ-7045-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	413a9e10-cac7-4b6c-91cd-b58fd4499c07	0ed1c015-2f52-4269-98d4-b78e9323f29c	g.chr3:28382066delC	uc003ceb.3	-	1	575	c.43delG	c.(43-45)gaafs	p.E15fs	AZI2_uc003cec.3_5'UTR|AZI2_uc003cee.4_Frame_Shift_Del_p.E15fs|AZI2_uc011axd.1_Frame_Shift_Del_p.E15fs|AZI2_uc003ceg.2_Frame_Shift_Del_p.E15fs	NM_022461	NP_071906	Q9H6S1	AZI2_HUMAN	Homo sapiens 5-azacytidine induced 2 (AZI2), transcript variant 1, mRNA.	15						mitochondrion|plasma membrane				cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15						TGGGCTTTTTCATGATTCAGA	0.348													---	80	---	---	50	---					
CISH	1154	broad.mit.edu	37	3	50645554	50645554	+	Frame_Shift_Del	DEL	A	-	-			TCGA-BQ-7045-01A-31D-1961-08	TCGA-BQ-7045-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	413a9e10-cac7-4b6c-91cd-b58fd4499c07	0ed1c015-2f52-4269-98d4-b78e9323f29c	g.chr3:50645554delA	uc010hlq.3	-	3	599	c.312delT	c.(310-312)attfs	p.I104fs	CISH_uc003dax.3_Frame_Shift_Del_p.I87fs	NM_013324	NP_037456	Q9NSE2	CISH_HUMAN	Homo sapiens cytokine inducible SH2-containing protein (CISH), transcript variant 1, mRNA.	87	SH2.				intracellular signal transduction|negative regulation of signal transduction|regulation of cell growth	intracellular				breast(2)|lung(1)|stomach(1)|upper_aerodigestive_tract(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)		CGCTGGCCGTAATGGAACCCC	0.562													---	61	---	---	10	---					
MITF	4286	broad.mit.edu	37	3	69988260	69988261	+	Frame_Shift_Ins	INS	-	T	T			TCGA-BQ-7045-01A-31D-1961-08	TCGA-BQ-7045-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	413a9e10-cac7-4b6c-91cd-b58fd4499c07	0ed1c015-2f52-4269-98d4-b78e9323f29c	g.chr3:69988260_69988261insT	uc003dnz.3	+	3	757_758	c.594_595insT	c.(592-597)aagtttfs	p.K198fs	MITF_uc011bgb.2_Frame_Shift_Ins_p.K146fs|MITF_uc003doa.3_Frame_Shift_Ins_p.K197fs|MITF_uc003dob.3_Frame_Shift_Ins_p.K182fs|MITF_uc021xam.1_Frame_Shift_Ins_p.K35fs|MITF_uc003doe.3_Frame_Shift_Ins_p.K91fs|MITF_uc003dof.3_Frame_Shift_Ins_p.K91fs	NM_198159	NP_001171896	O75030	MITF_HUMAN	Homo sapiens microphthalmia-associated transcription factor (MITF), transcript variant 1, mRNA.	198					melanocyte differentiation|multicellular organismal development|protein complex assembly	nucleus|protein complex	DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|protein binding	p.K91N(1)		NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(6)|stomach(1)|urinary_tract(2)	30		Lung NSC(201;0.0384)|Prostate(884;0.0526)		BRCA - Breast invasive adenocarcinoma(55;3.07e-05)|Epithelial(33;0.000138)|LUSC - Lung squamous cell carcinoma(21;0.008)|Lung(16;0.0107)|KIRC - Kidney renal clear cell carcinoma(39;0.204)|Kidney(39;0.239)		GATTTTATAAGTTTGAAGAGCA	0.441			A		melanoma		"""Waardenburg syndrome type 2, Tietz syndrome"""						---	37	---	---	38	---					
