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
RPS6KA1	6195	broad.mit.edu	37	1	26883501	26883501	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr1:26883501C>T	uc001bmr.1	+	12	1157	c.994C>T	c.(994-996)Cgt>Tgt	p.R332C	RPS6KA1_uc010ofe.1_Missense_Mutation_p.R240C|RPS6KA1_uc010off.1_Missense_Mutation_p.R316C|RPS6KA1_uc001bms.1_Missense_Mutation_p.R341C|RPS6KA1_uc009vsl.1_Missense_Mutation_p.R175C	NM_002953	NP_002944	Q15418	KS6A1_HUMAN	Homo sapiens ribosomal protein S6 kinase, 90kDa, polypeptide 1 (RPS6KA1), transcript variant 1, mRNA.	332	AGC-kinase C-terminal.				axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|caspase inhibitor activity|magnesium ion binding|protein binding|protein serine/threonine kinase activity			lung(1)	1		all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234)		GCTATACCGTCGTGAGATCAA	0.597												
SFPQ	6421	broad.mit.edu	37	1	35656550	35656550	+	Frame_Shift_Del	DEL	G	G	-			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr1:35656550delG	uc001bys.3	-	2	1157	c.1064delC	c.(1063-1065)acafs	p.T355fs		NM_005066	NP_005057	P23246	SFPQ_HUMAN	Homo sapiens splicing factor proline/glutamine-rich (SFPQ), mRNA.	355	RRM 1.				alternative nuclear mRNA splicing, via spliceosome|DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix|paraspeckles	DNA binding|nucleotide binding|protein binding|RNA binding		SFPQ/TFE3(6)	NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196)				TCTCATGGGTGTATCATCCAG	0.438			T	TFE3	papillary renal cell							
CLDN19	149461	broad.mit.edu	37	1	43201615	43201615	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr1:43201615G>A	uc001cht.1	-	3	751	c.560C>T	c.(559-561)cCg>cTg	p.P187L	CLDN19_uc001chu.2_Missense_Mutation_p.P187L|CLDN19_uc010ojv.1_Missense_Mutation_p.R159W	NM_148960	NP_683763	Q8N6F1	CLD19_HUMAN	Homo sapiens claudin 19 (CLDN19), transcript variant 1, mRNA.	187					calcium-independent cell-cell adhesion|response to stimulus|visual perception	basolateral plasma membrane|integral to membrane|tight junction	identical protein binding			breast(2)|large_intestine(1)|lung(2)|skin(1)	6	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CTCTGGCTCCGGGCATGTGCA	0.677												
CLCA1	1179	broad.mit.edu	37	1	86952277	86952277	+	Silent	SNP	G	G	A			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr1:86952277G>A	uc001dlt.3	+	6	1283	c.1023G>A	c.(1021-1023)ggG>ggA	p.G341G	CLCA1_uc001dls.1_Silent_p.G280G	NM_001285	NP_001276	A8K7I4	CLCA1_HUMAN	Homo sapiens chloride channel accessory 1 (CLCA1), mRNA.	341	VWFA.				calcium ion transport	extracellular space|integral to plasma membrane	chloride channel activity			NS(1)|breast(3)|endometrium(1)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Lung NSC(277;0.239)		all cancers(265;0.0249)|Epithelial(280;0.0476)		TTGAGCTGGGGTCCTGGGTTG	0.478												
CLCA4	22802	broad.mit.edu	37	1	87045055	87045055	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr1:87045055C>T	uc009wcs.3	+	12	2185	c.2141C>T	c.(2140-2142)cCg>cTg	p.P714L	CLCA4_uc009wct.3_Missense_Mutation_p.P477L|CLCA4_uc009wcu.3_Missense_Mutation_p.P534L	NM_012128	NP_036260	Q14CN2	CLCA4_HUMAN	Homo sapiens chloride channel accessory 4 (CLCA4), transcript variant 1, mRNA.	714						apical plasma membrane|extracellular region|integral to plasma membrane	chloride channel activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44		Lung NSC(277;0.238)		all cancers(265;0.0202)|Epithelial(280;0.0404)		GAAGCAAACCCGCCAAGACCT	0.428												
SPTA1	6708	broad.mit.edu	37	1	158651339	158651339	+	Missense_Mutation	SNP	A	A	G			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr1:158651339A>G	uc001fst.1	-	3	708	c.509T>C	c.(508-510)aTc>aCc	p.I170T		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	170					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CCACTCTAAGATGTCAGCACA	0.537												
PTPN14	5784	broad.mit.edu	37	1	214575057	214575057	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr1:214575057C>T	uc001hkk.2	-	6	1293	c.640G>A	c.(640-642)Gga>Aga	p.G214R	PTPN14_uc021piy.1_Intron|PTPN14_uc010pty.2_Missense_Mutation_p.G115R	NM_005401	NP_005392	Q15678	PTN14_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 14 (PTPN14), mRNA.	214	FERM.				lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding			NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		TGTCCAAATCCATCCAAACGT	0.423												
SIPA1L2	57568	broad.mit.edu	37	1	232619633	232619633	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr1:232619633G>A	uc001hvg.3	-	3	2044	c.1886C>T	c.(1885-1887)aCg>aTg	p.T629M		NM_020808	NP_065859	Q9P2F8	SI1L2_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 2 (SIPA1L2), mRNA.	629	Rap-GAP.				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	p.T629M(2)		NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				TGGTCCCGCCGTCTCATTGTT	0.448												
OR2M2	391194	broad.mit.edu	37	1	248344248	248344248	+	Missense_Mutation	SNP	T	T	A			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr1:248344248T>A	uc010pzf.2	+	0	961	c.961T>A	c.(961-963)Ttg>Atg	p.L321M		NM_001004688	NP_001004688	Q96R28	OR2M2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily M, member 2 (OR2M2), mRNA.	321					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			ACTTTATGTTTTGCTGTTTGC	0.373												
KNDC1	85442	broad.mit.edu	37	10	135020649	135020649	+	Nonsense_Mutation	SNP	C	C	A			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr10:135020649C>A	uc001llz.1	+	19	3589	c.3588C>A	c.(3586-3588)taC>taA	p.Y1196*	KNDC1_uc001lma.1_3'UTR	NM_152643	NP_689856	Q76NI1	VKIND_HUMAN	Homo sapiens kinase non-catalytic C-lobe domain (KIND) containing 1 (KNDC1), transcript variant 1, mRNA.	1196					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)		AGGTCATGTACGCGGAACGCT	0.657												
