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
AURKAIP1	54998	broad.mit.edu	37	1	1309242	1309242	+	Missense_Mutation	SNP	G	G	A			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr1:1309242G>A	uc001afb.1	-	2	649	c.539C>T	c.(538-540)gCg>gTg	p.A180V	AURKAIP1_uc001afc.2_Missense_Mutation_p.A180V|AURKAIP1_uc009vkb.1_Missense_Mutation_p.A180V|AURKAIP1_uc001afd.2_Missense_Mutation_p.A180V	NM_017900	NP_060370	Q9NWT8	AKIP_HUMAN	Homo sapiens aurora kinase A interacting protein 1 (AURKAIP1), transcript variant 1, mRNA.	180					negative regulation of mitosis|positive regulation of proteolysis	mitochondrion|nucleus	protein binding			kidney(1)|lung(2)	3	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;5.82e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		CTTTAGCCCCGCCTTCAGCCA	0.597												
APITD1-CORT	378708	broad.mit.edu	37	1	10493980	10493980	+	Nonsense_Mutation	SNP	C	C	T			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr1:10493980C>T	uc001arf.3	+	1	549	c.133C>T	c.(133-135)Cag>Tag	p.Q45*	APITD1-CORT_uc001are.3_Nonsense_Mutation_p.Q45*|APITD1-CORT_uc021ogd.1_Nonsense_Mutation_p.Q45*|APITD1-CORT_uc021oge.1_Non-coding_Transcript|APITD1-CORT_uc021ogf.1_Intron|APITD1-CORT_uc021ogg.1_Intron	NM_198544	NP_940946	Q8N2Z9	CENPS_HUMAN	Homo sapiens APITD1-CORT readthrough (APITD1-CORT), transcript variant 1, mRNA.	45					DNA repair|mitotic prometaphase|transcription initiation, DNA-dependent	chromosome, centromeric region|cytosol|Fanconi anaemia nuclear complex	chromatin binding|DNA binding|protein binding										GTTCAGCAAACAGACCATTGC	0.488												
DIRAS3	9077	broad.mit.edu	37	1	68512685	68512685	+	Missense_Mutation	SNP	C	C	G			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr1:68512685C>G	uc021ooq.1	-	0	296	c.296G>C	c.(295-297)cGc>cCc	p.R99P	GNG12-AS1_uc001deb.2_Intron|GNG12-AS1_uc001dec.2_Intron|DIRAS3_uc001ded.3_Missense_Mutation_p.R99P	NM_004675	NP_004666	O95661	DIRA3_HUMAN	Homo sapiens DIRAS family, GTP-binding RAS-like 3 (DIRAS3), mRNA.	99					regulation of cyclin-dependent protein kinase activity|regulation of gene expression by genetic imprinting|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity	p.R99H(2)		NS(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						CTGCAGAGCGCGGTTGCCGTC	0.587												
GON4L	54856	broad.mit.edu	37	1	155792117	155792117	+	Missense_Mutation	SNP	T	T	G			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr1:155792117T>G	uc001flz.2	-	3	945	c.848A>C	c.(847-849)cAg>cCg	p.Q283P	GON4L_uc001fly.1_Missense_Mutation_p.Q283P|GON4L_uc009wrh.1_Missense_Mutation_p.Q283P|GON4L_uc001fma.1_Missense_Mutation_p.Q283P|GON4L_uc001fmc.3_Missense_Mutation_p.Q283P|GON4L_uc001fmd.4_Missense_Mutation_p.Q283P|GON4L_uc009wri.3_5'UTR|GON4L_uc001fme.3_Missense_Mutation_p.Q111P|GON4L_uc001fmf.3_5'Flank	NM_001037533	NP_001032622	Q3T8J9	GON4L_HUMAN	Homo sapiens gon-4-like (C. elegans) (GON4L), transcript variant 1, mRNA.	283					regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					TAGATTGTGCTGCTTGGCACC	0.458												
OLFML2B	25903	broad.mit.edu	37	1	161993080	161993080	+	Silent	SNP	G	G	A			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr1:161993080G>A	uc010pkq.2	-	0	565	c.141C>T	c.(139-141)aaC>aaT	p.N47N	OLFML2B_uc001gbu.3_Silent_p.N47N	NM_015441	NP_056256	Q68BL8	OLM2B_HUMAN	Homo sapiens olfactomedin-like 2B (OLFML2B), mRNA.	47										breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			TGTCCGCCTCGTTTTGCAGAG	0.602												
SMG7	9887	broad.mit.edu	37	1	183514093	183514093	+	Silent	SNP	C	C	T			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr1:183514093C>T	uc001gqg.3	+	15	2266	c.2016C>T	c.(2014-2016)ccC>ccT	p.P672P	SMG7_uc010pob.2_Silent_p.P655P|SMG7_uc021pga.1_Silent_p.P584P|SMG7_uc001gqf.3_Silent_p.P626P|SMG7_uc001gqh.3_Silent_p.P626P|SMG7_uc010poc.2_Silent_p.P630P	NM_173156	NP_775179	Q92540	SMG7_HUMAN	Homo sapiens smg-7 homolog, nonsense mediated mRNA decay factor (C. elegans) (SMG7), transcript variant 1, mRNA.	672	Gln/Pro-rich.				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|intermediate filament cytoskeleton|nucleus	protein phosphatase 2A binding			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						ATGTTATCCCCCCGCCTGTGG	0.443												
FAM129A	116496	broad.mit.edu	37	1	184787863	184787863	+	Missense_Mutation	SNP	C	C	T			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr1:184787863C>T	uc001gra.3	-	8	1276	c.1082G>A	c.(1081-1083)gGa>gAa	p.G361E	FAM129A_uc001grb.1_Missense_Mutation_p.G124E|FAM129A_uc009wyh.1_Missense_Mutation_p.G189E|FAM129A_uc009wyi.1_Missense_Mutation_p.G159E	NM_052966	NP_443198	Q9BZQ8	NIBAN_HUMAN	Homo sapiens family with sequence similarity 129, member A (FAM129A), transcript variant 2, mRNA.	361					negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress	cytoplasm|nucleus|plasma membrane		p.S360*(1)		autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						TTCACTGAATCCCGAGCTCAC	0.537												
CFH	10877	broad.mit.edu	37	1	196884097	196884097	+	Missense_Mutation	SNP	A	A	C			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr1:196884097A>C	uc001gtp.3	+	8	1506	c.1369A>C	c.(1369-1371)Aag>Cag	p.K457Q	CFH_uc021pgt.1_Missense_Mutation_p.K80Q|CFH_uc009wyy.3_Missense_Mutation_p.K456Q|CFH_uc001gto.3_Missense_Mutation_p.K210Q	NM_001201550	NP_001188479	P08603	CFAH_HUMAN	Homo sapiens complement factor H-related 4 (CFHR4), transcript variant 1, mRNA.	810	Sushi 8.				complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						TTCTTCAGAAAAGTGTGGGCC	0.358												
HIST3H3	8290	broad.mit.edu	37	1	228612870	228612870	+	Missense_Mutation	SNP	G	G	A			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr1:228612870G>A	uc001hsx.1	-	0	157	c.157C>T	c.(157-159)Cgc>Tgc	p.R53C		NM_003493	NP_003484	Q16695	H31T_HUMAN	Homo sapiens histone cluster 3, H3 (HIST3H3), mRNA.	53					nucleosome assembly|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding			large_intestine(1)|lung(2)|prostate(2)|skin(1)	6		Prostate(94;0.0724)				TGGTAGCGGCGGATCTCGCGA	0.652												
CCAR1	55749	broad.mit.edu	37	10	70496806	70496806	+	Splice_Site	SNP	G	G	C			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr10:70496806G>C	uc001joo.3	+	3	365	c.246_splice	c.e3+1	p.Q82_splice	CCAR1_uc001jol.1_Splice_Site|CCAR1_uc001jom.1_Splice_Site|CCAR1_uc009xpx.1_Splice_Site_p.Q82_splice|CCAR1_uc001jon.1_Splice_Site_p.A72_splice|CCAR1_uc010qiz.1_Splice_Site_p.Q82_splice|CCAR1_uc010qja.1_Splice_Site_p.Q82_splice|CCAR1_uc010qjb.2_Splice_Site	NM_018237	NP_060707	Q8IX12	CCAR1_HUMAN	Homo sapiens cell division cycle and apoptosis regulator 1 (CCAR1), mRNA.	82					apoptosis|cell cycle|nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm|perinuclear region of cytoplasm	calcium ion binding|nucleic acid binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(7)|skin(3)	56						ATTACAACAGGTAAATCTTTA	0.393												
CRTAC1	55118	broad.mit.edu	37	10	99664517	99664517	+	Missense_Mutation	SNP	C	C	T	rs149424033		TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr10:99664517C>T	uc001kou.2	-	6	1261	c.905G>A	c.(904-906)cGt>cAt	p.R302H	CRTAC1_uc001kov.3_Missense_Mutation_p.R302H|CRTAC1_uc001kot.2_Missense_Mutation_p.R92H	NM_018058	NP_060528	Q9NQ79	CRAC1_HUMAN	Homo sapiens cartilage acidic protein 1 (CRTAC1), transcript variant 1, mRNA.	302						proteinaceous extracellular matrix	calcium ion binding	p.R302H(2)		autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(6)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	35		Colorectal(252;0.24)		Epithelial(162;2.18e-10)|all cancers(201;3.27e-09)		TTTGCCATCACGGTTGAAGTC	0.617												
