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	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
MYLK4	340156	broad.mit.edu	37	6	2679563	2679563	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr6:2679563C>G	ENST00000274643.7	-	9	1180	c.838G>C	c.(838-840)Gtt>Ctt	p.V280L	MYLK4_ENST00000268446.5_Missense_Mutation_p.V280L	NM_001012418.3	NP_001012418.2	Q86YV6	MYLK4_HUMAN	myosin light chain kinase family, member 4	280	Protein kinase.						ATP binding|protein serine/threonine kinase activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(2)|skin(1)	23	Ovarian(93;0.0412)	all_hematologic(90;0.0897)				GGAAATGAAACAAAATCATAG	0.448000													29	281					0	0	0.002522	0	0
BRINP3	339479	broad.mit.edu	37	1	190067745	190067745	+	Silent	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:190067745C>A	ENST00000367462.3	-	8	1935	c.1704G>T	c.(1702-1704)gtG>gtT	p.V568V	FAM5C_ENST00000484105.1_5'UTR|FAM5C_ENST00000534846.1_Silent_p.V466V	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN		568						extracellular region				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					AAACAGCCAACACTGGCTCCA	0.453000													42	52					3.61848e-18	6.07358e-18	0.007835	1	0
VWA3B	200403	broad.mit.edu	37	2	98928447	98928447	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr2:98928447C>A	ENST00000477737.1	+	27	3891	c.3687C>A	c.(3685-3687)caC>caA	p.H1229Q	VWA3B_ENST00000490947.2_3'UTR	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	1229										NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						GCTCCTCCCACGGCATCAGCT	0.637000													5	8					0.00198382	0.00212583	0.001984	1	0
OR2L8	391190	broad.mit.edu	37	1	248112897	248112897	+	Silent	SNP	A	A	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:248112897A>T	ENST00000357191.3	+	1	738	c.738A>T	c.(736-738)gtA>gtT	p.V246V	OR2L13_ENST00000366478.2_Intron	NM_001001963.1	NP_001001963.1	Q8NGY9	OR2L8_HUMAN	olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene)	246					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3)	42	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			ACCTCACTGTAGTAACTTTCT	0.468000													27	102					0	0	0.009535	0	0
STAT2	6773	broad.mit.edu	37	12	56750051	56750051	+	Silent	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr12:56750051C>A	ENST00000314128.4	-	3	173	c.150G>T	c.(148-150)ggG>ggT	p.G50G	STAT2_ENST00000557235.1_Silent_p.G50G|STAT2_ENST00000418572.2_Silent_p.G50G			P52630	STAT2_HUMAN	signal transducer and activator of transcription 2, 113kDa	50					interspecies interaction between organisms|JAK-STAT cascade|regulation of transcription from RNA polymerase II promoter|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	cytosol|nucleoplasm|plasma membrane	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			NS(1)|endometrium(2)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|skin(3)	31						AATCATCACTCCCAAGTGCAG	0.507000													18	41					0.00074312	0.000806926	0.006122	1	0
SLC24A2	25769	broad.mit.edu	37	9	19619672	19619672	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr9:19619672G>C	ENST00000341998.2	-	3	1049	c.988C>G	c.(988-990)Cga>Gga	p.R330G	SLC24A2_ENST00000286344.3_Missense_Mutation_p.R330G	NM_001193288.2|NM_020344.3	NP_001180217.1|NP_065077.1	Q9UI40	NCKX2_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 2	330					visual perception	integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			endometrium(3)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33				GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443)		CTTCCACCTCGCTGGAGACGC	0.493000													20	81					0	0	0.008871	0	0
ASTN2	23245	broad.mit.edu	37	9	119903754	119903754	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr9:119903754G>A	ENST00000313400.4	-	4	1119	c.1019C>T	c.(1018-1020)gCa>gTa	p.A340V	ASTN2_ENST00000361209.2_Intron|ASTN2_ENST00000361477.3_Intron|ASTN2_ENST00000373996.3_Missense_Mutation_p.A340V			O75129	ASTN2_HUMAN	astrotactin 2	340						integral to membrane				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						CGCCTCAGCTGCTGCTATAAG	0.587000													16	9					0	0	0.004007	0	0
DCST1	149095	broad.mit.edu	37	1	155006533	155006533	+	Silent	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:155006533G>A	ENST00000295542.1	+	2	117	c.21G>A	c.(19-21)caG>caA	p.Q7Q	DCST1_ENST00000392480.1_Silent_p.Q7Q|DCST1_ENST00000423025.2_Silent_p.Q7Q|DCST1_ENST00000368419.2_Silent_p.Q7Q	NM_152494.3	NP_689707.2	Q5T197	DCST1_HUMAN	DC-STAMP domain containing 1	7						integral to membrane	zinc ion binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	27	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			AACATCATCAGAATGGCACAA	0.502000													9	51					0	0	0.008291	0	0
ZNF250	58500	broad.mit.edu	37	8	146107404	146107404	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr8:146107404C>A	ENST00000292579.7	-	6	1295	c.1179G>T	c.(1177-1179)aaG>aaT	p.K393N	ZNF250_ENST00000342660.6_Intron|ZNF250_ENST00000417550.2_Missense_Mutation_p.K388N|ZNF250_ENST00000543949.1_Intron	NM_001109689.3|NM_021061.4	NP_001103159.1|NP_066405.1	P15622	ZN250_HUMAN	zinc finger protein 250	393					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(2)|lung(8)|skin(1)	15	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;2.53e-38)|OV - Ovarian serous cystadenocarcinoma(54;4.07e-38)|all cancers(56;2.27e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.0654)		ACTCATAGGGCTTCTCCCCGG	0.592000													9	47					1.76689e-08	2.26775e-08	0.006214	1	0
TOP3A	7156	broad.mit.edu	37	17	18205586	18205586	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr17:18205586C>T	ENST00000321105.5	-	7	1020	c.806G>A	c.(805-807)aGa>aAa	p.R269K	TOP3A_ENST00000542570.1_Missense_Mutation_p.R174K	NM_004618.3	NP_004609.1	Q13472	TOP3A_HUMAN	topoisomerase (DNA) III alpha	269					DNA topological change|meiosis	chromosome|PML body	ATP binding|DNA topoisomerase type I activity|protein binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(2)|urinary_tract(1)	36						ACCTTTAATTCTGTGGAAGAT	0.507000													5	23					0	0	0.001168	0	0
ZMYM3	9203	broad.mit.edu	37	X	70466306	70466306	+	Silent	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chrX:70466306G>A	ENST00000373998.1	-	15	3130	c.2433C>T	c.(2431-2433)ccC>ccT	p.P811P	ZMYM3_ENST00000353904.2_Silent_p.P823P|ZMYM3_ENST00000373984.3_Silent_p.P825P|ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000373988.1_Silent_p.P825P|ZMYM3_ENST00000314425.5_Silent_p.P823P	NM_001171162.1	NP_001164633.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	823					multicellular organismal development	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					GTGTTGCTGGGGGTGGTGGGG	0.572000													4	5					0	0	0.009096	0	0
CTNNA2	1496	broad.mit.edu	37	2	80101463	80101463	+	Missense_Mutation	SNP	T	T	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr2:80101463T>G	ENST00000466387.1	+	10	1571	c.847T>G	c.(847-849)Ttt>Gtt	p.F283V	CTNNA2_ENST00000541047.1_Missense_Mutation_p.F283V|CTNNA2_ENST00000361291.4_Missense_Mutation_p.F317V|CTNNA2_ENST00000496558.1_Missense_Mutation_p.F283V|CTNNA2_ENST00000402739.4_Missense_Mutation_p.F283V|CTNNA2_ENST00000540488.1_Missense_Mutation_p.F283V			P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	283					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						TCTTAATGAGTTTGACGTAAG	0.527000													12	39					0	0	0.003163	0	0
FAR1	84188	broad.mit.edu	37	11	13734550	13734550	+	Missense_Mutation	SNP	A	A	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr11:13734550A>T	ENST00000354817.3	+	8	1069	c.925A>T	c.(925-927)Agc>Tgc	p.S309C	FAR1_ENST00000527202.1_3'UTR	NM_032228.5	NP_115604.1	Q8WVX9	FACR1_HUMAN	fatty acyl CoA reductase 1	309					ether lipid biosynthetic process	integral to membrane|peroxisomal matrix|peroxisomal membrane	protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	13						TACAACAGGCAGCACTAATCC	0.348000													25	95					0	0	0.006320	0	0
TNXB	7148	broad.mit.edu	37	6	32025888	32025888	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr6:32025888T>A	ENST00000375244.3	-	22	7973	c.7772A>T	c.(7771-7773)tAc>tTc	p.Y2591F	TNXB_ENST00000375247.2_Missense_Mutation_p.Y2591F			P22105	TENX_HUMAN	tenascin XB	2651	Fibronectin type-III 18.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GTGGAGGCCGTACAGGTGCAT	0.677000													13	63					0	0	0.001855	0	0
FMN2	56776	broad.mit.edu	37	1	240370183	240370183	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:240370183G>A	ENST00000319653.9	+	5	2301	c.2071G>A	c.(2071-2073)Gct>Act	p.A691T		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	691					actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			AACCAAAATAGCTGAACTAGA	0.517000													23	45					0	0	0.003330	0	0
GRAMD1C	54762	broad.mit.edu	37	3	113594425	113594425	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr3:113594425G>T	ENST00000358160.4	+	4	846	c.354G>T	c.(352-354)tgG>tgT	p.W118C	GRAMD1C_ENST00000452134.2_5'UTR|GRAMD1C_ENST00000479212.1_3'UTR	NM_017577.4	NP_060047.3	Q8IYS0	GRM1C_HUMAN	GRAM domain containing 1C	118	GRAM.					integral to membrane				NS(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	26						TCTTCAGATGGGAAACTACAG	0.338000													34	56					1.21669e-08	1.58516e-08	0.003271	1	0
OCRL	4952	broad.mit.edu	37	X	128692702	128692702	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chrX:128692702C>T	ENST00000371113.4	+	7	697	c.532C>T	c.(532-534)Cca>Tca	p.P178S	OCRL_ENST00000486673.1_3'UTR|OCRL_ENST00000357121.5_Missense_Mutation_p.P178S	NM_000276.3	NP_000267.2	Q01968	OCRL_HUMAN	oculocerebrorenal syndrome of Lowe	178					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	clathrin-coated vesicle|cytosol|early endosome|Golgi stack|Golgi-associated vesicle	GTPase activator activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding			breast(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|upper_aerodigestive_tract(3)	48						TCGGGAACCCCCACCTCCACC	0.348000													17	41					0	0	0.004990	0	0
SETD2	29072	broad.mit.edu	37	3	47098323	47098323	+	Silent	SNP	T	T	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr3:47098323T>G	ENST00000409792.3	-	15	6993	c.6951A>C	c.(6949-6951)ccA>ccC	p.P2317P		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	2317	Gln-rich.|Low charge region.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		GTACAATTGGTGGAGTTGTCT	0.403000			"""N, F, S, Mis"""		clear cell renal carcinoma								23	14					0	0	0.003954	0	0
DNAH3	55567	broad.mit.edu	37	16	21033322	21033322	+	Nonsense_Mutation	SNP	G	G	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr16:21033322G>C	ENST00000261383.3	-	40	5746	c.5747C>G	c.(5746-5748)tCa>tGa	p.S1916*	DNAH3_ENST00000415178.1_Intron	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1916					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)		TCTCATCATTGAGAAGGCAAG	0.458000													12	44					0	0	0.001368	0	0
ZNF91	7644	broad.mit.edu	37	19	23545248	23545248	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr19:23545248C>T	ENST00000300619.7	-	4	738	c.533G>A	c.(532-534)gGa>gAa	p.G178E	ZNF91_ENST00000397082.2_Missense_Mutation_p.G146E|ZNF91_ENST00000599743.1_Intron	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	178						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding						all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				GCATTTCTTTCCAGTATGTCT	0.318000													15	7					0	0	0.004007	0	0
ZNF514	84874	broad.mit.edu	37	2	95818903	95818903	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr2:95818903C>A	ENST00000295208.2	-	3	558	c.96G>T	c.(94-96)gaG>gaT	p.E32D	ZNF514_ENST00000411425.1_Missense_Mutation_p.E32D	NM_032788.1	NP_116177.1	Q96K75	ZN514_HUMAN	zinc finger protein 514	32	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(4)|lung(6)|urinary_tract(1)	11						TCCTGAAGTTCTCCAGCATCA	0.527000													39	39					1.04594e-18	1.78004e-18	0.006230	1	0
ZNF226	7769	broad.mit.edu	37	19	44679853	44679853	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr19:44679853G>T	ENST00000590089.1	+	7	805	c.438G>T	c.(436-438)gaG>gaT	p.E146D	ZNF226_ENST00000454662.2_Missense_Mutation_p.E146D|ZNF226_ENST00000337433.5_Missense_Mutation_p.E146D|ZNF226_ENST00000588883.1_3'UTR			Q9NYT6	ZN226_HUMAN	zinc finger protein 226	146					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding						Prostate(69;0.0352)|all_neural(266;0.202)				CTGAAGATGAGAACTATATAG	0.398000													7	37					8.12818e-05	9.08845e-05	0.001984	1	0
KARS	3735	broad.mit.edu	37	16	75668121	75668121	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr16:75668121C>A	ENST00000319410.5	-	8	1070	c.949G>T	c.(949-951)Gag>Tag	p.E317*	KARS_ENST00000302445.3_Nonsense_Mutation_p.E289*|KARS_ENST00000568378.1_Intron	NM_001130089.1	NP_001123561.1	Q15046	SYK_HUMAN	lysyl-tRNA synthetase	289					interspecies interaction between organisms|lysyl-tRNA aminoacylation|tRNA processing	cytosol|extracellular region|mitochondrial matrix|nucleus|plasma membrane|soluble fraction	ATP binding|lysine-tRNA ligase activity|metal ion binding|tRNA binding			kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	18					L-Lysine(DB00123)	ATGTCCAGCTCGTTGTGATAA	0.428000													41	71					2.59497e-14	3.99457e-14	0.007835	1	0
DOCK5	80005	broad.mit.edu	37	8	25226140	25226140	+	Missense_Mutation	SNP	A	A	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr8:25226140A>T	ENST00000276440.7	+	33	3381	c.3337A>T	c.(3337-3339)Act>Tct	p.T1113S		NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	1113						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		TCTGGAGGTCACTCTGACCCC	0.403000													9	32					0	0	0.004482	0	0
IGHM	3507	broad.mit.edu	37	14	106321610	106321610	+	RNA	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr14:106321610C>T	ENST00000390559.2	-	0	623																											AGGACGCATTCTGCTGGAAGG	0.637000													21	10					0	0	0.003330	0	0
NPIPB15	440348	broad.mit.edu	37	16	74425527	74425527	+	Missense_Mutation	SNP	T	T	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr16:74425527T>G	ENST00000429990.1	+	7	977	c.881T>G	c.(880-882)gTg>gGg	p.V294G						nuclear pore complex interacting protein family, member B15																		CCACCCTCAGTGGATGATAAT	0.507000													19	129					0	0	0.003330	0	0
COL20A1	57642	broad.mit.edu	37	20	61937328	61937328	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr20:61937328G>T	ENST00000422202.1	+	4	501	c.433G>T	c.(433-435)Gac>Tac	p.D145Y	COL20A1_ENST00000358894.6_Missense_Mutation_p.D145Y|COL20A1_ENST00000326996.6_Missense_Mutation_p.D145Y|COL20A1_ENST00000435874.1_Missense_Mutation_p.D145Y			Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	145					cell adhesion	collagen|extracellular space	structural molecule activity			NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					GGGGAGCCCAGACCCTGAGCA	0.647000													25	30					3.6726e-16	5.9011e-16	0.003954	1	0
VPS18	57617	broad.mit.edu	37	15	41192839	41192839	+	Missense_Mutation	SNP	G	G	T	rs34865655	byFrequency	TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr15:41192839G>T	ENST00000220509.5	+	4	2162	c.1823G>T	c.(1822-1824)cGc>cTc	p.R608L	VPS18_ENST00000558474.1_Intron	NM_020857.2	NP_065908.1	Q9P253	VPS18_HUMAN	vacuolar protein sorting 18 homolog (S. cerevisiae)	608					endosome organization|lysosome organization|protein transport	HOPS complex|late endosome membrane|lysosomal membrane	metal ion binding|protein binding			autonomic_ganglia(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	28		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)		CACATCCCCCGCCAGCTTGTA	0.632000													32	47					1.55811e-20	2.72113e-20	0.008361	1	0
NAA11	84779	broad.mit.edu	37	4	80246951	80246951	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr4:80246951C>A	ENST00000286794.4	-	1	253	c.81G>T	c.(79-81)caG>caT	p.Q27H		NM_032693.2	NP_116082.1	Q9BSU3	NAA11_HUMAN	N(alpha)-acetyltransferase 11, NatA catalytic subunit	27	Interaction with NAA15 (By similarity).|N-acetyltransferase.					cytoplasm|nucleus	peptide alpha-N-acetyltransferase activity|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|skin(2)	23						AGTATTTCATCTGGTAGTTCT	0.488000													29	27					6.07407e-21	1.0646e-20	0.007291	1	0
GALNT8	26290	broad.mit.edu	37	12	4873214	4873214	+	Splice_Site	SNP	G	G	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr12:4873214G>C	ENST00000252318.2	+	9	1930		c.e9+1			NM_017417.1	NP_059113.1	Q9NY28	GALT8_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8)							Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	35						CAGCTCACAGGTATCTTCCAC	0.522000													10	46					0	0	0.008291	0	0
RPGR	6103	broad.mit.edu	37	X	38150672	38150672	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chrX:38150672C>T	ENST00000378505.2	-	12	1656	c.1480G>A	c.(1480-1482)Gga>Aga	p.G494R	RPGR_ENST00000339363.3_Missense_Mutation_p.G494R|TM4SF2_ENST00000465127.1_Intron|RPGR_ENST00000309513.3_Missense_Mutation_p.G432R|RPGR_ENST00000338898.3_Intron|RPGR_ENST00000318842.7_Missense_Mutation_p.G494R|RPGR_ENST00000342811.3_Missense_Mutation_p.G494R	NM_001034853.1	NP_001030025.1	Q92834	RPGR_HUMAN	retinitis pigmentosa GTPase regulator	494					intracellular protein transport|response to stimulus|visual perception	Golgi apparatus|photoreceptor outer segment	guanyl-nucleotide exchange factor activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	25						GTAGTTTCTCCAAGGCTTTCT	0.299000													14	40					0	0	0.003163	0	0
USP29	57663	broad.mit.edu	37	19	57640799	57640799	+	Silent	SNP	T	T	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr19:57640799T>C	ENST00000254181.4	+	4	1210	c.756T>C	c.(754-756)aaT>aaC	p.N252N	USP29_ENST00000598197.1_Silent_p.N252N	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	252					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		ATGCCAAAAATGGTTTGACAT	0.468000													11	52					0	0	0.008291	0	0
PTPRC	5788	broad.mit.edu	37	1	198675957	198675957	+	Silent	SNP	T	T	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:198675957T>C	ENST00000367376.2	+	9	945	c.774T>C	c.(772-774)tgT>tgC	p.C258C	PTPRC_ENST00000348564.6_Silent_p.C99C|PTPRC_ENST00000352140.3_Silent_p.C210C|PTPRC_ENST00000594404.1_Silent_p.C97C|PTPRC_ENST00000442510.2_Silent_p.C260C	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	258					axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						ATGTGGAATGTGGAAACAATA	0.313000													45	67					0	0	0.003214	0	0
KRT79	338785	broad.mit.edu	37	12	53217717	53217717	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr12:53217717C>A	ENST00000330553.5	-	6	1134	c.1100G>T	c.(1099-1101)cGc>cTc	p.R367L		NM_175834.2	NP_787028.1	Q5XKE5	K2C79_HUMAN	keratin 79	367	Coil 2.|Rod.					keratin filament	structural molecule activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CTGGATAGTGCGGGTGAGCTC	0.607000													16	32					6.94344e-10	9.29382e-10	0.006122	1	0
NXPE1	120400	broad.mit.edu	37	11	114401418	114401418	+	Silent	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr11:114401418G>A	ENST00000536312.1	-	6	1204	c.312C>T	c.(310-312)acC>acT	p.T104T	NXPE1_ENST00000424269.1_Silent_p.T104T|NXPE1_ENST00000251921.2_5'UTR					neurexophilin and PC-esterase domain family, member 1																		GGTTGAGGATGGTGGCTGTGC	0.517000													14	101					0	0	0.002450	0	0
FAT1	2195	broad.mit.edu	37	4	187628590	187628590	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr4:187628590C>A	ENST00000441802.2	-	2	2601	c.2392G>T	c.(2392-2394)Ggg>Tgg	p.G798W		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	798	Cadherin 6.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TGGGGTATCCCAAGGTCATAG	0.433000										HNSCC(5;0.00058)			51	28					2.3441e-25	4.3529e-25	0.003610	1	0
NAP1L2	4674	broad.mit.edu	37	X	72433876	72433876	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chrX:72433876T>A	ENST00000373517.3	-	1	808	c.453A>T	c.(451-453)agA>agT	p.R151S	NAP1L2_ENST00000536638.1_Missense_Mutation_p.R9S	NM_021963.3	NP_068798.1	Q9ULW6	NP1L2_HUMAN	nucleosome assembly protein 1-like 2	151					nucleosome assembly	chromatin assembly complex				NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3)	29	Renal(35;0.156)					TGATCTGACGTCTTTTTTCCA	0.378000													37	77					0	0	0.003755	0	0
TRIM61	391712	broad.mit.edu	37	4	165891118	165891118	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr4:165891118C>T	ENST00000329314.5	-	3	649	c.37G>A	c.(37-39)Gag>Aag	p.E13K		NM_001012414.2	NP_001012414.1	Q5EBN2	TRI61_HUMAN	tripartite motif containing 61	13						intracellular	zinc ion binding			NS(1)|kidney(1)|liver(1)|skin(1)|upper_aerodigestive_tract(1)	5	all_hematologic(180;0.221)	Prostate(90;0.109)		GBM - Glioblastoma multiforme(119;0.155)		CAGCTAGCCTCTGCTCGGAGG	0.473000													7	73					0	0	0.006214	0	0
SALL4	57167	broad.mit.edu	37	20	50407075	50407075	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr20:50407075C>A	ENST00000217086.4	-	2	2058	c.1947G>T	c.(1945-1947)atG>atT	p.M649I	SALL4_ENST00000395997.3_Intron|SALL4_ENST00000371539.3_Intron	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4	649					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TCTGACCGCCCATGTGCATCC	0.547000													37	39					7.04047e-22	1.25192e-21	0.005524	1	0
F9	2158	broad.mit.edu	37	X	138644187	138644187	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chrX:138644187C>A	ENST00000218099.2	+	8	1350	c.1343C>A	c.(1342-1344)tCc>tAc	p.S448Y	F9_ENST00000394090.2_Missense_Mutation_p.S410Y	NM_000133.3	NP_000124.1	P00740	FA9_HUMAN	coagulation factor IX	448	Peptidase S1.				blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen|plasma membrane	calcium ion binding|serine-type endopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|skin(1)	35	Acute lymphoblastic leukemia(192;0.000127)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Heparin(DB01109)|Menadione(DB00170)	ACCAAGGTATCCCGGTATGTC	0.378000													20	43					3.62473e-10	4.91904e-10	0.001882	1	0
SORCS1	114815	broad.mit.edu	37	10	108466379	108466379	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr10:108466379C>A	ENST00000263054.6	-	8	1164	c.1157G>T	c.(1156-1158)gGg>gTg	p.G386V	SORCS1_ENST00000344440.6_Missense_Mutation_p.G386V	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	386						integral to membrane	neuropeptide receptor activity|protein binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		ATGTGGCCGCCCTCCTGATGT	0.468000													7	46					1.6384e-10	2.24001e-10	0.001984	1	0
DCP1A	55802	broad.mit.edu	37	3	53326447	53326447	+	Silent	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr3:53326447C>T	ENST00000607628.1	-	7	1144	c.1035G>A	c.(1033-1035)gtG>gtA	p.V345V	DCP1A_ENST00000480258.1_5'UTR|DCP1A_ENST00000294241.6_Silent_p.V345V|DCP1A_ENST00000606822.1_Silent_p.V307V	NM_018403.5	NP_060873.4	Q9NPI6	DCP1A_HUMAN	decapping mRNA 1A	345					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytoplasmic mRNA processing body|cytosol|nucleus	hydrolase activity|protein binding			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10				BRCA - Breast invasive adenocarcinoma(193;0.000164)|KIRC - Kidney renal clear cell carcinoma(197;0.00525)|Kidney(197;0.00579)|OV - Ovarian serous cystadenocarcinoma(275;0.0647)		GCGTGGTCTTCACTGCCTGCA	0.587000													12	20					0	0	0.000978	0	0
PPAPDC1A	196051	broad.mit.edu	37	10	122334784	122334784	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr10:122334784G>C	ENST00000398250.1	+	6	939	c.587G>C	c.(586-588)cGc>cCc	p.R196P	PPAPDC1A_ENST00000496437.1_3'UTR|PPAPDC1A_ENST00000541332.1_Missense_Mutation_p.R196P|PPAPDC1A_ENST00000398248.1_Intron|PPAPDC1A_ENST00000369073.3_Missense_Mutation_p.R186P|PPAPDC1A_ENST00000439221.1_Missense_Mutation_p.R133P	NM_001030059.1	NP_001025230.1	Q5VZY2	PPC1A_HUMAN	phosphatidic acid phosphatase type 2 domain containing 1A	196	Phosphatase sequence motif III.				phospholipid dephosphorylation	integral to membrane	phosphatidate phosphatase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1)	20		Lung NSC(174;0.1)|all_lung(145;0.132)		all cancers(201;0.0117)		GCCCTGTCCCGCATGTGCGAC	0.607000													18	36					0	0	0.007413	0	0
LPIN1	23175	broad.mit.edu	37	2	11964914	11964914	+	Silent	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr2:11964914G>T	ENST00000256720.2	+	20	2763	c.2670G>T	c.(2668-2670)gcG>gcT	p.A890A	LPIN1_ENST00000425416.2_Silent_p.A896A|LPIN1_ENST00000396099.1_Silent_p.A932A|LPIN1_ENST00000396097.1_Silent_p.A620A|LPIN1_ENST00000449576.2_Silent_p.A975A|LPIN1_ENST00000404113.2_Silent_p.A391A	NM_145693.2	NP_663731.1	Q14693	LPIN1_HUMAN	lipin 1	890					fatty acid catabolic process|transcription, DNA-dependent|triglyceride biosynthetic process|triglyceride mobilization	cytosol|endoplasmic reticulum membrane	phosphatidate phosphatase activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(15)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	45	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173)		CTGCCTCAGCGTAAAATGTCC	0.517000													4	34					2.56e-06	3.02134e-06	0.009096	1	0
BBS2	583	broad.mit.edu	37	16	56536584	56536584	+	Splice_Site	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr16:56536584C>A	ENST00000245157.5	-	8	1361		c.e8+1		BBS2_ENST00000561951.1_Splice_Site|BBS2_ENST00000568104.1_Splice_Site	NM_031885.3	NP_114091.3	Q9BXC9	BBS2_HUMAN	Bardet-Biedl syndrome 2						adult behavior|brain morphogenesis|cerebral cortex development|cilium morphogenesis|fat cell differentiation|hippocampus development|melanosome transport|negative regulation of multicellular organism growth|photoreceptor cell maintenance|protein localization to organelle|regulation of cilium beat frequency involved in ciliary motility|sperm axoneme assembly|striatum development	BBSome|cilium membrane|microtubule basal body|motile cilium	protein binding			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)	26						TCCCAATTTACTTTCCCCATC	0.403000									Bardet-Biedl syndrome				33	85					1.60099e-16	2.58377e-16	0.004878	1	0
FREM1	158326	broad.mit.edu	37	9	14857621	14857621	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr9:14857621G>A	ENST00000380881.4	-	6	1573	c.758C>T	c.(757-759)cCt>cTt	p.P253L	FREM1_ENST00000422223.2_Missense_Mutation_p.P253L|FREM1_ENST00000380880.3_Missense_Mutation_p.P253L			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	253					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		GTTGGGTGAAGGGGGATCCAG	0.493000													26	110					0	0	0.005443	0	0
CENPF	1063	broad.mit.edu	37	1	214836933	214836933	+	Splice_Site	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:214836933G>T	ENST00000366955.3	+	20	9309		c.e20-1			NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa						cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		TTGTGTTGCAGGTCAAAGTTG	0.423000													15	15					2.35188e-11	3.31751e-11	0.006122	1	0
CDC42BPA	8476	broad.mit.edu	37	1	227504797	227504797	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:227504797C>A	ENST00000366769.3	-	1	1378	c.87G>T	c.(85-87)gaG>gaT	p.E29D	CDC42BPA_ENST00000366764.2_Missense_Mutation_p.E29D|CDC42BPA_ENST00000366767.3_Missense_Mutation_p.E29D|CDC42BPA_ENST00000366765.3_Missense_Mutation_p.E29D|CDC42BPA_ENST00000366766.2_Missense_Mutation_p.E29D|CDC42BPA_ENST00000535525.1_Missense_Mutation_p.E29D|CDC42BPA_ENST00000334218.5_Missense_Mutation_p.E29D	NM_003607.3	NP_003598.2	Q5VT25	MRCKA_HUMAN	CDC42 binding protein kinase alpha (DMPK-like)	29					actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77		all_cancers(173;0.156)|Prostate(94;0.0792)				CCAGTAATGTCTCCACACTGA	0.438000													20	49					1.28384e-07	1.59745e-07	0.001882	1	0
SLC6A15	55117	broad.mit.edu	37	12	85285772	85285772	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr12:85285772C>T	ENST00000450363.3	-	2	586	c.128G>A	c.(127-129)gGc>gAc	p.G43D	SLC6A15_ENST00000552192.1_Intron|SLC6A15_ENST00000266682.5_Missense_Mutation_p.G43D|SLC6A15_ENST00000551388.1_Intron	NM_018057.6	NP_060527.2	Q9H2J7	S6A15_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 15	43					cellular nitrogen compound metabolic process|leucine transport|proline transport	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			kidney(1)|large_intestine(18)|lung(15)|ovary(1)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	44						CTCTTCCTGGCCATCAACAAT	0.403000													54	102					0	0	0.003610	0	0
TP53	7157	broad.mit.edu	37	17	7574017	7574017	+	Missense_Mutation	SNP	C	C	A	rs121912664		TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr17:7574017C>A	ENST00000269305.4	-	10	1199	c.1010G>T	c.(1009-1011)cGc>cTc	p.R337L	TP53_ENST00000445888.2_Missense_Mutation_p.R337L|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Intron|TP53_ENST00000420246.2_3'UTR|TP53_ENST00000455263.2_3'UTR	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	337	Interaction with CARM1.|Interaction with HIPK1 (By similarity).|Interaction with HIPK2.|Oligomerization.		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R337L(15)|p.0?(8)|p.R337H(4)|p.I332fs*5(1)|p.?(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CATCTCGAAGCGCTCACGCCC	0.527000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			11	11					7.03913e-09	9.21177e-09	0.001368	1	0
TMEM260	54916	broad.mit.edu	37	14	57083899	57083899	+	Splice_Site	SNP	A	A	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr14:57083899A>T	ENST00000261556.6	+	9	1063		c.e9-1		TMEM260_ENST00000538838.1_Splice_Site|TMEM260_ENST00000536419.1_Splice_Site|TMEM260_ENST00000553335.1_Splice_Site	NM_017799.3	NP_060269.3			transmembrane protein 260																		TATTTTTTGTAGGGACAGACA	0.264000													8	39					0	0	0.003080	0	0
DRD5	1816	broad.mit.edu	37	4	9784087	9784087	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr4:9784087C>A	ENST00000304374.2	+	1	830	c.434C>A	c.(433-435)cCc>cAc	p.P145H		NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN	dopamine receptor D5	145					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane				NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)	ATCTCCAGGCCCTTCCGCTAC	0.597000													9	17					1.12685e-05	1.30267e-05	0.004482	1	0
SLC45A1	50651	broad.mit.edu	37	1	8390674	8390674	+	Missense_Mutation	SNP	A	A	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:8390674A>G	ENST00000471889.1	+	5	1506	c.1121A>G	c.(1120-1122)gAc>gGc	p.D374G	SLC45A1_ENST00000289877.8_Missense_Mutation_p.D374G|SLC45A1_ENST00000377479.2_Missense_Mutation_p.D408G|SLC45A1_ENST00000481265.1_3'UTR			Q9Y2W3	S45A1_HUMAN	solute carrier family 45, member 1	374					carbohydrate transport	integral to membrane	symporter activity			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(2)	33	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		GCCAACATAGACAGCGTCCTC	0.662000													10	24					0	0	0.008291	0	0
GCSHP3	100329109	broad.mit.edu	37	2	206980921	206980921	+	RNA	SNP	G	G	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr2:206980921G>C	ENST00000453039.1	+	0	651					NR_033248.1																						GTGTCATCTTGATCAGCCAAC	0.358000													19	80					0	0	0.007413	0	0
C1orf54	79630	broad.mit.edu	37	1	150249030	150249030	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:150249030C>G	ENST00000369102.1	+	6	1060	c.290C>G	c.(289-291)aCa>aGa	p.T97R	C1orf54_ENST00000369099.3_Missense_Mutation_p.T97R|C1orf54_ENST00000369098.3_Missense_Mutation_p.T97R			Q8WWF1	CA054_HUMAN	chromosome 1 open reading frame 54	97						extracellular region				breast(1)|endometrium(1)|large_intestine(2)|lung(2)|urinary_tract(1)	7	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			AAACCAGTAACAACGGAACCT	0.493000													23	44					0	0	0.002780	0	0
OR13J1	392309	broad.mit.edu	37	9	35869804	35869804	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr9:35869804G>C	ENST00000377981.2	-	1	657	c.595C>G	c.(595-597)Ctg>Gtg	p.L199V		NM_001004487.1	NP_001004487.1	Q8NGT2	O13J1_HUMAN	olfactory receptor, family 13, subfamily J, member 1	199					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|large_intestine(1)|lung(3)|skin(1)	6	all_epithelial(49;0.169)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00494)|STAD - Stomach adenocarcinoma(86;0.194)			CCCGCCAGCAGGAAGTCTTCG	0.627000													13	17					0	0	0.001855	0	0
ADAM23	8745	broad.mit.edu	37	2	207454155	207454155	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr2:207454155C>A	ENST00000264377.3	+	21	2203	c.1875C>A	c.(1873-1875)ttC>ttA	p.F625L	ADAM23_ENST00000374415.3_Missense_Mutation_p.F625L|ADAM23_ENST00000374416.1_Missense_Mutation_p.F625L	NM_003812.2	NP_003803.1	O75077	ADA23_HUMAN	ADAM metallopeptidase domain 23	625					cell adhesion|central nervous system development|proteolysis	extracellular region|integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	51				LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)		CTGACAAGTTCTGCTATGAAA	0.443000													12	21					4.36969e-10	5.89727e-10	0.001855	1	0
PRR14	78994	broad.mit.edu	37	16	30666694	30666694	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr16:30666694G>C	ENST00000542965.2	+	8	1723	c.1267G>C	c.(1267-1269)Gag>Cag	p.E423Q	PRR14_ENST00000300835.4_Missense_Mutation_p.E423Q|PRR14_ENST00000571654.1_3'UTR			Q9BWN1	PRR14_HUMAN	proline rich 14	423										breast(3)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	18			Colorectal(24;0.103)			CAAAGGGAAGGAGCCAAGAGC	0.547000													15	67					0	0	0.004990	0	0
KNTC1	9735	broad.mit.edu	37	12	123087242	123087242	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr12:123087242C>T	ENST00000333479.7	+	46	4957	c.4780C>T	c.(4780-4782)Cac>Tac	p.H1594Y	KNTC1_ENST00000450485.2_Intron|KNTC1_ENST00000436959.3_5'UTR|KNTC1_ENST00000537348.1_Missense_Mutation_p.H19Y	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1	1594					cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole	protein binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		ACTGCCTTTTCACCTGATATT	0.363000													10	41					0	0	0.001368	0	0
DYNC2H1	79659	broad.mit.edu	37	11	103128397	103128397	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr11:103128397G>T	ENST00000375735.2	+	69	10666	c.10522G>T	c.(10522-10524)Gat>Tat	p.D3508Y	DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Missense_Mutation_p.D3515Y	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	3508					cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		CATTATTTCTGATTTGTCCAA	0.438000													7	16					0.00198382	0.00212583	0.001984	1	0
MTMR4	9110	broad.mit.edu	37	17	56586171	56586171	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr17:56586171C>T	ENST00000323456.5	-	6	449	c.325G>A	c.(325-327)Gag>Aag	p.E109K	MTMR4_ENST00000579925.1_Missense_Mutation_p.E109K	NM_004687.4	NP_004678.3	Q9NYA4	MTMR4_HUMAN	myotubularin related protein 4	109						cytoplasm|membrane	metal ion binding|protein tyrosine phosphatase activity			breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GAGAGCCACTCTTGGCACTGC	0.587000													9	43					0	0	0.008291	0	0
STXBP5	134957	broad.mit.edu	37	6	147680251	147680251	+	Silent	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr6:147680251G>T	ENST00000367481.3	+	21	2337	c.2229G>T	c.(2227-2229)cgG>cgT	p.R743R	STXBP5_ENST00000367480.3_Silent_p.R726R|STXBP5_ENST00000179882.6_Silent_p.R434R|STXBP5_ENST00000321680.6_Silent_p.R779R	NM_139244.4	NP_640337.3	Q5T5C0	STXB5_HUMAN	syntaxin binding protein 5 (tomosyn)	779					exocytosis|positive regulation of exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|nicotinic acetylcholine-gated receptor-channel complex|synaptic vesicle	syntaxin-1 binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	42		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)		GCCGATCACGGAGTTCAAGTG	0.388000													13	22					7.93312e-07	9.54708e-07	0.002450	1	0
SRSF4	6429	broad.mit.edu	37	1	29481229	29481229	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:29481229G>T	ENST00000373795.4	-	4	791	c.557C>A	c.(556-558)tCc>tAc	p.S186Y	SRSF4_ENST00000546138.1_Intron|SRSF4_ENST00000466448.1_5'UTR	NM_005626.4	NP_005617.2	Q08170	SRSF4_HUMAN	serine/arginine-rich splicing factor 4	186	Arg/Ser-rich (RS domain).				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nuclear speck	nucleotide binding|RNA binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(1)	27						CCGGCTTCTGGAGTAGGACCG	0.403000													19	25					9.95505e-16	1.57711e-15	0.002299	1	0