MRGPRX1	259249	broad.mit.edu	37	11	18955702	18955702	+	Silent	SNP	C	C	T			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr11:18955702C>T	uc001mpg.3	-	0	848	c.630G>A	c.(628-630)ccG>ccA	p.P210P		NM_147199	NP_671732	Q96LB2	MRGX1_HUMAN	Homo sapiens MAS-related GPR, member X1 (MRGPRX1), mRNA.	210					acute-phase response	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						GCCTGGTCAGCGGTATCTTCC	0.507												
PIK3C2G	5288	broad.mit.edu	37	12	18435195	18435195	+	Silent	SNP	A	A	G			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr12:18435195A>G	uc001rdt.3	+	1	296	c.180A>G	c.(178-180)gaA>gaG	p.E60E	PIK3C2G_uc010sia.2_Non-coding_Transcript|PIK3C2G_uc010sib.2_Silent_p.E60E|PIK3C2G_uc010sic.2_5'UTR	NM_004570	NP_004561	O75747	P3C2G_HUMAN	Homo sapiens phosphoinositide-3-kinase, class 2, gamma polypeptide (PIK3C2G), mRNA.	60					cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				AAATTGATGAAAACACCTTTT	0.398												
GLI1	2735	broad.mit.edu	37	12	57864141	57864141	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr12:57864141G>A	uc001snx.3	+	11	1712	c.1618G>A	c.(1618-1620)Gaa>Aaa	p.E540K	GLI1_uc021qzi.1_Missense_Mutation_p.E499K|GLI1_uc009zpq.3_Missense_Mutation_p.E412K	NM_005269	NP_001153517	P08151	GLI1_HUMAN	Homo sapiens GLI family zinc finger 1 (GLI1), transcript variant 1, mRNA.	540					epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			AGTCTCTCTTGAACGCCGCAG	0.612												
TRHDE	283392	broad.mit.edu	37	12	72667155	72667155	+	Translation_Start_Site	SNP	G	G	A			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr12:72667155G>A	uc001sxa.3	+	0	627	c.597G>A	c.(595-597)gcG>gcA	p.A199A	LOC283392_uc010stv.2_5'UTR|LOC283392_uc021rat.1_5'Flank	NM_013381	NP_037513	Q9UKU6	TRHDE_HUMAN	Homo sapiens thyrotropin-releasing hormone degrading enzyme (TRHDE), mRNA.	199					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						AGGACCGGGCGTTCGGGGCTG	0.607												
UHRF1BP1L	23074	broad.mit.edu	37	12	100433500	100433500	+	Silent	SNP	G	G	A			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr12:100433500G>A	uc001tgq.3	-	19	4378	c.4149C>T	c.(4147-4149)acC>acT	p.T1383T	UHRF1BP1L_uc001tgp.3_Silent_p.T1033T	NM_015054	NP_055869	A0JNW5	UH1BL_HUMAN	Homo sapiens UHRF1 binding protein 1-like (UHRF1BP1L), transcript variant 1, mRNA.	1383										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						ACTTTCCACTGGTCAGCAGCA	0.428												
DNAH10	196385	broad.mit.edu	37	12	124298408	124298408	+	Missense_Mutation	SNP	A	A	C			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr12:124298408A>C	uc001uft.4	+	19	3400	c.3375A>C	c.(3373-3375)agA>agC	p.R1125S	DNAH10_uc010tav.1_3'UTR|DNAH10_uc010taw.1_3'UTR	NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA.	1125	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TGGAACTCAGATATAGGGACG	0.383												
RB1	5925	broad.mit.edu	37	13	49039399	49039399	+	Nonsense_Mutation	SNP	C	C	A			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr13:49039399C>A	uc001vcb.3	+	22	2550	c.2384C>A	c.(2383-2385)tCa>tAa	p.S795*		NM_000321	NP_000312	P06400	RB_HUMAN	Homo sapiens retinoblastoma 1 (RB1), mRNA.	795	Domain C; mediates interaction with E4F1.|Interaction with LIMD1.				androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.0?(15)|p.?(11)|p.S794I(1)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TTTCCTAGTTCACCCTTACGG	0.393		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)		
AHNAK2	113146	broad.mit.edu	37	14	105414185	105414185	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr14:105414185G>A	uc010axc.1	-	6	7723	c.7603C>T	c.(7603-7605)Ccc>Tcc	p.P2535S	AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Missense_Mutation_p.P2435S	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	2535						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GCGGAAGGGGGCTGAATGCTG	0.667												
CEP152	22995	broad.mit.edu	37	15	49030645	49030645	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr15:49030645G>A	uc001zwz.3	-	26	5127	c.4934C>T	c.(4933-4935)aCg>aTg	p.T1645M	CEP152_uc001zwy.3_Missense_Mutation_p.T1589M	NM_001194998	NP_001181927	O94986	CE152_HUMAN	Homo sapiens centrosomal protein 152kDa (CEP152), transcript variant 1, mRNA.	1589					centrosome duplication|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein kinase binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		CTCCAAATACGTGGTTTCTTC	0.383												
CERS3	204219	broad.mit.edu	37	15	100996164	100996164	+	Missense_Mutation	SNP	C	C	A			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr15:100996164C>A	uc002bwa.3	-	12	1537	c.966G>T	c.(964-966)ttG>ttT	p.L322F	CERS3_uc002bvz.3_Missense_Mutation_p.L311F|CERS3_uc002bwb.3_Missense_Mutation_p.L311F	NM_178842	NP_849164	Q8IU89	CERS3_HUMAN	Homo sapiens ceramide synthase 3 (CERS3), mRNA.	311	TLC.					endoplasmic reticulum membrane|integral to membrane|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity										GAAGGACCTGCAAGATCATGA	0.393												
DNM1P47	100216544	broad.mit.edu	37	15	102294715	102294715	+	Silent	SNP	C	C	T			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr15:102294715C>T	uc010usj.2	+	4	602	c.543C>T	c.(541-543)gaC>gaT	p.D181D	DQ597539_uc002bxo.3_5'Flank|DQ593864_uc002bxq.2_5'Flank|DQ582666_uc002bxr.3_5'Flank|DQ597539_uc002bxs.3_5'Flank|DQ575740_uc002bxu.1_5'Flank|DQ582460_uc002bxv.1_5'Flank|DQ593630_uc002bxw.1_5'Flank|DQ575740_uc021sxz.1_5'Flank|DQ582460_uc021sya.1_5'Flank|DQ597539_uc021syb.1_5'Flank|DQ582666_uc002bxy.2_5'Flank|DQ575740_uc021syd.1_5'Flank|DQ582460_uc002byb.1_5'Flank|DQ588439_uc002byd.3_5'Flank|DQ593353_uc002bye.3_5'Flank|DQ597703_uc002byf.1_5'Flank|DQ585237_uc002byg.3_5'Flank|DQ588452_uc021syg.1_5'Flank|DQ586526_uc002byi.3_5'Flank|DQ588428_uc002byk.3_5'Flank|DQ597703_uc002bym.3_5'Flank|DQ571896_uc010usm.2_5'Flank|DQ586526_uc021syh.1_5'Flank|DQ588425_uc002byr.3_5'Flank|DQ597703_uc021syi.1_5'Flank|DQ588362_uc002bys.3_5'Flank|DQ588425_uc002byv.3_5'Flank|DQ578285_uc002byx.4_5'Flank|DQ597461_uc021syl.1_5'Flank|DQ586138_uc002bza.3_5'Flank|DQ578289_uc002bzb.3_5'Flank|DQ586526_uc002bzc.1_5'Flank|DQ583497_uc002bze.3_5'Flank|DQ597703_uc002bzg.2_5'Flank|DQ586138_uc002bzi.2_5'Flank|DQ586526_uc002bzl.3_5'Flank|DQ588439_uc002bzm.3_5'Flank|DQ597703_uc002bzo.3_5'Flank|DQ576933_uc002bzp.3_5'Flank|DQ588425_uc002bzq.3_5'Flank|DQ600537_uc002bzr.3_5'Flank					Homo sapiens cDNA clone IMAGE:40009338.																		AGCAGGCAGACCAAGGAGTTC	0.587												
