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
ESPNP	284729	broad.mit.edu	37	1	17017734	17017734	+	Missense_Mutation	SNP	C	C	T	rs12561805	by1000genomes	TCGA-06-6390-01A-11D-1696-08	TCGA-06-6390-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04b6bde-63e0-41c9-89f7-07673f9de0f6	6c5cfe7c-84fa-4bfb-84f8-eebe7cb9bc0e	g.chr1:17017734C>T	uc001azn.1	-	10	1994	c.1880G>A	c.(1879-1881)cGg>cAg	p.R627Q						Homo sapiens espin pseudogene (ESPNP), non-coding RNA.																		CAGCTTCTTCCGCAGGAGGTC	0.647												
SLC30A7	148867	broad.mit.edu	37	1	101379278	101379278	+	Missense_Mutation	SNP	G	G	T			TCGA-06-6390-01A-11D-1696-08	TCGA-06-6390-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04b6bde-63e0-41c9-89f7-07673f9de0f6	6c5cfe7c-84fa-4bfb-84f8-eebe7cb9bc0e	g.chr1:101379278G>T	uc001dtn.2	+	5	758	c.571G>T	c.(571-573)Gat>Tat	p.D191Y	SLC30A7_uc001dto.2_Missense_Mutation_p.D191Y	NM_001144884	NP_598003	Q8NEW0	ZNT7_HUMAN	Homo sapiens solute carrier family 30 (zinc transporter), member 7 (SLC30A7), transcript variant 2, mRNA.	191	His-rich loop.				zinc ion transport	Golgi apparatus|integral to membrane	cation transmembrane transporter activity|protein binding			endometrium(3)|large_intestine(2)|lung(10)	15		all_epithelial(167;0.000445)|all_lung(203;0.00645)|Lung NSC(277;0.0119)		Epithelial(280;0.0437)|all cancers(265;0.0498)|COAD - Colon adenocarcinoma(174;0.162)|Colorectal(144;0.19)|Lung(183;0.201)		TGGCCATGTCGATCATTGCCA	0.443												
NPL	80896	broad.mit.edu	37	1	182787959	182787959	+	Missense_Mutation	SNP	T	T	G			TCGA-06-6390-01A-11D-1696-08	TCGA-06-6390-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04b6bde-63e0-41c9-89f7-07673f9de0f6	6c5cfe7c-84fa-4bfb-84f8-eebe7cb9bc0e	g.chr1:182787959T>G	uc009wyb.3	+	9	1046	c.618T>G	c.(616-618)agT>agG	p.S206R	NPL_uc010pnx.2_Intron|NPL_uc010pny.2_Non-coding_Transcript|NPL_uc001gpp.4_Missense_Mutation_p.S206R|NPL_uc021pfz.1_Missense_Mutation_p.S206R|NPL_uc009wyc.3_Intron|NPL_uc001gpo.2_Missense_Mutation_p.S187R	NM_030769	NP_110396	Q9BXD5	NPL_HUMAN	Homo sapiens N-acetylneuraminate pyruvate lyase (dihydrodipicolinate synthase) (NPL), transcript variant 1, mRNA.	206					carbohydrate metabolic process	cytoplasm	N-acetylneuraminate lyase activity			breast(1)|central_nervous_system(1)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|skin(1)|stomach(1)	15						AACTGTTGAGTGCTCTGGTGA	0.393												
AHCTF1	25909	broad.mit.edu	37	1	247024397	247024397	+	Silent	SNP	G	G	A			TCGA-06-6390-01A-11D-1696-08	TCGA-06-6390-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04b6bde-63e0-41c9-89f7-07673f9de0f6	6c5cfe7c-84fa-4bfb-84f8-eebe7cb9bc0e	g.chr1:247024397G>A	uc001ibv.2	-	28	4060	c.3963C>T	c.(3961-3963)atC>atT	p.I1321I	AHCTF1_uc009xgs.1_Silent_p.I173I|AHCTF1_uc001ibw.1_Non-coding_Transcript	NM_015446	NP_056261	Q8WYP5	ELYS_HUMAN	Homo sapiens AT hook containing transcription factor 1 (AHCTF1), mRNA.	1312	Necessary for nuclear localization (By similarity).				cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport	condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm	DNA binding			NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			CATCGGATGTGATTGAAACAC	0.463												
NLRP3	114548	broad.mit.edu	37	1	247586553	247586553	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6390-01A-11D-1696-08	TCGA-06-6390-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04b6bde-63e0-41c9-89f7-07673f9de0f6	6c5cfe7c-84fa-4bfb-84f8-eebe7cb9bc0e	g.chr1:247586553C>T	uc001icr.3	+	3	443	c.305C>T	c.(304-306)tCg>tTg	p.S102L	NLRP3_uc001ics.3_Missense_Mutation_p.S102L|NLRP3_uc001icu.3_Missense_Mutation_p.S102L|NLRP3_uc001icw.3_Missense_Mutation_p.S102L|NLRP3_uc001icv.3_Missense_Mutation_p.S102L|NLRP3_uc010pyw.2_Missense_Mutation_p.S100L|NLRP3_uc001ict.1_Missense_Mutation_p.S100L	NM_001079821	NP_001230062	Q96P20	NALP3_HUMAN	Homo sapiens NLR family, pyrin domain containing 3 (NLRP3), transcript variant 3, mRNA.	102					detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding	p.S102L(2)|p.S102S(1)		NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			GCACGTGTTTCGAATCCCACT	0.403												
OR9I1	219954	broad.mit.edu	37	11	57886023	57886023	+	Missense_Mutation	SNP	T	T	A			TCGA-06-6390-01A-11D-1696-08	TCGA-06-6390-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04b6bde-63e0-41c9-89f7-07673f9de0f6	6c5cfe7c-84fa-4bfb-84f8-eebe7cb9bc0e	g.chr11:57886023T>A	uc001nml.1	-	0	894	c.894A>T	c.(892-894)aaA>aaT	p.K298N	OR9Q1_uc001nmj.3_Intron	NM_001005211	NP_001005211	Q8NGQ6	OR9I1_HUMAN	Homo sapiens olfactory receptor, family 9, subfamily I, member 1 (OR9I1), mRNA.	298					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(2)|liver(1)|lung(15)|pancreas(1)|skin(1)|urinary_tract(1)	23		Breast(21;0.0589)				TGAAGGCGTCTTTTACATCTT	0.438												
C11orf20	25858	broad.mit.edu	37	11	64070987	64070987	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6390-01A-11D-1696-08	TCGA-06-6390-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04b6bde-63e0-41c9-89f7-07673f9de0f6	6c5cfe7c-84fa-4bfb-84f8-eebe7cb9bc0e	g.chr11:64070987C>T	uc009ypm.3	+	2	1451	c.386C>T	c.(385-387)gCg>gTg	p.A129V	KCNK4_uc001nzm.4_Non-coding_Transcript|ESRRA_uc001nzq.1_5'Flank|ESRRA_uc001nzr.1_5'Flank|ESRRA_uc001nzs.1_5'Flank	NM_001039496	NP_001034585	Q9NTU4	CK020_HUMAN	Homo sapiens chromosome 11 open reading frame 20 (C11orf20), mRNA.	129					cell differentiation|spermatogenesis	cytoplasm				kidney(1)	1						CTCAATATTGCGAAGCACATG	0.552												