FAM3D	131177	broad.mit.edu	37	3	58622031	58622031	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr3:58622031G>T	ENST00000358781.2	-	9	885	c.575C>A	c.(574-576)cCc>cAc	p.P192H		NM_138805.2	NP_620160.1	Q96BQ1	FAM3D_HUMAN	family with sequence similarity 3, member D	192					negative regulation of insulin secretion	extracellular region	cytokine activity			large_intestine(1)|lung(2)	3				BRCA - Breast invasive adenocarcinoma(55;0.000225)|Kidney(10;0.000667)|KIRC - Kidney renal clear cell carcinoma(10;0.000802)|OV - Ovarian serous cystadenocarcinoma(275;0.169)		CTGCTCAAAGGGGCTTTTACC	0.572000													27	11					3.73808e-20	6.50506e-20	0.005443	1	0
APEX2	27301	broad.mit.edu	37	X	55033666	55033666	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chrX:55033666G>T	ENST00000374987.3	+	6	1421	c.1355G>T	c.(1354-1356)cGg>cTg	p.R452L		NM_014481.2	NP_055296.2	Q9UBZ4	APEX2_HUMAN	APEX nuclease (apurinic/apyrimidinic endonuclease) 2	452					cell cycle|DNA recombination|DNA repair	nucleus	DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|endonuclease activity|exonuclease activity|zinc ion binding			breast(1)|endometrium(8)|large_intestine(4)|lung(6)|prostate(1)|urinary_tract(1)	21						AAGGAGTTACGGACCTCATTC	0.587000								Other BER factors					9	26					0.00448238	0.0047375	0.004482	1	0
PCDH7	5099	broad.mit.edu	37	4	30725755	30725755	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr4:30725755G>T	ENST00000361762.2	+	1	3719	c.2711G>T	c.(2710-2712)tGc>tTc	p.C904F	PCDH7_ENST00000543491.1_Missense_Mutation_p.C904F	NM_002589.2	NP_002580.2	O60245	PCDH7_HUMAN	protocadherin 7	904					homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						GCAAGGTACTGCAGGTCCAAA	0.388000													22	250					1.22574e-08	1.5927e-08	0.002299	1	0
LOC100420587	100420587	broad.mit.edu	37	19	29215121	29215121	+	RNA	SNP	A	A	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr19:29215121A>T	ENST00000592347.1	-	0	420																											CTCAAGCAGCACCTTGAGCAC	0.438000													4	13					0	0	0.009096	0	0
GPATCH3	63906	broad.mit.edu	37	1	27220829	27220829	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:27220829T>A	ENST00000361720.5	-	3	972	c.949A>T	c.(949-951)Act>Tct	p.T317S		NM_022078.2	NP_071361.2	Q96I76	GPTC3_HUMAN	G patch domain containing 3	317	Glu-rich.					intracellular	nucleic acid binding			endometrium(2)|large_intestine(1)|lung(11)|skin(1)	15		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.97e-51)|OV - Ovarian serous cystadenocarcinoma(117;9.55e-30)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|STAD - Stomach adenocarcinoma(196;0.000595)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|READ - Rectum adenocarcinoma(331;0.0419)		AGCTGCTCAGTGGTCCGCTCC	0.572000													25	91					0	0	0.006320	0	0
IQSEC2	23096	broad.mit.edu	37	X	53284096	53284096	+	Silent	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chrX:53284096C>T	ENST00000396435.3	-	4	1217	c.1017G>A	c.(1015-1017)agG>agA	p.R339R	IQSEC2_ENST00000375365.2_Silent_p.R134R|IQSEC2_ENST00000375368.5_Silent_p.R329R	NM_001111125.2	NP_001104595.1	Q5JU85	IQEC2_HUMAN	IQ motif and Sec7 domain 2	329	IQ.				regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(4)|skin(1)	29						CCCCATACTTCCTCTCCAGCA	0.592000													8	11					0	0	0.004482	0	0
FZD10	11211	broad.mit.edu	37	12	130648391	130648391	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr12:130648391G>T	ENST00000229030.4	+	1	1388	c.904G>T	c.(904-906)Gag>Tag	p.E302*	FZD10_ENST00000539839.1_Missense_Mutation_p.G269V			Q9ULW2	FZD10_HUMAN	frizzled family receptor 10	302					brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|vasculature development	cell projection|cell surface|cytoplasm|integral to plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1)	35	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)		TGTCATCCAGGAGGGACTGGA	0.647000													41	53					7.63091e-17	1.24246e-16	0.007835	1	0
CPS1	1373	broad.mit.edu	37	2	211464260	211464260	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr2:211464260G>T	ENST00000233072.5	+	14	1720	c.1524G>T	c.(1522-1524)atG>atT	p.M508I	CPS1_ENST00000451903.2_Missense_Mutation_p.M57I|CPS1_ENST00000430249.2_Missense_Mutation_p.M514I	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	508					carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		TTCTGGGCATGGGTGGCCAGA	0.443000													26	54					3.96558e-24	7.24472e-24	0.004656	1	0
ITGAX	3687	broad.mit.edu	37	16	31374645	31374645	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr16:31374645T>A	ENST00000268296.4	+	14	1781	c.1660T>A	c.(1660-1662)Tac>Aac	p.Y554N	ITGAX_ENST00000562522.1_Missense_Mutation_p.Y554N	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	554					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						GGGTGCTGTCTACCTGTTTCA	0.612000													31	108					0	0	0.002096	0	0
SOHLH2	54937	broad.mit.edu	37	13	36748981	36748981	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr13:36748981G>T	ENST00000379881.3	-	7	755	c.667C>A	c.(667-669)Cag>Aag	p.Q223K	CCDC169-SOHLH2_ENST00000511166.1_Missense_Mutation_p.Q300K|SOHLH2_ENST00000554962.1_Missense_Mutation_p.Q300K	NM_017826.2	NP_060296.2			spermatogenesis and oogenesis specific basic helix-loop-helix 2											autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;4.63e-08)|Epithelial(112;2.67e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00272)|BRCA - Breast invasive adenocarcinoma(63;0.00685)|GBM - Glioblastoma multiforme(144;0.0273)		GTACGCAGCTGCTCACAGCAA	0.383000													21	17					7.87624e-14	1.19735e-13	0.002780	1	0
OR4C16	219428	broad.mit.edu	37	11	55340325	55340325	+	Missense_Mutation	SNP	A	A	T	rs146728227	by1000genomes	TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr11:55340325A>T	ENST00000314634.3	+	1	722	c.722A>T	c.(721-723)cAc>cTc	p.H241L		NM_001004701.2	NP_001004701.2	Q8NGL9	OR4CG_HUMAN	olfactory receptor, family 4, subfamily C, member 16 (gene/pseudogene)	241					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41		all_epithelial(135;0.0748)				TGTGTCTCCCACATCATTGTG	0.388000													15	35					0	0	0.002450	0	0
DOCK6	57572	broad.mit.edu	37	19	11363464	11363464	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr19:11363464C>A	ENST00000294618.7	-	3	314	c.303G>T	c.(301-303)aaG>aaT	p.K101N		NM_020812.3	NP_065863.2	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6	101					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						CCCACTCATCCTTGGGGATCC	0.642000													23	8					4.22769e-11	5.90107e-11	0.006320	1	0
BRCA2	675	broad.mit.edu	37	13	32936676	32936676	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr13:32936676C>T	ENST00000544455.1	+	17	8049	c.7822C>T	c.(7822-7824)Cca>Tca	p.P2608S	BRCA2_ENST00000380152.3_Missense_Mutation_p.P2608S	NM_000059.3	NP_000050.2	P51587	BRCA2_HUMAN	breast cancer 2, early onset	2608					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		GTGTGACACTCCAGGTGTGGA	0.358000			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			26	19					0	0	0.005443	0	0
ELAVL4	1996	broad.mit.edu	37	1	50666841	50666841	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:50666841C>A	ENST00000371824.1	+	7	1349	c.1092C>A	c.(1090-1092)caC>caA	p.H364Q	ELAVL4_ENST00000371827.1_Missense_Mutation_p.H364Q|ELAVL4_ENST00000371823.4_Missense_Mutation_p.H378Q|ELAVL4_ENST00000357083.4_Missense_Mutation_p.H381Q|ELAVL4_ENST00000448907.2_Missense_Mutation_p.H367Q|ELAVL4_ENST00000371821.1_Missense_Mutation_p.H383Q|ELAVL4_ENST00000371819.1_Missense_Mutation_p.H369Q			P26378	ELAV4_HUMAN	ELAV like neuron-specific RNA binding protein 4	378	RRM 3.				mRNA processing		AU-rich element binding|mRNA 3'-UTR binding|nucleotide binding			NS(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	32						ACAAAGCCCACAAGTCCTGAA	0.448000													7	20					0.00307968	0.00327858	0.003080	1	0
PLCL2	23228	broad.mit.edu	37	3	17052968	17052968	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr3:17052968G>A	ENST00000418129.2	+	2	2217	c.1752G>A	c.(1750-1752)atG>atA	p.M584I	PLCL2_ENST00000396755.2_Missense_Mutation_p.M584I|PLCL2_ENST00000432376.1_Missense_Mutation_p.M584I	NM_001144382.1	NP_001137854.1	Q9UPR0	PLCL2_HUMAN	phospholipase C-like 2	710					intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						CAGGACTGATGATGGACCTGA	0.468000													21	35					0	0	0.010504	0	0
LRRK2	120892	broad.mit.edu	37	12	40697792	40697792	+	Silent	SNP	A	A	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr12:40697792A>T	ENST00000298910.7	+	27	3691	c.3633A>T	c.(3631-3633)ctA>ctT	p.L1211L	LRRK2_ENST00000343742.2_Silent_p.L1211L	NM_198578.3	NP_940980.3	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1211					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				TTCAGTACCTACCAGGTCCCG	0.358000													35	49					0	0	0.008740	0	0
ZFP90	146198	broad.mit.edu	37	16	68598371	68598371	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr16:68598371G>A	ENST00000570495.1	+	5	1973	c.1681G>A	c.(1681-1683)Gcc>Acc	p.A561T	ZFP90_ENST00000563169.2_Missense_Mutation_p.A561T|ZFP90_ENST00000398253.2_Missense_Mutation_p.A561T|RP11-615I2.7_ENST00000571720.1_RNA			Q8TF47	ZFP90_HUMAN	ZFP90 zinc finger protein	561					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00233)|Epithelial(162;0.0184)|all cancers(182;0.0946)		CTGTGGGAAAGCCTTTAGTCA	0.433000													25	61					0	0	0.005443	0	0
ZNF680	340252	broad.mit.edu	37	7	63981790	63981790	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr7:63981790T>A	ENST00000309683.6	-	4	1493	c.1342A>T	c.(1342-1344)Acc>Tcc	p.T448S		NM_178558.4	NP_848653.2	Q8NEM1	ZN680_HUMAN	zinc finger protein 680	448					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	27		Lung NSC(55;0.118)|all_lung(88;0.243)				TTAGTAAGGGTTGAAAATAAA	0.363000													14	12					0	0	0.003163	0	0
ZNF217	7764	broad.mit.edu	37	20	52193540	52193540	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr20:52193540C>A	ENST00000371471.2	-	4	2188	c.1763G>T	c.(1762-1764)gGc>gTc	p.G588V	ZNF217_ENST00000302342.3_Missense_Mutation_p.G588V			O75362	ZN217_HUMAN	zinc finger protein 217	588					negative regulation of transcription, DNA-dependent	histone deacetylase complex	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)			GACAGCGCTGCCCAGAACATT	0.423000													26	90					4.72057e-08	5.98538e-08	0.003954	1	0
ADAMTS20	80070	broad.mit.edu	37	12	43777690	43777690	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr12:43777690G>C	ENST00000389420.3	-	30	4542	c.4543C>G	c.(4543-4545)Cag>Gag	p.Q1515E		NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1515	TSP type-1 12.					proteinaceous extracellular matrix	zinc ion binding	p.Q1515*(1)		breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		CGGGTGGACTGATCACACATT	0.507000													34	66					0	0	0.003271	0	0
ECE1	1889	broad.mit.edu	37	1	21605875	21605875	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:21605875C>A	ENST00000357071.4	-	1	167	c.53G>T	c.(52-54)cGg>cTg	p.R18L	ECE1_ENST00000415912.2_Intron|ECE1_ENST00000436918.2_Intron|ECE1_ENST00000374893.6_Intron|ECE1_ENST00000264205.6_Intron	NM_001113347.1	NP_001106818.1	P42892	ECE1_HUMAN	endothelin converting enzyme 1	0					bradykinin catabolic process|calcitonin catabolic process|ear development|embryonic digit morphogenesis|endothelin maturation|heart development|positive regulation of receptor recycling|substance P catabolic process	early endosome|external side of plasma membrane|integral to membrane|intrinsic to endosome membrane|membrane fraction|perinuclear region of cytoplasm|plasma membrane|Weibel-Palade body	metal ion binding|metalloendopeptidase activity|protein homodimerization activity			endometrium(5)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	25		Lung NSC(340;1.14e-05)|all_lung(284;1.23e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00147)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0183)|OV - Ovarian serous cystadenocarcinoma(117;4.83e-27)|COAD - Colon adenocarcinoma(152;1.36e-06)|GBM - Glioblastoma multiforme(114;1.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000162)|STAD - Stomach adenocarcinoma(196;0.00326)|KIRC - Kidney renal clear cell carcinoma(1967;0.00755)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.206)		CCCCGGGCCCCGCTTCCCTTG	0.687000													14	10					1.36491e-13	2.05789e-13	0.001855	1	0
STAT2	6773	broad.mit.edu	37	12	56750052	56750052	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr12:56750052C>A	ENST00000314128.4	-	3	172	c.149G>T	c.(148-150)gGg>gTg	p.G50V	STAT2_ENST00000557235.1_Missense_Mutation_p.G50V|STAT2_ENST00000418572.2_Missense_Mutation_p.G50V			P52630	STAT2_HUMAN	signal transducer and activator of transcription 2, 113kDa	50					interspecies interaction between organisms|JAK-STAT cascade|regulation of transcription from RNA polymerase II promoter|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	cytosol|nucleoplasm|plasma membrane	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			NS(1)|endometrium(2)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|skin(3)	31						ATCATCACTCCCAAGTGCAGC	0.502000													18	41					0.00074312	0.000806926	0.006122	1	0
CSMD2	114784	broad.mit.edu	37	1	34123566	34123566	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:34123566G>T	ENST00000373381.4	-	27	4603	c.4427C>A	c.(4426-4428)cCc>cAc	p.P1476H	CSMD2_ENST00000373388.2_5'UTR|CSMD2_ENST00000373380.1_Missense_Mutation_p.P349H	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1436	CUB 9.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TGGCGGGCTGGGCTGCCAGAA	0.592000													24	44					1.5548e-18	2.62171e-18	0.005443	1	0
SOX14	8403	broad.mit.edu	37	3	137483993	137483993	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr3:137483993G>T	ENST00000306087.1	+	1	415	c.367G>T	c.(367-369)Gag>Tag	p.E123*		NM_004189.3	NP_004180.1	O95416	SOX14_HUMAN	SRY (sex determining region Y)-box 14	123					negative regulation of transcription from RNA polymerase II promoter|nervous system development|transcription, DNA-dependent	nucleus	sequence-specific DNA binding			large_intestine(2)|lung(12)	14						GAGCGCGCCCGAGAAAGCCCG	0.706000													18	18					4.75885e-15	7.44268e-15	0.004990	1	0
OR10K1	391109	broad.mit.edu	37	1	158435542	158435542	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:158435542C>A	ENST00000289451.2	+	1	271	c.191C>A	c.(190-192)gCc>gAc	p.A64D		NM_001004473.1	NP_001004473.1	Q8NGX5	O10K1_HUMAN	olfactory receptor, family 10, subfamily K, member 1	64					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	27	all_hematologic(112;0.0378)					TTCTTCCTTGCCATCCTTTCT	0.478000													22	84					7.33532e-06	8.52012e-06	0.003954	1	0
STAB2	55576	broad.mit.edu	37	12	104049297	104049297	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr12:104049297C>A	ENST00000388887.2	+	15	1876	c.1672C>A	c.(1672-1674)Cca>Aca	p.P558T	RP11-341G23.2_ENST00000551905.1_RNA	NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	558	FAS1 2.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						CATTTTTGTTCCAAATAATGA	0.438000													17	43					6.49762e-13	9.51298e-13	0.006122	1	0
ASMT	438	broad.mit.edu	37	X	1742071	1742071	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chrX:1742071C>G	ENST00000381241.3	+	2	308	c.109C>G	c.(109-111)Ctc>Gtc	p.L37V	ASMT_ENST00000381233.3_Missense_Mutation_p.L37V|ASMT_ENST00000381229.4_Missense_Mutation_p.L37V	NM_001171038.1|NM_004043.2	NP_001164509.1|NP_004034.2	P46597	HIOM_HUMAN	acetylserotonin O-methyltransferase	37					melatonin biosynthetic process|translation	cytosol	acetylserotonin O-methyltransferase activity|S-methyltransferase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	16		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GTTTGACCTTCTCGCCGAGGC	0.637000													9	21					0	0	0.004482	0	0
OTUD7B	56957	broad.mit.edu	37	1	149921592	149921592	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:149921592C>G	ENST00000369135.3	-	9	1357	c.1063G>C	c.(1063-1065)Gat>Cat	p.D355H		NM_020205.2	NP_064590.2	Q6GQQ9	OTU7B_HUMAN	OTU domain containing 7B	355	Catalytic.|OTU.|TRAF-binding.				negative regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|microtubule cytoskeleton|nucleus	cysteine-type peptidase activity|DNA binding|protein binding|zinc ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247)			TGGGCCTGATCATAGGCGAGC	0.517000													17	56					0	0	0.008871	0	0
MIR519B	574469	broad.mit.edu	37	19	54198477	54198477	+	RNA	SNP	C	C	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr19:54198477C>G	ENST00000385090.1	+	0	11					NR_030191.1																						CATGCTGTGACCCTCTAGAGG	0.403000													35	81					0	0	0.008740	0	0
CES5A	221223	broad.mit.edu	37	16	55886934	55886934	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr16:55886934G>C	ENST00000521992.1	-	11	1364	c.1219C>G	c.(1219-1221)Ccg>Gcg	p.P407A	CES5A_ENST00000520435.1_Missense_Mutation_p.P348A|CES5A_ENST00000290567.9_Missense_Mutation_p.P378A|CES5A_ENST00000518005.1_Missense_Mutation_p.P272A|CES5A_ENST00000541580.1_5'UTR|CES5A_ENST00000319165.9_Missense_Mutation_p.P378A	NM_001190158.1	NP_001177087.1	Q6NT32	EST5A_HUMAN	carboxylesterase 5A	378						extracellular region	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity			breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						TACTGAGGCGGGATGTGCTGT	0.453000													14	34					0	0	0.001855	0	0
CSMD3	114788	broad.mit.edu	37	8	113484862	113484862	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr8:113484862C>A	ENST00000297405.5	-	32	5597	c.5353G>T	c.(5353-5355)Gga>Tga	p.G1785*	CSMD3_ENST00000455883.2_Nonsense_Mutation_p.G1681*|CSMD3_ENST00000352409.3_Nonsense_Mutation_p.G1785*|CSMD3_ENST00000343508.3_Nonsense_Mutation_p.G1745*	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1785	CUB 10.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CAATTATGTCCCACACTGTAA	0.363000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			10	69					4.68919e-08	5.95073e-08	0.008291	1	0
TTC38	55020	broad.mit.edu	37	22	46681155	46681155	+	Silent	SNP	G	G	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr22:46681155G>C	ENST00000381031.3	+	9	889	c.813G>C	c.(811-813)gcG>gcC	p.A271A	TTC38_ENST00000445282.2_Silent_p.A213A	NM_017931.2	NP_060401.2	Q5R3I4	TTC38_HUMAN	tetratricopeptide repeat domain 38	271							binding			endometrium(4)|large_intestine(3)|lung(4)|ovary(1)	12						ATGAGGCCGCGCTGACCATCT	0.468000													14	53					0	0	0.003163	0	0
PCDH11X	27328	broad.mit.edu	37	X	91090514	91090514	+	Nonsense_Mutation	SNP	T	T	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chrX:91090514T>A	ENST00000373094.1	+	1	856	c.11T>A	c.(10-12)tTg>tAg	p.L4*	PCDH11X_ENST00000504220.1_Nonsense_Mutation_p.L4*|PCDH11X_ENST00000361724.1_Nonsense_Mutation_p.L4*|PCDH11X_ENST00000373097.1_Nonsense_Mutation_p.L4*|PCDH11X_ENST00000361655.2_Nonsense_Mutation_p.L4*|PCDH11X_ENST00000395337.2_Nonsense_Mutation_p.L4*|PCDH11X_ENST00000373088.1_Nonsense_Mutation_p.L4*|PCDH11X_ENST00000406881.1_Nonsense_Mutation_p.L4*|PCDH11X_ENST00000298274.8_Nonsense_Mutation_p.L4*	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	4					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						ATGGACTTGTTGTCCGGGACG	0.463000													33	41					0	0	0.009535	0	0
SEMA5A	9037	broad.mit.edu	37	5	9054200	9054200	+	Splice_Site	SNP	T	T	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr5:9054200T>G	ENST00000382496.5	-	19	3353	c.2689_splice	c.e19+1	p.P896_splice		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	896	TSP type-1 6.				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						GCCGCTTACCTGGGCAGGGCT	0.537000													25	38					0	0	0.006320	0	0
MRGPRE	116534	broad.mit.edu	37	11	3249866	3249866	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr11:3249866C>T	ENST00000389832.5	-	2	470	c.164G>A	c.(163-165)aGa>aAa	p.R55K	MRGPRE_ENST00000436689.2_Missense_Mutation_p.R54K|AC109309.4_ENST00000418995.2_RNA			Q86SM8	MRGRE_HUMAN	MAS-related GPR, member E	54						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	19		Medulloblastoma(188;0.00106)|all_epithelial(84;0.00111)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00529)|LUSC - Lung squamous cell carcinoma(625;0.19)		GAAGGGGTTTCTGTAGACATT	0.632000													26	59					0	0	0.005443	0	0
NCF2	4688	broad.mit.edu	37	1	183546792	183546792	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:183546792C>A	ENST00000413720.1	-	3	582	c.308G>T	c.(307-309)gGg>gTg	p.G103V	NCF2_ENST00000367536.1_Missense_Mutation_p.G103V|NCF2_ENST00000418089.1_Missense_Mutation_p.G103V|NCF2_ENST00000367535.3_Missense_Mutation_p.G103V	NM_001190794.1	NP_001177723.1	P19878	NCF2_HUMAN	neutrophil cytosolic factor 2	103					cellular defense response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex|nucleolus	electron carrier activity|protein C-terminus binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30						CAGCTGGTTCCCTCGAAGCTG	0.488000													12	70					4.36969e-10	5.89727e-10	0.001855	1	0
KLC2	64837	broad.mit.edu	37	11	66029663	66029663	+	Splice_Site	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr11:66029663G>A	ENST00000394065.2	+	2	1130	c.112_splice	c.e2+1	p.A38_splice	KLC2_ENST00000421552.1_Splice_Site_p.A100_splice|KLC2_ENST00000417856.1_Splice_Site_p.A177_splice|KLC2_ENST00000394066.2_Splice_Site_p.A100_splice|KLC2_ENST00000394067.2_Splice_Site_p.A177_splice|KLC2_ENST00000394078.1_Splice_Site_p.A177_splice|KLC2_ENST00000316924.5_Splice_Site_p.A177_splice			Q9H0B6	KLC2_HUMAN	kinesin light chain 2	177					blood coagulation	cytosol|kinesin complex|microtubule	microtubule motor activity|protein binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	24						GCAGAGCCCAGGTGCGGATGG	0.572000													11	21					0	0	0.008291	0	0
DNAAF1	123872	broad.mit.edu	37	16	84199407	84199407	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr16:84199407G>T	ENST00000378553.5	+	7	1006	c.882G>T	c.(880-882)tgG>tgT	p.W294C	DNAAF1_ENST00000563818.1_3'UTR|DNAAF1_ENST00000334315.5_Missense_Mutation_p.W294C	NM_178452.4	NP_848547.4	Q8NEP3	DAAF1_HUMAN	dynein, axonemal, assembly factor 1	294	LRRCT.				axonemal dynein complex assembly|cilium morphogenesis	cilium axoneme|cytoplasm|spindle pole	dynein binding			NS(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(4)|urinary_tract(1)	41						CGGAGGCCTGGGCTAGGGGAG	0.483000													27	66					5.60225e-13	8.25151e-13	0.009535	1	0
MUC17	140453	broad.mit.edu	37	7	100677982	100677982	+	Silent	SNP	T	T	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr7:100677982T>A	ENST00000306151.4	+	3	3349	c.3285T>A	c.(3283-3285)acT>acA	p.T1095T		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1095	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CAACCTCAACTTATAGTGAAG	0.507000													240	108					0	0	0.003610	0	0
THEG	51298	broad.mit.edu	37	19	375944	375944	+	Silent	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr19:375944G>T	ENST00000342640.4	-	1	69	c.27C>A	c.(25-27)ctC>ctA	p.L9L	THEG_ENST00000346878.2_Silent_p.L9L	NM_016585.4	NP_057669.1	Q9P2T0	THEG_HUMAN	theg spermatid protein	9					cell differentiation|chaperone-mediated protein complex assembly|multicellular organismal development|spermatogenesis	nucleus	protein binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)|soft_tissue(1)	29		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCTGGTTCCCGAGTGACCTTC	0.687000													10	15					3.86212e-05	4.3717e-05	0.008291	1	0
SRP54	6729	broad.mit.edu	37	14	35478009	35478009	+	Missense_Mutation	SNP	A	A	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr14:35478009A>T	ENST00000556994.1	+	8	854	c.457A>T	c.(457-459)Acc>Tcc	p.T153S	SRP54_ENST00000216774.6_Missense_Mutation_p.T153S|SRP54_ENST00000546080.1_Missense_Mutation_p.T104S|SRP54_ENST00000555557.1_Missense_Mutation_p.T89S			P61011	SRP54_HUMAN	signal recognition particle 54kDa	153	G-domain.				GTP catabolic process|response to drug|SRP-dependent cotranslational protein targeting to membrane, signal sequence recognition|SRP-dependent cotranslational protein targeting to membrane, translocation	cytosol|nuclear speck|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding|drug binding|endoplasmic reticulum signal peptide binding|GDP binding|GTP binding|nucleoside-triphosphatase activity|ribonucleoprotein binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	14	Breast(36;0.0545)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;2.48e-05)|Lung(238;3.13e-05)|Epithelial(34;0.0314)|all cancers(34;0.0797)|BRCA - Breast invasive adenocarcinoma(188;0.243)	GBM - Glioblastoma multiforme(112;0.0396)		ACAGAATGCTACCAAAGCAAG	0.279000													46	28					0	0	0.003610	0	0
PCDHB3	56132	broad.mit.edu	37	5	140482553	140482553	+	Missense_Mutation	SNP	T	T	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr5:140482553T>G	ENST00000231130.2	+	1	2320	c.2320T>G	c.(2320-2322)Ttc>Gtc	p.F774V		NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN		774					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TATCCCCAACTTCGTTGCTCA	0.517000													25	39					0	0	0.004289	0	0
SLC9C1	285335	broad.mit.edu	37	3	111898518	111898518	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr3:111898518C>T	ENST00000305815.5	-	23	3031	c.2779G>A	c.(2779-2781)Gat>Aat	p.D927N	SLC9C1_ENST00000487372.1_Missense_Mutation_p.D879N	NM_183061.1	NP_898884.1	Q4G0N8	S9A10_HUMAN	solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1	927					cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis	cilium|flagellar membrane|integral to membrane	solute:hydrogen antiporter activity										ACCATTTGATCAATCCCTAAA	0.338000													6	44					0	0	0.001168	0	0
LMAN1L	79748	broad.mit.edu	37	15	75115996	75115996	+	Silent	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr15:75115996C>A	ENST00000309664.5	+	12	1435	c.1296C>A	c.(1294-1296)ctC>ctA	p.L432L	RP11-414J4.2_ENST00000564823.1_RNA|LMAN1L_ENST00000379709.3_Silent_p.L420L	NM_021819.2	NP_068591.2	Q9HAT1	LMA1L_HUMAN	lectin, mannose-binding, 1 like	432						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						TCCTGGGCCTCCTGCAGGAGG	0.617000													20	23					1.50039e-11	2.13076e-11	0.001882	1	0
WNK3	65267	broad.mit.edu	37	X	54334508	54334508	+	Silent	SNP	A	A	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chrX:54334508A>G	ENST00000354646.2	-	5	1374	c.936T>C	c.(934-936)acT>acC	p.T312T	WNK3_ENST00000375169.3_Silent_p.T312T|WNK3_ENST00000375159.2_Silent_p.T312T	NM_020922.4	NP_065973.2	Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3	312	Protein kinase.				intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation	adherens junction|tight junction	ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity			autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						TAAACTCAGGAGTTCCTACAA	0.388000													11	26					0	0	0.001368	0	0
OR9I1	219954	broad.mit.edu	37	11	57886376	57886376	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr11:57886376G>A	ENST00000302610.1	-	1	540	c.541C>T	c.(541-543)Ctc>Ttc	p.L181F	OR9Q1_ENST00000335397.3_Intron	NM_001005211.1	NP_001005211.1	Q8NGQ6	OR9I1_HUMAN	olfactory receptor, family 9, subfamily I, member 1	181					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(2)|liver(1)|lung(15)|pancreas(1)|skin(1)|urinary_tract(1)	23		Breast(21;0.0589)				AGGGGTGGGAGGTCACAGAAG	0.488000													8	22					0	0	0.004482	0	0
DNAH10	196385	broad.mit.edu	37	12	124398903	124398903	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr12:124398903G>T	ENST00000409039.3	+	60	10051	c.10026G>T	c.(10024-10026)atG>atT	p.M3342I		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	3342					microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		ATGAGCTGATGCACCGGCGCG	0.597000													29	38					5.60225e-13	8.25151e-13	0.009535	1	0
POTEH	23784	broad.mit.edu	37	22	16287925	16287925	+	Translation_Start_Site	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr22:16287925G>T	ENST00000343518.6	-	0	12					NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H											NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						GTAGCCAGCAGATCGCGTCTA	0.532000													17	51					2.48551e-13	3.69426e-13	0.004990	1	0
FOLR2	2350	broad.mit.edu	37	11	71929695	71929695	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr11:71929695G>T	ENST00000449475.2	+	2	416	c.118G>T	c.(118-120)Gac>Tac	p.D40Y	FOLR2_ENST00000298223.6_Missense_Mutation_p.D23Y|FOLR2_ENST00000454954.2_Intron			P14207	FOLR2_HUMAN	folate receptor 2 (fetal)	23					folic acid transport	anchored to membrane|extracellular region|membrane fraction|plasma membrane	folic acid binding|receptor activity			breast(3)|large_intestine(3)|ovary(1)|skin(1)	8					Folic Acid(DB00158)	CAGTGCCCAGGACAGGACTGA	0.552000													4	18					0.000602214	0.000655377	0.000602	1	0
KIAA1755	85449	broad.mit.edu	37	20	36841559	36841559	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr20:36841559G>T	ENST00000279024.4	-	14	3759	c.3488C>A	c.(3487-3489)cCc>cAc	p.P1163H		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755	1163										breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				CTGCCTGGGGGGCTGCTGCCG	0.647000													37	34					8.16277e-20	1.41212e-19	0.006999	1	0
RASGRP4	115727	broad.mit.edu	37	19	38910548	38910548	+	Silent	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr19:38910548C>T	ENST00000454404.2	-	6	828	c.615G>A	c.(613-615)ctG>ctA	p.L205L	RASGRP4_ENST00000586305.1_Silent_p.L191L|RASGRP4_ENST00000426920.2_Silent_p.L205L|RASGRP4_ENST00000433821.2_Silent_p.L205L|RASGRP4_ENST00000587753.1_Silent_p.L205L|RASGRP4_ENST00000293062.9_Silent_p.L205L|RASGRP4_ENST00000587738.1_Silent_p.L205L	NM_001146205.1|NM_170604.2	NP_001139677.1|NP_733749.1	Q8TDF6	GRP4_HUMAN	RAS guanyl releasing protein 4	205	Ras-GEF.				activation of phospholipase C activity|cell growth|cell proliferation|myeloid cell differentiation|positive regulation of Ras protein signal transduction|regulation of G-protein coupled receptor protein signaling pathway|response to extracellular stimulus|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|membrane fraction|plasma membrane|soluble fraction	diacylglycerol binding|GTP-dependent protein binding|metal ion binding|Ras guanyl-nucleotide exchange factor activity			cervix(1)|kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|prostate(3)|skin(1)	23	all_cancers(60;4.21e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			GGTGCTGAGCCAGCTCCCCCG	0.647000													6	5					0	0	0.001168	0	0
CCT2	10576	broad.mit.edu	37	12	69991453	69991453	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr12:69991453C>G	ENST00000543146.2	+	12	1479	c.997C>G	c.(997-999)Caa>Gaa	p.Q333E	CCT2_ENST00000299300.6_Missense_Mutation_p.Q380E|CCT2_ENST00000544368.2_Missense_Mutation_p.Q380E	NM_001198842.1	NP_001185771.1	P78371	TCPB_HUMAN	chaperonin containing TCP1, subunit 2 (beta)	380					'de novo' posttranslational protein folding	nucleus	ATP binding|unfolded protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(1)	24	all_cancers(2;7.7e-106)|Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		Epithelial(6;2.72e-18)|GBM - Glioblastoma multiforme(2;2.58e-10)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			TGGTGCCACTCAACAAATTTT	0.393000													17	78					0	0	0.006122	0	0
TMEM198	130612	broad.mit.edu	37	2	220413950	220413950	+	Silent	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr2:220413950G>T	ENST00000344458.2	+	5	1404	c.819G>T	c.(817-819)cgG>cgT	p.R273R	TMEM198_ENST00000373883.3_Silent_p.R273R			Q66K66	TM198_HUMAN	transmembrane protein 198	273	Arg-rich.					integral to membrane				NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	16		Renal(207;0.0376)		Epithelial(149;6.49e-08)|all cancers(144;6.45e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		AGAAAAGGCGGAAAAAGAGAC	0.637000													19	82					5.35267e-07	6.5003e-07	0.007413	1	0
PROX1	5629	broad.mit.edu	37	1	214170420	214170420	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:214170420G>T	ENST00000366958.4	+	2	1150	c.542G>T	c.(541-543)aGt>aTt	p.S181I	PROX1_ENST00000498508.2_Missense_Mutation_p.S181I|PROX1_ENST00000261454.4_Missense_Mutation_p.S181I|PROX1_ENST00000435016.1_Missense_Mutation_p.S181I	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN	prospero homeobox 1	181					aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis	cytoplasm|nucleus	DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		CATTCCCCCAGTGTGGCATTA	0.493000													26	33					4.87955e-14	7.43334e-14	0.005443	1	0
CLEC14A	161198	broad.mit.edu	37	14	38724207	38724207	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr14:38724207T>A	ENST00000342213.2	-	1	1367	c.1021A>T	c.(1021-1023)Aca>Tca	p.T341S		NM_175060.2	NP_778230.1	Q86T13	CLC14_HUMAN	C-type lectin domain family 14, member A	341						integral to membrane	sugar binding			breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)		GGAATAGATGTTACTGAATTG	0.537000													30	215					0	0	0.002445	0	0
DST	667	broad.mit.edu	37	6	56481478	56481478	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr6:56481478C>T	ENST00000370765.6	-	24	6894	c.6787G>A	c.(6787-6789)Gtt>Att	p.V2263I	DST_ENST00000370788.2_Intron|DST_ENST00000312431.6_Intron|DST_ENST00000446842.2_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000370754.5_Intron|DST_ENST00000370769.4_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000361203.3_Intron	NM_001723.5	NP_001714.1	Q03001	DYST_HUMAN	dystonin	1605					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TCTGGAGGAACACGAATGCCT	0.443000													18	111					0	0	0.006122	0	0
NOX1	27035	broad.mit.edu	37	X	100103634	100103634	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chrX:100103634G>C	ENST00000372966.3	-	12	1758	c.1553C>G	c.(1552-1554)gCt>gGt	p.A518G	NOX1_ENST00000217885.5_Missense_Mutation_p.A469G|NOX1_ENST00000372964.1_Intron|NOX1_ENST00000372960.4_Missense_Mutation_p.A481G	NM_007052.4|NM_013955.2	NP_008983.2|NP_039249.1	Q9Y5S8	NOX1_HUMAN	NADPH oxidase 1	518	Interaction with NOXO1.				angiogenesis|cell migration|electron transport chain|FADH2 metabolic process|hydrogen peroxide metabolic process|inflammatory response|intracellular pH elevation|positive regulation of integrin biosynthetic process|positive regulation of smooth muscle cell proliferation|positive regulation vascular endothelial growth factor production|respiratory burst|response to pH|signal transduction|superoxide anion generation	cell junction|early endosome|invadopodium membrane|NADPH oxidase complex	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|Rac GTPase binding|superoxide-generating NADPH oxidase activity|voltage-gated proton channel activity			cervix(1)|lung(3)|ovary(1)|skin(2)	7						GTGGGAGGTAGCTATTGTAGA	0.473000													13	58					0	0	0.002450	0	0
USH2A	7399	broad.mit.edu	37	1	216591863	216591863	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:216591863C>A	ENST00000366943.2	-	3	1030	c.644G>T	c.(643-645)aGt>aTt	p.S215I	USH2A_ENST00000307340.3_Missense_Mutation_p.S215I|USH2A_ENST00000366942.3_Missense_Mutation_p.S215I			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	215					maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CACCTGCACACTAAGATGAAT	0.333000										HNSCC(13;0.011)			19	50					5.26018e-13	7.76326e-13	0.001882	1	0
SLC6A10P	386757	broad.mit.edu	37	16	32890630	32890630	+	RNA	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr16:32890630C>A	ENST00000330048.5	-	0	3168					NR_003083.2																						TTTTTGTAGACCAGCGGCTTG	0.627000													12	13					4.3838e-07	5.34583e-07	0.001855	1	0
GOLGA3	2802	broad.mit.edu	37	12	133373220	133373220	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr12:133373220C>A	ENST00000204726.3	-	10	2563	c.2005G>T	c.(2005-2007)Gac>Tac	p.D669Y	GOLGA3_ENST00000545875.1_Missense_Mutation_p.D669Y|GOLGA3_ENST00000537452.1_Missense_Mutation_p.D669Y|GOLGA3_ENST00000450791.2_Missense_Mutation_p.D669Y|GOLGA3_ENST00000456883.2_Missense_Mutation_p.D669Y	NM_005895.3	NP_005886.2	Q08378	GOGA3_HUMAN	golgin A3	669	Gln-rich.				intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity			breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		CTCTGAAGGTCCTCCTCCACC	0.562000													132	292					3.19997e-73	6.32663e-73	0.003610	1	0
TSIX	9383	broad.mit.edu	37	X	73043709	73043709	+	RNA	SNP	G	G	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chrX:73043709G>C	ENST00000604411.1	+	0	31670				XIST_ENST00000429829.1_lincRNA	NR_003255.2																						ACTCTATAATGATAACATCAT	0.363000													8	24					0	0	0.003080	0	0
