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
TTC22	55001	broad.mit.edu	37	1	55266546	55266546	+	Silent	SNP	C	C	T			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr1:55266546C>T	uc009vzt.1	-	0	396	c.291G>A	c.(289-291)ccG>ccA	p.P97P	TTC22_uc001cxz.4_Silent_p.P97P	NM_001114108	NP_001107580	Q5TAA0	TTC22_HUMAN	Homo sapiens tetratricopeptide repeat domain 22 (TTC22), transcript variant 1, mRNA.	97							binding			kidney(1)|large_intestine(1)|lung(7)|skin(1)	10						TGAGGTTGCCCGGGTGCTCGT	0.687												
SPAG17	200162	broad.mit.edu	37	1	118624163	118624163	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr1:118624163C>G	uc001ehk.2	-	13	1933	c.1865G>C	c.(1864-1866)gGg>gCg	p.G622A	SPAG17_uc021oss.1_5'Flank	NM_206996	NP_996879	Q6Q759	SPG17_HUMAN	Homo sapiens sperm associated antigen 17 (SPAG17), mRNA.	622						cilium|flagellar axoneme|microtubule		p.G622G(1)		NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		ACACATCATCCCAGAAGGTTT	0.428												
ADAM30	11085	broad.mit.edu	37	1	120438344	120438344	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr1:120438344C>G	uc001eij.3	-	0	804	c.616G>C	c.(616-618)Gaa>Caa	p.E206Q		NM_021794	NP_068566	Q9UKF2	ADA30_HUMAN	Homo sapiens ADAM metallopeptidase domain 30 (ADAM30), mRNA.	206	Peptidase M12B.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		AGGATCAATTCCAAGTACTTT	0.403												
GPR52	9293	broad.mit.edu	37	1	174417320	174417320	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr1:174417320G>A	uc001gka.1	+	0	109	c.71G>A	c.(70-72)cGt>cAt	p.R24H	RABGAP1L_uc001gjw.3_Intron|RABGAP1L_uc001gjx.3_Intron|RABGAP1L_uc001gjy.3_Intron|RABGAP1L_uc001gjz.3_Intron	NM_005684	NP_005675	Q9Y2T5	GPR52_HUMAN	Homo sapiens G protein-coupled receptor 52 (GPR52), mRNA.	24						integral to plasma membrane	G-protein coupled receptor activity	p.R24H(2)		breast(3)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|prostate(1)|skin(2)	20						GTGTCCGAGCGTCACTCCTGC	0.483												
HMCN1	83872	broad.mit.edu	37	1	186056355	186056355	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr1:186056355G>A	uc001grq.1	+	58	9282	c.9053G>A	c.(9052-9054)cGa>cAa	p.R3018Q	MIR548F1_uc021pgf.1_Intron	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	Homo sapiens hemicentin 1 (HMCN1), mRNA.	3018	Ig-like C2-type 28.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						ACAGGTGGTCGAACTCTACAG	0.383												
COG2	22796	broad.mit.edu	37	1	230807312	230807312	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr1:230807312G>C	uc001htw.3	+	7	976	c.825G>C	c.(823-825)atG>atC	p.M275I	COG2_uc001htx.3_Missense_Mutation_p.M275I|COG2_uc010pwc.2_Missense_Mutation_p.M148I	NM_007357	NP_031383	Q14746	COG2_HUMAN	Homo sapiens component of oligomeric golgi complex 2 (COG2), transcript variant 1, mRNA.	275					Golgi organization|intra-Golgi vesicle-mediated transport|intracellular protein transport|oligosaccharide biosynthetic process|protein glycosylation	Golgi membrane|Golgi stack|Golgi transport complex	protein binding|protein transporter activity			NS(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|urinary_tract(3)	27	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)				TTCAGGTCATGTATAATAAAC	0.393												
PCNXL2	80003	broad.mit.edu	37	1	233394169	233394169	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr1:233394169T>C	uc001hvl.2	-	4	1674	c.1439A>G	c.(1438-1440)aAg>aGg	p.K480R	PCNXL2_uc009xfu.3_Non-coding_Transcript|PCNXL2_uc009xfv.1_Non-coding_Transcript	NM_014801	NP_055616	A6NKB5	PCX2_HUMAN	Homo sapiens pecanex-like 2 (Drosophila) (PCNXL2), transcript variant 1, mRNA.	480						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				ACTGTGATCCTTGATGGCATT	0.542												
OR56A4	120793	broad.mit.edu	37	11	6023660	6023660	+	Missense_Mutation	SNP	G	G	A	rs116778909	by1000genomes	TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr11:6023660G>A	uc010qzv.2	-	0	719	c.719C>T	c.(718-720)tCc>tTc	p.S240F		NM_001005179	NP_001005179	Q8NGH8	O56A4_HUMAN	Homo sapiens olfactory receptor, family 56, subfamily A, member 4 (OR56A4), mRNA.	188					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S240F(2)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	32		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGAGAGTTTGGACACAGACAG	0.443												
NAT10	55226	broad.mit.edu	37	11	34129864	34129864	+	Missense_Mutation	SNP	A	A	C			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr11:34129864A>C	uc001mvk.3	+	1	336	c.92A>C	c.(91-93)gAt>gCt	p.D31A	NAT10_uc010ren.2_Intron	NM_024662	NP_078938	Q9H0A0	NAT10_HUMAN	Homo sapiens N-acetyltransferase 10 (GCN5-related) (NAT10), transcript variant 1, mRNA.	31						nucleolus	ATP binding|N-acetyltransferase activity|protein binding			endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(5;0.0119)|all_hematologic(20;0.0231)				GTAGTTGGGGATCGAGGAAAA	0.423												
TRIM51	84767	broad.mit.edu	37	11	55653246	55653246	+	Silent	SNP	G	G	A			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr11:55653246G>A	uc010rip.2	+	1	434	c.342G>A	c.(340-342)ccG>ccA	p.P114P	TRIM51_uc010riq.2_5'Flank	NM_032681	NP_116070	Q9BSJ1	SPRY5_HUMAN	Homo sapiens SPRY domain containing 5 (SPRYD5), mRNA.	114						intracellular	zinc ion binding										TCTGTTTGCCGTGCTCCAACT	0.507												
OR8K3	219473	broad.mit.edu	37	11	56086106	56086106	+	Missense_Mutation	SNP	T	T	G			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr11:56086106T>G	uc010rjf.2	+	0	324	c.324T>G	c.(322-324)atT>atG	p.I108M		NM_001005202	NP_001005202	Q8NH51	OR8K3_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily K, member 3 (OR8K3), mRNA.	108					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|ovary(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	40	Esophageal squamous(21;0.00448)					TTGTGTTCATTGGTAGTGAAC	0.378												