WASH3P	374666	broad.mit.edu	37	15	102515299	102515299	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr15:102515299G>A	uc002cdi.3	+	8	1943	c.523G>A	c.(523-525)Ggc>Agc	p.G175S	WASH3P_uc010bpo.3_Non-coding_Transcript|WASH3P_uc002cdq.3_Non-coding_Transcript|WASH3P_uc002cdr.3_Non-coding_Transcript					Homo sapiens WAS protein family homolog 3 pseudogene (WASH3P), non-coding RNA.									p.G374S(10)		central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25						TGGGGGCATCGGCAAGGCCAA	0.652												
ZP2	7783	broad.mit.edu	37	16	21216830	21216830	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr16:21216830C>T	uc010bwn.1	-	6	803	c.721G>A	c.(721-723)Gcc>Acc	p.A241T	ZP2_uc002dii.2_Missense_Mutation_p.A202T|ZP2_uc010bwo.3_Missense_Mutation_p.A241T	NM_003460	NP_003451	Q05996	ZP2_HUMAN	Homo sapiens zona pellucida glycoprotein 2 (sperm receptor) (ZP2), mRNA.	202					binding of sperm to zona pellucida|intracellular protein transport	endoplasmic reticulum|Golgi apparatus|integral to membrane|multivesicular body|plasma membrane|proteinaceous extracellular matrix|stored secretory granule	acrosin binding|coreceptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(16)|ovary(1)|prostate(1)|stomach(1)	41				GBM - Glioblastoma multiforme(48;0.0573)		TCCTTCATGGCCTCTGGCAGG	0.493												
TAOK2	9344	broad.mit.edu	37	16	29990328	29990328	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr16:29990328C>T	uc010bzm.2	+	4	421	c.386C>T	c.(385-387)gCa>gTa	p.A129V	BOLA2_uc010bzb.1_Intron|TAOK2_uc002dvb.2_Missense_Mutation_p.A129V|TAOK2_uc021tgf.1_Missense_Mutation_p.A129V|TAOK2_uc002dva.2_Missense_Mutation_p.A129V|TAOK2_uc002dvc.2_Missense_Mutation_p.A129V|TAOK2_uc002dvd.2_5'Flank	NM_016151	NP_057235	Q9UL54	TAOK2_HUMAN	Homo sapiens TAO kinase 2 (TAOK2), transcript variant 1, mRNA.	129	Protein kinase.				actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						GTAGAGATCGCAGCTGTGACC	0.577												
TP53	7157	broad.mit.edu	37	17	7577538	7577538	+	Missense_Mutation	SNP	C	C	A	rs11540652		TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr17:7577538C>A	uc002gim.2	-	6	937	c.743G>T	c.(742-744)cGg>cTg	p.R248L	TP53_uc002gig.1_Missense_Mutation_p.R248L|TP53_uc002gih.3_Missense_Mutation_p.R248L|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.R116L|TP53_uc010cnf.1_Missense_Mutation_p.R116L|TP53_uc002gii.1_Missense_Mutation_p.R116L|TP53_uc010cni.1_Missense_Mutation_p.R248L|TP53_uc010cnh.1_Missense_Mutation_p.R248L|TP53_uc002gij.2_Missense_Mutation_p.R248L|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.R155L|TP53_uc002gio.2_Missense_Mutation_p.R116L|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	248	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R248Q(1145)|p.R248W(513)|p.R248L(145)|p.R248P(35)|p.R155Q(18)|p.R248G(12)|p.N247N(10)|p.R248R(10)|p.0?(8)|p.N247S(7)|p.N247D(5)|p.?(5)|p.N247_R248delNR(4)|p.M246_P250delMNRRP(4)|p.N247T(4)|p.N247I(3)|p.R155L(3)|p.N247Y(3)|p.R248fs*16(3)|p.N247_P250delNRRP(2)|p.N247_R248>KW(2)|p.R155P(2)|p.R248_P250delRRP(2)|p.N247_R249delNRR(2)|p.R248C(2)|p.R248fs*97(2)|p.N247_R248>IP(2)|p.N247K(2)|p.unknown(1)|p.R248fs*>39(1)|p.N247F(1)|p.R249fs*96(1)|p.R248Y(1)|p.G245fs*14(1)|p.N247fs*98(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GATGGGCCTCCGGTTCATGCC	0.572	R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)		
COPS3	8533	broad.mit.edu	37	17	17163668	17163668	+	Missense_Mutation	SNP	C	C	A			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr17:17163668C>A	uc002grd.3	-	7	1000	c.883G>T	c.(883-885)Gtg>Ttg	p.V295L	COPS3_uc010vwv.2_Missense_Mutation_p.V275L|COPS3_uc010vww.2_Missense_Mutation_p.V165L	NM_003653	NP_001186054	Q9UNS2	CSN3_HUMAN	Homo sapiens COP9 constitutive photomorphogenic homolog subunit 3 (Arabidopsis) (COPS3), transcript variant 1, mRNA.	295	PCI.				cullin deneddylation|response to light stimulus|signal transduction	cytoplasm|signalosome	protein binding			NS(1)|large_intestine(3)|lung(6)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	13						CATTGCTTCACCAGCCCCATG	0.488												
NF1	4763	broad.mit.edu	37	17	29497003	29497003	+	Nonsense_Mutation	SNP	C	C	T			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr17:29497003C>T	uc002hgg.3	+	4	957	c.574C>T	c.(574-576)Cga>Tga	p.R192*	NF1_uc002hge.2_Nonsense_Mutation_p.R192*|NF1_uc002hgf.2_Nonsense_Mutation_p.R192*|NF1_uc002hgh.3_Nonsense_Mutation_p.R192*|NF1_uc010csn.2_Intron	NM_001042492	NP_001035957	P21359	NF1_HUMAN	Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.	192					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.R192*(4)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		AAAATTAAAACGACTCCTGAA	0.284			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)		
CCL4	6351	broad.mit.edu	37	17	34432024	34432024	+	Silent	SNP	G	G	A			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr17:34432024G>A	uc002hkw.1	+	1	259	c.180G>A	c.(178-180)caG>caA	p.Q60Q	CCL4_uc002hkx.1_Intron	NM_002984	NP_002975	P13236	CCL4_HUMAN	Homo sapiens chemokine (C-C motif) ligand 4 (CCL4), transcript variant 1, mRNA.	60					cell adhesion|cell-cell signaling|cellular component movement|chemotaxis|establishment or maintenance of cell polarity|immune response|inflammatory response|response to virus|viral genome replication	extracellular space	chemokine activity|receptor signaling protein tyrosine kinase activity			endometrium(1)|large_intestine(1)|lung(2)	4		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		TCTGCTCCCAGCCAGCTGTGG	0.572												
