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
IL36G	56300	broad.mit.edu	37	2	113737702	113737702	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr2:113737702G>A	uc002tio.1	+	3	346	c.277G>A	c.(277-279)Gaa>Aaa	p.E93K	IL36G_uc010fkr.1_Missense_Mutation_p.E58K	NM_019618	NP_062564	Q9NZH8	IL36G_HUMAN	Homo sapiens interleukin 36, gamma (IL36G), mRNA.	93					cell-cell signaling	extracellular space	cytokine activity|interleukin-1 receptor antagonist activity			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|skin(1)	14						GAAGGTTGGAGAACAGCCCAC	0.378000														34			9		0	0	1	0	0
GPLD1	2822	broad.mit.edu	37	6	24448150	24448150	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr6:24448150C>T	uc003ned.1	-	16	1744	c.1633G>A	c.(1633-1635)Gga>Aga	p.G545R	GPLD1_uc010jpr.1_Missense_Mutation_p.G382R|GPLD1_uc010jps.1_Missense_Mutation_p.G545R	NM_001503	NP_001494	P80108	PHLD_HUMAN	Homo sapiens glycosylphosphatidylinositol specific phospholipase D1 (GPLD1), transcript variant 1, mRNA.	545						extracellular region	glycosylphosphatidylinositol phospholipase D activity	p.G545R(2)		breast(3)|endometrium(5)|kidney(1)|large_intestine(11)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	32						GCCACAATTCCCTTCTGCTTC	0.552000														30			18		0	0	1	0	0
PUS10	150962	broad.mit.edu	37	2	61192596	61192596	+	Silent	SNP	G	A	A			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr2:61192596G>A	uc010fci.3	-	6	699	c.639C>T	c.(637-639)gtC>gtT	p.V213V	PUS10_uc002sao.3_Silent_p.V213V|PUS10_uc010ypk.2_Intron	NM_144709	NP_653310	Q3MIT2	PUS10_HUMAN	Homo sapiens pseudouridylate synthase 10 (PUS10), mRNA.	213					pseudouridine synthesis|tRNA processing		RNA binding|pseudouridine synthase activity	p.V212V(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)	22			LUSC - Lung squamous cell carcinoma(5;1.56e-06)|Lung(5;2.48e-05)|Epithelial(17;0.113)			GGTGAGCAAAGACCACACTCA	0.333000														97			68		0	0	1	0	0
KCNK5	8645	broad.mit.edu	37	6	39159118	39159118	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr6:39159118T>C	uc003oon.3	-	4	1412	c.1048A>G	c.(1048-1050)Aac>Gac	p.N350D		NM_003740	NP_003731	O95279	KCNK5_HUMAN	Homo sapiens potassium channel, subfamily K, member 5 (KCNK5), mRNA.	350					excretion	integral to plasma membrane	potassium channel activity|voltage-gated ion channel activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(4)|skin(3)	19						GGCACCCGGTTCTTGGAGTAG	0.672000														23			16		0	0	1	0	0
RPP40	10799	broad.mit.edu	37	6	4995379	4995379	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr6:4995379A>C	uc003mwl.3	-	7	1060	c.1025T>G	c.(1024-1026)gTg>gGg	p.V342G	RPP40_uc003mwm.3_Missense_Mutation_p.V319G	NM_006638	NP_006629	O75818	RPP40_HUMAN	Homo sapiens ribonuclease P/MRP 40kDa subunit (RPP40), mRNA.	342					tRNA processing	nucleolar ribonuclease P complex	protein binding|ribonuclease P activity			NS(1)|breast(1)|large_intestine(4)|lung(4)|ovary(1)|skin(2)|urinary_tract(1)	14	Ovarian(93;0.11)	all_hematologic(90;0.0895)				ATTAAAAATCACAAAGTTATA	0.358000														61			40		0	0	1	0	0
MNDA	4332	broad.mit.edu	37	1	158817535	158817535	+	Silent	SNP	G	A	A			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr1:158817535G>A	uc001fsz.1	+	5	1205	c.1005G>A	c.(1003-1005)aaG>aaA	p.K335K		NM_002432	NP_002423	P41218	MNDA_HUMAN	Homo sapiens myeloid cell nuclear differentiation antigen (MNDA), mRNA.	335	HIN-200.				B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding	p.K335N(2)		NS(2)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(26)|ovary(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	all_hematologic(112;0.0378)					TACACAAGAAGAACACAATTT	0.363000														121			69		0	0	1	0	0
FNDC1	84624	broad.mit.edu	37	6	159660580	159660580	+	Silent	SNP	C	T	T			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr6:159660580C>T	uc010kjv.3	+	13	4412	c.4212C>T	c.(4210-4212)gaC>gaT	p.D1404D	FNDC1_uc010kjw.1_Silent_p.D1289D	NM_032532	NP_115921	Q4ZHG4	FNDC1_HUMAN	Homo sapiens fibronectin type III domain containing 1 (FNDC1), mRNA.	1404						extracellular region				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		TGAGTCCTGACGGCCTCCCAC	0.512000														6			6		0	0	1	0	0
APCDD1L	164284	broad.mit.edu	37	20	57036482	57036482	+	Silent	SNP	C	T	T			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr20:57036482C>T	uc010zzp.1	-	4	1227	c.903G>A	c.(901-903)gaG>gaA	p.E301E	APCDD1L_uc002xze.1_Silent_p.E290E	NM_153360	NP_699191	Q8NCL9	APCDL_HUMAN	Homo sapiens adenomatosis polyposis coli down-regulated 1-like (APCDD1L), mRNA.	290						integral to membrane				large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(1)	18	Lung NSC(12;0.000856)|all_lung(29;0.0025)		BRCA - Breast invasive adenocarcinoma(13;5.6e-11)|Epithelial(14;1.67e-07)|all cancers(14;1.48e-06)			CTGGGCGCACCTCGCACCCCG	0.692000														5			7		0	0	1	0	0
CAMTA1	23261	broad.mit.edu	37	1	7151399	7151399	+	Silent	SNP	C	T	T	rs146654528	byFrequency	TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr1:7151399C>T	uc001aoi.3	+	3	477	c.270C>T	c.(268-270)caC>caT	p.H90H		NM_015215	NP_056030	Q9Y6Y1	CMTA1_HUMAN	Homo sapiens calmodulin binding transcription activator 1 (CAMTA1), transcript variant 1, mRNA.	90					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		TTGAGAAACACGAAGAATGGC	0.358000			T	WWTR1	epitheliod hemangioendothelioma									33			18		0	0	1	0	0
CMIP	80790	broad.mit.edu	37	16	81730263	81730263	+	Silent	SNP	C	T	T			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr16:81730263C>T	uc002fgp.3	+	13	1701	c.1629C>T	c.(1627-1629)ttC>ttT	p.F543F	CMIP_uc002fgq.2_Silent_p.F449F|CMIP_uc010vnq.2_Silent_p.F356F|CMIP_uc002fgr.2_Silent_p.F390F|CMIP_uc010vnr.1_Silent_p.F109F	NM_198390	NP_938204	Q8IY22	CMIP_HUMAN	Homo sapiens c-Maf inducing protein (CMIP), transcript variant 1, mRNA.	509						cytoplasm|nucleus				endometrium(5)|kidney(1)|lung(7)	13						GGGAGCTGTTCGCCAGCATGG	0.657000														6			8		0	0	1	0	0
GATAD2B	57459	broad.mit.edu	37	1	153788863	153788863	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr1:153788863G>A	uc001fdb.4	-	6	1346	c.1102C>T	c.(1102-1104)Cca>Tca	p.P368S		NM_020699	NP_065750	Q8WXI9	P66B_HUMAN	Homo sapiens GATA zinc finger domain containing 2B (GATAD2B), mRNA.	368	CR2.					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	38	all_lung(78;1.34e-32)|Lung NSC(65;1.04e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			TTAGGGGGTGGGATCTCCAGG	0.527000														74			49		0	0	1	0	0
BSN	8927	broad.mit.edu	37	3	49699266	49699266	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr3:49699266C>T	uc003cxe.4	+	5	10102	c.9988C>T	c.(9988-9990)Cga>Tga	p.R3330*		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	Homo sapiens bassoon (presynaptic cytomatrix protein) (BSN), mRNA.	3330					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		GCATGGGGCTCGAGTAGAGAA	0.617000														26			15		0	0	1	0	0
LONRF3	79836	broad.mit.edu	37	X	118123396	118123396	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chrX:118123396C>T	uc004eqw.3	+	3	1116	c.1085C>T	c.(1084-1086)tCt>tTt	p.S362F	LONRF3_uc004eqx.3_Missense_Mutation_p.S321F|LONRF3_uc004eqy.3_Non-coding_Transcript|LONRF3_uc004eqz.3_Missense_Mutation_p.S106F	NM_001031855	NP_001027026	Q496Y0	LONF3_HUMAN	Homo sapiens LON peptidase N-terminal domain and ring finger 3 (LONRF3), transcript variant 1, mRNA.	362					proteolysis		ATP-dependent peptidase activity|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	36						CCACATTGTTCTAGTCAGGAG	0.498000														13			32		0	0	1	0	0
C1orf173	127254	broad.mit.edu	37	1	75039086	75039086	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr1:75039086C>T	uc001dgg.3	-	13	2527	c.2308G>A	c.(2308-2310)Gag>Aag	p.E770K		NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	Homo sapiens chromosome 1 open reading frame 173 (C1orf173), mRNA.	770	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						TCTTTCTTCTCCAGTGTATAC	0.458000														24			72		0	0	1	0	0
PNMA2	10687	broad.mit.edu	37	8	26365392	26365392	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr8:26365392G>A	uc022atc.1	-	0	880	c.880C>T	c.(880-882)Cgc>Tgc	p.R294C	PNMA2_uc003xez.2_Missense_Mutation_p.R294C	NM_007257	NP_009188	Q9UL42	PNMA2_HUMAN	Homo sapiens paraneoplastic antigen MA2 (PNMA2), mRNA.	294					apoptosis	nucleolus	protein binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)	11		all_cancers(63;0.109)|Ovarian(32;2.61e-05)|all_epithelial(46;0.105)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0196)|Epithelial(17;3.13e-11)|Colorectal(74;0.123)		tgctccaggcggacctggtcc	0.622000														8			16		0	0	1	0	0
SULT2A1	6822	broad.mit.edu	37	19	48377963	48377963	+	Silent	SNP	G	A	A			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr19:48377963G>A	uc002phr.2	-	4	836	c.696C>T	c.(694-696)tcC>tcT	p.S232S		NM_003167	NP_003158	Q06520	ST2A1_HUMAN	Homo sapiens sulfotransferase family, cytosolic, 2A, dehydroepiandrosterone (DHEA)-preferring, member 1 (SULT2A1), mRNA.	232					3'-phosphoadenosine 5'-phosphosulfate metabolic process|bile acid catabolic process|cellular lipid metabolic process|digestion|sulfation|xenobiotic metabolic process	cytosol	bile-salt sulfotransferase activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)	20		all_cancers(25;3.02e-09)|all_lung(116;6.48e-07)|all_epithelial(76;7.35e-07)|Lung NSC(112;1.56e-06)|all_neural(266;0.0146)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000254)|all cancers(93;0.000545)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.0552)		CACTCAGGAGGGAATAATTGG	0.393000														71			36		0	0	1	0	0
ATR	545	broad.mit.edu	37	3	142185365	142185365	+	Missense_Mutation	SNP	C	G	G			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr3:142185365C>G	uc003eux.4	-	39	6820	c.6698G>C	c.(6697-6699)aGt>aCt	p.S2233T	ATR_uc003euy.1_Missense_Mutation_p.S119T	NM_001184	NP_001175	Q13535	ATR_HUMAN	Homo sapiens ataxia telangiectasia and Rad3 related (ATR), mRNA.	2233			S -> I (in a lung large cell carcinoma sample; somatic mutation).		DNA damage checkpoint|DNA repair|DNA replication|cell cycle|cellular response to UV|cellular response to gamma radiation|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity	p.S2233I(2)		NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						TGTGGAACTACTTCCATCAAC	0.289000								Other conserved DNA damage response genes						30			20		0	0	1	0	0
KCTD19	146212	broad.mit.edu	37	16	67327453	67327453	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr16:67327453C>T	uc002esu.2	-	11	2263	c.2212G>A	c.(2212-2214)Gag>Aag	p.E738K	KCTD19_uc002est.2_Missense_Mutation_p.E510K|KCTD19_uc010vjj.1_Missense_Mutation_p.E481K	NM_001100915	NP_001094385	Q17RG1	KCD19_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 19 (KCTD19), mRNA.	738						voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)		TCACCTCTCTCCTTGGTCCTC	0.517000														27			27		0	0	1	0	0
TCHH	7062	broad.mit.edu	37	1	152082677	152082677	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr1:152082677C>T	uc009wne.1	-	2	3288	c.3016G>A	c.(3016-3018)Gag>Aag	p.E1006K	TCHH_uc001ezp.2_Missense_Mutation_p.E1006K	NM_007113	NP_009044	Q07283	TRHY_HUMAN	Homo sapiens trichohyalin (TCHH), mRNA.	1006	10 X 30 AA tandem repeats.				keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			tcccgttcctctctcagcagc	0.587000														233			146		0	0	1	0	0
ZNF600	162966	broad.mit.edu	37	19	53269883	53269883	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr19:53269883G>A	uc002qab.4	-	2	1412	c.1126C>T	c.(1126-1128)Cat>Tat	p.H376Y	ZNF600_uc021uyz.1_Missense_Mutation_p.H376Y	NM_198457	NP_940859	Q6ZNG1	ZN600_HUMAN	Homo sapiens zinc finger protein 600 (ZNF600), mRNA.	376					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(4)|large_intestine(9)|liver(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(262;0.0241)|GBM - Glioblastoma multiforme(134;0.0404)		AGTCTATGATGGCATACAAGG	0.408000														145			84		0	0	1	0	0
NCKAP1L	3071	broad.mit.edu	37	12	54893186	54893186	+	Silent	SNP	C	T	T			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr12:54893186C>T	uc001sgc.4	+	1	229	c.150C>T	c.(148-150)tcC>tcT	p.S50S	NCKAP1L_uc010sox.2_5'UTR|NCKAP1L_uc010soy.2_5'UTR	NM_005337	NP_005328	P55160	NCKPL_HUMAN	Homo sapiens NCK-associated protein 1-like (NCKAP1L), transcript variant 1, mRNA.	50					B cell homeostasis|B cell receptor signaling pathway|T cell homeostasis|actin polymerization-dependent cell motility|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of T cell proliferation|positive regulation of actin filament polymerization|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|protein complex assembly|response to drug	SCAR complex|cytosol|integral to plasma membrane|membrane fraction	Rac GTPase activator activity|protein complex binding|protein kinase activator activity			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						TGGAAAAGTCCATGGAACCAT	0.413000														65			36		0	0	1	0	0
MED23	9439	broad.mit.edu	37	6	131940974	131940974	+	Silent	SNP	G	A	A			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr6:131940974G>A	uc003qcs.1	-	7	834	c.660C>T	c.(658-660)tcC>tcT	p.S220S	MED23_uc003qcq.3_Silent_p.S220S|MED23_uc003qct.1_Silent_p.S220S|MED23_uc011ecb.1_Non-coding_Transcript	NM_004830	NP_004821	Q9ULK4	MED23_HUMAN	Homo sapiens mediator complex subunit 23 (MED23), transcript variant 1, mRNA.	220					regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor complex	protein binding|transcription coactivator activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	44	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)		TACCACAAATGGAGTTTATCC	0.348000														49			15		0	0	1	0	0
EFEMP1	2202	broad.mit.edu	37	2	56097970	56097970	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr2:56097970G>A	uc002rzi.3	-	10	1706	c.1205C>T	c.(1204-1206)tCt>tTt	p.S402F	EFEMP1_uc002rzj.3_Missense_Mutation_p.S402F|EFEMP1_uc010ypc.2_Missense_Mutation_p.S264F	NM_001039348	NP_001034438	Q12805	FBLN3_HUMAN	Homo sapiens EGF containing fibulin-like extracellular matrix protein 1 (EFEMP1), transcript variant 2, mRNA.	402	Mediates interaction with TIMP3.				negative regulation of chondrocyte differentiation|peptidyl-tyrosine phosphorylation|regulation of transcription, DNA-dependent|visual perception	extracellular space|proteinaceous extracellular matrix	calcium ion binding|epidermal growth factor receptor activity|epidermal growth factor receptor binding|growth factor activity			NS(1)|breast(2)|endometrium(4)|large_intestine(6)|lung(5)|ovary(5)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			AGACCTATCAGATCGGATGCT	0.433000														57			33		0	0	1	0	0
TRPM2	7226	broad.mit.edu	37	21	45860723	45860723	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr21:45860723G>A	uc010gpt.1	+	31	4571	c.4471G>A	c.(4471-4473)Gag>Aag	p.E1491K	TRPM2_uc002zet.1_Missense_Mutation_p.E1441K|TRPM2_uc002zeu.1_Missense_Mutation_p.E1441K|TRPM2_uc021wjr.1_Non-coding_Transcript|TRPM2_uc002zew.1_Missense_Mutation_p.E1441K|TRPM2_uc002zex.1_Missense_Mutation_p.E1227K|TRPM2_uc002zey.1_Missense_Mutation_p.E920K|TRPM2_uc011aff.1_Missense_Mutation_p.E122K	NM_003307	NP_003298	O94759	TRPM2_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 2 (TRPM2), transcript variant 1, mRNA.	1441	Nudix hydrolase.					integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity	p.E1441K(1)		breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						TGCCTGGATCGAGACGGTGGC	0.622000														14			50		0	0	1	0	0