HCCS	3052	broad.mit.edu	37	X	11132993	11132993	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chrX:11132993G>T	ENST00000321143.4	+	3	341	c.139G>T	c.(139-141)Gag>Tag	p.E47*	HCCS_ENST00000380762.4_Nonsense_Mutation_p.E47*|HCCS_ENST00000380763.3_Nonsense_Mutation_p.E47*	NM_001122608.2|NM_001171991.2|NM_005333.4	NP_001116080.1|NP_001165462.1|NP_005324.3	P53701	CCHL_HUMAN	holocytochrome c synthase	47					organ morphogenesis|oxidation-reduction process	mitochondrial inner membrane	holocytochrome-c synthase activity|metal ion binding			kidney(1)|large_intestine(3)|lung(3)	7						CCCAACCTGTGAGAAGAAAAC	0.483000													26	43					6.32553e-13	9.29815e-13	0.004656	1	0
APOB	338	broad.mit.edu	37	2	21229575	21229575	+	Missense_Mutation	SNP	T	T	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr2:21229575T>C	ENST00000233242.1	-	26	10292	c.10165A>G	c.(10165-10167)Aga>Gga	p.R3389G		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	3389	Basic (possible receptor binding region).|Heparin-binding.|LDL receptor binding.				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	CCCCTTTTTCTTGTCAATCTT	0.403000													21	112					0	0	0.010504	0	0
F5	2153	broad.mit.edu	37	1	169492497	169492497	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:169492497C>A	ENST00000367796.3	-	21	6202	c.6001G>T	c.(6001-6003)Gct>Tct	p.A2001S	F5_ENST00000367797.3_Missense_Mutation_p.A1996S			P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	1996	F5/8 type C 1.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	GAACTGTAAGCTACATAGAAC	0.438000													42	39					2.64894e-19	4.53442e-19	0.003610	1	0
PIM2	11040	broad.mit.edu	37	X	48772330	48772330	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chrX:48772330G>C	ENST00000376509.4	-	4	751	c.562C>G	c.(562-564)Ctg>Gtg	p.L188V		NM_006875.3	NP_006866.2	Q9P1W9	PIM2_HUMAN	pim-2 oncogene	188	Protein kinase.				anti-apoptosis|cell proliferation|male meiosis|positive regulation of autophagy|positive regulation of I-kappaB kinase/NF-kappaB cascade|response to virus		ATP binding|protein serine/threonine kinase activity			lung(3)|stomach(1)	4						TCATGAAGCAGGGCACCAGAA	0.488000													7	38					0	0	0.001984	0	0
ALPK2	115701	broad.mit.edu	37	18	56204009	56204009	+	Missense_Mutation	SNP	A	A	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr18:56204009A>C	ENST00000361673.3	-	5	3623	c.3410T>G	c.(3409-3411)gTc>gGc	p.V1137G	RP11-1151B14.4_ENST00000591360.1_RNA	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	1137							ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						CTGCTGCTGGACCCCCTGCTT	0.483000													46	92					0	0	0.003214	0	0
TYR	7299	broad.mit.edu	37	11	88961112	88961112	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr11:88961112C>G	ENST00000263321.5	+	3	1660	c.1158C>G	c.(1156-1158)ttC>ttG	p.F386L		NM_000372.4	NP_000363.1	P14679	TYRO_HUMAN	tyrosinase	386					eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception	Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm	copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)			Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157)	ATCCTATCTTCCTTCTTCACC	0.408000													31	35					0	0	0.002445	0	0
MUC3A	4584	broad.mit.edu	37	7	100552541	100552541	+	Missense_Mutation	SNP	T	T	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr7:100552541T>C	ENST00000319509.7	+	1	1292	c.1292T>C	c.(1291-1293)gTg>gCg	p.V431A						mucin 3A, cell surface associated											breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						AACAGTTCTGTGATCCCCCTA	0.537000													57	47					0	0	0.003610	0	0
FAM129A	116496	broad.mit.edu	37	1	184764460	184764460	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:184764460C>A	ENST00000367511.3	-	14	2631	c.2438G>T	c.(2437-2439)gGg>gTg	p.G813V	FAM129A_ENST00000487074.1_5'UTR	NM_052966.2	NP_443198.1	Q9BZQ8	NIBAN_HUMAN	family with sequence similarity 129, member A	813	Glu-rich.				negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress	cytoplasm|nucleus|plasma membrane				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						TGGGAGCTCCCCCTCCATGGG	0.657000													24	58					9.39395e-14	1.42512e-13	0.006320	1	0
KLF5	688	broad.mit.edu	37	13	73636638	73636638	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr13:73636638C>T	ENST00000377687.4	+	2	1437	c.901C>T	c.(901-903)Ccc>Tcc	p.P301S	KLF5_ENST00000539231.1_Missense_Mutation_p.P210S|KLF5_ENST00000477333.1_3'UTR	NM_001730.3	NP_001721.2	Q13887	KLF5_HUMAN	Kruppel-like factor 5 (intestinal)	301			P -> S (in a colorectal cancer sample; somatic mutation).		transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	p.P301S(1)		breast(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Prostate(6;0.00187)|Breast(118;0.0735)		GBM - Glioblastoma multiforme(99;0.0011)		CACTTACTTTCCCCCGTCACC	0.512000													46	25					0	0	0.002522	0	0
TAS1R3	83756	broad.mit.edu	37	1	1267812	1267812	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:1267812G>A	ENST00000339381.5	+	3	933	c.901G>A	c.(901-903)Gag>Aag	p.E301K		NM_152228.1	NP_689414.1	Q7RTX0	TS1R3_HUMAN	taste receptor, type 1, member 3	301					detection of chemical stimulus involved in sensory perception of sweet taste|sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity	p.E301K(1)		kidney(2)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	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;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.88e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.146)	Aspartame(DB00168)	GGTGGCCAGCGAGGCCTGGCT	0.672000													8	8					0	0	0.004482	0	0
ATRX	546	broad.mit.edu	37	X	76938718	76938718	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chrX:76938718G>T	ENST00000373344.5	-	9	2244	c.2030C>A	c.(2029-2031)tCa>tAa	p.S677*	ATRX_ENST00000395603.3_Nonsense_Mutation_p.S639*|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	677					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	TTCTTCATCTGAATTAGATGT	0.373000			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						50	125					1.30916e-28	2.4654e-28	0.003610	1	0
ASXL3	80816	broad.mit.edu	37	18	31326557	31326557	+	Nonstop_Mutation	SNP	T	T	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr18:31326557T>C	ENST00000269197.5	+	12	6745	c.6745T>C	c.(6745-6747)Taa>Caa	p.*2249Q		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	0					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						GGTTGTACGATAAGAGCTGAG	0.453000													18	66					0	0	0.002780	0	0
NCOA4	8031	broad.mit.edu	37	10	51584853	51584853	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr10:51584853G>C	ENST00000452682.1	+	9	1252	c.1000G>C	c.(1000-1002)Gag>Cag	p.E334Q	NCOA4_ENST00000443446.1_Missense_Mutation_p.E318Q|NCOA4_ENST00000344348.6_Missense_Mutation_p.E318Q|NCOA4_ENST00000414907.2_Missense_Mutation_p.E152Q|NCOA4_ENST00000374087.4_Missense_Mutation_p.E318Q|NCOA4_ENST00000430396.2_Missense_Mutation_p.E218Q|NCOA4_ENST00000438493.1_Missense_Mutation_p.E334Q|NCOA4_ENST00000374082.1_Missense_Mutation_p.E318Q	NM_001145260.1	NP_001138732.1	Q13772	NCOA4_HUMAN	nuclear receptor coactivator 4	318					androgen receptor signaling pathway|male gonad development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	androgen receptor binding|transcription coactivator activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|skin(1)	5						GCGGAAGCCTGAGAATGGCAG	0.453000			T	RET	papillary thyroid								27	35					0	0	0.006320	0	0
OAS3	4940	broad.mit.edu	37	12	113405356	113405356	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr12:113405356G>C	ENST00000228928.7	+	13	3002	c.2823G>C	c.(2821-2823)aaG>aaC	p.K941N	RP1-71H24.1_ENST00000552784.1_RNA	NM_006187.2	NP_006178.2	Q9Y6K5	OAS3_HUMAN	2'-5'-oligoadenylate synthetase 3, 100kDa	941	OAS domain 3.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	microsome	ATP binding|nucleotidyltransferase activity|RNA binding			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|skin(2)	27						GCCCTACCAAGCTGAAGAGCC	0.567000													15	18					0	0	0.007413	0	0
HTATSF1	27336	broad.mit.edu	37	X	135593100	135593100	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chrX:135593100C>G	ENST00000535601.1	+	10	1618	c.1196C>G	c.(1195-1197)gCa>gGa	p.A399G	HTATSF1_ENST00000218364.4_Missense_Mutation_p.A399G	NM_001163280.1	NP_001156752.1	O43719	HTSF1_HUMAN	HIV-1 Tat specific factor 1	399	Mediates interaction with the P-TEFb complex.				regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|viral genome replication	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(3)|prostate(1)	30	Acute lymphoblastic leukemia(192;0.000127)					CCTTCTAGAGCAAGGCATTTT	0.483000													31	91					0	0	0.002445	0	0
PLEC	5339	broad.mit.edu	37	8	144991533	144991533	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr8:144991533C>T	ENST00000322810.4	-	32	13036	c.12867G>A	c.(12865-12867)atG>atA	p.M4289I	PLEC_ENST00000354589.3_Missense_Mutation_p.M4152I|PLEC_ENST00000527096.1_Missense_Mutation_p.M4175I|PLEC_ENST00000345136.3_Missense_Mutation_p.M4152I|PLEC_ENST00000356346.3_Missense_Mutation_p.M4138I|PLEC_ENST00000436759.2_Missense_Mutation_p.M4179I|PLEC_ENST00000357649.2_Missense_Mutation_p.M4156I|PLEC_ENST00000398774.2_Missense_Mutation_p.M4120I|PLEC_ENST00000354958.2_Missense_Mutation_p.M4130I	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	4289	Binding to intermediate filaments (By similarity).|Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CGTACACTGACATCTCCTTGC	0.622000													23	28					0	0	0.003954	0	0
ACTG2	72	broad.mit.edu	37	2	74143844	74143844	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr2:74143844G>T	ENST00000409624.1	+	9	1582	c.939G>T	c.(937-939)agG>agT	p.R313S	ACTG2_ENST00000345517.3_Missense_Mutation_p.R313S|ACTG2_ENST00000409731.3_Missense_Mutation_p.R270S			P63267	ACTH_HUMAN	actin, gamma 2, smooth muscle, enteric	313					muscle contraction	cytoskeleton|cytosol	ATP binding			large_intestine(3)|lung(14)|skin(1)	18						TTGCTGACAGGATGCAGAAGG	0.498000													54	40					2.25088e-17	3.706e-17	0.003610	1	0
NELL1	4745	broad.mit.edu	37	11	20959377	20959377	+	Missense_Mutation	SNP	T	T	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr11:20959377T>G	ENST00000298925.5	+	11	1280	c.1127T>G	c.(1126-1128)aTt>aGt	p.I376S	NELL1_ENST00000357134.5_Missense_Mutation_p.I348S|NELL1_ENST00000325319.5_Missense_Mutation_p.I291S|NELL1_ENST00000532434.1_Missense_Mutation_p.I348S			Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	348	VWFC 2.				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity			NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						GGCCAGCGGATTTTAACCAAG	0.408000													7	99					0	0	0.003080	0	0
ADCY5	111	broad.mit.edu	37	3	123019011	123019011	+	Silent	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr3:123019011G>A	ENST00000462833.1	-	15	4068	c.2856C>T	c.(2854-2856)gtC>gtT	p.V952V	ADCY5_ENST00000309879.5_Silent_p.V602V|ADCY5_ENST00000491190.1_Silent_p.V585V	NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN	adenylate cyclase 5	952					activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		CGAAGAGCGTGACACCTGGCA	0.622000													11	52					0	0	0.000978	0	0
RP1L1	94137	broad.mit.edu	37	8	10469162	10469162	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr8:10469162C>A	ENST00000382483.3	-	4	2669	c.2446G>T	c.(2446-2448)Ggg>Tgg	p.G816W		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	816					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		CCCACCGCCCCTTGCTCAGGC	0.692000													7	16					2.0095e-06	2.37928e-06	0.001984	1	0
ZC3H6	376940	broad.mit.edu	37	2	113089870	113089870	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr2:113089870G>T	ENST00000409871.1	+	12	3776	c.3375G>T	c.(3373-3375)caG>caT	p.Q1125H	ZC3H6_ENST00000343936.4_Missense_Mutation_p.Q1125H	NM_198581.2	NP_940983.2	P61129	ZC3H6_HUMAN	zinc finger CCCH-type containing 6	1125							nucleic acid binding|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(4)|prostate(2)	35						GTAAGGTTCAGGTCCCAGCAG	0.567000													11	26					1.58986e-06	1.89159e-06	0.008291	1	0
PTPRT	11122	broad.mit.edu	37	20	40710553	40710553	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr20:40710553C>T	ENST00000373198.3	-	31	4542	c.4307G>A	c.(4306-4308)cGt>cAt	p.R1436H	PTPRT_ENST00000356100.2_Missense_Mutation_p.R1423H|PTPRT_ENST00000373201.1_Missense_Mutation_p.R1404H|PTPRT_ENST00000373184.1_Missense_Mutation_p.R1424H|PTPRT_ENST00000373193.3_Missense_Mutation_p.R1417H|PTPRT_ENST00000373187.1_Missense_Mutation_p.R1414H|PTPRT_ENST00000373190.1_Missense_Mutation_p.R1413H	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	1414	Tyrosine-protein phosphatase 2.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				TTTGTTGTTACGCAGTGTTTT	0.507000													38	59					0	0	0.007835	0	0
DNAH9	1770	broad.mit.edu	37	17	11513774	11513774	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr17:11513774T>A	ENST00000262442.3	+	3	744	c.676T>A	c.(676-678)Tac>Aac	p.Y226N	DNAH9_ENST00000579406.1_3'UTR|DNAH9_ENST00000579828.1_Missense_Mutation_p.Y226N|DNAH9_ENST00000454412.2_Missense_Mutation_p.Y226N	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	226	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CAAATGGAGCTACCAAGTCCA	0.443000													5	30					0	0	0.000602	0	0
GPR158	57512	broad.mit.edu	37	10	25887426	25887426	+	Silent	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr10:25887426C>A	ENST00000376351.3	+	11	3230	c.2871C>A	c.(2869-2871)gcC>gcA	p.A957A	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	957						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						AAGATCCTGCCCCCCAAAACT	0.443000													28	32					2.61193e-14	4.01226e-14	0.009535	1	0
ADAMTS12	81792	broad.mit.edu	37	5	33576721	33576721	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr5:33576721G>T	ENST00000504830.1	-	19	3745	c.3410C>A	c.(3409-3411)aCt>aAt	p.T1137N	ADAMTS12_ENST00000352040.3_Missense_Mutation_p.T1052N	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1137	Spacer 2.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						CACAGGCCAAGTGATAGGGTT	0.478000										HNSCC(64;0.19)			17	55					1.02788e-11	1.46399e-11	0.004990	1	0
GRID1	2894	broad.mit.edu	37	10	87487652	87487652	+	Missense_Mutation	SNP	T	T	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr10:87487652T>G	ENST00000327946.7	-	10	1578	c.1493A>C	c.(1492-1494)aAc>aCc	p.N498T	GRID1_ENST00000536331.1_Missense_Mutation_p.N69T	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	498						cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106					L-Glutamic Acid(DB00142)	CCAGGAGGTGTTATGGAGCTG	0.552000										Multiple Myeloma(13;0.14)			11	63					0	0	0.008291	0	0
SETD1A	9739	broad.mit.edu	37	16	30975431	30975431	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr16:30975431G>T	ENST00000262519.8	+	6	1342	c.656G>T	c.(655-657)cGc>cTc	p.R219L		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	219					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck|Set1C/COMPASS complex	histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						TCCCGCCGCCGCTCTTCCTCT	0.622000													26	47					1.5548e-18	2.62171e-18	0.005443	1	0
DCHS1	8642	broad.mit.edu	37	11	6662136	6662136	+	Missense_Mutation	SNP	C	C	A	rs149950385		TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr11:6662136C>A	ENST00000299441.3	-	2	1120	c.709G>T	c.(709-711)Gcc>Tcc	p.A237S		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	237	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGGGCCTGGGCCCTCCGGGGG	0.597000													26	68					4.87955e-14	7.43334e-14	0.005443	1	0
ECEL1	9427	broad.mit.edu	37	2	233349214	233349214	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr2:233349214C>A	ENST00000304546.1	-	6	1362	c.1152G>T	c.(1150-1152)caG>caT	p.Q384H	ECEL1_ENST00000409941.1_Missense_Mutation_p.Q384H	NM_004826.2	NP_004817.2	O95672	ECEL1_HUMAN	endothelin converting enzyme-like 1	384					neuropeptide signaling pathway|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000771)|Lung(119;0.00213)|LUSC - Lung squamous cell carcinoma(224;0.00746)		GCTGCGACACCTGCTGCATGT	0.592000													75	84					7.62596e-35	1.46239e-34	0.003610	1	0
NAV3	89795	broad.mit.edu	37	12	78522533	78522533	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr12:78522533G>T	ENST00000397909.2	+	18	4501	c.4328G>T	c.(4327-4329)tGg>tTg	p.W1443L	NAV3_ENST00000228327.6_Missense_Mutation_p.W1443L|NAV3_ENST00000266692.7_Missense_Mutation_p.W1266L|NAV3_ENST00000536525.2_Missense_Mutation_p.W1443L			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1443	Ser-rich.					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						GGCAAAGAGTGGTTGCGTTCT	0.502000										HNSCC(70;0.22)			39	59					1.62957e-23	2.96231e-23	0.008740	1	0
NEU2	4759	broad.mit.edu	37	2	233899029	233899029	+	Silent	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr2:233899029C>A	ENST00000233840.3	+	2	405	c.405C>A	c.(403-405)acC>acA	p.T135T		NM_005383.2	NP_005374.2	Q9Y3R4	NEUR2_HUMAN	sialidase 2 (cytosolic sialidase)	135							exo-alpha-sialidase activity			endometrium(3)|large_intestine(2)|lung(10)|skin(2)|urinary_tract(1)	18		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0271)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0839)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0488)		ACGGGAGGACCTGGAGCTCCC	0.637000													9	32					3.86212e-05	4.3717e-05	0.008291	1	0
GPRASP1	9737	broad.mit.edu	37	X	101911151	101911151	+	Silent	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chrX:101911151G>A	ENST00000537097.1	+	6	3123	c.2310G>A	c.(2308-2310)agG>agA	p.R770R	RP4-769N13.7_ENST00000602441.1_RNA|GPRASP1_ENST00000444152.1_Silent_p.R770R|GPRASP1_ENST00000415986.1_Silent_p.R770R|GPRASP1_ENST00000361600.5_Silent_p.R770R	NM_001184727.1	NP_001171656.1	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting protein 1	770	Glu-rich.					cytoplasm	protein binding			NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						AAGAGTCCAGGCCAGAAGCTG	0.488000													24	72					0	0	0.002780	0	0
CCDC135	84229	broad.mit.edu	37	16	57765153	57765153	+	Nonsense_Mutation	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr16:57765153C>T	ENST00000360716.3	+	19	2829	c.2608C>T	c.(2608-2610)Cag>Tag	p.Q870*	CCDC135_ENST00000394337.4_Nonsense_Mutation_p.Q870*|CCDC135_ENST00000336825.8_Nonsense_Mutation_p.Q805*			Q8IY82	CC135_HUMAN	coiled-coil domain containing 135	870						cytoplasm				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						GGGGGAGCTCCAGAAAATATT	0.567000													14	26					0	0	0.004990	0	0
MEX3B	84206	broad.mit.edu	37	15	82336839	82336839	+	Silent	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr15:82336839C>T	ENST00000329713.4	-	2	807	c.372G>A	c.(370-372)cgG>cgA	p.R124R	MEX3B_ENST00000558133.1_3'UTR	NM_032246.3	NP_115622.2	Q6ZN04	MEX3B_HUMAN	mex-3 RNA binding family member B	124	KH 1.				protein autophosphorylation	cytoplasmic mRNA processing body|nucleus	calcium ion binding|RNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|upper_aerodigestive_tract(1)	19						TGATCTCCCTCCGAGCCATGG	0.622000													6	19					0	0	0.003080	0	0
AAR2	25980	broad.mit.edu	37	20	34827870	34827870	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr20:34827870C>A	ENST00000373932.3	+	2	426	c.80C>A	c.(79-81)cCc>cAc	p.P27H	AAR2_ENST00000320849.4_Missense_Mutation_p.P27H|AAR2_ENST00000397286.3_Missense_Mutation_p.P27H	NM_015511.3	NP_056326.2			AAR2 splicing factor homolog (S. cerevisiae)																		CTGAACATGCCCAAGGGAACA	0.582000													40	40					3.05275e-18	5.12987e-18	0.003214	1	0
RRAGB	10325	broad.mit.edu	37	X	55744767	55744767	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chrX:55744767G>A	ENST00000374941.4	+	1	596	c.7G>A	c.(7-9)Gaa>Aaa	p.E3K	RRAGB_ENST00000262850.7_Missense_Mutation_p.E3K	NM_006064.4	NP_006055.3	Q5VZM2	RRAGB_HUMAN	Ras-related GTP binding B	3					cellular protein localization|cellular response to amino acid stimulus|positive regulation of TOR signaling cascade|signal transduction	Golgi apparatus|lysosome|nucleus	GTP binding|protein binding			breast(1)|endometrium(3)|large_intestine(5)|lung(3)|pancreas(1)|prostate(1)	14						CGCAATGGAAGAATCTGACTC	0.463000											OREG0019812	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	14					0	0	0.000602	0	0
PDE3A	5139	broad.mit.edu	37	12	20807013	20807013	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr12:20807013G>A	ENST00000359062.3	+	15	3098	c.3058G>A	c.(3058-3060)Gga>Aga	p.G1020R	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	1020	Catalytic (By similarity).				lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	TGATTCAGCAGGACTAATGCC	0.507000													18	42					0	0	0.006122	0	0
ANKS6	203286	broad.mit.edu	37	9	101536239	101536239	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr9:101536239C>A	ENST00000353234.4	-	9	1788	c.1741G>T	c.(1741-1743)Ggg>Tgg	p.G581W	ANKS6_ENST00000375019.2_Missense_Mutation_p.G280W|ANKS6_ENST00000540940.1_Missense_Mutation_p.G386W|ANKS6_ENST00000375018.1_Missense_Mutation_p.G581W			Q68DC2	ANKS6_HUMAN	ankyrin repeat and sterile alpha motif domain containing 6	581										endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	21		Acute lymphoblastic leukemia(62;0.0527)				TCTGCCTTCCCGTTGTGACGC	0.617000													21	21					3.28513e-13	4.86305e-13	0.003954	1	0
SLC6A10P	386757	broad.mit.edu	37	16	32890601	32890601	+	RNA	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr16:32890601C>A	ENST00000330048.5	-	0	3197					NR_003083.2																						CCTCACCCCACCACGGGTACA	0.592000													3	15					0.00909568	0.0094903	0.009096	1	0
POLA1	5422	broad.mit.edu	37	X	24751887	24751887	+	Missense_Mutation	SNP	A	A	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chrX:24751887A>G	ENST00000379068.3	+	17	1830	c.1787A>G	c.(1786-1788)aAg>aGg	p.K596R	POLA1_ENST00000379059.3_Missense_Mutation_p.K590R|POLA1_ENST00000493342.1_3'UTR			P09884	DPOLA_HUMAN	polymerase (DNA directed), alpha 1, catalytic subunit	590					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)	TCTAAACCAAAGGACTGTATT	0.328000													10	34					0	0	0.001368	0	0
DRD1	1812	broad.mit.edu	37	5	174869971	174869971	+	Silent	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr5:174869971G>T	ENST00000393752.2	-	2	1124	c.132C>A	c.(130-132)gtC>gtA	p.V44V		NM_000794.3	NP_000785.1	P21728	DRD1_HUMAN	dopamine receptor D1	44					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|adult walking behavior|cerebral cortex GABAergic interneuron migration|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|mating behavior|positive regulation of cAMP biosynthetic process|positive regulation of cell migration|positive regulation of potassium ion transport|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of synaptic transmission, glutamatergic|prepulse inhibition|response to drug|synapse assembly|visual learning	endoplasmic reticulum membrane|membrane fraction	protein binding	p.V44V(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(89;0.00895)|Renal(175;0.000159)|Lung NSC(126;0.00625)|all_lung(126;0.0104)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Carphenazine(DB01038)|Chlorprothixene(DB01239)|Clozapine(DB00363)|Cocaine(DB00907)|Dopamine(DB00988)|Fenoldopam(DB00800)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methylergonovine(DB00353)|Minaprine(DB00805)|Olanzapine(DB00334)|Pegademase bovine(DB00061)|Pergolide(DB01186)|Perphenazine(DB00850)|Prochlorperazine(DB00433)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Triflupromazine(DB00508)|Zuclopenthixol(DB01624)	CGGCAGCACAGACCAGCGTGT	0.577000													12	23					6.40141e-05	7.20711e-05	0.000978	1	0
TGM6	343641	broad.mit.edu	37	20	2375918	2375918	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr20:2375918C>G	ENST00000202625.2	+	3	321	c.260C>G	c.(259-261)gCa>gGa	p.A87G	TGM6_ENST00000477505.1_Intron|TGM6_ENST00000381423.1_Missense_Mutation_p.A87G	NM_198994.2	NP_945345.2	O95932	TGM3L_HUMAN	transglutaminase 6	87					cell death|peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52					L-Glutamine(DB00130)	GGCTGGACAGCAGCAAGGGAG	0.612000													4	16					0	0	0.009096	0	0
BEND2	139105	broad.mit.edu	37	X	18221737	18221737	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chrX:18221737C>A	ENST00000380033.4	-	5	923	c.791G>T	c.(790-792)cGa>cTa	p.R264L	BEND2_ENST00000380030.3_Missense_Mutation_p.R264L	NM_153346.4	NP_699177.2	Q8NDZ0	BEND2_HUMAN	BEN domain containing 2	264										NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1)	49						GGATTCTCTTCGTGACAGAAC	0.463000													22	61					0.000229342	0.00025392	0.001882	1	0
FAP	2191	broad.mit.edu	37	2	163039931	163039931	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr2:163039931C>A	ENST00000188790.4	-	21	2069	c.1862G>T	c.(1861-1863)tGg>tTg	p.W621L	FAP_ENST00000443424.1_Missense_Mutation_p.W596L	NM_004460.2	NP_004451.2	Q12884	SEPR_HUMAN	fibroblast activation protein, alpha	621					endothelial cell migration|negative regulation of extracellular matrix disassembly|proteolysis	cell junction|integral to membrane|invadopodium membrane|lamellipodium membrane	dipeptidyl-peptidase activity|metalloendopeptidase activity|protein homodimerization activity|serine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)	63						CACCCAGCCCCATATGGCTAT	0.294000													51	56					9.77497e-20	1.68506e-19	0.003610	1	0
GNAS	2778	broad.mit.edu	37	20	57429950	57429950	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr20:57429950C>T	ENST00000371100.4	+	1	2182	c.1630C>T	c.(1630-1632)Cgg>Tgg	p.R544W	GNAS_ENST00000371098.2_Intron|GNAS_ENST00000371075.3_Intron|GNAS_ENST00000306120.3_Silent_p.R480R|GNAS_ENST00000371102.4_Missense_Mutation_p.R544W|GNAS_ENST00000603534.1_Intron|GNAS_ENST00000371099.2_Missense_Mutation_p.R544W|GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000313949.7_Intron	NM_001077490.1|NM_080425.2	NP_001070958.1|NP_536350.2	P63092	GNAS2_HUMAN	GNAS complex locus	0					activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity			adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			GCCTACTCCGCGGCCTACTCG	0.716000			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)			6	6					0	0	0.001168	0	0
PRKDC	5591	broad.mit.edu	37	8	48772236	48772236	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr8:48772236C>T	ENST00000314191.2	-	47	6196	c.6140G>A	c.(6139-6141)gGa>gAa	p.G2047E	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Missense_Mutation_p.G2047E	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	2048					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				GCTCTGAACTCCGGTTGAGAA	0.423000								Non-homologous end-joining					42	96					0	0	0.009718	0	0
PLCB4	5332	broad.mit.edu	37	20	9402085	9402085	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr20:9402085G>T	ENST00000378501.2	+	23	2275	c.2260G>T	c.(2260-2262)Gaa>Taa	p.E754*	PLCB4_ENST00000334005.3_Nonsense_Mutation_p.E754*|PLCB4_ENST00000378473.3_Nonsense_Mutation_p.E766*|PLCB4_ENST00000414679.2_Nonsense_Mutation_p.E766*|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000378493.1_Nonsense_Mutation_p.E754*|PLCB4_ENST00000278655.4_Nonsense_Mutation_p.E754*	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN	phospholipase C, beta 4	754	C2.				intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						AGTTTACAATGAAGAGTCATT	0.418000													17	33					1.01871e-10	1.40456e-10	0.008871	1	0
SLFN11	91607	broad.mit.edu	37	17	33690515	33690515	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr17:33690515G>T	ENST00000394566.1	-	4	584	c.312C>A	c.(310-312)taC>taA	p.Y104*	SLFN11_ENST00000308377.4_Nonsense_Mutation_p.Y104*	NM_001104587.1|NM_001104588.1|NM_001104589.1|NM_001104590.1	NP_001098057.1|NP_001098058.1|NP_001098059.1|NP_001098060.1	Q7Z7L1	SLN11_HUMAN	schlafen family member 11	104						nucleus	ATP binding			autonomic_ganglia(1)|breast(1)|kidney(3)|large_intestine(14)|lung(17)|ovary(1)|prostate(4)|skin(2)|stomach(5)|upper_aerodigestive_tract(2)	50		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		TAACAAAAATGTAAAAACACC	0.448000													33	44					8.16721e-17	1.32683e-16	0.002096	1	0
KIAA1462	57608	broad.mit.edu	37	10	30315157	30315157	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr10:30315157C>A	ENST00000375377.1	-	3	4021	c.3920G>T	c.(3919-3921)aGt>aTt	p.S1307I		NM_020848.2	NP_065899.1	Q9P266	K1462_HUMAN	KIAA1462	1307										breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						ACGGTCCCCACTGCCAGGAGA	0.622000													21	44					2.89027e-11	4.04582e-11	0.002299	1	0
ZNF831	128611	broad.mit.edu	37	20	57768774	57768774	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr20:57768774G>C	ENST00000371030.2	+	1	2700	c.2700G>C	c.(2698-2700)agG>agC	p.R900S		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	900						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					TGGGGCCAAGGGACAAGGCTA	0.672000													20	35					0	0	0.010504	0	0
SH3RF3	344558	broad.mit.edu	37	2	110015186	110015186	+	Silent	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr2:110015186G>T	ENST00000309415.6	+	4	1086	c.1086G>T	c.(1084-1086)gcG>gcT	p.A362A		NM_001099289.1	NP_001092759.1	Q8TEJ3	SH3R3_HUMAN	SH3 domain containing ring finger 3	362							zinc ion binding			endometrium(2)|kidney(1)|large_intestine(6)|liver(2)|lung(5)|ovary(2)	18						GCTCAGGGGCGGTCAGTGCCT	0.632000													3	21					0.00024832	0.000273693	0.009096	1	0
OR9A4	130075	broad.mit.edu	37	7	141618956	141618956	+	Missense_Mutation	SNP	T	T	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr7:141618956T>G	ENST00000548136.1	+	1	340	c.281T>G	c.(280-282)tTg>tGg	p.L94W	MGAM_ENST00000497554.1_Intron	NM_001001656.1	NP_001001656.1	Q8NGU2	OR9A4_HUMAN	olfactory receptor, family 9, subfamily A, member 4	94					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|large_intestine(9)|lung(7)|prostate(1)|skin(2)	22	Melanoma(164;0.0171)					ACAATATATTTGTCTGCCTGT	0.527000													11	87					0	0	0.001368	0	0
NXF5	55998	broad.mit.edu	37	X	101092590	101092590	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chrX:101092590G>T	ENST00000537026.1	-	15	1315	c.956C>A	c.(955-957)cCa>cAa	p.P319Q	NXF5_ENST00000361708.2_Missense_Mutation_p.P319Q|NXF5_ENST00000473265.2_Missense_Mutation_p.P319Q	NM_032946.2	NP_116564.2	Q9H1B4	NXF5_HUMAN	nuclear RNA export factor 5	319	NTF2; truncated.				mRNA export from nucleus|multicellular organismal development	actin cytoskeleton|cytoplasm|nucleus	nucleocytoplasmic transporter activity|nucleotide binding|protein binding|RNA binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|skin(1)	30						CACGTTTCGTGGACATTTTGT	0.532000													32	70					1.06801e-11	1.51966e-11	0.009535	1	0
ARID1A	8289	broad.mit.edu	37	1	27087527	27087527	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:27087527G>T	ENST00000324856.7	+	5	2472	c.2101G>T	c.(2101-2103)Ggc>Tgc	p.G701C	ARID1A_ENST00000457599.2_Missense_Mutation_p.G701C|ARID1A_ENST00000374152.2_Missense_Mutation_p.G318C	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	701					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GTCCCCTGTTGGCTCTCCCGC	0.607000			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								23	33					1.64293e-13	2.46945e-13	0.003330	1	0
SH2B1	25970	broad.mit.edu	37	16	28880417	28880417	+	Splice_Site	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr16:28880417G>T	ENST00000337120.5	+	3	4423	c.1133_splice	c.e3+1	p.G378_splice	SH2B1_ENST00000545570.1_Splice_Site_p.G68_splice|SH2B1_ENST00000359285.5_Splice_Site_p.G378_splice|SH2B1_ENST00000322610.8_Splice_Site_p.G378_splice|SH2B1_ENST00000395532.4_Splice_Site_p.G378_splice|SH2B1_ENST00000563674.1_Intron|SH2B1_ENST00000538342.1_Splice_Site_p.G42_splice	NM_001145812.1|NM_015503.2	NP_001139284.1|NP_056318.2	Q9NRF2	SH2B1_HUMAN	SH2B adaptor protein 1	378	Interaction with JAK2 (low-affinity binding; independent of JAK2 phosphorylation) (By similarity).				blood coagulation|intracellular signal transduction	cytosol|membrane|nucleus	signal transducer activity	p.G378*(2)		endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						CCTGAGCCCAGGGTGAGAAGC	0.562000													32	31					1.39806e-14	2.16802e-14	0.008361	1	0
DZIP3	9666	broad.mit.edu	37	3	108392970	108392970	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr3:108392970G>T	ENST00000361582.3	+	24	2865	c.2635G>T	c.(2635-2637)Gag>Tag	p.E879*	DZIP3_ENST00000463306.1_Nonsense_Mutation_p.E879*	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN	DAZ interacting zinc finger protein 3	879					protein polyubiquitination	cytoplasm	polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						GCTTCATCTAGAGCAGACTGA	0.408000													72	59					5.42381e-49	1.05948e-48	0.003610	1	0
SF3A1	10291	broad.mit.edu	37	22	30738840	30738840	+	Nonsense_Mutation	SNP	G	G	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr22:30738840G>C	ENST00000439242.1	-	5	616	c.485C>G	c.(484-486)tCa>tGa	p.S162*	SF3A1_ENST00000215793.7_Nonsense_Mutation_p.S227*	NM_001005409.1	NP_001005409.1	Q15459	SF3A1_HUMAN	splicing factor 3a, subunit 1, 120kDa	227					nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|nucleoplasm|U2-type spliceosomal complex	protein binding|RNA binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|urinary_tract(1)	29						CTTGAGCTTTGAAAATAAACC	0.423000													9	62					0	0	0.000978	0	0
ARHGAP6	395	broad.mit.edu	37	X	11207050	11207050	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chrX:11207050C>A	ENST00000337414.4	-	4	1747	c.875G>T	c.(874-876)aGg>aTg	p.R292M	ARHGAP6_ENST00000380718.1_Missense_Mutation_p.R292M|ARHGAP6_ENST00000534860.1_Missense_Mutation_p.R117M|ARHGAP6_ENST00000380732.3_Missense_Mutation_p.R324M|ARHGAP6_ENST00000380736.1_Missense_Mutation_p.R89M|ARHGAP6_ENST00000413512.3_Missense_Mutation_p.R101M|ARHGAP6_ENST00000303025.6_Missense_Mutation_p.R89M	NM_013427.2	NP_038286.2	O43182	RHG06_HUMAN	Rho GTPase activating protein 6	292					actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly|Rho protein signal transduction	actin filament|cytosol	phospholipase activator activity|phospholipase binding|Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						TTTATAGGCCCTGTCATTCGC	0.443000													18	39					6.49762e-13	9.51298e-13	0.006122	1	0
GPR101	83550	broad.mit.edu	37	X	136112472	136112472	+	Nonsense_Mutation	SNP	A	A	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chrX:136112472A>T	ENST00000298110.1	-	1	1361	c.1362T>A	c.(1360-1362)taT>taA	p.Y454*		NM_054021.1	NP_473362.1	Q96P66	GP101_HUMAN	G protein-coupled receptor 101	454						integral to membrane|plasma membrane	G-protein coupled receptor activity			autonomic_ganglia(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(18)|ovary(3)|skin(1)|urinary_tract(1)	42	Acute lymphoblastic leukemia(192;0.000127)					GCATGTAGCCATAGACATAGG	0.512000													31	52					0	0	0.002836	0	0
DHX37	57647	broad.mit.edu	37	12	125473463	125473463	+	Splice_Site	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr12:125473463C>A	ENST00000308736.2	-	1	204	c.106_splice	c.e1+1	p.D36_splice		NM_032656.3	NP_116045.2	Q8IY37	DHX37_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 37	36							ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3)	65	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)		GATGTCTTACCCTCCAGTTCC	0.701000													9	23					1.76689e-08	2.26775e-08	0.006214	1	0
TOX2	84969	broad.mit.edu	37	20	42679966	42679966	+	Silent	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr20:42679966G>T	ENST00000358131.5	+	4	667	c.459G>T	c.(457-459)tcG>tcT	p.S153S	TOX2_ENST00000372999.1_Silent_p.S102S|TOX2_ENST00000423191.1_Silent_p.S102S|TOX2_ENST00000435864.2_Silent_p.S22S|TOX2_ENST00000341197.3_Silent_p.S144S	NM_001098798.1	NP_001092268.1	Q96NM4	TOX2_HUMAN	TOX high mobility group box family member 2	153					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.S153S(1)|p.S102S(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)			TGGTCCACTCGGAAGTGGCTG	0.612000													44	14					4.67007e-22	8.3143e-22	0.008740	1	0