GH1	2688	broad.mit.edu	37	17	61995751	61995751	+	Silent	SNP	G	G	A			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr17:61995751G>A	uc002jdj.3	-	1	188	c.126C>T	c.(124-126)cgC>cgT	p.R42R	GH1_uc002jdi.3_Silent_p.R42R|GH1_uc002jdk.3_Silent_p.R42R|GH1_uc002jdl.3_Silent_p.R42R|GH1_uc002jdm.3_Intron|GH1_uc002jdn.3_Silent_p.R42R	NM_000515	NP_000506	P01241	SOMA_HUMAN	Homo sapiens growth hormone 1 (GH1), transcript variant 1, mRNA.	42			R -> C (in IGHD1B; reduced secretion).		glucose transport|growth hormone receptor signaling pathway|JAK-STAT cascade|positive regulation of activation of JAK2 kinase activity|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of MAP kinase activity|positive regulation of multicellular organism growth|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|response to estradiol stimulus	extracellular space	growth factor activity|growth hormone receptor binding|hormone activity|metal ion binding|prolactin receptor binding	p.R42R(2)		breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)	19						GACGATGGGCGCGGAGCATAG	0.582												
LAMA1	284217	broad.mit.edu	37	18	7009321	7009321	+	Silent	SNP	C	C	T			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr18:7009321C>T	uc002knm.3	-	26	4012	c.3918G>A	c.(3916-3918)acG>acA	p.T1306T	LAMA1_uc010wzj.2_Silent_p.T782T	NM_005559	NP_005550	P25391	LAMA1_HUMAN	Homo sapiens laminin, alpha 1 (LAMA1), mRNA.	1306	Laminin IV type A 2.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AATCCTCTCGCGTGACAGGTT	0.403												
ONECUT2	9480	broad.mit.edu	37	18	55143729	55143729	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr18:55143729G>A	uc002lgo.3	+	1	1321	c.1289G>A	c.(1288-1290)cGc>cAc	p.R430H		NM_004852	NP_004843	O95948	ONEC2_HUMAN	Homo sapiens one cut homeobox 2 (ONECUT2), mRNA.	430					organ morphogenesis	nucleus	sequence-specific DNA binding	p.R430H(4)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(4)|ovary(2)|skin(1)	15		Colorectal(73;0.234)		READ - Rectum adenocarcinoma(59;0.227)|Colorectal(16;0.245)		AAGAAGTCCCGCCTGGTGTTC	0.517												
MATK	4145	broad.mit.edu	37	19	3779708	3779708	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr19:3779708G>A	uc002lyt.3	-	8	1230	c.830C>T	c.(829-831)aCg>aTg	p.T277M	MATK_uc002lyv.3_Missense_Mutation_p.T278M|MATK_uc002lyu.3_Missense_Mutation_p.T236M|MATK_uc010dtq.3_Missense_Mutation_p.T277M|JA611290_uc021umx.1_5'Flank	NM_139355	NP_647611	P42679	MATK_HUMAN	Homo sapiens megakaryocyte-associated tyrosine kinase (MATK), transcript variant 1, mRNA.	277	Protein kinase.				cell proliferation|mesoderm development|positive regulation of cell proliferation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1)	26		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		CATGACGGCCGTCTCGTCCAG	0.677												
TUBB4A	10382	broad.mit.edu	37	19	6495224	6495224	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr19:6495224G>A	uc002mfg.1	-	3	1393	c.1286C>T	c.(1285-1287)aCg>aTg	p.T429M	TUBB4A_uc002mff.1_Missense_Mutation_p.T357M|JA429441_uc021unq.1_5'Flank	NM_006087	NP_006078	P04350	TBB4_HUMAN	Homo sapiens tubulin, beta 4A class IVa (TUBB4A), mRNA.	429					'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity										CTCCTCGGCCGTGGCGTCCTG	0.622												
ZNF536	9745	broad.mit.edu	37	19	31039823	31039823	+	Silent	SNP	C	C	T			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr19:31039823C>T	uc002nsu.1	+	3	3435	c.3297C>T	c.(3295-3297)caC>caT	p.H1099H	ZNF536_uc010edd.1_Silent_p.H1099H	NM_014717	NP_055532	O15090	ZN536_HUMAN	Homo sapiens zinc finger protein 536 (ZNF536), mRNA.	1099					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					GGACCGGCCACGTGGACCCTG	0.542												
ZNF181	339318	broad.mit.edu	37	19	35232341	35232341	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr19:35232341G>A	uc002nvu.3	+	3	1518	c.1055G>A	c.(1054-1056)cGt>cAt	p.R352H	ZNF181_uc010xsb.1_Missense_Mutation_p.R351H|ZNF181_uc010xsc.1_Missense_Mutation_p.R287H	NM_001029997	NP_001025168	Q2M3W8	ZN181_HUMAN	Homo sapiens zinc finger protein 181 (ZNF181), transcript variant 1, mRNA.	352					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(1)	22	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)			TATGAGTGTCGTATATGTGGA	0.373												
ZNF345	25850	broad.mit.edu	37	19	37367974	37367974	+	Missense_Mutation	SNP	A	A	G			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr19:37367974A>G	uc002oex.3	+	2	623	c.242A>G	c.(241-243)cAg>cGg	p.Q81R	ZNF345_uc021utn.1_Missense_Mutation_p.Q81R|ZNF345_uc002oey.4_Missense_Mutation_p.Q81R|ZNF345_uc002oez.2_Intron|ZNF345_uc021uto.1_Missense_Mutation_p.Q81R|ZNF345_uc021utp.1_Missense_Mutation_p.Q81R|ZNF345_uc021utq.1_Missense_Mutation_p.Q81R	NM_003419	NP_003410	Q14585	ZN345_HUMAN	Homo sapiens zinc finger protein 345 (ZNF345), transcript variant 1, mRNA.	81					negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|ovary(2)|prostate(1)	24	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GTTCGACATCAGCGAATTCAT	0.398												
SLC17A7	57030	broad.mit.edu	37	19	49937876	49937876	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr19:49937876G>A	uc002pnp.3	-	4	792	c.620C>T	c.(619-621)gCg>gTg	p.A207V	SLC17A7_uc002pnq.1_Missense_Mutation_p.A140V|SLC17A7_uc002pno.3_5'UTR	NM_020309	NP_064705	Q9P2U7	VGLU1_HUMAN	Homo sapiens solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 7 (SLC17A7), mRNA.	207					glutamate secretion|neurotransmitter secretion	cell junction|clathrin sculpted glutamate transport vesicle membrane|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|sodium-dependent phosphate transmembrane transporter activity|sodium:inorganic phosphate symporter activity	p.A207A(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	26		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(486;0.0245)		GGCTGTCGTCGCCAGGCGACT	0.602												
PXDN	7837	broad.mit.edu	37	2	1652977	1652977	+	Missense_Mutation	SNP	A	A	C			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr2:1652977A>C	uc002qxa.3	-	16	2639	c.2575T>G	c.(2575-2577)Tct>Gct	p.S859A		NM_012293	NP_036425	Q92626	PXDN_HUMAN	Homo sapiens peroxidasin homolog (Drosophila) (PXDN), mRNA.	859					extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		ATCATGACAGAGAAGCAGGGG	0.667												