MBOAT7	79143	broad.mit.edu	37	19	54684685	54684685	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr19:54684685T>C	uc002qdq.3	-	6	925	c.659A>G	c.(658-660)gAc>gGc	p.D220G	MBOAT7_uc010erg.3_Intron|MBOAT7_uc010yem.2_Missense_Mutation_p.D202G|MBOAT7_uc002qdr.3_Missense_Mutation_p.D220G|MBOAT7_uc002qds.3_Missense_Mutation_p.D147G|MBOAT7_uc010yen.2_Missense_Mutation_p.D147G|MBOAT7_uc002qdt.4_Missense_Mutation_p.D220G	NM_024298	NP_077274	Q96N66	MBOA7_HUMAN	Homo sapiens membrane bound O-acyltransferase domain containing 7 (MBOAT7), transcript variant 1, mRNA.	220					phospholipid biosynthetic process	integral to membrane	acyltransferase activity			endometrium(4)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	10	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					GTAGAAGGCGTCCTCGCGCAC	0.706000											OREG0003644	type=REGULATORY REGION|Gene=AK123290|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay		1			4		0	0	1	0	0
GMIP	51291	broad.mit.edu	37	19	19749226	19749226	+	Silent	SNP	C	T	T			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr19:19749226C>T	uc002nnd.3	-	7	720	c.603G>A	c.(601-603)aaG>aaA	p.K201K	GMIP_uc010xrb.2_Silent_p.K201K|GMIP_uc010xrc.2_Silent_p.K201K	NM_016573	NP_057657	Q9P107	GMIP_HUMAN	Homo sapiens GEM interacting protein (GMIP), mRNA.	201					negative regulation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	Rho GTPase activator activity|metal ion binding|protein binding			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						GCTTCTGCTCCTTCATCCACT	0.602000														28			10		0	0	1	0	0
MAPT	4137	broad.mit.edu	37	17	44073845	44073845	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr17:44073845C>T	uc002ijr.4	+	9	1910	c.1588C>T	c.(1588-1590)Ccg>Tcg	p.P530S	MAPT_uc010dau.3_Missense_Mutation_p.P548S|MAPT_uc002ijs.4_Missense_Mutation_p.P213S|MAPT_uc002ijx.4_Missense_Mutation_p.P184S|MAPT_uc021tyv.1_Missense_Mutation_p.P213S|MAPT_uc002ijt.4_Missense_Mutation_p.P155S|MAPT_uc021tyw.1_Missense_Mutation_p.P184S|MAPT_uc002iju.4_Missense_Mutation_p.P155S|STH_uc002ijy.2_5'Flank	NM_016835	NP_058519	P10636	TAU_HUMAN	Homo sapiens microtubule-associated protein tau (MAPT), transcript variant 1, mRNA.	530					cellular component disassembly involved in apoptosis|microtubule cytoskeleton organization|negative regulation of microtubule depolymerization|positive regulation of axon extension|positive regulation of microtubule polymerization|regulation of autophagy	axon|cytosol|growth cone|microtubule|microtubule associated complex|nuclear periphery|plasma membrane|tubulin complex	SH3 domain binding|apolipoprotein E binding|enzyme binding|identical protein binding|lipoprotein particle binding|microtubule binding|protein binding|structural constituent of cytoskeleton			breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		Melanoma(429;0.216)				CTCCCGCACCCCGTCCCTTCC	0.677000														19			14		0	0	1	0	0
ATP1A4	480	broad.mit.edu	37	1	160145985	160145985	+	Silent	SNP	C	T	T			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr1:160145985C>T	uc001fve.4	+	15	2894	c.2415C>T	c.(2413-2415)ccC>ccT	p.P805P	ATP1A4_uc001fvf.4_Non-coding_Transcript|ATP1A4_uc001fvg.3_Silent_p.P308P|ATP1A4_uc001fvh.3_5'Flank	NM_144699	NP_653300	Q13733	AT1A4_HUMAN	Homo sapiens ATPase, Na+/K+ transporting, alpha 4 polypeptide (ATP1A4), transcript variant 1, mRNA.	805					ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility	sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TCGGTATACCCCTGCCTCTGG	0.512000														148			128		0	0	1	0	0
GDAP1	54332	broad.mit.edu	37	8	75275190	75275190	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr8:75275190A>G	uc003yah.3	+	4	675	c.596A>G	c.(595-597)cAt>cGt	p.H199R	GDAP1_uc011lfj.2_Missense_Mutation_p.H84R|GDAP1_uc003yai.3_Missense_Mutation_p.H131R	NM_018972	NP_001035808	Q8TB36	GDAP1_HUMAN	Homo sapiens ganglioside-induced differentiation-associated protein 1 (GDAP1), transcript variant 1, mRNA.	199	GST C-terminal.					cytoplasm				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	Breast(64;0.00769)	Myeloproliferative disorder(644;0.0122)	BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.104)|all cancers(69;0.234)			CTGCTTGATCATGACAATGTC	0.323000														258			35		0	0	1	0	0
KNDC1	85442	broad.mit.edu	37	10	135012112	135012112	+	Silent	SNP	C	T	T			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr10:135012112C>T	uc001llz.1	+	13	2101	c.2100C>T	c.(2098-2100)tcC>tcT	p.S700S	KNDC1_uc001lma.1_Silent_p.S635S|KNDC1_uc001lmb.1_Silent_p.S112S	NM_152643	NP_689856	Q76NI1	VKIND_HUMAN	Homo sapiens kinase non-catalytic C-lobe domain (KIND) containing 1 (KNDC1), transcript variant 1, mRNA.	700					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction					NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		AGGAGGAGTCCGAGGAGAGGG	0.721000														3			5		0	0	1	0	0
BAMBI	25805	broad.mit.edu	37	10	28971193	28971193	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr10:28971193A>C	uc001iuj.1	+	2	1049	c.646A>C	c.(646-648)Atg>Ctg	p.M216L		NM_012342	NP_036474	Q13145	BAMBI_HUMAN	Homo sapiens BMP and activin membrane-bound inhibitor homolog (Xenopus laevis) (BAMBI), mRNA.	216					cell migration|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of cell proliferation|positive regulation of epithelial to mesenchymal transition|positive regulation of protein binding|positive regulation of transcription, DNA-dependent|regulation of cell shape	cytoplasm|integral to membrane|plasma membrane	frizzled binding|type II transforming growth factor beta receptor binding			central_nervous_system(5)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)	17						CTTGGAATGCATGGTGCCGGT	0.522000														54			28		0	0	1	0	0
C2orf15	150590	broad.mit.edu	37	2	99767217	99767217	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr2:99767217G>A	uc002szk.3	+	3	697	c.298G>A	c.(298-300)Gga>Aga	p.G100R	TSGA10_uc002szi.4_Intron|MRPL30_uc002szl.1_Intron	NM_144706	NP_653307	Q8WU43	CB015_HUMAN	Homo sapiens chromosome 2 open reading frame 15 (C2orf15), mRNA.	100										autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(1)	6						GACTGGCACAGGATCTCTTTC	0.393000														72			29		0	0	1	0	0
CCDC68	80323	broad.mit.edu	37	18	52609974	52609974	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr18:52609974C>T	uc002lfs.3	-	2	221	c.49G>A	c.(49-51)Gaa>Aaa	p.E17K	CCDC68_uc002lft.3_Missense_Mutation_p.E17K	NM_001143829	NP_079490	Q9H2F9	CCD68_HUMAN	Homo sapiens coiled-coil domain containing 68 (CCDC68), transcript variant 2, mRNA.	17										breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(3)|stomach(1)	14				Colorectal(16;0.0256)|READ - Rectum adenocarcinoma(59;0.21)		GAATTATCTTCCATCTTATCC	0.388000														52			33		0	0	1	0	0
UTP20	27340	broad.mit.edu	37	12	101703598	101703598	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr12:101703598C>T	uc001tia.1	+	18	2368	c.2212C>T	c.(2212-2214)Cct>Tct	p.P738S		NM_014503	NP_055318	O75691	UTP20_HUMAN	Homo sapiens UTP20, small subunit (SSU) processome component, homolog (yeast) (UTP20), mRNA.	738					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						ACTCTGGGATCCTGTTATTGA	0.373000														101			51		0	0	1	0	0
ZNF33B	7582	broad.mit.edu	37	10	43089606	43089606	+	Silent	SNP	G	A	A			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr10:43089606G>A	uc001jaf.1	-	4	907	c.792C>T	c.(790-792)ttC>ttT	p.F264F	ZNF33B_uc009xmg.1_Intron|ZNF33B_uc001jae.1_Intron|ZNF33B_uc001jag.1_Silent_p.F152F|ZNF33B_uc001jad.3_Intron	NM_006955	NP_008886	Q06732	ZN33B_HUMAN	Homo sapiens zinc finger protein 33B (ZNF33B), mRNA.	264						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(15)|skin(1)|stomach(1)	29						GTATCTGATGGAACAAGAGGG	0.398000														57			32		0	0	1	0	0
CUL3	8452	broad.mit.edu	37	2	225346638	225346638	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr2:225346638G>A	uc010fwy.1	-	13	2071	c.2018C>T	c.(2017-2019)tCc>tTc	p.S673F	CUL3_uc010zls.1_Missense_Mutation_p.S601F|CUL3_uc002vny.2_Missense_Mutation_p.S667F	NM_003590	NP_003581	Q13618	CUL3_HUMAN	Homo sapiens cullin 3 (CUL3), mRNA.	667					G1/S transition of mitotic cell cycle|cell cycle arrest|cell migration|cyclin catabolic process|cytokinesis|induction of apoptosis by intracellular signals|mitotic anaphase|negative regulation of Rho protein signal transduction|positive regulation of cell proliferation|protein ubiquitination|stress fiber assembly	Cul3-RING ubiquitin ligase complex|Golgi apparatus|nucleus|polar microtubule	ubiquitin protein ligase binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	46		all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138)		Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902)		GTGTAGTTTGGATGTGAATTG	0.308000														58			37		0	0	1	0	0
RFX6	222546	broad.mit.edu	37	6	117252517	117252517	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr6:117252517C>T	uc003pxm.3	+	18	2698	c.2635C>T	c.(2635-2637)Cct>Tct	p.P879S		NM_173560	NP_775831	Q8HWS3	RFX6_HUMAN	Homo sapiens regulatory factor X, 6 (RFX6), mRNA.	879					glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						AACCCCAATTCCTTCTTCCTC	0.398000														111			26		0	0	1	0	0
PPP1R3A	5506	broad.mit.edu	37	7	113518106	113518106	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr7:113518106A>G	uc010ljy.1	-	3	3072	c.3041T>C	c.(3040-3042)aTc>aCc	p.I1014T		NM_002711	NP_002702	Q16821	PPR3A_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 3A (PPP1R3A), mRNA.	1014					glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						AGGTTTGTTGATTAAAATCAT	0.383000														111			84		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179642155	179642155	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr2:179642155G>A	uc021vsy.1	-	25	4862	c.4637C>T	c.(4636-4638)aCt>aTt	p.T1546I	TTN_uc021vsz.1_Missense_Mutation_p.T1500I|TTN_uc021vta.1_Missense_Mutation_p.T1500I|TTN_uc021vtb.1_Missense_Mutation_p.T1500I|TTN_uc002unb.2_Missense_Mutation_p.T1546I|AK123298_uc002unc.1_Non-coding_Transcript	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	1546	Ig-like 6.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACCTTCCACAGTTAAAATCAC	0.378000														31			14		0	0	1	0	0
FAM47A	158724	broad.mit.edu	37	X	34149499	34149499	+	Silent	SNP	C	T	T			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chrX:34149499C>T	uc004ddg.3	-	0	949	c.897G>A	c.(895-897)ggG>ggA	p.G299G		NM_203408	NP_981953	Q5JRC9	FA47A_HUMAN	Homo sapiens family with sequence similarity 47, member A (FAM47A), mRNA.	299								p.G299E(1)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						GACAGAATTTCCCACAAGGGT	0.597000														6			9		0	0	1	0	0
RIMS1	22999	broad.mit.edu	37	6	72975138	72975138	+	Silent	SNP	G	A	A			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr6:72975138G>A	uc003pga.3	+	20	3317	c.3240G>A	c.(3238-3240)caG>caA	p.Q1080Q	RIMS1_uc011dyb.2_Intron|RIMS1_uc003pgc.3_Intron|RIMS1_uc010kaq.3_Intron|RIMS1_uc011dyc.2_Intron|RIMS1_uc010kar.3_Intron|RIMS1_uc011dyd.2_Intron|RIMS1_uc003pge.3_Intron|RIMS1_uc003pgf.3_Intron|RIMS1_uc003pgi.3_Intron|RIMS1_uc003pgg.3_Intron|RIMS1_uc003pgh.3_Intron|RIMS1_uc003pgd.3_Intron|RIMS1_uc011dye.2_Intron|RIMS1_uc011dyf.2_Intron|RIMS1_uc010kas.1_Intron	NM_014989	NP_055804	Q86UR5	RIMS1_HUMAN	Homo sapiens regulating synaptic membrane exocytosis 1 (RIMS1), transcript variant 1, mRNA.	1080					calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	Rab GTPase binding|metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				TGACTAGACAGGACATTTCCC	0.303000														37			17		0	0	1	0	0
KRT5	3852	broad.mit.edu	37	12	52911460	52911460	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr12:52911460C>T	uc001san.3	-	4	1169	c.1006G>A	c.(1006-1008)Gat>Aat	p.D336N	KRT5_uc009zmh.3_Missense_Mutation_p.D336N	NM_000424	NP_000415	P13647	K2C5_HUMAN	Homo sapiens keratin 5 (KRT5), mRNA.	336	Linker 12.|Rod.				epidermis development|hemidesmosome assembly	cytosol|keratin filament	protein binding|structural constituent of cytoskeleton	p.L335L(1)		endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2)	35				BRCA - Breast invasive adenocarcinoma(357;0.189)		ATGATGCTATCCAGGTCCAGG	0.572000														112			42		0	0	1	0	0
DAOA	267012	broad.mit.edu	37	13	106142351	106142351	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr13:106142351G>A	uc001vqb.3	+	3	657	c.383G>A	c.(382-384)cGa>cAa	p.R128Q	DAOA-AS1_uc021rmh.1_Non-coding_Transcript|DAOA_uc010tjf.2_Missense_Mutation_p.R57Q|DAOA_uc001vpz.3_Non-coding_Transcript|DAOA_uc010agd.3_Non-coding_Transcript|DAOA_uc010tjg.2_Missense_Mutation_p.R100Q|DAOA_uc001vqc.3_Non-coding_Transcript|DAOA_uc001vqe.3_Non-coding_Transcript	NM_172370	NP_001155286	P59103	DAOA_HUMAN	Homo sapiens D-amino acid oxidase activator (DAOA), transcript variant 1, mRNA.	128						Golgi apparatus				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|skin(1)	13	Lung NSC(43;0.01)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169)					cctctagaacgaatgtggacc	0.458000														23			11		0	0	1	0	0
GBA3	57733	broad.mit.edu	37	4	22820516	22820516	+	Silent	SNP	C	T	T			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr4:22820516C>T	uc003gqp.4	+	5	1468	c.1377C>T	c.(1375-1377)atC>atT	p.I459I	GBA3_uc010iep.3_Silent_p.I152I|GBA3_uc011bxo.2_3'UTR	NM_020973	NP_066024	Q9H227	GBA3_HUMAN	Homo sapiens glucosidase, beta, acid 3 (cytosolic) (GBA3), transcript variant 1, mRNA.	460					glycoside catabolic process|glycosylceramide catabolic process	cytosol	beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity			breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						CCAAGATCATCCGAAACAATG	0.483000														21			14		0	0	1	0	0
HCLS1	3059	broad.mit.edu	37	3	121354627	121354627	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr3:121354627C>T	uc003eeh.4	-	8	771	c.646G>A	c.(646-648)Gag>Aag	p.E216K	HCLS1_uc011bjj.2_Missense_Mutation_p.E179K|HCLS1_uc011bjk.1_Non-coding_Transcript	NM_005335	NP_005326	P14317	HCLS1_HUMAN	Homo sapiens hematopoietic cell-specific Lyn substrate 1 (HCLS1), mRNA.	216					erythrocyte differentiation|intracellular signal transduction|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of STAT protein|response to hormone stimulus	mitochondrion|nucleus|plasma membrane	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				GBM - Glioblastoma multiforme(114;0.0912)		GTCGGGGCCTCCATTTCATTG	0.547000														57			35		0	0	1	0	0
CENPF	1063	broad.mit.edu	37	1	214817949	214817949	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr1:214817949C>T	uc001hkm.3	+	12	5210	c.5036C>T	c.(5035-5037)tCa>tTa	p.S1679L		NM_016343	NP_057427	P49454	CENPF_HUMAN	Homo sapiens centromere protein F, 350/400kDa (mitosin) (CENPF), mRNA.	1775					DNA replication|G2 phase of mitotic cell cycle|cell differentiation|cell division|cell proliferation|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		GAACATACTTCAGAAACTACA	0.338000														62			21		0	0	1	0	0
CSAG1	158511	broad.mit.edu	37	X	151904512	151904512	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chrX:151904512A>G	uc004fge.3	+	2	338	c.10A>G	c.(10-12)Act>Gct	p.T4A	MAGEA12_uc004fgb.3_5'Flank|MAGEA12_uc010ntp.3_5'Flank|MAGEA12_uc022chi.1_5'Flank|MAGEA12_uc004fgc.3_5'Flank|CSAG1_uc004fgf.3_Missense_Mutation_p.T4A|CSAG1_uc004fgd.3_Non-coding_Transcript	NM_153478	NP_705611	Q6PB30	CSAG1_HUMAN	Homo sapiens chondrosarcoma associated gene 1 (CSAG1), transcript variant a, mRNA.	4										central_nervous_system(1)|kidney(1)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	7	Acute lymphoblastic leukemia(192;6.56e-05)					AATGTCGGCGACTACAGGTAA	0.358000														42			4		0	0	1	0	0