EYS	346007	broad.mit.edu	37	6	66063351	66063351	+	Splice_Site	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr6:66063351C>A	ENST00000503581.1	-	9	1996	c.1459_splice	c.e9+1	p.G487_splice	EYS_ENST00000370618.3_Splice_Site_p.G487_splice|EYS_ENST00000342421.5_Splice_Site_p.G487_splice|EYS_ENST00000393380.2_Splice_Site_p.G487_splice|EYS_ENST00000370616.2_Splice_Site_p.G487_splice|EYS_ENST00000370621.3_Splice_Site_p.G487_splice	NM_001142800.1	NP_001136272.1	Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	487					response to stimulus|visual perception	extracellular region	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						AATTTGTTACCTGCAAATCCC	0.333000													10	51					2.17888e-05	2.4933e-05	0.006214	1	0
TOPBP1	11073	broad.mit.edu	37	3	133368263	133368263	+	Silent	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr3:133368263G>A	ENST00000260810.5	-	10	1599	c.1468C>T	c.(1468-1470)Ctg>Ttg	p.L490L	TOPBP1_ENST00000511439.1_5'UTR	NM_007027.3	NP_008958.2	Q92547	TOPB1_HUMAN	topoisomerase (DNA) II binding protein 1	490					DNA repair|response to ionizing radiation	microtubule organizing center|PML body|spindle pole	DNA binding|protein C-terminus binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	40						TGAGAGAGCAGATCTTCATCA	0.353000								Other conserved DNA damage response genes					13	46					0	0	0.002450	0	0
FAM217B	63939	broad.mit.edu	37	20	58519167	58519167	+	Missense_Mutation	SNP	A	A	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr20:58519167A>G	ENST00000358293.3	+	5	584	c.169A>G	c.(169-171)Aga>Gga	p.R57G	FAM217B_ENST00000469084.1_Intron|FAM217B_ENST00000360816.3_Missense_Mutation_p.R57G	NM_001190826.1	NP_001177755.1	Q9NTX9	CT177_HUMAN	family with sequence similarity 217, member B	57																	CCCGGAAGCAAGACGCAAAAG	0.468000													27	62					0	0	0.007291	0	0
GRIA3	2892	broad.mit.edu	37	X	122387172	122387172	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chrX:122387172G>T	ENST00000264357.5	+	3	579	c.287G>T	c.(286-288)aGa>aTa	p.R96I	GRIA3_ENST00000542149.1_Missense_Mutation_p.R96I|GRIA3_ENST00000371256.5_Missense_Mutation_p.R96I|GRIA3_ENST00000479118.1_3'UTR|GRIA3_ENST00000541091.1_Missense_Mutation_p.R80I|GRIA3_ENST00000371251.1_Missense_Mutation_p.R96I	NM_000828.4	NP_000819.3	P42263	GRIA3_HUMAN	glutamate receptor, ionotropic, AMPA 3	96					glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					L-Glutamic Acid(DB00142)	CAGTTCTCGAGAGGGGTGTAT	0.458000													24	76					2.79863e-10	3.80853e-10	0.004656	1	0
C18orf25	147339	broad.mit.edu	37	18	43796201	43796201	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr18:43796201C>G	ENST00000282059.6	+	2	729	c.355C>G	c.(355-357)Cag>Gag	p.Q119E	C18orf25_ENST00000321319.6_Missense_Mutation_p.Q119E	NM_145055.3	NP_659492.1	Q96B23	CR025_HUMAN	chromosome 18 open reading frame 25	119										central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)	11						TGAACCCTCTCAGGCAGAAAC	0.522000													35	59					0	0	0.004878	0	0
UQCRC1	7384	broad.mit.edu	37	3	48637544	48637544	+	Silent	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr3:48637544C>T	ENST00000203407.5	-	11	1670	c.1254G>A	c.(1252-1254)ctG>ctA	p.L418L		NM_003365.2	NP_003356.2	P31930	QCR1_HUMAN	ubiquinol-cytochrome c reductase core protein I	418					aerobic respiration|proteolysis		metalloendopeptidase activity|ubiquinol-cytochrome-c reductase activity|zinc ion binding			breast(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)	Atovaquone(DB01117)	GGCCATAGGTCAGGAGGCTGC	0.602000													7	33					0	0	0.006214	0	0
AGMO	392636	broad.mit.edu	37	7	15470662	15470662	+	Nonsense_Mutation	SNP	T	T	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr7:15470662T>A	ENST00000342526.3	-	4	650	c.481A>T	c.(481-483)Aga>Tga	p.R161*		NM_001004320.1	NP_001004320.1	Q6ZNB7	ALKMO_HUMAN	alkylglycerol monooxygenase	161					ether lipid metabolic process|fatty acid biosynthetic process|membrane lipid metabolic process	endoplasmic reticulum membrane|integral to membrane	glyceryl-ether monooxygenase activity|iron ion binding			breast(1)|kidney(1)|large_intestine(6)|liver(1)|lung(30)|prostate(1)|skin(2)	42						ACAGACTGTCTCAGTGCTGTG	0.358000													10	59					0	0	0.008291	0	0
GRSF1	2926	broad.mit.edu	37	4	71698153	71698153	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr4:71698153T>A	ENST00000254799.6	-	4	802	c.685A>T	c.(685-687)Aat>Tat	p.N229Y	GRSF1_ENST00000545193.1_Missense_Mutation_p.N111Y|GRSF1_ENST00000439371.1_Missense_Mutation_p.N67Y|GRSF1_ENST00000502323.1_Missense_Mutation_p.N67Y|GRSF1_ENST00000508091.1_Intron	NM_002092.3	NP_002083.3	Q12849	GRSF1_HUMAN	G-rich RNA sequence binding factor 1	229	RRM 1.				mRNA polyadenylation		mRNA binding|nucleotide binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|upper_aerodigestive_tract(2)	17		all_hematologic(202;0.21)	Lung(101;0.235)			ACATCTTCATTGTTTATCTCA	0.368000													3	24					0	0	0.004672	0	0
TECRL	253017	broad.mit.edu	37	4	65275040	65275040	+	Silent	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr4:65275040C>T	ENST00000381210.3	-	1	140	c.30G>A	c.(28-30)tcG>tcA	p.S10S	TECRL_ENST00000507440.1_Silent_p.S10S	NM_001010874.4	NP_001010874.2	Q5HYJ1	TECRL_HUMAN	trans-2,3-enoyl-CoA reductase-like	10					lipid metabolic process	cytoplasm|integral to membrane	oxidoreductase activity, acting on the CH-CH group of donors			endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1)	47						TCTTGCGTTCCGAAGCGAGGG	0.413000													27	61					0	0	0.009535	0	0
SORCS1	114815	broad.mit.edu	37	10	108427524	108427524	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr10:108427524G>T	ENST00000263054.6	-	17	2233	c.2226C>A	c.(2224-2226)tgC>tgA	p.C742*	SORCS1_ENST00000369698.1_Nonsense_Mutation_p.C277*|SORCS1_ENST00000344440.6_Nonsense_Mutation_p.C742*	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	742						integral to membrane	neuropeptide receptor activity|protein binding	p.C742*(1)		breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		ATGCCGGCAGGCACTGGCCAT	0.458000													8	18					0.00621372	0.00653442	0.006214	1	0
GLUD2	2747	broad.mit.edu	37	X	120181692	120181692	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chrX:120181692C>A	ENST00000328078.1	+	1	231	c.154C>A	c.(154-156)Cac>Aac	p.H52N		NM_012084.3	NP_036216.2	P49448	DHE4_HUMAN	glutamate dehydrogenase 2	52					glutamate biosynthetic process|glutamate catabolic process	mitochondrial matrix	ADP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|leucine binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|urinary_tract(1)	38					L-Glutamic Acid(DB00142)|NADH(DB00157)	CGCCCGGCGCCACTACAGCGA	0.716000													19	26					3.62473e-10	4.91904e-10	0.001882	1	0
IRGC	56269	broad.mit.edu	37	19	44223494	44223494	+	Missense_Mutation	SNP	A	A	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr19:44223494A>G	ENST00000244314.5	+	2	983	c.784A>G	c.(784-786)Atg>Gtg	p.M262V		NM_019612.3	NP_062558.1	Q6NXR0	IIGP5_HUMAN	immunity-related GTPase family, cinema	262						membrane	GTP binding|hydrolase activity, acting on acid anhydrides			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(2)	25		Prostate(69;0.0435)				GAAGAAGGCCATGCTTCAAGA	0.662000													10	18					0	0	0.006214	0	0
GRM3	2913	broad.mit.edu	37	7	86394822	86394822	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr7:86394822G>T	ENST00000361669.2	+	2	1460	c.361G>T	c.(361-363)Gat>Tat	p.D121Y	GRM3_ENST00000546348.1_Intron|GRM3_ENST00000439827.1_Missense_Mutation_p.D121Y|GRM3_ENST00000536043.1_Intron|GRM3_ENST00000394720.2_Missense_Mutation_p.D119Y	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	121					synaptic transmission	integral to plasma membrane				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	GACAAAAGTGGATGAAGCTGA	0.438000													76	211					1.63007e-36	3.14647e-36	0.003610	1	0
PRSS22	64063	broad.mit.edu	37	16	2906129	2906129	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr16:2906129G>C	ENST00000161006.3	-	3	300	c.235C>G	c.(235-237)Ctg>Gtg	p.L79V	PRSS22_ENST00000574768.1_Intron|PRSS22_ENST00000571228.1_Intron	NM_022119.3	NP_071402.1	Q9GZN4	BSSP4_HUMAN	protease, serine, 22	79	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|skin(2)	10						CTGGTGAGCAGAGAACCTGCG	0.612000													8	28					0	0	0.006214	0	0
NT5E	4907	broad.mit.edu	37	6	86203677	86203677	+	Missense_Mutation	SNP	A	A	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr6:86203677A>C	ENST00000257770.3	+	9	1729	c.1680A>C	c.(1678-1680)ttA>ttC	p.L560F	NT5E_ENST00000369651.3_Missense_Mutation_p.L510F	NM_002526.3	NP_002517.1	P21589	5NTD_HUMAN	5'-nucleotidase, ecto (CD73)	560					DNA metabolic process|purine base metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	anchored to membrane|cytoplasm|membrane fraction|plasma membrane	5'-nucleotidase activity|nucleotide binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(76;0.000215)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0427)		BRCA - Breast invasive adenocarcinoma(108;0.0417)	Pentoxifylline(DB00806)	GCTTTTCTTTAATATTTCTTT	0.353000													12	25					0	0	0.001855	0	0
ATP10D	57205	broad.mit.edu	37	4	47517562	47517562	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr4:47517562G>T	ENST00000273859.3	+	3	629	c.360G>T	c.(358-360)aaG>aaT	p.K120N	ATP10D_ENST00000504445.1_Missense_Mutation_p.K120N	NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	120					ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						CCTTCCAAAAGGAAATCACCA	0.413000													23	64					5.35356e-11	7.4513e-11	0.002780	1	0
DUSP27	92235	broad.mit.edu	37	1	167097504	167097504	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:167097504C>A	ENST00000361200.2	+	6	3302	c.3136C>A	c.(3136-3138)Cca>Aca	p.P1046T	DUSP27_ENST00000271385.5_Missense_Mutation_p.P1046T|DUSP27_ENST00000443333.1_Missense_Mutation_p.P1046T|DUSP27_ENST00000485151.1_Intron			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	1046					protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						CCGCCGGACCCCAGAGTCCTC	0.577000													13	26					1.5842e-08	2.0476e-08	0.001855	1	0
SPAG5	10615	broad.mit.edu	37	17	26907094	26907094	+	Silent	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr17:26907094G>T	ENST00000321765.5	-	16	3062	c.2730C>A	c.(2728-2730)acC>acA	p.T910T		NM_006461.3	NP_006452.3	Q96R06	SPAG5_HUMAN	sperm associated antigen 5	910					cell division|mitosis|phosphatidylinositol-mediated signaling|spindle organization	condensed chromosome kinetochore|cytoplasm|spindle pole	protein binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43	Lung NSC(42;0.00431)					GGTGTTCCTGGGTGGGAGGAC	0.517000													20	35					4.47668e-21	7.89337e-21	0.003954	1	0
POLR1B	84172	broad.mit.edu	37	2	113309351	113309351	+	Splice_Site	SNP	G	G	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr2:113309351G>C	ENST00000263331.5	+	6	1342		c.e6-1		POLR1B_ENST00000417433.2_Splice_Site|POLR1B_ENST00000409894.3_Splice_Site|POLR1B_ENST00000537335.1_Splice_Site|POLR1B_ENST00000541869.1_Splice_Site	NM_019014.4	NP_061887.2	Q9H9Y6	RPA2_HUMAN	polymerase (RNA) I polypeptide B, 128kDa						termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding			breast(3)|endometrium(9)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42						TTCTATTCTAGGCACTTGTCA	0.308000													26	36					0	0	0.004656	0	0
ZNF521	25925	broad.mit.edu	37	18	22807555	22807555	+	Translation_Start_Site	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr18:22807555C>A	ENST00000584787.1	-	0	430				ZNF521_ENST00000538137.2_Missense_Mutation_p.E109D|ZNF521_ENST00000361524.3_Missense_Mutation_p.E109D			Q96K83	ZN521_HUMAN	zinc finger protein 521						cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					CACCTTCTTCCTCTCCAAAAT	0.517000			T	PAX5	ALL								48	39					1.81118e-26	3.38472e-26	0.003610	1	0
HECTD4	283450	broad.mit.edu	37	12	112702999	112702999	+	Missense_Mutation	SNP	T	T	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr12:112702999T>G	ENST00000550722.1	-	16	2562	c.2167A>C	c.(2167-2169)Aag>Cag	p.K723Q	HECTD4_ENST00000430131.2_Missense_Mutation_p.K435Q|HECTD4_ENST00000377560.5_Missense_Mutation_p.K685Q	NM_001109662.3	NP_001103132.3			HECT domain containing E3 ubiquitin protein ligase 4																		GAAAGGAGCTTTTGAAAATCA	0.323000													24	41					0	0	0.004656	0	0
JMJD1C	221037	broad.mit.edu	37	10	64967354	64967354	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr10:64967354C>A	ENST00000399262.2	-	10	4293	c.4075G>T	c.(4075-4077)Gtg>Ttg	p.V1359L	JMJD1C_ENST00000542921.1_Missense_Mutation_p.V1177L|JMJD1C_ENST00000402544.1_Missense_Mutation_p.V1140L|JMJD1C_ENST00000399251.1_Missense_Mutation_p.V1140L	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	1359					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					TCTGAATTCACATTTGGCAAA	0.418000													24	82					1.10513e-12	1.61316e-12	0.002299	1	0
SLITRK1	114798	broad.mit.edu	37	13	84455420	84455420	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr13:84455420G>C	ENST00000377084.2	-	1	1108	c.223C>G	c.(223-225)Cct>Gct	p.P75A		NM_052910.1	NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	75						integral to membrane				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		AACTCATTAGGGAAAAGTCGA	0.463000													32	27					0	0	0.002096	0	0
CDKL5	6792	broad.mit.edu	37	X	18646665	18646665	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chrX:18646665C>A	ENST00000379989.3	+	19	2956	c.2671C>A	c.(2671-2673)Cag>Aag	p.Q891K	CDKL5_ENST00000379996.3_Missense_Mutation_p.Q891K	NM_001037343.1	NP_001032420.1	O76039	CDKL5_HUMAN	cyclin-dependent kinase-like 5	891					neuron migration|positive regulation of axon extension|positive regulation of dendrite morphogenesis|positive regulation of Rac GTPase activity|protein autophosphorylation	dendrite cytoplasm|dendritic growth cone|nucleus	ATP binding|cyclin-dependent protein kinase activity|Rac GTPase binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1)	44	Hepatocellular(33;0.183)					CAACATCCGGCAGGAACCCGC	0.602000													30	65					7.01153e-11	9.72204e-11	0.007291	1	0
OR5M11	219487	broad.mit.edu	37	11	56310441	56310441	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr11:56310441G>T	ENST00000528616.2	-	1	316	c.293C>A	c.(292-294)aCa>aAa	p.T98K		NM_001005245.1	NP_001005245.1	Q96RB7	OR5MB_HUMAN	olfactory receptor, family 5, subfamily M, member 11	98					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)	18						GTAGCACTGTGTAAAGCAACC	0.448000													9	21					0.000442599	0.000484186	0.006214	1	0
KIAA1467	57613	broad.mit.edu	37	12	13208570	13208570	+	Silent	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr12:13208570G>A	ENST00000197268.8	+	2	243	c.123G>A	c.(121-123)ctG>ctA	p.L41L		NM_020853.1	NP_065904.1	A2RU67	K1467_HUMAN	KIAA1467	41						integral to membrane				NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(4)	36		Prostate(47;0.184)		BRCA - Breast invasive adenocarcinoma(232;0.157)		TGCTTAACCTGCAGAAGAATG	0.507000													20	50					0	0	0.008871	0	0
C10orf76	79591	broad.mit.edu	37	10	103773745	103773745	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr10:103773745C>G	ENST00000370033.4	-	9	825	c.706G>C	c.(706-708)Gat>Cat	p.D236H		NM_024541.2	NP_078817.2	Q5T2E6	CJ076_HUMAN	chromosome 10 open reading frame 76	236						integral to membrane				autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|upper_aerodigestive_tract(2)	24		Colorectal(252;0.123)		Epithelial(162;2.41e-08)|all cancers(201;6.41e-07)		GCCTCATCATCCACGATAGAC	0.378000													31	47					0	0	0.002445	0	0
HOXA13	3209	broad.mit.edu	37	7	27238774	27238774	+	Splice_Site	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr7:27238774C>A	ENST00000222753.4	-	1	951		c.e1+1		HOTTIP_ENST00000421733.1_RNA	NM_000522.4	NP_000513.2	P31271	HXA13_HUMAN	homeobox A13						skeletal system development	nucleus	sequence-specific DNA binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	6						TCGTCATTTACCGGGCAGAGT	0.632000			T	NUP98	AML								19	11					8.34094e-07	1.00132e-06	0.008871	1	0
CCDC120	90060	broad.mit.edu	37	X	48923039	48923039	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chrX:48923039G>T	ENST00000376396.3	+	8	956	c.737G>T	c.(736-738)tGg>tTg	p.W246L	CCDC120_ENST00000496529.2_Missense_Mutation_p.W246L|CCDC120_ENST00000597275.1_Missense_Mutation_p.W246L|CCDC120_ENST00000603986.1_Missense_Mutation_p.W281L|CCDC120_ENST00000536628.2_Missense_Mutation_p.W234L|CCDC120_ENST00000422185.2_Missense_Mutation_p.W246L	NM_001271835.1|NM_001271836.1|NM_033626.2	NP_001258764.1|NP_001258765.1|NP_296375.1	Q96HB5	CC120_HUMAN	coiled-coil domain containing 120	246							protein binding			breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	14						CCCAAGGCTTGGGACCAGCTG	0.617000													10	26					2.17888e-05	2.4933e-05	0.006214	1	0
PTBP2	58155	broad.mit.edu	37	1	97243152	97243152	+	Silent	SNP	A	A	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:97243152A>G	ENST00000236228.6	+	6	526	c.444A>G	c.(442-444)gcA>gcG	p.A148A	PTBP2_ENST00000541987.1_Silent_p.A117A|PTBP2_ENST00000394184.3_Silent_p.A159A|PTBP2_ENST00000426398.2_Silent_p.A148A|PTBP2_ENST00000482253.1_3'UTR|PTBP2_ENST00000370198.1_Silent_p.A148A|PTBP2_ENST00000370197.1_Silent_p.A148A	NM_021190.2	NP_067013.1	Q9UKA9	PTBP2_HUMAN	polypyrimidine tract binding protein 2	148							nucleotide binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|skin(1)	26		all_epithelial(167;2.95e-05)|all_lung(203;0.000396)|Lung NSC(277;0.00171)		all cancers(265;0.0582)|Epithelial(280;0.0716)|Colorectal(170;0.0879)|KIRC - Kidney renal clear cell carcinoma(1967;0.202)		GTGCTCAGGCAGTTCTTCAAG	0.438000													16	21					0	0	0.006122	0	0
ZFHX4	79776	broad.mit.edu	37	8	77768454	77768454	+	Silent	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr8:77768454C>A	ENST00000521891.2	+	10	9745	c.9297C>A	c.(9295-9297)ccC>ccA	p.P3099P	ZFHX4_ENST00000455469.2_Silent_p.P3054P|ZFHX4_ENST00000518282.1_Silent_p.P3073P|ZFHX4_ENST00000050961.6_Silent_p.P3054P	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	3054	Pro-rich.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CAGCCTACCCCGGACTCCCCG	0.542000										HNSCC(33;0.089)			20	41					3.51602e-12	5.0918e-12	0.008871	1	0
LTBP1	4052	broad.mit.edu	37	2	33518259	33518259	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr2:33518259G>T	ENST00000404816.2	+	20	3498	c.3145G>T	c.(3145-3147)Gca>Tca	p.A1049S	LTBP1_ENST00000402934.1_Missense_Mutation_p.A670S|LTBP1_ENST00000390003.4_Missense_Mutation_p.A724S|LTBP1_ENST00000354476.3_Missense_Mutation_p.A1050S|LTBP1_ENST00000407925.1_Missense_Mutation_p.A723S|LTBP1_ENST00000498013.1_3'UTR|LTBP1_ENST00000404525.1_Missense_Mutation_p.A670S|LTBP1_ENST00000272273.5_5'UTR|LTBP1_ENST00000418533.2_Missense_Mutation_p.A723S			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	1049	EGF-like 8; calcium-binding (Potential).				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				AAACGTCTGCGCAAATGGTGA	0.423000													14	21					0.00244969	0.00261741	0.002450	1	0
DUSP5	1847	broad.mit.edu	37	10	112269834	112269834	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr10:112269834C>T	ENST00000369583.3	+	4	1089	c.805C>T	c.(805-807)Cgt>Tgt	p.R269C	DUSP5_ENST00000468749.1_3'UTR	NM_004419.3	NP_004410.3	Q16690	DUS5_HUMAN	dual specificity phosphatase 5	269	Tyrosine-protein phosphatase.				endoderm formation|inactivation of MAPK activity	nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			kidney(2)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	13		Breast(234;0.0848)		Epithelial(162;0.000276)|all cancers(201;0.00465)|BRCA - Breast invasive adenocarcinoma(275;0.12)		TGGGATCTCCCGTTCACCCAC	0.537000													9	38					0	0	0.004482	0	0
WBP11P1	441818	broad.mit.edu	37	18	30093118	30093118	+	RNA	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr18:30093118G>T	ENST00000567636.1	+	0	1493					NR_003558.1																						CCTTTACCCTGACTTTTACCT	0.607000													3	10					6.4e-05	7.20711e-05	0.004672	1	0
RP1L1	94137	broad.mit.edu	37	8	10464791	10464791	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr8:10464791G>T	ENST00000382483.3	-	4	7040	c.6817C>A	c.(6817-6819)Cct>Act	p.P2273T		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	2273					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		CTGTCCTCAGGGACTGGGCTG	0.587000													53	59					4.96213e-28	9.32068e-28	0.003610	1	0
MEOX2	4223	broad.mit.edu	37	7	15725581	15725581	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr7:15725581G>T	ENST00000262041.5	-	1	856	c.447C>A	c.(445-447)taC>taA	p.Y149*		NM_005924.4	NP_005915.2	P50222	MEOX2_HUMAN	mesenchyme homeobox 2	149					blood circulation|multicellular organismal development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24				UCEC - Uterine corpus endometrioid carcinoma (126;0.0822)		CCTGGCGGCCGTAGTCCCCCG	0.706000													51	38					4.86159e-25	8.98232e-25	0.003610	1	0
XIRP2	129446	broad.mit.edu	37	2	168105807	168105807	+	Missense_Mutation	SNP	A	A	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr2:168105807A>C	ENST00000409195.1	+	9	7994	c.7905A>C	c.(7903-7905)gaA>gaC	p.E2635D	XIRP2_ENST00000409273.1_Missense_Mutation_p.E2413D|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.E2635D|XIRP2_ENST00000420519.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2460					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						CATCGCCAGAAACAGTCGCTG	0.443000													22	65					0	0	0.002780	0	0
HNF4A	3172	broad.mit.edu	37	20	43058302	43058302	+	Silent	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr20:43058302C>A	ENST00000316099.3	+	10	1511	c.1422C>A	c.(1420-1422)atC>atA	p.I474I	HNF4A_ENST00000457232.1_Silent_p.I442I|HNF4A_ENST00000415691.1_Silent_p.I464I	NM_000457.4|NM_001258355.1	NP_000448.3|NP_001245284.1	P41235	HNF4A_HUMAN	hepatocyte nuclear factor 4, alpha	474					blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process	cytoplasm	activating transcription factor binding|protein homodimerization activity|receptor binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	34		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			AGGAAGTTATCTAGCAAGCCG	0.627000													25	109					2.41591e-17	3.95993e-17	0.004656	1	0
SLC6A1	6529	broad.mit.edu	37	3	11070434	11070434	+	Silent	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr3:11070434G>A	ENST00000287766.4	+	11	1513	c.1092G>A	c.(1090-1092)gcG>gcA	p.A364A	SLC6A1_ENST00000536032.1_Silent_p.A186A	NM_003042.3	NP_003033.3	P30531	SC6A1_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 1	364					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	26		Ovarian(110;0.0392)		OV - Ovarian serous cystadenocarcinoma(96;0.00099)	Cocaine(DB00907)|Tiagabine(DB00906)	CCGGGCTGGCGTTCCTGGCAT	0.532000													9	18					0	0	0.006214	0	0
TRHDE	29953	broad.mit.edu	37	12	72771835	72771835	+	Missense_Mutation	SNP	A	A	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr12:72771835A>G	ENST00000261180.4	+	3	1210	c.1114A>G	c.(1114-1116)Ata>Gta	p.I372V		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	372					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						TGCTCTCCATATAACAAAGAG	0.328000													29	46					0	0	0.009535	0	0
SERPINA9	327657	broad.mit.edu	37	14	94931119	94931119	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr14:94931119C>T	ENST00000337425.5	-	4	1103	c.1029G>A	c.(1027-1029)atG>atA	p.M343I	SERPINA9_ENST00000380365.3_Missense_Mutation_p.M325I|SERPINA9_ENST00000448305.2_Missense_Mutation_p.M245I|SERPINA9_ENST00000424550.2_Missense_Mutation_p.M194I|SERPINA9_ENST00000546329.1_Missense_Mutation_p.M307I|SERPINA9_ENST00000298845.7_Missense_Mutation_p.M243I	NM_175739.3	NP_783866.2	Q86WD7	SPA9_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9	325					regulation of proteolysis	cytoplasm|extracellular region|membrane	serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(17)	21		all_cancers(154;0.0691)|all_epithelial(191;0.233)		Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24)		TTTGGATGCCCATCTTCGGGA	0.413000													11	36					0	0	0.001368	0	0
LTBP2	4053	broad.mit.edu	37	14	75019645	75019645	+	Missense_Mutation	SNP	A	A	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr14:75019645A>C	ENST00000261978.4	-	5	1528	c.1142T>G	c.(1141-1143)cTg>cGg	p.L381R	LTBP2_ENST00000556690.1_Missense_Mutation_p.L381R|CTD-2207P18.1_ENST00000554552.1_lincRNA|LTBP2_ENST00000557425.1_Intron	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	381					protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		CTGGCTGTACAGGGTGGTGGT	0.592000													8	15					0	0	0.003080	0	0
LAS1L	81887	broad.mit.edu	37	X	64738059	64738059	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chrX:64738059C>A	ENST00000374811.3	-	12	1775	c.1735G>T	c.(1735-1737)Gta>Tta	p.V579L	LAS1L_ENST00000374804.5_Missense_Mutation_p.V520L|LAS1L_ENST00000374807.5_Missense_Mutation_p.V562L|LAS1L_ENST00000312391.8_3'UTR	NM_031206.4	NP_112483.1	Q9Y4W2	LAS1L_HUMAN	LAS1-like (S. cerevisiae)	579						MLL1 complex|nucleolus	protein binding			breast(4)|endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	33						tcctcctcTACCTGGTCTGGC	0.507000													26	49					3.73148e-12	5.38787e-12	0.007291	1	0
TTN	7273	broad.mit.edu	37	2	179474015	179474015	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr2:179474015C>A	ENST00000589042.1	-	273	52246	c.52022G>T	c.(52021-52023)cGa>cTa	p.R17341L	TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R8276L|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R8468L|TTN_ENST00000591111.1_Missense_Mutation_p.R15700L|TTN_ENST00000342992.6_Missense_Mutation_p.R14773L|TTN_ENST00000359218.5_Missense_Mutation_p.R8401L|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000589487.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	15700	Fibronectin type-III 25.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATGGTCAGGTCGGAGAGAATC	0.438000													21	22					8.34094e-07	1.00132e-06	0.008871	1	0
HEATR5B	54497	broad.mit.edu	37	2	37283695	37283695	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr2:37283695G>A	ENST00000233099.5	-	16	2382	c.2287C>T	c.(2287-2289)Cgc>Tgc	p.R763C	HEATR5B_ENST00000354531.2_Missense_Mutation_p.R763C	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	763							binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				GCAGGTATGCGTAAATAAATA	0.463000													13	112					0	0	0.001368	0	0
COQ10B	80219	broad.mit.edu	37	2	198324753	198324753	+	Missense_Mutation	SNP	A	A	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr2:198324753A>G	ENST00000263960.2	+	2	340	c.202A>G	c.(202-204)Act>Gct	p.T68A	COQ10B_ENST00000545340.1_Missense_Mutation_p.T25A|COQ10B_ENST00000409398.1_Intron|COQ10B_ENST00000409010.1_Missense_Mutation_p.T40A	NM_025147.3	NP_079423.1	Q9H8M1	CQ10B_HUMAN	coenzyme Q10 homolog B (S. cerevisiae)	68						mitochondrial inner membrane				endometrium(1)|large_intestine(2)|lung(3)	6			Epithelial(96;0.231)|OV - Ovarian serous cystadenocarcinoma(117;0.246)			CTTCAAAATCACTGCACCATT	0.343000													9	42					0	0	0.004482	0	0
AGO1	26523	broad.mit.edu	37	1	36354197	36354197	+	Silent	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:36354197C>T	ENST00000373204.4	+	2	408	c.195C>T	c.(193-195)ccC>ccT	p.P65P	AGO1_ENST00000373206.1_5'UTR	NM_012199.2	NP_036331.1			argonaute RISC catalytic component 1																		ATAAGTGTCCCCGTAGAGTCA	0.488000													13	34					0	0	0.001368	0	0
RAB39B	116442	broad.mit.edu	37	X	154493454	154493454	+	Silent	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chrX:154493454G>T	ENST00000369454.3	-	1	420	c.120C>A	c.(118-120)acC>acA	p.T40T		NM_171998.2	NP_741995.1	Q96DA2	RB39B_HUMAN	RAB39B, member RAS oncogene family	40					protein transport|small GTPase mediated signal transduction|synapse organization|vesicle-mediated transport	Golgi apparatus|plasma membrane	GTP binding			breast(1)|central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(12)	19	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					CCACCCCCACGGTGGGGTCAG	0.592000													29	53					8.58068e-18	1.42558e-17	0.007291	1	0
NKPD1	284353	broad.mit.edu	37	19	45655644	45655644	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr19:45655644G>T	ENST00000317951.4	-	4	2050	c.2051C>A	c.(2050-2052)cCc>cAc	p.P684H	NKPD1_ENST00000429338.1_Missense_Mutation_p.P462H|NKPD1_ENST00000438936.2_Missense_Mutation_p.P462H|NKPD1_ENST00000589776.1_Missense_Mutation_p.P462H	NM_198478.3	NP_940880.3			NTPase, KAP family P-loop domain containing 1											endometrium(1)|lung(4)|prostate(2)|urinary_tract(1)	8		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00863)|GBM - Glioblastoma multiforme(486;0.231)		gcggccctcgggcgcgccccc	0.726000													7	2					0.00307968	0.00327858	0.003080	1	0
ABCG8	64241	broad.mit.edu	37	2	44079825	44079825	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr2:44079825G>T	ENST00000272286.2	+	6	872	c.782G>T	c.(781-783)gGc>gTc	p.G261V		NM_022437.2	NP_071882.1	Q9H221	ABCG8_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 8	261	ABC transporter.				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				CTGGCCAAAGGCAACCGGCTG	0.562000													34	25					3.67414e-24	6.72065e-24	0.002445	1	0
GATA4	2626	broad.mit.edu	37	8	11615981	11615981	+	Silent	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr8:11615981G>T	ENST00000335135.4	+	7	1884	c.1326G>T	c.(1324-1326)gcG>gcT	p.A442A	GATA4_ENST00000528712.1_Silent_p.A236A|GATA4_ENST00000532059.1_Silent_p.A443A	NM_002052.3	NP_002043.2	P43694	GATA4_HUMAN	GATA binding protein 4	442					atrial septum primum morphogenesis|atrial septum secundum morphogenesis|blood coagulation|cardiac right ventricle morphogenesis|cell-cell signaling|embryonic foregut morphogenesis|embryonic heart tube anterior/posterior pattern formation|endocardial cushion development|endoderm development|heart looping|intestinal epithelial cell differentiation|male gonad development|positive regulation of angiogenesis|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation vascular endothelial growth factor production|response to drug|transcription from RNA polymerase II promoter|ventricular septum development	nucleoplasm	activating transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(10)	13	all_epithelial(15;0.0839)		STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.199)		TAATCACTGCGTAATCTTCCC	0.602000													9	34					0.000978159	0.00106136	0.000978	1	0
ESRRB	2103	broad.mit.edu	37	14	76965096	76965096	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr14:76965096G>T	ENST00000261532.7	+	8	1396	c.1324G>T	c.(1324-1326)Gag>Tag	p.E442*	ESRRB_ENST00000380887.2_Intron|ESRRB_ENST00000509242.1_Intron|RP11-187O7.3_ENST00000554926.1_lincRNA			A2VDJ2	A2VDJ2_HUMAN	estrogen-related receptor beta	0						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(2)|large_intestine(4)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(234;0.0213)		CTCCCTTCAGGAGTGGAGGCC	0.612000													7	12					3.86212e-05	4.3717e-05	0.008291	1	0
SLC5A7	60482	broad.mit.edu	37	2	108626928	108626928	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr2:108626928C>A	ENST00000264047.2	+	9	1630	c.1354C>A	c.(1354-1356)Cca>Aca	p.P452T	SLC5A7_ENST00000409059.1_Missense_Mutation_p.P452T|SLC5A7_ENST00000540517.1_Missense_Mutation_p.P347T	NM_021815.2	NP_068587.1	Q9GZV3	SC5A7_HUMAN	solute carrier family 5 (sodium/choline cotransporter), member 7	452					acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	TGGAGGGGAGCCATATCTGTA	0.448000													20	54					1.36565e-18	2.32144e-18	0.002780	1	0
DST	667	broad.mit.edu	37	6	56397174	56397174	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr6:56397174T>A	ENST00000370754.5	-	64	16982	c.16983A>T	c.(16981-16983)agA>agT	p.R5661S	DST_ENST00000340834.4_5'UTR|DST_ENST00000370788.2_Missense_Mutation_p.R3395S|DST_ENST00000312431.6_3'UTR|DST_ENST00000446842.2_Missense_Mutation_p.R5157S|DST_ENST00000421834.2_Missense_Mutation_p.R3395S|DST_ENST00000370769.4_Missense_Mutation_p.R5483S|DST_ENST00000244364.6_Missense_Mutation_p.R3069S|DST_ENST00000361203.3_Missense_Mutation_p.R5481S			Q03001	DYST_HUMAN	dystonin	5481					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			ATGCCTCCCATCTGCTATCCA	0.408000													25	17					0	0	0.004656	0	0
SERPINA12	145264	broad.mit.edu	37	14	94964309	94964309	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr14:94964309C>A	ENST00000341228.2	-	3	1221	c.426G>T	c.(424-426)caG>caT	p.Q142H	SERPINA12_ENST00000556881.1_Missense_Mutation_p.Q142H	NM_173850.2	NP_776249.1	Q8IW75	SPA12_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12	142			Q -> K (in dbSNP:rs17090972).		regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33				COAD - Colon adenocarcinoma(157;0.235)		GCTGCAGCCTCTGGTCAATGA	0.468000													31	45					1.26612e-14	1.96758e-14	0.003271	1	0
ANKLE2	23141	broad.mit.edu	37	12	133312078	133312078	+	Silent	SNP	G	G	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr12:133312078G>C	ENST00000539605.1	-	8	8112	c.1428C>G	c.(1426-1428)ctC>ctG	p.L476L	ANKLE2_ENST00000357997.5_Silent_p.L538L|ANKLE2_ENST00000337516.5_Silent_p.L538L			Q86XL3	ANKL2_HUMAN	ankyrin repeat and LEM domain containing 2	538						cytoplasm|integral to membrane|nuclear envelope				NS(2)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(20)|ovary(1)|urinary_tract(2)	45	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06)		GAGTTTTCCAGAGCTTGCGAA	0.517000													55	125					0	0	0.003610	0	0
L1CAM	3897	broad.mit.edu	37	X	153132925	153132925	+	Missense_Mutation	SNP	T	T	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chrX:153132925T>C	ENST00000370060.1	-	17	2212	c.2023A>G	c.(2023-2025)Acc>Gcc	p.T675A	L1CAM_ENST00000370057.3_Missense_Mutation_p.T675A|L1CAM_ENST00000543994.1_Missense_Mutation_p.T677A|L1CAM_ENST00000361699.4_Missense_Mutation_p.T675A|L1CAM_ENST00000361981.3_Missense_Mutation_p.T670A|L1CAM_ENST00000370055.1_Missense_Mutation_p.T670A|L1CAM_ENST00000538883.1_Missense_Mutation_p.T677A	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	675	Fibronectin type-III 1.				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane				NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TTGAGGGTGGTAGAGGTCTGG	0.512000													39	139					0	0	0.009718	0	0
TBC1D17	79735	broad.mit.edu	37	19	50387984	50387984	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr19:50387984G>T	ENST00000221543.5	+	13	1712	c.1413G>T	c.(1411-1413)agG>agT	p.R471S	TBC1D17_ENST00000535102.2_Missense_Mutation_p.R438S	NM_024682.2	NP_078958.2	Q9HA65	TBC17_HUMAN	TBC1 domain family, member 17	471	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			NS(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15		all_lung(116;0.000338)|Lung NSC(112;0.000446)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.017)		TGCTCCTGAGGGTGCTGGACC	0.607000													14	26					8.28177e-16	1.32058e-15	0.007413	1	0
PCMTD1	115294	broad.mit.edu	37	8	52733193	52733193	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr8:52733193C>A	ENST00000360540.5	-	7	1198	c.792G>T	c.(790-792)caG>caT	p.Q264H	PCMTD1_ENST00000544451.1_Missense_Mutation_p.Q188H|PCMTD1_ENST00000522514.1_Missense_Mutation_p.Q264H|PCMTD1_ENST00000519559.1_5'UTR	NM_052937.2	NP_443169.2	Q96MG8	PCMD1_HUMAN	protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1	264						cytoplasm	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity			NS(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(17)|prostate(2)|skin(8)|soft_tissue(1)	37		Lung NSC(129;0.0795)|all_lung(136;0.144)				TCCCCTTGGCCTGCATCTCAT	0.408000													14	136					2.61681e-11	3.6806e-11	0.002450	1	0
FLG	2312	broad.mit.edu	37	1	152283963	152283963	+	Silent	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:152283963C>T	ENST00000368799.1	-	3	3434	c.3399G>A	c.(3397-3399)cgG>cgA	p.R1133R	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1133	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGGTCCTGGTCCGCCCATGGG	0.592000									Ichthyosis				105	236					0	0	0.003610	0	0
COL4A1	1282	broad.mit.edu	37	13	110859048	110859048	+	Silent	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr13:110859048G>A	ENST00000375820.4	-	15	943	c.822C>T	c.(820-822)gtC>gtT	p.V274V	COL4A1_ENST00000543140.1_Silent_p.V274V	NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	274	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			CTTTCTCTCCGACCCCTGGCA	0.363000													26	60					0	0	0.002096	0	0