OR10G8	219869	broad.mit.edu	37	11	123901241	123901243	+	In_Frame_Del	DEL	AGT	AGT	-			TCGA-06-6390-01A-11D-1696-08	TCGA-06-6390-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04b6bde-63e0-41c9-89f7-07673f9de0f6	6c5cfe7c-84fa-4bfb-84f8-eebe7cb9bc0e	g.chr11:123901241_123901243delAGT	uc001pzp.1	+	0	912_914	c.912_914delAGT	c.(910-915)aaagta>aaa	p.V305del		NM_001004464	NP_001004464	Q8NGN5	O10G8_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily G, member 8 (OR10G8), mRNA.	305					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		TGAAAGACAAAGTAGCACATTCT	0.448												
KIRREL3	84623	broad.mit.edu	37	11	126299112	126299112	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6390-01A-11D-1696-08	TCGA-06-6390-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04b6bde-63e0-41c9-89f7-07673f9de0f6	6c5cfe7c-84fa-4bfb-84f8-eebe7cb9bc0e	g.chr11:126299112G>A	uc001qea.3	-	14	2129	c.1768C>T	c.(1768-1770)Cgg>Tgg	p.R590W	KIRREL3_uc001qeb.3_Missense_Mutation_p.R578W|ST3GAL4_uc001qdx.1_Intron	NM_032531	NP_115920	Q8IZU9	KIRR3_HUMAN	Homo sapiens kin of IRRE like 3 (Drosophila) (KIRREL3), transcript variant 1, mRNA.	590					hemopoiesis	extracellular region|integral to membrane|plasma membrane	protein binding	p.R590R(1)|p.R549R(1)		central_nervous_system(1)|endometrium(5)|large_intestine(11)|lung(8)|ovary(3)|prostate(1)	29	all_hematologic(175;0.145)	Lung NSC(97;0.0484)|all_lung(97;0.0522)|Medulloblastoma(222;0.0523)|Breast(109;0.0949)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;6.03e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.12)		TCACCCTCCCGACCAGAGGCT	0.488												
TAS2R20	259295	broad.mit.edu	37	12	11150018	11150018	+	Missense_Mutation	SNP	C	C	G			TCGA-06-6390-01A-11D-1696-08	TCGA-06-6390-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04b6bde-63e0-41c9-89f7-07673f9de0f6	6c5cfe7c-84fa-4bfb-84f8-eebe7cb9bc0e	g.chr12:11150018C>G	uc001qzm.2	-	0	457	c.457G>C	c.(457-459)Gtg>Ctg	p.V153L	PRH1_uc001qzb.4_Intron|TAS2R14_uc021qve.1_Intron|PRH1_uc021qvg.1_Intron|PRB4_uc001qzf.1_Intron|TAS2R14_uc001qzj.3_Intron	NM_176889	NP_795370	P59543	T2R20_HUMAN	Homo sapiens taste receptor, type 2, member 20 (TAS2R20), mRNA.	153					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13						TCTGTCCACACATTTATATAC	0.398												
EPS8	2059	broad.mit.edu	37	12	15807133	15807133	+	Missense_Mutation	SNP	T	T	C			TCGA-06-6390-01A-11D-1696-08	TCGA-06-6390-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04b6bde-63e0-41c9-89f7-07673f9de0f6	6c5cfe7c-84fa-4bfb-84f8-eebe7cb9bc0e	g.chr12:15807133T>C	uc009zif.3	-	12	1290	c.1196A>G	c.(1195-1197)aAt>aGt	p.N399S	EPS8_uc001rdb.3_Missense_Mutation_p.N399S|EPS8_uc009zig.3_Missense_Mutation_p.N139S|EPS8_uc010shv.2_Missense_Mutation_p.N139S	NM_004447	NP_004438	Q12929	EPS8_HUMAN	Homo sapiens epidermal growth factor receptor pathway substrate 8 (EPS8), mRNA.	399	PH; second part.				cell proliferation|epidermal growth factor receptor signaling pathway		SH3/SH2 adaptor activity			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33		all_epithelial(100;1.87e-05)|Breast(259;0.000286)|Hepatocellular(102;0.244)		BRCA - Breast invasive adenocarcinoma(232;4.29e-05)|GBM - Glioblastoma multiforme(207;0.0264)		TTCATCACCATTGACAGTATA	0.418												
PA2G4	5036	broad.mit.edu	37	12	56501039	56501039	+	Missense_Mutation	SNP	A	A	G			TCGA-06-6390-01A-11D-1696-08	TCGA-06-6390-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04b6bde-63e0-41c9-89f7-07673f9de0f6	6c5cfe7c-84fa-4bfb-84f8-eebe7cb9bc0e	g.chr12:56501039A>G	uc001sjm.3	+	4	812	c.393_splice	c.e4+1	p.Q131_splice		NM_006191	NP_006182	Q9UQ80	PA2G4_HUMAN	Homo sapiens proliferation-associated 2G4, 38kDa (PA2G4), mRNA.	131					cell cycle arrest|cell proliferation|negative regulation of transcription, DNA-dependent|regulation of translation|rRNA processing	cytoplasm|nucleolus|ribonucleoprotein complex	DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|ubiquitin protein ligase binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(18;0.0739)			GATGTAGCTCAGGTAGGTGGC	0.488												
USP15	9958	broad.mit.edu	37	12	62778015	62778015	+	Missense_Mutation	SNP	C	C	G			TCGA-06-6390-01A-11D-1696-08	TCGA-06-6390-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04b6bde-63e0-41c9-89f7-07673f9de0f6	6c5cfe7c-84fa-4bfb-84f8-eebe7cb9bc0e	g.chr12:62778015C>G	uc001src.2	+	10	1480	c.1405C>G	c.(1405-1407)Ccc>Gcc	p.P469A	USP15_uc001srb.2_Missense_Mutation_p.P440A	NM_001252078	NP_001239007	Q9Y4E8	UBP15_HUMAN	Homo sapiens ubiquitin specific peptidase 15 (USP15), transcript variant 1, mRNA.	469					protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37			GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)		ACTTCCATTGCCCATGAAAAA	0.348												
NAV3	89795	broad.mit.edu	37	12	78415582	78415582	+	Missense_Mutation	SNP	C	C	G			TCGA-06-6390-01A-11D-1696-08	TCGA-06-6390-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04b6bde-63e0-41c9-89f7-07673f9de0f6	6c5cfe7c-84fa-4bfb-84f8-eebe7cb9bc0e	g.chr12:78415582C>G	uc001syp.3	+	8	2136	c.1963C>G	c.(1963-1965)Cct>Gct	p.P655A	NAV3_uc001syo.3_Missense_Mutation_p.P655A	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN	Homo sapiens neuron navigator 3 (NAV3), mRNA.	655						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	p.S654R(1)		NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						CTGTACCAGTCCTACAAAGAT	0.413										HNSCC(70;0.22)		