NYNRIN	57523	broad.mit.edu	37	14	24885517	24885517	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr14:24885517G>A	uc001wpf.4	+	8	4880	c.4562G>A	c.(4561-4563)gGc>gAc	p.G1521D		NM_025081	NP_079357	Q9P2P1	NYNRI_HUMAN	Homo sapiens NYN domain and retroviral integrase containing (NYNRIN), mRNA.	1521					DNA integration	integral to membrane	DNA binding			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						AAGGAGAGTGGCCTGCTTATG	0.552000														4			8		0	0	1	0	0
SLC15A2	6565	broad.mit.edu	37	3	121648188	121648188	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr3:121648188A>G	uc003eep.2	+	16	1699	c.1546A>G	c.(1546-1548)Acc>Gcc	p.T516A	SLC15A2_uc011bjn.1_Missense_Mutation_p.T485A	NM_021082	NP_066568	Q16348	S15A2_HUMAN	Homo sapiens solute carrier family 15 (H+/peptide transporter), member 2 (SLC15A2), transcript variant 1, mRNA.	516					protein transport	integral to plasma membrane	peptide:hydrogen symporter activity|protein binding			NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(114;0.0967)	Cefadroxil(DB01140)	TGGGATGACAACCGTGAGGTT	0.393000														77			47		0	0	1	0	0
CCDC141	285025	broad.mit.edu	37	2	179701691	179701691	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr2:179701691T>G	uc002une.2	-	22	4373	c.4255A>C	c.(4255-4257)Act>Cct	p.T1419P	CCDC141_uc002unf.1_Missense_Mutation_p.T898P	NM_173648	NP_775919	Q6ZP82	CC141_HUMAN	Homo sapiens coiled-coil domain containing 141 (CCDC141), mRNA.	844							protein binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			TCCATGACAGTTACATTAGAC	0.458000														40			24		0	0	1	0	0
ADHFE1	137872	broad.mit.edu	37	8	67356917	67356917	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr8:67356917C>T	uc003xwb.4	+	4	321	c.287C>T	c.(286-288)tCc>tTc	p.S96F	ADHFE1_uc003xwd.4_Non-coding_Transcript|ADHFE1_uc003xwc.4_Missense_Mutation_p.S48F|ADHFE1_uc003xwe.4_Non-coding_Transcript|ADHFE1_uc003xwf.4_Non-coding_Transcript|ADHFE1_uc011les.2_Missense_Mutation_p.S26F|ADHFE1_uc011leq.1_Non-coding_Transcript|ADHFE1_uc011ler.1_Non-coding_Transcript	NM_144650	NP_653251	Q8IWW8	HOT_HUMAN	Homo sapiens alcohol dehydrogenase, iron containing, 1 (ADHFE1), nuclear gene encoding mitochondrial protein, mRNA.	96					2-oxoglutarate metabolic process|molecular hydrogen transport	mitochondrial matrix	hydroxyacid-oxoacid transhydrogenase activity|metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	29		Lung NSC(129;0.197)	Epithelial(68;0.0321)|all cancers(69;0.0751)|BRCA - Breast invasive adenocarcinoma(89;0.0855)|OV - Ovarian serous cystadenocarcinoma(28;0.226)			GCTATGGATTCCCTAGTGAAG	0.403000														165			443		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179454279	179454279	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr2:179454279C>T	uc021vsy.1	-	252	54694	c.54469G>A	c.(54469-54471)Gaa>Aaa	p.E18157K	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.E11852K|TTN_uc021vta.1_Missense_Mutation_p.E11785K|TTN_uc021vtb.1_Missense_Mutation_p.E11660K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	19084	Ig-like 105.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TAGTGAGTTTCTTTAATGCTT	0.433000														59			43		0	0	1	0	0
TLL1	7092	broad.mit.edu	37	4	166996110	166996110	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr4:166996110C>T	uc003irh.2	+	16	2916	c.2269C>T	c.(2269-2271)Cgt>Tgt	p.R757C	TLL1_uc011cjn.2_Missense_Mutation_p.R780C|TLL1_uc011cjo.2_Missense_Mutation_p.R581C	NM_012464	NP_036596	O43897	TLL1_HUMAN	Homo sapiens tolloid-like 1 (TLL1), transcript variant 1, mRNA.	757	EGF-like 2; calcium-binding (Potential).				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding	p.R757C(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		GTGTCAATGCCGTAATGGATT	0.408000														99			65		0	0	1	0	0
ZNF280B	140883	broad.mit.edu	37	22	22843138	22843138	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr22:22843138C>T	uc002zwc.1	-	3	1362	c.586G>A	c.(586-588)Gaa>Aaa	p.E196K	abParts_uc021wml.1_Intron|abParts_uc021wmm.1_Intron|ZNF280B_uc021wmn.1_Missense_Mutation_p.E196K	NM_080764	NP_542942	Q86YH2	Z280B_HUMAN	Homo sapiens zinc finger protein 280B (ZNF280B), mRNA.	196					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(2)	22	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		GAATTTCCTTCTATAATTCCA	0.378000														97			69		0	0	1	0	0
RALYL	138046	broad.mit.edu	37	8	85785593	85785593	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr8:85785593C>T	uc003yct.4	+	6	819	c.685C>T	c.(685-687)Cgc>Tgc	p.R229C	RALYL_uc003ycq.4_Missense_Mutation_p.R216C|RALYL_uc003ycr.4_Missense_Mutation_p.R216C|RALYL_uc003ycs.4_Missense_Mutation_p.R216C|RALYL_uc010lzy.3_Missense_Mutation_p.R205C|RALYL_uc003ycu.4_Missense_Mutation_p.R143C	NM_001100391	NP_776247	Q86SE5	RALYL_HUMAN	Homo sapiens RALY RNA binding protein-like (RALYL), transcript variant 1, mRNA.	216							RNA binding|identical protein binding|nucleotide binding	p.E229E(1)		endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)	24						CTTGCTAGGGCGCCTGGAGAA	0.423000														23			4		0	0	1	0	0
THRA	7067	broad.mit.edu	37	17	38243024	38243024	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr17:38243024C>T	uc021twy.1	+	6	1197	c.641C>T	c.(640-642)gCc>gTc	p.A214V	THRA_uc010cwp.1_Missense_Mutation_p.A214V|THRA_uc002htv.3_Missense_Mutation_p.A214V|THRA_uc002htw.3_Missense_Mutation_p.A214V|THRA_uc002htx.3_Missense_Mutation_p.A214V	NM_001190919	NP_003241	P10827	THA_HUMAN	Homo sapiens thyroid hormone receptor, alpha (THRA), transcript variant 4, mRNA.	214	Ligand-binding.				negative regulation of RNA polymerase II transcriptional preinitiation complex assembly|negative regulation of transcription initiation, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription from RNA polymerase II promoter	cytosol|nucleoplasm	TBP-class protein binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone binding|thyroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1)	11	Colorectal(19;0.000442)	Myeloproliferative disorder(1115;0.0255)			Levothyroxine(DB00451)|Liothyronine(DB00279)	GACCTGGAAGCCTTCAGCGAG	0.582000											OREG0024390	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		32			20		0	0	1	0	0
ODZ3	55714	broad.mit.edu	37	4	183720886	183720886	+	Silent	SNP	G	A	A			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr4:183720886G>A	uc003ivd.1	+	26	7557	c.7482G>A	c.(7480-7482)tcG>tcA	p.S2494S		NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA.	2494					signal transduction	integral to membrane				NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(35)|lung(56)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(4)	129		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)		CGGTCAAGTCGCTGATCGGCA	0.692000														3			2		0	0	1	0	0
SLC47A1	55244	broad.mit.edu	37	17	19445774	19445774	+	Silent	SNP	G	A	A			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr17:19445774G>A	uc002gvx.3	+	1	290	c.204G>A	c.(202-204)aaG>aaA	p.K68K	SLC47A1_uc010vyy.1_Non-coding_Transcript|SLC47A1_uc002gvy.1_Silent_p.K68K|SLC47A1_uc010vyz.1_Silent_p.K68K|SLC47A1_uc010cqp.1_Silent_p.K68K	NM_018242	NP_060712	Q96FL8	S47A1_HUMAN	Homo sapiens solute carrier family 47, member 1 (SLC47A1), mRNA.	68						integral to membrane|plasma membrane	drug:hydrogen antiporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(5)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	23	all_cancers(12;2.49e-05)|all_epithelial(12;0.00263)|Hepatocellular(7;0.00345)					ACCTGGGCAAGCTGGAGCTGG	0.542000														49			25		0	0	1	0	0
KRT12	3859	broad.mit.edu	37	17	39023373	39023373	+	Silent	SNP	G	A	A			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr17:39023373G>A	uc002hvk.2	-	0	90	c.66C>T	c.(64-66)tcC>tcT	p.S22S		NM_000223	NP_000214	Q99456	K1C12_HUMAN	Homo sapiens keratin 12 (KRT12), mRNA.	22	Head.				visual perception	intermediate filament	structural molecule activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	15		Breast(137;0.000301)				CACTCTGCGAGGAGAGCCGCC	0.602000														33			14		0	0	1	0	0
SCUBE1	80274	broad.mit.edu	37	22	43617226	43617226	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr22:43617226G>A	uc003bdt.2	-	12	1629	c.1502C>T	c.(1501-1503)cCc>cTc	p.P501L		NM_173050	NP_766638	Q8IWY4	SCUB1_HUMAN	Homo sapiens signal peptide, CUB domain, EGF-like 1 (SCUBE1), mRNA.	501					adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization	external side of plasma membrane|extracellular space|extrinsic to plasma membrane	calcium ion binding|identical protein binding|protein heterodimerization activity	p.R500Q(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_neural(38;0.0414)|Ovarian(80;0.07)				CTGGCTGTGGGGCCGGAGGTG	0.642000														26			9		0	0	1	0	0
PIK3CA	5290	broad.mit.edu	37	3	178928317	178928317	+	Silent	SNP	C	T	T			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr3:178928317C>T	uc003fjk.3	+	8	1660	c.1503C>T	c.(1501-1503)tcC>tcT	p.S501S		NM_006218	NP_006209	P42336	PK3CA_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, alpha polypeptide (PIK3CA), mRNA.	501					T cell costimulation|T cell receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity			NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			GGTCTGTATCCCGAGAAGCAG	0.413000		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)				68			40		0	0	1	0	0
VSTM1	284415	broad.mit.edu	37	19	54545045	54545045	+	Silent	SNP	C	T	T			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr19:54545045C>T	uc002qcw.4	-	7	755	c.579G>A	c.(577-579)agG>agA	p.R193R	VSTM1_uc021vbe.1_Non-coding_Transcript|VSTM1_uc021vbf.1_Silent_p.R105R|VSTM1_uc002qcx.4_Silent_p.R162R|VSTM1_uc010erb.3_Non-coding_Transcript|VSTM1_uc021vbg.1_Silent_p.R73R	NM_198481	NP_940883	Q6UX27	VSTM1_HUMAN	Homo sapiens V-set and transmembrane domain containing 1 (VSTM1), mRNA.	193						integral to membrane				breast(1)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.165)		AGAGAGATACCCTTTCCATAT	0.473000														25			12		0	0	1	0	0
FCGBP	8857	broad.mit.edu	37	19	40367841	40367841	+	Silent	SNP	T	G	G			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr19:40367841T>G	uc002omp.4	-	28	13127	c.13119A>C	c.(13117-13119)gcA>gcC	p.A4373A		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.	4373	TIL 10.					extracellular region	protein binding	p.A4373A(4)		NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			TCGTAAGGGGTGCAGGGGACG	0.627000														22			8		0	0	1	0	0
MKL2	57496	broad.mit.edu	37	16	14234489	14234489	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr16:14234489C>T	uc010uza.2	+	2	181	c.26C>T	c.(25-27)aCc>aTc	p.T9I	MKL2_uc002dcg.3_Missense_Mutation_p.T9I	NM_014048	NP_054767	Q9ULH7	MKL2_HUMAN	Homo sapiens MKL/myocardin-like 2 (MKL2), mRNA.	0					cell differentiation|muscle organ development|positive regulation of striated muscle tissue development|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		identical protein binding|nucleic acid binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GCGATAGACACCGAGGATGAA	0.502000														50			17		0	0	1	0	0
NLRP5	126206	broad.mit.edu	37	19	56544122	56544122	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr19:56544122C>T	uc002qmj.3	+	7	2422	c.2422C>T	c.(2422-2424)Ccc>Tcc	p.P808S	NLRP5_uc002qmi.3_Missense_Mutation_p.P789S	NM_153447	NP_703148	P59047	NALP5_HUMAN	Homo sapiens NLR family, pyrin domain containing 5 (NLRP5), mRNA.	808						mitochondrion|nucleolus	ATP binding	p.P808T(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		GCTGAGGCATCCCACCTGCAA	0.617000														58			19		0	0	1	0	0
ACSM4	341392	broad.mit.edu	37	12	7459141	7459141	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr12:7459141C>T	uc001qsx.1	+	1	214	c.214C>T	c.(214-216)Cca>Tca	p.P72S		NM_001080454	NP_001073923	P0C7M7	ACSM4_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 4 (ACSM4), mRNA.	72					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			endometrium(6)|kidney(1)|lung(14)	21						AGGGGAGAGACCAGCTAACCC	0.527000														9			4		0	0	1	0	0
EIF3D	8664	broad.mit.edu	37	22	36913424	36913424	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr22:36913424G>A	uc003apr.3	-	9	1079	c.914C>T	c.(913-915)tCc>tTc	p.S305F	EIF3D_uc011amr.2_Missense_Mutation_p.S132F|EIF3D_uc011amt.2_Missense_Mutation_p.S256F|EIF3D_uc011ams.2_Missense_Mutation_p.S208F	NM_003753	NP_003744	O15371	EIF3D_HUMAN	Homo sapiens eukaryotic translation initiation factor 3, subunit D (EIF3D), mRNA.	305						cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			cervix(1)|endometrium(2)|large_intestine(6)|lung(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	15						TGAATTGAAGGAATTACCTTC	0.512000														28			27		0	0	1	0	0
RNF151	146310	broad.mit.edu	37	16	2018561	2018561	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr16:2018561G>A	uc002cnt.1	+	3	381	c.373G>A	c.(373-375)Ggg>Agg	p.G125R	TCRBV20S1_uc021tak.1_Intron	NM_174903	NP_777563	Q2KHN1	RN151_HUMAN	Homo sapiens ring finger protein 151 (RNF151), mRNA.	125					cell differentiation|spermatogenesis	cytoplasm|nucleus	ubiquitin-protein ligase activity|zinc ion binding			kidney(1)|lung(1)	2						GGTGCCGCGTGGGACCCTGGC	0.711000														12			3		0	0	1	0	0
HGS	9146	broad.mit.edu	37	17	79663917	79663917	+	Missense_Mutation	SNP	A	T	T			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr17:79663917A>T	uc002kbg.3	+	17	1906	c.1771A>T	c.(1771-1773)Agc>Tgc	p.S591C		NM_004712	NP_004703	O14964	HGS_HUMAN	Homo sapiens hepatocyte growth factor-regulated tyrosine kinase substrate (HGS), mRNA.	591	Gln-rich.|Interaction with NF2.				cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of JAK-STAT cascade|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|regulation of protein catabolic process	cytosol|early endosome membrane|multivesicular body membrane	metal ion binding|protein domain specific binding			endometrium(2)|kidney(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12	all_neural(118;0.0878)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)			CAGCTTCCCCAGCACCTTCAG	0.687000														50			23		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13859564	13859564	+	Silent	SNP	G	A	A			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr5:13859564G>A	uc003jfd.2	-	29	4989	c.4947C>T	c.(4945-4947)ccC>ccT	p.P1649P		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	1649	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					ACAAAACCTTGGGCAGCTGCT	0.408000									Kartagener syndrome					61			39		0	0	1	0	0
HIST2H2BF	440689	broad.mit.edu	37	1	149398948	149398948	+	RNA	SNP	C	T	T			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr1:149398948C>T	uc010pbi.1	-	0		c.282G>A						Q5QNW6	H2B2F_HUMAN	Homo sapiens histone cluster 2, H3, pseudogene 2, mRNA (cDNA clone IMAGE:5190019).						nucleosome assembly	nucleosome|nucleus	DNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Breast(34;0.0124)|all_hematologic(923;0.127)					AGGCGGGACGCCTCTCCCGCG	0.657000														64			38		0	0	1	0	0
BACE2	25825	broad.mit.edu	37	21	42629153	42629153	+	Silent	SNP	C	T	T			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr21:42629153C>T	uc002yyw.3	+	7	1666	c.1203C>T	c.(1201-1203)tcC>tcT	p.S401S	BACE2_uc002yyx.3_Silent_p.S351S|BACE2_uc002yyy.3_Intron|BACE2_uc010goo.3_Intron	NM_012105	NP_036237	Q9Y5Z0	BACE2_HUMAN	Homo sapiens beta-site APP-cleaving enzyme 2 (BACE2), transcript variant a, mRNA.	401					membrane protein ectodomain proteolysis|negative regulation of amyloid precursor protein biosynthetic process|peptide hormone processing	Golgi apparatus|cell surface|endoplasmic reticulum|endosome|integral to membrane	aspartic-type endopeptidase activity			endometrium(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14		Prostate(19;1.57e-07)|all_epithelial(19;0.0251)				TTTCCCCATCCACAAATGCGC	0.552000														8			25		0	0	1	0	0