TTN	7273	broad.mit.edu	37	2	179496982	179496982	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr2:179496982C>T	uc021vsy.1	-	184	36160	c.35935G>A	c.(35935-35937)Gaa>Aaa	p.E11979K	MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Missense_Mutation_p.E5674K|TTN_uc021vta.1_Missense_Mutation_p.E5607K|TTN_uc021vtb.1_Missense_Mutation_p.E5482K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	12906	Pro-rich.						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)			GTTTTCCCTTCGTCTTGCATT	0.433												
TTN	7273	broad.mit.edu	37	2	179497281	179497281	+	Silent	SNP	C	C	T			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr2:179497281C>T	uc021vsy.1	-	183	35973	c.35748G>A	c.(35746-35748)aaG>aaA	p.K11916K	MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Silent_p.K5611K|TTN_uc021vta.1_Silent_p.K5544K|TTN_uc021vtb.1_Silent_p.K5419K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	12843	Glu-rich.|Pro-rich.						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)			CACTTGTGTGCTTATCTTCAG	0.328												
TTN	7273	broad.mit.edu	37	2	179647563	179647563	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr2:179647563C>T	uc021vsy.1	-	17	3295	c.3070G>A	c.(3070-3072)Gtc>Atc	p.V1024I	TTN_uc021vsz.1_Missense_Mutation_p.V978I|TTN_uc021vta.1_Missense_Mutation_p.V978I|TTN_uc021vtb.1_Missense_Mutation_p.V978I|TTN_uc002unb.2_Missense_Mutation_p.V1024I	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	1024	Ig-like 3.						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)			GATGTGCTGACGGTTCCAGCC	0.498												
MYO1B	4430	broad.mit.edu	37	2	192278803	192278803	+	Missense_Mutation	SNP	T	T	C			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr2:192278803T>C	uc010fsg.2	+	27	3158	c.2903T>C	c.(2902-2904)cTg>cCg	p.L968P	MYO1B_uc002usq.2_Missense_Mutation_p.L910P|MYO1B_uc002usr.2_Missense_Mutation_p.L968P|MYO1B_uc002usu.2_Missense_Mutation_p.L213P	NM_001130158	NP_001155291	O43795	MYO1B_HUMAN	Homo sapiens myosin IB (MYO1B), transcript variant 1, mRNA.	968						myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|central_nervous_system(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(19)|ovary(1)	55			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)			GGGGCTTACCTGGAAATCAAC	0.373												
HNF4A	3172	broad.mit.edu	37	20	43034798	43034798	+	Silent	SNP	C	C	T			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr20:43034798C>T	uc002xma.3	+	1	305	c.216C>T	c.(214-216)taC>taT	p.Y72Y	HNF4A_uc010zwo.1_Missense_Mutation_p.T63M|HNF4A_uc002xlt.3_Silent_p.Y50Y|HNF4A_uc002xlu.3_Silent_p.Y50Y|HNF4A_uc002xlv.3_Silent_p.Y50Y|HNF4A_uc002xly.3_Silent_p.Y72Y|HNF4A_uc010ggq.3_Silent_p.Y65Y|HNF4A_uc002xlz.3_Silent_p.Y72Y|MIR3646_uc021wed.1_5'Flank	NM_000457	NP_000448	P41235	HNF4A_HUMAN	Homo sapiens hepatocyte nuclear factor 4, alpha (HNF4A), transcript variant 2, mRNA.	72					blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process	cytoplasm	activating transcription factor binding|protein homodimerization activity|receptor binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	34		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			GCAAACACTACGGTGCCTCGA	0.622												
ABCG1	9619	broad.mit.edu	37	21	43716431	43716431	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr21:43716431G>A	uc011aev.2	+	14	2073	c.1999G>A	c.(1999-2001)Ggg>Agg	p.G667R	ABCG1_uc002zam.3_Missense_Mutation_p.G622R|ABCG1_uc002zan.3_Missense_Mutation_p.G646R|ABCG1_uc002zao.3_Missense_Mutation_p.G641R|ABCG1_uc002zap.3_Missense_Mutation_p.G644R|ABCG1_uc002zaq.3_Missense_Mutation_p.G656R|ABCG1_uc002zar.3_Missense_Mutation_p.G655R|AL355711_uc002zau.3_5'Flank	NM_004915	NP_004906	P45844	ABCG1_HUMAN	Homo sapiens ATP-binding cassette, sub-family G (WHITE), member 1 (ABCG1), transcript variant 4, mRNA.	656	ABC transmembrane type-2.				amyloid precursor protein catabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|detection of hormone stimulus|high-density lipoprotein particle remodeling|intracellular cholesterol transport|lipoprotein metabolic process|low-density lipoprotein particle remodeling|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|positive regulation of cholesterol biosynthetic process|regulation of cholesterol esterification|regulation of transcription, DNA-dependent|response to lipid|reverse cholesterol transport	endoplasmic reticulum membrane|external side of plasma membrane|Golgi membrane|recycling endosome	ADP binding|ATP binding|cholesterol transporter activity|glycoprotein transporter activity|phospholipid transporter activity|protein heterodimerization activity|protein homodimerization activity|sterol-transporting ATPase activity|toxin transporter activity			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(3)|prostate(2)|stomach(1)	29					Adenosine triphosphate(DB00171)	CATCGTACTCGGGATTTTCTT	0.522												
HPS4	89781	broad.mit.edu	37	22	26860320	26860320	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr22:26860320G>A	uc003acl.3	-	10	1935	c.1276C>T	c.(1276-1278)Cgc>Tgc	p.R426C	HPS4_uc003aci.3_Missense_Mutation_p.R421C|HPS4_uc003acj.3_Missense_Mutation_p.R290C|HPS4_uc003ack.3_Missense_Mutation_p.R217C|HPS4_uc003acn.3_Missense_Mutation_p.R272C|HPS4_uc010gvd.1_Missense_Mutation_p.R444C|HPS4_uc003ach.3_Missense_Mutation_p.R161C	NM_022081	NP_071364	Q9NQG7	HPS4_HUMAN	Homo sapiens Hermansky-Pudlak syndrome 4 (HPS4), transcript variant 1, mRNA.	426					lysosome organization|positive regulation of eye pigmentation|protein stabilization|protein targeting	lysosome|melanosome|membrane fraction|platelet dense granule	protein homodimerization activity			breast(2)|endometrium(3)|kidney(5)|large_intestine(4)|lung(12)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	32						GAGGGAGGGCGCAAGCTGCTG	0.622									Hermansky-Pudlak syndrome			