TPTE2	93492	broad.mit.edu	37	13	20039678	20039678	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6390-01A-11D-1696-08	TCGA-06-6390-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04b6bde-63e0-41c9-89f7-07673f9de0f6	6c5cfe7c-84fa-4bfb-84f8-eebe7cb9bc0e	g.chr13:20039678C>T	uc001umd.3	-	8	750	c.539G>A	c.(538-540)cGa>cAa	p.R180Q	TPTE2_uc009zzk.3_Non-coding_Transcript|TPTE2_uc009zzl.3_Missense_Mutation_p.R69Q|TPTE2_uc001ume.3_Missense_Mutation_p.R103Q|TPTE2_uc009zzm.3_5'UTR|TPTE2_uc010tcm.2_Non-coding_Transcript	NM_199254	NP_954863	Q6XPS3	TPTE2_HUMAN	Homo sapiens transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 (TPTE2), transcript variant 3, mRNA.	180						endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		AATAATAAGTCGTAGAAGTCG	0.313												
SACS	26278	broad.mit.edu	37	13	23908157	23908157	+	Missense_Mutation	SNP	A	A	C			TCGA-06-6390-01A-11D-1696-08	TCGA-06-6390-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04b6bde-63e0-41c9-89f7-07673f9de0f6	6c5cfe7c-84fa-4bfb-84f8-eebe7cb9bc0e	g.chr13:23908157A>C	uc001uon.2	-	9	10447	c.9858T>G	c.(9856-9858)ttT>ttG	p.F3286L	SACS_uc001uoo.2_Missense_Mutation_p.F3139L|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	Homo sapiens spastic ataxia of Charlevoix-Saguenay (sacsin) (SACS), mRNA.	3286					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		CTGAAACAGTAAACTTTGTTC	0.408												
SPATA13	221178	broad.mit.edu	37	13	24871773	24871773	+	Silent	SNP	C	C	T			TCGA-06-6390-01A-11D-1696-08	TCGA-06-6390-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04b6bde-63e0-41c9-89f7-07673f9de0f6	6c5cfe7c-84fa-4bfb-84f8-eebe7cb9bc0e	g.chr13:24871773C>T	uc001upd.2	+	12	4061	c.3483C>T	c.(3481-3483)gaC>gaT	p.D1161D	SPATA13_uc001upe.3_Non-coding_Transcript|SPATA13_uc021rhg.1_Silent_p.D1161D|SPATA13_uc001upg.2_Silent_p.D536D|SPATA13_uc010tcy.1_Silent_p.D482D|SPATA13_uc010tcz.2_Silent_p.D420D|SPATA13_uc010tdb.2_Silent_p.D396D|SPATA13_uc010tda.2_Silent_p.D480D|SPATA13_uc001uph.3_Silent_p.D458D|SPATA13_uc009zzz.2_Intron|SPATA13_uc001upi.1_Silent_p.D42D	NM_153023	NP_694568	Q96N96	SPT13_HUMAN	Homo sapiens spermatogenesis associated 13 (SPATA13), transcript variant 2, mRNA.	536					cell migration|filopodium assembly|lamellipodium assembly|regulation of cell migration|regulation of Rho protein signal transduction	cytoplasm|filopodium|lamellipodium|ruffle membrane	protein binding|Rac guanyl-nucleotide exchange factor activity			breast(4)|endometrium(2)|large_intestine(9)|lung(4)|ovary(1)|prostate(1)|skin(2)	23		all_cancers(29;4.05e-15)|all_lung(29;2.77e-14)|all_epithelial(30;7.77e-13)|Lung SC(185;0.0279)		all cancers(112;0.00616)|Epithelial(112;0.0195)|OV - Ovarian serous cystadenocarcinoma(117;0.0705)|Lung(94;0.231)		GGACCACAGACGAGGTTTATT	0.532												
SLC46A3	283537	broad.mit.edu	37	13	29287613	29287613	+	Silent	SNP	T	T	A			TCGA-06-6390-01A-11D-1696-08	TCGA-06-6390-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04b6bde-63e0-41c9-89f7-07673f9de0f6	6c5cfe7c-84fa-4bfb-84f8-eebe7cb9bc0e	g.chr13:29287613T>A	uc001usj.3	-	2	806	c.264A>T	c.(262-264)acA>acT	p.T88T	SLC46A3_uc001usg.3_Silent_p.T13T|SLC46A3_uc001usi.3_Silent_p.T88T|SLC46A3_uc001ush.3_Silent_p.T88T|SLC46A3_uc001usk.3_Silent_p.T13T	NM_001135919	NP_001129391	Q7Z3Q1	S46A3_HUMAN	Homo sapiens solute carrier family 46, member 3 (SLC46A3), transcript variant 2, mRNA.	88					transmembrane transport	integral to membrane		p.T88T(3)		central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(2)|prostate(1)|skin(1)	15		Lung SC(185;0.0367)		all cancers(112;0.159)		AAAGTATGAATGTAGACACTA	0.378												
VPS18	57617	broad.mit.edu	37	15	41191638	41191638	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6390-01A-11D-1696-08	TCGA-06-6390-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04b6bde-63e0-41c9-89f7-07673f9de0f6	6c5cfe7c-84fa-4bfb-84f8-eebe7cb9bc0e	g.chr15:41191638C>T	uc001zne.3	+	3	961	c.622C>T	c.(622-624)Ctt>Ttt	p.L208F		NM_020857	NP_065908	Q9P253	VPS18_HUMAN	Homo sapiens vacuolar protein sorting 18 homolog (S. cerevisiae) (VPS18), mRNA.	208					endosome organization|lysosome organization|protein transport	HOPS complex|late endosome membrane|lysosomal membrane	metal ion binding|protein binding			autonomic_ganglia(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	28		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)		TGTGTGCTCCCTTGAGGCCGA	0.617												
UBR1	197131	broad.mit.edu	37	15	43317593	43317593	+	Missense_Mutation	SNP	T	T	C			TCGA-06-6390-01A-11D-1696-08	TCGA-06-6390-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04b6bde-63e0-41c9-89f7-07673f9de0f6	6c5cfe7c-84fa-4bfb-84f8-eebe7cb9bc0e	g.chr15:43317593T>C	uc001zqq.3	-	23	2636	c.2570A>G	c.(2569-2571)gAa>gGa	p.E857G	UBR1_uc010udk.1_Missense_Mutation_p.E857G	NM_174916	NP_777576	Q8IWV7	UBR1_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 1 (UBR1), mRNA.	857					cellular response to leucine|negative regulation of TOR signaling cascade	cytosol	leucine binding|zinc ion binding			NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	58		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)		ATCTTTGTTTTCTTGTTTTCT	0.299												