RHOG	391	broad.mit.edu	37	11	3849147	3849147	+	Silent	SNP	C	C	T			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr11:3849147C>T	uc021qcn.1	-	0	222	c.222G>A	c.(220-222)caG>caA	p.Q74Q	RHOG_uc001lyu.2_Silent_p.Q74Q	NM_001665	NP_001656	P84095	RHOG_HUMAN	Homo sapiens ras homolog gene family, member G (rho G) (RHOG), mRNA.	74					actin cytoskeleton organization|activation of Rac GTPase activity|axon guidance|cell chemotaxis|platelet activation|positive regulation of cell proliferation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of transcription, DNA-dependent|Rac protein signal transduction|Rho protein signal transduction	cytosol|plasma membrane	GTP binding|GTPase activity|protein binding			endometrium(2)	2		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0349)|LUSC - Lung squamous cell carcinoma(625;0.194)		AAACGTTGGTCTGAGGGTAGG	0.602												
OR51F1	256892	broad.mit.edu	37	11	4790709	4790709	+	Missense_Mutation	SNP	C	C	A			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr11:4790709C>A	uc010qyl.2	-	0	439	c.439G>T	c.(439-441)Ggt>Tgt	p.G147C		NM_001004752	NP_001004752	A6NLW9	A6NLW9_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily F, member 1 (OR51F1), mRNA.	147						integral to membrane	olfactory receptor activity			kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.87e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0045)|LUSC - Lung squamous cell carcinoma(625;0.192)		ATCAGAAGACCCATTTGAATG	0.433												
PPP6R3	55291	broad.mit.edu	37	11	68315674	68315674	+	Splice_Site	SNP	T	T	G			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr11:68315674T>G	uc001onv.3	+	5	819	c.552_splice	c.e5+2	p.N184_splice	PPP6R3_uc010rqb.1_Splice_Site_p.N93_splice|PPP6R3_uc001onw.3_Splice_Site_p.N184_splice|PPP6R3_uc001ony.4_Splice_Site_p.N184_splice|PPP6R3_uc001onx.3_Splice_Site_p.N184_splice|PPP6R3_uc009ysh.3_Splice_Site_p.N184_splice|PPP6R3_uc001onu.3_Splice_Site_p.N184_splice|PPP6R3_uc010rqc.2_Splice_Site_p.N93_splice	NM_001164160	NP_001157632	Q5H9R7	PP6R3_HUMAN	Homo sapiens protein phosphatase 6, regulatory subunit 3 (PPP6R3), transcript variant 4, mRNA.	184					regulation of phosphoprotein phosphatase activity	cytoplasm|nucleus	protein phosphatase binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(10)|liver(2)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						GTGCTGAATGTGAGTAGAATT	0.507												
PCF11	51585	broad.mit.edu	37	11	82880169	82880169	+	Missense_Mutation	SNP	A	A	T			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr11:82880169A>T	uc001ozx.4	+	7	3137	c.2792A>T	c.(2791-2793)gAt>gTt	p.D931V	PCF11_uc010rsu.1_Missense_Mutation_p.D1062V	NM_015885	NP_056969	O94913	PCF11_HUMAN	Homo sapiens PCF11, cleavage and polyadenylation factor subunit, homolog (S. cerevisiae) (PCF11), mRNA.	931	Gly-rich.				mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage factor complex				cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1)	33						ATTAGGTTTGATGGACCTCAT	0.537												
UBTFL1	642623	broad.mit.edu	37	11	89819888	89819889	+	Frame_Shift_Ins	INS	-	-	T			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr11:89819888_89819889insT	uc010rub.2	+	0	771_772	c.771_772insT	c.(769-774)cgctggfs	p.R257fs		NM_001143975	NP_001137447	P0CB47	UBFL1_HUMAN	Homo sapiens upstream binding transcription factor, RNA polymerase I-like 1 (UBTFL1), mRNA.	257					multicellular organismal development	cytoplasm|nucleus	DNA binding										TTGGCAGACGCTGGCAGCGCAT	0.495												
CNTN5	53942	broad.mit.edu	37	11	100211381	100211382	+	Splice_Site	INS	-	-	GT			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr11:100211381_100211382insGT	uc001pga.3	+	22	3421	c.2917_splice	c.e22+1	p.P973_splice	CNTN5_uc021qpb.1_Splice_Site_p.P973_splice|CNTN5_uc021qpc.1_Splice_Site_p.P899_splice|CNTN5_uc010ruk.2_Splice_Site_p.P244_splice	NM_014361	NP_055176	O94779	CNTN5_HUMAN	Homo sapiens contactin 5 (CNTN5), transcript variant 1, mRNA.	973					cell adhesion	anchored to membrane|plasma membrane	protein binding	p.?(2)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		CAAGAAATCCCGTAAGTGACCT	0.441												
ANO2	57101	broad.mit.edu	37	12	5908716	5908716	+	Missense_Mutation	SNP	G	G	A			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr12:5908716G>A	uc001qnm.2	-	9	1072	c.1000C>T	c.(1000-1002)Cgc>Tgc	p.R334C		NM_020373	NP_065106	Q9NQ90	ANO2_HUMAN	Homo sapiens anoctamin 2 (ANO2), mRNA.	339						chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						ACTCCATAGCGCGCCCATTCT	0.423												
ABCC9	10060	broad.mit.edu	37	12	21965043	21965043	+	Missense_Mutation	SNP	G	G	T			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr12:21965043G>T	uc001rfh.3	-	33	4171	c.4151C>A	c.(4150-4152)aCa>aAa	p.T1384K	ABCC9_uc001rfi.1_Missense_Mutation_p.T1384K	NM_020297	NP_064693	O60706	ABCC9_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 9 (ABCC9), transcript variant SUR2B, mRNA.	1384	ABC transporter 2.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	AGAACGTAGTGTGTGCAGTGG	0.358												
PIWIL1	9271	broad.mit.edu	37	12	130847606	130847606	+	Silent	SNP	A	A	G			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr12:130847606A>G	uc001uik.3	+	17	2383	c.2112A>G	c.(2110-2112)gtA>gtG	p.V704V	PIWIL1_uc001uij.2_Silent_p.V704V	NM_004764	NP_004755	Q96J94	PIWL1_HUMAN	Homo sapiens piwi-like 1 (Drosophila) (PIWIL1), transcript variant 1, mRNA.	704	Piwi.				gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development	chromatoid body|P granule	mRNA binding|piRNA binding|protein binding	p.G703G(1)		breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		GCGATGGCGTAGGAGACGGCC	0.478												
FLT3	2322	broad.mit.edu	37	13	28597589	28597589	+	Missense_Mutation	SNP	T	T	A			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr13:28597589T>A	uc001urw.3	-	18	2398	c.2316A>T	c.(2314-2316)aaA>aaT	p.K772N	FLT3_uc010aao.3_Non-coding_Transcript|FLT3_uc010tdn.2_Missense_Mutation_p.K772N	NM_004119	NP_004110	P36888	FLT3_HUMAN	Homo sapiens fms-related tyrosine kinase 3 (FLT3), mRNA.	772	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)	CTTCCAGCCTTTTTTGGTTTT	0.348			"""Mis, O"""		"""AML, ALL"""							
CTAGE10P	220429	broad.mit.edu	37	13	50466990	50466990	+	Missense_Mutation	SNP	T	T	C	rs144184696	by1000genomes	TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr13:50466990T>C	uc001vdk.2	+	0	2446	c.2264T>C	c.(2263-2265)cTg>cCg	p.L755P						Homo sapiens CTAGE family, member 10, pseudogene (CTAGE10P), non-coding RNA.																		GTCTGTCCACTGAGGGGTTTT	0.517												
FAM70B	348013	broad.mit.edu	37	13	114507939	114507939	+	Missense_Mutation	SNP	G	G	A			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr13:114507939G>A	uc001vuh.3	+	7	778	c.751G>A	c.(751-753)Gca>Aca	p.A251T		NM_182614	NP_872420	Q8WV15	FA70B_HUMAN	Homo sapiens family with sequence similarity 70, member B (FAM70B), mRNA.	251						integral to membrane				upper_aerodigestive_tract(1)	1	Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_lung(25;0.123)|all_epithelial(44;0.133)	all cancers(43;0.181)			CCTGGCCTACGCAGGCTTCCG	0.677												
EDDM3B	64184	broad.mit.edu	37	14	21238424	21238424	+	Missense_Mutation	SNP	T	T	G			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr14:21238424T>G	uc021ron.1	+	0	115	c.115T>G	c.(115-117)Tta>Gta	p.L39V	EDDM3B_uc001vyd.3_Missense_Mutation_p.L39V	NM_022360	NP_071755	P56851	EP3B_HUMAN	Homo sapiens epididymal protein 3B (EDDM3B), mRNA.	39					spermatid development	extracellular region				central_nervous_system(1)|kidney(1)|lung(3)|ovary(1)|skin(1)	7						ACAGCACTACTTAAGTCCAAG	0.413												
CTSG	1511	broad.mit.edu	37	14	25042969	25042969	+	Silent	SNP	G	G	A	rs147260851	byFrequency	TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr14:25042969G>A	uc001wpq.3	-	4	679	c.642C>T	c.(640-642)atC>atT	p.I214I		NM_001911	NP_001902	P08311	CATG_HUMAN	Homo sapiens cathepsin G (CTSG), mRNA.	214	Peptidase S1.				immune response|proteolysis	cell surface|extracellular space|plasma membrane|stored secretory granule	heparin binding|serine-type endopeptidase activity			autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(265;0.0269)		CATAGGAGACGATGCCGTGGG	0.557												