B3GALT5	10317	broad.mit.edu	37	21	41032753	41032753	+	Silent	SNP	G	A	A			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr21:41032753G>A	uc021wjj.1	+	0	267	c.267G>A	c.(265-267)aaG>aaA	p.K89K	B3GALT5_uc002yyb.1_Silent_p.K89K|B3GALT5_uc002yye.2_Silent_p.K89K|B3GALT5_uc002yyi.1_Silent_p.K89K|B3GALT5_uc002yyj.1_Silent_p.K89K|B3GALT5_uc002yyk.1_Silent_p.K89K|B3GALT5_uc002yyl.1_Silent_p.K89K|B3GALT5_uc002yym.1_Silent_p.K89K	NM_033173	NP_149363	Q9Y2C3	B3GT5_HUMAN	Homo sapiens UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 5 (B3GALT5), transcript variant 5, mRNA.	89					protein glycosylation	Golgi membrane|endoplasmic reticulum|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	16		Prostate(19;2.55e-06)				TGAAGGGAAAGCAGCTGAAGA	0.587000														26			19		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179485469	179485469	+	Nonsense_Mutation	SNP	T	A	A			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr2:179485469T>A	uc021vsy.1	-	195	38389	c.38164A>T	c.(38164-38166)Aaa>Taa	p.K12722*	MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Nonsense_Mutation_p.K6417*|TTN_uc021vta.1_Nonsense_Mutation_p.K6350*|TTN_uc021vtb.1_Nonsense_Mutation_p.K6225*	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	13649							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCTGCACTTTTAACATTTTCA	0.318000														146			106		0	0	1	0	0
SLC16A12	387700	broad.mit.edu	37	10	91198622	91198622	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr10:91198622G>A	uc001kgm.3	-	5	1068	c.767C>T	c.(766-768)tCa>tTa	p.S256L	SLC16A12_uc001kgl.3_5'Flank	NM_213606	NP_998771	Q6ZSM3	MOT12_HUMAN	Homo sapiens solute carrier family 16, member 12 (monocarboxylic acid transporter 12) (SLC16A12), mRNA.	226						integral to membrane|plasma membrane	symporter activity			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(4)|skin(1)|stomach(1)	14						GGTCAAAGATGAATAGGGAGA	0.443000														39			11		0	0	1	0	0
CEACAM3	1084	broad.mit.edu	37	19	42301871	42301871	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr19:42301871C>T	uc002orn.1	+	1	491	c.415C>T	c.(415-417)Cat>Tat	p.H139Y	CEACAM3_uc010eia.1_Missense_Mutation_p.H139Y|CEACAM3_uc002oro.1_Non-coding_Transcript	NM_001815	NP_001806	P40198	CEAM3_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 3 (CEACAM3), mRNA.	139	Ig-like V-type.					integral to membrane				endometrium(2)|kidney(4)|large_intestine(1)|lung(4)|prostate(3)|skin(4)|stomach(1)	19						TGGACAGTTCCATGTATACCG	0.488000														199			120		0	0	1	0	0
ZG16B	124220	broad.mit.edu	37	16	2882082	2882082	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr16:2882082G>A	uc002cru.3	+	3	625	c.549G>A	c.(547-549)tgG>tgA	p.W183*		NM_145252	NP_660295	Q96DA0	ZG16B_HUMAN	Homo sapiens zymogen granule protein 16 homolog B (rat) (ZG16B), mRNA.	183						extracellular region	sugar binding			central_nervous_system(1)|lung(2)|ovary(1)|prostate(1)	5						GCTTTGAATGGAATTATCCAC	0.557000														61			45		0	0	1	0	0
ZC3H7A	29066	broad.mit.edu	37	16	11870760	11870760	+	Silent	SNP	G	A	A			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr16:11870760G>A	uc002dbk.3	-	3	510	c.312C>T	c.(310-312)ttC>ttT	p.F104F	ZC3H7A_uc002dbl.3_Silent_p.F104F|ZC3H7A_uc002dbm.2_Silent_p.F104F	NM_014153	NP_054872	Q8IWR0	Z3H7A_HUMAN	Homo sapiens zinc finger CCCH-type containing 7A (ZC3H7A), mRNA.	104						nucleus	nucleic acid binding|zinc ion binding			breast(2)|endometrium(3)|kidney(5)|large_intestine(2)|liver(1)|lung(3)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(2)	25						CTTTATCATGGAAACCCTGGT	0.373000														25			11		0	0	1	0	0
CNGA1	1259	broad.mit.edu	37	4	47938616	47938616	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr4:47938616C>T	uc003gxu.3	-	9	2243	c.2102G>A	c.(2101-2103)gGg>gAg	p.G701E	BC041434_uc003gxr.1_Intron|CNGA1_uc003gxt.4_Missense_Mutation_p.G632E	NM_001142564	NP_000078	P29973	CNGA1_HUMAN	Homo sapiens cyclic nucleotide gated channel alpha 1 (CNGA1), transcript variant 1, mRNA.	632					response to stimulus|visual perception	integral to plasma membrane	cGMP binding|ion channel activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|urinary_tract(1)	28						GTCTACTGACCCCTCCATTCG	0.428000														116			56		0	0	1	0	0
RFPL2	10739	broad.mit.edu	37	22	32586919	32586919	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr22:32586919G>A	uc003amg.3	-	4	1913	c.977C>T	c.(976-978)tCc>tTc	p.S326F	RFPL2_uc003ame.3_Missense_Mutation_p.S265F|RFPL2_uc003amf.3_Missense_Mutation_p.S236F|RFPL2_uc003amh.3_Missense_Mutation_p.S236F	NM_001098527	NP_001153018	O75678	RFPL2_HUMAN	Homo sapiens ret finger protein-like 2 (RFPL2), transcript variant 2, mRNA.	326	B30.2/SPRY.						zinc ion binding			endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	21						ATAGACATGGGAACCACTTTC	0.483000														30			12		0	0	1	0	0
GRM3	2913	broad.mit.edu	37	7	86415762	86415762	+	Silent	SNP	C	T	T			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr7:86415762C>T	uc003uid.3	+	2	1753	c.654C>T	c.(652-654)tcC>tcT	p.S218S	GRM3_uc010lef.3_Silent_p.S216S|GRM3_uc010leg.3_Silent_p.S90S|GRM3_uc010leh.3_Intron	NM_000840	NP_000831	Q14832	GRM3_HUMAN	Homo sapiens glutamate receptor, metabotropic 3 (GRM3), mRNA.	218					synaptic transmission	integral to plasma membrane				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	CAGTAGCCTCCGAGGGTGATT	0.602000														42			25		0	0	1	0	0
ZNF347	84671	broad.mit.edu	37	19	53645802	53645802	+	Silent	SNP	A	G	G			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr19:53645802A>G	uc002qbc.2	-	4	709	c.282T>C	c.(280-282)tcT>tcC	p.S94S	ZNF347_uc002qbb.2_Silent_p.S93S|ZNF347_uc010eql.2_Silent_p.S94S	NM_001172674	NP_001166146	Q96SE7	ZN347_HUMAN	Homo sapiens zinc finger protein 347 (ZNF347), transcript variant 1, mRNA.	93					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		CAAATTCGGAAGAGAGAGCTA	0.333000														16			8		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179599632	179599632	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr2:179599632C>T	uc021vsy.1	-	47	11512	c.11287G>A	c.(11287-11289)Ggc>Agc	p.G3763S	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.G424S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	4690							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACAGGTGAGCCTTTCAGCTTG	0.418000														19			6		0	0	1	0	0
ANKRD20A9P	284232	broad.mit.edu	37	13	19432987	19432987	+	RNA	SNP	G	A	A	rs35421699		TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr13:19432987G>A	uc010tcj.1	-	0		c.13123C>T								Homo sapiens ankyrin repeat domain 20 family, member A9, pseudogene (ANKRD20A9P), non-coding RNA.																		TGCAGGCAATGAATCCACACA	0.348000														98			22		0	0	1	0	0
VPS13A	23230	broad.mit.edu	37	9	79985430	79985430	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr9:79985430C>T	uc004akr.3	+	64	9103	c.8843C>T	c.(8842-8844)gCc>gTc	p.A2948V	VPS13A_uc004akp.4_Missense_Mutation_p.A2948V|VPS13A_uc004akq.4_Missense_Mutation_p.A2948V|VPS13A_uc004aks.3_Missense_Mutation_p.A2909V	NM_033305	NP_150648	Q96RL7	VP13A_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog A (S. cerevisiae) (VPS13A), transcript variant A, mRNA.	2948					Golgi to endosome transport|protein transport	intracellular	protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						AGAAGAGAAGCCATGAATAAG	0.468000														61			32		0	0	1	0	0
HDAC9	9734	broad.mit.edu	37	7	18684372	18684372	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr7:18684372C>T	uc003sui.3	+	7	1032	c.991C>T	c.(991-993)Ccc>Tcc	p.P331S	HDAC9_uc003sue.3_Missense_Mutation_p.P328S|HDAC9_uc011jyd.2_Missense_Mutation_p.P328S|HDAC9_uc003suh.3_Missense_Mutation_p.P328S|HDAC9_uc003suj.3_Missense_Mutation_p.P287S|HDAC9_uc011jya.2_Missense_Mutation_p.P326S|HDAC9_uc003sua.1_Missense_Mutation_p.P306S|HDAC9_uc003sud.2_Missense_Mutation_p.P328S|HDAC9_uc011jyc.2_Missense_Mutation_p.P287S|HDAC9_uc011jyb.2_Missense_Mutation_p.P284S|HDAC9_uc003suf.2_Missense_Mutation_p.P359S|HDAC9_uc010kud.2_Missense_Mutation_p.P331S|HDAC9_uc011jye.2_Missense_Mutation_p.P300S|HDAC9_uc011jyf.2_Missense_Mutation_p.P251S|HDAC9_uc010kue.1_Missense_Mutation_p.P71S	NM_178425	NP_848512	Q9UKV0	HDAC9_HUMAN	Homo sapiens histone deacetylase 9 (HDAC9), transcript variant 5, mRNA.	328	Interaction with MAPK10 (By similarity).				B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	TCCTTCTTTGCCCAACATTAC	0.433000														18			13		0	0	1	0	0
SERPINB7	8710	broad.mit.edu	37	18	61449612	61449612	+	Silent	SNP	C	T	T			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr18:61449612C>T	uc002ljl.3	+	1	102	c.6C>T	c.(4-6)gcC>gcT	p.A2A	SERPINB7_uc002ljm.3_Silent_p.A2A|SERPINB7_uc010xet.2_Silent_p.A2A|SERPINB7_uc010dqg.3_Silent_p.A2A	NM_001040147	NP_003775	O75635	SPB7_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 7 (SERPINB7), transcript variant 2, mRNA.	2					regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	27		Esophageal squamous(42;0.129)				TTGCAATGGCCTCCCTTGCTG	0.378000														49			14		0	0	1	0	0
TEK	7010	broad.mit.edu	37	9	27228284	27228284	+	Missense_Mutation	SNP	G	T	T			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr9:27228284G>T	uc011lno.2	+	20	3594	c.3152G>T	c.(3151-3153)aGa>aTa	p.R1051I	TEK_uc003zqi.4_Missense_Mutation_p.R1094I|TEK_uc011lnp.2_Missense_Mutation_p.R946I	NM_000459	NP_000450	Q02763	TIE2_HUMAN	Homo sapiens TEK tyrosine kinase, endothelial (TEK), mRNA.	1094	Protein kinase.				angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)		TCCTTAAACAGAATGTTAGAG	0.398000														15			37		4.62619e-21	4.70917e-21	1	1	0
abParts	0	broad.mit.edu	37	14	106511848	106511848	+	RNA	SNP	G	C	C	rs72703009	byFrequency	TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr14:106511848G>C	uc021ser.1	-	2240		c.40073C>G								Parts of antibodies, mostly variable regions.																		GTGAGTTTTTGGTATTGTCTC	0.488000														51			5		0	0	1	0	0
COL1A2	1278	broad.mit.edu	37	7	94054434	94054434	+	Silent	SNP	A	G	G			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr7:94054434A>G	uc003ung.1	+	41	3150	c.2679A>G	c.(2677-2679)gaA>gaG	p.E893E	COL1A2_uc011kib.1_Intron	NM_000089	NP_000080	P08123	CO1A2_HUMAN	Homo sapiens collagen, type I, alpha 2 (COL1A2), mRNA.	893					Rho protein signal transduction|axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	TTTAGGGTGAACCTGGTCCTC	0.542000										HNSCC(75;0.22)				27			11		0	0	1	0	0
CPT1A	1374	broad.mit.edu	37	11	68560821	68560821	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr11:68560821C>T	uc001oog.4	-	8	1099	c.929G>A	c.(928-930)cGg>cAg	p.R310Q	CPT1A_uc001oof.4_Missense_Mutation_p.R310Q	NM_001876	NP_001867	P50416	CPT1A_HUMAN	Homo sapiens carnitine palmitoyltransferase 1A (liver) (CPT1A), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	310					carnitine shuttle|fatty acid beta-oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	Esophageal squamous(3;3.28e-14)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142)		L-Carnitine(DB00583)|Perhexiline(DB01074)	ATTAAACATCCGCTCCCACTG	0.473000														10			4		0	0	1	0	0
ST18	9705	broad.mit.edu	37	8	53071640	53071640	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr8:53071640G>A	uc003xqz.2	-	9	1780	c.1624C>T	c.(1624-1626)Cct>Tct	p.P542S	ST18_uc011ldq.1_Missense_Mutation_p.P189S|ST18_uc011ldr.1_Missense_Mutation_p.P507S|ST18_uc011lds.1_Missense_Mutation_p.P447S|ST18_uc003xra.2_Missense_Mutation_p.P542S|ST18_uc003xrb.2_Missense_Mutation_p.P542S	NM_014682	NP_055497	O60284	ST18_HUMAN	Homo sapiens suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) (ST18), mRNA.	542						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				AGTCGATTAGGAAATTTCACT	0.438000														60			120		0	0	1	0	0
KEL	3792	broad.mit.edu	37	7	142640576	142640576	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr7:142640576G>A	uc003wcb.3	-	14	1910	c.1700C>T	c.(1699-1701)cCc>cTc	p.P567L		NM_000420	NP_000411	P23276	KELL_HUMAN	Homo sapiens Kell blood group, metallo-endopeptidase (KEL), mRNA.	567					proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					CCCATACCTGGGATAGCCAGG	0.532000														22			14		0	0	1	0	0
OXR1	55074	broad.mit.edu	37	8	107763103	107763103	+	Silent	SNP	G	A	A			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr8:107763103G>A	uc011lht.2	+	15	2658	c.2559G>A	c.(2557-2559)ggG>ggA	p.G853G	OXR1_uc022azp.1_Silent_p.G852G|OXR1_uc003ymf.3_Silent_p.G825G|OXR1_uc011lhu.2_Silent_p.G818G|OXR1_uc010mcg.3_Non-coding_Transcript|OXR1_uc010mch.3_Silent_p.G481G|OXR1_uc003ymk.3_Silent_p.G222G|OXR1_uc003yml.3_Silent_p.G195G	NM_001198532	NP_001185461	Q8N573	OXR1_HUMAN	Homo sapiens oxidation resistance 1 (OXR1), transcript variant 3, mRNA.	853					cell wall macromolecule catabolic process|response to oxidative stress	mitochondrion				NS(2)|breast(2)|endometrium(2)|large_intestine(9)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31			OV - Ovarian serous cystadenocarcinoma(57;1.81e-09)			AAACGTTTGGGAATCGTACAC	0.358000														206			47		0	0	1	0	0
FNDC1	84624	broad.mit.edu	37	6	159646711	159646711	+	Missense_Mutation	SNP	T	A	A			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr6:159646711T>A	uc010kjv.3	+	7	1229	c.1029T>A	c.(1027-1029)gaT>gaA	p.D343E	FNDC1_uc010kjw.1_Missense_Mutation_p.D291E	NM_032532	NP_115921	Q4ZHG4	FNDC1_HUMAN	Homo sapiens fibronectin type III domain containing 1 (FNDC1), mRNA.	343	Fibronectin type-III 3.					extracellular region				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		GTGAAAGAGATGGCAAATGGA	0.413000														51			38		0	0	1	0	0
MEF2B	100271849	broad.mit.edu	37	19	19261526	19261526	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr19:19261526G>A	uc002nlp.2	-	3	746	c.19C>T	c.(19-21)Cag>Tag	p.Q7*	MEF2B_uc002nll.2_Nonsense_Mutation_p.Q7*|MEF2B_uc010xqo.1_Nonsense_Mutation_p.Q7*|MEF2B_uc010xqp.1_Nonsense_Mutation_p.Q7*|MEF2B_uc002nlo.2_Nonsense_Mutation_p.Q7*|MEF2B_uc002nlk.2_Nonsense_Mutation_p.Q7*	NM_005919	NP_005910			Homo sapiens MEF2BNB-MEF2B readthrough (MEF2BNB-MEF2B), transcript variant 1, mRNA.											breast(1)|haematopoietic_and_lymphoid_tissue(21)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(5;0.00011)|Epithelial(12;0.00412)			CGGGAGATCTGGATTTTTTTC	0.562000														38			28		0	0	1	0	0
STX11	8676	broad.mit.edu	37	6	144507793	144507793	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr6:144507793A>G	uc003qks.4	+	1	221	c.29A>G	c.(28-30)gAc>gGc	p.D10G	STX11_uc021zgk.1_Missense_Mutation_p.D10G	NM_003764	NP_003755	O75558	STX11_HUMAN	Homo sapiens syntaxin 11 (STX11), mRNA.	10					cellular membrane fusion|intracellular protein transport|vesicle-mediated transport	Golgi apparatus|membrane	SNAP receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	12				OV - Ovarian serous cystadenocarcinoma(155;2.17e-06)|GBM - Glioblastoma multiforme(68;0.0492)		GAACTTCTGGACTTGTCCAAG	0.473000									Familial Hemophagocytic Lymphohistiocytosis					46			20		0	0	1	0	0
GBP2	2634	broad.mit.edu	37	1	89579780	89579781	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr1:89579780_89579781CC>TT	uc001dmz.1	-	6	1338_1339	c.1067_1068GG>AA	c.(1066-1068)agg>aAA	p.R356K	GBP2_uc001dmy.1_Non-coding_Transcript	NM_004120	NP_004111	P32456	GBP2_HUMAN	Homo sapiens guanylate binding protein 2, interferon-inducible (GBP2), mRNA.	356					interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	plasma membrane	GTP binding|GTPase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(1)	20		Lung NSC(277;0.0908)		all cancers(265;0.0151)|Epithelial(280;0.0284)		TCTCACTGTCCCTGTGCAGGTC	0.515000														25			129		0	0	1	0	0