GABPB1	2553	broad.mit.edu	37	15	50593079	50593079	+	Missense_Mutation	SNP	C	C	T	rs147105901	byFrequency	TCGA-06-6390-01A-11D-1696-08	TCGA-06-6390-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04b6bde-63e0-41c9-89f7-07673f9de0f6	6c5cfe7c-84fa-4bfb-84f8-eebe7cb9bc0e	g.chr15:50593079C>T	uc001zyb.3	-	5	1064	c.640G>A	c.(640-642)Gtt>Att	p.V214I	GABPB1_uc001zya.3_Missense_Mutation_p.V202I|GABPB1_uc010ufg.2_Missense_Mutation_p.V138I|GABPB1_uc001zyd.3_Missense_Mutation_p.V202I|GABPB1_uc001zye.3_Missense_Mutation_p.V214I|GABPB1_uc001zyf.3_Missense_Mutation_p.V202I|GABPB1_uc001zyc.3_Missense_Mutation_p.V202I	NM_005254	NP_005245	Q06547	GABP1_HUMAN	Homo sapiens GA binding protein transcription factor, beta subunit 1 (GABPB1), transcript variant beta-1, mRNA.	214					positive regulation of transcription from RNA polymerase II promoter	nucleus	protein binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			cervix(1)|endometrium(1)|large_intestine(7)|lung(5)	14						CCAAACTGAACAGCAGATACA	0.348												
MEFV	4210	broad.mit.edu	37	16	3299649	3299649	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6390-01A-11D-1696-08	TCGA-06-6390-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04b6bde-63e0-41c9-89f7-07673f9de0f6	6c5cfe7c-84fa-4bfb-84f8-eebe7cb9bc0e	g.chr16:3299649G>A	uc002cun.1	-	2	1082	c.1042C>T	c.(1042-1044)Cgc>Tgc	p.R348C	MEFV_uc021tbw.1_Missense_Mutation_p.R137C|MEFV_uc021tbx.1_Intron|MEFV_uc021tby.1_Intron|MEFV_uc021tbz.1_Intron|MEFV_uc021tca.1_Intron|MEFV_uc021tcb.1_Intron	NM_000243	NP_000234	O15553	MEFV_HUMAN	Homo sapiens Mediterranean fever (MEFV), transcript variant 1, mRNA.	348					inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding	p.R348H(1)		NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50					Colchicine(DB01394)	CCAGGTGAGCGGCTGCCTGAG	0.657												
IL21R	50615	broad.mit.edu	37	16	27460197	27460197	+	Missense_Mutation	SNP	C	C	A			TCGA-06-6390-01A-11D-1696-08	TCGA-06-6390-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04b6bde-63e0-41c9-89f7-07673f9de0f6	6c5cfe7c-84fa-4bfb-84f8-eebe7cb9bc0e	g.chr16:27460197C>A	uc002dor.2	+	9	1824	c.1276C>A	c.(1276-1278)Ctg>Atg	p.L426M	IL21R_uc002doq.2_Missense_Mutation_p.L404M|IL21R_uc002dos.2_Missense_Mutation_p.L404M|LOC283888_uc002dot.3_Non-coding_Transcript	NM_181079	NP_851565	Q9HBE5	IL21R_HUMAN	Homo sapiens interleukin 21 receptor (IL21R), transcript variant 3, mRNA.	404					natural killer cell activation	integral to membrane	interleukin-21 receptor activity			breast(2)|large_intestine(3)|lung(1)|ovary(2)	8						AGCCCTGGACCTGGATGCTGG	0.632			T	BCL6	NHL							
CLEC10A	10462	broad.mit.edu	37	17	6978469	6978469	+	Silent	SNP	G	G	A			TCGA-06-6390-01A-11D-1696-08	TCGA-06-6390-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04b6bde-63e0-41c9-89f7-07673f9de0f6	6c5cfe7c-84fa-4bfb-84f8-eebe7cb9bc0e	g.chr17:6978469G>A	uc002gek.3	-	8	1158	c.855C>T	c.(853-855)ttC>ttT	p.F285F	CLEC10A_uc002gej.3_Silent_p.F261F|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.	285	C-type lectin.				endocytosis|innate immune response	integral to membrane|plasma membrane	sugar binding			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	10						CGTCTGGATGGAAGTGAGCAC	0.627												
DNAH2	146754	broad.mit.edu	37	17	7721011	7721011	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6390-01A-11D-1696-08	TCGA-06-6390-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04b6bde-63e0-41c9-89f7-07673f9de0f6	6c5cfe7c-84fa-4bfb-84f8-eebe7cb9bc0e	g.chr17:7721011G>A	uc002giu.1	+	64	10167	c.10153G>A	c.(10153-10155)Gtc>Atc	p.V3385I	DNAH2_uc010cnm.1_Missense_Mutation_p.V323I	NM_020877	NP_065928	Q9P225	DYH2_HUMAN	Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA.	3385	AAA 5 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TGGCATCATCGTCACCCGAGG	0.597												
MYO15A	51168	broad.mit.edu	37	17	18058720	18058720	+	Silent	SNP	G	G	A			TCGA-06-6390-01A-11D-1696-08	TCGA-06-6390-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04b6bde-63e0-41c9-89f7-07673f9de0f6	6c5cfe7c-84fa-4bfb-84f8-eebe7cb9bc0e	g.chr17:18058720G>A	uc021trm.1	+	45	8652	c.8433G>A	c.(8431-8433)ggG>ggA	p.G2811G	MYO15A_uc021trl.1_Silent_p.G2809G|MYO15A_uc010vxi.2_Silent_p.G75G|MYO15A_uc010vxj.1_Silent_p.G10G|MYO15A_uc010vxk.1_Intron|MYO15A_uc010vxl.1_5'Flank|MYO15A_uc002gsl.3_5'Flank	NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	Homo sapiens myosin XVA (MYO15A), mRNA.	2811	Tail.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					AGGCCGGCGGGCAGCTGCGGG	0.647												
RNF213	57674	broad.mit.edu	37	17	78349658	78349658	+	Frame_Shift_Del	DEL	C	C	-			TCGA-06-6390-01A-11D-1696-08	TCGA-06-6390-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04b6bde-63e0-41c9-89f7-07673f9de0f6	6c5cfe7c-84fa-4bfb-84f8-eebe7cb9bc0e	g.chr17:78349658delC	uc002jyh.2	+	51	13463	c.13320delC	c.(13318-13320)cacfs	p.H4440fs	RNF213_uc021uen.1_Frame_Shift_Del_p.H4391fs|LOC100294362_uc002jyi.2_Intron	NM_020914	NP_065965	Q9HCF4	ALO17_HUMAN	SubName: Full=Uncharacterized protein;	0										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			CAAGCCTCCACCCCACGCCAG	0.473												
TIMM21	29090	broad.mit.edu	37	18	71825425	71825425	+	Missense_Mutation	SNP	G	G	C			TCGA-06-6390-01A-11D-1696-08	TCGA-06-6390-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04b6bde-63e0-41c9-89f7-07673f9de0f6	6c5cfe7c-84fa-4bfb-84f8-eebe7cb9bc0e	g.chr18:71825425G>C	uc010dqr.1	+	4	854	c.556G>C	c.(556-558)Gat>Cat	p.D186H		NM_014177	NP_054896	Q9BVV7	TI21L_HUMAN	Homo sapiens translocase of inner mitochondrial membrane 21 homolog (yeast) (TIMM21), nuclear gene encoding mitochondrial protein, mRNA.	186					protein transport|transmembrane transport	integral to membrane|mitochondrial membrane											ATATGTAAAAGATGGGCTGAA	0.448												