CDKL1	8814	broad.mit.edu	37	14	50802891	50802891	+	Silent	SNP	A	A	G			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr14:50802891A>G	uc010anu.2	-	19	2802	c.2802T>C	c.(2800-2802)tcT>tcC	p.S934S	CDKL1_uc001wxz.3_Intron	NM_004196	NP_004187	Q00532	CDKL1_HUMAN	Homo sapiens cyclin-dependent kinase-like 1 (CDC2-related kinase) (CDKL1), mRNA.	0						cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity			endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|stomach(1)	12	all_epithelial(31;0.000746)|Breast(41;0.0102)					TCACAGCCCCAGAAGCAAGCA	0.567												
FAM181A	90050	broad.mit.edu	37	14	94394937	94394937	+	Silent	SNP	C	C	T			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr14:94394937C>T	uc001ybz.2	+	2	817	c.492C>T	c.(490-492)aaC>aaT	p.N164N	FAM181A-AS1_uc001yby.2_5'Flank|FAM181A_uc021say.1_Silent_p.N102N|FAM181A_uc021saz.1_Silent_p.N102N|FAM181A_uc010aus.2_Silent_p.N102N|FAM181A_uc001yca.2_Silent_p.N102N	NM_138344	NP_001194003	Q8N9Y4	F181A_HUMAN	Homo sapiens family with sequence similarity 181, member A (FAM181A), transcript variant 1, mRNA.	164				N -> S (in Ref. 2; BAC04151).						cervix(1)|endometrium(2)|large_intestine(8)|lung(4)|prostate(1)|skin(2)	18						TGCTGAGGAACCCCTACAGGG	0.637												
SLC12A6	9990	broad.mit.edu	37	15	34528395	34528395	+	Silent	SNP	T	T	C			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr15:34528395T>C	uc001zhw.3	-	22	3212	c.3048A>G	c.(3046-3048)caA>caG	p.Q1016Q	SLC12A6_uc001zhv.3_Silent_p.Q965Q|SLC12A6_uc001zhz.3_Non-coding_Transcript|SLC12A6_uc001zhx.3_Silent_p.Q1001Q|SLC12A6_uc001zhy.3_Non-coding_Transcript|SLC12A6_uc001zia.3_Silent_p.Q957Q|SLC12A6_uc001zib.3_Silent_p.Q1007Q|SLC12A6_uc001zic.3_Silent_p.Q1016Q|SLC12A6_uc010bau.3_Silent_p.Q1016Q|SLC12A6_uc001zid.3_Silent_p.Q957Q|SLC12A6_uc001zht.3_Non-coding_Transcript|SLC12A6_uc001zhu.3_Silent_p.Q828Q	NM_133647	NP_598408	Q9UHW9	S12A6_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporters), member 6 (SLC12A6), transcript variant 1, mRNA.	1016					angiogenesis|cellular hypotonic salinity response|potassium ion transport|sodium ion transport	basolateral plasma membrane|integral to membrane	potassium:chloride symporter activity			central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3)	45		all_lung(180;2.78e-08)		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	Potassium Chloride(DB00761)	CTTTCACCAATTGTGCCTGAG	0.413												
LMAN1L	79748	broad.mit.edu	37	15	75116023	75116023	+	Silent	SNP	G	G	A	rs147808783	byFrequency	TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr15:75116023G>A	uc002ayt.1	+	12	1325	c.1323_splice	c.e12+1	p.A441_splice	LMAN1L_uc010bke.1_Splice_Site_p.A429_splice|CPLX3_uc002ayu.1_5'Flank	NM_021819	NP_068591	Q9HAT1	LMA1L_HUMAN	Homo sapiens lectin, mannose-binding, 1 like (LMAN1L), mRNA.	441						ER-Golgi intermediate compartment membrane|integral to membrane	sugar binding			NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GGGGCCCGGCGGTGAGGGGAA	0.622												
WASH1	100287171	broad.mit.edu	37	16	66940	66940	+	Silent	SNP	G	G	A			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr16:66940G>A	uc002cfg.1	-	4	1355	c.696C>T	c.(694-696)agC>agT	p.S232S		NM_182905	NP_878908	A8K0Z3	WASH1_HUMAN	Homo sapiens WAS protein family homolog 1 (WASH1), mRNA.	219					Arp2/3 complex-mediated actin nucleation|retrograde transport, endosome to Golgi	early endosome membrane|recycling endosome membrane|WASH complex	actin binding|alpha-tubulin binding	p.S232S(1)				all_lung(41;0.218)	all_cancers(5;3.04e-16)|all_epithelial(5;4.68e-12)|all_lung(10;1.94e-10)|Lung NSC(10;3.61e-10)|Acute lymphoblastic leukemia(5;0.00439)|Breast(48;0.0148)|all_hematologic(5;0.024)|Prostate(43;0.122)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		GCTCTCTCTTGCTGATGGACA	0.597												
ZG16B	124220	broad.mit.edu	37	16	2880250	2880251	+	Frame_Shift_Ins	INS	-	-	G			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr16:2880250_2880251insG	uc002cru.3	+	0	78_79	c.2_3insG	c.(1-3)atgfs	p.M1fs		NM_145252	NP_660295	Q96DA0	ZG16B_HUMAN	Homo sapiens zymogen granule protein 16 homolog B (rat) (ZG16B), mRNA.	1						extracellular region	sugar binding			central_nervous_system(1)|lung(2)|ovary(1)|prostate(1)	5						TCCTTCTGGATGGGGGCCCAGG	0.683												
DNAH3	55567	broad.mit.edu	37	16	20974846	20974846	+	Missense_Mutation	SNP	A	A	T			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr16:20974846A>T	uc010vbe.2	-	52	10360	c.10360T>A	c.(10360-10362)Tgg>Agg	p.W3454R	DNAH3_uc010vbd.2_Missense_Mutation_p.W889R	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	3454					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TCATGGGGCCAGGCCGAGTCA	0.532												
SRCAP	10847	broad.mit.edu	37	16	30748842	30748842	+	Missense_Mutation	SNP	G	G	C			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr16:30748842G>C	uc002dze.1	+	33	7866	c.7481G>C	c.(7480-7482)tGt>tCt	p.C2494S	SRCAP_uc002dzf.3_Non-coding_Transcript|SRCAP_uc002dzg.1_Missense_Mutation_p.C2289S	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Homo sapiens Snf2-related CREBBP activator protein (SRCAP), mRNA.	2494	Pro-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity	p.P2493S(1)		NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			attcctccttgttcttctcct	0.552												
SRCAP	10847	broad.mit.edu	37	16	30748845	30748845	+	Missense_Mutation	SNP	C	C	G			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr16:30748845C>G	uc002dze.1	+	33	7869	c.7484C>G	c.(7483-7485)tCt>tGt	p.S2495C	SRCAP_uc002dzf.3_Non-coding_Transcript|SRCAP_uc002dzg.1_Missense_Mutation_p.S2290C	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Homo sapiens Snf2-related CREBBP activator protein (SRCAP), mRNA.	2495	Pro-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			cctccttgttcttctcctgcc	0.547												
ITGAD	3681	broad.mit.edu	37	16	31429674	31429674	+	Missense_Mutation	SNP	G	G	T			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr16:31429674G>T	uc010cap.1	+	21	2721	c.2672G>T	c.(2671-2673)aGg>aTg	p.R891M	ITGAD_uc002ebv.1_Missense_Mutation_p.R890M	NM_005353	NP_005344	Q13349	ITAD_HUMAN	Homo sapiens integrin, alpha D (ITGAD), mRNA.	890					cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						CTGGGAGACAGGATGCTTATG	0.572												
PLA2G15	23659	broad.mit.edu	37	16	68288909	68288909	+	Silent	SNP	G	G	A			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr16:68288909G>A	uc002evr.3	+	2	455	c.372G>A	c.(370-372)ctG>ctA	p.L124L	PLA2G15_uc010vld.2_Silent_p.L124L|PLA2G15_uc010vle.2_Nonsense_Mutation_p.W72*|PLA2G15_uc010vlf.2_Intron|PLA2G15_uc002evs.3_5'UTR	NM_012320	NP_036452	Q8NCC3	PAG15_HUMAN	Homo sapiens phospholipase A2, group XV (PLA2G15), mRNA.	124					fatty acid catabolic process	extracellular region|lysosome	lysophospholipase activity|phosphatidylcholine-sterol O-acyltransferase activity|phospholipid binding			kidney(2)|large_intestine(2)|lung(2)|ovary(2)|prostate(3)|skin(1)	12						CCTTCTCACTGGAGTTCCTGG	0.572												
ITGAE	3682	broad.mit.edu	37	17	3651273	3651273	+	Missense_Mutation	SNP	C	C	T			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr17:3651273C>T	uc002fwo.4	-	16	2197	c.2098G>A	c.(2098-2100)Gtc>Atc	p.V700I		NM_002208	NP_002199	P38570	ITAE_HUMAN	Homo sapiens integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide) (ITGAE), mRNA.	700					cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		ACATTCACGACGCCGTTGAAG	0.542												