FERMT1	55612	broad.mit.edu	37	20	6091134	6091134	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr20:6091134G>A	uc002wmr.3	-	4	1346	c.557C>T	c.(556-558)aCc>aTc	p.T186I	FERMT1_uc010gbt.3_Intron|FERMT1_uc002wms.3_Missense_Mutation_p.T186I|FERMT1_uc002wmt.3_5'Flank	NM_017671	NP_060141	Q9BQL6	FERM1_HUMAN	Homo sapiens fermitin family member 1 (FERMT1), mRNA.	186	FERM.				cell adhesion|establishment of epithelial cell polarity|keratinocyte migration|keratinocyte proliferation	cytosol|focal adhesion|ruffle membrane	binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	17						AGGGGTCATGGTTTTACTGTA	0.418000														75			58		0	0	1	0	0
PKDREJ	10343	broad.mit.edu	37	22	46654698	46654698	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr22:46654698G>A	uc003bhh.3	-	0	4522	c.4522C>T	c.(4522-4524)Ctt>Ttt	p.L1508F		NM_006071	NP_006062	Q9NTG1	PKDRE_HUMAN	Homo sapiens polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin) (PKDREJ), mRNA.	1508					acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		GCCTTTGGAAGCCTGGGCTTT	0.502000														136			84		0	0	1	0	0
URM1	81605	broad.mit.edu	37	9	131151610	131151610	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr9:131151610C>T	uc011may.1	+	3	321	c.259C>T	c.(259-261)Cct>Tct	p.P87S	URM1_uc004buv.2_Intron	NM_001135947	NP_001129419	Q9BTM9	URM1_HUMAN	Homo sapiens ubiquitin related modifier 1 (URM1), transcript variant 2, mRNA.	0					tRNA thio-modification|tRNA wobble uridine modification		protein binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)	5						GGGGGACATCCCTCCCCCAGC	0.602000														39			19		0	0	1	0	0
ASXL3	80816	broad.mit.edu	37	18	31325494	31325494	+	Silent	SNP	C	G	G			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr18:31325494C>G	uc010dmg.1	+	11	5737	c.5682C>G	c.(5680-5682)gtC>gtG	p.V1894V	ASXL3_uc002kxq.2_Silent_p.V1601V	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	Homo sapiens additional sex combs like 3 (Drosophila) (ASXL3), mRNA.	1894					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding	p.V1894V(1)		breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						GCCCTGAGGTCAAACAGCAAA	0.507000														90			72		0	0	1	0	0
GRIK4	2900	broad.mit.edu	37	11	120852895	120852895	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr11:120852895G>A	uc001pxn.2	+	19	2763	c.2476G>A	c.(2476-2478)Gag>Aag	p.E826K	GRIK4_uc009zaw.1_Missense_Mutation_p.E826K|GRIK4_uc009zax.1_Missense_Mutation_p.E826K	NM_014619	NP_055434	Q16099	GRIK4_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 4 (GRIK4), mRNA.	826					glutamate signaling pathway|synaptic transmission	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)	L-Glutamic Acid(DB00142)	GGCTATGTTGGAGTTTTTATG	0.423000														44			78		0	0	1	0	0
MYOCD	93649	broad.mit.edu	37	17	12661435	12661435	+	Missense_Mutation	SNP	C	A	A			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr17:12661435C>A	uc002gno.2	+	11	2535	c.2236C>A	c.(2236-2238)Cca>Aca	p.P746T	MYOCD_uc002gnn.2_Missense_Mutation_p.P698T|MYOCD_uc002gnp.1_Missense_Mutation_p.P650T|MYOCD_uc002gnq.2_Intron	NM_001146312	NP_001139784	Q8IZQ8	MYCD_HUMAN	Homo sapiens myocardin (MYOCD), transcript variant 1, mRNA.	698					cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	RNA polymerase II transcription factor binding transcription factor activity|nucleic acid binding|transcription factor binding	p.E746*(1)		breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		TAAGGTGGGGCCAAAGTTTTC	0.398000														61			32		2.08457e-15	2.1031e-15	1	1	0
IFNA22P	3453	broad.mit.edu	37	9	21278463	21278463	+	RNA	SNP	A	G	G	rs10120675	by1000genomes	TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr9:21278463A>G	uc003zou.1	-	0		c.100T>C								Homo sapiens interferon, alpha 22, pseudogene (IFNA22P), non-coding RNA.																		CTGTCCTTCAAGTAAGAAAAA	0.478000														16			2		0	0	1	0	0
MIR223	407008	broad.mit.edu	37	X	65238757	65238757	+	RNA	SNP	T	C	C			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chrX:65238757T>C	uc022byg.1	+	0		c.46T>C			MIR223_uc004dwg.1_Non-coding_Transcript|MIR223_uc011mox.1_Non-coding_Transcript					Homo sapiens microRNA 223 (MIR223), microRNA.																		ACAAGCTGAGTTGGACACTCC	0.542000														1			8		0	0	1	0	0
DBC1	1620	broad.mit.edu	37	9	121929935	121929935	+	Missense_Mutation	SNP	A	T	T			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr9:121929935A>T	uc004bkc.2	-	7	2169	c.1713T>A	c.(1711-1713)caT>caA	p.H571Q		NM_014618	NP_055433	O60477	DBC1_HUMAN	Homo sapiens deleted in bladder cancer 1 (DBC1), mRNA.	571					cell cycle arrest|cell death	cytoplasm	protein binding	p.H571Y(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						AGCCCTCCGAATGGCTCCCGC	0.557000														39			27		0	0	1	0	0
PREX1	57580	broad.mit.edu	37	20	47246052	47246052	+	Silent	SNP	G	A	A			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr20:47246052G>A	uc002xtw.1	-	36	4724	c.4701C>T	c.(4699-4701)atC>atT	p.I1567I	PREX1_uc021wer.1_5'Flank|PREX1_uc002xtv.1_Silent_p.I864I	NM_020820	NP_065871	Q8TCU6	PREX1_HUMAN	Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1 (PREX1), mRNA.	1567					actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|enzyme binding|phospholipid binding			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			GCTCCGAGGAGATGGGGATGA	0.652000														48			34		0	0	1	0	0
CLEC10A	10462	broad.mit.edu	37	17	6978703	6978704	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr17:6978703_6978704CC>TT	uc002gek.3	-	7	1060_1061	c.757_758GG>AA	c.(757-759)gga>AAa	p.G253K	CLEC10A_uc002gej.3_Missense_Mutation_p.G229K|CLEC10A_uc010clv.2_3'UTR	NM_182906	NP_878910	Q8IUN9	CLC10_HUMAN	Homo sapiens C-type lectin domain family 10, member A (CLEC10A), transcript variant 1, mRNA.	253	C-type lectin.				endocytosis|innate immune response	integral to membrane|plasma membrane	sugar binding	p.D252N(1)		central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	10						ATAGTCTGTTCCATCCACCCAC	0.569000														45			20		0	0	1	0	0
PEG3	5178	broad.mit.edu	37	19	57327581	57327581	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr19:57327581A>C	uc002qnu.2	-	6	2580	c.2229T>G	c.(2227-2229)agT>agG	p.S743R	PEG3_uc010ygr.1_Intron|PEG3_uc010ygq.1_Intron|PEG3_uc002qnr.2_Intron|PEG3_uc010etp.2_Intron|PEG3_uc010ygs.1_Intron|PEG3_uc002qnq.2_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.S714R|PEG3_uc002qnv.2_Missense_Mutation_p.S743R|PEG3_uc002qnw.2_Missense_Mutation_p.S619R|PEG3_uc002qnx.2_Missense_Mutation_p.S617R|PEG3_uc010etr.2_Missense_Mutation_p.S743R	NM_001146186	NP_001139657	Q9GZU2	PEG3_HUMAN	Homo sapiens paternally expressed 3 (PEG3), transcript variant 4, mRNA.	743					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		CGTCCTCATCACTTTCAAGAG	0.413000														128			66		0	0	1	0	0
APOBR	55911	broad.mit.edu	37	16	28509498	28509498	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr16:28509498C>T	uc002dqb.2	+	2	3085	c.3052C>T	c.(3052-3054)Cgt>Tgt	p.R1018C	NPIPL1_uc010vct.2_Intron|APOBR_uc010byg.2_Missense_Mutation_p.R547C	NM_018690	NP_061160	Q0VD83	APOBR_HUMAN	Homo sapiens apolipoprotein B receptor (APOBR), mRNA.	1009					cholesterol metabolic process|lipid transport	chylomicron|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|skin(2)|stomach(1)	29						GCCCTCTTTTCGTCGGACTCC	0.682000														8			7		0	0	1	0	0
KIR2DL2	3803	broad.mit.edu	37	GL000209.1	112338	112338	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chrGL000209.1:112338G>A	uc002qtt.2	+	6	900	c.871G>A	c.(871-873)Gag>Aag	p.E291K	KIR2DL2_uc021vdc.1_5'Flank|KIR2DL2_uc021vdd.1_5'Flank|KIR2DL2_uc002qty.3_Intron|KIR2DL2_uc021vdb.1_Missense_Mutation_p.E291K|KIR2DL2_uc010yie.2_Intron|KIR2DL2_uc002qul.2_Missense_Mutation_p.E291K|KIR2DL2_uc002qum.3_5'Flank	NM_012313	NP_036445	P43627	KI2L2_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 3 (KIR2DS3), mRNA.	290					regulation of immune response	integral to membrane|plasma membrane	receptor activity										AGTGAACAGGGAGGTAGGTGC	0.542000														67			40		0	0	1	0	0
TECPR1	25851	broad.mit.edu	37	7	97854188	97854188	+	Missense_Mutation	SNP	G	C	C			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr7:97854188G>C	uc003upg.3	-	18	2820	c.2615C>G	c.(2614-2616)tCc>tGc	p.S872C		NM_015395	NP_056210	Q7Z6L1	TCPR1_HUMAN	Homo sapiens tectonin beta-propeller repeat containing 1 (TECPR1), mRNA.	872						integral to membrane	protein binding			central_nervous_system(2)|endometrium(8)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						GAACCAGTCGGAAACCTGGGA	0.642000														0			2		0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	89971991	89971991	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr5:89971991C>T	uc003kju.3	+	24	5504	c.5408C>T	c.(5407-5409)tCt>tTt	p.S1803F	GPR98_uc003kjt.3_5'UTR|GPR98_uc010jba.2_Non-coding_Transcript	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	1803	Calx-beta 12.				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding	p.S1803S(1)		NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		CTGGAAAAATCTTTTAAAGTT	0.328000														5			9		0	0	1	0	0
LRRTM3	347731	broad.mit.edu	37	10	68687068	68687068	+	Missense_Mutation	SNP	G	C	C			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr10:68687068G>C	uc001jmz.1	+	1	944	c.394G>C	c.(394-396)Gtg>Ctg	p.V132L	CTNNA3_uc009xpn.1_Intron|CTNNA3_uc001jmw.2_Intron|CTNNA3_uc001jmx.4_Intron|CTNNA3_uc009xpo.1_Intron|LRRTM3_uc001jmy.3_Missense_Mutation_p.V132L	NM_178011	NP_821079	Q86VH5	LRRT3_HUMAN	Homo sapiens leucine rich repeat transmembrane neuronal 3 (LRRTM3), mRNA.	132						integral to membrane				breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	41						CTTCAGACCTGTGACAAATTT	0.398000														106			44		0	0	1	0	0
NPHP3	27031	broad.mit.edu	37	3	132361569	132361569	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr3:132361569A>C	uc003eov.4	-	2	707	c.327T>G	c.(325-327)agT>agG	p.S109R		NM_032169	NP_115545	Q7Z494	NPHP3_HUMAN	Homo sapiens acyl-CoA dehydrogenase family, member 11 (ACAD11), mRNA.	529					Wnt receptor signaling pathway|maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway	cilium	protein binding			NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CAGAAGTATCACTGCAGTACA	0.323000														107			75		0	0	1	0	0
ROGDI	79641	broad.mit.edu	37	16	4851318	4851318	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr16:4851318C>T	uc002cxv.3	-	3	307	c.205G>A	c.(205-207)Gac>Aac	p.D69N	ROGDI_uc002cxu.3_5'UTR|ROGDI_uc002cxw.3_Intron	NM_024589	NP_078865	Q9GZN7	ROGDI_HUMAN	Homo sapiens rogdi homolog (Drosophila) (ROGDI), mRNA.	69						intracellular		p.D69D(1)		endometrium(2)|lung(1)|ovary(1)|skin(1)	5						TTCACCTGGTCTGTGCTGTAA	0.677000														14			10		0	0	1	0	0
COL17A1	1308	broad.mit.edu	37	10	105811271	105811271	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr10:105811271G>A	uc001kxr.3	-	24	2175	c.2006C>T	c.(2005-2007)tCc>tTc	p.S669F		NM_000494	NP_000485	Q9UMD9	COHA1_HUMAN	Homo sapiens collagen, type XVII, alpha 1 (COL17A1), mRNA.	669	Triple-helical region.				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		AGAGCCGCTGGAACCTGAGAA	0.567000														16			6		0	0	1	0	0
APP	351	broad.mit.edu	37	21	27354788	27354788	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr21:27354788G>A	uc002ylz.3	-	8	1293	c.1093C>T	c.(1093-1095)Cct>Tct	p.P365S	APP_uc010glk.3_Missense_Mutation_p.P341S|APP_uc002yma.3_Missense_Mutation_p.P346S|APP_uc011ach.2_Missense_Mutation_p.P309S|APP_uc021whz.1_Missense_Mutation_p.P365S|APP_uc021wia.1_Missense_Mutation_p.P346S|APP_uc002ymb.3_Missense_Mutation_p.P290S|APP_uc010glj.3_Missense_Mutation_p.P234S|APP_uc021wib.1_Missense_Mutation_p.P290S|APP_uc011aci.2_Missense_Mutation_p.P255S	NM_000484	NP_000475	P05067	A4_HUMAN	Homo sapiens amyloid beta (A4) precursor protein (APP), transcript variant 1, mRNA.	365					G2 phase of mitotic cell cycle|Notch signaling pathway|adult locomotory behavior|axon cargo transport|axon midline choice point recognition|cell adhesion|cellular copper ion homeostasis|collateral sprouting in absence of injury|dendrite development|endocytosis|extracellular matrix organization|innate immune response|ionotropic glutamate receptor signaling pathway|mRNA polyadenylation|mating behavior|neuron apoptosis|neuron remodeling|platelet activation|platelet degranulation|positive regulation of mitotic cell cycle|protein phosphorylation|regulation of epidermal growth factor receptor activity|regulation of multicellular organism growth|regulation of synapse structure and activity|regulation of translation|visual learning	Golgi apparatus|axon|cell surface|coated pit|dendritic shaft|dendritic spine|extracellular region|integral to plasma membrane|platelet alpha granule lumen	DNA binding|PTB domain binding|acetylcholine receptor binding|heparin binding|identical protein binding|metal ion binding|protein binding|serine-type endopeptidase inhibitor activity			endometrium(5)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(209;0.00295)				GCTGTTGTAGGAACTATAAAG	0.418000														33			14		0	0	1	0	0
HSPA1L	3305	broad.mit.edu	37	6	31779455	31779455	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr6:31779455C>T	uc003nxh.3	-	1	478	c.295G>A	c.(295-297)Gaa>Aaa	p.E99K	HSPA1L_uc010jte.3_Missense_Mutation_p.E99K|HSPA1L_uc021yuz.1_Missense_Mutation_p.E99K	NM_005527	NP_005518	P34931	HS71L_HUMAN	Homo sapiens heat shock 70kDa protein 1-like (HSPA1L), mRNA.	99					response to unfolded protein		ATP binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|pleura(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						TTGCCTCCTTCATTAATCACT	0.413000														84			45		0	0	1	0	0
BAI3	577	broad.mit.edu	37	6	70082311	70082311	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr6:70082311G>A	uc010kak.3	+	28	4529	c.4253G>A	c.(4252-4254)cGa>cAa	p.R1418Q	BAI3_uc003pev.4_Missense_Mutation_p.R1418Q|BAI3_uc011dxx.2_Missense_Mutation_p.R624Q	NM_001704	NP_001695	O60242	BAI3_HUMAN	Homo sapiens brain-specific angiogenesis inhibitor 3 (BAI3), mRNA.	1418					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				AGAAAATCACGATATTCAGAC	0.219000														9			10		0	0	1	0	0
LHX9	56956	broad.mit.edu	37	1	197890739	197890739	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr1:197890739G>A	uc001guk.1	+	2	1120	c.683G>A	c.(682-684)cGg>cAg	p.R228Q	LHX9_uc001gui.1_Missense_Mutation_p.R219Q	NM_020204	NP_064589	Q9NQ69	LHX9_HUMAN	Homo sapiens LIM homeobox 9 (LHX9), transcript variant 1, mRNA.	228					motor axon guidance|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			endometrium(8)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|skin(1)|stomach(1)	35						GGGCGGCCCCGGAAGCGGAAG	0.657000														26			12		0	0	1	0	0
AL117485	0	broad.mit.edu	37	22	18844885	18844885	+	RNA	SNP	G	A	A			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr22:18844885G>A	uc002zoe.3	+	3		c.2139G>A			AL117485_uc002zof.3_5'Flank					Homo sapiens cDNA FLJ76361 complete cds.																		GCAGCTCACGGAAATACAGCT	0.587000														26			3		0	0	1	0	0