POLRMT	5442	broad.mit.edu	37	19	629657	629657	+	Silent	SNP	G	G	A			TCGA-06-6390-01A-11D-1696-08	TCGA-06-6390-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04b6bde-63e0-41c9-89f7-07673f9de0f6	6c5cfe7c-84fa-4bfb-84f8-eebe7cb9bc0e	g.chr19:629657G>A	uc002lpf.1	-	2	761	c.705C>T	c.(703-705)ctC>ctT	p.L235L		NM_005035	NP_005026	O00411	RPOM_HUMAN	Homo sapiens polymerase (RNA) mitochondrial (DNA directed) (POLRMT), nuclear gene encoding mitochondrial protein, mRNA.	235					transcription initiation from mitochondrial promoter	mitochondrial nucleoid	DNA binding|DNA-directed RNA polymerase activity|protein binding			cervix(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)|prostate(1)|stomach(1)	20		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCTGGTCAGTGAGCAGGCAGC	0.662												
MUC16	94025	broad.mit.edu	37	19	9056794	9056794	+	Missense_Mutation	SNP	A	A	G			TCGA-06-6390-01A-11D-1696-08	TCGA-06-6390-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04b6bde-63e0-41c9-89f7-07673f9de0f6	6c5cfe7c-84fa-4bfb-84f8-eebe7cb9bc0e	g.chr19:9056794A>G	uc002mkp.3	-	2	30856	c.30652T>C	c.(30652-30654)Tca>Cca	p.S10218P		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	10220	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTATACTGTGAGGCTGGAGGC	0.463												
EPS15L1	58513	broad.mit.edu	37	19	16528878	16528878	+	Missense_Mutation	SNP	T	T	C			TCGA-06-6390-01A-11D-1696-08	TCGA-06-6390-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04b6bde-63e0-41c9-89f7-07673f9de0f6	6c5cfe7c-84fa-4bfb-84f8-eebe7cb9bc0e	g.chr19:16528878T>C	uc002ndx.3	-	10	994	c.988A>G	c.(988-990)Aaa>Gaa	p.K330E	EPS15L1_uc002ndy.3_Non-coding_Transcript|EPS15L1_uc010xpe.1_Missense_Mutation_p.K220E|EPS15L1_uc002ndz.1_Missense_Mutation_p.K330E|EPS15L1_uc010xpf.1_Missense_Mutation_p.K233E|EPS15L1_uc002nea.1_Missense_Mutation_p.K330E|EPS15L1_uc010eah.1_Missense_Mutation_p.K330E|EPS15L1_uc002neb.1_Missense_Mutation_p.K176E|EPS15L1_uc002nec.1_Missense_Mutation_p.K330E	NM_021235	NP_067058	Q9UBC2	EP15R_HUMAN	Homo sapiens epidermal growth factor receptor pathway substrate 15-like 1 (EPS15L1), mRNA.	330	EH 3.				endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	coated pit|nucleus|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(4)|skin(2)	30						AATTGGTCTTTGCTTAACTTC	0.547											OREG0025334	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
USHBP1	83878	broad.mit.edu	37	19	17362437	17362437	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6390-01A-11D-1696-08	TCGA-06-6390-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04b6bde-63e0-41c9-89f7-07673f9de0f6	6c5cfe7c-84fa-4bfb-84f8-eebe7cb9bc0e	g.chr19:17362437G>A	uc002nfs.1	-	11	1989	c.1876C>T	c.(1876-1878)Cgg>Tgg	p.R626W	USHBP1_uc002nfr.1_Missense_Mutation_p.R252W|USHBP1_uc002nft.1_Non-coding_Transcript|USHBP1_uc010xpk.1_Missense_Mutation_p.R562W	NM_031941	NP_114147	Q8N6Y0	USBP1_HUMAN	Homo sapiens Usher syndrome 1C binding protein 1 (USHBP1), mRNA.	626							PDZ domain binding	p.R626W(2)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(10)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44						CTCTGAGACCGTCTGGCTCGC	0.607												
MAG	4099	broad.mit.edu	37	19	35786610	35786610	+	Silent	SNP	G	G	A			TCGA-06-6390-01A-11D-1696-08	TCGA-06-6390-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04b6bde-63e0-41c9-89f7-07673f9de0f6	6c5cfe7c-84fa-4bfb-84f8-eebe7cb9bc0e	g.chr19:35786610G>A	uc002nyy.2	+	3	339	c.141G>A	c.(139-141)ccG>ccA	p.P47P	MAG_uc002nyx.2_Silent_p.P47P|MAG_uc010eds.2_Silent_p.P22P|MAG_uc002nyz.2_Silent_p.P47P	NM_002361	NP_001186145	P20916	MAG_HUMAN	Homo sapiens myelin associated glycoprotein (MAG), transcript variant 1, mRNA.	47	Ig-like V-type.				blood coagulation|cell adhesion|leukocyte migration|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane	sugar binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(11)|skin(2)|upper_aerodigestive_tract(2)	34	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			TTGACTTCCCGGATGAGCTGC	0.642												
TTN	7273	broad.mit.edu	37	2	179596192	179596192	+	Silent	SNP	G	G	A			TCGA-06-6390-01A-11D-1696-08	TCGA-06-6390-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04b6bde-63e0-41c9-89f7-07673f9de0f6	6c5cfe7c-84fa-4bfb-84f8-eebe7cb9bc0e	g.chr2:179596192G>A	uc021vsy.1	-	55	13794	c.13569C>T	c.(13567-13569)agC>agT	p.S4523S	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Silent_p.S1184S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	5450	Ig-like 25.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.E4523K(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGATTTCATCGCTGTCTTTTA	0.483												
PRDM15	63977	broad.mit.edu	37	21	43246405	43246405	+	Missense_Mutation	SNP	G	G	A	rs139958739	by1000genomes	TCGA-06-6390-01A-11D-1696-08	TCGA-06-6390-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04b6bde-63e0-41c9-89f7-07673f9de0f6	6c5cfe7c-84fa-4bfb-84f8-eebe7cb9bc0e	g.chr21:43246405G>A	uc002yzq.1	-	19	2749	c.2638C>T	c.(2638-2640)Cgg>Tgg	p.R880W	PRDM15_uc002yzo.3_Missense_Mutation_p.R551W|PRDM15_uc002yzp.3_Missense_Mutation_p.R571W|PRDM15_uc002yzr.1_Missense_Mutation_p.R571W	NM_022115	NP_071398	P57071	PRD15_HUMAN	Homo sapiens PR domain containing 15 (PRDM15), transcript variant 1, mRNA.	880					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						TTCACTCGCCGCACTCCTGAA	0.577												