PANX2	56666	broad.mit.edu	37	22	50617533	50617533	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr22:50617533G>A	uc003bjn.4	+	2	1861	c.1861G>A	c.(1861-1863)Gcc>Acc	p.A621T	PANX2_uc003bjp.4_Missense_Mutation_p.A487T|PANX2_uc003bjo.4_Missense_Mutation_p.A621T	NM_052839	NP_443071	Q96RD6	PANX2_HUMAN	Homo sapiens pannexin 2 (PANX2), transcript variant 1, mRNA.	621					protein hexamerization|synaptic transmission	gap junction|integral to membrane	gap junction hemi-channel activity|ion channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(1)|skin(1)	7		all_cancers(38;1.14e-10)|all_epithelial(38;2.12e-09)|all_lung(38;7.01e-05)|Breast(42;0.000523)|Lung NSC(38;0.0018)|Ovarian(80;0.0365)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.105)		GAGCCGAAACGCCACACACCC	0.711												
QARS	5859	broad.mit.edu	37	3	49136953	49136953	+	Missense_Mutation	SNP	C	C	A			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr3:49136953C>A	uc003cvx.3	-	15	1521	c.1516G>T	c.(1516-1518)Ggt>Tgt	p.G506C	QARS_uc011bcc.2_5'Flank|QARS_uc011bcd.2_Missense_Mutation_p.G361C|QARS_uc003cvy.3_Missense_Mutation_p.G361C|QARS_uc011bce.2_Missense_Mutation_p.G495C	NM_005051	NP_005042	P47897	SYQ_HUMAN	Homo sapiens glutaminyl-tRNA synthetase (QARS), mRNA.	506					glutaminyl-tRNA aminoacylation	cytosol|mitochondrial matrix	ATP binding|glutamine-tRNA ligase activity|protein binding			breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	L-Glutamine(DB00130)	CGCACAGCACCAGTTGCTACA	0.527												
EPHA6	285220	broad.mit.edu	37	3	96945145	96945145	+	Missense_Mutation	SNP	C	C	A			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr3:96945145C>A	uc010how.1	+	3	1195	c.1152C>A	c.(1150-1152)aaC>aaA	p.N384K	EPHA6_uc003drp.1_Missense_Mutation_p.N384K	NM_001080448	NP_001073917	Q9UF33	EPHA6_HUMAN	Homo sapiens EPH receptor A6 (EPHA6), transcript variant 1, mRNA.	289	Fibronectin type-III 1.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						TTGCTGGGAACACAAAATGTT	0.358												
HCN1	348980	broad.mit.edu	37	5	45262329	45262329	+	Silent	SNP	C	C	T			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr5:45262329C>T	uc003jok.3	-	7	2392	c.2367G>A	c.(2365-2367)tcG>tcA	p.S789S		NM_021072	NP_066550	O60741	HCN1_HUMAN	Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 1 (HCN1), mRNA.	789				S -> W (in Ref. 2; AAC39759).		integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	p.S789L(1)		NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						GCGAGGGCTGCGAGGCGGAGA	0.627												
GPR98	84059	broad.mit.edu	37	5	89986756	89986756	+	Silent	SNP	C	C	T			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr5:89986756C>T	uc003kju.3	+	30	6945	c.6849C>T	c.(6847-6849)ggC>ggT	p.G2283G	GPR98_uc003kjt.3_Missense_Mutation_p.A17V|GPR98_uc003kjv.3_5'Flank	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	2283	Calx-beta 16.				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			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)		TTGCTACTGGCGACCTGCGAG	0.493												
PCDHAC2	56138	broad.mit.edu	37	5	140249736	140249736	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr5:140249736G>A	uc003lia.2	+	0	1906	c.1048G>A	c.(1048-1050)Gcc>Acc	p.A350T	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc011dae.2_Missense_Mutation_p.A350T	NM_018902	NP_061725	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 11 (PCDHA11), transcript variant 1, mRNA.	366	Cadherin 3.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.A350T(1)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCTGAAGTCGCCGTGACTTC	0.547												
PCDHB4	56131	broad.mit.edu	37	5	140503426	140503426	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr5:140503426G>A	uc003lip.1	+	0	1846	c.1846G>A	c.(1846-1848)Gtg>Atg	p.V616M		NM_018938	NP_061761	Q9Y5E5	PCDB4_HUMAN	Homo sapiens protocadherin beta 4 (PCDHB4), mRNA.	616	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCTGTTCGGCGTGTGGGCGCA	0.677												
PDGFRB	5159	broad.mit.edu	37	5	149504343	149504343	+	Missense_Mutation	SNP	T	T	A			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr5:149504343T>A	uc003lro.3	-	12	2328	c.1859A>T	c.(1858-1860)cAt>cTt	p.H620L	PDGFRB_uc010jhd.3_Missense_Mutation_p.H459L	NM_002609	NP_002600	P09619	PGFRB_HUMAN	Homo sapiens platelet-derived growth factor receptor, beta polypeptide (PDGFRB), mRNA.	620	Protein kinase.				aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	GCTCAGGCCATGAGCCGTGGC	0.597			T	"""ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"""	"""MPD, AML, CMML, CML"""							
MSX2	4488	broad.mit.edu	37	5	174152030	174152030	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr5:174152030C>T	uc003mcy.3	+	0	456	c.368C>T	c.(367-369)tCg>tTg	p.S123L		NM_002449	NP_002440	P35548	MSX2_HUMAN	Homo sapiens msh homeobox 2 (MSX2), mRNA.	123					cranial suture morphogenesis|negative regulation of transcription, DNA-dependent|osteoblast differentiation	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	10	Renal(175;0.000159)|Lung NSC(126;0.0196)|all_lung(126;0.0303)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			GGCCGATATTCGCCGCCGCCA	0.677												
F13A1	2162	broad.mit.edu	37	6	6174842	6174842	+	Missense_Mutation	SNP	G	G	A	rs113599940		TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr6:6174842G>A	uc003mwv.3	-	11	1841	c.1718C>T	c.(1717-1719)aCg>aTg	p.T573M	F13A1_uc011dib.2_Missense_Mutation_p.T510M	NM_000129	NP_000120	P00488	F13A_HUMAN	Homo sapiens coagulation factor XIII, A1 polypeptide (F13A1), mRNA.	573					peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	CACGTCGAACGTCTCCTTCTT	0.527												
FTSJD2	23070	broad.mit.edu	37	6	37438827	37438827	+	Silent	SNP	G	G	A	rs146308234		TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr6:37438827G>A	uc003ons.3	+	13	1789	c.1536G>A	c.(1534-1536)gcG>gcA	p.A512A		NM_015050	NP_055865	Q8N1G2	MTR1_HUMAN	Homo sapiens FtsJ methyltransferase domain containing 2 (FTSJD2), mRNA.	512					mRNA capping	cytoplasm|nucleus	mRNA (nucleoside-2'-O-)-methyltransferase activity|nucleic acid binding			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(6)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(2)	31						AAGCTCTGGCGAAAATCCATG	0.418												