DVL2	1856	broad.mit.edu	37	17	7134114	7134114	+	Missense_Mutation	SNP	A	A	C			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr17:7134114A>C	uc002gez.1	-	1	479	c.197T>G	c.(196-198)gTg>gGg	p.V66G	DVL2_uc010vtr.1_Missense_Mutation_p.V66G|DVL2_uc010vts.1_5'Flank|DVL2_uc010clz.1_Missense_Mutation_p.V66G	NM_004422	NP_004413	O14641	DVL2_HUMAN	Homo sapiens dishevelled, dsh homolog 2 (Drosophila) (DVL2), mRNA.	66	DIX.				canonical Wnt receptor signaling pathway involved in regulation of cell proliferation|intracellular signal transduction|neural tube closure|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|segment specification|transcription from RNA polymerase II promoter	cytosol|nucleus|plasma membrane	frizzled binding|identical protein binding|signal transducer activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(7)|skin(1)	25						TTCCTTCACCACCCTGCCAAG	0.577												
KRT16P2	400578	broad.mit.edu	37	17	16734727	16734727	+	Nonsense_Mutation	SNP	C	C	A	rs659569		TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr17:16734727C>A	uc010vwr.1	-	2	848	c.406G>T	c.(406-408)Gag>Tag	p.E136*						Homo sapiens keratin 16 pseudogene 2 (KRT16P2), non-coding RNA.									p.E226*(2)									CACACCTCCTCGTGGTTCTTC	0.632												
LGALS9B	284194	broad.mit.edu	37	17	20363749	20363749	+	Missense_Mutation	SNP	G	G	C			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr17:20363749G>C	uc002gxa.1	-	1	112	c.47C>G	c.(46-48)cCc>cGc	p.P16R	LGALS9B_uc002gwz.1_Missense_Mutation_p.P16R|LGALS9B_uc010vzh.1_Intron	NM_001042685	NP_001036150	Q3B8N2	LEG9B_HUMAN	Homo sapiens lectin, galactoside-binding, soluble, 9B (LGALS9B), mRNA.	16							sugar binding			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(2)	10						CCCAGAAAAGGGGACGGCCTG	0.602												
KRTAP4-8	728224	broad.mit.edu	37	17	39254142	39254142	+	Silent	SNP	A	A	G	rs151141551	by1000genomes	TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr17:39254142A>G	uc010wfo.2	-	0	234	c.195T>C	c.(193-195)tgT>tgC	p.C65C		NM_031960	NP_114166	Q9BYQ9	KRA48_HUMAN	Homo sapiens keratin associated protein 4-8 (KRTAP4-8), mRNA.	65	25 X 5 AA repeats of C-C-[IKRQVHEC]- [SPRT]-[STCVQPR].					keratin filament				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)	11						AGCTGGGGCGACAGCAGGTGG	0.657												
IGF2BP1	10642	broad.mit.edu	37	17	47115627	47115627	+	Missense_Mutation	SNP	C	C	T			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr17:47115627C>T	uc002iom.3	+	5	833	c.499C>T	c.(499-501)Cgc>Tgc	p.R167C	IGF2BP1_uc010dbj.3_Intron	NM_006546	NP_006537	Q9NZI8	IF2B1_HUMAN	Homo sapiens insulin-like growth factor 2 mRNA binding protein 1 (IGF2BP1), transcript variant 1, mRNA.	167					CRD-mediated mRNA stabilization|negative regulation of translation|regulation of mRNA stability involved in response to stress	CRD-mediated mRNA stability complex|cytosol|dendritic spine|lamellipodium|nucleus|plasma membrane|stress granule	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						TGAGAATGGGCGCCGAGGGGG	0.637												
TNFSF14	8740	broad.mit.edu	37	19	6669978	6669978	+	Missense_Mutation	SNP	C	C	A			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr19:6669978C>A	uc002mfk.2	-	1	485	c.103G>T	c.(103-105)Gtg>Ttg	p.V35L	TNFSF14_uc002mfj.2_Missense_Mutation_p.V35L	NM_003807	NP_003798	O43557	TNF14_HUMAN	Homo sapiens tumor necrosis factor (ligand) superfamily, member 14 (TNFSF14), transcript variant 1, mRNA.	35					cellular response to mechanical stimulus|immune response|induction of apoptosis|release of cytoplasmic sequestered NF-kappaB|T cell homeostasis|T cell proliferation	cytoplasm|extracellular space|integral to membrane|plasma membrane	caspase inhibitor activity|cytokine activity|tumor necrosis factor receptor binding			breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18						ACCCGGGCCACACTGCACGAC	0.632												
ZNF560	147741	broad.mit.edu	37	19	9579010	9579010	+	Missense_Mutation	SNP	C	C	T			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr19:9579010C>T	uc002mlp.1	-	10	823	c.613_splice	c.e10-1	p.A205_splice	ZNF560_uc010dwr.1_Splice_Site_p.A99_splice	NM_152476	NP_689689	Q96MR9	ZN560_HUMAN	Homo sapiens zinc finger protein 560 (ZNF560), mRNA.	205					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						TGGTTTCTTGCCTGTTAACAC	0.338												
OR1I1	126370	broad.mit.edu	37	19	15198267	15198267	+	Missense_Mutation	SNP	C	C	T			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr19:15198267C>T	uc010xoe.2	+	0	391	c.391C>T	c.(391-393)Cgt>Tgt	p.R131C		NM_001004713	NP_001004713	O60431	OR1I1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily I, member 1 (OR1I1), mRNA.	131					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(3)|ovary(2)|stomach(2)	20						CCACCCACAGCGTTACTTGGT	0.567												
NLRP4	147945	broad.mit.edu	37	19	56388509	56388509	+	Silent	SNP	G	G	A			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr19:56388509G>A	uc002qmd.4	+	7	3095	c.2673G>A	c.(2671-2673)acG>acA	p.T891T	NLRP4_uc002qmf.3_Silent_p.T816T|NLRP4_uc010etf.3_Silent_p.T666T	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN	Homo sapiens NLR family, pyrin domain containing 4 (NLRP4), mRNA.	891							ATP binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		TGACGCATACGGATTGCCGCT	0.478												
GPR75-ASB3	51130	broad.mit.edu	37	2	53941692	53941692	+	Missense_Mutation	SNP	G	G	A			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr2:53941692G>A	uc002rxi.4	-	6	1028	c.923C>T	c.(922-924)aCt>aTt	p.T308I	GPR75-ASB3_uc021vhl.1_Missense_Mutation_p.T197I|GPR75-ASB3_uc002rxg.2_Missense_Mutation_p.T270I|GPR75-ASB3_uc002rxh.2_Missense_Mutation_p.T197I|GPR75-ASB3_uc010yoo.2_Missense_Mutation_p.T187I	NM_001164165	NP_665862	Q2TAI4	Q2TAI4_HUMAN	Homo sapiens GPR75-ASB3 readthrough (GPR75-ASB3), mRNA.	305					intracellular signal transduction												GGCCCGGTTAGTAAGTGGTAT	0.393												
RGPD5	84220	broad.mit.edu	37	2	113127775	113127775	+	Missense_Mutation	SNP	G	G	C			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr2:113127775G>C	uc002ths.2	-	22	5470	c.5278C>G	c.(5278-5280)Cct>Gct	p.P1760A	RGPD5_uc010fkk.2_Missense_Mutation_p.P1620A	NM_005054	NP_001157935	Q99666	RGPD5_HUMAN	Homo sapiens RANBP2-like and GRIP domain containing 5 (RGPD5), transcript variant 1, mRNA.	1760					intracellular transport	cytoplasm	binding	p.P1760A(12)		central_nervous_system(1)	1						GAACGGGAAGGATTTTCTTCC	0.308												
DPP10	57628	broad.mit.edu	37	2	116593731	116593731	+	Splice_Site	SNP	A	A	G			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr2:116593731A>G	uc002tle.3	+	22	1984	c.1963_splice	c.e22-2	p.G655_splice	DPP10_uc002tla.2_Splice_Site_p.G651_splice|DPP10_uc002tlb.2_Splice_Site_p.G601_splice|DPP10_uc002tlc.2_Splice_Site_p.G647_splice|DPP10_uc002tlf.2_Splice_Site_p.G644_splice	NM_001178034	NP_001171505	Q8N608	DPP10_HUMAN	Homo sapiens dipeptidyl-peptidase 10 (non-functional) (DPP10), transcript variant 3, mRNA.	651					proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						TTTCCCCCCCAGGGTTATGGT	0.333												
RBM45	129831	broad.mit.edu	37	2	178990756	178990756	+	Silent	SNP	T	T	C			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr2:178990756T>C	uc002ulv.3	+	8	1370	c.1278T>C	c.(1276-1278)aaT>aaC	p.N426N		NM_152945	NP_694453	Q8IUH3	RBM45_HUMAN	Homo sapiens RNA binding motif protein 45 (RBM45), mRNA.	428	RRM 3.				cell differentiation|nervous system development	cytoplasm|nucleus	nucleotide binding|RNA binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.00957)|all cancers(119;0.037)			CAGGAAAAAATGTGGGGTATG	0.383												
ZDBF2	57683	broad.mit.edu	37	2	207169709	207169709	+	Missense_Mutation	SNP	C	C	T			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr2:207169709C>T	uc002vbp.2	+	4	707	c.457C>T	c.(457-459)Cat>Tat	p.H153Y		NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN	Homo sapiens zinc finger, DBF-type containing 2 (ZDBF2), mRNA.	153							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						GGAGTTTGTTCATAAAATTGG	0.448												