TPCN2	219931	broad.mit.edu	37	11	68854047	68854047	+	Missense_Mutation	SNP	A	A	G	rs150476703		TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr11:68854047A>G	uc001oos.2	+	22	2176	c.2060A>G	c.(2059-2061)aAc>aGc	p.N687S	TPCN2_uc010rqg.1_Intron|TPCN2_uc021qmo.1_Non-coding_Transcript	NM_139075	NP_620714	Q8NHX9	TPC2_HUMAN	Homo sapiens two pore segment channel 2 (TPCN2), mRNA.	687					cellular calcium ion homeostasis|smooth muscle contraction	endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated calcium channel activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	32			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			ATCTGGGTCAACCTGTTTCTG	0.532												
SLCO1A2	6579	broad.mit.edu	37	12	21457447	21457447	+	Missense_Mutation	SNP	C	C	T	rs148616059	byFrequency	TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr12:21457447C>T	uc001rer.3	-	4	754	c.503G>A	c.(502-504)cGt>cAt	p.R168H	SLCO1A2_uc010siq.2_Missense_Mutation_p.R36H|SLCO1A2_uc001res.3_Missense_Mutation_p.R168H|SLCO1A2_uc010sio.2_Missense_Mutation_p.R36H|SLCO1A2_uc010sip.2_Missense_Mutation_p.R36H|SLCO1A2_uc001ret.3_Missense_Mutation_p.R166H|SLCO1A2_uc001reu.2_Missense_Mutation_p.R148H	NM_021094	NP_602307	P46721	SO1A2_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 1A2 (SLCO1A2), transcript variant 2, mRNA.	168					bile acid metabolic process|sodium-independent organic anion transport	integral to membrane|plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity	p.R168C(1)		breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1)	48						ACCCATTCCACGTACAATATT	0.348												
DDX11	1663	broad.mit.edu	37	12	31255360	31255360	+	Splice_Site	SNP	G	G	T			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr12:31255360G>T	uc001rjt.1	+	23	2523	c.2272_splice	c.e23-1	p.A758_splice	DDX11_uc001rjr.1_Splice_Site_p.A758_splice|DDX11_uc001rjs.1_Splice_Site_p.A708_splice|DDX11_uc001rju.1_Splice_Site_p.A430_splice|DDX11_uc001rjv.1_Splice_Site_p.A758_splice|DDX11_uc001rjw.1_Splice_Site_p.A732_splice|DDX11_uc009zjn.1_Splice_Site|DDX11_uc009zjo.1_5'Flank	NM_152438	NP_689651	Q96FC9	DDX11_HUMAN	Homo sapiens DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 (DDX11), transcript variant 3, mRNA.	758					G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitotic sister chromatid segregation|positive regulation of cell proliferation|S phase of mitotic cell cycle|sister chromatid cohesion	midbody|nuclear chromatin|nucleolus|spindle pole	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|RNA binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	57	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					TTCTCCTACAGGCCTGTGGCC	0.577										Multiple Myeloma(12;0.14)		
NUP107	57122	broad.mit.edu	37	12	69124921	69124921	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr12:69124921T>C	uc001suf.3	+	20	1881	c.1766T>C	c.(1765-1767)aTa>aCa	p.I589T	NUP107_uc001sug.3_Intron|NUP107_uc010stj.2_Missense_Mutation_p.I560T	NM_020401	NP_065134	P57740	NU107_HUMAN	Homo sapiens nucleoporin 107kDa (NUP107), mRNA.	589					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding		NUP107/LGR5(2)	breast(3)|endometrium(4)|kidney(4)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(2)	39	Breast(13;6.25e-06)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)			ACAAATCTTATAGCATTTTAT	0.303												
TRHDE	29953	broad.mit.edu	37	12	73014949	73014949	+	Missense_Mutation	SNP	T	T	A			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr12:73014949T>A	uc001sxa.3	+	13	2426	c.2396T>A	c.(2395-2397)tTt>tAt	p.F799Y		NM_013381	NP_037513	Q9UKU6	TRHDE_HUMAN	Homo sapiens thyrotropin-releasing hormone degrading enzyme (TRHDE), mRNA.	799					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						AAAAATAATTTTAATGGATCT	0.323												
HCAR3	8843	broad.mit.edu	37	12	123200283	123200283	+	Silent	SNP	G	G	A			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr12:123200283G>A	uc001ucy.4	-	0	1157	c.1002C>T	c.(1000-1002)gaC>gaT	p.D334D	HCAR1_uc001ucw.1_Intron	NM_006018	NP_006009	P49019	HCAR3_HUMAN	Homo sapiens hydroxycarboxylic acid receptor 3 (HCAR3), mRNA.	334						integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	9					Mepenzolate(DB04843)|Niacin(DB00627)	TTTTGTTGGGGTCCCCTGTGA	0.542												
FLT3	2322	broad.mit.edu	37	13	28592705	28592705	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr13:28592705C>T	uc001urw.3	-	19	2522	c.2440G>A	c.(2440-2442)Gcc>Acc	p.A814T	FLT3_uc010aao.3_Non-coding_Transcript|FLT3_uc010tdn.2_Intron	NM_004119	NP_004110	P36888	FLT3_HUMAN	Homo sapiens fms-related tyrosine kinase 3 (FLT3), mRNA.	814	Protein kinase.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Sorafenib(DB00398)|Sunitinib(DB01268)	ACGTTCCTGGCGGCCAGGTCT	0.453			"""Mis, O"""		"""AML, ALL"""							
YLPM1	56252	broad.mit.edu	37	14	75264755	75264755	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr14:75264755G>A	uc001xqj.4	+	4	2879	c.2755G>A	c.(2755-2757)Gta>Ata	p.V919I	YLPM1_uc001xql.4_Non-coding_Transcript	NM_019589	NP_062535	P49750	YLPM1_HUMAN	Homo sapiens YLP motif containing 1 (YLPM1), mRNA.	724	Arg-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck				breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		GGAAGGGCCCGTAGAGCCCTC	0.483												
SETD3	84193	broad.mit.edu	37	14	99866491	99866491	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr14:99866491G>A	uc001ygc.3	-	11	1453	c.1283C>T	c.(1282-1284)aCa>aTa	p.T428I		NM_032233	NP_115609	Q86TU7	SETD3_HUMAN	Homo sapiens SET domain containing 3 (SETD3), transcript variant 1, mRNA.	428					peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|peptidyl-lysine trimethylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone methyltransferase activity (H3-K36 specific)|transcription coactivator activity	p.W427*(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25		all_cancers(154;0.224)|all_epithelial(191;0.0644)|Melanoma(154;0.0866)				ttcaagaaatgtccaaagttt	0.373												
HDC	3067	broad.mit.edu	37	15	50534686	50534686	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr15:50534686C>A	uc001zxz.3	-	11	2102	c.1760G>T	c.(1759-1761)tGc>tTc	p.C587F	HDC_uc001zxy.3_Missense_Mutation_p.C330F|HDC_uc010uff.2_Missense_Mutation_p.C554F	NM_002112	NP_002103	P19113	DCHS_HUMAN	Homo sapiens histidine decarboxylase (HDC), mRNA.	587					catecholamine biosynthetic process|histidine metabolic process		histidine decarboxylase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		all_lung(180;0.0138)		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)	L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114)	CACACTGTTGCAACTGAGGGA	0.542												