PIWIL3	440822	broad.mit.edu	37	22	25155854	25155854	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6390-01A-11D-1696-08	TCGA-06-6390-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04b6bde-63e0-41c9-89f7-07673f9de0f6	6c5cfe7c-84fa-4bfb-84f8-eebe7cb9bc0e	g.chr22:25155854C>T	uc003abd.1	-	2	622	c.205G>A	c.(205-207)Gga>Aga	p.G69R	PIWIL3_uc011ajx.1_5'UTR|PIWIL3_uc010gut.1_Missense_Mutation_p.G69R|PIWIL3_uc011ajy.1_5'UTR	NM_001008496	NP_001008496	Q7Z3Z3	PIWL3_HUMAN	Homo sapiens piwi-like 3 (Drosophila) (PIWIL3), transcript variant 1, mRNA.	69					cell differentiation|gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatogenesis	cytoplasm	RNA binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(15)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						TGTGCTCCTCCTCCTGCTCCT	0.582												
QARS	5859	broad.mit.edu	37	3	49142151	49142151	+	Missense_Mutation	SNP	A	A	G			TCGA-06-6390-01A-11D-1696-08	TCGA-06-6390-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04b6bde-63e0-41c9-89f7-07673f9de0f6	6c5cfe7c-84fa-4bfb-84f8-eebe7cb9bc0e	g.chr3:49142151A>G	uc003cvx.3	-	0	21	c.16T>C	c.(16-18)Tcc>Ccc	p.S6P	QARS_uc011bcd.2_5'Flank|QARS_uc003cvy.3_5'UTR|QARS_uc011bce.2_Missense_Mutation_p.S6P|QARS_uc011bcf.1_Missense_Mutation_p.S6P	NM_005051	NP_005042	P47897	SYQ_HUMAN	Homo sapiens glutaminyl-tRNA synthetase (QARS), mRNA.	6					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)	AGCGACAGGGAGTCTAGAGCC	0.602												
UBA7	7318	broad.mit.edu	37	3	49847050	49847050	+	Silent	SNP	C	C	T			TCGA-06-6390-01A-11D-1696-08	TCGA-06-6390-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04b6bde-63e0-41c9-89f7-07673f9de0f6	6c5cfe7c-84fa-4bfb-84f8-eebe7cb9bc0e	g.chr3:49847050C>T	uc003cxr.3	-	15	2184	c.2013G>A	c.(2011-2013)gcG>gcA	p.A671A		NM_003335	NP_003326	P41226	UBA7_HUMAN	Homo sapiens ubiquitin-like modifier activating enzyme 7 (UBA7), mRNA.	671					ISG15-protein conjugation|negative regulation of type I interferon production	cytosol	ATP binding|ISG15 activating enzyme activity|ligase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(15)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;3.58e-06)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		CAAGAGCCCACGCCACACAGT	0.547												
ABCC5	10057	broad.mit.edu	37	3	183677612	183677612	+	Silent	SNP	T	T	C			TCGA-06-6390-01A-11D-1696-08	TCGA-06-6390-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04b6bde-63e0-41c9-89f7-07673f9de0f6	6c5cfe7c-84fa-4bfb-84f8-eebe7cb9bc0e	g.chr3:183677612T>C	uc003fmg.3	-	16	2556	c.2391A>G	c.(2389-2391)aaA>aaG	p.K797K	ABCC5_uc011bqt.2_Silent_p.K325K|ABCC5_uc010hxl.3_Silent_p.K797K	NM_005688	NP_005679	O15440	MRP5_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 5 (ABCC5), transcript variant 1, mRNA.	797						integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			TGGTTTCCTTTTTTGAATTGA	0.363												
ZNF718	152687	broad.mit.edu	37	4	85691	85691	+	Missense_Mutation	SNP	T	T	C			TCGA-06-6390-01A-11D-1696-08	TCGA-06-6390-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04b6bde-63e0-41c9-89f7-07673f9de0f6	6c5cfe7c-84fa-4bfb-84f8-eebe7cb9bc0e	g.chr4:85691T>C	uc003fzv.1	+	3	452	c.296T>C	c.(295-297)aTa>aCa	p.I99T	ZNF718_uc003fzt.4_Intron|ZNF718_uc003fzu.1_Intron|ZNF718_uc011bus.1_5'UTR|ZNF718_uc011but.1_5'UTR	NM_182524	NP_872330	Q3SXZ3	ZN718_HUMAN	Homo sapiens zinc finger protein 595 (ZNF595), mRNA.	99					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding						all_cancers(4;0.0738)|all_epithelial(65;0.139)		Lung(54;0.0681)|Epithelial(2;0.0838)|all cancers(2;0.135)|LUSC - Lung squamous cell carcinoma(95;0.18)		CACAAACTTATACTGAAAAGA	0.353												
FAM193A	8603	broad.mit.edu	37	4	2733554	2733554	+	Missense_Mutation	SNP	T	T	C			TCGA-06-6390-01A-11D-1696-08	TCGA-06-6390-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04b6bde-63e0-41c9-89f7-07673f9de0f6	6c5cfe7c-84fa-4bfb-84f8-eebe7cb9bc0e	g.chr4:2733554T>C	uc010ick.3	+	19	4235	c.4234T>C	c.(4234-4236)Tcc>Ccc	p.S1412P	FAM193A_uc003gfd.3_Missense_Mutation_p.S1212P|FAM193A_uc011bvm.2_Missense_Mutation_p.S1234P|FAM193A_uc011bvn.2_3'UTR|FAM193A_uc010icl.3_Missense_Mutation_p.S1253P|FAM193A_uc011bvo.2_Non-coding_Transcript|FAM193A_uc010icm.3_Non-coding_Transcript	NM_003704	NP_003695	P78312	F193A_HUMAN	Homo sapiens family with sequence similarity 193, member A (FAM193A), mRNA.	1253										NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	40						TATCAACTGGTCCAATTTTAG	0.517												
PRKG2	5593	broad.mit.edu	37	4	82063966	82063966	+	Silent	SNP	C	C	A			TCGA-06-6390-01A-11D-1696-08	TCGA-06-6390-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04b6bde-63e0-41c9-89f7-07673f9de0f6	6c5cfe7c-84fa-4bfb-84f8-eebe7cb9bc0e	g.chr4:82063966C>A	uc003hmh.2	-	9	1402	c.1389G>T	c.(1387-1389)ggG>ggT	p.G463G	PRKG2_uc011ccf.1_Silent_p.G43G|PRKG2_uc011ccg.1_Silent_p.G43G|PRKG2_uc011cch.1_Intron	NM_006259	NP_006250	Q13237	KGP2_HUMAN	Homo sapiens protein kinase, cGMP-dependent, type II (PRKG2), mRNA.	463	Protein kinase.				platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity			NS(1)|breast(4)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	37						CTCTTCCGAACCCACCAACGC	0.428												