BARD1	580	broad.mit.edu	37	2	215609857	215609857	+	Frame_Shift_Del	DEL	C	C	-			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr2:215609857delC	uc002veu.2	-	8	1972	c.1837delG	c.(1837-1839)gcafs	p.A613fs	BARD1_uc021vwe.1_Frame_Shift_Del_p.A594fs|BARD1_uc021vwf.1_Frame_Shift_Del_p.A516fs|BARD1_uc021vwg.1_Frame_Shift_Del_p.A162fs|BARD1_uc021vwh.1_Frame_Shift_Del_p.A143fs|BARD1_uc021vwi.1_Intron|BARD1_uc021vwc.1_Intron|BARD1_uc021vwd.1_Frame_Shift_Del_p.A179fs|BARD1_uc010zjm.1_Frame_Shift_Del_p.A469fs	NM_000465	NP_000456	Q99728	BARD1_HUMAN	Homo sapiens BRCA1 associated RING domain 1 (BARD1), mRNA.	613	BRCT 1.				cell cycle arrest|DNA repair|negative regulation of apoptosis|negative regulation of mRNA 3'-end processing|negative regulation of protein export from nucleus|positive regulation of apoptosis|positive regulation of protein catabolic process|protein K6-linked ubiquitination|regulation of phosphorylation|tissue homeostasis	BRCA1-A complex|BRCA1-BARD1 complex|cytoplasm	kinase binding|protein heterodimerization activity|protein homodimerization activity|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			NS(2)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|prostate(4)|upper_aerodigestive_tract(1)	35		Renal(323;0.0243)		Epithelial(149;3.2e-06)|all cancers(144;0.000461)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		CTTTGAACTGCATCACCAGGA	0.338									Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome			
STK35	140901	broad.mit.edu	37	20	2097899	2097899	+	Missense_Mutation	SNP	C	C	T			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr20:2097899C>T	uc002wfw.4	+	2	1480	c.1480C>T	c.(1480-1482)Cgc>Tgc	p.R494C	STK35_uc010zpu.2_Intron	NM_080836	NP_543026	Q8TDR2	STK35_HUMAN	Homo sapiens serine/threonine kinase 35 (STK35), mRNA.	494	Protein kinase.					cytoplasm|nucleolus	ATP binding|protein serine/threonine kinase activity			large_intestine(2)|liver(2)|lung(6)|ovary(1)|prostate(2)	13						CCCCCAAAAACGCAGGACTTC	0.512												
TRMT6	51605	broad.mit.edu	37	20	5925484	5925485	+	Frame_Shift_Del	DEL	TA	TA	-			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr20:5925484_5925485delTA	uc002wmh.1	-	2	454_455	c.332_333delTA	c.(331-333)atafs	p.I111fs	TRMT6_uc010zra.1_Intron|TRMT6_uc010gbn.1_Intron|TRMT6_uc010gbo.1_Non-coding_Transcript	NM_015939	NP_057023	Q9UJA5	TRM6_HUMAN	Homo sapiens tRNA methyltransferase 6 homolog (S. cerevisiae) (TRMT6), mRNA.	111					regulation of translational initiation|tRNA processing	nucleus	protein binding|translation initiation factor activity			breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)	15						TCAAAGCTTTTATGTCATCTTG	0.342												
CHD6	84181	broad.mit.edu	37	20	40043955	40043955	+	Silent	SNP	T	T	C			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr20:40043955T>C	uc002xka.1	-	33	6988	c.6810A>G	c.(6808-6810)ggA>ggG	p.G2270G	CHD6_uc002xjz.1_5'Flank	NM_032221	NP_115597	Q8TD26	CHD6_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 6 (CHD6), mRNA.	2270					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				TGACAATCTGTCCAGTCACAG	0.537												
SYS1	90196	broad.mit.edu	37	20	43995683	43995683	+	Silent	SNP	C	C	T			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr20:43995683C>T	uc021weh.1	+	4	642	c.399C>T	c.(397-399)atC>atT	p.I133I	SYS1_uc002xnv.3_Silent_p.I133I|SYS1_uc002xnw.2_Intron|SYS1_uc010gha.3_Non-coding_Transcript|DBNDD2_uc002xnx.3_Intron	NM_001197129	NP_001184058	Q8N2H4	SYS1_HUMAN	Homo sapiens SYS1 Golgi-localized integral membrane protein homolog (S. cerevisiae) (SYS1), transcript variant 3, mRNA.	133					protein transport	Golgi membrane|integral to membrane				cervix(1)|endometrium(2)|large_intestine(2)|prostate(1)|skin(1)	7		Myeloproliferative disorder(115;0.0122)				TGGCTGTCATCGGGGAGTACC	0.577												
TSHZ2	128553	broad.mit.edu	37	20	51870964	51870964	+	Missense_Mutation	SNP	C	C	T			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr20:51870964C>T	uc002xwo.3	+	1	1854	c.967C>T	c.(967-969)Cgc>Tgc	p.R323C	TSHZ2_uc021wex.1_Missense_Mutation_p.R320C	NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	Homo sapiens teashirt zinc finger homeobox 2 (TSHZ2), transcript variant 1, mRNA.	323					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R323L(1)		NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			GGCTAAGAAACGCGTTTTTGA	0.453												
SLC5A3	6526	broad.mit.edu	37	21	35468403	35468404	+	Frame_Shift_Ins	INS	-	-	G			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr21:35468403_35468404insG	uc021wir.1	+	0	906_907	c.906_907insG	c.(904-909)gctggcfs	p.A302fs	SLC5A3_uc002yto.3_Frame_Shift_Ins_p.A302fs|MRPS6_uc002ytp.2_Intron	NM_006933	NP_008864	P53794	SC5A3_HUMAN	Homo sapiens solute carrier family 5 (sodium/myo-inositol cotransporter), member 3 (SLC5A3), mRNA.	302						integral to plasma membrane	myo-inositol:sodium symporter activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	20						CTCTTATGGCTGGCTTCTTAAA	0.470												
CSF2RB	1439	broad.mit.edu	37	22	37326752	37326752	+	Missense_Mutation	SNP	G	G	A			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr22:37326752G>A	uc003aqa.4	+	7	1109	c.892G>A	c.(892-894)Ggc>Agc	p.G298S	CSF2RB_uc003aqc.4_Missense_Mutation_p.G304S	NM_000395	NP_000386	P32927	IL3RB_HUMAN	Homo sapiens colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage) (CSF2RB), mRNA.	298					respiratory gaseous exchange	granulocyte macrophage colony-stimulating factor receptor complex	cytokine receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42					Sargramostim(DB00020)	GGAGGGGCTCGGCAGCCTCCA	0.647												
ENTHD1	150350	broad.mit.edu	37	22	40283548	40283548	+	Missense_Mutation	SNP	G	G	A			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr22:40283548G>A	uc003ayg.3	-	1	456	c.205C>T	c.(205-207)Cgc>Tgc	p.R69C		NM_152512	NP_689725	Q8IYW4	ENTD1_HUMAN	Homo sapiens ENTH domain containing 1 (ENTHD1), mRNA.	69	ENTH.							p.R69C(2)		breast(2)|endometrium(1)|kidney(6)|large_intestine(6)|lung(11)|ovary(3)|skin(3)	32	Melanoma(58;0.0749)					TACACGTGGCGCCAGTTCTTC	0.403												
CYP2D6	1565	broad.mit.edu	37	22	42524294	42524294	+	Missense_Mutation	SNP	C	C	T			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr22:42524294C>T	uc003bce.3	-	4	815	c.725G>A	c.(724-726)cGc>cAc	p.R242H	LOC100132273_uc003bcd.1_Intron|CYP2D6_uc010gyu.3_5'UTR|CYP2D6_uc003bcf.3_Missense_Mutation_p.R191H	NM_000106	NP_000097	Q6NWU0	Q6NWU0_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily D, polypeptide 6 (CYP2D6), transcript variant 1, mRNA.	242							electron carrier activity|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen	p.D241N(1)		NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(4)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						CTTTTGGAAGCGTAGGACCTT	0.607												
XIRP1	165904	broad.mit.edu	37	3	39225931	39225931	+	Missense_Mutation	SNP	G	G	T			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr3:39225931G>T	uc003cjk.2	-	1	5235	c.5006C>A	c.(5005-5007)tCc>tAc	p.S1669Y	XIRP1_uc003cji.3_3'UTR|XIRP1_uc003cjj.3_Missense_Mutation_p.S352Y|XIRP1_uc021wvz.1_Missense_Mutation_p.S1669Y	NM_194293	NP_919269	Q702N8	XIRP1_HUMAN	Homo sapiens xin actin-binding repeat containing 1 (XIRP1), transcript variant 1, mRNA.	1669							actin binding			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		AAATGTTGGGGAGGAGGGAGA	0.537												
KALRN	8997	broad.mit.edu	37	3	124053259	124053259	+	Missense_Mutation	SNP	C	C	T	rs147539685		TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr3:124053259C>T	uc003ehg.3	+	8	1685	c.1558C>T	c.(1558-1560)Cgg>Tgg	p.R520W	KALRN_uc010hrv.1_Missense_Mutation_p.R520W|KALRN_uc003ehf.1_Missense_Mutation_p.R520W|KALRN_uc011bjy.1_Missense_Mutation_p.R520W	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	Homo sapiens kalirin, RhoGEF kinase (KALRN), transcript variant 1, mRNA.	520					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						TCACCAGCGACGGCTGGAGAG	0.622												