CTC1	80169	broad.mit.edu	37	17	8136310	8136310	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr17:8136310C>T	uc002gkq.4	-	10	1918	c.1859G>A	c.(1858-1860)tGt>tAt	p.C620Y	CTC1_uc010cnv.3_Non-coding_Transcript	NM_025099	NP_079375	Q2NKJ3	CTC1_HUMAN	Homo sapiens CTS telomere maintenance complex component 1 (CTC1), mRNA.	620					positive regulation of DNA replication|telomere maintenance	Stn1-Ten1 complex	protein binding|single-stranded DNA binding			NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4)	29						AAGTTGCAGACAACCTTTATG	0.483												
NUFIP2	57532	broad.mit.edu	37	17	27613998	27613998	+	Silent	SNP	T	T	C			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr17:27613998T>C	uc002hdy.4	-	1	1103	c.1014A>G	c.(1012-1014)aaA>aaG	p.K338K	NUFIP2_uc002hdx.4_Intron	NM_020772	NP_065823	Q7Z417	NUFP2_HUMAN	Homo sapiens nuclear fragile X mental retardation protein interacting protein 2 (NUFIP2), mRNA.	338						nucleus|polysomal ribosome	protein binding|RNA binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	24			BRCA - Breast invasive adenocarcinoma(11;0.000457)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551)			CTGGGGGTGGTTTAAATAGGG	0.413												
NF1	4763	broad.mit.edu	37	17	29556163	29556163	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr17:29556163C>T	uc002hgg.3	+	20	2913	c.2530C>T	c.(2530-2532)Ctt>Ttt	p.L844F	NF1_uc002hgh.3_Missense_Mutation_p.L844F|NF1_uc010csn.2_Missense_Mutation_p.L704F|NF1_uc002hgi.1_5'UTR	NM_001042492	NP_001035957	P21359	NF1_HUMAN	Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.	844			L -> F (in NF1).|L -> P (in NF1).|L -> R (in NF1; sporadic).		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.?(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)		GACTGGCTTCCTTTGTGCCCT	0.517			"""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)		
GAS2L2	246176	broad.mit.edu	37	17	34073181	34073181	+	Silent	SNP	G	G	A			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr17:34073181G>A	uc002hjv.2	-	5	1363	c.1335C>T	c.(1333-1335)gcC>gcT	p.A445A		NM_139285	NP_644814	Q8NHY3	GA2L2_HUMAN	Homo sapiens growth arrest-specific 2 like 2 (GAS2L2), mRNA.	445					cell cycle arrest	cytoplasm|cytoskeleton				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CTTTGGTGGTGGCCTCAATGG	0.612												
KRT28	162605	broad.mit.edu	37	17	38953242	38953242	+	Missense_Mutation	SNP	C	C	T	rs146193469	byFrequency	TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr17:38953242C>T	uc002hvh.1	-	4	970	c.904G>A	c.(904-906)Gcc>Acc	p.A302T		NM_181535	NP_853513	Q7Z3Y7	K1C28_HUMAN	Homo sapiens keratin 28 (KRT28), mRNA.	302	Coil 2.|Rod.					cytoplasm|intermediate filament	structural molecule activity			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30		Breast(137;0.000301)				TGGCTCCGGGCGAAAGTGGCT	0.662												
MTMR4	9110	broad.mit.edu	37	17	56581411	56581411	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr17:56581411C>A	uc002iwj.2	-	14	1766	c.1656_splice	c.e14+1	p.M552_splice		NM_004687	NP_004678	Q9NYA4	MTMR4_HUMAN	Homo sapiens myotubularin related protein 4 (MTMR4), mRNA.	552	Myotubularin phosphatase.					cytoplasm|membrane	metal ion binding|protein tyrosine phosphatase activity			breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TCAGACTCACCATGTCTGAGC	0.483												
MTMR4	9110	broad.mit.edu	37	17	56585838	56585838	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr17:56585838C>T	uc002iwj.2	-	6	652	c.542G>A	c.(541-543)aGc>aAc	p.S181N		NM_004687	NP_004678	Q9NYA4	MTMR4_HUMAN	Homo sapiens myotubularin related protein 4 (MTMR4), mRNA.	181	Myotubularin phosphatase.					cytoplasm|membrane	metal ion binding|protein tyrosine phosphatase activity			breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CTTGTAGTTGCTGTTGATGTG	0.527												
GH1	2688	broad.mit.edu	37	17	61995152	61995152	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr17:61995152C>T	uc002jdj.3	-	3	486	c.424G>A	c.(424-426)Gac>Aac	p.D142N	GH1_uc002jdi.3_Missense_Mutation_p.D127N|GH1_uc002jdk.3_Missense_Mutation_p.D102N|GH1_uc002jdl.3_Intron|GH1_uc002jdm.3_Intron|GH1_uc002jdn.3_Intron	NM_000515	NP_000506	P01241	SOMA_HUMAN	Homo sapiens growth hormone 1 (GH1), transcript variant 1, mRNA.	142					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			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)	19						TCCTCTAGGTCCTTTAGGAGG	0.587												
ICAM2	3384	broad.mit.edu	37	17	62080238	62080238	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr17:62080238C>A	uc002jdu.4	-	3	929	c.697G>T	c.(697-699)Gtg>Ttg	p.V233L	C17orf72_uc002jdt.4_3'UTR|C17orf72_uc021ubo.1_3'UTR|C17orf72_uc010wpw.2_3'UTR|C17orf72_uc010wpu.2_3'UTR|C17orf72_uc010wpv.2_3'UTR|ICAM2_uc002jdw.4_Missense_Mutation_p.V233L|ICAM2_uc010ded.3_Missense_Mutation_p.V233L|ICAM2_uc002jdx.4_Missense_Mutation_p.V233L|ICAM2_uc002jdv.4_Missense_Mutation_p.V233L	NM_000873	NP_001093259	P13598	ICAM2_HUMAN	Homo sapiens intercellular adhesion molecule 2 (ICAM2), transcript variant 5, mRNA.	233					cell-cell adhesion|regulation of immune response	integral to plasma membrane	integrin binding			large_intestine(1)|lung(2)|ovary(1)|skin(2)	6						GACAGCAACACCGACACCACC	0.612												
FADS6	283985	broad.mit.edu	37	17	72878745	72878745	+	Silent	SNP	C	C	T			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr17:72878745C>T	uc002jmd.1	-	2	465	c.453G>A	c.(451-453)acG>acA	p.T151T	FADS6_uc010wrn.1_Missense_Mutation_p.R68H	NM_178128	NP_835229	Q8N9I5	FADS6_HUMAN	Homo sapiens fatty acid desaturase domain family, member 6 (FADS6), mRNA.	157					fatty acid biosynthetic process	integral to membrane	oxidoreductase activity			endometrium(3)|kidney(1)|lung(4)	8	all_lung(278;0.172)|Lung NSC(278;0.207)					GCAGCCTCCACGTGCTGGAGT	0.602												