EYA2	2139	broad.mit.edu	37	20	45717947	45717947	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr20:45717947C>A	ENST00000327619.5	+	8	1105	c.731C>A	c.(730-732)gCc>gAc	p.A244D	EYA2_ENST00000317304.6_Missense_Mutation_p.A244D|EYA2_ENST00000357410.3_Missense_Mutation_p.A244D	NM_005244.4	NP_005235.3	O00167	EYA2_HUMAN	eyes absent homolog 2 (Drosophila)	244					DNA repair|histone dephosphorylation|mesodermal cell fate specification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	magnesium ion binding|protein binding|protein tyrosine phosphatase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0241)				CCGCACCGGGCCTCCGACGGG	0.577000													40	66					9.85913e-13	1.44201e-12	0.009718	1	0
GPR124	25960	broad.mit.edu	37	8	37698729	37698729	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr8:37698729C>A	ENST00000315215.7	+	16	2585	c.2222C>A	c.(2221-2223)cCc>cAc	p.P741H	GPR124_ENST00000412232.2_Missense_Mutation_p.P958H			Q96PE1	GP124_HUMAN	G protein-coupled receptor 124	958	GPS.				central nervous system development|endothelial cell migration|neuropeptide signaling pathway|regulation of angiogenesis|regulation of chemotaxis|sprouting angiogenesis	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37			BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			GCACAGAACCCCAAGGCGGGC	0.637000													12	27					1.08611e-07	1.35949e-07	0.000978	1	0
OR13J1	392309	broad.mit.edu	37	9	35869787	35869787	+	Silent	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr9:35869787G>T	ENST00000377981.2	-	1	674	c.612C>A	c.(610-612)atC>atA	p.I204I		NM_001004487.1	NP_001004487.1	Q8NGT2	O13J1_HUMAN	olfactory receptor, family 13, subfamily J, member 1	204					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|large_intestine(1)|lung(3)|skin(1)	6	all_epithelial(49;0.169)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00494)|STAD - Stomach adenocarcinoma(86;0.194)			GCAGCAGCAGGATGGAGCCCG	0.617000													15	13					1.49906e-05	1.72615e-05	0.002450	1	0
OR2T6	254879	broad.mit.edu	37	1	248551323	248551323	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:248551323G>T	ENST00000355728.2	+	1	414	c.414G>T	c.(412-414)tgG>tgT	p.W138C		NM_001005471.1	NP_001005471.1	Q8NHC8	OR2T6_HUMAN	olfactory receptor, family 2, subfamily T, member 6	138					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(5)|lung(38)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TCATCAGCTGGCGGGTCTGCT	0.582000													26	32					4.22769e-11	5.90107e-11	0.006320	1	0
PLD1	5337	broad.mit.edu	37	3	171451267	171451267	+	Silent	SNP	T	T	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr3:171451267T>C	ENST00000356327.5	-	6	643	c.573A>G	c.(571-573)ctA>ctG	p.L191L	PLD1_ENST00000351298.4_Silent_p.L191L|PLD1_ENST00000342215.6_Silent_p.L191L|PLD1_ENST00000340989.4_Silent_p.L191L	NM_001130081.2	NP_001123553.1	Q13393	PLD1_HUMAN	phospholipase D1, phosphatidylcholine-specific	191	PX.				cell communication|chemotaxis|Ras protein signal transduction	endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	TGGGCATTTTTAGTATCTTTG	0.279000													24	46					0	0	0.007291	0	0
ZFPM2	23414	broad.mit.edu	37	8	106815570	106815570	+	Missense_Mutation	SNP	A	A	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr8:106815570A>G	ENST00000407775.2	+	8	3510	c.3260A>G	c.(3259-3261)aAt>aGt	p.N1087S	RP11-152P17.2_ENST00000520594.1_RNA|RP11-152P17.2_ENST00000509144.2_RNA|RP11-152P17.2_ENST00000521622.1_RNA|ZFPM2_ENST00000517361.1_Missense_Mutation_p.N955S|ZFPM2_ENST00000378472.4_Missense_Mutation_p.N818S|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000518932.1_RNA|ZFPM2_ENST00000520492.1_Missense_Mutation_p.N955S|RP11-152P17.2_ENST00000524045.2_RNA	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	1087					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			TTAGCTGCCAATGAGAATGTC	0.498000													8	21					0	0	0.004482	0	0
UHRF1BP1	54887	broad.mit.edu	37	6	34789481	34789481	+	Silent	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr6:34789481G>A	ENST00000192788.5	+	2	267	c.96G>A	c.(94-96)ggG>ggA	p.G32G	UHRF1BP1_ENST00000452449.2_Silent_p.G32G	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	32										breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						CCCTGAAAGGGGAGGGTCAGC	0.478000													48	51					0	0	0.003610	0	0
FCRL6	343413	broad.mit.edu	37	1	159778918	159778918	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:159778918C>A	ENST00000321935.6	+	5	594	c.508C>A	c.(508-510)Cca>Aca	p.P170T	FCRL6_ENST00000392235.3_Intron|FCRL6_ENST00000368106.3_Missense_Mutation_p.P163T|FCRL6_ENST00000339348.5_Missense_Mutation_p.P163T			Q6DN72	FCRL6_HUMAN	Fc receptor-like 6	163	Ig-like C2-type 2.					integral to membrane				NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	24	all_hematologic(112;0.0597)					GGGCCCTCACCCAGAACTCTG	0.622000													7	47					1.76689e-08	2.26775e-08	0.006214	1	0
CCDC40	55036	broad.mit.edu	37	17	78055541	78055541	+	Missense_Mutation	SNP	A	A	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr17:78055541A>G	ENST00000397545.4	+	11	1786	c.1759A>G	c.(1759-1761)Agg>Ggg	p.R587G	CCDC40_ENST00000374877.3_Missense_Mutation_p.R587G	NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	587					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			CAATACCTACAGGCTCACCCT	0.642000													6	18					0	0	0.001984	0	0
WNT9A	7483	broad.mit.edu	37	1	228109639	228109639	+	Silent	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:228109639C>T	ENST00000272164.5	-	4	688	c.678G>A	c.(676-678)gtG>gtA	p.V226V	WNT9A_ENST00000497852.1_Intron	NM_003395.2	NP_003386.1	O14904	WNT9A_HUMAN	wingless-type MMTV integration site family, member 9A	226					anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|cornea development in camera-type eye|embryonic arm morphogenesis|embryonic skeletal joint morphogenesis|endoderm development|iris morphogenesis|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|neuron differentiation|positive regulation of smoothened signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|G-protein-coupled receptor binding|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19		Prostate(94;0.0405)				AGCAGGTCCGCACCGTGCATG	0.627000													9	54					0	0	0.004482	0	0
NOX3	50508	broad.mit.edu	37	6	155728288	155728288	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr6:155728288T>A	ENST00000159060.2	-	12	1658	c.1556A>T	c.(1555-1557)aAg>aTg	p.K519M		NM_015718.2	NP_056533.1	Q9HBY0	NOX3_HUMAN	NADPH oxidase 3	519							electron carrier activity|flavin adenine dinucleotide binding|iron ion binding			cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	45		Breast(66;0.0183)		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)		GGCAATCTGCTTGAACTCATT	0.488000													8	28					0	0	0.004482	0	0
OR56A1	120796	broad.mit.edu	37	11	6047984	6047984	+	Silent	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr11:6047984C>A	ENST00000316650.5	-	1	987	c.951G>T	c.(949-951)ggG>ggT	p.G317G		NM_001001917.2	NP_001001917.2	Q8NGH5	O56A1_HUMAN	olfactory receptor, family 56, subfamily A, member 1	317					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(22)|ovary(2)	33		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATATTCACCTCCCTCTCTGCA	0.413000													14	25					1.49906e-05	1.72615e-05	0.002450	1	0
CREBBP	1387	broad.mit.edu	37	16	3777847	3777847	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr16:3777847C>A	ENST00000262367.5	-	31	8010	c.7201G>T	c.(7201-7203)Ggg>Tgg	p.G2401W	CREBBP_ENST00000382070.3_Missense_Mutation_p.G2363W	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	2401					cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		TCGGGGTTCCCCAAGTGTCCC	0.652000			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome						32	53					9.78306e-22	1.7333e-21	0.009535	1	0
ZNF653	115950	broad.mit.edu	37	19	11597835	11597835	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr19:11597835G>A	ENST00000293771.5	-	5	1446	c.1310C>T	c.(1309-1311)gCc>gTc	p.A437V	CTC-398G3.6_ENST00000585656.1_Intron	NM_138783.3	NP_620138.2	Q96CK0	ZN653_HUMAN	zinc finger protein 653	437					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	17						ATAGATGATGGCTGACATGTC	0.677000													14	23					0	0	0.002450	0	0
SERPINA4	5267	broad.mit.edu	37	14	95029947	95029947	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr14:95029947G>A	ENST00000557004.1	+	2	549	c.128G>A	c.(127-129)gGt>gAt	p.G43D	SERPINA5_ENST00000553780.1_Intron|SERPINA4_ENST00000298841.5_Missense_Mutation_p.G43D|SERPINA4_ENST00000555095.1_Missense_Mutation_p.G43D			P29622	KAIN_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4	43					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(28)|ovary(3)|skin(1)|urinary_tract(1)	46				COAD - Colon adenocarcinoma(157;0.211)		CTGGAGACAGGTGAGGGCTCC	0.562000													14	33					0	0	0.002450	0	0
CELF3	11189	broad.mit.edu	37	1	151682231	151682231	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:151682231C>T	ENST00000290583.4	-	3	1058	c.265G>A	c.(265-267)Gag>Aag	p.E89K	CELF3_ENST00000290585.4_Missense_Mutation_p.E89K|CELF3_ENST00000470688.1_5'UTR	NM_001172648.1|NM_007185.4	NP_001166119.1|NP_009116.3	Q5SZQ8	CELF3_HUMAN	CUGBP, Elav-like family member 3	89					nuclear mRNA splicing, via spliceosome|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	mRNA binding|nucleotide binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)	21						CCTCGGCTCTCGCTGTCGGCT	0.622000													11	61					0	0	0.008871	0	0
SORCS1	114815	broad.mit.edu	37	10	108339226	108339226	+	Missense_Mutation	SNP	A	A	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr10:108339226A>G	ENST00000263054.6	-	25	3279	c.3272T>C	c.(3271-3273)cTg>cCg	p.L1091P	SORCS1_ENST00000369698.1_Missense_Mutation_p.L626P|SORCS1_ENST00000344440.6_Missense_Mutation_p.L1091P	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	1091						integral to membrane	neuropeptide receptor activity|protein binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		GAGGTCCACCAGGGGGGCTTG	0.517000													6	22					0	0	0.003080	0	0
KCNV2	169522	broad.mit.edu	37	9	2718331	2718331	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr9:2718331T>A	ENST00000382082.3	+	1	830	c.592T>A	c.(592-594)Tgc>Agc	p.C198S		NM_133497.3	NP_598004.1	Q8TDN2	KCNV2_HUMAN	potassium channel, subfamily V, member 2	198						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	35				GBM - Glioblastoma multiforme(50;0.0257)		CACGCCACGCTGCTGCCGCAT	0.697000													3	9					0	0	0.004672	0	0
CAND1	55832	broad.mit.edu	37	12	67696315	67696315	+	Missense_Mutation	SNP	A	A	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr12:67696315A>T	ENST00000545606.1	+	8	1650	c.1213A>T	c.(1213-1215)Act>Tct	p.T405S		NM_018448.3	NP_060918.2	Q86VP6	CAND1_HUMAN	cullin-associated and neddylation-dissociated 1	405					cell differentiation|negative regulation of catalytic activity|protein ubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|ubiquitin ligase complex	protein binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)	35			GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)		TTTGAAGCAAACTCGTCCTGT	0.418000													69	26					0	0	0.003610	0	0
PARD6B	84612	broad.mit.edu	37	20	49366697	49366697	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr20:49366697G>T	ENST00000371610.2	+	3	1034	c.791G>T	c.(790-792)aGt>aTt	p.S264I	PARD6B_ENST00000396039.1_Intron	NM_032521.2	NP_115910.1	Q9BYG5	PAR6B_HUMAN	par-6 family cell polarity regulator beta	264					axonogenesis|cell cycle|cell division|establishment or maintenance of cell polarity|protein complex assembly|regulation of cell migration|tight junction assembly	cytosol|tight junction	protein binding			NS(1)|breast(1)|endometrium(1)|kidney(4)|lung(3)|urinary_tract(1)	11						ACTTCTGGCAGTTCCGGTCAG	0.463000													63	120					7.73544e-29	1.4586e-28	0.003610	1	0
FAM65C	140876	broad.mit.edu	37	20	49208924	49208924	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr20:49208924G>A	ENST00000327979.2	-	19	2933	c.2522C>T	c.(2521-2523)gCt>gTt	p.A841V	FAM65C_ENST00000045083.2_Missense_Mutation_p.A841V|FAM65C_ENST00000535356.1_Missense_Mutation_p.A845V			Q96MK2	FA65C_HUMAN	family with sequence similarity 65, member C	841										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(1)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						AGCCAGGCGAGCGCTGGCCGC	0.657000													25	63					0	0	0.008361	0	0
ACACB	32	broad.mit.edu	37	12	109613743	109613743	+	Silent	SNP	A	A	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr12:109613743A>T	ENST00000338432.7	+	8	1343	c.1224A>T	c.(1222-1224)acA>acT	p.T408T	ACACB_ENST00000377848.3_Silent_p.T408T|ACACB_ENST00000377854.5_Silent_p.T408T			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	408	Biotin carboxylation.				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	CAGGCCTGACAGTGGAGTGGA	0.502000													7	34					0	0	0.003080	0	0
MYO18B	84700	broad.mit.edu	37	22	26298650	26298650	+	Nonsense_Mutation	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr22:26298650C>T	ENST00000335473.7	+	30	5144	c.4894C>T	c.(4894-4896)Cag>Tag	p.Q1632*	MYO18B_ENST00000536204.1_3'UTR|MYO18B_ENST00000536101.1_Nonsense_Mutation_p.Q1632*|MYO18B_ENST00000407587.2_Nonsense_Mutation_p.Q1633*	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	1632	Tail.					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						GAAAGTGACCCAGGAGAACAC	0.577000													8	2					0	0	0.003080	0	0
FAM181A	90050	broad.mit.edu	37	14	94395378	94395378	+	Silent	SNP	C	C	A	rs34468063		TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr14:94395378C>A	ENST00000267594.5	+	3	1240	c.933C>A	c.(931-933)ccC>ccA	p.P311P	FAM181A_ENST00000557719.1_Silent_p.P249P|FAM181A_ENST00000557000.2_Silent_p.P249P|FAM181A_ENST00000556222.1_Silent_p.P249P	NM_001207073.1|NM_001207074.1|NM_138344.4	NP_001194002.1|NP_001194003.1|NP_612353.3	Q8N9Y4	F181A_HUMAN	family with sequence similarity 181, member A	311										cervix(1)|endometrium(2)|large_intestine(8)|lung(4)|prostate(1)|skin(2)	18						CAGCCTTTCCCGGGGAGCTGG	0.672000													12	23					5.50884e-06	6.4037e-06	0.001368	1	0
COL20A1	57642	broad.mit.edu	37	20	61945437	61945437	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr20:61945437G>T	ENST00000422202.1	+	18	2461	c.2393G>T	c.(2392-2394)gGa>gTa	p.G798V	COL20A1_ENST00000358894.6_Missense_Mutation_p.G791V|COL20A1_ENST00000326996.6_Missense_Mutation_p.G791V|COL20A1_ENST00000435874.1_Missense_Mutation_p.G798V			Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	791	Fibronectin type-III 6.				cell adhesion	collagen|extracellular space	structural molecule activity			NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					TCTGTGCCAGGAGCCAGGAGC	0.637000													14	16					4.14922e-12	5.96171e-12	0.004007	1	0
GPR148	344561	broad.mit.edu	37	2	131487721	131487721	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr2:131487721G>T	ENST00000309926.4	+	1	1079	c.997G>T	c.(997-999)Ggc>Tgc	p.G333C		NM_207364.2	NP_997247.2	Q8TDV2	GP148_HUMAN	G protein-coupled receptor 148	333						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(15)|skin(3)|upper_aerodigestive_tract(1)	27	Colorectal(110;0.1)					CATGGTCCGGGGCCACCTCCC	0.542000													11	14					3.86212e-05	4.3717e-05	0.008291	1	0
SFSWAP	6433	broad.mit.edu	37	12	132249067	132249067	+	Missense_Mutation	SNP	A	A	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr12:132249067A>T	ENST00000261674.4	+	12	1928	c.1787A>T	c.(1786-1788)aAt>aTt	p.N596I	SFSWAP_ENST00000541286.1_Missense_Mutation_p.N596I	NM_004592.3	NP_004583.2	Q12872	SFSWA_HUMAN	splicing factor, suppressor of white-apricot homolog (Drosophila)	596					mRNA splice site selection|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|RNA binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(8)|ovary(1)|skin(2)	25						CTGGAAAAAAATCGTGTTAAG	0.408000													6	76					0	0	0.001168	0	0
DTNA	1837	broad.mit.edu	37	18	32335943	32335943	+	Translation_Start_Site	SNP	G	G	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr18:32335943G>C	ENST00000283365.9	+	3	354	c.3G>C	c.(1-3)atG>atC	p.M1I	DTNA_ENST00000399097.3_5'UTR|DTNA_ENST00000596745.1_Start_Codon_SNP_p.M1I|DTNA_ENST00000598142.1_Start_Codon_SNP_p.M1I|DTNA_ENST00000399121.5_Start_Codon_SNP_p.M1I|DTNA_ENST00000598774.1_Start_Codon_SNP_p.M1I|DTNA_ENST00000399113.3_Start_Codon_SNP_p.M1I|DTNA_ENST00000598334.1_Start_Codon_SNP_p.M1I|RP11-138H11.1_ENST00000596954.1_RNA|DTNA_ENST00000444659.1_Start_Codon_SNP_p.M1I|DTNA_ENST00000597599.1_Start_Codon_SNP_p.M1I|DTNA_ENST00000315456.6_Start_Codon_SNP_p.M1I|DTNA_ENST00000595022.1_Start_Codon_SNP_p.M1I|DTNA_ENST00000269190.7_Start_Codon_SNP_p.M1I|DTNA_ENST00000348997.5_Start_Codon_SNP_p.M1I|DTNA_ENST00000269191.6_Start_Codon_SNP_p.M1I|DTNA_ENST00000554864.3_Start_Codon_SNP_p.M1I	NM_032975.3	NP_116757.2	Q9Y4J8	DTNA_HUMAN	dystrobrevin, alpha	1	Interaction with MAGEE1 (By similarity).				neuromuscular synaptic transmission|signal transduction|striated muscle contraction	cell junction|cytoplasm|synapse	calcium ion binding|protein binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(2)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	29						CTCATAGAATGATTGAAGATA	0.378000													16	34					0	0	0.007413	0	0
SPTA1	6708	broad.mit.edu	37	1	158639227	158639227	+	Missense_Mutation	SNP	T	T	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:158639227T>C	ENST00000368148.3	-	14	1984	c.1804A>G	c.(1804-1806)Aaa>Gaa	p.K602E	SPTA1_ENST00000368147.3_Missense_Mutation_p.K602E	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	602					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GCCAACTTTTTCTTCTTGTTG	0.418000													32	218					0	0	0.003271	0	0
SORCS3	22986	broad.mit.edu	37	10	106974319	106974319	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr10:106974319G>T	ENST00000369701.3	+	18	2722	c.2495G>T	c.(2494-2496)cGg>cTg	p.R832L	SORCS3_ENST00000369699.4_Missense_Mutation_p.R118L	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	832	PKD.					integral to membrane	neuropeptide receptor activity	p.R832L(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		ACCGATGGGCGGCTGGTGGCA	0.582000													9	19					1.12685e-05	1.30267e-05	0.004482	1	0
C17orf74	201243	broad.mit.edu	37	17	7330190	7330190	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr17:7330190C>A	ENST00000333870.3	+	3	954	c.880C>A	c.(880-882)Ccc>Acc	p.P294T	C17orf74_ENST00000574034.1_3'UTR|RP11-104H15.7_ENST00000575310.1_RNA	NM_175734.4	NP_783861.3	Q0P670	CQ074_HUMAN	chromosome 17 open reading frame 74	294						integral to membrane				cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	22		Prostate(122;0.157)				CTCTTGGGTCCCCGTGGGGCA	0.677000													19	15					1.64113e-05	1.88679e-05	0.010504	1	0
SVEP1	79987	broad.mit.edu	37	9	113198698	113198698	+	Nonsense_Mutation	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr9:113198698G>A	ENST00000401783.2	-	28	5062	c.4726C>T	c.(4726-4728)Cag>Tag	p.Q1576*	SVEP1_ENST00000374469.1_Nonsense_Mutation_p.Q1553*	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	1576	Pentaxin.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						AGGTTGAGCTGGCTTATGGAG	0.468000													21	18					0	0	0.010504	0	0
CTSA	5476	broad.mit.edu	37	20	44527062	44527062	+	Silent	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr20:44527062C>T	ENST00000372484.3	+	15	1752	c.1470C>T	c.(1468-1470)tcC>tcT	p.S490S	CTSA_ENST00000191018.5_Silent_p.S472S|CTSA_ENST00000372459.2_Silent_p.S472S|CTSA_ENST00000354880.5_Silent_p.S473S	NM_000308.2|NM_001127695.1	NP_000299.2|NP_001121167.1	P10619	PPGB_HUMAN	cathepsin A	472					intracellular protein transport|proteolysis	endoplasmic reticulum|lysosome|nucleus	enzyme activator activity|protein binding|serine-type carboxypeptidase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.0122)				CCATGTTCTCCCGCTTCCTGA	0.612000													4	33					0	0	0.000602	0	0
TSHZ3	57616	broad.mit.edu	37	19	31767730	31767730	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr19:31767730G>C	ENST00000240587.4	-	2	3296	c.2969C>G	c.(2968-2970)aCg>aGg	p.T990R		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	990					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					ACTGATGTACGTGGAAGGAGT	0.483000													13	33					0	0	0.001368	0	0
WFDC5	149708	broad.mit.edu	37	20	43739107	43739107	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr20:43739107C>A	ENST00000307971.4	-	3	379	c.301G>T	c.(301-303)Gac>Tac	p.D101Y	WFDC5_ENST00000372789.4_Missense_Mutation_p.D101Y			Q8TCV5	WFDC5_HUMAN	WAP four-disulfide core domain 5	101	WAP 2.					extracellular region	serine-type endopeptidase inhibitor activity			kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	5		Myeloproliferative disorder(115;0.0122)				CCCGAGCAGTCTGAGTCCTTG	0.647000													4	13					0.00024832	0.000273693	0.009096	1	0
ABCC12	94160	broad.mit.edu	37	16	48167679	48167679	+	Silent	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr16:48167679C>T	ENST00000311303.3	-	7	1392	c.1047G>A	c.(1045-1047)ctG>ctA	p.L349L	ABCC12_ENST00000448542.1_Silent_p.L349L|ABCC12_ENST00000416054.1_Silent_p.L349L	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	349	ABC transmembrane type-1 1.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				CGATGGGGGCCAGGGCAGAGT	0.498000													13	24					0	0	0.003163	0	0
CACNA1I	8911	broad.mit.edu	37	22	40055735	40055735	+	Missense_Mutation	SNP	T	T	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr22:40055735T>C	ENST00000336649.4	+	17	2500	c.2500T>C	c.(2500-2502)Tac>Cac	p.Y834H	CACNA1I_ENST00000402142.3_Missense_Mutation_p.Y828H|CACNA1I_ENST00000401624.1_Missense_Mutation_p.Y828H|CACNA1I_ENST00000404898.1_Missense_Mutation_p.Y793H|CACNA1I_ENST00000407673.1_Missense_Mutation_p.Y793H|CACNA1I_ENST00000400164.3_Missense_Mutation_p.Y793H			Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	828					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	CGTCGTTCTCTACAATGGCAT	0.577000													59	72					0	0	0.003610	0	0
CCDC19	25790	broad.mit.edu	37	1	159850393	159850393	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:159850393T>A	ENST00000426543.2	-	8	1195	c.740A>T	c.(739-741)cAg>cTg	p.Q247L	CCDC19_ENST00000368099.4_Missense_Mutation_p.Q332L|CCDC19_ENST00000476696.1_5'UTR			Q9UL16	CCD19_HUMAN	coiled-coil domain containing 19	332						mitochondrion|soluble fraction				endometrium(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	26	all_hematologic(112;0.0597)		BRCA - Breast invasive adenocarcinoma(70;0.151)			CAGCTTCTCCTGAGCCAGCAG	0.463000													48	55					0	0	0.003610	0	0
LONRF3	79836	broad.mit.edu	37	X	118140177	118140177	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chrX:118140177G>T	ENST00000365713.2	+	5	1549	c.1386G>T	c.(1384-1386)ttG>ttT	p.L462F	LONRF3_ENST00000472173.1_3'UTR|LONRF3_ENST00000371628.3_Missense_Mutation_p.L503F|LONRF3_ENST00000422289.2_Missense_Mutation_p.L247F|LONRF3_ENST00000304778.7_Missense_Mutation_p.L462F			Q496Y0	LONF3_HUMAN	LON peptidase N-terminal domain and ring finger 3	503					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						AGTGTCCATTGTGCAAAGACG	0.358000													53	131					8.44121e-28	1.58354e-27	0.003610	1	0
NCOA2	10499	broad.mit.edu	37	8	71039095	71039095	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr8:71039095C>T	ENST00000452400.2	-	19	4050	c.3869G>A	c.(3868-3870)cGg>cAg	p.R1290Q	NCOA2_ENST00000267974.4_Missense_Mutation_p.R378Q	NM_006540.2	NP_006531.1	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	1290					cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity		PAX3/NCOA2(4)|HEY1/NCOA2(10)	NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			CTGGGGAATCCGAGGGTTGCT	0.502000			T	"""RUNXBP2, HEY1"""	"""AML, Chondrosarcoma"""								13	19					0	0	0.001855	0	0
VWA2	340706	broad.mit.edu	37	10	116020984	116020984	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr10:116020984C>G	ENST00000603594.1	+	5	622	c.301C>G	c.(301-303)Ctg>Gtg	p.L101V	VWA2_ENST00000392982.3_Missense_Mutation_p.L101V	NM_001272046.1	NP_001258975.1	Q5GFL6	VWA2_HUMAN	von Willebrand factor A domain containing 2	101	VWFA 1.					extracellular region				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26				Epithelial(162;0.036)|all cancers(201;0.0793)		CACTCCTCATCTGGAATTCCC	0.483000													11	131					0	0	0.001855	0	0
ALKBH5	54890	broad.mit.edu	37	17	18110155	18110155	+	Missense_Mutation	SNP	A	A	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr17:18110155A>T	ENST00000399138.4	+	3	883	c.878A>T	c.(877-879)gAa>gTa	p.E293V	ALKBH5_ENST00000541285.1_5'UTR	NM_017758.3	NP_060228.3	Q6P6C2	ALKB5_HUMAN	alkB, alkylation repair homolog 5 (E. coli)	293						integral to membrane	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(2)|ovary(1)|skin(1)	10	all_neural(463;0.228)					CCCCGGTTGGAAACAAAGTCC	0.552000													51	143					0	0	0.003610	0	0
ABCA3	21	broad.mit.edu	37	16	2334802	2334802	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr16:2334802C>T	ENST00000301732.5	-	24	4381	c.3681G>A	c.(3679-3681)atG>atA	p.M1227I	ABCA3_ENST00000382381.3_Missense_Mutation_p.M1169I	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	1227					response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)				TGATGGTGACCATCAGGAAGG	0.622000													10	19					0	0	0.006214	0	0
RRAGC	64121	broad.mit.edu	37	1	39317399	39317399	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:39317399C>A	ENST00000373001.3	-	5	963	c.787G>T	c.(787-789)Gat>Tat	p.D263Y		NM_022157.2	NP_071440.1	Q9HB90	RRAGC_HUMAN	Ras-related GTP binding C	263					apoptosis|cell growth|cellular protein localization|cellular response to amino acid stimulus|positive regulation of TOR signaling cascade|RNA splicing|small GTPase mediated signal transduction|transcription, DNA-dependent	lysosome|nucleus	GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein heterodimerization activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)	10	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)				CTGACAACATCAAAGAGAAAA	0.338000													12	39					9.05144e-12	1.2942e-11	0.001855	1	0
IGKV1D-12	28903	broad.mit.edu	37	2	90199170	90199170	+	RNA	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr2:90199170C>A	ENST00000390276.2	+	0	512																											TTACTATTGTCAACAGGCTAA	0.527000													13	126					1.01871e-10	1.40456e-10	0.008871	1	0
SEPT3	55964	broad.mit.edu	37	22	42388689	42388689	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr22:42388689G>T	ENST00000396425.3	+	8	918	c.787G>T	c.(787-789)Gtg>Ttg	p.V263L	SEPT3_ENST00000328414.8_3'UTR|SEPT3_ENST00000291236.11_Missense_Mutation_p.V199L|SEPT3_ENST00000396426.3_Missense_Mutation_p.V263L|SEPT3_ENST00000406029.1_Missense_Mutation_p.V199L	NM_019106.5	NP_061979.3	Q9UH03	SEPT3_HUMAN	septin 3	263					cell cycle|cytokinesis	cell junction|septin complex	GTP binding			breast(1)|kidney(3)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	17						GCCTTTTGCTGTGGTGGGAAG	0.532000													3	13					0.00909568	0.0094903	0.009096	1	0
TSHR	7253	broad.mit.edu	37	14	81610378	81610378	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr14:81610378C>A	ENST00000541158.2	+	11	2298	c.1976C>A	c.(1975-1977)tCc>tAc	p.S659Y	RP11-114N19.3_ENST00000557775.1_RNA|TSHR_ENST00000298171.2_Missense_Mutation_p.S659Y			P16473	TSHR_HUMAN	thyroid stimulating hormone receptor	659			Missing (in hyperthyroidism; associated with hyperfunctioning thyroid adenomas).		cell-cell signaling|positive regulation of cell proliferation	integral to plasma membrane	protein binding|thyroid-stimulating hormone receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1)	337				BRCA - Breast invasive adenocarcinoma(234;0.0402)	Thyrotropin Alfa(DB00024)	GTTAGCAACTCCAAAATCTTG	0.448000			Mis		toxic thyroid adenoma	thyroid  adenoma	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism						45	70					2.43139e-17	3.98086e-17	0.003610	1	0
GFRAL	389400	broad.mit.edu	37	6	55216119	55216119	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr6:55216119C>G	ENST00000340465.2	+	5	525	c.439C>G	c.(439-441)Cag>Gag	p.Q147E		NM_207410.2	NP_997293.2	Q6UXV0	GFRAL_HUMAN	GDNF family receptor alpha like	147						integral to membrane	receptor activity			NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	48	Lung NSC(77;0.0875)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			CTGTAATGCACAGTTGGCCTC	0.458000													26	189					0	0	0.006320	0	0
ENTHD1	150350	broad.mit.edu	37	22	40283560	40283560	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr22:40283560C>A	ENST00000325157.6	-	2	443	c.193G>T	c.(193-195)Ggg>Tgg	p.G65W		NM_152512.3	NP_689725.2	Q8IYW4	ENTD1_HUMAN	ENTH domain containing 1	65	ENTH.									breast(2)|endometrium(1)|kidney(6)|large_intestine(6)|lung(11)|ovary(3)|skin(3)	32	Melanoma(58;0.0749)					CAGTTCTTCCCATGGTCATTG	0.413000													24	119					9.86323e-18	1.63681e-17	0.003954	1	0
ZBTB21	49854	broad.mit.edu	37	21	43413863	43413863	+	Silent	SNP	C	C	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr21:43413863C>G	ENST00000310826.5	-	3	525	c.342G>C	c.(340-342)ctG>ctC	p.L114L	ZBTB21_ENST00000465968.1_Intron|ZBTB21_ENST00000398499.1_Silent_p.L114L|ZBTB21_ENST00000398511.3_Silent_p.L114L|ZBTB21_ENST00000398505.3_Silent_p.L114L	NM_001098402.1	NP_001091872.1			zinc finger and BTB domain containing 21																		CGATGTTAGTCAGAAAGGAAA	0.368000													11	27					0	0	0.001855	0	0
MRPS6	64968	broad.mit.edu	37	21	35514757	35514757	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr21:35514757G>T	ENST00000399312.2	+	3	413	c.235G>T	c.(235-237)Gtg>Ttg	p.V79L	MRPS6_ENST00000482679.1_3'UTR	NM_032476.3	NP_115865.1	P82932	RT06_HUMAN	mitochondrial ribosomal protein S6	79					translation	mitochondrion|small ribosomal subunit	rRNA binding|structural constituent of ribosome			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|pancreas(1)|skin(1)	6						TGAAAGCATGGTGGAGCACTT	0.408000													25	40					6.07407e-21	1.0646e-20	0.007291	1	0
OR9Q2	219957	broad.mit.edu	37	11	57958227	57958227	+	Missense_Mutation	SNP	G	G	A	rs142991971		TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr11:57958227G>A	ENST00000311591.3	+	1	322	c.265G>A	c.(265-267)Ggc>Agc	p.G89S		NM_001005283.2	NP_001005283.1	Q8NGE9	OR9Q2_HUMAN	olfactory receptor, family 9, subfamily Q, member 2	89					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(2)|endometrium(1)|large_intestine(3)|lung(24)|ovary(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41		Breast(21;0.0589)				GTGGGAGCACGGCACAACCAT	0.572000													29	80					0	0	0.009535	0	0
NLRC5	84166	broad.mit.edu	37	16	57104528	57104528	+	Silent	SNP	G	G	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr16:57104528G>C	ENST00000262510.6	+	38	4890	c.4665G>C	c.(4663-4665)ctG>ctC	p.L1555L	NLRC5_ENST00000436936.1_3'UTR|NLRC5_ENST00000539144.1_Silent_p.L1526L|NLRC5_ENST00000308149.7_Silent_p.L1526L	NM_032206.4	NP_115582.4	Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	1555					defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				TAAAGAGGCTGGAGTAAGTAG	0.527000													27	49					0	0	0.007291	0	0
SUCO	51430	broad.mit.edu	37	1	172579351	172579351	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:172579351G>T	ENST00000367723.3	+	23	4297	c.4173G>T	c.(4171-4173)gaG>gaT	p.E1391D	SUCO_ENST00000263688.3_Missense_Mutation_p.E1239D	NM_016227.2	NP_057311.2			SUN domain containing ossification factor																		GAAACAAAGAGATCACCGTGG	0.368000													15	34					4.14922e-12	5.96171e-12	0.004007	1	0
TNFRSF19	55504	broad.mit.edu	37	13	24190104	24190104	+	Silent	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr13:24190104G>T	ENST00000382263.3	+	4	463	c.279G>T	c.(277-279)ctG>ctT	p.L93L	TNFRSF19_ENST00000382258.4_Silent_p.L93L|TNFRSF19_ENST00000248484.4_Silent_p.L93L|TNFRSF19_ENST00000403372.2_5'UTR	NM_001204458.1	NP_001191387.1	Q9NS68	TNR19_HUMAN	tumor necrosis factor receptor superfamily, member 19	93					apoptosis|induction of apoptosis|JNK cascade	integral to membrane|mitochondrion	tumor necrosis factor receptor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	22		all_cancers(29;3.4e-22)|all_epithelial(30;8.75e-19)|all_lung(29;5.09e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00193)|Epithelial(112;0.0137)|OV - Ovarian serous cystadenocarcinoma(117;0.0465)|GBM - Glioblastoma multiforme(144;0.184)|Lung(94;0.19)		AGCCCTGTCTGGACTGCGCAG	0.567000													33	19					8.73648e-17	1.41775e-16	0.004289	1	0
TPH1	7166	broad.mit.edu	37	11	18044361	18044361	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr11:18044361C>A	ENST00000250018.2	-	9	1706	c.1144G>T	c.(1144-1146)Gca>Tca	p.A382S	RP1-59M18.2_ENST00000525523.1_RNA|TPH1_ENST00000525406.1_5'UTR|TPH1_ENST00000341556.2_Missense_Mutation_p.A382S	NM_004179.2	NP_004170.1	P17752	TPH1_HUMAN	tryptophan hydroxylase 1	382					aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(14)|prostate(1)|stomach(1)	25					L-Tryptophan(DB00150)|Tetrahydrobiopterin(DB00360)	TTCTCCTTTGCATCTTCAAAA	0.398000													17	19					0.00400662	0.00425922	0.004007	1	0
TMEM68	137695	broad.mit.edu	37	8	56675424	56675424	+	Missense_Mutation	SNP	T	T	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr8:56675424T>G	ENST00000434581.2	-	3	294	c.95A>C	c.(94-96)gAg>gCg	p.E32A	TMEM68_ENST00000334667.2_Missense_Mutation_p.E32A|TMEM68_ENST00000523073.1_Intron|TMEM68_ENST00000522576.1_Missense_Mutation_p.E32A|TMEM68_ENST00000519784.1_Intron|TMEM68_ENST00000521229.1_Missense_Mutation_p.E32A			Q96MH6	TMM68_HUMAN	transmembrane protein 68	32						integral to membrane	acyltransferase activity			NS(1)|kidney(1)|lung(2)|ovary(1)|skin(1)	6			Epithelial(17;0.000361)|all cancers(17;0.00326)			CTCCAACTGCTCCACACCAAA	0.358000													77	220					0	0	0.003610	0	0
IGHV6-1	28385	broad.mit.edu	37	14	106405775	106405775	+	RNA	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr14:106405775G>T	ENST00000390593.2	-	0	250																											AGCCACTCAAGGCCTCTCGAT	0.517000													39	85					4.16155e-14	6.35936e-14	0.008740	1	0
HCN1	348980	broad.mit.edu	37	5	45262526	45262526	+	Missense_Mutation	SNP	C	C	T	rs141383188	byFrequency	TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr5:45262526C>T	ENST00000303230.4	-	8	2227	c.2170G>A	c.(2170-2172)Gcc>Acc	p.A724T		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	724						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						AGCTGGGAGGCGGTGGGGGAG	0.652000													12	26					0	0	0.001855	0	0
ZMYM4	9202	broad.mit.edu	37	1	35852719	35852719	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:35852719C>T	ENST00000314607.6	+	12	2032	c.1952C>T	c.(1951-1953)tCt>tTt	p.S651F	ZMYM4_ENST00000373297.2_Missense_Mutation_p.S562F	NM_005095.2	NP_005086.2	Q5VZL5	ZMYM4_HUMAN	zinc finger, MYM-type 4	651					multicellular organismal development		DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2)	54		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GGTAGCACATCTGCTGTTTCT	0.537000													14	22					0	0	0.002450	0	0
INPP5B	3633	broad.mit.edu	37	1	38339795	38339795	+	Silent	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:38339795C>T	ENST00000373023.2	-	18	2154	c.2061G>A	c.(2059-2061)ttG>ttA	p.L687L	INPP5B_ENST00000373027.1_Silent_p.L443L|INPP5B_ENST00000458109.2_3'UTR|INPP5B_ENST00000373024.3_Silent_p.L607L|INPP5B_ENST00000373026.1_Silent_p.L687L	NM_005540.2	NP_005531.2	P32019	I5P2_HUMAN	inositol polyphosphate-5-phosphatase, 75kDa	687					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to membrane|microtubule cytoskeleton	GTPase activator activity|inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding			breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(9)|urinary_tract(1)	15	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				ATTCTACTTTCAATTGCATGT	0.453000													9	31					0	0	0.008291	0	0
ENY2	56943	broad.mit.edu	37	8	110355686	110355686	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr8:110355686C>A	ENST00000521688.1	+	5	427	c.282C>A	c.(280-282)ttC>ttA	p.F94L	ENY2_ENST00000521662.1_Missense_Mutation_p.F89L|ENY2_ENST00000522407.1_3'UTR|ENY2_ENST00000520147.1_3'UTR	NM_001193557.1|NM_020189.5	NP_001180486.1|NP_064574.1	Q9NPA8	ENY2_HUMAN	enhancer of yellow 2 homolog (Drosophila)	94					histone deubiquitination|mRNA transport|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	SAGA complex	ligand-dependent nuclear receptor transcription coactivator activity			endometrium(2)|large_intestine(1)|lung(1)	4	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;9.05e-13)			TAAGAACATTCCTTGCTCAGC	0.328000													39	57					1.02591e-13	1.55155e-13	0.002522	1	0