RASA2	5922	broad.mit.edu	37	3	141326509	141326518	+	Splice_Site	DEL	TTATTATTTA	-	-			TCGA-BQ-7045-01A-31D-1961-08	TCGA-BQ-7045-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	413a9e10-cac7-4b6c-91cd-b58fd4499c07	0ed1c015-2f52-4269-98d4-b78e9323f29c	g.chr3:141326509_141326518delTTATTATTTA	uc010huq.1	+	21	1946	c.1946_splice	c.e21-2	p.R649_splice	RASA2_uc003etz.1_Splice_Site_p.G645_splice|RASA2_uc003eua.1_Splice_Site_p.S646_splice	NM_006506	NP_006497	Q15283	RASA2_HUMAN	Homo sapiens RAS p21 protein activator 2 (RASA2), mRNA.	645	PH.				intracellular signal transduction|negative regulation of Ras protein signal transduction	intracellular membrane-bounded organelle|intrinsic to internal side of plasma membrane|perinuclear region of cytoplasm	Ras GTPase activator activity|metal ion binding			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	34						TTTACTTTTTTTATTATTTAGGCAAAGATG	0.305													---	12	---	---	21	---					
KDR	3791	broad.mit.edu	37	4	55981041	55981042	+	Splice_Site	INS	-	T	T			TCGA-BQ-7045-01A-31D-1961-08	TCGA-BQ-7045-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	413a9e10-cac7-4b6c-91cd-b58fd4499c07	0ed1c015-2f52-4269-98d4-b78e9323f29c	g.chr4:55981041_55981042insT	uc003has.3	-	5	960	c.658_splice	c.e5+1	p.G220_splice	KDR_uc003hat.1_Splice_Site_p.G220_splice|KDR_uc011bzx.2_Splice_Site_p.G220_splice	NM_002253	NP_002244	P35968	VGFR2_HUMAN	Homo sapiens kinase insert domain receptor (a type III receptor tyrosine kinase) (KDR), mRNA.	220					angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|Hsp90 protein binding|growth factor binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	GTCCTCTTACCTACAACGACAA	0.347			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)			---	67	---	---	27	---					
KIAA1211	57482	broad.mit.edu	37	4	57182080	57182080	+	Frame_Shift_Del	DEL	T	-	-			TCGA-BQ-7045-01A-31D-1961-08	TCGA-BQ-7045-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	413a9e10-cac7-4b6c-91cd-b58fd4499c07	0ed1c015-2f52-4269-98d4-b78e9323f29c	g.chr4:57182080delT	uc003hbk.2	+	7	2803	c.2412delT	c.(2410-2412)cctfs	p.P804fs	KIAA1211_uc010iha.2_Frame_Shift_Del_p.P797fs|KIAA1211_uc011bzz.1_Frame_Shift_Del_p.P714fs|KIAA1211_uc003hbm.1_Frame_Shift_Del_p.P690fs	NM_020722	NP_065773	Q6ZU35	K1211_HUMAN	Homo sapiens KIAA1211 (KIAA1211), mRNA.	804										endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					CAAGCCTTCCTTACCCTCCGC	0.592													---	45	---	---	22	---					
GFRAL	389400	broad.mit.edu	37	6	55223709	55223709	+	Frame_Shift_Del	DEL	C	-	-			TCGA-BQ-7045-01A-31D-1961-08	TCGA-BQ-7045-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	413a9e10-cac7-4b6c-91cd-b58fd4499c07	0ed1c015-2f52-4269-98d4-b78e9323f29c	g.chr6:55223709delC	uc003pcm.1	+	5	811	c.725delC	c.(724-726)tcafs	p.S242fs		NM_207410	NP_997293	Q6UXV0	GFRAL_HUMAN	Homo sapiens GDNF family receptor alpha like (GFRAL), mRNA.	242						integral to membrane	receptor activity			NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	48	Lung NSC(77;0.0875)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			ACATTTCAGTCAAAATGCTGG	0.398													---	85	---	---	46	---					
C2CD3	26005	broad.mit.edu	37	11	73745646	73745646	+	Frame_Shift_Del	DEL	G	-	-			TCGA-BQ-7045-01A-31D-1961-08	TCGA-BQ-7045-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	413a9e10-cac7-4b6c-91cd-b58fd4499c07	0ed1c015-2f52-4269-98d4-b78e9323f29c	g.chr11:73745646delG	uc001ouu.2	-	30	6116	c.5889delC	c.(5887-5889)tacfs	p.Y1963fs	C2CD3_uc001out.3_Intron	NM_015531	NP_056346	Q4AC94	C2CD3_HUMAN	Homo sapiens C2 calcium-dependent domain containing 3 (C2CD3), mRNA.	0						centrosome				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					AGTTACTTCAGTAACTACCTA	0.368													---	30	---	---	10	---					