FAT1	2195	broad.mit.edu	37	4	187630082	187630082	+	Silent	SNP	G	G	T			TCGA-06-6390-01A-11D-1696-08	TCGA-06-6390-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04b6bde-63e0-41c9-89f7-07673f9de0f6	6c5cfe7c-84fa-4bfb-84f8-eebe7cb9bc0e	g.chr4:187630082G>T	uc003izf.3	-	1	1088	c.900C>A	c.(898-900)ctC>ctA	p.L300L	FAT1_uc010iso.1_Silent_p.L300L	NM_005245	NP_005236	Q14517	FAT1_HUMAN	Homo sapiens FAT tumor suppressor homolog 1 (Drosophila) (FAT1), mRNA.	300					actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TAAACTGCTGGAGAAGGTCAC	0.493										HNSCC(5;0.00058)		
GABRA6	2559	broad.mit.edu	37	5	161119060	161119060	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6390-01A-11D-1696-08	TCGA-06-6390-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04b6bde-63e0-41c9-89f7-07673f9de0f6	6c5cfe7c-84fa-4bfb-84f8-eebe7cb9bc0e	g.chr5:161119060G>A	uc003lyu.2	+	7	1278	c.940G>A	c.(940-942)Gtc>Atc	p.V314I	GABRA6_uc003lyv.2_Missense_Mutation_p.V85I	NM_000811	NP_000802	Q16445	GBRA6_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 6 (GABRA6), mRNA.	314					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity	p.V314I(2)		breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	CTTTGCATTCGTCTTCTCTGC	0.478										TCGA Ovarian(5;0.080)		
ZNF354C	30832	broad.mit.edu	37	5	178506220	178506220	+	Missense_Mutation	SNP	C	C	G			TCGA-06-6390-01A-11D-1696-08	TCGA-06-6390-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04b6bde-63e0-41c9-89f7-07673f9de0f6	6c5cfe7c-84fa-4bfb-84f8-eebe7cb9bc0e	g.chr5:178506220C>G	uc003mju.3	+	4	902	c.787C>G	c.(787-789)Cag>Gag	p.Q263E		NM_014594	NP_055409	Q86Y25	Z354C_HUMAN	Homo sapiens zinc finger protein 354C (ZNF354C), mRNA.	263					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|urinary_tract(3)	30	all_cancers(89;0.00065)|all_epithelial(37;0.000153)|Renal(175;0.000159)|Lung NSC(126;0.00175)|all_lung(126;0.00309)	all_cancers(40;0.19)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.247)		TCTTTCTCATCAGAGAATTCA	0.388												
ZNF354C	30832	broad.mit.edu	37	5	178506472	178506472	+	Missense_Mutation	SNP	C	C	G			TCGA-06-6390-01A-11D-1696-08	TCGA-06-6390-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04b6bde-63e0-41c9-89f7-07673f9de0f6	6c5cfe7c-84fa-4bfb-84f8-eebe7cb9bc0e	g.chr5:178506472C>G	uc003mju.3	+	4	1154	c.1039C>G	c.(1039-1041)Caa>Gaa	p.Q347E		NM_014594	NP_055409	Q86Y25	Z354C_HUMAN	Homo sapiens zinc finger protein 354C (ZNF354C), mRNA.	347					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|urinary_tract(3)	30	all_cancers(89;0.00065)|all_epithelial(37;0.000153)|Renal(175;0.000159)|Lung NSC(126;0.00175)|all_lung(126;0.00309)	all_cancers(40;0.19)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.247)		TCACAGGCATCAAAGAATCCA	0.428												
ZNF354C	30832	broad.mit.edu	37	5	178506565	178506565	+	Missense_Mutation	SNP	C	C	A			TCGA-06-6390-01A-11D-1696-08	TCGA-06-6390-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04b6bde-63e0-41c9-89f7-07673f9de0f6	6c5cfe7c-84fa-4bfb-84f8-eebe7cb9bc0e	g.chr5:178506565C>A	uc003mju.3	+	4	1247	c.1132C>A	c.(1132-1134)Cat>Aat	p.H378N		NM_014594	NP_055409	Q86Y25	Z354C_HUMAN	Homo sapiens zinc finger protein 354C (ZNF354C), mRNA.	378					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|urinary_tract(3)	30	all_cancers(89;0.00065)|all_epithelial(37;0.000153)|Renal(175;0.000159)|Lung NSC(126;0.00175)|all_lung(126;0.00309)	all_cancers(40;0.19)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.247)		TCAGAGGTTTCATACTGGAGA	0.428												
FTSJD2	23070	broad.mit.edu	37	6	37446254	37446254	+	Silent	SNP	G	G	A			TCGA-06-6390-01A-11D-1696-08	TCGA-06-6390-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04b6bde-63e0-41c9-89f7-07673f9de0f6	6c5cfe7c-84fa-4bfb-84f8-eebe7cb9bc0e	g.chr6:37446254G>A	uc003ons.3	+	21	2476	c.2223G>A	c.(2221-2223)cgG>cgA	p.R741R		NM_015050	NP_055865	Q8N1G2	MTR1_HUMAN	Homo sapiens FtsJ methyltransferase domain containing 2 (FTSJD2), mRNA.	741	Interaction with POLR2A.				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						GTGATGACCGGCACTTTGTAC	0.587												
IGFBP1	3484	broad.mit.edu	37	7	45930223	45930223	+	Silent	SNP	C	C	T			TCGA-06-6390-01A-11D-1696-08	TCGA-06-6390-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04b6bde-63e0-41c9-89f7-07673f9de0f6	6c5cfe7c-84fa-4bfb-84f8-eebe7cb9bc0e	g.chr7:45930223C>T	uc003tnp.3	+	1	719	c.426C>T	c.(424-426)gcC>gcT	p.A142A		NM_000596	NP_000587	P08833	IBP1_HUMAN	Homo sapiens insulin-like growth factor binding protein 1 (IGFBP1), mRNA.	142						extracellular space	insulin-like growth factor binding			large_intestine(2)|lung(4)	6						ATCTGATGGCCCCTTCTGAAG	0.517											OREG0018048	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
SEPT14	346288	broad.mit.edu	37	7	55910809	55910809	+	Missense_Mutation	SNP	T	T	C			TCGA-06-6390-01A-11D-1696-08	TCGA-06-6390-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04b6bde-63e0-41c9-89f7-07673f9de0f6	6c5cfe7c-84fa-4bfb-84f8-eebe7cb9bc0e	g.chr7:55910809T>C	uc003tqz.2	-	4	501	c.384A>G	c.(382-384)atA>atG	p.I128M		NM_207366	NP_997249	Q6ZU15	SEP14_HUMAN	Homo sapiens septin 14 (SEPT14), mRNA.	128					cell cycle|cell division	septin complex	GTP binding|protein binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|skin(2)	23	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			TGTAGTCAACTATTGGTTGGT	0.358												