C6orf223	221416	broad.mit.edu	37	6	43970503	43970504	+	In_Frame_Ins	INS	-	-	GCG	rs72369323		TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr6:43970503_43970504insGCG	uc003own.3	+	3	389_390	c.369_370insGCG	c.(367-372)insGCG	p.132_133insA	AK024736_uc003owm.1_Intron|C6orf223_uc003owo.3_3'UTR	NM_153246	NP_694978	Q8N319	CF223_HUMAN	Homo sapiens chromosome 6 open reading frame 223 (C6orf223), transcript variant 1, mRNA.	132	Ala-rich.			A -> AA (in Ref. 2; AAH32706).						central_nervous_system(1)|lung(2)|pancreas(1)|prostate(1)|urinary_tract(1)	6	all_cancers(18;2.28e-07)|all_epithelial(2;1.62e-08)|Lung NSC(15;0.000172)|all_lung(25;0.000533)|Hepatocellular(11;0.00309)|Ovarian(13;0.0437)		all cancers(41;0.00141)|Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.217)			CGGTAGAGCGCgcggcggcggc	0.777												
SNAP91	9892	broad.mit.edu	37	6	84302667	84302667	+	Missense_Mutation	SNP	G	G	T			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr6:84302667G>T	uc021zcf.1	-	18	1874	c.1844C>A	c.(1843-1845)tCt>tAt	p.S615Y	SNAP91_uc011dzd.2_Missense_Mutation_p.S118Y|SNAP91_uc003pka.3_Missense_Mutation_p.S613Y|SNAP91_uc011dze.2_Missense_Mutation_p.S613Y|SNAP91_uc003pkc.3_Missense_Mutation_p.S613Y|SNAP91_uc003pkd.3_Intron|SNAP91_uc003pkb.3_Missense_Mutation_p.S552Y	NM_014841	NP_055656	O60641	AP180_HUMAN	Homo sapiens synaptosomal-associated protein, 91kDa homolog (mouse) (SNAP91), transcript variant 1, mRNA.	615					clathrin coat assembly	clathrin coat|coated pit|plasma membrane	1-phosphatidylinositol binding|clathrin binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0967)		GCACTCACCAGATAAGAGGTC	0.448												
GPRC6A	222545	broad.mit.edu	37	6	117113591	117113591	+	Missense_Mutation	SNP	G	G	T			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr6:117113591G>T	uc003pxj.1	-	5	2517	c.2495C>A	c.(2494-2496)cCc>cAc	p.P832H	GPRC6A_uc003pxk.1_Missense_Mutation_p.P657H|GPRC6A_uc003pxl.1_Missense_Mutation_p.P761H	NM_148963	NP_683766	Q5T6X5	GPC6A_HUMAN	Homo sapiens G protein-coupled receptor, family C, group 6, member A (GPRC6A), mRNA.	832					response to amino acid stimulus		G-protein coupled receptor activity	p.P832H(2)		autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		ATAGCATTTGGGGATGAATGT	0.368												
INTS1	26173	broad.mit.edu	37	7	1538054	1538054	+	Silent	SNP	C	C	T			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr7:1538054C>T	uc003skn.2	-	9	1520	c.1419G>A	c.(1417-1419)gcG>gcA	p.A473A	INTS1_uc003skq.2_Silent_p.A473A	NM_001080453	NP_001073922	Q8N201	INT1_HUMAN	Homo sapiens integrator complex subunit 1 (INTS1), mRNA.	473					snRNA processing	integral to membrane|integrator complex|nuclear membrane				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		CTACCTTGGGCGCCAGCTCTG	0.642												
ESRP1	54845	broad.mit.edu	37	8	95683852	95683852	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr8:95683852G>A	uc003ygq.4	+	10	1588	c.1405G>A	c.(1405-1407)Gcc>Acc	p.A469T	ESRP1_uc003ygr.4_Missense_Mutation_p.A469T|ESRP1_uc003ygs.4_Missense_Mutation_p.A469T|ESRP1_uc003ygt.4_Missense_Mutation_p.A469T|ESRP1_uc003ygu.4_Missense_Mutation_p.A469T|ESRP1_uc003ygv.3_Missense_Mutation_p.A309T|ESRP1_uc003ygw.3_Missense_Mutation_p.A309T	NM_017697	NP_060167	Q6NXG1	ESRP1_HUMAN	Homo sapiens epithelial splicing regulatory protein 1 (ESRP1), transcript variant 1, mRNA.	469	RRM 3.				mRNA processing|regulation of RNA splicing|RNA splicing	nucleus|plasma membrane	mRNA binding|nucleotide binding		ESRP1/RAF1(4)	NS(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(2)	20						GGGGGAGTTCGCCACAGATAT	0.438												
BNC2	54796	broad.mit.edu	37	9	16435990	16435990	+	Silent	SNP	G	G	A			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr9:16435990G>A	uc003zml.3	-	5	2342	c.2202C>T	c.(2200-2202)ggC>ggT	p.G734G	BNC2_uc011lmw.2_Silent_p.G639G|BNC2_uc003zmm.3_Silent_p.G692G|BNC2_uc003zmq.1_Silent_p.G748G|BNC2_uc003zmr.1_Silent_p.G771G|BNC2_uc003zmp.1_Silent_p.G762G|BNC2_uc010mij.1_Silent_p.G656G|BNC2_uc011lmv.2_Silent_p.G560G|BNC2_uc003zmo.1_Silent_p.G656G|BNC2_uc003zmj.3_Silent_p.G499G|BNC2_uc003zmk.3_Non-coding_Transcript|BNC2_uc003zmi.3_Silent_p.G499G|BNC2_uc003zmn.1_Silent_p.G499G	NM_017637	NP_060107	Q6ZN30	BNC2_HUMAN	Homo sapiens basonuclin 2 (BNC2), mRNA.	734					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		TGGATTCCTCGCCCAGTTTGG	0.517												
LINGO2	158038	broad.mit.edu	37	9	27948963	27948963	+	Silent	SNP	C	C	A			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr9:27948963C>A	uc003zqv.1	-	6	2357	c.1707G>T	c.(1705-1707)ggG>ggT	p.G569G	LINGO2_uc010mjf.1_Silent_p.G569G|LINGO2_uc003zqu.1_Silent_p.G569G|LINGO2_uc022bfc.1_Silent_p.G569G	NM_152570	NP_689783	Q7L985	LIGO2_HUMAN	Homo sapiens leucine rich repeat and Ig domain containing 2 (LINGO2), mRNA.	569						integral to membrane				autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		GCTTGCCTTTCCCTCGGCTCC	0.463												
PHF2	5253	broad.mit.edu	37	9	96408031	96408031	+	Silent	SNP	G	G	A			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr9:96408031G>A	uc004aub.3	+	3	567	c.420G>A	c.(418-420)ccG>ccA	p.P140P	PHF2_uc011lug.1_Silent_p.P23P	NM_005392	NP_005383	O75151	PHF2_HUMAN	Homo sapiens PHD finger protein 2 (PHF2), mRNA.	140					liver development|negative regulation of chromatin silencing at rDNA|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K9 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;9.11e-28)		TGGCTGTCCCGGCCCCCACGT	0.627												
OR13C8	138802	broad.mit.edu	37	9	107331658	107331658	+	Silent	SNP	C	C	T			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr9:107331658C>T	uc011lvo.2	+	0	210	c.210C>T	c.(208-210)gaC>gaT	p.D70D		NM_001004483	NP_001004483	Q8NGS7	O13C8_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 8 (OR13C8), mRNA.	70					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.D70Y(1)		NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1)	25						CCTTCCTCGACGTTTGCTACA	0.423												