SLC26A11	284129	broad.mit.edu	37	17	78195495	78195495	+	Nonsense_Mutation	SNP	C	C	T			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr17:78195495C>T	uc002jyb.2	+	2	442	c.136C>T	c.(136-138)Cag>Tag	p.Q46*	SGSH_uc002jxz.4_5'Flank|SGSH_uc002jya.4_5'Flank|SGSH_uc002jxy.2_5'Flank|SGSH_uc010wue.1_5'Flank|SLC26A11_uc002jyc.2_Nonsense_Mutation_p.Q46*|SLC26A11_uc002jyd.2_Nonsense_Mutation_p.Q46*|SLC26A11_uc010dhv.2_Nonsense_Mutation_p.Q46*	NM_173626	NP_775897	Q86WA9	S2611_HUMAN	Homo sapiens solute carrier family 26, member 11 (SLC26A11), transcript variant 2, mRNA.	46						endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosomal membrane|plasma membrane	anion:anion antiporter activity|secondary active sulfate transmembrane transporter activity			central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	28	all_neural(118;0.0538)		OV - Ovarian serous cystadenocarcinoma(97;0.0344)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			CTACTCCCTGCAGTGGCTGAA	0.687												
REXO1	57455	broad.mit.edu	37	19	1828079	1828079	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr19:1828079G>A	uc002lua.4	-	1	804	c.709C>T	c.(709-711)Ctc>Ttc	p.L237F	REXO1_uc010dsr.1_Missense_Mutation_p.L191F	NM_020695	NP_065746	Q8N1G1	REXO1_HUMAN	Homo sapiens REX1, RNA exonuclease 1 homolog (S. cerevisiae) (REXO1), mRNA.	237						nucleus	exonuclease activity|nucleic acid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	16		Ovarian(11;1.78e-06)|Hepatocellular(1079;0.137)		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)		TAGTTGGAGAGAGGGTCATAC	0.701												
ANO8	57719	broad.mit.edu	37	19	17436028	17436028	+	Silent	SNP	G	G	A	rs144454643		TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr19:17436028G>A	uc002ngf.2	-	16	2988	c.2829C>T	c.(2827-2829)tcC>tcT	p.S943S	ANO8_uc010eap.2_Non-coding_Transcript	NM_020959	NP_066010	Q9HCE9	ANO8_HUMAN	Homo sapiens anoctamin 8 (ANO8), mRNA.	943						chloride channel complex	chloride channel activity			autonomic_ganglia(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(3)	27						AGGCCTTCTCGGAGGAGGTGG	0.692												
CEACAM21	90273	broad.mit.edu	37	19	42083911	42083911	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr19:42083911G>A	uc002ore.4	+	2	520	c.424_splice	c.e2+1	p.E142_splice	CEACAM21_uc002orc.1_Splice_Site|CEACAM21_uc002orf.2_Splice_Site|CEACAM21_uc002org.4_Splice_Site_p.E142_splice	NM_001098506	NP_001091976	Q3KPI0	CEA21_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 21 (CEACAM21), transcript variant 1, mRNA.	142						integral to membrane				endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|urinary_tract(1)	13						CCGTGTATACGGTGAGTGATT	0.522												
NTF4	4909	broad.mit.edu	37	19	49564974	49564974	+	Missense_Mutation	SNP	A	A	C			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr19:49564974A>C	uc002pmf.4	-	1	417	c.281T>G	c.(280-282)cTg>cGg	p.L94R	NTF4_uc010yah.1_Intron|NTF4_uc021uxg.1_Missense_Mutation_p.L94R	NM_006179	NP_006170	P34130	NTF4_HUMAN	Homo sapiens neurotrophin 4 (NTF4), mRNA.	94					adult locomotory behavior|epidermis development|ganglion mother cell fate determination|long-term memory|sensory organ boundary specification	endoplasmic reticulum lumen|extracellular region	growth factor activity			kidney(1)|lung(4)|upper_aerodigestive_tract(1)	6		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_epithelial(76;3.83e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427)		GCACACAGCCAGCTCACCCCG	0.692												
KLK6	5653	broad.mit.edu	37	19	51466671	51466671	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr19:51466671C>T	uc002puh.3	-	2	424	c.359G>A	c.(358-360)cGc>cAc	p.R120H	KLK6_uc010eoj.3_Intron|KLK6_uc002pui.3_Missense_Mutation_p.R111H|KLK6_uc002puj.3_Missense_Mutation_p.R4H|KLK6_uc010ycn.2_Missense_Mutation_p.R4H|KLK6_uc002pul.3_Missense_Mutation_p.R111H|KLK6_uc002pum.3_Missense_Mutation_p.R4H	NM_001012965	NP_001012983	Q92876	KLK6_HUMAN	Homo sapiens kallikrein-related peptidase 6 (KLK6), transcript variant C, mRNA.	111	Peptidase S1.				amyloid precursor protein metabolic process|central nervous system development|collagen catabolic process|hormone metabolic process|myelination|positive regulation of G-protein coupled receptor protein signaling pathway|protein autoprocessing|proteolysis|regulation of cell differentiation|tissue regeneration	endoplasmic reticulum|extracellular region|microsome|mitochondrion|nucleolus	protein binding|serine-type endopeptidase activity			endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|skin(4)	13		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00372)|GBM - Glioblastoma multiforme(134;0.00871)		GCGTGCCAGGCGCAACAGCAT	0.617												
ZSCAN22	342945	broad.mit.edu	37	19	58850588	58850588	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr19:58850588C>T	uc002qsc.2	+	2	1519	c.1372C>T	c.(1372-1374)Cac>Tac	p.H458Y	ZSCAN22_uc010yhz.1_3'UTR	NM_181846	NP_862829	P10073	ZSC22_HUMAN	Homo sapiens zinc finger and SCAN domain containing 22 (ZSCAN22), mRNA.	458					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|pancreas(1)|prostate(2)	16		all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0289)		CCAGAGGATCCACACGGGAGA	0.542												
C2orf16	84226	broad.mit.edu	37	2	27801373	27801373	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr2:27801373T>C	uc002rkz.4	+	0	1985	c.1934T>C	c.(1933-1935)gTa>gCa	p.V645A		NM_032266	NP_115642	Q68DN1	CB016_HUMAN	Homo sapiens chromosome 2 open reading frame 16 (C2orf16), mRNA.	645										breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					GAACTGATAGTACCTGCAGAA	0.403												
SLC9A4	389015	broad.mit.edu	37	2	103149074	103149074	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr2:103149074C>T	uc002tbz.4	+	11	2781	c.2324C>T	c.(2323-2325)tCg>tTg	p.S775L		NM_001011552	NP_001011552	Q6AI14	SL9A4_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 4 (SLC9A4), mRNA.	775					regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity	p.R774W(1)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						GAGGTTCGGTCGAGGTGGACA	0.517												