MSL2	55167	broad.mit.edu	37	3	135870091	135870091	+	Missense_Mutation	SNP	A	A	T			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr3:135870091A>T	uc003eqx.1	-	1	2365	c.1632T>A	c.(1630-1632)agT>agA	p.S544R	MSL2_uc011bmb.1_Missense_Mutation_p.S470R|MSL2_uc021xel.1_Missense_Mutation_p.S470R	NM_018133	NP_001138889	Q9HCI7	MSL2_HUMAN	Homo sapiens male-specific lethal 2 homolog (Drosophila) (MSL2), transcript variant 1, mRNA.	544					histone H4-K16 acetylation	MSL complex	zinc ion binding	p.S544I(1)		breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	18						CATTTATTACACTGGTGCTGG	0.468												
AASDH	132949	broad.mit.edu	37	4	57220268	57220269	+	Frame_Shift_Ins	INS	-	-	A	rs148777026		TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr4:57220268_57220269insA	uc003hbn.3	-	7	1472_1473	c.1319_1320insT	c.(1318-1320)ttgfs	p.L440fs	AASDH_uc010ihb.3_5'UTR|AASDH_uc003hbo.3_Frame_Shift_Ins_p.L340fs|AASDH_uc011caa.2_Frame_Shift_Ins_p.L287fs|AASDH_uc011cab.2_Intron|AASDH_uc010ihc.3_Frame_Shift_Ins_p.L440fs|AASDH_uc003hbp.3_Frame_Shift_Ins_p.L440fs	NM_181806	NP_861522	Q4L235	ACSF4_HUMAN	Homo sapiens aminoadipate-semialdehyde dehydrogenase (AASDH), mRNA.	440					fatty acid metabolic process		acid-thiol ligase activity|acyl carrier activity|ATP binding|cofactor binding	p.?(1)		endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	40	Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.0017)				CTTTTCGTCCCAAAAAAAAAAT	0.361												
AFM	173	broad.mit.edu	37	4	74361147	74361147	+	Missense_Mutation	SNP	G	G	A			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr4:74361147G>A	uc003hhb.3	+	8	1220	c.1189G>A	c.(1189-1191)Gcg>Acg	p.A397T		NM_001133	NP_001124	P43652	AFAM_HUMAN	Homo sapiens afamin (AFM), mRNA.	397	Albumin 2.				vitamin transport		vitamin E binding			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	Breast(15;0.00102)		Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TTACCGTTACGCGGTAGGTTC	0.378												
GRID2	2895	broad.mit.edu	37	4	94316790	94316790	+	Missense_Mutation	SNP	T	T	G			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr4:94316790T>G	uc011cdt.2	+	8	1536	c.1278T>G	c.(1276-1278)aaT>aaG	p.N426K	GRID2_uc011cdu.2_Missense_Mutation_p.N331K	NM_001510	NP_001501	O43424	GRID2_HUMAN	Homo sapiens glutamate receptor, ionotropic, delta 2 (GRID2), mRNA.	426					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	CAGGTCTGAATGGGTCACTGA	0.433												
ADAM29	11086	broad.mit.edu	37	4	175898213	175898213	+	Missense_Mutation	SNP	G	G	A			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr4:175898213G>A	uc003iuc.3	+	4	2207	c.1537G>A	c.(1537-1539)Gca>Aca	p.A513T	ADAM29_uc003iud.3_Missense_Mutation_p.A513T|ADAM29_uc010irr.3_Missense_Mutation_p.A513T|ADAM29_uc011cki.2_Missense_Mutation_p.A513T|ADAM29_uc021xuo.1_Missense_Mutation_p.A513T	NM_014269	NP_055084	Q9UKF5	ADA29_HUMAN	Homo sapiens ADAM metallopeptidase domain 29 (ADAM29), transcript variant 1, mRNA.	513	Cys-rich.				proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding	p.A513T(4)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		TGGTGCAGGCGCAAATACTGC	0.418												
TRIML1	339976	broad.mit.edu	37	4	189060967	189060967	+	Silent	SNP	G	G	A			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr4:189060967G>A	uc003izm.1	+	0	370	c.255G>A	c.(253-255)gtG>gtA	p.V85V		NM_178556	NP_848651	Q8N9V2	TRIML_HUMAN	Homo sapiens tripartite motif family-like 1 (TRIML1), mRNA.	85					multicellular organismal development		ligase activity|zinc ion binding			NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		GGTCCCAGGTGCTGCAGAGCG	0.652												
PCDHGC5	8641	broad.mit.edu	37	5	140769313	140769313	+	Missense_Mutation	SNP	C	C	T			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr5:140769313C>T	uc003lkc.2	+	0	1862	c.1862C>T	c.(1861-1863)aCg>aTg	p.T621M	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkb.4_5'UTR	NM_003736	NP_003727	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 4 (PCDHGB4), transcript variant 1, mRNA.	625	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGCTGCGCACGGGCGAAGTG	0.692												
ATP10B	23120	broad.mit.edu	37	5	160061402	160061402	+	Missense_Mutation	SNP	C	C	T			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr5:160061402C>T	uc003lym.1	-	11	2187	c.1340G>A	c.(1339-1341)cGt>cAt	p.R447H	ATP10B_uc003lyp.2_Missense_Mutation_p.R447H|ATP10B_uc011deg.1_Missense_Mutation_p.R491H|ATP10B_uc003lyn.3_Missense_Mutation_p.R5H|ATP10B_uc003lyo.2_Missense_Mutation_p.R419H	NM_025153	NP_079429	O94823	AT10B_HUMAN	Homo sapiens ATPase, class V, type 10B (ATP10B), mRNA.	447					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	p.R447C(1)		NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GATGGTGCAACGTCGGAACAC	0.507												
PTCHD4	442213	broad.mit.edu	37	6	47976383	47976383	+	Silent	SNP	C	C	T			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr6:47976383C>T	uc011dwm.2	-	1	928	c.894G>A	c.(892-894)ccG>ccA	p.P298P	PTCHD4_uc011dwn.2_Silent_p.P45P|PTCHD4_uc003ozf.2_Silent_p.P298P	NM_001013732	NP_001013754	Q6ZW05	CF138_HUMAN	Homo sapiens chromosome 6 open reading frame 138 (C6orf138), transcript variant 1, mRNA.	298	SSD.					integral to membrane	hedgehog receptor activity										TGGCGAAGAACGGGATTCCCA	0.488												
DEFB114	245928	broad.mit.edu	37	6	49928111	49928111	+	Missense_Mutation	SNP	C	C	T	rs146020038		TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr6:49928111C>T	uc011dwp.2	-	1	104	c.104G>A	c.(103-105)cGt>cAt	p.R35H		NM_001037499	NP_001032588	Q30KQ6	DB114_HUMAN	Homo sapiens defensin, beta 114 (DEFB114), mRNA.	35					defense response to bacterium	extracellular region				kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	8	Lung NSC(77;0.042)					TCTTTTACAACGACCGTAACG	0.353												
CD109	135228	broad.mit.edu	37	6	74475666	74475666	+	Missense_Mutation	SNP	G	G	A			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr6:74475666G>A	uc003php.3	+	10	1552	c.1121G>A	c.(1120-1122)cGt>cAt	p.R374H	CD109_uc003phq.3_Missense_Mutation_p.R374H|CD109_uc010kba.3_Missense_Mutation_p.R297H	NM_133493	NP_598000	Q6YHK3	CD109_HUMAN	Homo sapiens CD109 molecule (CD109), transcript variant 1, mRNA.	374						anchored to membrane|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						AAGGTAACTCGTGCTGATGGC	0.358												
TTLL2	83887	broad.mit.edu	37	6	167754816	167754816	+	Silent	SNP	G	G	C			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr6:167754816G>C	uc003qvs.1	+	2	1516	c.1428G>C	c.(1426-1428)gtG>gtC	p.V476V		NM_031949	NP_114155	Q9BWV7	TTLL2_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 2 (TTLL2), mRNA.	476					protein modification process		ATP binding|tubulin-tyrosine ligase activity			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(66;7.8e-06)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		AGAAAGCTGTGAGTGTGCGTC	0.512												
PRKAR1B	5575	broad.mit.edu	37	7	618975	618975	+	Missense_Mutation	SNP	G	G	A			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr7:618975G>A	uc003siu.2	-	8	942	c.809C>T	c.(808-810)gCg>gTg	p.A270V	PRKAR1B_uc021zyi.1_Missense_Mutation_p.A270V|PRKAR1B_uc003siv.3_Missense_Mutation_p.A270V|PRKAR1B_uc021zyj.1_Missense_Mutation_p.A270V|PRKAR1B_uc021zyk.1_Missense_Mutation_p.A270V|PRKAR1B_uc003siw.2_Missense_Mutation_p.A270V|PRKAR1B_uc003six.1_Non-coding_Transcript	NM_002735	NP_002726	P31321	KAP1_HUMAN	Homo sapiens protein kinase, cAMP-dependent, regulatory, type I, beta (PRKAR1B), transcript variant 2, mRNA.	270				A -> R (in Ref. 1; AAC37564).	activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|protein phosphorylation|regulation of insulin secretion|transmembrane transport|water transport	cAMP-dependent protein kinase complex|cytosol	cAMP binding|cAMP-dependent protein kinase regulator activity			endometrium(4)|large_intestine(1)|liver(1)|lung(10)|prostate(1)	17		Ovarian(82;0.0779)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|Epithelial(4;5.75e-19)|OV - Ovarian serous cystadenocarcinoma(56;2.01e-18)|all cancers(6;3.96e-16)|BRCA - Breast invasive adenocarcinoma(126;0.152)		GGGCTCCAGCGCATCCGCCAC	0.612												