ZNF79	7633	broad.mit.edu	37	9	130207274	130207274	+	Missense_Mutation	SNP	T	T	C			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr9:130207274T>C	uc004bqw.4	+	4	1709	c.1295T>C	c.(1294-1296)cTc>cCc	p.L432P	ZNF79_uc011maf.2_Missense_Mutation_p.L408P|ZNF79_uc011mag.2_Missense_Mutation_p.L408P	NM_007135	NP_009066	Q15937	ZNF79_HUMAN	Homo sapiens zinc finger protein 79 (ZNF79), mRNA.	432					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|stomach(2)	28						AGCTCAGCCCTCATTCGGCAT	0.443												
MXRA5	25878	broad.mit.edu	37	X	3241682	3241682	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chrX:3241682G>A	uc004crg.4	-	4	2201	c.2044C>T	c.(2044-2046)Cgc>Tgc	p.R682C		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	682						extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GCACCTGGGCGTCTGCCTCTT	0.532												
FRMPD4	9758	broad.mit.edu	37	X	12712508	12712508	+	Missense_Mutation	SNP	G	G	A	rs148666498		TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chrX:12712508G>A	uc004cuz.2	+	8	1374	c.868G>A	c.(868-870)Gtc>Atc	p.V290I	FRMPD4_uc011mij.2_Missense_Mutation_p.V282I	NM_014728	NP_055543	Q14CM0	FRPD4_HUMAN	Homo sapiens FERM and PDZ domain containing 4 (FRMPD4), mRNA.	290	FERM.				positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						AATTAGCTTCGTCCCAAAAGA	0.413												
YY2	404281	broad.mit.edu	37	X	21875300	21875300	+	Missense_Mutation	SNP	A	A	G			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chrX:21875300A>G	uc011mjp.2	+	0	1196	c.698A>G	c.(697-699)aAa>aGa	p.K233R	MBTPS2_uc004dae.3_Intron|MBTPS2_uc010nfr.3_Intron|MBTPS2_uc004dab.2_Intron	NM_206923	NP_996806	O15391	TYY2_HUMAN	Homo sapiens YY2 transcription factor (YY2), mRNA.	233					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|plasma membrane	DNA binding|zinc ion binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(2)	19						TCAGATCCTAAACAGCTGGCA	0.488												
MED12	9968	broad.mit.edu	37	X	70341522	70341523	+	Frame_Shift_Del	DEL	TA	TA	-			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chrX:70341522_70341523delTA	uc004dyy.3	+	6	1156_1157	c.957_958delTA	c.(955-960)gttatafs	p.V319fs	MED12_uc011mpq.1_Frame_Shift_Del_p.V319fs|MED12_uc004dyz.3_Frame_Shift_Del_p.V319fs|MED12_uc004dza.3_Frame_Shift_Del_p.V166fs	NM_005120	NP_005111	Q93074	MED12_HUMAN	Homo sapiens mediator complex subunit 12 (MED12), mRNA.	319					androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					CATCTCATGTTATATCTGCTCA	0.554			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome					
ACRC	93953	broad.mit.edu	37	X	70824283	70824283	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chrX:70824283C>T	uc004eae.2	+	7	1657	c.1156C>T	c.(1156-1158)Cct>Tct	p.P386S	BCYRN1_uc011mpt.1_Intron	NM_052957	NP_443189	Q96QF7	ACRC_HUMAN	Homo sapiens acidic repeat containing (ACRC), mRNA.	386						nucleus				autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1)	54	Renal(35;0.156)					ACCAAGTGATCCTGAGGCTAA	0.498												
DRP2	1821	broad.mit.edu	37	X	100490945	100490945	+	Missense_Mutation	SNP	G	G	C			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chrX:100490945G>C	uc004egz.2	+	3	583	c.214G>C	c.(214-216)Gga>Cga	p.G72R	DRP2_uc011mrh.1_5'UTR	NM_001939	NP_001164655	Q13474	DRP2_HUMAN	Homo sapiens dystrophin related protein 2 (DRP2), transcript variant 1, mRNA.	72					central nervous system development	cytoplasm|cytoskeleton	zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	31						TGGTGCCTCTGGACCCCTGGA	0.522												
TBC1D8B	54885	broad.mit.edu	37	X	106066520	106066521	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chrX:106066520_106066521delAG	uc004emo.3	+	4	816_817	c.651_652delAG	c.(649-654)acagagfs	p.T217fs	MORC4_uc004emp.4_Intron|TBC1D8B_uc004emm.3_Frame_Shift_Del_p.T217fs|TBC1D8B_uc004emn.3_Frame_Shift_Del_p.T217fs	NM_017752	NP_060222	Q0IIM8	TBC8B_HUMAN	Homo sapiens TBC1 domain family, member 8B (with GRAM domain) (TBC1D8B), transcript variant 1, mRNA.	217						intracellular	calcium ion binding|Rab GTPase activator activity	p.E218fs*21(4)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						TCATACTGACAGAGAGTATTCA	0.361												
MID2	11043	broad.mit.edu	37	X	107160962	107160962	+	Silent	SNP	G	G	A			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chrX:107160962G>A	uc004enl.3	+	6	2001	c.1428G>A	c.(1426-1428)gcG>gcA	p.A476A	MID2_uc004enk.3_Intron	NM_012216	NP_036348	Q9UJV3	TRIM1_HUMAN	Homo sapiens midline 2 (MID2), transcript variant 1, mRNA.	476	Fibronectin type-III.					centrosome|microtubule	ligase activity|zinc ion binding	p.A456A(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)	19						TGGCCGGGGCGCCACGAGGCA	0.483												
ZNF75D	7626	broad.mit.edu	37	X	134428042	134428042	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chrX:134428042C>T	uc022ceq.1	-	1	415	c.25G>A	c.(25-27)Gat>Aat	p.D9N	DKFZp451F083_uc004eym.3_Intron|DKFZp451F083_uc022cep.1_Intron|ZNF75D_uc004eyo.3_Missense_Mutation_p.D9N	NM_007131	NP_009062	P51815	ZN75D_HUMAN	Homo sapiens zinc finger protein 75D (ZNF75D), transcript variant 1, mRNA.	9					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.A8T(1)		autonomic_ganglia(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						GAGCATGAATCCGCGTTCAGC	0.478												
PDZD4	57595	broad.mit.edu	37	X	153069697	153069697	+	Missense_Mutation	SNP	C	C	G			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chrX:153069697C>G	uc004fja.1	-	7	1689	c.1439G>C	c.(1438-1440)gGg>gCg	p.G480A	PDZD4_uc004fiy.1_Missense_Mutation_p.G399A|PDZD4_uc004fiz.1_Missense_Mutation_p.G474A|PDZD4_uc004fix.2_Missense_Mutation_p.G378A|PDZD4_uc011mze.1_Missense_Mutation_p.G365A|PDZD4_uc022chy.1_5'Flank	NM_032512	NP_115901	Q76G19	PDZD4_HUMAN	Homo sapiens PDZ domain containing 4 (PDZD4), mRNA.	474						cell cortex		p.T480T(1)		breast(3)|cervix(1)|endometrium(5)|lung(13)|skin(1)	23	all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GCAGCTCTCCCCAGTGTTGTA	0.682