LRP2	4036	broad.mit.edu	37	2	169985569	169985569	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr2:169985569C>T	uc002ues.3	-	77	13967	c.13754G>A	c.(13753-13755)cGa>cAa	p.R4585Q		NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	4585					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	p.R4585*(1)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	TTTAGATTTTCGTTTGAAGAG	0.313												
TTN	7273	broad.mit.edu	37	2	179463526	179463526	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr2:179463526C>T	uc021vsy.1	-	239	49432	c.49207G>A	c.(49207-49209)Gtg>Atg	p.V16403M	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.V10098M|TTN_uc021vta.1_Missense_Mutation_p.V10031M|TTN_uc021vtb.1_Missense_Mutation_p.V9906M	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	17330	Ig-like 100.						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)			GCTGGACCCACGCCAGCAGCA	0.428												
PID1	55022	broad.mit.edu	37	2	229890703	229890703	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr2:229890703T>C	uc002vpr.4	-	2	436	c.398A>G	c.(397-399)aAt>aGt	p.N133S	PID1_uc002vps.4_Missense_Mutation_p.N131S|PID1_uc002vpt.4_Missense_Mutation_p.N100S|PID1_uc002vpu.4_Missense_Mutation_p.N51S	NM_001100818	NP_001094288	Q7Z2X4	PCLI1_HUMAN	Homo sapiens phosphotyrosine interaction domain containing 1 (PID1), transcript variant 2, mRNA.	133	PID.					cytoplasm				breast(4)|endometrium(3)|large_intestine(5)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26		Renal(207;0.0112)|all_lung(227;0.0191)|Lung NSC(271;0.0851)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.171)		Epithelial(121;3.08e-11)|all cancers(144;2.28e-08)|LUSC - Lung squamous cell carcinoma(224;0.0145)|Lung(261;0.0189)		CAGGAGGGCATTGGCCGGAAA	0.557												
COL6A3	1293	broad.mit.edu	37	2	238285526	238285526	+	Missense_Mutation	SNP	C	C	T	rs140437593	byFrequency	TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr2:238285526C>T	uc002vwl.2	-	6	3244	c.2959G>A	c.(2959-2961)Gtg>Atg	p.V987M	COL6A3_uc002vwo.2_Missense_Mutation_p.V781M|COL6A3_uc010znj.1_Missense_Mutation_p.V380M|COL6A3_uc002vwq.3_Missense_Mutation_p.V781M|COL6A3_uc002vwr.3_Missense_Mutation_p.V580M|COL6A3_uc010znk.1_Missense_Mutation_p.V787M	NM_004369	NP_004360	P12111	CO6A3_HUMAN	Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA.	987	Nonhelical region.|VWFA 5.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GGAGACAGCACGATCTGCTCT	0.512												
SLC35C2	51006	broad.mit.edu	37	20	44979115	44979115	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr20:44979115A>G	uc010zxp.2	-	10	1196	c.1103T>C	c.(1102-1104)cTg>cCg	p.L368P	SLC35C2_uc002xro.3_Missense_Mutation_p.L339P|SLC35C2_uc002xrp.3_Missense_Mutation_p.L318P|SLC35C2_uc002xrq.3_Missense_Mutation_p.L339P|SLC35C2_uc002xrr.3_Missense_Mutation_p.L339P|SLC35C2_uc010zxn.2_Missense_Mutation_p.L204P|SLC35C2_uc010zxo.2_Missense_Mutation_p.L225P	NM_173179	NP_775271	Q9NQQ7	S35C2_HUMAN	Homo sapiens solute carrier family 35, member C2 (SLC35C2), transcript variant 1, mRNA.	339					transport	integral to membrane				cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)	16		Myeloproliferative disorder(115;0.0122)				CAGCAGCTCCAGGTCGGGGCT	0.617												
PTGIS	5740	broad.mit.edu	37	20	48129691	48129691	+	Nonsense_Mutation	SNP	G	G	A			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr20:48129691G>A	uc002xut.3	-	7	1186	c.1132C>T	c.(1132-1134)Cga>Tga	p.R378*	PTGIS_uc010zyi.2_Nonsense_Mutation_p.R239*	NM_000961	NP_000952	Q16647	PTGIS_HUMAN	Homo sapiens prostaglandin I2 (prostacyclin) synthase (PTGIS), mRNA.	378					hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|prostaglandin-I synthase activity			endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|ovary(3)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	27			BRCA - Breast invasive adenocarcinoma(12;2.37e-05)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		Phenylbutazone(DB00812)	TCACCACGTCGCAGGTTGAAT	0.612												
PKDREJ	10343	broad.mit.edu	37	22	46657006	46657006	+	Silent	SNP	G	G	A			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr22:46657006G>A	uc003bhh.3	-	0	2214	c.2214C>T	c.(2212-2214)atC>atT	p.I738I		NM_006071	NP_006062	Q9NTG1	PKDRE_HUMAN	Homo sapiens polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin) (PKDREJ), mRNA.	738	REJ.				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		AAGACTGATCGATGAGGTGTT	0.408												
CACNA1D	776	broad.mit.edu	37	3	53769408	53769408	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr3:53769408G>A	uc003dgv.4	+	19	2792	c.2629G>A	c.(2629-2631)Gta>Ata	p.V877I	CACNA1D_uc003dgu.4_Missense_Mutation_p.V897I|CACNA1D_uc003dgy.4_Missense_Mutation_p.V877I|CACNA1D_uc003dgw.4_Missense_Mutation_p.V544I|CACNA1D_uc003dgx.1_Missense_Mutation_p.V25I	NM_001128840	NP_001122312	Q01668	CAC1D_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1D subunit (CACNA1D), transcript variant 2, mRNA.	877					axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	CAGGATCCGCGTAGGCTGCCA	0.587												
PIK3CA	5290	broad.mit.edu	37	3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	rs104886003		TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr3:178936091G>A	uc003fjk.3	+	9	1790	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K		NM_006218	NP_006209	P42336	PK3CA_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, alpha polypeptide (PIK3CA), mRNA.	545	PI3K helical.		E -> A (in cancer).|E -> G (in KERSEB).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E545K(1952)|p.E545A(96)|p.E545G(79)|p.E545Q(39)|p.E545D(23)|p.E545?(19)|p.E545V(6)|p.(542_545)E>K(4)|p.T544N(3)|p.T544I(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TGAAATCACTGAGCAGGAGAA	0.353	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)		
CSN2	1447	broad.mit.edu	37	4	70823297	70823297	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr4:70823297G>T	uc003hes.4	-	4	383	c.370C>A	c.(370-372)Ccc>Acc	p.P124T	CSN2_uc003het.4_Missense_Mutation_p.P123T	NM_001891	NP_001882	P05814	CASB_HUMAN	Homo sapiens casein beta (CSN2), mRNA.	124					calcium ion transport	extracellular region	calcium ion binding|enzyme inhibitor activity|transporter activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|skin(2)	12						TCAAAAAAGGGTATCGTTGGA	0.483												