SWT1	54823	broad.mit.edu	37	1	185153946	185153946	+	Silent	SNP	C	T	T			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr1:185153946C>T	uc001grg.4	+	8	1426	c.1312C>T	c.(1312-1314)Cta>Tta	p.L438L	SWT1_uc001grh.4_Silent_p.L438L	NM_001105518	NP_060143	Q5T5J6	SWT1_HUMAN	Homo sapiens SWT1 RNA endoribonuclease homolog (S. cerevisiae) (SWT1), transcript variant 2, mRNA.	438	PINc.							p.L438L(1)		breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(16)|ovary(1)|prostate(1)|urinary_tract(1)	41						GGAAGGAAAACTACTAAAACG	0.358000														102			66		0	0	1	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43826584	43826584	+	Silent	SNP	T	G	G			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr12:43826584T>G	uc010skx.2	-	19	2751	c.2751A>C	c.(2749-2751)tcA>tcC	p.S917S	ADAMTS20_uc001rno.1_Silent_p.S71S|ADAMTS20_uc001rnp.1_Silent_p.S71S	NM_025003	NP_079279	P59510	ATS20_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 20 (ADAMTS20), mRNA.	917	TSP type-1 3.					proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		CACATTGGGATGAACATTCAC	0.368000														86			44		0	0	1	0	0
MAGEA5	4104	broad.mit.edu	37	X	151283718	151283718	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chrX:151283718G>A	uc004ffj.3	-	2	467	c.295C>T	c.(295-297)Cct>Tct	p.P99S	MAGEA5_uc022cgy.1_Missense_Mutation_p.P99S	NM_021049	NP_066387	P43359	MAGA5_HUMAN	Homo sapiens melanoma antigen family A, 5 (MAGEA5), mRNA.	99	MAGE.									endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6	Acute lymphoblastic leukemia(192;6.56e-05)					TCTGGGTCAGGGGAGGTGCTT	0.532000														14			47		0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	38987102	38987102	+	Silent	SNP	C	T	T	rs143102497		TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr19:38987102C>T	uc002oit.3	+	40	6847	c.6717C>T	c.(6715-6717)ttC>ttT	p.F2239F	RYR1_uc002oiu.3_Silent_p.F2239F|RYR1_uc002oiv.1_5'UTR	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	2239	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	TCTGCTATTTCTGCCGAATCA	0.632000														33			32		0	0	1	0	0
DDX60L	91351	broad.mit.edu	37	4	169327845	169327845	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr4:169327845C>T	uc021xuh.1	-	21	3102	c.2992G>A	c.(2992-2994)Gga>Aga	p.G998R	DDX60L_uc003irq.4_Missense_Mutation_p.G998R|DDX60L_uc003irr.1_Missense_Mutation_p.G998R|DDX60L_uc003irs.1_Missense_Mutation_p.G693R	NM_001012967	NP_001012985	Q5H9U9	DDX6L_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like (DDX60L), mRNA.	998							ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		GGTGGGAATCCATACTTTTCA	0.363000														11			10		0	0	1	0	0
HSP90AB3P	3327	broad.mit.edu	37	4	88814571	88814571	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr4:88814571G>A	uc010iko.1	+	3	1198	c.1198G>A	c.(1198-1200)Gag>Aag	p.E400K						Homo sapiens heat shock protein 90kDa alpha (cytosolic), class B member 3, pseudogene (HSP90AB3P), non-coding RNA.																		GCAGCTCAAGGAGTTTGATGG	0.507000														25			11		0	0	1	0	0
MN1	4330	broad.mit.edu	37	22	28193562	28193562	+	Silent	SNP	G	A	A			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr22:28193562G>A	uc003adj.3	-	0	3925	c.2970C>T	c.(2968-2970)tcC>tcT	p.S990S		NM_002430	NP_002421	Q10571	MN1_HUMAN	Homo sapiens meningioma (disrupted in balanced translocation) 1 (MN1), mRNA.	990							binding			NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						TCTCGCCTGCGGAGCTTCCCC	0.711000			T	ETV6	"""AML, meningioma"""									19			5		0	0	1	0	0
PAX6	5080	broad.mit.edu	37	11	31812346	31812346	+	Silent	SNP	A	G	G			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr11:31812346A>G	uc009yjr.3	-	11	1564	c.1095T>C	c.(1093-1095)aaT>aaC	p.N365N	PAX6_uc001mtd.4_Silent_p.N365N|PAX6_uc001mte.4_Silent_p.N365N|PAX6_uc001mtg.4_Silent_p.N379N|PAX6_uc001mtf.4_Silent_p.N365N|PAX6_uc001mth.4_Silent_p.N365N|PAX6_uc021qfl.1_Silent_p.N379N|PAX6_uc021qfm.1_Silent_p.N379N	NM_001127612	NP_001121084	P26367	PAX6_HUMAN	Homo sapiens paired box 6 (PAX6), transcript variant 3, mRNA.	365	Pro/Ser/Thr-rich.				blood vessel development|central nervous system development|cornea development in camera-type eye|glucose homeostasis|iris morphogenesis|negative regulation of neurogenesis|neuron fate commitment|pancreatic A cell development|positive regulation of transcription, DNA-dependent|response to wounding|visual perception	cytoplasm|nuclear chromatin	R-SMAD binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|ubiquitin-protein ligase activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)	35	Lung SC(675;0.225)					AACTCCGCCCATTCACCGAAG	0.582000									Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation					6			17		0	0	1	0	0
NRK	203447	broad.mit.edu	37	X	105153090	105153090	+	Missense_Mutation	SNP	G	T	T			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chrX:105153090G>T	uc004emd.3	+	12	1760	c.1457G>T	c.(1456-1458)aGg>aTg	p.R486M	NRK_uc010npc.1_Missense_Mutation_p.R154M	NM_198465	NP_940867	Q7Z2Y5	NRK_HUMAN	Homo sapiens Nik related kinase (NRK), mRNA.	486	Gln-rich.						ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						GCACAGGTTAGGGCACCTAGG	0.537000										HNSCC(51;0.14)				10			9		0.00448238	0.00450221	1	1	0
CLCN2	1181	broad.mit.edu	37	3	184069861	184069861	+	Silent	SNP	G	A	A			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr3:184069861G>A	uc003foi.3	-	21	2479	c.2355C>T	c.(2353-2355)ttC>ttT	p.F785F	CLCN2_uc003foh.3_Intron|CLCN2_uc010hya.2_Silent_p.F768F|CLCN2_uc011brl.2_Silent_p.F785F|CLCN2_uc011brm.2_Silent_p.F741F	NM_004366	NP_004357	P51788	CLCN2_HUMAN	Homo sapiens chloride channel 2 (CLCN2), transcript variant 1, mRNA.	785						chloride channel complex	voltage-gated chloride channel activity			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Lubiprostone(DB01046)	TGCAGTCACTGAAGTTGACAG	0.557000														90			59		0	0	1	0	0
PTCH2	8643	broad.mit.edu	37	1	45292330	45292330	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr1:45292330C>T	uc010olf.2	-	17	2818	c.2806G>A	c.(2806-2808)Gag>Aag	p.E936K	PTCH2_uc021omv.1_Missense_Mutation_p.E936K|PTCH2_uc010olg.2_Missense_Mutation_p.E634K	NM_003738	NP_003729	Q9Y6C5	PTC2_HUMAN	Homo sapiens patched 2 (PTCH2), transcript variant 1, mRNA.	936					protein complex assembly|spermatogenesis	integral to plasma membrane	hedgehog receptor activity			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50	Acute lymphoblastic leukemia(166;0.155)					TGGCCGGCCTCTGCGCATGCT	0.672000									Basal Cell Nevus syndrome					3			12		0	0	1	0	0
SLC24A3	57419	broad.mit.edu	37	20	19566150	19566150	+	Silent	SNP	C	T	T			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr20:19566150C>T	uc002wrl.3	+	5	771	c.574C>T	c.(574-576)Ctg>Ttg	p.L192L		NM_020689	NP_065740	Q9HC58	NCKX3_HUMAN	Homo sapiens solute carrier family 24 (sodium/potassium/calcium exchanger), member 3 (SLC24A3), mRNA.	192						integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						ATTCAACATCCTGTGCATCAT	0.537000														77			55		0	0	1	0	0
CAPN13	92291	broad.mit.edu	37	2	31010032	31010032	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr2:31010032C>T	uc021vfn.1	-	0	192	c.160G>A	c.(160-162)Gaa>Aaa	p.E54K	CAPN13_uc021vfm.1_Missense_Mutation_p.E54K|CAPN13_uc002rnp.1_Missense_Mutation_p.E54K	NM_144575	NP_653176	Q6MZZ7	CAN13_HUMAN	Homo sapiens calpain 13 (CAPN13), mRNA.	54	Calpain catalytic.				proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)					AGGCGTTTTTCCTGGAGCAGC	0.577000														8			3		0	0	1	0	0
PLIN5	440503	broad.mit.edu	37	19	4523719	4523719	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr19:4523719G>A	uc002mas.3	-	7	1266	c.1213C>T	c.(1213-1215)Ccc>Tcc	p.P405S		NM_001013706	NP_001013728	Q00G26	PLIN5_HUMAN	Homo sapiens perilipin 5 (PLIN5), mRNA.	405						lipid particle				endometrium(4)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	10						GCCCAGCGGGGGTCAGGGCCC	0.716000														60			55		0	0	1	0	0
KIAA1244	57221	broad.mit.edu	37	6	138584591	138584591	+	Silent	SNP	C	T	T			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr6:138584591C>T	uc003qhu.3	+	11	2142	c.1971C>T	c.(1969-1971)gcC>gcT	p.A657A		NM_020340	NP_065073	Q5TH69	BIG3_HUMAN	Homo sapiens KIAA1244 (KIAA1244), mRNA.	657	SEC7.				regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		GAACTGCCGCCCTGTCTCTAA	0.607000														40			33		0	0	1	0	0
ACTR3BP2	440888	broad.mit.edu	37	2	92129528	92129528	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr2:92129528G>A	uc010yuc.2	+	0	370	c.319G>A	c.(319-321)Gat>Aat	p.D107N						Homo sapiens ARP3 actin-related protein 3 homolog B (yeast) pseudogene 2 (ACTR3BP2), non-coding RNA.																		CATTTGCCCTGATATAGTCAA	0.408000														2			3		0	0	1	0	0
NDNF	79625	broad.mit.edu	37	4	121958083	121958083	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr4:121958083C>T	uc003idq.1	-	3	1570	c.1043G>A	c.(1042-1044)gGg>gAg	p.G348E		NM_024574	NP_078850	Q8TB73	CD031_HUMAN	Homo sapiens neuron-derived neurotrophic factor (NDNF), mRNA.	348										breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(3)|skin(1)|urinary_tract(1)	29						TGTTATCTTCCCATCTTTTAG	0.423000														76			42		0	0	1	0	0
ASPHD1	253982	broad.mit.edu	37	16	29912928	29912928	+	Silent	SNP	C	T	T			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr16:29912928C>T	uc002dut.3	+	0	782	c.636C>T	c.(634-636)ctC>ctT	p.L212L	BOLA2_uc010bzb.1_Intron|SEZ6L2_uc002dup.4_5'Flank|SEZ6L2_uc010vec.2_5'Flank|SEZ6L2_uc002dur.4_5'Flank|SEZ6L2_uc002duq.4_5'Flank|SEZ6L2_uc010ved.2_5'Flank|SEZ6L2_uc002dus.4_5'Flank|ASPHD1_uc002duu.3_Non-coding_Transcript|ASPHD1_uc010bzi.2_Non-coding_Transcript	NM_181718	NP_859069	Q5U4P2	ASPH1_HUMAN	Homo sapiens aspartate beta-hydroxylase domain containing 1 (ASPHD1), mRNA.	212					peptidyl-amino acid modification	integral to endoplasmic reticulum membrane	oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity			endometrium(4)|large_intestine(2)|lung(1)|prostate(1)	8						ACGTGGAGCTCCTGGAGAGCA	0.662000														44			26		0	0	1	0	0
LRRC66	339977	broad.mit.edu	37	4	52862127	52862127	+	Missense_Mutation	SNP	C	G	G			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr4:52862127C>G	uc003gzi.3	-	3	1068	c.1061G>C	c.(1060-1062)aGg>aCg	p.R354T		NM_001024611	NP_001019782	Q68CR7	LRC66_HUMAN	Homo sapiens leucine rich repeat containing 66 (LRRC66), mRNA.	354						integral to membrane				central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						TCTAACACTCCTTGGCAGCCG	0.602000														13			12		0	0	1	0	0
TDRD1	56165	broad.mit.edu	37	10	115971716	115971716	+	Silent	SNP	C	T	T			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr10:115971716C>T	uc001lbg.1	+	13	1905	c.1752C>T	c.(1750-1752)atC>atT	p.I584I	TDRD1_uc001lbf.3_Intron|TDRD1_uc001lbh.1_Silent_p.I575I|TDRD1_uc001lbi.1_Silent_p.I575I|TDRD1_uc010qsc.2_Intron|TDRD1_uc001lbj.3_Silent_p.I293I	NM_198795	NP_942090	Q9BXT4	TDRD1_HUMAN	Homo sapiens tudor domain containing 1 (TDRD1), mRNA.	584	Tudor 2.				DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	nucleic acid binding|protein binding|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		ACTTTGAAATCCTTAGTTTGA	0.393000														77			24		0	0	1	0	0
NRAS	4893	broad.mit.edu	37	1	115256529	115256529	+	Missense_Mutation	SNP	T	C	C	rs11554290		TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr1:115256529T>C	uc009wgu.3	-	2	436	c.182A>G	c.(181-183)cAa>cGa	p.Q61R		NM_002524	NP_002515	P01111	RASN_HUMAN	Homo sapiens neuroblastoma RAS viral (v-ras) oncogene homolog (NRAS), mRNA.	61			Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).		Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway	Golgi membrane|plasma membrane	GTP binding|GTPase activity	p.Q61R(1713)|p.Q61K(635)|p.Q61L(370)|p.Q61H(123)|p.Q61P(46)|p.Q61E(9)|p.G60E(6)|p.Q61?(5)|p.Q61Q(3)|p.G60R(1)|p.G60>?(1)|p.Q61*(1)|p.Q61_E62>HK(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTACTCTTCTTGTCCAGCTGT	0.458000	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50	Mis		"""melanoma, MM, AML, thyroid"""				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)				49			181		0	0	1	0	0
NIPAL1	152519	broad.mit.edu	37	4	48018892	48018892	+	Silent	SNP	C	T	T			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr4:48018892C>T	uc003gxw.3	+	0	102	c.36C>T	c.(34-36)ccC>ccT	p.P12P	CNGA1_uc003gxv.1_5'Flank	NM_207330	NP_997213	Q6NVV3	NIPA3_HUMAN	Homo sapiens NIPA-like domain containing 1 (NIPAL1), mRNA.	12						integral to membrane				endometrium(2)|large_intestine(1)|lung(3)|skin(2)	8						CCGGAGAGCCCTGCCGAGAAG	0.706000														4			2		0	0	1	0	0
FCRL5	83416	broad.mit.edu	37	1	157516924	157516924	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr1:157516924C>T	uc009wsm.3	-	2	274	c.116G>A	c.(115-117)aGa>aAa	p.R39K	FCRL5_uc001fqu.3_Missense_Mutation_p.R39K|FCRL5_uc010phv.1_Missense_Mutation_p.R39K|FCRL5_uc010phw.1_Intron|FCRL5_uc001fqv.1_Missense_Mutation_p.R39K|FCRL5_uc010phx.2_5'UTR	NM_001195388	NP_001182317	Q96RD9	FCRL5_HUMAN	Homo sapiens Fc receptor-like 5 (FCRL5), transcript variant 2, mRNA.	39	Ig-like C2-type 1.					integral to membrane|plasma membrane	receptor activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				GAGGGTCACTCTCTCTCCTTG	0.493000														115			78		0	0	1	0	0
ZC3H13	23091	broad.mit.edu	37	13	46619172	46619172	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr13:46619172C>T	uc010tfw.1	-	1	151	c.145G>A	c.(145-147)Ggc>Agc	p.G49S	ZC3H13_uc001vas.1_Missense_Mutation_p.G49S|ZC3H13_uc001vat.1_Missense_Mutation_p.G49S	NM_015070	NP_055885	Q5T200	ZC3HD_HUMAN	Homo sapiens zinc finger CCCH-type containing 13 (ZC3H13), mRNA.	49							nucleic acid binding|zinc ion binding			cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		AGGCAGTTGCCAGTCTTCAGC	0.378000														45			63		0	0	1	0	0
SIGLEC5	8778	broad.mit.edu	37	19	52130921	52130921	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr19:52130921G>A	uc002pxe.3	-	5	1215	c.1076C>T	c.(1075-1077)cCg>cTg	p.P359L		NM_003830	NP_003821	O15389	SIGL5_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 5 (SIGLEC5), mRNA.	359					cell adhesion	integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(9)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		all_neural(266;0.0726)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218)		GGAGGGGGCCGGCCGGGCTCG	0.677000														9			4		0	0	1	0	0
WDR43	23160	broad.mit.edu	37	2	29152564	29152564	+	Silent	SNP	T	C	C			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr2:29152564T>C	uc002rmo.2	+	10	1457	c.1425T>C	c.(1423-1425)ttT>ttC	p.F475F	Y_RNA_uc021vfi.1_5'Flank	NM_015131	NP_055946	Q15061	WDR43_HUMAN	Homo sapiens WD repeat domain 43 (WDR43), mRNA.	475						nucleolus				breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	20	Acute lymphoblastic leukemia(172;0.155)					GTAACGATTTTGAAATGCTAA	0.348000														45			19		0	0	1	0	0
RAG1	5896	broad.mit.edu	37	11	36597001	36597001	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr11:36597001G>A	uc021qgb.1	+	0	2147	c.2147G>A	c.(2146-2148)cGg>cAg	p.R716Q	RAG1_uc001mwt.3_Non-coding_Transcript|RAG1_uc001mwu.4_Missense_Mutation_p.R716Q	NM_000448	NP_000439	P15918	RAG1_HUMAN	Homo sapiens recombination activating gene 1 (RAG1), mRNA.	716					T cell differentiation in thymus|V(D)J recombination|histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding	p.V715L(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				AAACTTGTGCGGGAAGTGGAA	0.493000									Familial Hemophagocytic Lymphohistiocytosis					18			34		0	0	1	0	0
HSD17B7	51478	broad.mit.edu	37	1	162773287	162773287	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr1:162773287C>T	uc001gci.3	+	5	804	c.709C>T	c.(709-711)Ccg>Tcg	p.P237S	HSD17B7_uc009wuv.3_Non-coding_Transcript	NM_016371	NP_057455	P56937	DHB7_HUMAN	Homo sapiens hydroxysteroid (17-beta) dehydrogenase 7 (HSD17B7), mRNA.	237					cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	3-keto sterol reductase activity|estradiol 17-beta-dehydrogenase activity			endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	9	all_hematologic(112;0.115)				NADH(DB00157)	AATTCTGCCTCCGTTTATATG	0.398000														77			64		0	0	1	0	0