CCNF	899	broad.mit.edu	37	16	2489405	2489405	+	Nonsense_Mutation	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr16:2489405C>T	ENST00000397066.4	+	7	734	c.646C>T	c.(646-648)Cag>Tag	p.Q216*		NM_001761.2	NP_001752.2	P41002	CCNF_HUMAN	cyclin F	216					cell division|mitosis|negative regulation of centrosome duplication|protein ubiquitination|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	centriole|nucleus|SCF ubiquitin ligase complex	protein binding			breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(2)|lung(5)|prostate(4)|skin(1)	20		Ovarian(90;0.17)				GGCTGCTCATCAGGGATGTCT	0.522000													6	9					0	0	0.001984	0	0
S1PR5	53637	broad.mit.edu	37	19	10625538	10625538	+	Silent	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr19:10625538G>A	ENST00000439028.3	-	2	275	c.150C>T	c.(148-150)atC>atT	p.I50I	S1PR5_ENST00000333430.4_Silent_p.I50I	NM_001166215.1	NP_001159687.1	Q9H228	S1PR5_HUMAN	sphingosine-1-phosphate receptor 5	50						integral to membrane|plasma membrane	lysosphingolipid and lysophosphatidic acid receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	12						TCTCTAGCACGATGAAGGCGC	0.662000													11	6					0	0	0.008291	0	0
MOSPD1	56180	broad.mit.edu	37	X	134025544	134025544	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chrX:134025544C>A	ENST00000370783.3	-	5	761	c.575G>T	c.(574-576)aGt>aTt	p.S192I	MOSPD1_ENST00000370777.1_Missense_Mutation_p.S193I|MOSPD1_ENST00000370779.4_Intron|MOSPD1_ENST00000491609.1_5'UTR	NM_019556.1	NP_062456.1	Q9UJG1	MSPD1_HUMAN	motile sperm domain containing 1	192					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter	integral to membrane|nucleus|perinuclear region of cytoplasm	structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(1)|ovary(1)	9	Acute lymphoblastic leukemia(192;0.000127)					TTGATTCACACTTAAGTGGAG	0.468000													38	98					4.0492e-12	5.84088e-12	0.006999	1	0
LRP1B	53353	broad.mit.edu	37	2	142012104	142012104	+	Silent	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr2:142012104C>A	ENST00000389484.3	-	4	1421	c.450G>T	c.(448-450)ggG>ggT	p.G150G		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	150	EGF-like 1.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TACAGCTTCTCCCATCTTCTG	0.353000										TSP Lung(27;0.18)			20	34					3.8784e-16	6.22497e-16	0.001882	1	0
RNF2	6045	broad.mit.edu	37	1	185068982	185068982	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:185068982G>A	ENST00000367510.3	+	6	1085	c.797G>A	c.(796-798)aGg>aAg	p.R266K	RNF2_ENST00000367509.4_Missense_Mutation_p.R194K	NM_007212.3	NP_009143.1	Q99496	RING2_HUMAN	ring finger protein 2	266					histone H2A monoubiquitination|transcription, DNA-dependent	MLL1 complex|PcG protein complex|ubiquitin ligase complex	RING-like zinc finger domain binding|zinc ion binding			breast(3)|endometrium(2)|large_intestine(4)|lung(3)|skin(2)	14		Breast(1374;0.000496)		Colorectal(1306;6.9e-08)|KIRC - Kidney renal clear cell carcinoma(1967;8.12e-06)		CTGGCTGTGAGGTTAGCTTTA	0.363000													19	53					0	0	0.010504	0	0
MRPS35	60488	broad.mit.edu	37	12	27908184	27908184	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr12:27908184C>T	ENST00000081029.3	+	8	844	c.773C>T	c.(772-774)tCa>tTa	p.S258L	MRPS35_ENST00000538315.1_3'UTR	NM_021821.3	NP_068593.2	P82673	RT35_HUMAN	mitochondrial ribosomal protein S35	258					DNA damage response, detection of DNA damage	mitochondrial small ribosomal subunit				breast(1)|endometrium(1)|kidney(1)|lung(2)|urinary_tract(1)	6	Lung SC(9;0.0873)					AATAGCTCATCAGAAAGAAAT	0.333000													16	90					0	0	0.004007	0	0
COL19A1	1310	broad.mit.edu	37	6	70873262	70873262	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr6:70873262G>T	ENST00000322773.4	+	36	2476	c.2374G>T	c.(2374-2376)Ggt>Tgt	p.G792C	COL19A1_ENST00000393344.1_Missense_Mutation_p.G414C	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	792	Triple-helical region 4 (COL4).				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						TGGACATCCTGGTCCCACAGG	0.438000													10	17					6.40141e-05	7.20711e-05	0.000978	1	0
HIST1H2BN	8341	broad.mit.edu	37	6	27806487	27806487	+	Silent	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr6:27806487G>A	ENST00000606613.1	+	1	109	c.48G>A	c.(46-48)aaG>aaA	p.K16K	HIST1H2BN_ENST00000396980.3_Silent_p.K16K			Q99877	H2B1N_HUMAN	histone cluster 1, H2bn	16					nucleosome assembly	nucleosome|nucleus	DNA binding			central_nervous_system(1)|endometrium(3)|lung(3)|prostate(1)	8						AAGGCTCCAAGAAGGCAGTGA	0.562000													30	149					0	0	0.007291	0	0
CLDN18	51208	broad.mit.edu	37	3	137742562	137742562	+	Silent	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr3:137742562C>T	ENST00000183605.5	+	2	509	c.283C>T	c.(283-285)Ctg>Ttg	p.L95L	CLDN18_ENST00000343735.4_Silent_p.L95L	NM_016369.3	NP_057453.1	P56856	CLD18_HUMAN	claudin 18	95					calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity			endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	6						CATTGGCCTCCTGGTATCCAT	0.547000													39	31					0	0	0.005524	0	0
OR4C15	81309	broad.mit.edu	37	11	55322514	55322514	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr11:55322514T>A	ENST00000314644.2	+	1	732	c.732T>A	c.(730-732)gaT>gaA	p.D244E		NM_001001920.1	NP_001001920.1	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C, member 15	190					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						CCTGCACTGATACTCACATCT	0.438000										HNSCC(20;0.049)			11	24					0	0	0.008291	0	0
FNTA	2339	broad.mit.edu	37	8	42940002	42940002	+	Missense_Mutation	SNP	A	A	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr8:42940002A>T	ENST00000529687.1	+	8	1430	c.542A>T	c.(541-543)gAc>gTc	p.D181V	FNTA_ENST00000342116.4_Missense_Mutation_p.D265V|FNTA_ENST00000302279.3_Missense_Mutation_p.D332V			P49354	FNTA_HUMAN	farnesyltransferase, CAAX box, alpha	332					cellular component disassembly involved in apoptosis|positive regulation of deacetylase activity|positive regulation of tubulin deacetylation|protein farnesylation|protein geranylgeranylation|transforming growth factor beta receptor signaling pathway	cytosol|microtubule associated complex	alpha-tubulin binding|CAAX-protein geranylgeranyltransferase activity|microtubule binding|protein farnesyltransferase activity			cervix(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	16	Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184)	all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17)			AATAAGGAAGACATTCTTAAT	0.393000													49	55					0	0	0.003610	0	0
SPOCK3	50859	broad.mit.edu	37	4	167656143	167656143	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr4:167656143C>T	ENST00000357154.3	-	12	1377	c.1240G>A	c.(1240-1242)Gaa>Aaa	p.E414K	SPOCK3_ENST00000506886.1_Missense_Mutation_p.E414K|SPOCK3_ENST00000541354.1_Missense_Mutation_p.E294K|SPOCK3_ENST00000512681.1_Missense_Mutation_p.E316K|SPOCK3_ENST00000504953.1_Missense_Mutation_p.E411K|SPOCK3_ENST00000511269.1_Missense_Mutation_p.E411K|SPOCK3_ENST00000535728.1_Missense_Mutation_p.E282K|SPOCK3_ENST00000511531.1_Missense_Mutation_p.E414K|SPOCK3_ENST00000534949.1_Missense_Mutation_p.E318K|SPOCK3_ENST00000357545.4_Missense_Mutation_p.E411K|SPOCK3_ENST00000502330.1_Missense_Mutation_p.E414K|SPOCK3_ENST00000507137.1_5'UTR|SPOCK3_ENST00000510741.1_Missense_Mutation_p.E371K|SPOCK3_ENST00000421836.2_Missense_Mutation_p.E363K|SPOCK3_ENST00000541637.1_Missense_Mutation_p.E316K	NM_016950.2	NP_058646.2	Q9BQ16	TICN3_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3	414	Asp-rich.				signal transduction	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase inhibitor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	38	all_hematologic(180;0.221)	Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198)		GBM - Glioblastoma multiforme(119;0.02)		tcttcaatttcatcttcatca	0.353000													9	24					0	0	0.004482	0	0
ERCC2	2068	broad.mit.edu	37	19	45858052	45858052	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr19:45858052C>T	ENST00000391945.4	-	17	1678	c.1601G>A	c.(1600-1602)gGc>gAc	p.G534D	ERCC2_ENST00000391944.3_Missense_Mutation_p.G456D	NM_000400.3	NP_000391.1	P18074	ERCC2_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 2	534	Mediates interaction with MMS19.				cell cycle checkpoint|chromosome segregation|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|UV protection|viral reproduction	cytoplasm|holo TFIIH complex|MMXD complex	5'-3' DNA helicase activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding|protein C-terminus binding|protein N-terminus binding			large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|stomach(1)	9		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		GGCCACGATGCCATCAGGGAC	0.627000			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				92	54					0	0	0.003610	0	0
LSS	4047	broad.mit.edu	37	21	47636393	47636393	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr21:47636393G>T	ENST00000397728.3	-	7	771	c.693C>A	c.(691-693)tgC>tgA	p.C231*	LSS_ENST00000356396.4_Nonsense_Mutation_p.C231*|LSS_ENST00000522411.1_Nonsense_Mutation_p.C220*|LSS_ENST00000457828.2_Nonsense_Mutation_p.C151*|LSS_ENST00000464357.1_5'UTR	NM_001145436.1|NM_002340.5	NP_001138908.1|NP_002331.3	P48449	ERG7_HUMAN	lanosterol synthase (2,3-oxidosqualene-lanosterol cyclase)	231					cholesterol biosynthetic process	endoplasmic reticulum membrane	lanosterol synthase activity			cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|skin(1)|urinary_tract(1)	21	Breast(49;0.214)					GCCGGCAGTGGCACCAGAGTG	0.662000													3	16					0.004672	0.00492372	0.004672	1	0
OR10J3	441911	broad.mit.edu	37	1	159284388	159284388	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:159284388C>A	ENST00000332217.5	-	1	61	c.62G>T	c.(61-63)aGg>aTg	p.R21M		NM_001004467.1	NP_001004467.1	Q5JRS4	O10J3_HUMAN	olfactory receptor, family 10, subfamily J, member 3	21					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	47	all_hematologic(112;0.0429)					GTGCTGCCGCCTGAAGCTGGA	0.448000													48	102					2.81731e-22	5.03409e-22	0.003610	1	0
TSPYL1	7259	broad.mit.edu	37	6	116600489	116600489	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr6:116600489C>T	ENST00000368608.3	-	1	577	c.505G>A	c.(505-507)Gag>Aag	p.E169K	DSE_ENST00000540275.1_Intron	NM_003309.3	NP_003300.1	Q9H0U9	TSYL1_HUMAN	TSPY-like 1	169					nucleosome assembly	nucleolus				breast(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(3)|urinary_tract(1)	11		all_cancers(87;0.0144)|all_epithelial(87;0.021)|Colorectal(196;0.234)		all cancers(137;0.0235)|OV - Ovarian serous cystadenocarcinoma(136;0.0469)|GBM - Glioblastoma multiforme(226;0.0503)|Epithelial(106;0.094)		CTCTCCCTCTCAGCCACGGCT	0.637000													10	52					0	0	0.000978	0	0
FICD	11153	broad.mit.edu	37	12	108910758	108910758	+	Silent	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr12:108910758C>A	ENST00000552695.1	+	2	244	c.9C>A	c.(7-9)ctC>ctA	p.L3L	FICD_ENST00000361549.2_Silent_p.L3L|FICD_ENST00000552758.1_Silent_p.L3L	NM_007076.2	NP_009007.2	Q9BVA6	FICD_HUMAN	FIC domain containing	3					negative regulation of Rho GTPase activity	integral to membrane	binding|protein adenylyltransferase activity			NS(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(1)|prostate(1)|upper_aerodigestive_tract(2)	15						AGATGATGCTCATACCAATGG	0.592000													16	43					9.16793e-09	1.19656e-08	0.004990	1	0
MFAP3L	9848	broad.mit.edu	37	4	170912639	170912639	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr4:170912639T>A	ENST00000361618.3	-	3	1427	c.1120A>T	c.(1120-1122)Aca>Tca	p.T374S	MFAP3L_ENST00000393704.3_Missense_Mutation_p.T271S|RP11-6E9.4_ENST00000508955.1_RNA	NM_021647.6	NP_067679.6	O75121	MFA3L_HUMAN	microfibrillar-associated protein 3-like	374						integral to membrane|plasma membrane				cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		Prostate(90;0.00601)|Renal(120;0.0183)|all_neural(102;0.122)|Melanoma(52;0.17)		GBM - Glioblastoma multiforme(119;0.0201)|LUSC - Lung squamous cell carcinoma(193;0.116)		TCAACAGGTGTTGGCTCTTCA	0.502000													41	38					0	0	0.007835	0	0
OR4D6	219983	broad.mit.edu	37	11	59224722	59224722	+	Missense_Mutation	SNP	T	T	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr11:59224722T>G	ENST00000300127.2	+	1	312	c.289T>G	c.(289-291)Tgc>Ggc	p.C97G		NM_001004708.1	NP_001004708.1	Q8NGJ1	OR4D6_HUMAN	olfactory receptor, family 4, subfamily D, member 6	97					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	34						CTACAATGACTGCATGGCACA	0.463000													39	101					0	0	0.007835	0	0
MDN1	23195	broad.mit.edu	37	6	90457071	90457071	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr6:90457071C>G	ENST00000369393.3	-	27	3996	c.3881G>C	c.(3880-3882)tGg>tCg	p.W1294S	MDN1_ENST00000428876.1_Missense_Mutation_p.W1294S			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	1294					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		ATGCTGTAGCCAGTCATACTC	0.408000													9	35					0	0	0.000978	0	0
STK36	27148	broad.mit.edu	37	2	219544765	219544765	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr2:219544765G>T	ENST00000295709.3	+	9	1377	c.1098G>T	c.(1096-1098)tgG>tgT	p.W366C	STK36_ENST00000392106.2_Missense_Mutation_p.W366C|STK36_ENST00000440309.1_Missense_Mutation_p.W366C|STK36_ENST00000392105.3_Missense_Mutation_p.W366C	NM_015690.4	NP_056505.2	Q9NRP7	STK36_HUMAN	serine/threonine kinase 36	366					cilium assembly|positive regulation of hh target transcription factor activity|positive regulation of smoothened signaling pathway|post-embryonic development	aggresome|cytoplasm|focal adhesion|intermediate filament cytoskeleton|nucleus	ATP binding|protein serine/threonine kinase activity|transcription factor binding			biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(20)|ovary(4)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	52		Renal(207;0.0915)		Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984)		AGAGCAGCTGGGCTAAATCAG	0.562000													21	89					4.4004e-07	5.35717e-07	0.003330	1	0
OR2G3	81469	broad.mit.edu	37	1	247769203	247769203	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:247769203G>T	ENST00000320002.2	+	1	348	c.316G>T	c.(316-318)Gca>Tca	p.A106S	RP11-978I15.10_ENST00000446347.1_RNA|RP11-978I15.10_ENST00000435333.1_RNA	NM_001001914.1	NP_001001914.1	Q8NGZ4	OR2G3_HUMAN	olfactory receptor, family 2, subfamily G, member 3	106					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(31)|skin(5)	50	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			TATTTCTCTGGCACTGGGCTC	0.488000													51	156					1.54886e-18	2.62171e-18	0.003610	1	0
INPP5B	3633	broad.mit.edu	37	1	38397563	38397563	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:38397563T>A	ENST00000373023.2	-	7	647	c.554A>T	c.(553-555)aAa>aTa	p.K185I	INPP5B_ENST00000373021.1_Missense_Mutation_p.K185I|INPP5B_ENST00000373024.3_Intron|INPP5B_ENST00000373026.1_Missense_Mutation_p.K185I	NM_005540.2	NP_005531.2	P32019	I5P2_HUMAN	inositol polyphosphate-5-phosphatase, 75kDa	185					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to membrane|microtubule cytoskeleton	GTPase activator activity|inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding			breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(9)|urinary_tract(1)	15	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				TCCCCACCGTTTCTTCCGGGA	0.637000													11	82					0	0	0.002450	0	0
TXNDC16	57544	broad.mit.edu	37	14	52907281	52907281	+	Splice_Site	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr14:52907281C>A	ENST00000281741.4	-	19	2375		c.e19+1		TXNDC16_ENST00000554399.1_Splice_Site	NM_001160047.1|NM_020784.2	NP_001153519.1|NP_065835.2	Q9P2K2	TXD16_HUMAN	thioredoxin domain containing 16						cell redox homeostasis	extracellular region				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(3)|skin(1)	21	Breast(41;0.0716)					CACATACTTACAGATTTAACC	0.294000													5	22					1.23904e-05	1.43011e-05	0.000602	1	0
TGM6	343641	broad.mit.edu	37	20	2375157	2375157	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr20:2375157C>A	ENST00000202625.2	+	2	128	c.67C>A	c.(67-69)Cag>Aag	p.Q23K	TGM6_ENST00000477505.1_3'UTR|TGM6_ENST00000381423.1_Missense_Mutation_p.Q23K	NM_198994.2	NP_945345.2	O95932	TGM3L_HUMAN	transglutaminase 6	23					cell death|peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52					L-Glutamine(DB00130)	CCACCACACCCAGGAGTACCC	0.642000													8	16					0.000274275	0.000301394	0.004482	1	0
H2BFWT	158983	broad.mit.edu	37	X	103268102	103268102	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chrX:103268102G>C	ENST00000217926.5	-	1	157	c.131C>G	c.(130-132)aCc>aGc	p.T44S		NM_001002916.3	NP_001002916.2	Q7Z2G1	H2BWT_HUMAN	H2B histone family, member W, testis-specific	44					nucleosome assembly	nuclear membrane|nucleosome	DNA binding			breast(2)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	16						GGGCTCCTGGGTGATCAGCTG	0.627000													14	23					0	0	0.002450	0	0
CSPG4	1464	broad.mit.edu	37	15	75981642	75981642	+	Silent	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr15:75981642C>T	ENST00000308508.5	-	3	1856	c.1764G>A	c.(1762-1764)gaG>gaA	p.E588E		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	588	Globular or compact configuration stabilized by disulfide bonds.|Interaction with COL6A2 (By similarity).|Neurite growth inhibition (By similarity).				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						AGGTGAGGCCCTCACAGGCAG	0.652000													3	23					0	0	0.004672	0	0
POM121C	100101267	broad.mit.edu	37	7	75051125	75051125	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr7:75051125C>G	ENST00000453279.2	-	13	3274	c.2410G>C	c.(2410-2412)Ggt>Cgt	p.G804R	POM121C_ENST00000257665.5_Missense_Mutation_p.G1046R	NM_001099415.1	NP_001092885.1	A8CG34	P121C_HUMAN	POM121 transmembrane nucleoporin C	1046	Pore side (Potential).|Thr-rich.				mRNA transport|protein transport|transmembrane transport	endoplasmic reticulum membrane|nuclear membrane|nuclear pore	protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14						GTGGCTGCACCGAAGGAGAAG	0.647000													8	56					0	0	0.000978	0	0
OR13A1	79290	broad.mit.edu	37	10	45799695	45799695	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr10:45799695C>A	ENST00000553795.1	-	4	484	c.176G>T	c.(175-177)gGt>gTt	p.G59V	OR13A1_ENST00000536058.1_Missense_Mutation_p.G59V|OR13A1_ENST00000374401.2_Missense_Mutation_p.G59V	NM_001004297.2	NP_001004297.2	Q8NGR1	O13A1_HUMAN	olfactory receptor, family 13, subfamily A, member 1	59					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(2)|urinary_tract(1)	19						GAGGACATTACCTGTGAGGGC	0.502000													11	30					2.27111e-07	2.79507e-07	0.001368	1	0
KCNH5	27133	broad.mit.edu	37	14	63417143	63417143	+	Silent	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr14:63417143C>T	ENST00000322893.7	-	7	1345	c.1077G>A	c.(1075-1077)gtG>gtA	p.V359V	KCNH5_ENST00000420622.2_Silent_p.V359V|KCNH5_ENST00000394968.1_Silent_p.V301V|KCNH5_ENST00000394964.2_Silent_p.V301V	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	359					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		GCCAGTGGGCCACCAGTCCAA	0.527000													16	47					0	0	0.006122	0	0
LCT	3938	broad.mit.edu	37	2	136575090	136575090	+	Missense_Mutation	SNP	A	A	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr2:136575090A>T	ENST00000264162.2	-	6	1538	c.1528T>A	c.(1528-1530)Tgg>Agg	p.W510R		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	510	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		TCATTCTGCCATCCACCATGA	0.587000													12	36					0	0	0.001368	0	0
RYR2	6262	broad.mit.edu	37	1	237947958	237947958	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:237947958G>T	ENST00000366574.2	+	90	13263	c.12946G>T	c.(12946-12948)Gga>Tga	p.G4316*	RYR2_ENST00000542537.1_Nonsense_Mutation_p.G4300*|RYR2_ENST00000360064.6_Nonsense_Mutation_p.G4322*	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4316					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GCTGCTTGGGGGAAGCCTCGT	0.507000													25	43					2.21704e-12	3.21382e-12	0.002780	1	0
DCAF12L1	139170	broad.mit.edu	37	X	125686465	125686465	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chrX:125686465T>A	ENST00000371126.1	-	1	369	c.127A>T	c.(127-129)Agg>Tgg	p.R43W		NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	43										breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						GCCGGCCGCCTCTGCCTCTTG	0.711000													11	49					0	0	0.002450	0	0
KRT84	3890	broad.mit.edu	37	12	52777468	52777468	+	Silent	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr12:52777468G>A	ENST00000257951.3	-	2	727	c.661C>T	c.(661-663)Ctg>Ttg	p.L221L	RP3-416H24.4_ENST00000547174.1_RNA	NM_033045.3	NP_149034.2	Q9NSB2	KRT84_HUMAN	keratin 84	221	Coil 1B.|Rod.					keratin filament	structural constituent of epidermis			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(10)|skin(3)	27	all_hematologic(5;0.12)			BRCA - Breast invasive adenocarcinoma(357;0.189)		TGCCTCCGCAGGTTGGTGATG	0.547000													25	42					0	0	0.006320	0	0
SDE2	163859	broad.mit.edu	37	1	226175779	226175779	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:226175779C>A	ENST00000272091.7	-	6	970	c.952G>T	c.(952-954)Gag>Tag	p.E318*	SDE2_ENST00000366817.1_Nonsense_Mutation_p.E223*	NM_152608.3	NP_689821.3			SDE2 telomere maintenance homolog (S. pombe)																		TCCTGGGTCTCTTCTGTTTCT	0.498000													31	93					1.99505e-19	3.4271e-19	0.002445	1	0
C1orf95	375057	broad.mit.edu	37	1	226784513	226784513	+	Silent	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:226784513C>A	ENST00000366789.4	+	2	318	c.213C>A	c.(211-213)gtC>gtA	p.V71V	C1orf95_ENST00000366788.3_Silent_p.V71V			Q69YW2	CA095_HUMAN	chromosome 1 open reading frame 95	71						integral to membrane				large_intestine(1)|lung(4)|ovary(3)	8	Breast(184;0.133)	Prostate(94;0.0885)		GBM - Glioblastoma multiforme(131;0.113)		GGACATTCGTCTCGGCCTTCA	0.627000													23	76					2.41591e-17	3.95993e-17	0.004656	1	0
PTGIS	5740	broad.mit.edu	37	20	48129705	48129705	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr20:48129705C>T	ENST00000244043.4	-	8	1147	c.1118G>A	c.(1117-1119)cGa>cAa	p.R373Q	PTGIS_ENST00000478971.1_5'UTR	NM_000961.3	NP_000952.1	Q16647	PTGIS_HUMAN	prostaglandin I2 (prostacyclin) synthase	373					hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|prostaglandin-I synthase activity			endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|ovary(3)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	27			BRCA - Breast invasive adenocarcinoma(12;2.37e-05)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		Phenylbutazone(DB00812)	GTTGAATTCTCGCCCGTCTGC	0.602000													33	92					0	0	0.003271	0	0
SCYL2	55681	broad.mit.edu	37	12	100731216	100731216	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr12:100731216G>T	ENST00000360820.2	+	17	2514	c.2077G>T	c.(2077-2079)Gca>Tca	p.A693S		NM_017988.4	NP_060458.3	Q6P3W7	SCYL2_HUMAN	SCY1-like 2 (S. cerevisiae)	693					endosome to lysosome transport|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of clathrin-mediated endocytosis|positive regulation of receptor internalization	clathrin-coated vesicle|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|protein kinase activity|receptor binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(4)|lung(15)|ovary(2)|skin(1)	41						ACAAGAGCAGGCACAGAAGCT	0.373000													58	29					7.92265e-33	1.50942e-32	0.003610	1	0
CTSG	1511	broad.mit.edu	37	14	25042851	25042851	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr14:25042851G>T	ENST00000216336.2	-	5	796	c.760C>A	c.(760-762)Ccc>Acc	p.P254T		NM_001911.2	NP_001902.1	P08311	CATG_HUMAN	cathepsin G	254					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)		AGTCACAGGGGGGTCTCCATC	0.498000													57	190					8.77104e-35	1.67978e-34	0.003610	1	0
CACNA1D	776	broad.mit.edu	37	3	53699724	53699724	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr3:53699724G>T	ENST00000288139.3	+	6	922	c.804G>T	c.(802-804)atG>atT	p.M268I	CACNA1D_ENST00000422281.2_Missense_Mutation_p.M268I|CACNA1D_ENST00000350061.5_Missense_Mutation_p.M268I	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	268					axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	TAAAAGCCATGGTTCCCCTCC	0.333000													34	31					9.8876e-21	1.73092e-20	0.004878	1	0
NID1	4811	broad.mit.edu	37	1	236205413	236205413	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:236205413G>A	ENST00000264187.6	-	4	1014	c.932C>T	c.(931-933)aCg>aTg	p.T311M	NID1_ENST00000366595.3_Missense_Mutation_p.T311M	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	311					cell-matrix adhesion	basement membrane	calcium ion binding			breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Becaplermin(DB00102)|Urokinase(DB00013)	GGAGAAGGGCGTGGTGCCCAC	0.597000													65	54					0	0	0.003610	0	0
SPNS2	124976	broad.mit.edu	37	17	4436619	4436619	+	Silent	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr17:4436619G>A	ENST00000329078.3	+	8	1380	c.1170G>A	c.(1168-1170)ctG>ctA	p.L390L		NM_001124758.1	NP_001118230.1	Q8IVW8	SPNS2_HUMAN	spinster homolog 2 (Drosophila)	390					lipid transport|transmembrane transport	integral to membrane				large_intestine(3)|lung(1)|prostate(1)|skin(1)	6						GGTGCCGCCTGAAGACCCAGC	0.637000													5	24					0	0	0.001168	0	0
GPR137B	7107	broad.mit.edu	37	1	236306325	236306325	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:236306325T>A	ENST00000366592.3	+	1	494	c.403T>A	c.(403-405)Tac>Aac	p.Y135N	GPR137B_ENST00000366591.4_Missense_Mutation_p.Y135N	NM_003272.3	NP_003263.1	O60478	G137B_HUMAN	G protein-coupled receptor 137B	135						integral to plasma membrane|membrane fraction				endometrium(2)|large_intestine(1)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.197)|Prostate(94;0.219)|Acute lymphoblastic leukemia(190;0.226)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)			GATGAACTTGTACTTCACGCA	0.647000													10	82					0	0	0.000978	0	0
CCKBR	887	broad.mit.edu	37	11	6292659	6292659	+	Silent	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr11:6292659C>A	ENST00000525462.1	+	4	1440	c.1437C>A	c.(1435-1437)ccC>ccA	p.P479P	CCKBR_ENST00000532715.1_Silent_p.P326P|CCKBR_ENST00000334619.2_Silent_p.P410P			P32239	GASR_HUMAN	cholecystokinin B receptor	410					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cell proliferation|digestion|elevation of cytosolic calcium ion concentration|feeding behavior|positive regulation of cell proliferation|sensory perception		1-phosphatidylinositol-3-kinase regulator activity|gastrin receptor activity|phosphatidylinositol phospholipase C activity|type B gastrin/cholecystokinin receptor binding			NS(2)|breast(2)|endometrium(4)|kidney(13)|large_intestine(10)|lung(22)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	Pentagastrin(DB00183)	GCTGCTGCCCCCGGCCTCCAC	0.642000													21	48					4.35082e-09	5.73463e-09	0.010504	1	0
UBA6	55236	broad.mit.edu	37	4	68504713	68504713	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr4:68504713C>A	ENST00000322244.4	-	19	1743	c.1684G>T	c.(1684-1686)Gat>Tat	p.D562Y		NM_018227.5	NP_060697.4	A0AVT1	UBA6_HUMAN	ubiquitin-like modifier activating enzyme 6	562					protein ubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm	ATP binding|FAT10 activating enzyme activity|ligase activity|protein binding			central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(6)|liver(1)|lung(23)|skin(2)|upper_aerodigestive_tract(2)	44						ATAATTACATCTTGTTTAGTA	0.333000													27	50					9.80776e-20	1.68873e-19	0.006320	1	0
HRNR	388697	broad.mit.edu	37	1	152191918	152191918	+	Missense_Mutation	SNP	G	G	T	rs146453724	byFrequency	TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:152191918G>T	ENST00000368801.2	-	3	2262	c.2187C>A	c.(2185-2187)caC>caA	p.H729Q	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	729					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ACCTAGAGCCGTGTTTTCTGT	0.537000													95	161					3.07327e-39	5.96361e-39	0.003610	1	0
PLEKHG3	26030	broad.mit.edu	37	14	65198849	65198849	+	Missense_Mutation	SNP	C	C	T	rs142732386	byFrequency	TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr14:65198849C>T	ENST00000247226.7	+	8	1302	c.994C>T	c.(994-996)Cac>Tac	p.H332Y	PLEKHG3_ENST00000394691.1_Missense_Mutation_p.H388Y	NM_015549.1	NP_056364.1	A1L390	PKHG3_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 3	388	PH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2)	29				all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)		CTGGACTCACCACATCAAGAG	0.547000													11	28					0	0	0.000978	0	0
RDH8	50700	broad.mit.edu	37	19	10132014	10132014	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr19:10132014G>A	ENST00000591589.1	+	5	869	c.680G>A	c.(679-681)gGc>gAc	p.G227D	RDH8_ENST00000171214.1_Missense_Mutation_p.G207D			Q9NYR8	RDH8_HUMAN	retinol dehydrogenase 8 (all-trans)	207					estrogen biosynthetic process|response to stimulus|visual perception	cytoplasm|integral to plasma membrane	binding|estradiol 17-beta-dehydrogenase activity|NADP-retinol dehydrogenase activity|retinol dehydrogenase activity			endometrium(3)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|prostate(1)	21			Epithelial(33;4.24e-05)		Vitamin A(DB00162)	GAGTTCCCAGGCACTGACCCT	0.612000													57	23					0	0	0.003610	0	0
KANK4	163782	broad.mit.edu	37	1	62732417	62732417	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:62732417G>T	ENST00000371153.4	-	6	2684	c.2306C>A	c.(2305-2307)aCa>aAa	p.T769K	KANK4_ENST00000354381.3_Missense_Mutation_p.T141K|KANK4_ENST00000371150.1_Missense_Mutation_p.T125K	NM_181712.4	NP_859063.3	Q5T7N3	KANK4_HUMAN	KN motif and ankyrin repeat domains 4	769										NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						GAGCTGGTCTGTGGTGGTCCC	0.423000													26	50					2.61193e-14	4.01226e-14	0.009535	1	0
PKD1L1	168507	broad.mit.edu	37	7	47852827	47852827	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr7:47852827C>A	ENST00000289672.2	-	49	7288	c.7238G>T	c.(7237-7239)gGc>gTc	p.G2413V	C7orf69_ENST00000418326.2_Intron|C7orf69_ENST00000258776.4_Intron	NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	2413					cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						GTTCTCAGGGCCTCCAACTTC	0.547000													37	26					1.30998e-17	2.16657e-17	0.005524	1	0
ZNF644	84146	broad.mit.edu	37	1	91403085	91403085	+	Silent	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:91403085C>A	ENST00000370440.1	-	4	3862	c.3645G>T	c.(3643-3645)ccG>ccT	p.P1215P	ZNF644_ENST00000337393.5_Silent_p.P1215P|ZNF644_ENST00000467231.1_Intron|ZNF644_ENST00000361321.5_Intron|ZNF644_ENST00000347275.5_Intron			Q9H582	ZN644_HUMAN	zinc finger protein 644	1215					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	47		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		GATACATCAACGGACTATCCT	0.373000													22	52					2.39556e-15	3.76263e-15	0.002780	1	0
DSC2	1824	broad.mit.edu	37	18	28667691	28667691	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr18:28667691T>A	ENST00000280904.6	-	6	1159	c.716A>T	c.(715-717)aAc>aTc	p.N239I	DSC2_ENST00000251081.6_Missense_Mutation_p.N239I	NM_024422.3	NP_077740.1	Q02487	DSC2_HUMAN	desmocollin 2	239	Cadherin 1.				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			AATTGGGTAGTTATCATTTTC	0.343000													29	61					0	0	0.006320	0	0
SYNE1	23345	broad.mit.edu	37	6	152949440	152949440	+	Silent	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr6:152949440C>A	ENST00000367255.5	-	3	628	c.27G>T	c.(25-27)cgG>cgT	p.R9R	SYNE1_ENST00000448038.1_Silent_p.R9R|SYNE1_ENST00000413186.2_Silent_p.R9R|SYNE1_ENST00000265368.4_Silent_p.R9R|SYNE1_ENST00000466159.2_Silent_p.R9R|SYNE1_ENST00000367248.3_Silent_p.R9R|SYNE1_ENST00000367253.4_Silent_p.R9R|SYNE1_ENST00000423061.1_Silent_p.R9R|SYNE1_ENST00000341594.5_Silent_p.R9R	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	9	Actin-binding.				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CCCGAGGACACCGGGAGGCCC	0.517000										HNSCC(10;0.0054)			29	74					5.6714e-07	6.88168e-07	0.002096	1	0
ABCB1	5243	broad.mit.edu	37	7	87148649	87148649	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr7:87148649C>A	ENST00000265724.3	-	24	3337	c.2920G>T	c.(2920-2922)Gtt>Ttt	p.V974F	ABCB1_ENST00000488737.2_5'UTR|ABCB1_ENST00000543898.1_Missense_Mutation_p.V910F	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	974	ABC transmembrane type-1 2.				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	TACAACAGAACATCCTCAAAG	0.403000													21	26					7.45023e-12	1.06629e-11	0.010504	1	0
TTN	7273	broad.mit.edu	37	2	179574576	179574576	+	Silent	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr2:179574576G>A	ENST00000589042.1	-	99	28694	c.28470C>T	c.(28468-28470)ctC>ctT	p.L9490L	TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Silent_p.L9173L|TTN_ENST00000342992.6_Silent_p.L8246L|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	9173							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTGGTGGGATGAGCCGCTCTA	0.373000													20	69					0	0	0.001882	0	0
FAM47C	442444	broad.mit.edu	37	X	37027912	37027912	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chrX:37027912G>T	ENST00000358047.3	+	1	1481	c.1429G>T	c.(1429-1431)Gag>Tag	p.E477*		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	477										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						TCTCTGCCCGGAGCCTCCAGA	0.617000													27	76					4.59853e-10	6.19471e-10	0.005443	1	0
PCDHA5	56143	broad.mit.edu	37	5	140202807	140202807	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr5:140202807G>C	ENST00000529859.1	+	1	1447	c.1447G>C	c.(1447-1449)Gcg>Ccg	p.A483P	PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Missense_Mutation_p.A483P|PCDHA5_ENST00000378126.3_Missense_Mutation_p.A483P|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018908.2	NP_061731.1														NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGACGCGGACGCGCAGGAGAA	0.667000													12	56					0	0	0.001855	0	0
FAM71D	161142	broad.mit.edu	37	14	67664975	67664975	+	Missense_Mutation	SNP	T	T	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr14:67664975T>G	ENST00000556046.1	+	3	321	c.97T>G	c.(97-99)Ttg>Gtg	p.L33V				Q8N9W8	FA71D_HUMAN	family with sequence similarity 71, member D	33										breast(1)|endometrium(1)|large_intestine(1)|lung(9)|ovary(1)	13		all_hematologic(31;0.0116)		all cancers(60;0.00107)|BRCA - Breast invasive adenocarcinoma(234;0.00993)|OV - Ovarian serous cystadenocarcinoma(108;0.012)		TCAAAATATGTTGGATGGAGG	0.433000													16	62					0	0	0.004990	0	0
ATP7B	540	broad.mit.edu	37	13	52513223	52513223	+	Silent	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr13:52513223C>A	ENST00000242839.4	-	17	3819	c.3663G>T	c.(3661-3663)ggG>ggT	p.G1221G	ATP7B_ENST00000400370.3_Silent_p.G791G|ATP7B_ENST00000344297.5_Silent_p.G1014G|ATP7B_ENST00000417240.2_Silent_p.G432G|ATP7B_ENST00000448424.2_Silent_p.G1143G|ATP7B_ENST00000418097.2_Silent_p.G1156G|ATP7B_ENST00000400366.3_Silent_p.G1110G	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	1221			G -> E (in WD).		ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)		TCCGGTTGTCCCCCGTGATCA	0.532000									Wilson disease				36	24					3.78316e-11	5.29065e-11	0.006230	1	0
NXF4	55999	broad.mit.edu	37	X	101818974	101818974	+	RNA	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chrX:101818974G>T	ENST00000360035.2	+	0	1258					NR_002216.1															endometrium(2)|lung(8)	10						GCCTATGTAAGGTCAGTGGCA	0.562000													10	17					7.48243e-07	9.03434e-07	0.006214	1	0
ABCB11	8647	broad.mit.edu	37	2	169824975	169824975	+	Silent	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr2:169824975C>T	ENST00000263817.6	-	17	2161	c.2037G>A	c.(2035-2037)gcG>gcA	p.A679A		NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 11	679					bile acid biosynthetic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)	TAAAGGTCCTCGCAAGCATGT	0.398000													11	10					0	0	0.001368	0	0
KRT72	140807	broad.mit.edu	37	12	52985332	52985332	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr12:52985332G>C	ENST00000293745.2	-	5	964	c.879C>G	c.(877-879)gaC>gaG	p.D293E	KRT72_ENST00000398066.3_Missense_Mutation_p.D105E|KRT72_ENST00000537672.2_Missense_Mutation_p.D293E|KRT72_ENST00000354310.4_Missense_Mutation_p.D293E	NM_080747.2	NP_542785.1	Q14CN4	K2C72_HUMAN	keratin 72	293	Linker 12.|Rod.					keratin filament	structural molecule activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(357;0.195)		CAATGATGCTGTCCAGGTCCA	0.597000													30	46					0	0	0.007291	0	0