KIAA1109	84162	broad.mit.edu	37	4	123200986	123200986	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr4:123200986G>T	uc003ieh.3	+	48	8693	c.8648G>T	c.(8647-8649)gGg>gTg	p.G2883V	KIAA1109_uc003iel.1_Missense_Mutation_p.G818V	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	Homo sapiens KIAA1109 (KIAA1109), mRNA.	2883					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						GCCCAAAGAGGGCTGAAGACA	0.433												
ADAMTS16	170690	broad.mit.edu	37	5	5262847	5262847	+	Nonsense_Mutation	SNP	C	C	T			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr5:5262847C>T	uc003jdl.3	+	17	2878	c.2740C>T	c.(2740-2742)Cga>Tga	p.R914*	ADAMTS16_uc003jdk.1_Nonsense_Mutation_p.R914*	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 16 (ADAMTS16), mRNA.	914	TSP type-1 2.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						TCCCAAGACACGACCTGTCAC	0.512												
PCDHB15	56121	broad.mit.edu	37	5	140627258	140627258	+	Silent	SNP	G	G	A			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr5:140627258G>A	uc003lje.3	+	0	2112	c.2112G>A	c.(2110-2112)tcG>tcA	p.S704S		NM_018935	NP_061758	Q9Y5E8	PCDBF_HUMAN	Homo sapiens protocadherin beta 15 (PCDHB15), mRNA.	704					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCCTCTTCTCGGTGTTCCTGT	0.682												
KCTD16	57528	broad.mit.edu	37	5	143586570	143586570	+	Missense_Mutation	SNP	A	A	T			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr5:143586570A>T	uc003lnm.1	+	2	922	c.293A>T	c.(292-294)gAt>gTt	p.D98V	KCTD16_uc003lnn.1_Missense_Mutation_p.D98V	NM_020768	NP_065819	Q68DU8	KCD16_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 16 (KCTD16), mRNA.	98	BTB.					cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity			large_intestine(5)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	21		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)			GTCCTGCCTGATCACTTTCCA	0.478												
OR12D2	26529	broad.mit.edu	37	6	29364556	29364556	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr6:29364556T>C	uc003nmf.4	+	0	141	c.80T>C	c.(79-81)gTg>gCg	p.V27A		NM_013936	NP_039224	P58182	O12D2_HUMAN	Homo sapiens olfactory receptor, family 12, subfamily D, member 2 (OR12D2), mRNA.	27					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	31						TTTCTCTTCGTGGTTTTCCTC	0.438												
UBD	10537	broad.mit.edu	37	6	29523710	29523710	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr6:29523710C>T	uc003nmo.3	-	1	669	c.445G>A	c.(445-447)Ggc>Agc	p.G149S	GABBR1_uc003nmp.4_3'UTR	NM_006398	NP_006389	O15205	UBD_HUMAN	Homo sapiens ubiquitin D (UBD), mRNA.	149	Ubiquitin 2.				aggresome assembly|myeloid dendritic cell differentiation|negative regulation of mitotic prometaphase|positive regulation of apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein ubiquitination|response to interferon-gamma|response to tumor necrosis factor|ubiquitin-dependent protein catabolic process	aggresome|cytoplasm|nucleus	proteasome binding			kidney(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6						TTTCTGATGCCGTAATCTGCC	0.473												
COL12A1	1303	broad.mit.edu	37	6	75840567	75840567	+	Splice_Site	SNP	C	C	T			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr6:75840567C>T	uc021zbv.1	-	35	6102	c.6067_splice	c.e35+1	p.L2023_splice	COL12A1_uc021zbw.1_Splice_Site_p.L859_splice|COL12A1_uc003phs.3_Splice_Site_p.L2023_splice|COL12A1_uc003pht.3_Splice_Site_p.L859_splice	NM_004370	NP_004361	Q99715	COCA1_HUMAN	Homo sapiens collagen, type XII, alpha 1 (COL12A1), transcript variant long, mRNA.	2023					cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						TTCTGCCTCACGCGTTCGGCC	0.562												
THEMIS	387357	broad.mit.edu	37	6	128134889	128134889	+	Silent	SNP	G	G	A			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr6:128134889G>A	uc011ebt.2	-	3	1046	c.897C>T	c.(895-897)agC>agT	p.S299S	THEMIS_uc010kfa.3_Silent_p.S202S|THEMIS_uc021zfa.1_Silent_p.S299S|THEMIS_uc010kfb.3_Silent_p.S264S	NM_001164685	NP_001158157	Q8N1K5	THMS1_HUMAN	Homo sapiens thymocyte selection associated (THEMIS), transcript variant 1, mRNA.	299	CABIT 2.				negative T cell selection|positive T cell selection|T cell receptor signaling pathway	cytoplasm|nucleus				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						GCTGTAAAATGCTTTGGGGCA	0.393												
GPR126	57211	broad.mit.edu	37	6	142736934	142736934	+	Frame_Shift_Del	DEL	A	A	-			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr6:142736934delA	uc010khe.3	+	20	3081	c.2670_splice	c.e20-1	p.E890_splice	GPR126_uc010khc.3_Splice_Site_p.E890_splice|GPR126_uc010khd.3_Splice_Site_p.E862_splice|GPR126_uc010khf.3_Splice_Site_p.E862_splice	NM_198569	NP_940971	Q86SQ4	GP126_HUMAN	Homo sapiens G protein-coupled receptor 126 (GPR126), transcript variant b1, mRNA.	890					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			cervix(1)|endometrium(1)|kidney(3)|large_intestine(12)|lung(10)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36	Breast(32;0.176)			OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121)		ATTTTTTAGGAAATTGCGAAG	0.398												
SEMA3E	9723	broad.mit.edu	37	7	83016344	83016344	+	Nonsense_Mutation	SNP	G	G	A			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr7:83016344G>A	uc003uhy.2	-	14	2311	c.1690C>T	c.(1690-1692)Cga>Tga	p.R564*	SEMA3E_uc022agy.1_Nonsense_Mutation_p.R504*	NM_012431	NP_001171600	O15041	SEM3E_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E (SEMA3E), transcript variant 1, mRNA.	564					axon guidance	extracellular space|membrane	receptor activity	p.R564Q(1)		breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				TTTCCATGTCGAACATCTTGT	0.363												