HAPLN3	145864	broad.mit.edu	37	15	89422488	89422488	+	Frame_Shift_Del	DEL	G	-	-			TCGA-BQ-7045-01A-31D-1961-08	TCGA-BQ-7045-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	413a9e10-cac7-4b6c-91cd-b58fd4499c07	0ed1c015-2f52-4269-98d4-b78e9323f29c	g.chr15:89422488delG	uc002bnd.3	-	4	773	c.692delC	c.(691-693)cctfs	p.P231fs	HAPLN3_uc002bnc.3_Frame_Shift_Del_p.P169fs|HAPLN3_uc002bne.3_Non-coding_Transcript	NM_178232	NP_839946	Q96S86	HPLN3_HUMAN	Homo sapiens hyaluronan and proteoglycan link protein 3 (HAPLN3), mRNA.	169	Link 1.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)	17	Lung NSC(78;0.0392)|all_lung(78;0.077)					GGACTGGTAAGGAAAGACCAC	0.632											OREG0023445	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	46	---	---	19	---					
SRCAP	10847	broad.mit.edu	37	16	30736370	30736371	+	Frame_Shift_Ins	INS	-	C	C			TCGA-BQ-7045-01A-31D-1961-08	TCGA-BQ-7045-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	413a9e10-cac7-4b6c-91cd-b58fd4499c07	0ed1c015-2f52-4269-98d4-b78e9323f29c	g.chr16:30736370_30736371insC	uc002dze.1	+	24	6010_6011	c.5625_5626insC	c.(5623-5628)cagcccfs	p.Q1875fs	SRCAP_uc002dzf.3_Non-coding_Transcript|SRCAP_uc002dzg.1_Frame_Shift_Ins_p.Q1670fs	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Homo sapiens Snf2-related CREBBP activator protein (SRCAP), mRNA.	1875	Pro-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			CTCGACGCCAGCCCCCCCCACC	0.569													---	235	---	---	9	---					
LINC00266-1	140849	broad.mit.edu	37	20	62926391	62926395	+	RNA	DEL	GATAC	-	-			TCGA-BQ-7045-01A-31D-1961-08	TCGA-BQ-7045-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	413a9e10-cac7-4b6c-91cd-b58fd4499c07	0ed1c015-2f52-4269-98d4-b78e9323f29c	g.chr20:62926391_62926395delGATAC	uc002yio.1	+	1		c.498_502delGATAC								Homo sapiens long intergenic non-protein coding RNA 266-1 (LINC00266-1), non-coding RNA.																		GCTGAGCACTGATACAAAGAAAGAC	0.385													---	4	---	---	3	---					
DNAJC28	54943	broad.mit.edu	37	21	34861049	34861050	+	Frame_Shift_Ins	INS	-	A	A			TCGA-BQ-7045-01A-31D-1961-08	TCGA-BQ-7045-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	413a9e10-cac7-4b6c-91cd-b58fd4499c07	0ed1c015-2f52-4269-98d4-b78e9323f29c	g.chr21:34861049_34861050insA	uc021wim.1	-	0	651_652	c.651_652insT	c.(649-654)tttgacfs	p.F217fs	DNAJC28_uc002yrv.3_Frame_Shift_Ins_p.F217fs|DNAJC28_uc002yrw.3_Frame_Shift_Ins_p.F217fs	NM_017833	NP_060303	Q9NX36	DJC28_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 28 (DNAJC28), transcript variant 1, mRNA.	217							heat shock protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(5)|skin(1)|urinary_tract(1)	18						CTGAGATTGTCAAAGTCTCCTT	0.386													---	154	---	---	51	---					
PLAC4	191585	broad.mit.edu	37	21	42551103	42551104	+	Frame_Shift_Ins	INS	-	C	C			TCGA-BQ-7045-01A-31D-1961-08	TCGA-BQ-7045-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	413a9e10-cac7-4b6c-91cd-b58fd4499c07	0ed1c015-2f52-4269-98d4-b78e9323f29c	g.chr21:42551103_42551104insC	uc002yyz.3	-	0	6063_6064	c.452_453insG	c.(451-453)tgafs	p.*151fs	BACE2_uc002yyw.3_Intron|BACE2_uc002yyx.3_Intron|BACE2_uc002yyy.3_Intron	NM_182832	NP_878252	Q8WY50	PLAC4_HUMAN	Homo sapiens placenta-specific 4 (PLAC4), mRNA.	0													Prostate(19;2.29e-06)				AGTGAGGGTGTCAGGGTGAGGA	0.624													---	3	---	---	3	---					