OR2T27	403239	broad.mit.edu	37	1	248813466	248813466	+	Silent	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:248813466G>T	ENST00000344889.3	-	1	719	c.720C>A	c.(718-720)acC>acA	p.T240T		NM_001001824.1	NP_001001824.1	Q8NH04	O2T27_HUMAN	olfactory receptor, family 2, subfamily T, member 27	240					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(2)|large_intestine(4)|lung(20)|skin(3)|stomach(1)	32	all_cancers(71;1.15e-05)|all_epithelial(71;5.29e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.089)|Lung NSC(105;0.0969)|Melanoma(84;0.199)	all_cancers(173;0.237)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GTGAGGAGCAGGTGGCCACAG	0.527000													10	13					1.08611e-07	1.35949e-07	0.000978	1	0
OR2W5	441932	broad.mit.edu	37	1	247654766	247654766	+	RNA	SNP	G	G	T	rs145704231		TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:247654766G>T	ENST00000522351.1	+	0	397							A6NFC9	OR2W5_HUMAN							sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(24)|ovary(1)|skin(4)	39	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.222)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			CACCGAGTGCGTCCTCCTGGT	0.602000													56	46					1.74971e-23	3.17677e-23	0.003610	1	0
SKAP2	8935	broad.mit.edu	37	7	26765118	26765118	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr7:26765118T>A	ENST00000345317.2	-	9	1038	c.725A>T	c.(724-726)cAt>cTt	p.H242L	SKAP2_ENST00000489977.1_5'UTR|SKAP2_ENST00000539623.1_Missense_Mutation_p.H70L	NM_003930.3	NP_003921.2	O75563	SKAP2_HUMAN	src kinase associated phosphoprotein 2	242					B cell activation|cell junction assembly|protein complex assembly|signal transduction	cytosol|plasma membrane	SH3/SH2 adaptor activity			haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|skin(3)	17						TGGTAGAGGATGATCAACATC	0.303000													33	25					0	0	0.003271	0	0
HMCN1	83872	broad.mit.edu	37	1	185931747	185931747	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:185931747G>C	ENST00000271588.4	+	12	2155	c.1926G>C	c.(1924-1926)aaG>aaC	p.K642N	HMCN1_ENST00000367492.2_Missense_Mutation_p.K642N|HMCN1_ENST00000485744.1_3'UTR	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	642	Ig-like C2-type 3.				response to stimulus|visual perception	basement membrane	calcium ion binding	p.K642N(1)		NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CCAAACCAAAGATTGCCTGGA	0.428000													14	93					0	0	0.004990	0	0
PDE1A	5136	broad.mit.edu	37	2	183011820	183011820	+	Nonsense_Mutation	SNP	C	C	A	rs144375935		TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr2:183011820C>A	ENST00000435564.1	-	14	1824	c.1624G>T	c.(1624-1626)Gag>Tag	p.E542*	PDE1A_ENST00000536095.1_Nonsense_Mutation_p.E438*|PDE1A_ENST00000331935.6_Nonsense_Mutation_p.E542*|PDE1A_ENST00000409365.1_Nonsense_Mutation_p.E526*|PDE1A_ENST00000346717.4_Nonsense_Mutation_p.E508*	NM_001258312.1|NM_005019.4	NP_001245241.1|NP_005010.2	P54750	PDE1A_HUMAN	phosphodiesterase 1A, calmodulin-dependent	0					activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2)	35			OV - Ovarian serous cystadenocarcinoma(117;0.061)			GAATGTGTCTCATCATGTTTT	0.294000													32	57					6.97489e-18	1.16275e-17	0.004878	1	0
SNTG1	54212	broad.mit.edu	37	8	51569499	51569499	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr8:51569499G>T	ENST00000522124.1	+	14	1541	c.880G>T	c.(880-882)Gag>Tag	p.E294*	SNTG1_ENST00000518864.1_Nonsense_Mutation_p.E294*|SNTG1_ENST00000517473.1_Nonsense_Mutation_p.E294*|SNTG1_ENST00000276467.5_Nonsense_Mutation_p.E294*	NM_018967.2	NP_061840.1	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	294	PH.				cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				TGAAGCCCGGGAGCAAGACCC	0.443000													37	168					1.47197e-15	2.32441e-15	0.007835	1	0
TFF2	7032	broad.mit.edu	37	21	43767673	43767673	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr21:43767673C>T	ENST00000291526.4	-	3	468	c.298G>A	c.(298-300)Gaa>Aaa	p.E100K	TFF2_ENST00000475297.1_5'UTR	NM_005423.4	NP_005414.1	Q03403	TFF2_HUMAN	trefoil factor 2	100	P-type 2.				digestion	extracellular region				large_intestine(1)|pancreas(1)|urinary_tract(1)	3						GAGGCGCATTCCTCGGGGCTG	0.582000													15	22					0	0	0.003163	0	0
POMP	51371	broad.mit.edu	37	13	29252222	29252222	+	Missense_Mutation	SNP	A	A	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr13:29252222A>G	ENST00000380842.4	+	6	490	c.409A>G	c.(409-411)Aaa>Gaa	p.K137E	POMP_ENST00000460403.1_3'UTR	NM_015932.5	NP_057016.1	Q9Y244	POMP_HUMAN	proteasome maturation protein	137					proteasome assembly	cytosol|endoplasmic reticulum|membrane|microsome|nucleus|proteasome complex				endometrium(2)|kidney(1)|large_intestine(1)	4		Lung SC(185;0.0367)		all cancers(112;0.141)|OV - Ovarian serous cystadenocarcinoma(117;0.216)		GGTGGAATATAAACTTGGTTT	0.353000													38	26					0	0	0.009718	0	0
SLC7A9	11136	broad.mit.edu	37	19	33353074	33353074	+	Silent	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr19:33353074C>A	ENST00000023064.4	-	6	845	c.654G>T	c.(652-654)gtG>gtT	p.V218V	SLC7A9_ENST00000590341.1_Silent_p.V218V|SLC7A9_ENST00000587772.1_Silent_p.V218V	NM_001126335.1|NM_001243036.1|NM_014270.4	NP_001119807.1|NP_001229965.1|NP_055085.1	P82251	BAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, bo,+ system), member 9	218					blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	integral to plasma membrane	L-cystine transmembrane transporter activity|neutral amino acid transmembrane transporter activity|peptide antigen binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32	Esophageal squamous(110;0.137)				L-Cystine(DB00138)	TGATGGCTCCCACAGACAGCT	0.542000													16	50					4.14922e-12	5.96171e-12	0.004007	1	0
TG	7038	broad.mit.edu	37	8	133912572	133912572	+	Missense_Mutation	SNP	A	A	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr8:133912572A>T	ENST00000220616.4	+	15	3461	c.3421A>T	c.(3421-3423)Agc>Tgc	p.S1141C	TG_ENST00000377869.1_Missense_Mutation_p.S1141C	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1141	Thyroglobulin type-1 9.				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		TGGCTCGAGCAGCAGTGCCCA	0.617000													9	7					0	0	0.004482	0	0
TBX18	9096	broad.mit.edu	37	6	85447030	85447030	+	Silent	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr6:85447030G>T	ENST00000369663.5	-	8	1534	c.1197C>A	c.(1195-1197)gcC>gcA	p.A399A	TBX18_ENST00000606784.1_Intron	NM_001080508.1	NP_001073977.1	O95935	TBX18_HUMAN	T-box 18	399					multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3)	61		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)		BRCA - Breast invasive adenocarcinoma(108;0.0267)		CCAGATGGAAGGCAGGAGAGG	0.582000													11	28					0.000151284	0.000168005	0.001855	1	0
IGHV1-46	28465	broad.mit.edu	37	14	106967442	106967442	+	RNA	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr14:106967442G>T	ENST00000390622.2	-	0	346																											CCTTTACCTGGAGCTACAGCC	0.522000													35	26					7.61001e-30	1.43679e-29	0.005524	1	0
CD86	942	broad.mit.edu	37	3	121822406	121822406	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr3:121822406C>A	ENST00000330540.2	+	3	228	c.112C>A	c.(112-114)Ctg>Atg	p.L38M	CD86_ENST00000493101.1_Intron|CD86_ENST00000469710.1_5'UTR|CD86_ENST00000393627.2_Missense_Mutation_p.L32M|CD86_ENST00000483949.1_3'UTR|CD86_ENST00000264468.5_Intron	NM_175862.4	NP_787058.4	P42081	CD86_HUMAN	CD86 molecule	38	Ig-like V-type.				interspecies interaction between organisms|positive regulation of cell proliferation|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of lymphotoxin A biosynthetic process|positive regulation of T-helper 2 cell differentiation|positive regulation of transcription, DNA-dependent|T cell costimulation		coreceptor activity|protein binding			breast(2)|endometrium(1)|kidney(1)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	23				GBM - Glioblastoma multiforme(114;0.156)	Abatacept(DB01281)	GACTGCAGACCTGCCATGCCA	0.428000													11	60					6.40141e-05	7.20711e-05	0.000978	1	0
OR5L1	219437	broad.mit.edu	37	11	55578989	55578989	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr11:55578989G>T	ENST00000333973.2	+	1	136	c.47G>T	c.(46-48)gGa>gTa	p.G16V		NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L, member 1	16					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G16V(1)		NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				ATTCTCCTTGGACTATCAGAT	0.433000													33	129					9.14704e-12	1.30659e-11	0.008740	1	0
KCNK9	51305	broad.mit.edu	37	8	140631244	140631244	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr8:140631244G>T	ENST00000520439.1	-	2	445	c.382C>A	c.(382-384)Ctg>Atg	p.L128M	KCNK9_ENST00000303015.1_Missense_Mutation_p.L128M			Q9NPC2	KCNK9_HUMAN	potassium channel, subfamily K, member 9	128						integral to membrane|membrane fraction	potassium channel activity|voltage-gated ion channel activity			NS(1)|endometrium(9)|kidney(1)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)	43	all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;0.134)	BRCA - Breast invasive adenocarcinoma(115;0.0855)			CGCTCGCCCAGGCTCTGGAAC	0.587000													11	19					2.80697e-09	3.71645e-09	0.000978	1	0
IFIT1B	439996	broad.mit.edu	37	10	91143649	91143649	+	Silent	SNP	A	A	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr10:91143649A>G	ENST00000371809.3	+	2	659	c.579A>G	c.(577-579)acA>acG	p.T193T	LIPA_ENST00000371837.1_Intron	NM_001010987.2	NP_001010987.1	Q5T764	IFT1B_HUMAN	interferon-induced protein with tetratricopeptide repeats 1B	193							binding			endometrium(2)|large_intestine(3)|lung(8)	13						AATTTAACACAGCATCAGGGA	0.458000													64	157					0	0	0.003610	0	0
SLC4A2	6522	broad.mit.edu	37	7	150767073	150767073	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr7:150767073G>T	ENST00000485713.1	+	9	2227	c.1187G>T	c.(1186-1188)gGa>gTa	p.G396V	SLC4A2_ENST00000310317.5_Missense_Mutation_p.G314V|SLC4A2_ENST00000461735.1_Missense_Mutation_p.G382V|SLC4A2_ENST00000413384.2_Missense_Mutation_p.G396V|SLC4A2_ENST00000392826.2_Missense_Mutation_p.G387V	NM_001199692.1	NP_001186621.1	P04920	B3A2_HUMAN	solute carrier family 4 (anion exchanger), member 2	396					bicarbonate transport	integral to membrane|membrane fraction	inorganic anion exchanger activity			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(14)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		ACCCTGCCCGGAGTGGCCCAC	0.607000													22	11					7.41877e-09	9.69131e-09	0.001882	1	0
COL12A1	1303	broad.mit.edu	37	6	75818746	75818746	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr6:75818746C>A	ENST00000322507.8	-	52	8397	c.8088G>T	c.(8086-8088)agG>agT	p.R2696S	COL12A1_ENST00000345356.6_Missense_Mutation_p.R1532S|COL12A1_ENST00000416123.2_Intron|COL12A1_ENST00000483888.2_Missense_Mutation_p.R2696S	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	2696	Nonhelical region (NC3).|TSP N-terminal.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						CGGCTGATTTCCTTTCCCCTT	0.323000													25	48					8.58068e-18	1.42558e-17	0.007291	1	0
RNPEP	6051	broad.mit.edu	37	1	201969078	201969078	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:201969078G>C	ENST00000295640.4	+	6	1182	c.1139G>C	c.(1138-1140)cGt>cCt	p.R380P	RNPEP_ENST00000471105.1_3'UTR|RNPEP_ENST00000367286.3_Missense_Mutation_p.R341P	NM_020216.3	NP_064601.3	Q9H4A4	AMPB_HUMAN	arginyl aminopeptidase (aminopeptidase B)	380					leukotriene biosynthetic process		epoxide hydrolase activity|zinc ion binding			breast(1)|endometrium(4)|large_intestine(4)|lung(6)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21				KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|Colorectal(1306;0.005)		GCTCTGCTGCGTCAGCACATG	0.582000											OREG0014093	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	25					0	0	0.000602	0	0
SLC25A53	401612	broad.mit.edu	37	X	103349078	103349078	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chrX:103349078G>A	ENST00000357421.4	-	2	1043	c.863C>T	c.(862-864)aCg>aTg	p.T288M		NM_001012755.3	NP_001012773.2	Q5H9E4	MCAR6_HUMAN	solute carrier family 25, member 53	288					transport	integral to membrane|mitochondrial inner membrane											ATGGATTGCCGTAGTGAGGCC	0.532000													11	23					0	0	0.000978	0	0
ZNF33A	7581	broad.mit.edu	37	10	38305835	38305835	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr10:38305835G>T	ENST00000374618.3	+	3	224	c.46G>T	c.(46-48)Gat>Tat	p.D16Y	ZNF33A_ENST00000458705.2_Missense_Mutation_p.D16Y|ZNF33A_ENST00000307441.9_Missense_Mutation_p.D16Y|ZNF33A_ENST00000469037.2_Missense_Mutation_p.D16Y|ZNF33A_ENST00000476504.1_3'UTR|ZNF33A_ENST00000432900.2_Missense_Mutation_p.D23Y	NM_001278170.1|NM_001278171.1|NM_001278173.1|NM_001278174.1|NM_001278175.1|NM_001278176.1|NM_001278177.1|NM_001278178.1|NM_001278179.1|NM_006954.1|NM_006974.2	NP_001265099.1|NP_001265100.1|NP_001265102.1|NP_001265103.1|NP_001265104.1|NP_001265105.1|NP_001265106.1|NP_001265107.1|NP_001265108.1|NP_008885.1|NP_008905.1	Q06730	ZN33A_HUMAN	zinc finger protein 33A	16	KRAB.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(2)|endometrium(2)|large_intestine(8)|liver(2)|lung(27)|ovary(2)|prostate(1)|skin(2)	46						ATCATTTAAAGATGTGACTGT	0.453000													30	21					2.85442e-18	4.8021e-18	0.002096	1	0
PREPL	9581	broad.mit.edu	37	2	44565657	44565657	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr2:44565657C>T	ENST00000541738.1	-	7	1107	c.721G>A	c.(721-723)Gat>Aat	p.D241N	PREPL_ENST00000409411.1_Missense_Mutation_p.D241N|PREPL_ENST00000410081.1_Missense_Mutation_p.D330N|PREPL_ENST00000260648.6_Missense_Mutation_p.D330N|PREPL_ENST00000409957.1_Missense_Mutation_p.D241N|PREPL_ENST00000409936.1_Missense_Mutation_p.D330N|PREPL_ENST00000409272.1_Missense_Mutation_p.D330N|PREPL_ENST00000378511.3_Intron|PREPL_ENST00000378520.3_Missense_Mutation_p.D330N	NM_001171617.1	NP_001165088.1	Q4J6C6	PPCEL_HUMAN	prolyl endopeptidase-like	330					proteolysis	cytosol	serine-type endopeptidase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(19)|ovary(1)|prostate(1)|skin(2)	33		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				GCAGGGGTATCAGCCGCTGTT	0.378000													7	51					0	0	0.001984	0	0
PNLIP	5406	broad.mit.edu	37	10	118306841	118306841	+	Missense_Mutation	SNP	A	A	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr10:118306841A>T	ENST00000369221.2	+	3	110	c.82A>T	c.(82-84)Agt>Tgt	p.S28C	PNLIP_ENST00000470562.1_3'UTR	NM_000936.2	NP_000927.1	P16233	LIPP_HUMAN	pancreatic lipase	28					lipid catabolic process|retinoid metabolic process|steroid metabolic process	extracellular region	retinyl-palmitate esterase activity|triglyceride lipase activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	43				all cancers(201;0.0131)	Bentiromide(DB00522)|Orlistat(DB01083)	CGGCTGCTTCAGTGATGACTC	0.428000													22	53					0	0	0.002780	0	0
WDR17	116966	broad.mit.edu	37	4	177032808	177032808	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr4:177032808G>T	ENST00000393643.2	+	2	329	c.77G>T	c.(76-78)gGa>gTa	p.G26V	WDR17_ENST00000508596.1_Missense_Mutation_p.G26V|WDR17_ENST00000280190.4_Missense_Mutation_p.G50V|WDR17_ENST00000507824.2_Missense_Mutation_p.G50V	NM_170710.4	NP_733828.2	Q8IZU2	WDR17_HUMAN	WD repeat domain 17	50										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		GCTGCCAGTGGAGACAGGTTT	0.378000													15	29					1.02788e-11	1.46399e-11	0.004990	1	0
DCDC1	341019	broad.mit.edu	37	11	31312394	31312394	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr11:31312394G>T	ENST00000597505.1	-	5	759	c.760C>A	c.(760-762)Ctg>Atg	p.L254M	DCDC1_ENST00000452803.1_Missense_Mutation_p.L254M			P59894	DCDC1_HUMAN	doublecortin domain containing 1	254					intracellular signal transduction			p.L254L(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					ATTAACAACAGATGGTCTAGA	0.328000													14	27					2.23348e-06	2.6381e-06	0.004007	1	0
TLL1	7092	broad.mit.edu	37	4	166981261	166981261	+	Missense_Mutation	SNP	A	A	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr4:166981261A>G	ENST00000061240.2	+	15	2575	c.1928A>G	c.(1927-1929)aAc>aGc	p.N643S	TLL1_ENST00000507499.1_Missense_Mutation_p.N666S	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	643	CUB 3.				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		CCTAATAAGAACTGTGTGTGG	0.428000													13	16					0	0	0.001368	0	0
LCE1A	353131	broad.mit.edu	37	1	152799984	152799984	+	Silent	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:152799984C>A	ENST00000335123.2	+	1	36	c.36C>A	c.(34-36)ccC>ccA	p.P12P		NM_178348.2	NP_848125.1	Q5T7P2	LCE1A_HUMAN	late cornified envelope 1A	12	Cys-rich.				keratinization					endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)|skin(1)	8	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			AGTGCCAGCCCCCTcccaagt	0.622000													21	53					1.87028e-06	2.22342e-06	0.001882	1	0
VAV1	7409	broad.mit.edu	37	19	6773018	6773018	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr19:6773018C>A	ENST00000304076.2	+	1	294	c.200C>A	c.(199-201)tCc>tAc	p.S67Y	VAV1_ENST00000596764.1_Missense_Mutation_p.S67Y|VAV1_ENST00000539284.1_Missense_Mutation_p.S2Y|VAV1_ENST00000602142.1_Missense_Mutation_p.S67Y	NM_001258206.1	NP_001245135.1	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor	67	CH.|Leu-rich.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						CCCCAGATGTCCCAGGTGAGC	0.667000													33	23					1.69901e-12	2.46777e-12	0.005524	1	0
HOXB5	3215	broad.mit.edu	37	17	46670529	46670529	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr17:46670529C>G	ENST00000239151.5	-	1	794	c.516G>C	c.(514-516)caG>caC	p.Q172H	HOXB3_ENST00000552000.2_Intron|HOXB-AS3_ENST00000492897.3_RNA|HOXB-AS3_ENST00000487849.3_RNA|HOXB-AS3_ENST00000476204.1_RNA|HOXB-AS3_ENST00000465846.2_RNA|HOXB-AS3_ENST00000480872.1_RNA|HOXB-AS3_ENST00000474040.1_RNA|HOXB-AS3_ENST00000467155.2_RNA|HOXB-AS3_ENST00000429755.4_RNA	NM_002147.3	NP_002138.1	P09067	HXB5_HUMAN	homeobox B5	172						nucleus	sequence-specific DNA binding			large_intestine(1)|lung(2)	3						TTTGCGGAGTCTGCCCCTCGG	0.597000													33	47					0	0	0.004289	0	0
BAGE2	85319	broad.mit.edu	37	21	11038964	11038964	+	RNA	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr21:11038964G>T	ENST00000470054.1	-	0	1239									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TGATGACTCTGTCTCAGATGA	0.418000													18	297					5.03518e-11	7.0215e-11	0.007413	1	0
ATP5J2	9551	broad.mit.edu	37	7	99063733	99063733	+	Splice_Site	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr7:99063733C>A	ENST00000292475.3	-	1	221		c.e1+1		ATP5J2-PTCD1_ENST00000413834.1_Intron|ATP5J2_ENST00000449683.1_Intron|ATP5J2_ENST00000466753.1_Splice_Site|ATP5J2_ENST00000359832.4_Splice_Site|ATP5J2_ENST00000394186.3_Intron|PTCD1_ENST00000555673.1_Intron|ATP5J2_ENST00000488775.1_Intron	NM_004889.3	NP_004880.1			ATP synthase, H+ transporting, mitochondrial Fo complex, subunit F2											large_intestine(1)|ovary(1)	2	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					AACAGCCTTACCTGGGGCCGG	0.647000													24	14					2.79863e-10	3.80853e-10	0.004656	1	0
JPH4	84502	broad.mit.edu	37	14	24041027	24041027	+	Silent	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr14:24041027G>T	ENST00000397118.3	-	5	2156	c.1254C>A	c.(1252-1254)ccC>ccA	p.P418P	JPH4_ENST00000544177.1_Silent_p.P83P|JPH4_ENST00000356300.4_Silent_p.P418P	NM_032452.2	NP_115828.2	Q96JJ6	JPH4_HUMAN	junctophilin 4	418					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane				endometrium(1)|large_intestine(2)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00654)		CCTCTAGCATGGGCTGCAGGT	0.632000													62	57					1.48873e-21	2.63445e-21	0.003610	1	0
CCDC73	493860	broad.mit.edu	37	11	32724484	32724484	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr11:32724484G>A	ENST00000531481.1	-	4	490	c.214C>T	c.(214-216)Ctt>Ttt	p.L72F	CCDC73_ENST00000534415.1_5'UTR|CCDC73_ENST00000335185.5_Missense_Mutation_p.L72F			Q6ZRK6	CCD73_HUMAN	coiled-coil domain containing 73	72										NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	51	Breast(20;0.112)					TGATTCTGAAGAGTTTCCTGT	0.318000													13	80					0	0	0.001855	0	0
EDEM2	55741	broad.mit.edu	37	20	33722565	33722565	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr20:33722565C>A	ENST00000540582.1	-	10	1276	c.555G>T	c.(553-555)tgG>tgT	p.W185C	EDEM2_ENST00000374491.2_Missense_Mutation_p.W189C|EDEM2_ENST00000542871.1_Intron|EDEM2_ENST00000374492.3_Missense_Mutation_p.W226C|EDEM2_ENST00000541621.1_5'UTR			Q9BV94	EDEM2_HUMAN	ER degradation enhancer, mannosidase alpha-like 2	226					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding	p.W226*(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	22			BRCA - Breast invasive adenocarcinoma(18;0.00936)			ACCGGCTCTCCCAGAGGCGCA	0.567000													29	20					9.04072e-19	1.54039e-18	0.003271	1	0
STK33	65975	broad.mit.edu	37	11	8496413	8496413	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr11:8496413G>A	ENST00000447869.1	-	1	958	c.40C>T	c.(40-42)Ccc>Tcc	p.P14S	STK33_ENST00000358872.3_Intron|STK33_ENST00000396672.1_Missense_Mutation_p.P14S|STK33_ENST00000534493.1_Intron|STK33_ENST00000396673.1_Missense_Mutation_p.P14S|STK33_ENST00000315204.1_Missense_Mutation_p.P14S			Q9BYT3	STK33_HUMAN	serine/threonine kinase 33	14						Golgi apparatus|nucleus|perinuclear region of cytoplasm	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|skin(3)	23				Epithelial(150;2.13e-06)|BRCA - Breast invasive adenocarcinoma(625;0.239)		GAACAGTCGGGGCATTTTGTG	0.393000													33	85					0	0	0.004878	0	0
ADRA1A	148	broad.mit.edu	37	8	26627890	26627890	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr8:26627890C>A	ENST00000380573.3	-	3	2200	c.1177G>T	c.(1177-1179)Ggc>Tgc	p.G393C	ADRA1A_ENST00000380582.3_Missense_Mutation_p.G393C|ADRA1A_ENST00000380586.1_Missense_Mutation_p.G393C|ADRA1A_ENST00000380581.2_Intron|ADRA1A_ENST00000519229.1_Missense_Mutation_p.G393C|ADRA1A_ENST00000380587.1_Intron|ADRA1A_ENST00000354550.4_Missense_Mutation_p.G393C|ADRA1A_ENST00000276393.4_Missense_Mutation_p.G393C			P35348	ADA1A_HUMAN	adrenoceptor alpha 1A	393					activation of phospholipase C activity|aging|apoptosis|calcium ion transport into cytosol|cell-cell signaling|intracellular protein kinase cascade|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of synaptic transmission, GABAergic|positive regulation of action potential|positive regulation of cardiac muscle contraction|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase C signaling cascade|positive regulation of vasoconstriction|response to drug|response to hormone stimulus|response to stress|smooth muscle contraction	integral to plasma membrane	alpha1-adrenergic receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|skin(1)	36		all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115)	Alfuzosin(DB00346)|Amiodarone(DB01118)|Amphetamine(DB00182)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Carvedilol(DB01136)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Epinastine(DB00751)|Epinephrine(DB00668)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Maprotiline(DB00934)|Mephentermine(DB01365)|Metaraminol(DB00610)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Nefazodone(DB01149)|Nicergoline(DB00699)|Nilutamide(DB00665)|Norepinephrine(DB00368)|Norgestrel(DB00506)|Oxymetazoline(DB00935)|Perphenazine(DB00850)|Phendimetrazine(DB01579)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Prazosin(DB00457)|Promazine(DB00420)|Promethazine(DB01069)|Propericiazine(DB01608)|Propiomazine(DB00777)|Pseudoephedrine(DB00852)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Thioridazine(DB00679)|Tolazoline(DB00797)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Ziprasidone(DB00246)	TCACAAACGCCATCCGTCTTG	0.562000													13	75					1.61879e-10	2.21734e-10	0.001368	1	0
FLG2	388698	broad.mit.edu	37	1	152327631	152327631	+	Silent	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:152327631G>A	ENST00000388718.5	-	3	2703	c.2631C>T	c.(2629-2631)agC>agT	p.S877S	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	877	Ser-rich.						calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ATTGACCTGAGCTTGACCTGT	0.502000													183	273					0	0	0.003610	0	0
NELL2	4753	broad.mit.edu	37	12	44913879	44913879	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr12:44913879G>T	ENST00000429094.2	-	19	2813	c.2309C>A	c.(2308-2310)aCc>aAc	p.T770N	NELL2_ENST00000333837.4_Missense_Mutation_p.T793N|NELL2_ENST00000395487.2_Missense_Mutation_p.T769N|NELL2_ENST00000452445.2_Missense_Mutation_p.T770N|NELL2_ENST00000437801.2_Missense_Mutation_p.T820N|NELL2_ENST00000551601.1_Missense_Mutation_p.T722N|NELL2_ENST00000549027.1_Missense_Mutation_p.T769N	NM_001145108.1	NP_001138580.1	Q99435	NELL2_HUMAN	NEL-like 2 (chicken)	770	VWFC 5.				cell adhesion	extracellular region	calcium ion binding|protein binding|structural molecule activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		GCAAGTCTTGGTGATGTCATT	0.532000													12	64					3.07112e-06	3.60426e-06	0.000978	1	0
IGHV1OR16-4	28312	broad.mit.edu	37	16	33013853	33013853	+	RNA	SNP	T	T	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr16:33013853T>A	ENST00000567619.1	-	0	499																											TCAGTGAAGGTCTCCTGCCAG	0.572000													13	101					0	0	0.007413	0	0
PCDH19	57526	broad.mit.edu	37	X	99662048	99662048	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chrX:99662048G>T	ENST00000373034.4	-	1	3223	c.1548C>A	c.(1546-1548)taC>taA	p.Y516*	PCDH19_ENST00000255531.7_Nonsense_Mutation_p.Y516*|PCDH19_ENST00000420881.2_Nonsense_Mutation_p.Y516*	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	516	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						ATCGCAGCGCGTAGATGTCGC	0.582000													22	64					2.32416e-17	3.81807e-17	0.002299	1	0
KRT82	3888	broad.mit.edu	37	12	52799947	52799947	+	Silent	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr12:52799947G>T	ENST00000257974.2	-	1	192	c.115C>A	c.(115-117)Cgg>Agg	p.R39R		NM_033033.3	NP_149022.3	Q9NSB4	KRT82_HUMAN	keratin 82	39	Head.					keratin filament	protein binding|structural constituent of epidermis			endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	29				BRCA - Breast invasive adenocarcinoma(357;0.193)		CCCCCGGGCCGGCATGGCCCC	0.657000													12	19					1.5842e-08	2.0476e-08	0.001855	1	0
LDLRAD3	143458	broad.mit.edu	37	11	36103329	36103329	+	Splice_Site	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr11:36103329G>T	ENST00000315571.5	+	3	340		c.e3+1		LDLRAD3_ENST00000524419.1_Splice_Site|LDLRAD3_ENST00000528989.1_Splice_Site	NM_174902.2	NP_777562.1	Q86YD5	LRAD3_HUMAN	low density lipoprotein receptor class A domain containing 3							integral to membrane	receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(7)|skin(1)	28	all_lung(20;0.089)|Lung NSC(22;0.175)|all_epithelial(35;0.177)	all_hematologic(20;0.124)				GAGAACTGCAGTAAGTGCTGC	0.527000													29	53					1.74807e-11	2.48009e-11	0.002096	1	0
HTR5A	3361	broad.mit.edu	37	7	154875913	154875913	+	Missense_Mutation	SNP	G	G	A	rs150067714	byFrequency	TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr7:154875913G>A	ENST00000287907.2	+	2	1366	c.790G>A	c.(790-792)Gcc>Acc	p.A264T	HTR5A_ENST00000486819.1_3'UTR	NM_024012.3	NP_076917.1	P47898	5HT5A_HUMAN	5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled	264						integral to plasma membrane	serotonin receptor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)		GGTCCGCCACGCCACCGTCAC	0.602000													14	28					0	0	0.004007	0	0
DCC	1630	broad.mit.edu	37	18	50976902	50976902	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr18:50976902G>T	ENST00000442544.2	+	23	3878	c.3262G>T	c.(3262-3264)Ggc>Tgc	p.G1088C	DCC_ENST00000581580.1_Missense_Mutation_p.G723C	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	1088					apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		CCCCCCGCATGGCAGTGTCAC	0.498000													19	35					1.56452e-12	2.27468e-12	0.007413	1	0
LATS2	26524	broad.mit.edu	37	13	21557801	21557801	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr13:21557801C>A	ENST00000382592.4	-	5	2449	c.2044G>T	c.(2044-2046)Gtg>Ttg	p.V682L	LATS2_ENST00000542899.1_Missense_Mutation_p.V682L	NM_014572.2	NP_055387.2	Q9NRM7	LATS2_HUMAN	large tumor suppressor kinase 2	682	Protein kinase.				cell division|G1/S transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|intracellular protein kinase cascade|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity	microtubule organizing center|nucleus|spindle pole	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2)	45		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)		GCAAGGCACACTTCTCCAAAG	0.498000													26	27					3.01185e-09	3.97694e-09	0.003954	1	0
C7orf63	79846	broad.mit.edu	37	7	89891302	89891302	+	Silent	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr7:89891302G>T	ENST00000389297.4	+	4	539	c.288G>T	c.(286-288)ctG>ctT	p.L96L	C7orf63_ENST00000463311.1_3'UTR|C7orf63_ENST00000497910.1_Silent_p.L96L|C7orf63_ENST00000316089.8_Silent_p.L96L	NM_001039706.2|NM_001160138.1	NP_001034795.2|NP_001153610.1	A5D8W1	CG063_HUMAN	chromosome 7 open reading frame 63	96							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|prostate(3)	37						TTCTGAATCTGTGTTCAGGAA	0.249000													152	37					1.19275e-65	2.355e-65	0.003610	1	0
SPNS1	83985	broad.mit.edu	37	16	28993752	28993752	+	Silent	SNP	C	C	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr16:28993752C>G	ENST00000311008.11	+	8	1418	c.1041C>G	c.(1039-1041)ctC>ctG	p.L347L	RP11-264B17.3_ENST00000569969.1_RNA|SPNS1_ENST00000334536.8_Silent_p.L295L|SPNS1_ENST00000323081.8_Silent_p.L274L|SPNS1_ENST00000352260.7_Silent_p.L273L|SPNS1_ENST00000565975.1_Silent_p.L392L	NM_032038.2	NP_114427.1	Q9H2V7	SPNS1_HUMAN	spinster homolog 1 (Drosophila)	347					lipid transport|transmembrane transport	integral to membrane|mitochondrial inner membrane	protein binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)|urinary_tract(1)	21						GCCGCCGGCTCCGCCACTCCA	0.657000													25	65					0	0	0.007291	0	0
ABCB11	8647	broad.mit.edu	37	2	169780256	169780256	+	Missense_Mutation	SNP	T	T	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr2:169780256T>C	ENST00000263817.6	-	28	3966	c.3842A>G	c.(3841-3843)cAg>cGg	p.Q1281R		NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 11	1281	ABC transporter 2.				bile acid biosynthetic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)	ATCCGCGTTCTGGATGGTGGA	0.512000													22	48					0	0	0.001882	0	0
TCP10	6953	broad.mit.edu	37	6	167790080	167790080	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr6:167790080C>A	ENST00000366827.2	-	5	741	c.530G>T	c.(529-531)aGg>aTg	p.R177M	TCP10_ENST00000397829.4_Missense_Mutation_p.R177M			Q12799	TCP10_HUMAN	t-complex 10	204						cytosol				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(6)	18		Breast(66;1.53e-05)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)|GBM - Glioblastoma multiforme(31;0.0386)		GGGAGTCGGCCTTCCAGTGGG	0.527000													22	55					1.75199e-13	2.63067e-13	0.007291	1	0
ERBB4	2066	broad.mit.edu	37	2	212295716	212295716	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr2:212295716C>T	ENST00000342788.4	-	21	2907	c.2597G>A	c.(2596-2598)aGa>aAa	p.R866K	ERBB4_ENST00000402597.1_Missense_Mutation_p.R856K|ERBB4_ENST00000436443.1_Missense_Mutation_p.R866K	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	866	Protein kinase.				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		TTCCAAGAGTCTGGCTAGCCC	0.403000										TSP Lung(8;0.080)			42	85					0	0	0.002522	0	0
UBR4	23352	broad.mit.edu	37	1	19467338	19467338	+	Missense_Mutation	SNP	T	T	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:19467338T>C	ENST00000375267.2	-	58	8540	c.8537A>G	c.(8536-8538)cAg>cGg	p.Q2846R	UBR4_ENST00000375254.3_Missense_Mutation_p.Q2846R|UBR4_ENST00000375217.2_Intron|UBR4_ENST00000375226.2_Intron			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	2846					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		GCTGGGTGCCTGGCCGGACAG	0.632000													8	9					0	0	0.004482	0	0
LYG1	129530	broad.mit.edu	37	2	99901279	99901279	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr2:99901279G>T	ENST00000409448.1	-	7	654	c.338C>A	c.(337-339)cCt>cAt	p.P113H	LYG1_ENST00000308528.4_Missense_Mutation_p.P113H			Q8N1E2	LYG1_HUMAN	lysozyme G-like 1	113					cell wall macromolecule catabolic process|peptidoglycan catabolic process	extracellular region	lysozyme activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(1)	7						TTGAGAGCCAGGGTCCTGCAG	0.517000													23	25					9.95505e-16	1.57711e-15	0.002299	1	0
OR51F1	256892	broad.mit.edu	37	11	4790226	4790226	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr11:4790226G>T	ENST00000380383.1	-	1	942	c.943C>A	c.(943-945)Ctg>Atg	p.L315M	MMP26_ENST00000380390.1_Intron|OR51F1_ENST00000343430.3_Missense_Mutation_p.L308M|MMP26_ENST00000477339.1_Intron			A6NLW9	A6NLW9_HUMAN	olfactory receptor, family 51, subfamily F, member 1	308						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)		GTAAGCAGCAGACTGAGCATA	0.418000													28	27					3.73988e-18	6.26302e-18	0.006320	1	0
ZNF496	84838	broad.mit.edu	37	1	247492105	247492105	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:247492105C>A	ENST00000294753.4	-	4	918	c.454G>T	c.(454-456)Gag>Tag	p.E152*	ZNF496_ENST00000366498.2_Nonsense_Mutation_p.E152*	NM_032752.1	NP_116141.1	Q96IT1	ZN496_HUMAN	zinc finger protein 496	152					positive regulation of transcription, DNA-dependent|viral reproduction		DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	36	all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)		OV - Ovarian serous cystadenocarcinoma(106;0.00703)			GGCAGCTGCTCCTGCTCCTGG	0.597000													26	125					1.5548e-18	2.62171e-18	0.005443	1	0
PIK3CA	5290	broad.mit.edu	37	3	178937410	178937410	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr3:178937410G>A	ENST00000263967.3	+	12	1955	c.1798G>A	c.(1798-1800)Gaa>Aaa	p.E600K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	600	PI3K helical.				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity			NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			ACAGGCTATGGAACTTCTGGA	0.363000		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			11	27					0	0	0.004007	0	0
STXBP5	134957	broad.mit.edu	37	6	147680250	147680250	+	Missense_Mutation	SNP	G	G	T	rs144076925		TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr6:147680250G>T	ENST00000367481.3	+	21	2336	c.2228G>T	c.(2227-2229)cGg>cTg	p.R743L	STXBP5_ENST00000367480.3_Missense_Mutation_p.R726L|STXBP5_ENST00000179882.6_Missense_Mutation_p.R434L|STXBP5_ENST00000321680.6_Missense_Mutation_p.R779L	NM_139244.4	NP_640337.3	Q5T5C0	STXB5_HUMAN	syntaxin binding protein 5 (tomosyn)	779					exocytosis|positive regulation of exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|nicotinic acetylcholine-gated receptor-channel complex|synaptic vesicle	syntaxin-1 binding	p.R743L(1)|p.R779L(1)		breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	42		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)		AGCCGATCACGGAGTTCAAGT	0.383000													13	23					7.93312e-07	9.54708e-07	0.002450	1	0
COL6A2	1292	broad.mit.edu	37	21	47532214	47532214	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr21:47532214G>A	ENST00000300527.4	+	3	541	c.437G>A	c.(436-438)cGg>cAg	p.R146Q	COL6A2_ENST00000409416.1_Missense_Mutation_p.R146Q|COL6A2_ENST00000397763.1_Missense_Mutation_p.R146Q|COL6A2_ENST00000310645.5_Missense_Mutation_p.R146Q|COL6A2_ENST00000357838.4_Missense_Mutation_p.R146Q	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	146	Nonhelical region.|VWFA 1.				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging			NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		GAGCAGATCCGGCAGGACCGC	0.687000													6	17					0	0	0.001168	0	0
DOCK8	81704	broad.mit.edu	37	9	376232	376232	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr9:376232C>T	ENST00000432829.2	+	19	2244	c.1928C>T	c.(1927-1929)cCc>cTc	p.P643L	DOCK8_ENST00000382329.1_Missense_Mutation_p.P178L|DOCK8_ENST00000453981.1_Missense_Mutation_p.P711L|DOCK8_ENST00000382331.1_Missense_Mutation_p.P13L|DOCK8_ENST00000469391.1_Missense_Mutation_p.P643L	NM_203447.3	NP_982272.2	Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	711					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		CAGAATCCTCCCATTAAGTGG	0.373000													33	103					0	0	0.002836	0	0