COL1A2	1278	broad.mit.edu	37	7	94052404	94052404	+	Missense_Mutation	SNP	G	G	A	rs72658196		TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr7:94052404G>A	uc003ung.1	+	39	3010	c.2539G>A	c.(2539-2541)Ggt>Agt	p.G847S	COL1A2_uc011kib.1_Intron|COL1A2_uc010lfi.1_Intron	NM_000089	NP_000080	P08123	CO1A2_HUMAN	Homo sapiens collagen, type I, alpha 2 (COL1A2), mRNA.	847			Missing (in OI2A).		axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging	p.G847S(2)	COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	TGGTGAGAAGGGTCCCTCTGG	0.502										HNSCC(75;0.22)		
TRIM4	89122	broad.mit.edu	37	7	99516919	99516919	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr7:99516919G>T	uc003usd.3	-	0	305	c.106C>A	c.(106-108)Ctg>Atg	p.L36M	TRIM4_uc003use.3_Missense_Mutation_p.L36M|TRIM4_uc011kjc.2_5'UTR|TRIM4_uc003usf.3_Missense_Mutation_p.L36M	NM_033017	NP_148977	Q9C037	TRIM4_HUMAN	Homo sapiens tripartite motif containing 4 (TRIM4), transcript variant alpha, mRNA.	36					protein trimerization	cytoplasm|plasma membrane	zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)	17	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)	Ovarian(593;0.238)				TTGCGGTGCAGGCAGCCGCGG	0.701												
OR2A12	346525	broad.mit.edu	37	7	143792582	143792582	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr7:143792582C>A	uc011kty.2	+	0	382	c.382C>A	c.(382-384)Ccc>Acc	p.P128T		NM_001004135	NP_001004135	Q8NGT7	O2A12_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 12 (OR2A12), mRNA.	128					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)	25	Melanoma(164;0.0783)					AATCTGTCACCCCTTGCAATA	0.433												
PTK2B	2185	broad.mit.edu	37	8	27301729	27301729	+	Nonsense_Mutation	SNP	C	C	T			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr8:27301729C>T	uc003xfn.2	+	27	2963	c.2155C>T	c.(2155-2157)Cga>Tga	p.R719*	PTK2B_uc022ate.1_Nonsense_Mutation_p.R719*|PTK2B_uc003xfp.2_Nonsense_Mutation_p.R719*|PTK2B_uc003xfq.2_Nonsense_Mutation_p.R719*|PTK2B_uc003xfr.1_Nonsense_Mutation_p.R465*	NM_173174	NP_775268	Q14289	FAK2_HUMAN	Homo sapiens PTK2B protein tyrosine kinase 2 beta (PTK2B), transcript variant 1, mRNA.	719	Pro-rich.				apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Ovarian(32;2.72e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)		CCAGCCCAGCCGACCTAAGTA	0.542												
ZC2HC1A	51101	broad.mit.edu	37	8	79590915	79590915	+	Splice_Site	SNP	G	G	A			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr8:79590915G>A	uc003ybd.3	+	3	312	c.210_splice	c.e3+1	p.R70_splice		NM_016010	NP_057094	Q96GY0	F164A_HUMAN	Homo sapiens family with sequence similarity 164, member A (FAM164A), mRNA.	70																	CAAACCGAGGGTAACTATATA	0.333												
RAD54B	25788	broad.mit.edu	37	8	95403893	95403893	+	Missense_Mutation	SNP	T	T	A			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr8:95403893T>A	uc003ygk.3	-	9	1884	c.1753A>T	c.(1753-1755)Ata>Tta	p.I585L	RAD54B_uc010may.2_Missense_Mutation_p.I401L|RAD54B_uc003ygl.2_Non-coding_Transcript	NM_012415	NP_001192192	O95073	FSBP_HUMAN	Homo sapiens RAD54 homolog B (S. cerevisiae) (RAD54B), transcript variant 1, mRNA.	0					double-strand break repair via homologous recombination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA translocase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(10)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(36;4.5e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00217)			AGAGCTCCTATACATATTAGA	0.408								Direct reversal of damage;Homologous recombination				
PLEC	5339	broad.mit.edu	37	8	144990758	144990758	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr8:144990758C>T	uc003zaf.1	-	31	13812	c.13642G>A	c.(13642-13644)Gcc>Acc	p.A4548T	PLEC_uc003zab.1_Missense_Mutation_p.A4411T|PLEC_uc003zac.1_Missense_Mutation_p.A4415T|PLEC_uc003zad.2_Missense_Mutation_p.A4411T|PLEC_uc003zae.1_Missense_Mutation_p.A4379T|PLEC_uc003zag.1_Missense_Mutation_p.A4389T|PLEC_uc003zah.2_Missense_Mutation_p.A4397T|PLEC_uc003zaj.2_Missense_Mutation_p.A4438T	NM_201380	NP_958782	Q15149	PLEC_HUMAN	Homo sapiens plectin (PLEC), transcript variant 6, mRNA.	4548	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CGCTGCAGGGCCTCGTCCAGG	0.682												
RMI1	80010	broad.mit.edu	37	9	86616796	86616796	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr9:86616796C>A	uc022bjb.1	+	0	895	c.895C>A	c.(895-897)Cca>Aca	p.P299T	RMI1_uc004anq.4_Missense_Mutation_p.P299T|RMI1_uc004anr.4_Missense_Mutation_p.P299T|RMI1_uc004anp.4_Missense_Mutation_p.P299T|RMI1_uc004ans.4_Missense_Mutation_p.P299T	NM_024945	NP_079221	Q9H9A7	RMI1_HUMAN	Homo sapiens RMI1, RecQ mediated genome instability 1, homolog (S. cerevisiae) (RMI1), mRNA.	299					DNA replication	nucleus				biliary_tract(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18						AAAAGAGGAACCATCAAACCT	0.398												
LHX3	8022	broad.mit.edu	37	9	139092527	139092527	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr9:139092527C>A	uc004cgz.3	-	1	286	c.167G>T	c.(166-168)tGg>tTg	p.W56L	LHX3_uc022bpm.1_5'UTR|LHX3_uc004cha.3_Missense_Mutation_p.W51L	NM_014564	NP_055379	Q9UBR4	LHX3_HUMAN	Homo sapiens LIM homeobox 3 (LHX3), transcript variant 2, mRNA.	51	LIM zinc-binding 1.				inner ear development|organ morphogenesis|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(2)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	8		Myeloproliferative disorder(178;0.0511)		Epithelial(140;8.43e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.26e-07)		CTTGCTGTGCCAGTGGCGGTC	0.607												
ARSE	415	broad.mit.edu	37	X	2867744	2867744	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chrX:2867744C>G	uc011mhh.2	-	6	991	c.530G>C	c.(529-531)tGt>tCt	p.C177S	ARSE_uc011mhi.2_Missense_Mutation_p.C98S|ARSE_uc004crc.4_Missense_Mutation_p.C152S			P51690	ARSE_HUMAN	Homo sapiens arylsulfatase E (chondrodysplasia punctata 1) (ARSE), mRNA.	152					skeletal system development	Golgi stack	arylsulfatase activity|metal ion binding	p.S176F(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GGCTGACTCACAGTTGAGACC	0.483												
MXRA5	25878	broad.mit.edu	37	X	3235366	3235366	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chrX:3235366C>T	uc004crg.4	-	5	6513	c.6356G>A	c.(6355-6357)cGc>cAc	p.R2119H		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	2119	Ig-like C2-type 5.					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)				GCACTCATAGCGCCCGCTGTC	0.662												