NUPL2	11097	broad.mit.edu	37	7	23239787	23239787	+	Missense_Mutation	SNP	G	G	A			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr7:23239787G>A	uc003svu.3	+	7	954	c.695_splice	c.e7-1	p.G232_splice	NUPL2_uc003svv.3_Splice_Site|NUPL2_uc011jyw.2_Splice_Site|NUPL2_uc011jyx.2_Splice_Site_p.G4_splice	NM_007342	NP_031368	O15504	NUPL2_HUMAN	Homo sapiens nucleoporin like 2 (NUPL2), mRNA.	232					carbohydrate metabolic process|glucose transport|mRNA transport|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nuclear pore	nuclear export signal receptor activity|nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						ttgttTGTAGGCTTTCCAGTC	0.353												
STK31	56164	broad.mit.edu	37	7	23825130	23825130	+	Nonsense_Mutation	SNP	C	C	T			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr7:23825130C>T	uc003sws.4	+	17	2249	c.2182C>T	c.(2182-2184)Cga>Tga	p.R728*	STK31_uc003swt.4_Nonsense_Mutation_p.R705*|STK31_uc011jze.2_Nonsense_Mutation_p.R728*|STK31_uc010kuq.3_Nonsense_Mutation_p.R705*|STK31_uc003swv.1_5'Flank	NM_031414	NP_116562	Q9BXU1	STK31_HUMAN	Homo sapiens serine/threonine kinase 31 (STK31), transcript variant 1, mRNA.	728	Protein kinase.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity	p.R728*(2)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						GAGCTTGGAACGAGATCTTCT	0.403												
WNT2	7472	broad.mit.edu	37	7	116960726	116960726	+	Missense_Mutation	SNP	C	C	T			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr7:116960726C>T	uc003viz.3	-	1	505	c.205G>A	c.(205-207)Gtg>Atg	p.V69M	WNT2_uc003vja.3_5'UTR	NM_003391	NP_003382	P09544	WNT2_HUMAN	Homo sapiens wingless-type MMTV integration site family member 2 (WNT2), transcript variant 1, mRNA.	69					atrial cardiac muscle tissue morphogenesis|canonical Wnt receptor signaling pathway|cardiac epithelial to mesenchymal transition|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|dorsal/ventral axis specification|iris morphogenesis|labyrinthine layer blood vessel development|lens development in camera-type eye|lung induction|mammary gland epithelium development|neuron differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of fibroblast proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, calcium modulating pathway	cytoplasm|extracellular space|proteinaceous extracellular matrix	cytokine activity|frizzled binding|frizzled-2 binding|signal transducer activity	p.G68D(1)		breast(2)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|ovary(3)|prostate(1)|skin(2)	31	all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		CACTCGGCCACGCCCTGGCTA	0.602												
MGAM	8972	broad.mit.edu	37	7	141759386	141759386	+	Missense_Mutation	SNP	G	G	A			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr7:141759386G>A	uc003vwy.3	+	31	3988	c.3934G>A	c.(3934-3936)Gtc>Atc	p.V1312I		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	1312	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TGGGATGCGGGTCATCCTCAT	0.507												
STC1	6781	broad.mit.edu	37	8	23709003	23709003	+	Silent	SNP	G	G	A			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr8:23709003G>A	uc003xdw.1	-	2	587	c.303C>T	c.(301-303)aaC>aaT	p.N101N		NM_003155	NP_003146	P52823	STC1_HUMAN	Homo sapiens stanniocalcin 1 (STC1), mRNA.	101					cell surface receptor linked signaling pathway|cell-cell signaling|cellular calcium ion homeostasis		hormone activity	p.A100V(1)|p.A100T(1)		breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26		Prostate(55;0.055)|Breast(100;0.116)		Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632)		AGGTGACCCCGTTGGCGATGC	0.517												
UNC5D	137970	broad.mit.edu	37	8	35407016	35407016	+	Missense_Mutation	SNP	G	G	C			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr8:35407016G>C	uc003xjr.2	+	1	638	c.310G>C	c.(310-312)Gac>Cac	p.D104H	UNC5D_uc003xjs.2_Missense_Mutation_p.D99H	NM_080872	NP_543148	Q6UXZ4	UNC5D_HUMAN	Homo sapiens unc-5 homolog D (C. elegans) (UNC5D), mRNA.	104	Ig-like.				apoptosis|axon guidance	integral to membrane	receptor activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		AGAGACTCTGGACGAGAGCTC	0.522												
PTDSS1	9791	broad.mit.edu	37	8	97285591	97285591	+	Missense_Mutation	SNP	A	A	G			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr8:97285591A>G	uc003yht.1	+	1	346	c.244A>G	c.(244-246)Atc>Gtc	p.I82V	PTDSS1_uc003yhu.1_5'UTR	NM_014754	NP_055569	P48651	PTSS1_HUMAN	Homo sapiens phosphatidylserine synthase 1 (PTDSS1), mRNA.	82					phosphatidylserine biosynthetic process	integral to membrane	transferase activity			endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|stomach(1)	29	Breast(36;6.18e-05)				Phosphatidylserine(DB00144)	CTTCTTTCTTATCATCAGTGT	0.373												
TEK	7010	broad.mit.edu	37	9	27217701	27217701	+	Missense_Mutation	SNP	C	C	T			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr9:27217701C>T	uc011lno.2	+	17	3320	c.2878C>T	c.(2878-2880)Cgc>Tgc	p.R960C	TEK_uc003zqi.4_Missense_Mutation_p.R1003C|TEK_uc011lnp.2_Missense_Mutation_p.R855C	NM_000459	NP_000450	Q02763	TIE2_HUMAN	Homo sapiens TEK tyrosine kinase, endothelial (TEK), mRNA.	1003	Protein kinase.				angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)		GCTCCCAGTGCGCTGGATGGC	0.483												
ZNF618	114991	broad.mit.edu	37	9	116811355	116811355	+	Silent	SNP	C	C	T			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr9:116811355C>T	uc004bid.3	+	14	1872	c.1773C>T	c.(1771-1773)agC>agT	p.S591S	ZNF618_uc004bic.3_Silent_p.S498S|ZNF618_uc011lxi.2_Silent_p.S558S|ZNF618_uc011lxj.2_Silent_p.S559S|ZNF618_uc010mvb.3_Silent_p.S181S	NM_133374	NP_588615	Q5T7W0	ZN618_HUMAN	Homo sapiens zinc finger protein 618 (ZNF618), mRNA.	591					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|lung(10)|urinary_tract(1)	16						TTCGCGACAGCGGTGACCTTG	0.592												
RABGAP1	23637	broad.mit.edu	37	9	125748579	125748579	+	Silent	SNP	G	G	T			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr9:125748579G>T	uc011lzh.2	+	3	605	c.471G>T	c.(469-471)tcG>tcT	p.S157S	RABGAP1_uc004bnl.4_Non-coding_Transcript|RABGAP1_uc004bnm.1_Silent_p.S157S	NM_012197	NP_036329	Q9Y3P9	RBGP1_HUMAN	Homo sapiens RAB GTPase activating protein 1 (RABGAP1), mRNA.	157	PID.				cell cycle	centrosome|cytosol|microtubule associated complex	Rab GTPase activator activity|tubulin binding			breast(3)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|prostate(4)|stomach(3)|upper_aerodigestive_tract(1)	41						GCTGTGCCTCGGTAAATGCTC	0.453												
CAMSAP1	157922	broad.mit.edu	37	9	138714648	138714648	+	Missense_Mutation	SNP	G	G	A			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr9:138714648G>A	uc004cgr.4	-	10	1859	c.1859C>T	c.(1858-1860)cCg>cTg	p.P620L	CAMSAP1_uc004cgq.4_Missense_Mutation_p.P510L|CAMSAP1_uc010nbg.3_Missense_Mutation_p.P342L	NM_015447	NP_056262	Q5T5Y3	CAMP1_HUMAN	Homo sapiens calmodulin regulated spectrin-associated protein 1 (CAMSAP1), mRNA.	620						cytoplasm|microtubule				breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		GATGCTCCTCGGTCTCCCTTC	0.542												
TBL1X	6907	broad.mit.edu	37	X	9656243	9656243	+	Missense_Mutation	SNP	G	G	A			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chrX:9656243G>A	uc004csr.3	+	6	1031	c.544G>A	c.(544-546)Gtt>Att	p.V182I	TBL1X_uc004csq.4_Missense_Mutation_p.V131I|TBL1X_uc010ndr.3_Missense_Mutation_p.V131I|TBL1X_uc010ndq.3_Missense_Mutation_p.V182I|TBL1X_uc004css.3_Missense_Mutation_p.V133I	NM_005647	NP_001132940	O60907	TBL1X_HUMAN	Homo sapiens transducin (beta)-like 1X-linked (TBL1X), transcript variant 1, mRNA.	182					canonical Wnt receptor signaling pathway|cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|proteasomal ubiquitin-dependent protein catabolic process|sensory perception of sound|transcription, DNA-dependent	spindle microtubule|transcriptional repressor complex	beta-catenin binding|histone binding|protein C-terminus binding|protein domain specific binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(2)|cervix(1)|endometrium(5)|large_intestine(7)|lung(2)|ovary(1)|skin(2)	20		Hepatocellular(5;0.000888)				CTCAGCCGGCGTTTCCCACCA	0.632												