KIAA1324L	222223	broad.mit.edu	37	7	86526910	86526910	+	Missense_Mutation	SNP	T	T	C			TCGA-06-6390-01A-11D-1696-08	TCGA-06-6390-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04b6bde-63e0-41c9-89f7-07673f9de0f6	6c5cfe7c-84fa-4bfb-84f8-eebe7cb9bc0e	g.chr7:86526910T>C	uc011kha.2	-	18	2782	c.2597A>G	c.(2596-2598)tAt>tGt	p.Y866C	KIAA1324L_uc003uie.3_Missense_Mutation_p.Y699C|KIAA1324L_uc011kgz.2_Missense_Mutation_p.Y752C|KIAA1324L_uc003uif.2_Missense_Mutation_p.Y618C	NM_001142749	NP_001136221	A8MWY0	K132L_HUMAN	Homo sapiens KIAA1324-like (KIAA1324L), transcript variant 1, mRNA.	866						integral to membrane				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44	Esophageal squamous(14;0.0058)					CCACAGGAAATAGAACGTACA	0.453												
LY96	23643	broad.mit.edu	37	8	74941281	74941281	+	Missense_Mutation	SNP	T	T	C			TCGA-06-6390-01A-11D-1696-08	TCGA-06-6390-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04b6bde-63e0-41c9-89f7-07673f9de0f6	6c5cfe7c-84fa-4bfb-84f8-eebe7cb9bc0e	g.chr8:74941281T>C	uc003yad.3	+	4	589	c.475T>C	c.(475-477)Tca>Cca	p.S159P	LY96_uc022awb.1_Missense_Mutation_p.S129P	NM_015364	NP_056179	Q9Y6Y9	LY96_HUMAN	Homo sapiens lymphocyte antigen 96 (LY96), transcript variant 1, mRNA.	159					cellular defense response|detection of lipopolysaccharide|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	extracellular space|lipopolysaccharide receptor complex|plasma membrane	coreceptor activity|lipopolysaccharide receptor activity|protein binding			endometrium(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	5	Breast(64;0.0311)		Epithelial(68;0.0208)|BRCA - Breast invasive adenocarcinoma(89;0.0499)|all cancers(69;0.0619)			CCAACCTAATTCAAATTAGAA	0.323												
RUNX1T1	862	broad.mit.edu	37	8	93017373	93017373	+	Silent	SNP	G	G	A			TCGA-06-6390-01A-11D-1696-08	TCGA-06-6390-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04b6bde-63e0-41c9-89f7-07673f9de0f6	6c5cfe7c-84fa-4bfb-84f8-eebe7cb9bc0e	g.chr8:93017373G>A	uc022axs.1	-	5	1075	c.888C>T	c.(886-888)aaC>aaT	p.N296N	RUNX1T1_uc003yfc.2_Silent_p.N210N|RUNX1T1_uc010mam.3_Silent_p.N210N|RUNX1T1_uc003yfe.2_Silent_p.N200N|RUNX1T1_uc003yfd.3_Silent_p.N237N|RUNX1T1_uc022axo.1_Silent_p.N237N|RUNX1T1_uc010mao.3_Silent_p.N210N|RUNX1T1_uc011lgi.2_Silent_p.N248N|RUNX1T1_uc022axp.1_Silent_p.N237N|RUNX1T1_uc022axq.1_Silent_p.N237N|RUNX1T1_uc022axr.1_Silent_p.N237N|RUNX1T1_uc022axt.1_Silent_p.N237N|RUNX1T1_uc022axu.1_Silent_p.N217N|RUNX1T1_uc022axv.1_Silent_p.N237N|RUNX1T1_uc003yfb.2_Silent_p.N200N|RUNX1T1_uc003yff.1_Silent_p.N200N	NM_001198679	NP_001185608	Q06455	MTG8_HUMAN	Homo sapiens runt-related transcription factor 1; translocated to, 1 (cyclin D-related) (RUNX1T1), transcript variant 15, mRNA.	237	Poly-Pro.				generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			TCCCGTTTTCGTTCACATCGA	0.537												
DENND3	22898	broad.mit.edu	37	8	142186755	142186755	+	Silent	SNP	G	G	A			TCGA-06-6390-01A-11D-1696-08	TCGA-06-6390-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04b6bde-63e0-41c9-89f7-07673f9de0f6	6c5cfe7c-84fa-4bfb-84f8-eebe7cb9bc0e	g.chr8:142186755G>A	uc003yvy.3	+	14	2639	c.2361G>A	c.(2359-2361)gcG>gcA	p.A787A	DENND3_uc010mep.3_Silent_p.A748A	NM_014957	NP_055772	A2RUS2	DEND3_HUMAN	Homo sapiens DENN/MADD domain containing 3 (DENND3), mRNA.	787										breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			TCAGAGTGGCGTCCAAGAAAG	0.483												
EPPK1	83481	broad.mit.edu	37	8	144945189	144945189	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6390-01A-11D-1696-08	TCGA-06-6390-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04b6bde-63e0-41c9-89f7-07673f9de0f6	6c5cfe7c-84fa-4bfb-84f8-eebe7cb9bc0e	g.chr8:144945189G>A	uc003zaa.1	-	0	2246	c.2233C>T	c.(2233-2235)Cgg>Tgg	p.R745W		NM_031308	NP_112598	P58107	EPIPL_HUMAN	Homo sapiens epiplakin 1 (EPPK1), mRNA.	745						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TAGCCGCGCCGGTAGGCCACG	0.652												
SH3GL2	6456	broad.mit.edu	37	9	17791242	17791242	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6390-01A-11D-1696-08	TCGA-06-6390-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04b6bde-63e0-41c9-89f7-07673f9de0f6	6c5cfe7c-84fa-4bfb-84f8-eebe7cb9bc0e	g.chr9:17791242G>A	uc003zna.3	+	6	926	c.638G>A	c.(637-639)aGc>aAc	p.S213N	SH3GL2_uc011lmy.2_Missense_Mutation_p.S166N	NM_003026	NP_003017	Q99962	SH3G2_HUMAN	Homo sapiens SH3-domain GRB2-like 2 (SH3GL2), mRNA.	213	BAR.				axon guidance|central nervous system development|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport	cytosol|Golgi membrane|plasma membrane	identical protein binding|lipid binding			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(50;2.71e-10)|Lung(42;0.203)		GAACAAGTGAGCCAGCTCTCT	0.478												
CYLC2	1539	broad.mit.edu	37	9	105767006	105767006	+	Silent	SNP	T	T	C			TCGA-06-6390-01A-11D-1696-08	TCGA-06-6390-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04b6bde-63e0-41c9-89f7-07673f9de0f6	6c5cfe7c-84fa-4bfb-84f8-eebe7cb9bc0e	g.chr9:105767006T>C	uc004bbs.2	+	3	280	c.210T>C	c.(208-210)gaT>gaC	p.D70D		NM_001340	NP_001331	Q14093	CYLC2_HUMAN	Homo sapiens cylicin, basic protein of sperm head cytoskeleton 2 (CYLC2), mRNA.	70	31 X 3 AA repeats of K-K-X.				cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)	41		all_hematologic(171;0.125)				TAAGAGGAGATCGTAGACAAC	0.358												