MAGEB1	4112	broad.mit.edu	37	X	30269233	30269233	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chrX:30269233T>C	uc022buh.1	+	0	623	c.623T>C	c.(622-624)aTc>aCc	p.I208T	MAGEB1_uc004dcc.3_Missense_Mutation_p.I208T|MAGEB1_uc004dcd.3_Missense_Mutation_p.I208T|MAGEB1_uc004dce.3_Missense_Mutation_p.I208T	NM_177415	NP_803134	P43366	MAGB1_HUMAN	Homo sapiens melanoma antigen family B, 1 (MAGEB1), transcript variant 3, mRNA.	208	MAGE.									NS(2)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	32						CTGGGTGTGATCTTCTTAAAG	0.488												
FAM47A	158724	broad.mit.edu	37	X	34148878	34148878	+	Silent	SNP	C	C	T			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chrX:34148878C>T	uc004ddg.3	-	0	1570	c.1518G>A	c.(1516-1518)tcG>tcA	p.S506S		NM_203408	NP_981953	Q5JRC9	FA47A_HUMAN	Homo sapiens family with sequence similarity 47, member A (FAM47A), mRNA.	506			Missing.					p.R505H(2)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						TGGGAGGCTCCGAGCGGAGAC	0.652												
PHF16	9767	broad.mit.edu	37	X	46884151	46884151	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chrX:46884151G>A	uc004dgx.3	+	4	361	c.310G>A	c.(310-312)Gtt>Att	p.V104I	PHF16_uc004dgy.3_Missense_Mutation_p.V104I	NM_001077445	NP_055550	Q92613	JADE3_HUMAN	Homo sapiens PHD finger protein 16 (PHF16), transcript variant 2, mRNA.	104					histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	zinc ion binding			NS(2)|endometrium(8)|kidney(4)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(2)	33						GGTAAAGGACGTTCTGTTTAT	0.448												
RBM10	8241	broad.mit.edu	37	X	47041361	47041361	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chrX:47041361G>A	uc004dhi.3	+	15	2129	c.1900G>A	c.(1900-1902)Gtc>Atc	p.V634I	RBM10_uc004dhf.3_Missense_Mutation_p.V569I|RBM10_uc004dhh.3_Missense_Mutation_p.V568I|RBM10_uc010nhq.3_Missense_Mutation_p.V492I|RBM10_uc004dhg.3_Missense_Mutation_p.V491I	NM_001204468	NP_001191397	P98175	RBM10_HUMAN	Homo sapiens RNA binding motif protein 10 (RBM10), transcript variant 5, mRNA.	569					mRNA processing|RNA splicing	chromatin remodeling complex	nucleotide binding|RNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						TGTTCCCGACGTCTCTACCTA	0.577												
ARL13A	392509	broad.mit.edu	37	X	100240808	100240808	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chrX:100240808G>A	uc004ego.3	+	3	399	c.283G>A	c.(283-285)Gtc>Atc	p.V95I	ARL13A_uc011mrf.2_Missense_Mutation_p.V95I|ARL13A_uc010nng.3_Missense_Mutation_p.V95I	NM_001012990	NP_001013008	Q5H913	AR13A_HUMAN	Homo sapiens ADP-ribosylation factor-like 13A (ARL13A), transcript variant 2, mRNA.	95							GTP binding			endometrium(1)|ovary(1)	2						GCTTGTTTTCGTCCTGGATTC	0.468												
HNRNPH2	3188	broad.mit.edu	37	X	100667805	100667805	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chrX:100667805G>A	uc022cai.1	+	0	829	c.829G>A	c.(829-831)Gga>Aga	p.G277R	RPL36A-HNRNPH2_uc022cag.1_3'UTR|RPL36A-HNRNPH2_uc022cah.1_3'UTR|HNRNPH2_uc004ehm.3_Missense_Mutation_p.G277R|HNRNPH2_uc004ehn.3_Missense_Mutation_p.G277R	NM_019597	NP_062543	P55795	HNRH2_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein H2 (H') (HNRNPH2), transcript variant 1, mRNA.	277	2 X 16 AA Gly-rich approximate repeats.				nuclear mRNA splicing, via spliceosome	actin cytoskeleton|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding			breast(3)|large_intestine(2)|lung(6)|skin(1)	12						TCATAGATACGGAGATGGTGG	0.428												
SLC6A14	11254	broad.mit.edu	37	X	115586616	115586616	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chrX:115586616C>T	uc004eqi.3	+	11	1729	c.1598C>T	c.(1597-1599)aCg>aTg	p.T533M		NM_007231	NP_009162	Q9UN76	S6A14_HUMAN	Homo sapiens solute carrier family 6 (amino acid transporter), member 14 (SLC6A14), mRNA.	533					cellular amino acid metabolic process|response to toxin	integral to membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	p.T533M(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	23					L-Proline(DB00172)	TTTGTAATTACGCCTATCCTT	0.348												
RHOXF1	158800	broad.mit.edu	37	X	119249400	119249400	+	Missense_Mutation	SNP	T	T	A			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chrX:119249400T>A	uc004esk.1	-	0	448	c.373A>T	c.(373-375)Act>Tct	p.T125S	AK123976_uc004esi.1_Intron	NM_139282	NP_644811	Q8NHV9	RHXF1_HUMAN	Homo sapiens Rhox homeobox family, member 1 (RHOXF1), mRNA.	125					gamete generation|multicellular organismal development|steroid hormone receptor signaling pathway	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	10						GGGTATTGAGTGTGTCGGAAA	0.577												
IRAK1	3654	broad.mit.edu	37	X	153283486	153283486	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chrX:153283486C>T	uc004fjs.1	-	6	959	c.880G>A	c.(880-882)Ggc>Agc	p.G294S	IRAK1_uc004fjr.1_Missense_Mutation_p.G294S|IRAK1_uc004fjt.1_Missense_Mutation_p.G294S|IRAK1_uc004fju.2_Missense_Mutation_p.G320S	NM_001569	NP_001560	P51617	IRAK1_HUMAN	Homo sapiens interleukin-1 receptor-associated kinase 1 (IRAK1), transcript variant 1, mRNA.	294	Protein kinase.				activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|anti-apoptosis|innate immune response|interleukin-1-mediated signaling pathway|JNK cascade|lipopolysaccharide-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of NF-kappaB transcription factor activity|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|protein autophosphorylation|protein oligomerization|regulation of cytokine-mediated signaling pathway|stress-activated MAPK cascade|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|transmembrane receptor protein serine/threonine kinase signaling pathway	cytosol|endosome membrane|interleukin-1 receptor complex	ATP binding|NF-kappaB-inducing kinase activity|protein binding|protein heterodimerization activity|protein homodimerization activity|ubiquitin-protein ligase activity			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(15)|ovary(2)	25	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TCCAGGGAGCCGTTGGGCAGG	0.612												