POLA1	5422	broad.mit.edu	37	X	24759540	24759540	+	Silent	SNP	C	C	T			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chrX:24759540C>T	uc004dbl.3	+	20	2262	c.2247C>T	c.(2245-2247)gcC>gcT	p.A749A		NM_016937	NP_058633	P09884	DPOLA_HUMAN	Homo sapiens polymerase (DNA directed), alpha 1, catalytic subunit (POLA1), mRNA.	749					cell proliferation|DNA replication checkpoint|DNA replication, synthesis of RNA primer|DNA-dependent DNA replication initiation|double-strand break repair via nonhomologous end joining|interspecies interaction between organisms|lagging strand elongation|leading strand elongation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|cytoplasm|nuclear envelope|nuclear matrix|nucleolus|nucleoplasm	chromatin binding|DNA-directed DNA polymerase activity|metal ion binding|nucleoside binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|skin(2)	11					Clofarabine(DB00631)|Fludarabine(DB01073)	GGAAAGATGCCAAGTTCATTT	0.348												
SATL1	340562	broad.mit.edu	37	X	84362599	84362599	+	Missense_Mutation	SNP	G	G	A			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chrX:84362599G>A	uc004een.3	-	0	1376	c.1376C>T	c.(1375-1377)cCa>cTa	p.P459L		NM_001012980	NP_001012998	Q86VE3	SATL1_HUMAN	Homo sapiens spermidine/spermine N1-acetyl transferase-like 1 (SATL1), mRNA.	272	N-acetyltransferase.						N-acetyltransferase activity			NS(1)|breast(5)|endometrium(2)|large_intestine(3)|lung(13)|skin(3)|stomach(1)|urinary_tract(1)	29						GCTAGTGCCTGGTTGTCTCAT	0.592												
PCDH11X	27328	broad.mit.edu	37	X	91132676	91132676	+	Missense_Mutation	SNP	C	C	G			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chrX:91132676C>G	uc004efk.2	+	1	2282	c.1437C>G	c.(1435-1437)aaC>aaG	p.N479K	PCDH11X_uc004efl.2_Missense_Mutation_p.N479K|PCDH11X_uc010nmv.2_Missense_Mutation_p.N479K|PCDH11X_uc004efm.2_Missense_Mutation_p.N479K|PCDH11X_uc004efn.2_Missense_Mutation_p.N479K|PCDH11X_uc004efo.2_Missense_Mutation_p.N479K|PCDH11X_uc004efh.2_Missense_Mutation_p.N479K|PCDH11X_uc004efj.1_Missense_Mutation_p.N479K	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN	Homo sapiens protocadherin 11 X-linked (PCDH11X), transcript variant c, mRNA.	479	Cadherin 5.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						CTGAGAATAACTCTCCTGGCA	0.433												
PCDH11X	27328	broad.mit.edu	37	X	91132704	91132704	+	Missense_Mutation	SNP	A	A	T			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chrX:91132704A>T	uc004efk.2	+	1	2310	c.1465A>T	c.(1465-1467)Agt>Tgt	p.S489C	PCDH11X_uc004efl.2_Missense_Mutation_p.S489C|PCDH11X_uc010nmv.2_Missense_Mutation_p.S489C|PCDH11X_uc004efm.2_Missense_Mutation_p.S489C|PCDH11X_uc004efn.2_Missense_Mutation_p.S489C|PCDH11X_uc004efo.2_Missense_Mutation_p.S489C|PCDH11X_uc004efh.2_Missense_Mutation_p.S489C|PCDH11X_uc004efj.1_Missense_Mutation_p.S489C	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN	Homo sapiens protocadherin 11 X-linked (PCDH11X), transcript variant c, mRNA.	489	Cadherin 5.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						GACGAAAGTAAGTGCAATGGA	0.453												
LONRF3	79836	broad.mit.edu	37	X	118108897	118108897	+	Missense_Mutation	SNP	C	C	T			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chrX:118108897C>T	uc004eqw.3	+	0	185	c.154C>T	c.(154-156)Cgg>Tgg	p.R52W	LONRF3_uc004eqx.3_Missense_Mutation_p.R52W|LONRF3_uc004eqy.3_Non-coding_Transcript|LONRF3_uc004eqz.3_5'Flank	NM_001031855	NP_001027026	Q496Y0	LONF3_HUMAN	Homo sapiens LON peptidase N-terminal domain and ring finger 3 (LONRF3), transcript variant 1, mRNA.	52					proteolysis		ATP-dependent peptidase activity|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	36						TCTACCGACGCGGGAGCCAGA	0.677												
ZBTB33	10009	broad.mit.edu	37	X	119388318	119388318	+	Missense_Mutation	SNP	G	G	A			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chrX:119388318G>A	uc022cdm.1	+	0	1048	c.1048G>A	c.(1048-1050)Gtc>Atc	p.V350I	ZBTB33_uc010nqm.1_Missense_Mutation_p.V350I|ZBTB33_uc004esn.1_Missense_Mutation_p.V350I	NM_006777	NP_006768	Q86T24	KAISO_HUMAN	Homo sapiens zinc finger and BTB domain containing 33 (ZBTB33), transcript variant 2, mRNA.	350					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|nucleolus|plasma membrane	DNA binding|protein binding|zinc ion binding	p.V350I(2)		breast(2)|central_nervous_system(2)|endometrium(6)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	26						TGACTCGGCCGTCAGTAATAC	0.413												
STAG2	10735	broad.mit.edu	37	X	123176479	123176479	+	Frame_Shift_Del	DEL	C	C	-			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chrX:123176479delC	uc004eua.3	+	6	850	c.446delC	c.(445-447)actfs	p.T149fs	STAG2_uc004etz.4_Frame_Shift_Del_p.T149fs|STAG2_uc004eub.3_Frame_Shift_Del_p.T149fs|STAG2_uc004euc.3_Frame_Shift_Del_p.T149fs|STAG2_uc004eud.3_Frame_Shift_Del_p.T149fs|STAG2_uc004eue.3_Frame_Shift_Del_p.T149fs	NM_001042749	NP_001036215	Q8N3U4	STAG2_HUMAN	Homo sapiens stromal antigen 2 (STAG2), transcript variant 1, mRNA.	149					cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						CGAAAAATGACTGAAGAATTC	0.299												
RBMX	27316	broad.mit.edu	37	X	135961585	135961586	+	Frame_Shift_Ins	INS	-	-	T			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chrX:135961585_135961586insT	uc004fae.2	-	1	211_212	c.1_2insA	c.(1-3)atgfs	p.M1fs	RBMX_uc011mwf.1_Frame_Shift_Ins_p.M1fs|RBMX_uc004fad.1_Frame_Shift_Ins_p.M1fs|RBMX_uc011mwg.2_5'UTR|RBMX_uc004faf.2_5'UTR|SNORD61_uc004fah.1_5'Flank	NM_002139	NP_002130	P38159	HNRPG_HUMAN	Homo sapiens RNA binding motif protein, X-linked (RBMX), transcript variant 1, mRNA.	1						catalytic step 2 spliceosome|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding	p.?(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|urinary_tract(1)	33	Acute lymphoblastic leukemia(192;0.000127)					TGCTTCAACCATGTTTTTTTTT	0.391												
PLXNB3	5365	broad.mit.edu	37	X	153033075	153033075	+	Missense_Mutation	SNP	C	C	T			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chrX:153033075C>T	uc010nuk.2	+	3	1133	c.862C>T	c.(862-864)Cgc>Tgc	p.R288C	PLXNB3_uc011mzb.1_Intron|PLXNB3_uc011mzc.2_Intron|PLXNB3_uc004fii.2_Missense_Mutation_p.R265C|PLXNB3_uc011mzd.1_Intron	NM_001163257	NP_001156729	Q9ULL4	PLXB3_HUMAN	Homo sapiens plexin B3 (PLXNB3), transcript variant 2, mRNA.	265	Sema.				axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity			central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					CTACGTGGCCCGCGTCTGCCT	0.721												
FLNA	2316	broad.mit.edu	37	X	153588484	153588484	+	Missense_Mutation	SNP	C	C	T			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chrX:153588484C>T	uc004fkk.2	-	21	3928	c.3679G>A	c.(3679-3681)Ggg>Agg	p.G1227R	FLNA_uc011mzn.1_5'Flank|FLNA_uc010nuu.1_Missense_Mutation_p.G1227R	NM_001110556	NP_001104026	P21333	FLNA_HUMAN	Homo sapiens filamin A, alpha (FLNA), transcript variant 2, mRNA.	1227					actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GTGTAGGCCCCGGGGCAGAGG	0.637												
PLXNA3	55558	broad.mit.edu	37	X	153694763	153694763	+	Silent	SNP	C	C	T			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chrX:153694763C>T	uc004flm.3	+	15	3017	c.2844C>T	c.(2842-2844)tcC>tcT	p.S948S		NM_017514	NP_059984	P51805	PLXA3_HUMAN	Homo sapiens plexin A3 (PLXNA3), mRNA.	948	IPT/TIG 2.				axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GCCCGGCGTCCGGGGGCACAC	0.672