OCIAD2	132299	broad.mit.edu	37	4	48887541	48887541	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr4:48887541C>T	uc003gyt.3	-	6	628	c.425G>A	c.(424-426)gGa>gAa	p.G142E	OCIAD2_uc003gyu.3_3'UTR	NM_001014446	NP_001014446	Q56VL3	OCAD2_HUMAN	Homo sapiens OCIA domain containing 2 (OCIAD2), transcript variant 1, mRNA.	142						endosome				kidney(1)|lung(3)|skin(1)|urinary_tract(1)	6						CTCACTTAATCCATGCTTTAT	0.398000														126			73		0	0	1	0	0
ITIH5	80760	broad.mit.edu	37	10	7608153	7608153	+	Silent	SNP	G	A	A			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr10:7608153G>A	uc021pmv.1	-	12	2473	c.2367C>T	c.(2365-2367)tcC>tcT	p.S789S	ITIH5_uc021pmu.1_Silent_p.S575S	NM_030569	NP_085046	Q86UX2	ITIH5_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain family, member 5 (ITIH5), transcript variant 1, mRNA.	789					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						TGGCAGACACGGACACCTCCA	0.602000														15			3		0	0	1	0	0
RFX4	5992	broad.mit.edu	37	12	107113766	107113766	+	Silent	SNP	G	A	A			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr12:107113766G>A	uc001tlt.3	+	11	1334	c.1194G>A	c.(1192-1194)gaG>gaA	p.E398E	LOC100287944_uc021rdg.1_Intron|RFX4_uc001tlr.3_Silent_p.E389E|RFX4_uc001tls.3_Silent_p.E398E|RFX4_uc001tlv.3_Silent_p.E295E	NM_001206691	NP_001193620	Q33E94	RFX4_HUMAN	Homo sapiens regulatory factor X, 4 (influences HLA class II expression) (RFX4), transcript variant 4, mRNA.	389	Necessary for dimerization.				transcription, DNA-dependent	nucleus	DNA binding			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(20)|pancreas(1)|upper_aerodigestive_tract(1)	35						ATCTCTTGGAGGAGCAGTCTC	0.493000														46			26		0	0	1	0	0
ARHGDIB	397	broad.mit.edu	37	12	15102800	15102800	+	Silent	SNP	G	A	A			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr12:15102800G>A	uc001rcq.1	-	2	305	c.201C>T	c.(199-201)gtC>gtT	p.V67V		NM_001175	NP_001166	P52566	GDIR2_HUMAN	Homo sapiens Rho GDP dissociation inhibitor (GDI) beta (ARHGDIB), mRNA.	67					Rho protein signal transduction|actin cytoskeleton organization|cellular component movement|immune response|multicellular organismal development|negative regulation of cell adhesion|regulation of small GTPase mediated signal transduction	cytoplasmic membrane-bounded vesicle|cytoskeleton|cytosol	GTPase activator activity|Rho GDP-dissociation inhibitor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	15						GGGTGACAACGACATTGGGGG	0.512000														63			25		0	0	1	0	0
HEPHL1	341208	broad.mit.edu	37	11	93822132	93822132	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr11:93822132A>C	uc001pep.2	+	11	2449	c.2292A>C	c.(2290-2292)gaA>gaC	p.E764D	AF086184_uc001pen.1_Intron	NM_001098672	NP_001092142	Q6MZM0	HPHL1_HUMAN	Homo sapiens hephaestin-like 1 (HEPHL1), mRNA.	764	Plastocyanin-like 5.				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				CAAGAGGGGAAAGGTACCACA	0.527000														10			14		0	0	1	0	0
MST1P2	11209	broad.mit.edu	37	1	16974224	16974224	+	RNA	SNP	C	G	G	rs148702086	by1000genomes	TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr1:16974224C>G	uc009vow.2	+	4		c.1034C>G			MST1P2_uc010ocg.1_Non-coding_Transcript|MST1P2_uc010och.2_Intron|MST1P2_uc010oci.1_Non-coding_Transcript|MST1P2_uc001azk.2_Intron|MST1P2_uc009vox.3_Intron|MST1P2_uc001azm.4_Intron					Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 2 (MST1P2), non-coding RNA.																		TTGGTCCCAGCCCCAGAGGGA	0.652000														24			4		0	0	1	0	0
ATRX	546	broad.mit.edu	37	X	76845318	76845318	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chrX:76845318G>A	uc004ecp.4	-	26	6435	c.6203C>T	c.(6202-6204)cCc>cTc	p.P2068L	ATRX_uc004ecq.4_Missense_Mutation_p.P2030L|ATRX_uc004eco.4_Missense_Mutation_p.P1853L	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	2068	Helicase C-terminal.				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|DNA binding|DNA helicase activity|chromo shadow domain binding|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	ATAAATAAGGGGTTTATCTTT	0.308000			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome							6			24		0	0	1	0	0
TNFSF14	8740	broad.mit.edu	37	19	6664984	6664984	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr19:6664984G>A	uc002mfk.2	-	4	1058	c.676C>T	c.(676-678)Cga>Tga	p.R226*	TNFSF14_uc002mfj.2_Nonsense_Mutation_p.R190*	NM_003807	NP_003798	O43557	TNF14_HUMAN	Homo sapiens tumor necrosis factor (ligand) superfamily, member 14 (TNFSF14), transcript variant 1, mRNA.	226					T cell homeostasis|T cell proliferation|cellular response to mechanical stimulus|immune response|induction of apoptosis|release of cytoplasmic sequestered NF-kappaB	cytoplasm|extracellular space|integral to membrane|plasma membrane	caspase inhibitor activity|cytokine activity|tumor necrosis factor receptor binding			breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18						TCACGCAGTCGAACCAGGCGT	0.602000														61			36		0	0	1	0	0
CMIP	80790	broad.mit.edu	37	16	81479080	81479080	+	Silent	SNP	G	A	A			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr16:81479080G>A	uc002fgp.3	+	0	306	c.234G>A	c.(232-234)tcG>tcA	p.S78S		NM_198390	NP_938204	Q8IY22	CMIP_HUMAN	Homo sapiens c-Maf inducing protein (CMIP), transcript variant 1, mRNA.	44	PH.					cytoplasm|nucleus				endometrium(5)|kidney(1)|lung(7)	13						TCCTCACCTCGAAATTCCTGA	0.632000														2			2		0	0	1	0	0
TMEM132D	121256	broad.mit.edu	37	12	129558863	129558863	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr12:129558863C>T	uc009zyl.1	-	8	3185	c.2857G>A	c.(2857-2859)Gag>Aag	p.E953K	TMEM132D_uc001uia.2_Missense_Mutation_p.E491K	NM_133448	NP_597705	Q14C87	T132D_HUMAN	Homo sapiens transmembrane protein 132D (TMEM132D), mRNA.	953						integral to membrane		p.E953*(2)|p.F952L(1)		NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		TCCTGCTCCTCGAAGGGAACC	0.458000														84			40		0	0	1	0	0
USP30	84749	broad.mit.edu	37	12	109519148	109519148	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr12:109519148C>T	uc010sxi.2	+	7	834	c.730C>T	c.(730-732)Cga>Tga	p.R244*	USP30_uc001tnu.4_Nonsense_Mutation_p.R213*|USP30_uc001tnw.4_5'Flank	NM_032663	NP_116052	Q70CQ3	UBP30_HUMAN	Homo sapiens ubiquitin specific peptidase 30 (USP30), mRNA.	244					ubiquitin-dependent protein catabolic process	integral to membrane|mitochondrial outer membrane	cysteine-type peptidase activity|ubiquitin thiolesterase activity			endometrium(7)|kidney(1)|large_intestine(1)|liver(2)|lung(11)|prostate(1)|skin(3)|stomach(2)	28						GAGTCCTGTTCGATTTGATAC	0.343000														91			44		0	0	1	0	0
FGA	2243	broad.mit.edu	37	4	155505870	155505870	+	Missense_Mutation	SNP	C	A	A			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr4:155505870C>A	uc003iod.1	-	5	2065	c.2007G>T	c.(2005-2007)ttG>ttT	p.L669F		NM_000508	NP_000499	P02671	FIBA_HUMAN	Homo sapiens fibrinogen alpha chain (FGA), transcript variant alpha-E, mRNA.	669	Fibrinogen C-terminal.				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	GCCATCCTCCCAAACTGGTCT	0.448000														65			42		8.16277e-20	8.2721e-20	1	1	0
P4HA3	283208	broad.mit.edu	37	11	74013568	74013568	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr11:74013568C>T	uc010rrj.2	-	2	456	c.413G>A	c.(412-414)aGg>aAg	p.R138K	P4HA3_uc001ouy.4_Non-coding_Transcript|P4HA3_uc001ouz.3_Missense_Mutation_p.R138K			Q7Z4N8	P4HA3_HUMAN	Homo sapiens prolyl 4-hydroxylase, alpha polypeptide III (P4HA3), mRNA.	138						endoplasmic reticulum lumen	L-ascorbic acid binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(1)	15	Breast(11;2.31e-05)					CATCAGGGCCCTTGCTGCTCC	0.532000														24			28		0	0	1	0	0
HECW1	23072	broad.mit.edu	37	7	43590091	43590091	+	Silent	SNP	G	A	A			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr7:43590091G>A	uc003tid.1	+	26	4901	c.4296G>A	c.(4294-4296)acG>acA	p.T1432T	HECW1_uc011kbi.1_Silent_p.T1398T	NM_015052	NP_055867	Q76N89	HECW1_HUMAN	Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 (HECW1), mRNA.	1432	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						CACAGGTGACGGAGAAAAACA	0.547000														11			14		0	0	1	0	0
KIAA1109	84162	broad.mit.edu	37	4	123176364	123176364	+	Missense_Mutation	SNP	T	A	A			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr4:123176364T>A	uc003ieh.3	+	37	6349	c.6304T>A	c.(6304-6306)Tca>Aca	p.S2102T	KIAA1109_uc003iel.1_Missense_Mutation_p.S37T|KIAA1109_uc003iek.2_Missense_Mutation_p.S721T	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	Homo sapiens KIAA1109 (KIAA1109), mRNA.	2102					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						AGAAAATCCTTCATGTTTACT	0.328000														77			41		0	0	1	0	0
PRKCQ	5588	broad.mit.edu	37	10	6498675	6498675	+	Silent	SNP	C	T	T			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr10:6498675C>T	uc001iji.1	-	13	1791	c.1707G>A	c.(1705-1707)acG>acA	p.T569T	PRKCQ_uc001ijj.2_Silent_p.T536T|PRKCQ_uc009xim.2_Silent_p.T536T|PRKCQ_uc009xin.2_Silent_p.T500T|PRKCQ_uc010qax.2_Silent_p.T411T	NM_006257	NP_006248	Q04759	KPCT_HUMAN	Homo sapiens protein kinase C, theta (PRKCQ), transcript variant 1, mRNA.	536	Protein kinase.				T cell receptor signaling pathway|axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth	cytosol	ATP binding|metal ion binding|protein binding|protein kinase C activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2)	45						AGAAGGTATTCGTCTTGGCAT	0.507000														37			19		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140724284	140724284	+	Silent	SNP	C	T	T			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr5:140724284C>T	uc003ljm.2	+	0	684	c.684C>T	c.(682-684)atC>atT	p.I228I	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc011dap.2_Silent_p.I228I	NM_018916	NP_061739	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 3 (PCDHGA3), transcript variant 1, mRNA.	228	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACTTGCACATCCAAGTGATAG	0.547000														9			20		0	0	1	0	0
SMAD1	4086	broad.mit.edu	37	4	146475004	146475004	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr4:146475004C>T	uc003ikc.3	+	5	1482	c.1066C>T	c.(1066-1068)Caa>Taa	p.Q356*	SMAD1_uc003ikd.3_Nonsense_Mutation_p.Q356*|SMAD1_uc010iov.3_Nonsense_Mutation_p.Q356*|SMAD1_uc011cic.2_Nonsense_Mutation_p.Q317*	NM_005900	NP_005891	Q15797	SMAD1_HUMAN	Homo sapiens SMAD family member 1 (SMAD1), transcript variant 1, mRNA.	356	MH2.				BMP signaling pathway|SMAD protein complex assembly|embryonic pattern specification|primary miRNA processing|transforming growth factor beta receptor signaling pathway	cytosol|integral to membrane|nuclear inner membrane	I-SMAD binding|co-SMAD binding|identical protein binding|protein kinase binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity			endometrium(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	17	all_hematologic(180;0.151)					CATCTTTGTGCAAAGTCGGAA	0.398000														94			51		0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11687704	11687704	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr17:11687704C>T	uc002gne.3	+	40	7977	c.7909C>T	c.(7909-7911)Ctc>Ttc	p.L2637F	DNAH9_uc010coo.3_Missense_Mutation_p.L1931F	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	2637	AAA 3 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.L2637L(1)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GCATCTGAAGCTCGGAAACTT	0.562000														130			70		0	0	1	0	0
DDX3X	1654	broad.mit.edu	37	X	41206171	41206171	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chrX:41206171C>T	uc004dfe.3	+	14	2530	c.1675C>T	c.(1675-1677)Ctt>Ttt	p.L559F	DDX3X_uc011mks.2_Intron|DDX3X_uc004dff.3_Missense_Mutation_p.L559F|DDX3X_uc011mkq.2_Missense_Mutation_p.L543F|DDX3X_uc011mkr.2_Missense_Mutation_p.L429F|DDX3X_uc004dfg.3_Non-coding_Transcript	NM_001356	NP_001347	O00571	DDX3X_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 3, X-linked (DDX3X), transcript variant 1, mRNA.	559	Helicase C-terminal.				interspecies interaction between organisms	cytoplasm|nuclear speck	ATP binding|ATP-dependent RNA helicase activity|DNA binding|RNA binding|protein binding			NS(3)|breast(8)|central_nervous_system(36)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84						TTTGTTGGATCTTCTTGTTGA	0.403000										HNSCC(61;0.18)				8			44		0	0	1	0	0
CLCNKA	1187	broad.mit.edu	37	1	16360146	16360146	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr1:16360146C>T	uc001axu.3	+	19	2137	c.2057C>T	c.(2056-2058)cCa>cTa	p.P686L	CLCNKA_uc001axt.3_Non-coding_Transcript|CLCNKA_uc010obw.2_Missense_Mutation_p.P643L|CLCNKA_uc001axv.3_Missense_Mutation_p.P685L|CLCNKA_uc021ogl.1_Intron	NM_004070	NP_004061	P51800	CLCKA_HUMAN	Homo sapiens chloride channel Ka (CLCNKA), transcript variant 1, mRNA.	686					excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1)	19		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	Niflumic Acid(DB04552)	CCGCCAGCTCCAAAGTGAGCC	0.582000														21			13		0	0	1	0	0
KIR2DL5B	553128	broad.mit.edu	37	GL000209.1	95482	95482	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chrGL000209.1:95482G>A	uc002quk.1	+	7	923	c.868G>A	c.(868-870)Gat>Aat	p.D290N	KIR2DL2_uc002qtt.2_Intron|KIR2DL2_uc002qty.3_Intron|KIR2DL2_uc021vdb.1_Intron|KIR2DL2_uc010yie.2_Intron|KIR2DL2_uc002qul.2_5'Flank	NM_001018081	NP_001018091	Q8NHK4	Q8NHK4_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 5B (KIR2DL5B), mRNA.	290							receptor activity										GGACTCTGATGATCAAGACCC	0.502000														161			104		0	0	1	0	0
TTLL12	23170	broad.mit.edu	37	22	43570232	43570232	+	Silent	SNP	G	A	A			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr22:43570232G>A	uc003bdq.3	-	7	1274	c.1212C>T	c.(1210-1212)ttC>ttT	p.F404F	TTLL12_uc021wqu.1_5'Flank	NM_015140	NP_055955	Q14166	TTL12_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 12 (TTLL12), mRNA.	404	TTL.				protein modification process		tubulin-tyrosine ligase activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)	13		Ovarian(80;0.221)|Glioma(61;0.222)				CCCGCTGCTGGAAGTAGCTGA	0.667000														87			49		0	0	1	0	0
UNC80	285175	broad.mit.edu	37	2	210640756	210640756	+	Silent	SNP	C	T	T			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr2:210640756C>T	uc010zjc.1	+	2	365	c.285C>T	c.(283-285)aaC>aaT	p.N95N	UNC80_uc021vvx.1_Silent_p.N95N|UNC80_uc002vdj.1_Silent_p.N95N	NM_032504	NP_115893	Q8N2C7	UNC80_HUMAN	Homo sapiens unc-80 homolog (C. elegans) (UNC80), transcript variant 1, mRNA.	95						integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)	20						TGCTTTCAAACCGAAACAAGC	0.478000														71			57		0	0	1	0	0
DCST1	149095	broad.mit.edu	37	1	155020646	155020646	+	Splice_Site	SNP	G	A	A	rs143335670		TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr1:155020646G>A	uc001fgn.2	+	16	1983	c.1869_splice	c.e16+1	p.P623_splice	DCST1_uc010pes.2_Splice_Site_p.P598_splice|LOC100505666_uc021pam.1_Intron|LOC100505666_uc021pan.1_Intron|ADAM15_uc001fgq.1_5'Flank	NM_152494	NP_689707	Q5T197	DCST1_HUMAN	Homo sapiens DC-STAMP domain containing 1 (DCST1), transcript variant 1, mRNA.	623						integral to membrane	zinc ion binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	27	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			AGAAGGCTCCGGTAAGTCCAG	0.582000														17			16		0	0	1	0	0
PVR	5817	broad.mit.edu	37	19	45150785	45150785	+	Silent	SNP	C	T	T			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr19:45150785C>T	uc002ozm.3	+	1	669	c.370C>T	c.(370-372)Ctg>Ttg	p.L124L	PVR_uc010ejs.3_Silent_p.L124L|PVR_uc010xxb.2_Silent_p.L124L|PVR_uc010xxc.2_Silent_p.L124L|PVR_uc002ozn.3_Silent_p.L69L	NM_006505	NP_006496	P15151	PVR_HUMAN	Homo sapiens poliovirus receptor (PVR), transcript variant 1, mRNA.	124	Ig-like V-type.				adherens junction organization|cell adhesion|cell junction assembly|interspecies interaction between organisms|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|susceptibility to T cell mediated cytotoxicity|susceptibility to natural killer cell mediated cytotoxicity	cell junction|cell surface|cytoplasm|extracellular space|integral to membrane|nucleus	cell adhesion molecule binding|receptor activity			large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	6	Lung NSC(12;0.00608)|all_lung(12;0.0148)	Medulloblastoma(540;0.0425)|Ovarian(192;0.0728)|Prostate(69;0.081)|all_neural(266;0.112)		Epithelial(262;0.000601)		CTACACCTGCCTGTTCGTCAC	0.607000														6			6		0	0	1	0	0
USP29	57663	broad.mit.edu	37	19	57641439	57641439	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr19:57641439C>T	uc002qny.3	+	3	1752	c.1396C>T	c.(1396-1398)Cct>Tct	p.P466S	USP29_uc021vci.1_Missense_Mutation_p.P466S	NM_020903	NP_065954	Q9HBJ7	UBP29_HUMAN	Homo sapiens ubiquitin specific peptidase 29 (USP29), mRNA.	466					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		AAAACCACTTCCTTTGTCCAT	0.383000														112			66		0	0	1	0	0
MYH11	4629	broad.mit.edu	37	16	15826559	15826559	+	Silent	SNP	C	T	T			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr16:15826559C>T	uc002ddx.3	-	27	3641	c.3534G>A	c.(3532-3534)aaG>aaA	p.K1178K	MYH11_uc002ddv.3_Silent_p.K1178K|MYH11_uc002ddw.3_Silent_p.K1171K|MYH11_uc002ddy.3_Silent_p.K1171K|MYH11_uc010bvg.3_Silent_p.K1003K	NM_001040114	NP_001035203	P35749	MYH11_HUMAN	Homo sapiens myosin, heavy chain 11, smooth muscle (MYH11), transcript variant SM1B, mRNA.	1171					axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						CCTGCTCCCTCTTGGCCCTTG	0.587000			T	CBFB	AML									43			26		0	0	1	0	0
RPS27A	6233	broad.mit.edu	37	2	55462591	55462591	+	Missense_Mutation	SNP	C	A	A			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr2:55462591C>A	uc010yow.2	+	5	572	c.349C>A	c.(349-351)Ctt>Att	p.L117I	C2orf63_uc002ryj.2_5'Flank|RPS27A_uc002ryk.3_Missense_Mutation_p.L117I|RPS27A_uc021vhs.1_Missense_Mutation_p.L117I	NM_001135592	NP_002945	P62979	RS27A_HUMAN	Homo sapiens ribosomal protein S27a (RPS27A), transcript variant 2, mRNA.	117					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|JNK cascade|M/G1 transition of mitotic cell cycle|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|S phase of mitotic cell cycle|T cell receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|endocrine pancreas development|endosome transport|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|innate immune response|mRNA metabolic process|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	metal ion binding|structural constituent of ribosome			cervix(1)|ovary(1)|urinary_tract(1)	3						AATTAGTCGCCTTCGTCGAGA	0.393000														103			66		1.25706e-45	1.28537e-45	1	1	0
CTNND2	1501	broad.mit.edu	37	5	10973626	10973627	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr5:10973626_10973627GG>AA	uc003jfa.1	-	21	3761_3762	c.3616_3617CC>TT	c.(3616-3618)ccc>TTc	p.P1206F	CTNND2_uc010itt.2_Missense_Mutation_p.P1115F|CTNND2_uc011cmy.1_Missense_Mutation_p.P869F|CTNND2_uc011cmz.1_Missense_Mutation_p.P773F|CTNND2_uc010itu.1_Non-coding_Transcript|CTNND2_uc011cmx.1_Missense_Mutation_p.P798F	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN	Homo sapiens catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein) (CTNND2), mRNA.	1206					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding	p.R1205H(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						TTCACTGTAGGGACGGGCAGCT	0.619000														41			18		0	0	1	0	0
PRSS57	400668	broad.mit.edu	37	19	692001	692001	+	Splice_Site	SNP	C	T	T			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr19:692001C>T	uc002lpl.1	-	3	268	c.237_splice	c.e3-1	p.R79_splice	PRSS57_uc010xfs.1_Splice_Site_p.R78_splice	NM_214710	NP_999875	Q6UWY2	PRS57_HUMAN	Homo sapiens protease, serine, 57 (PRSS57), mRNA.	79	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			central_nervous_system(1)|lung(5)	6						GTGCGGAGGTCTCTGCAGGGA	0.677000														7			2		0	0	1	0	0
COL21A1	81578	broad.mit.edu	37	6	55933860	55933861	+	Nonsense_Mutation	DNP	CC	TA	TA			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr6:55933860_55933861CC>TA	uc003pcs.3	-	21	2306_2307	c.2074_2075GG>TA	c.(2074-2076)ggg>TAg	p.G692*	COL21A1_uc010jzz.3_Nonsense_Mutation_p.G77*|COL21A1_uc011dxg.2_Nonsense_Mutation_p.G77*|COL21A1_uc011dxh.2_Nonsense_Mutation_p.G77*|COL21A1_uc003pcr.3_Missense_Mutation_p.G50R	NM_030820	NP_110447	Q96P44	COLA1_HUMAN	Homo sapiens collagen, type XXI, alpha 1 (COL21A1), mRNA.	692	Collagen-like 4.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			TCCTTGAATCCCGGGTAAACCC	0.406000														17			7		0	0	1	0	0
STS	412	broad.mit.edu	37	X	7171267	7171267	+	Silent	SNP	C	T	T			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chrX:7171267C>T	uc004cry.4	+	1	287	c.42C>T	c.(40-42)ttC>ttT	p.F14F	STS_uc004crw.2_Non-coding_Transcript|STS_uc011mhp.1_Non-coding_Transcript|STS_uc004crx.1_Non-coding_Transcript	NM_000351	NP_000342	P08842	STS_HUMAN	Homo sapiens steroid sulfatase (microsomal), isozyme S (STS), mRNA.	14					female pregnancy|steroid catabolic process	Golgi apparatus|endoplasmic reticulum membrane|endosome|integral to membrane|lysosome|microsome|plasma membrane	metal ion binding|steryl-sulfatase activity			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(1)	27		Colorectal(8;0.0136)|Medulloblastoma(8;0.184)			Estrone(DB00655)	TCCTACTGTTCTTTCTGTGGG	0.512000									Ichthyosis					6			18		0	0	1	0	0
PLOD3	8985	broad.mit.edu	37	7	100855889	100855889	+	Silent	SNP	C	T	T			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr7:100855889C>T	uc003uyd.3	-	8	1383	c.927G>A	c.(925-927)ccG>ccA	p.P309P		NM_001084	NP_001075	O60568	PLOD3_HUMAN	Homo sapiens procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3 (PLOD3), mRNA.	309					protein modification process	rough endoplasmic reticulum membrane	L-ascorbic acid binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	31	Lung NSC(181;0.168)|all_lung(186;0.215)				Succinic acid(DB00139)|Vitamin C(DB00126)	GGGGCAGAAACGGAGTAGGCT	0.617000														32			20		0	0	1	0	0
TINAGL1	64129	broad.mit.edu	37	1	32042809	32042809	+	Silent	SNP	G	T	T			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr1:32042809G>T	uc001bta.3	+	1	186	c.60G>T	c.(58-60)ctG>ctT	p.L20L	TINAGL1_uc010ogi.1_Silent_p.L20L|TINAGL1_uc010ogj.2_Silent_p.L20L|TINAGL1_uc010ogk.1_Silent_p.L20L|TINAGL1_uc021oko.1_5'Flank	NM_022164	NP_001191344	Q9GZM7	TINAL_HUMAN	Homo sapiens tubulointerstitial nephritis antigen-like 1 (TINAGL1), transcript variant 1, mRNA.	20					endosome transport|immune response|proteolysis	extracellular region	cysteine-type endopeptidase activity|extracellular matrix structural constituent|polysaccharide binding|scavenger receptor activity			breast(2)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(4)|prostate(1)|skin(3)|urinary_tract(1)	18		Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		STAD - Stomach adenocarcinoma(196;0.0526)|READ - Rectum adenocarcinoma(331;0.145)		ACTTGGCTCTGGGTGCCCAGC	0.706000														5			10		0.00829132	0.00829132	1	1	0
RFPL1	5988	broad.mit.edu	37	22	29837951	29837951	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr22:29837951C>T	uc003afn.3	+	1	1003	c.794C>T	c.(793-795)tCc>tTc	p.S265F	RFPL1-AS1_uc003afm.2_Non-coding_Transcript	NM_021026	NP_066306	O75677	RFPL1_HUMAN	Homo sapiens ret finger protein-like 1 (RFPL1), mRNA.	265	B30.2/SPRY.						zinc ion binding			endometrium(3)|large_intestine(1)|lung(6)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	16						GAAGGTGGTTCCCATGTCTAT	0.473000														106			6		0	0	1	0	0
PTPDC1	138639	broad.mit.edu	37	9	96857654	96857654	+	Silent	SNP	C	T	T			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr9:96857654C>T	uc010mrj.2	+	4	774	c.672C>T	c.(670-672)atC>atT	p.I224I	PTPDC1_uc004auf.2_Silent_p.I170I|PTPDC1_uc004aug.2_Silent_p.I170I|PTPDC1_uc004auh.2_Silent_p.I222I|PTPDC1_uc010mri.2_Silent_p.I222I	NM_001253829	NP_001240758	A2A3K4	PTPC1_HUMAN	Homo sapiens protein tyrosine phosphatase domain containing 1 (PTPDC1), transcript variant 3, mRNA.	170	Tyrosine-protein phosphatase.						protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	32						TTACTACTATCCTAGATATGG	0.398000														67			41		0	0	1	0	0
CSTL1	128817	broad.mit.edu	37	20	23420915	23420915	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr20:23420915G>A	uc002wte.3	+	1	257	c.11G>A	c.(10-12)gGa>gAa	p.G4E	CSTL1_uc010zsu.2_Non-coding_Transcript|CSTL1_uc010zsv.2_Non-coding_Transcript	NM_138283	NP_612140	Q9H114	CST1L_HUMAN	Homo sapiens cystatin-like 1 (CSTL1), mRNA.	4						extracellular region	cysteine-type endopeptidase inhibitor activity			breast(2)|endometrium(2)|large_intestine(3)|lung(4)|skin(2)|stomach(1)	14	Colorectal(13;0.0993)|Lung NSC(19;0.235)					ATGGGGATCGGATGCTGGAGA	0.567000														50			33		0	0	1	0	0
TELO2	9894	broad.mit.edu	37	16	1551737	1551737	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr16:1551737C>T	uc002cly.3	+	10	1726	c.1435C>T	c.(1435-1437)Caa>Taa	p.Q479*		NM_016111	NP_057195	Q9Y4R8	TELO2_HUMAN	Homo sapiens TEL2, telomere maintenance 2, homolog (S. cerevisiae) (TELO2), mRNA.	479						chromosome, telomeric region|cytoplasm|membrane|nucleus	protein binding			NS(1)|endometrium(1)|kidney(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	19		Hepatocellular(780;0.219)				CGGCGTCCCCCAAGCACAGCT	0.652000														28			19		0	0	1	0	0
ELF2	1998	broad.mit.edu	37	4	139981786	139981786	+	Silent	SNP	C	T	T			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr4:139981786C>T	uc003ihp.1	-	7	1064	c.813G>A	c.(811-813)caG>caA	p.Q271Q	ELF2_uc003ihm.1_Silent_p.Q223Q|ELF2_uc003ihn.1_Silent_p.Q211Q|ELF2_uc003iho.1_Silent_p.Q194Q|ELF2_uc011chc.1_Silent_p.Q86Q	NM_201999	NP_973728	Q15723	ELF2_HUMAN	Homo sapiens E74-like factor 2 (ets domain transcription factor) (ELF2), transcript variant 1, mRNA.	283					negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	cytoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	19	all_hematologic(180;0.162)					ATACAAGCCTCTGTCCTTCAA	0.383000														82			63		0	0	1	0	0
NBR1	4077	broad.mit.edu	37	17	41345575	41345575	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr17:41345575C>T	uc010whv.2	+	11	1527	c.1444C>T	c.(1444-1446)Ccc>Tcc	p.P482S	NBR1_uc010czd.3_Missense_Mutation_p.P482S|NBR1_uc010diz.3_Missense_Mutation_p.P482S|NBR1_uc010whu.2_Missense_Mutation_p.P482S|NBR1_uc010whw.2_Missense_Mutation_p.P461S|NBR1_uc010whx.1_Missense_Mutation_p.P291S	NM_005899	NP_114068	Q14596	NBR1_HUMAN	Homo sapiens neighbor of BRCA1 gene 1 (NBR1), transcript variant 1, mRNA.	482					macroautophagy|protein oligomerization	autophagic vacuole|cytoplasmic vesicle|cytosol|late endosome|lysosome|sarcomere	ubiquitin binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	24		Breast(137;0.00086)		BRCA - Breast invasive adenocarcinoma(366;0.0934)		AGATCCTTTCCCCTCCGAAGA	0.512000														10			5		0	0	1	0	0
LGI2	55203	broad.mit.edu	37	4	25005391	25005391	+	Silent	SNP	G	A	A			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr4:25005391G>A	uc003grf.2	-	7	1419	c.1320C>T	c.(1318-1320)atC>atT	p.I440I		NM_018176	NP_060646	Q8N0V4	LGI2_HUMAN	Homo sapiens leucine-rich repeat LGI family, member 2 (LGI2), mRNA.	440						extracellular region		p.I440I(2)		breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(2)	33		Breast(46;0.173)				GGGAGTCCCCGATGAAGCGGG	0.537000														176			128		0	0	1	0	0
FAM71A	149647	broad.mit.edu	37	1	212798993	212798993	+	RNA	SNP	C	T	T			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr1:212798993C>T	uc010pth.1	-	0		c.1121G>A			FAM71A_uc001hjk.3_Silent_p.S258S			Q8IYT1	FA71A_HUMAN	Homo sapiens cDNA FLJ40118 fis, clone TESTI2009412.											breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(12)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(81;0.00631)|all cancers(67;0.00981)|GBM - Glioblastoma multiforme(131;0.0715)|Epithelial(68;0.094)		TCAATGCATCCATCCCCAAAA	0.552000														74			84		0	0	1	0	0
BCAT2	587	broad.mit.edu	37	19	49303477	49303478	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr19:49303477_49303478CC>TT	uc010emh.2	-	3	433_434	c.377_378GG>AA	c.(376-378)cgg>cAA	p.R126Q	BCAT2_uc002pkq.4_Missense_Mutation_p.R86Q|BCAT2_uc002pks.3_Missense_Mutation_p.R86Q|BCAT2_uc002pkr.3_Missense_Mutation_p.R126Q|BCAT2_uc002pkt.3_Missense_Mutation_p.R34Q|BCAT2_uc010emi.2_Missense_Mutation_p.R34Q|BCAT2_uc002pku.1_Missense_Mutation_p.R86Q|BCAT2_uc010emj.2_Non-coding_Transcript	NM_001190	NP_001181	O15382	BCAT2_HUMAN	Homo sapiens branched chain amino-acid transaminase 2, mitochondrial (BCAT2), nuclear gene encoding mitochondrial protein, transcript variant a, mRNA.	126						mitochondrial matrix	L-isoleucine transaminase activity|L-leucine transaminase activity|L-valine transaminase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	12		all_epithelial(76;7e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000138)|all cancers(93;0.000366)|Epithelial(262;0.0195)|GBM - Glioblastoma multiforme(486;0.0224)	L-Glutamic Acid(DB00142)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|Pyridoxal Phosphate(DB00114)	AGCGCAGCATCCGGTCCATGTT	0.693000														27			15		0	0	1	0	0
GUF1	60558	broad.mit.edu	37	4	44700577	44700577	+	Frame_Shift_Del	DEL	C	-	-			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr4:44700577delC	uc003gww.4	+	16	2096	c.1889delC	c.(1888-1890)accfs	p.T630fs	GUF1_uc011bza.2_Frame_Shift_Del_p.T37fs	NM_021927	NP_068746	Q8N442	GUF1_HUMAN	Homo sapiens GUF1 GTPase homolog (S. cerevisiae) (GUF1), mRNA.	630					translation	mitochondrial inner membrane	GTP binding|GTPase activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	19						GGTGATATTACCCGAAAAATG	0.343													---	73	---	---	25	---					
TBL3	10607	broad.mit.edu	37	16	2025061	2025084	+	In_Frame_Del	DEL	CTCACTGGCCTTCAGCGCCGACGG	-	-	rs147896871	byFrequency	TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr16:2025061_2025084delCTCACTGGCCTTCAGCGCCGACGG	uc002cnu.1	+	6	699_722	c.597_620delCTCACTGGCCTTCAGCGCCGACGG	c.(595-621)acctcactggccttcagcgccgacggc>acc	p.SLAFSADG200del	TCRBV20S1_uc021tak.1_Intron|TBL3_uc002cnv.1_In_Frame_Del_p.SLAFSADG86del|TBL3_uc010bsc.1_In_Frame_Del_p.SLAFSADG86del|TBL3_uc010uvt.1_5'UTR|TBL3_uc002cnw.1_5'Flank	NM_006453	NP_006444	Q12788	TBL3_HUMAN	Homo sapiens transducin (beta)-like 3 (TBL3), mRNA.	200					G-protein signaling, coupled to cGMP nucleotide second messenger|rRNA processing	nucleolus|small-subunit processome	receptor signaling protein activity			breast(1)|endometrium(2)|kidney(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	18						GCGCCGTCACCTCACTGGCCTTCAGCGCCGACGGCCACACCATG	0.643													---	33	---	---	13	---					
CEP192	55125	broad.mit.edu	37	18	13056266	13056268	+	In_Frame_Del	DEL	CTC	-	-			TCGA-D9-A3Z4-01A-11D-A23B-08	TCGA-D9-A3Z4-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	768ebbb6-b7fc-495e-b08a-fccae159dc42	f89fb4bf-e03f-4f76-ad96-069aee98067a	g.chr18:13056266_13056268delCTC	uc010xac.2	+	18	3757_3759	c.3677_3679delCTC	c.(3676-3681)actcct>act	p.P1227del	CEP192_uc010dlf.1_Non-coding_Transcript|CEP192_uc010xad.2_In_Frame_Del_p.P752del|CEP192_uc002kru.3_Non-coding_Transcript|CEP192_uc002krv.3_5'UTR|CEP192_uc002krs.1_In_Frame_Del_p.P968del	NM_032142	NP_115518	B7ZMF0	B7ZMF0_HUMAN	Homo sapiens centrosomal protein 192kDa (CEP192), mRNA.	822										NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						AACCAGTGTACTCCTATTCCCAG	0.502													---	47	---	---	24	---