IFT172	26160	broad.mit.edu	37	2	27677520	27677520	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr2:27677520C>T	ENST00000260570.3	-	31	3482	c.3379G>A	c.(3379-3381)Gaa>Aaa	p.E1127K		NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN	intraflagellar transport 172 homolog (Chlamydomonas)	1127					cilium assembly	cilium	binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					AACGCAAATTCAAAGGAGCTG	0.443000													10	38					0	0	0.008291	0	0
USH1C	10083	broad.mit.edu	37	11	17539001	17539001	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr11:17539001C>G	ENST00000527720.1	-	14	1382	c.1138G>C	c.(1138-1140)Gag>Cag	p.E380Q	USH1C_ENST00000527020.1_Missense_Mutation_p.E392Q|USH1C_ENST00000318024.4_Missense_Mutation_p.E411Q|USH1C_ENST00000005226.7_Intron			Q9Y6N9	USH1C_HUMAN	Usher syndrome 1C (autosomal recessive, severe)	411					equilibrioception|G2/M transition of mitotic cell cycle|photoreceptor cell maintenance|sensory perception of sound	apical part of cell|cytoplasm|stereocilium	protein binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	48						GGCTCGAGCTCAGGTTCCACT	0.607000													4	11					0	0	0.009096	0	0
L1CAM	3897	broad.mit.edu	37	X	153132121	153132121	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chrX:153132121C>A	ENST00000370060.1	-	19	2603	c.2414G>T	c.(2413-2415)gGc>gTc	p.G805V	L1CAM_ENST00000370057.3_Missense_Mutation_p.G805V|L1CAM_ENST00000543994.1_Missense_Mutation_p.G807V|L1CAM_ENST00000361699.4_Missense_Mutation_p.G805V|L1CAM_ENST00000361981.3_Missense_Mutation_p.G800V|L1CAM_ENST00000370055.1_Missense_Mutation_p.G800V|L1CAM_ENST00000538883.1_Missense_Mutation_p.G807V	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	805	Fibronectin type-III 2.				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane				NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TCCAGAGTAGCCGATAGTGAC	0.612000													17	54					1.33834e-09	1.78323e-09	0.007413	1	0
NEB	4703	broad.mit.edu	37	2	152410485	152410485	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr2:152410485C>A	ENST00000427231.2	-	126	19685	c.19483G>T	c.(19483-19485)Gac>Tac	p.D6495Y	NEB_ENST00000409198.1_Missense_Mutation_p.D4794Y|NEB_ENST00000604864.1_Missense_Mutation_p.D6495Y|NEB_ENST00000603639.1_Missense_Mutation_p.D6495Y|NEB_ENST00000397345.3_Missense_Mutation_p.D6495Y|NEB_ENST00000172853.10_Missense_Mutation_p.D4794Y	NM_001164507.1	NP_001157979.1	P20929	NEBU_HUMAN	nebulin	4794	Interaction with SVIL.				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TCTACCATGTCGGGCACGATG	0.453000													26	91					6.32553e-13	9.29815e-13	0.004656	1	0
TPK1	27010	broad.mit.edu	37	7	144380019	144380019	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr7:144380019G>T	ENST00000538212.2	-	2	102	c.32C>A	c.(31-33)cCg>cAg	p.P11Q	TPK1_ENST00000360057.3_Silent_p.T56T|TPK1_ENST00000549981.1_5'UTR|TPK1_ENST00000378099.3_Silent_p.T56T			Q9H3S4	TPK1_HUMAN	thiamin pyrophosphokinase 1	0					thiamine diphosphate biosynthetic process	cytosol	ATP binding|kinase activity|thiamine diphosphokinase activity			large_intestine(3)|lung(12)|ovary(2)|urinary_tract(2)	19					Thiamine(DB00152)	TCTCTCCTTCGGTGATATCAT	0.388000													37	83					6.53348e-20	1.13293e-19	0.003755	1	0
HYDIN	54768	broad.mit.edu	37	16	71212912	71212912	+	Silent	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr16:71212912G>A	ENST00000393567.2	-	4	450	c.300C>T	c.(298-300)ccC>ccT	p.P100P	HYDIN_ENST00000541601.1_Silent_p.P117P|HYDIN_ENST00000393550.2_Silent_p.P100P|HYDIN_ENST00000448089.2_Silent_p.P100P|HYDIN_ENST00000288168.10_Silent_p.P117P|HYDIN_ENST00000321489.5_Silent_p.P100P|HYDIN_ENST00000538248.1_Silent_p.P127P|HYDIN_ENST00000448691.1_Silent_p.P100P	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	100										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				CTGATGGAAAGGGCTGGAATA	0.378000													13	42					0	0	0.001855	0	0
SCN8A	6334	broad.mit.edu	37	12	52201157	52201157	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr12:52201157G>A	ENST00000354534.5	+	27	6065	c.5887G>A	c.(5887-5889)Gaa>Aaa	p.E1963K	SCN8A_ENST00000545061.1_Missense_Mutation_p.E1922K	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	1963					axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Lamotrigine(DB00555)	GCGGGCAGAGGAAGGAAGAAG	0.453000													9	19					0	0	0.004482	0	0
CRISP2	7180	broad.mit.edu	37	6	49666144	49666144	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr6:49666144G>T	ENST00000339139.4	-	7	584	c.348C>A	c.(346-348)gaC>gaA	p.D116E		NM_001142407.2|NM_001142408.2|NM_001142417.2|NM_001142435.2|NM_001261822.1|NM_003296.3	NP_001135879.1|NP_001135880.1|NP_001135889.1|NP_001135907.1|NP_001248751.1|NP_003287.1	P16562	CRIS2_HUMAN	cysteine-rich secretory protein 2	116						extracellular space		p.D116D(1)		kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	19	Lung NSC(77;0.0161)		KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)			CTAGGATCTCGTCATACCAGC	0.423000													47	47					7.88023e-25	1.4523e-24	0.003610	1	0
UNC5A	90249	broad.mit.edu	37	5	176304276	176304276	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr5:176304276G>A	ENST00000329542.4	+	9	1736	c.1462G>A	c.(1462-1464)Gtg>Atg	p.V488M	UNC5A_ENST00000261961.3_Missense_Mutation_p.V448M	NM_133369.2	NP_588610.2	Q6ZN44	UNC5A_HUMAN	unc-5 homolog A (C. elegans)	488	ZU5.				apoptosis|axon guidance|regulation of apoptosis	integral to membrane|plasma membrane				endometrium(4)|kidney(3)|large_intestine(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	34	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCCGGAAGACGTGAGGTGTGG	0.652000													21	18					0	0	0.002780	0	0
KIF4B	285643	broad.mit.edu	37	5	154394675	154394675	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr5:154394675G>A	ENST00000435029.4	+	1	1416	c.1256G>A	c.(1255-1257)aGg>aAg	p.R419K		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	419					axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity	p.R419M(2)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			ATGTTGGAGAGGATCATTTTG	0.478000													29	44					0	0	0.008361	0	0
DST	667	broad.mit.edu	37	6	56515773	56515773	+	Missense_Mutation	SNP	T	T	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr6:56515773T>C	ENST00000370754.5	-	11	1285	c.1286A>G	c.(1285-1287)tAt>tGt	p.Y429C	DST_ENST00000370788.2_Missense_Mutation_p.Y251C|DST_ENST00000312431.6_Missense_Mutation_p.Y251C|DST_ENST00000421834.2_Missense_Mutation_p.Y251C|DST_ENST00000370769.4_Missense_Mutation_p.Y251C|DST_ENST00000361203.3_Missense_Mutation_p.Y251C			Q03001	DYST_HUMAN	dystonin	251					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			AAATGCATCATAGAGAGATGA	0.368000													42	31					0	0	0.003610	0	0
NCKAP1L	3071	broad.mit.edu	37	12	54929927	54929927	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr12:54929927G>T	ENST00000293373.6	+	28	3050	c.2971G>T	c.(2971-2973)Gag>Tag	p.E991*	NCKAP1L_ENST00000545638.2_Nonsense_Mutation_p.E941*	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	991					actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						TTCATCTCCTGAGGAGGAATA	0.448000													35	53					1.07637e-12	1.57274e-12	0.004878	1	0
HRG	3273	broad.mit.edu	37	3	186394987	186394987	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr3:186394987C>A	ENST00000232003.4	+	7	973	c.893C>A	c.(892-894)cCa>cAa	p.P298Q		NM_000412.2	NP_000403.1	P04196	HRG_HUMAN	histidine-rich glycoprotein	298	Pro-rich.				fibrinolysis|platelet activation|platelet degranulation	extracellular region|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(12)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0683)		CATGGACCCCCACCTCCTCCA	0.542000													20	110					3.10358e-05	3.54868e-05	0.002299	1	0
CYTH4	27128	broad.mit.edu	37	22	37690736	37690736	+	Silent	SNP	A	A	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr22:37690736A>G	ENST00000248901.6	+	3	325	c.138A>G	c.(136-138)caA>caG	p.Q46Q	CYTH4_ENST00000405206.3_Silent_p.Q46Q|CYTH4_ENST00000402997.1_Silent_p.Q46Q|CYTH4_ENST00000439667.1_3'UTR	NM_013385.3	NP_037517.1	Q9UIA0	CYH4_HUMAN	cytohesin 4	46					regulation of ARF protein signal transduction|regulation of cell adhesion	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(2)|stomach(1)	15						TGTTTGCCCAAATCGACTGCT	0.587000													20	68					0	0	0.002299	0	0
OR4A16	81327	broad.mit.edu	37	11	55110788	55110788	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr11:55110788G>T	ENST00000314721.2	+	1	162	c.112G>T	c.(112-114)Gtg>Ttg	p.V38L		NM_001005274.1	NP_001005274.1	Q8NH70	O4A16_HUMAN	olfactory receptor, family 4, subfamily A, member 16	38					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						TGTGACAATGGTGGGAAACCT	0.423000													18	56					2.89027e-11	4.04582e-11	0.002299	1	0
ARHGAP1	392	broad.mit.edu	37	11	46700978	46700978	+	Silent	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr11:46700978G>A	ENST00000311956.4	-	12	1165	c.1068C>T	c.(1066-1068)gtC>gtT	p.V356V		NM_004308.2	NP_004299.1	Q07960	RHG01_HUMAN	Rho GTPase activating protein 1	356	Rho-GAP.				Rho protein signal transduction	cytosol|intracellular membrane-bounded organelle	SH3 domain binding|SH3/SH2 adaptor activity			endometrium(1)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	11		Lung NSC(402;1.76e-12)|all_lung(304;1.3e-11)		GBM - Glioblastoma multiforme(35;5.17e-06)|BRCA - Breast invasive adenocarcinoma(625;0.00112)|Lung(87;0.153)		GCGTCTGGAGGACCTGCAGTG	0.597000													17	29					0	0	0.008871	0	0
CCNB3	85417	broad.mit.edu	37	X	50051958	50051958	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chrX:50051958G>T	ENST00000376042.1	+	6	1087	c.789G>T	c.(787-789)atG>atT	p.M263I	CCNB3_ENST00000376038.1_Intron|CCNB3_ENST00000348603.2_Intron|CCNB3_ENST00000276014.7_Missense_Mutation_p.M263I			Q8WWL7	CCNB3_HUMAN	cyclin B3	263					cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	nucleus	protein kinase binding			breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					CCTTCTTTATGGAGTCAATGA	0.413000													23	71					1.55795e-14	2.4058e-14	0.001882	1	0
PNLIPRP3	119548	broad.mit.edu	37	10	118231387	118231387	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr10:118231387G>T	ENST00000369230.3	+	10	1314	c.1168G>T	c.(1168-1170)Gtc>Ttc	p.V390F		NM_001011709.2	NP_001011709.2	Q17RR3	LIPR3_HUMAN	pancreatic lipase-related protein 3	390	PLAT.				lipid catabolic process	extracellular region	triglyceride lipase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(29)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50				all cancers(201;0.0131)		GTTTGCCATTGTCAGGTAGGC	0.483000													12	37					1.15088e-07	1.43566e-07	0.004007	1	0
ACVRL1	94	broad.mit.edu	37	12	52309904	52309904	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr12:52309904C>A	ENST00000550683.1	+	7	1276	c.1175C>A	c.(1174-1176)cCc>cAc	p.P392H	ACVRL1_ENST00000388922.4_Missense_Mutation_p.P378H|ACVRL1_ENST00000419526.2_Missense_Mutation_p.P204H	NM_001077401.1	NP_001070869.1	P37023	ACVL1_HUMAN	activin A receptor type II-like 1	378	Protein kinase.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|blood vessel maturation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of endothelial cell migration|negative regulation of focal adhesion assembly|positive regulation of BMP signaling pathway|positive regulation of transcription, DNA-dependent|regulation of blood pressure|regulation of blood vessel endothelial cell migration|regulation of DNA replication|regulation of endothelial cell proliferation|transforming growth factor beta receptor signaling pathway|wound healing, spreading of epidermal cells	cell surface|integral to plasma membrane	activin binding|activin receptor activity, type I|ATP binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	20				BRCA - Breast invasive adenocarcinoma(357;0.0991)	Adenosine triphosphate(DB00171)	TACATGGCACCCGAGGTGCTG	0.627000													42	65					8.20599e-20	1.41793e-19	0.002852	1	0
GPR115	221393	broad.mit.edu	37	6	47682757	47682757	+	Silent	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr6:47682757C>T	ENST00000283303.2	+	6	2034	c.1776C>T	c.(1774-1776)tcC>tcT	p.S592S	GPR115_ENST00000327753.3_Silent_p.S592S|GPR115_ENST00000371220.1_Silent_p.S649S	NM_153838.3	NP_722580.3	Q8IZF3	GP115_HUMAN	G protein-coupled receptor 115	592					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	52						TTGGCAGTTCCAAGTCTCAGG	0.473000													12	116					0	0	0.001855	0	0
ELF1	1997	broad.mit.edu	37	13	41515310	41515310	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr13:41515310G>A	ENST00000239882.3	-	8	1317	c.1003C>T	c.(1003-1005)Cca>Tca	p.P335S	ELF1_ENST00000498824.1_5'UTR|ELF1_ENST00000442101.1_Missense_Mutation_p.P311S	NM_172373.3	NP_758961.1	P32519	ELF1_HUMAN	E74-like factor 1 (ets domain transcription factor)	335					positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37		Lung NSC(96;8.3e-05)|Prostate(109;0.0233)|Breast(139;0.0296)|Lung SC(185;0.0367)		all cancers(112;1.87e-08)|Epithelial(112;8.45e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000202)|GBM - Glioblastoma multiforme(144;0.00266)|BRCA - Breast invasive adenocarcinoma(63;0.072)		TTTACCCCTGGACTTGAAGAT	0.448000													11	83					0	0	0.002450	0	0
HCN1	348980	broad.mit.edu	37	5	45262811	45262811	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr5:45262811C>A	ENST00000303230.4	-	8	1942	c.1885G>T	c.(1885-1887)Gac>Tac	p.D629Y		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	629						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						ATCTCCCTGTCATGTTTCACA	0.448000													19	88					9.7654e-05	0.000109108	0.007413	1	0
COL8A2	1296	broad.mit.edu	37	1	36563225	36563225	+	Missense_Mutation	SNP	T	T	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:36563225T>C	ENST00000397799.1	-	4	2281	c.2057A>G	c.(2056-2058)tAc>tGc	p.Y686C	COL8A2_ENST00000303143.4_Missense_Mutation_p.Y686C|COL8A2_ENST00000481785.1_Missense_Mutation_p.Y621C			P25067	CO8A2_HUMAN	collagen, type VIII, alpha 2	686	C1q.|Nonhelical region (NC1).				angiogenesis|cell-cell adhesion|extracellular matrix organization	basement membrane|collagen	extracellular matrix structural constituent|protein binding, bridging			NS(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CTCCGTGGAGTAGAGGCCGTT	0.647000													11	28					0	0	0.008291	0	0
SIGLEC11	114132	broad.mit.edu	37	19	50453299	50453299	+	Silent	SNP	T	T	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr19:50453299T>A	ENST00000447370.2	-	11	2115	c.2025A>T	c.(2023-2025)acA>acT	p.T675T	SIGLEC11_ENST00000426971.2_Silent_p.T579T|CTC-326K19.6_ENST00000451973.1_Intron	NM_052884.2	NP_443116.2	Q96RL6	SIG11_HUMAN	sialic acid binding Ig-like lectin 11	675					cell adhesion	integral to membrane	sugar binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1)	32		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517)		GGGGCTGTCCTGTGTGGATCT	0.607000													7	19					0	0	0.004482	0	0
XG	7499	broad.mit.edu	37	X	2712644	2712644	+	Splice_Site	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chrX:2712644G>T	ENST00000426774.1	+	6	548	c.325_splice	c.e6+1	p.G109_splice	XG_ENST00000419513.2_Splice_Site_p.G108_splice|XG_ENST00000381174.5_Splice_Site_p.G108_splice	NM_001141920.1|NM_175569.2	NP_001135392.1|NP_780778.1	P55808	XG_HUMAN	Xg blood group	108						integral to membrane|plasma membrane				endometrium(1)|large_intestine(3)|lung(3)|ovary(1)	8		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				GCCGCCTGCAGGTAGGTGCCG	0.612000													5	10					3.59834e-05	4.09524e-05	0.001168	1	0
ZNF788	388507	broad.mit.edu	37	19	12222283	12222283	+	Translation_Start_Site	SNP	A	A	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr19:12222283A>T	ENST00000339302.4	+	0	558				ZNF20_ENST00000600335.1_Intron|ZNF788_ENST00000430298.2_3'UTR|ZNF788_ENST00000596883.1_3'UTR					zinc finger family member 788											endometrium(1)|haematopoietic_and_lymphoid_tissue(1)	2						CGCCATATAAATGTACATACT	0.433000													6	14					0	0	0.001168	0	0
DNAH1	25981	broad.mit.edu	37	3	52426606	52426606	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr3:52426606G>T	ENST00000420323.2	+	64	10440	c.10179G>T	c.(10177-10179)caG>caT	p.Q3393H		NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	3458	AAA 5 (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		TTGAGGACCAGATCCTGTACC	0.562000													8	7					3.09899e-07	3.80755e-07	0.004482	1	0
DENND5A	23258	broad.mit.edu	37	11	9199820	9199820	+	Missense_Mutation	SNP	T	T	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr11:9199820T>C	ENST00000328194.3	-	8	2085	c.1765A>G	c.(1765-1767)Ata>Gta	p.I589V	DENND5A_ENST00000530044.1_Missense_Mutation_p.I589V	NM_001243254.1|NM_015213.3	NP_001230183.1|NP_056028.2	Q6IQ26	DEN5A_HUMAN	DENN/MADD domain containing 5A	589										breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						TGACACATTATTTTGTTGTCA	0.468000													21	52					0	0	0.008871	0	0
TMEM260	54916	broad.mit.edu	37	14	57083900	57083900	+	Splice_Site	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr14:57083900G>A	ENST00000261556.6	+	9	1063		c.e9-1		TMEM260_ENST00000538838.1_Splice_Site|TMEM260_ENST00000536419.1_Splice_Site|TMEM260_ENST00000553335.1_Splice_Site	NM_017799.3	NP_060269.3			transmembrane protein 260																		ATTTTTTGTAGGGACAGACAG	0.264000													10	39					0	0	0.006214	0	0
DMD	1756	broad.mit.edu	37	X	32366641	32366641	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chrX:32366641G>A	ENST00000357033.4	-	38	5536	c.5330C>T	c.(5329-5331)tCc>tTc	p.S1777F	DMD_ENST00000378677.2_Missense_Mutation_p.S1773F	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	1777	Interaction with SYNM (By similarity).				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				CAAAGGAATGGAGGCCTAAAA	0.338000													6	18					0	0	0.001168	0	0
RAI2	10742	broad.mit.edu	37	X	17818977	17818977	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chrX:17818977G>C	ENST00000545871.1	-	3	1614	c.1154C>G	c.(1153-1155)tCt>tGt	p.S385C	RAI2_ENST00000331511.1_Missense_Mutation_p.S385C|RAI2_ENST00000451717.1_Missense_Mutation_p.S385C|RAI2_ENST00000415486.3_Missense_Mutation_p.S335C|RAI2_ENST00000360011.1_Missense_Mutation_p.S385C	NM_001172739.1|NM_001172743.1	NP_001166210.1|NP_001166214.1	Q9Y5P3	RAI2_HUMAN	retinoic acid induced 2	385					embryo development					breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	22	Hepatocellular(33;0.183)					AGGGGCAAAAGAAATTTCCAT	0.557000													8	49					0	0	0.004482	0	0
DGCR8	54487	broad.mit.edu	37	22	20093787	20093787	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr22:20093787G>T	ENST00000351989.3	+	10	2305	c.1876G>T	c.(1876-1878)Gag>Tag	p.E626*	DGCR8_ENST00000383024.2_Nonsense_Mutation_p.E593*|DGCR8_ENST00000407755.1_Nonsense_Mutation_p.E593*	NM_022720.6	NP_073557.3	Q8WYQ5	DGCR8_HUMAN	DGCR8 microprocessor complex subunit	626	DRBM 2.|Necessary for heme-binding and pri-miRNA processing.|Necessary for interaction with DROSHA.				primary miRNA processing	cytoplasm|microtubule cytoskeleton|nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding			NS(2)|breast(1)|endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	Colorectal(54;0.0993)					GATCCTCCACGAGTGCCTTAA	0.547000													12	42					2.80697e-09	3.71645e-09	0.000978	1	0
ATE1	11101	broad.mit.edu	37	10	123661976	123661976	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr10:123661976G>A	ENST00000369043.3	-	6	829	c.743C>T	c.(742-744)tCc>tTc	p.S248F	ATE1_ENST00000540606.1_Missense_Mutation_p.S241F|ATE1_ENST00000535655.1_Intron|ATE1_ENST00000481784.1_5'UTR|ATE1_ENST00000543447.1_Missense_Mutation_p.S133F|ATE1_ENST00000224652.6_Missense_Mutation_p.S248F|ATE1_ENST00000369040.3_Missense_Mutation_p.S152F	NM_007041.2	NP_008972.2	O95260	ATE1_HUMAN	arginyltransferase 1	248					protein arginylation	cytoplasm|nucleus	acyltransferase activity|arginyltransferase activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		all_neural(114;0.061)|Lung NSC(174;0.095)|all_lung(145;0.124)|Breast(234;0.212)				TGGCTGGTTGGATTTAGCCTT	0.413000													33	164					0	0	0.004878	0	0
KARS	3735	broad.mit.edu	37	16	75668151	75668151	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr16:75668151C>T	ENST00000319410.5	-	8	1040	c.919G>A	c.(919-921)Gtg>Atg	p.V307M	KARS_ENST00000302445.3_Missense_Mutation_p.V279M|KARS_ENST00000568378.1_Intron	NM_001130089.1	NP_001123561.1	Q15046	SYK_HUMAN	lysyl-tRNA synthetase	279					interspecies interaction between organisms|lysyl-tRNA aminoacylation|tRNA processing	cytosol|extracellular region|mitochondrial matrix|nucleus|plasma membrane|soluble fraction	ATP binding|lysine-tRNA ligase activity|metal ion binding|tRNA binding			kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	18					L-Lysine(DB00123)	GGCTTGGCCACGGCTCCCCCT	0.448000													32	55					0	0	0.008361	0	0
ANK3	288	broad.mit.edu	37	10	62038534	62038534	+	Nonsense_Mutation	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr10:62038534G>A	ENST00000280772.1	-	4	603	c.412C>T	c.(412-414)Cag>Tag	p.Q138*	ANK3_ENST00000503366.1_Nonsense_Mutation_p.Q121*|ANK3_ENST00000373827.2_Nonsense_Mutation_p.Q132*	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	138					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						AGGCTTACCTGAGATTGTGCA	0.423000													30	92					0	0	0.002096	0	0
BCL2	596	broad.mit.edu	37	18	60985850	60985850	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr18:60985850T>A	ENST00000398117.1	-	1	1511	c.50A>T	c.(49-51)aAg>aTg	p.K17M	BCL2_ENST00000589955.1_Missense_Mutation_p.K17M|BCL2_ENST00000444484.1_Missense_Mutation_p.K17M|BCL2_ENST00000333681.4_Missense_Mutation_p.K17M	NM_000633.2	NP_000624.2	P10415	BCL2_HUMAN	B-cell CLL/lymphoma 2	17					activation of pro-apoptotic gene products|anti-apoptosis|apoptosis in response to endoplasmic reticulum stress|B cell proliferation|B cell receptor signaling pathway|defense response to virus|female pregnancy|humoral immune response|induction of apoptosis by intracellular signals|negative regulation of cellular pH reduction|negative regulation of mitochondrial depolarization|negative regulation of neuron apoptosis|neuron apoptosis|positive regulation of B cell proliferation|positive regulation of cell growth|protein polyubiquitination|regulation of mitochondrial membrane permeability|regulation of mitochondrial membrane potential|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|regulation of transmembrane transporter activity|release of cytochrome c from mitochondria|response to cytokine stimulus|response to DNA damage stimulus|response to drug|response to iron ion|response to nicotine|response to toxin	endoplasmic reticulum membrane|mitochondrial outer membrane|nuclear membrane|pore complex	BH3 domain binding|channel activity|protease binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(106)|kidney(1)|large_intestine(1)|lung(3)	113		all_hematologic(56;1.18e-20)|Prostate(75;0.0872)		Lung(128;0.0234)|READ - Rectum adenocarcinoma(59;0.0935)	Docetaxel(DB01248)|Fludarabine(DB01073)|Melatonin(DB01065)|Paclitaxel(DB01229)|Rasagiline(DB01367)	ATGGATGTACTTCATCACTAT	0.647000			T	IGH@	"""NHL, CLL"""								26	58					0	0	0.006320	0	0
CXXC11	285093	broad.mit.edu	37	2	242815135	242815135	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr2:242815135C>G	ENST00000343216.3	+	2	1456	c.1428C>G	c.(1426-1428)ttC>ttG	p.F476L		NM_173821.2	NP_776182.2	Q14D33	CB085_HUMAN	CXXC finger protein 11	476						integral to membrane											CCATCCCCTTCGCAGTCTTCG	0.627000													21	69					0	0	0.010504	0	0
TTN	7273	broad.mit.edu	37	2	179442720	179442720	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr2:179442720G>T	ENST00000589042.1	-	322	68746	c.68522C>A	c.(68521-68523)cCa>cAa	p.P22841Q	TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P13776Q|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P13968Q|TTN_ENST00000591111.1_Missense_Mutation_p.P21200Q|TTN_ENST00000342992.6_Missense_Mutation_p.P20273Q|TTN_ENST00000359218.5_Missense_Mutation_p.P13901Q|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	21200	Ig-like 117.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTTACCAATTGGGTCCAGTGC	0.398000													26	52					9.57634e-11	1.32408e-10	0.003330	1	0
CCDC11	220136	broad.mit.edu	37	18	47753781	47753781	+	Silent	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr18:47753781G>A	ENST00000398545.4	-	8	1632	c.1515C>T	c.(1513-1515)cgC>cgT	p.R505R		NM_145020.3	NP_659457.2	Q96M91	CCD11_HUMAN	coiled-coil domain containing 11	505										endometrium(1)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|pancreas(1)|skin(1)	20				STAD - Stomach adenocarcinoma(97;2.66e-05)|Colorectal(21;7.57e-05)|Lung(128;0.00932)|READ - Rectum adenocarcinoma(32;0.164)		GGCATGCCTTGCGCATGGGAT	0.443000													12	38					0	0	0.000978	0	0
SLC38A8	146167	broad.mit.edu	37	16	84050766	84050766	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr16:84050766G>A	ENST00000299709.3	-	7	931	c.932C>T	c.(931-933)cCc>cTc	p.P311L		NM_001080442.1	NP_001073911.1	A6NNN8	S38A8_HUMAN	solute carrier family 38, member 8	311					amino acid transport|sodium ion transport	integral to membrane		p.P311R(1)		central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						GAGCACGATGGGGTAGACAGT	0.547000													12	18					0	0	0.001368	0	0
CNTN3	5067	broad.mit.edu	37	3	74334455	74334455	+	Splice_Site	SNP	C	C	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr3:74334455C>G	ENST00000263665.6	-	19	2732		c.e19+1			NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)						cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		AATATACTTACGCGTTTTCTT	0.428000													62	48					0	0	0.003610	0	0
RLF	6018	broad.mit.edu	37	1	40702175	40702175	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:40702175G>T	ENST00000372771.4	+	8	1828	c.1801G>T	c.(1801-1803)Gtg>Ttg	p.V601L		NM_012421.3	NP_036553.2	Q13129	RLF_HUMAN	rearranged L-myc fusion	601					chromosome organization|DNA integration|DNA mediated transformation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2)	68	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)			TGTTCCTCATGTGATGGAGCA	0.363000													16	31					6.72482e-11	9.34216e-11	0.003163	1	0
EBF1	1879	broad.mit.edu	37	5	158267100	158267100	+	Silent	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr5:158267100G>A	ENST00000313708.6	-	7	855	c.573C>T	c.(571-573)ttC>ttT	p.F191F	EBF1_ENST00000380654.4_Silent_p.F168F|EBF1_ENST00000518836.1_5'UTR|EBF1_ENST00000517373.1_Silent_p.F191F	NM_024007.3	NP_076870.1	Q9UH73	COE1_HUMAN	early B-cell factor 1	191					multicellular organismal development	nucleus	DNA binding|metal ion binding		HMGA2/EBF1(2)	breast(3)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42	Renal(175;0.00196)	Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TACATTTGAGGAAAAATTTCA	0.423000			T	HMGA2	lipoma								22	14					0	0	0.002780	0	0
CPS1	1373	broad.mit.edu	37	2	211523382	211523382	+	Silent	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr2:211523382C>A	ENST00000233072.5	+	31	3922	c.3726C>A	c.(3724-3726)gtC>gtA	p.V1242V	CPS1_ENST00000451903.2_Silent_p.V791V|CPS1_ENST00000430249.2_Silent_p.V1248V	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	1242	ATP-grasp 2.				carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		CATTCAACGTCCAATTTCTTG	0.438000													14	45					1.15088e-07	1.43566e-07	0.004007	1	0
UBQLNL	143630	broad.mit.edu	37	11	5537474	5537474	+	Silent	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr11:5537474C>T	ENST00000380184.1	-	1	461	c.198G>A	c.(196-198)caG>caA	p.Q66Q	HBG2_ENST00000380259.2_Intron	NM_145053.4	NP_659490.4	Q8IYU4	UBQLN_HUMAN	ubiquilin-like	66	Ubiquitin-like.									endometrium(1)|kidney(3)|large_intestine(9)|lung(13)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.136)		GTTGGTCCATCTGGCATTGGA	0.493000													14	28					0	0	0.002450	0	0
CST2	1470	broad.mit.edu	37	20	23804722	23804722	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr20:23804722G>T	ENST00000304725.2	-	3	431	c.361C>A	c.(361-363)Cag>Aag	p.Q121K		NM_001322.2	NP_001313.1	P09228	CYTT_HUMAN	cystatin SA	121						extracellular region	cysteine-type endopeptidase inhibitor activity			breast(1)|cervix(1)|large_intestine(1)|liver(1)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	10						TCGTAGATCTGGAAAGAGCAC	0.517000													17	29					1.67942e-08	2.16114e-08	0.006122	1	0
CDC14B	8555	broad.mit.edu	37	9	99314142	99314142	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr9:99314142C>A	ENST00000375241.1	-	5	884	c.433G>T	c.(433-435)Ggg>Tgg	p.G145W	CDC14B_ENST00000375236.1_Missense_Mutation_p.G145W|CDC14B_ENST00000265659.2_Missense_Mutation_p.G145W|CDC14B_ENST00000375242.3_Missense_Mutation_p.G108W|CDC14B_ENST00000375240.3_Missense_Mutation_p.G145W|CDC14B_ENST00000463569.1_Missense_Mutation_p.G145W	NM_003671.3|NM_033331.2	NP_003662.1|NP_201588.1	O60729	CC14B_HUMAN	cell division cycle 14B	145	A.				activation of anaphase-promoting complex activity|DNA repair|G2/M transition DNA damage checkpoint	nucleolus|nucleoplasm	protein binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)	15		Acute lymphoblastic leukemia(62;0.0559)				GGGGTTCTCCCCAAATATATA	0.328000													30	22					1.16021e-09	1.5487e-09	0.007291	1	0
GP1BA	2811	broad.mit.edu	37	17	4836761	4836761	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr17:4836761G>A	ENST00000329125.5	+	2	937	c.862G>A	c.(862-864)Gac>Aac	p.D288N		NM_000173.5	NP_000164.5	E7ES66	E7ES66_HUMAN	glycoprotein Ib (platelet), alpha polypeptide	288										central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(5)|stomach(1)|urinary_tract(1)	20						TGATGAAGGTGACACAGACCT	0.517000													20	51					0	0	0.001882	0	0
OR2M3	127062	broad.mit.edu	37	1	248366414	248366414	+	Silent	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:248366414G>T	ENST00000456743.1	+	1	83	c.45G>T	c.(43-45)ctG>ctT	p.L15L		NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M, member 3	15					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L15L(1)		endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			TCATCCTCCTGGGAATCTTCA	0.463000													52	187					4.09171e-25	7.5694e-25	0.003610	1	0
KHNYN	23351	broad.mit.edu	37	14	24901093	24901093	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr14:24901093G>C	ENST00000251343.5	+	3	765	c.626G>C	c.(625-627)tGg>tCg	p.W209S	KHNYN_ENST00000553935.1_Missense_Mutation_p.W209S|KHNYN_ENST00000556842.1_Missense_Mutation_p.W209S			O15037	KHNYN_HUMAN	KH and NYN domain containing	209										kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(3)	24						CTGGCTTCTTGGGAGGGGCGG	0.642000											OREG0022627	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	26	79					0	0	0.005443	0	0
UVRAG	7405	broad.mit.edu	37	11	75852056	75852056	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr11:75852056G>T	ENST00000356136.3	+	15	1940	c.1699G>T	c.(1699-1701)Gat>Tat	p.D567Y	UVRAG_ENST00000539288.1_Missense_Mutation_p.D195Y|UVRAG_ENST00000528420.1_Missense_Mutation_p.D466Y|UVRAG_ENST00000533454.1_Missense_Mutation_p.D195Y|UVRAG_ENST00000538870.1_Missense_Mutation_p.D123Y|UVRAG_ENST00000531818.1_Missense_Mutation_p.D195Y|UVRAG_ENST00000532130.1_Missense_Mutation_p.D195Y	NM_003369.3	NP_003360.2	Q9P2Y5	UVRAG_HUMAN	UV radiation resistance associated	567					DNA repair|positive regulation of autophagy	early endosome|late endosome|lysosome	protein binding	p.D567Y(1)		central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(15)|skin(5)|urinary_tract(2)	32						AAAAGGAGAGGATCTAGTTGG	0.527000													8	26					0.00448238	0.0047375	0.004482	1	0
PCDHB10	56126	broad.mit.edu	37	5	140572190	140572190	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr5:140572190G>T	ENST00000239446.4	+	1	249	c.65G>T	c.(64-66)gGa>gTa	p.G22V		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN		22					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTTTTTTGGGGAGTGTCCTTG	0.468000													34	54					4.92203e-23	8.88144e-23	0.006230	1	0
UNC93A	54346	broad.mit.edu	37	6	167717444	167717444	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr6:167717444C>A	ENST00000230256.3	+	5	838	c.663C>A	c.(661-663)ttC>ttA	p.F221L	UNC93A_ENST00000366829.2_Missense_Mutation_p.F179L	NM_018974.3	NP_061847.2	Q86WB7	UN93A_HUMAN	unc-93 homolog A (C. elegans)	221						integral to membrane|plasma membrane				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	40		Breast(66;7.62e-05)|Ovarian(120;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		TAGCTGCGTTCCTCCAACCCA	0.507000													17	30					6.94344e-10	9.29382e-10	0.006122	1	0
SLC22A7	10864	broad.mit.edu	37	6	43271936	43271936	+	Missense_Mutation	SNP	A	A	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr6:43271936A>T	ENST00000372585.5	+	10	1641	c.1546A>T	c.(1546-1548)Agg>Tgg	p.R516W	SLC22A7_ENST00000372589.3_Missense_Mutation_p.R514W|SLC22A7_ENST00000372574.3_Missense_Mutation_p.R514W	NM_153320.2	NP_696961.2	Q9Y694	S22A7_HUMAN	solute carrier family 22 (organic anion transporter), member 7	516						basolateral plasma membrane|integral to plasma membrane|membrane fraction	anion:anion antiporter activity|sodium-independent organic anion transmembrane transporter activity			NS(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(3)	26			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305)			GCCAGAGACGAGGCAGGCACA	0.602000													9	190					0	0	0.006214	0	0
TNN	63923	broad.mit.edu	37	1	175046639	175046639	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:175046639G>T	ENST00000239462.4	+	2	198	c.85G>T	c.(85-87)Gag>Tag	p.E29*		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	29					cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		AGCCACTCTGGAGCCTCCCGG	0.597000													8	19					9.95505e-16	1.57711e-15	0.002299	1	0
PNLIPRP3	119548	broad.mit.edu	37	10	118220478	118220478	+	Splice_Site	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr10:118220478G>T	ENST00000369230.3	+	6	712	c.565_splice	c.e6-1	p.G189_splice		NM_001011709.2	NP_001011709.2	Q17RR3	LIPR3_HUMAN	pancreatic lipase-related protein 3	189					lipid catabolic process	extracellular region	triglyceride lipase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(29)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50				all cancers(201;0.0131)		CTTTCTCTAGGGTTGGACCCA	0.423000													14	29					1.5842e-08	2.0476e-08	0.001855	1	0
UNC5D	137970	broad.mit.edu	37	8	35453098	35453098	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr8:35453098C>A	ENST00000287272.2	+	4	513	c.493C>A	c.(493-495)Cca>Aca	p.P165T	UNC5D_ENST00000416672.1_Missense_Mutation_p.P165T|UNC5D_ENST00000420357.1_Missense_Mutation_p.P165T|UNC5D_ENST00000453357.2_Missense_Mutation_p.P160T|UNC5D_ENST00000404895.2_Missense_Mutation_p.P165T			Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	165	Ig-like C2-type.				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)		TGAACAAGACCCACAAGGAAG	0.463000													22	53					4.4004e-07	5.35717e-07	0.003330	1	0
POTEG	404785	broad.mit.edu	37	14	19553759	19553759	+	Missense_Mutation	SNP	A	A	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr14:19553759A>T	ENST00000409832.3	+	1	395	c.343A>T	c.(343-345)Agc>Tgc	p.S115C		NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	115										cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						GAGCGGCAAGAGCAAAGTGGG	0.597000													28	406					0	0	0.002445	0	0
COL3A1	1281	broad.mit.edu	37	2	189859297	189859297	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr2:189859297G>C	ENST00000304636.3	+	19	1494	c.1324G>C	c.(1324-1326)Gag>Cag	p.E442Q	COL3A1_ENST00000317840.5_Missense_Mutation_p.E442Q	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	442	Triple-helical region.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding	p.E442*(2)		NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	TGCCAAAGGAGAGCCCGGACC	0.398000													13	55					0	0	0.004007	0	0
EHHADH	1962	broad.mit.edu	37	3	184910364	184910364	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr3:184910364G>C	ENST00000231887.3	-	7	1897	c.1822C>G	c.(1822-1824)Cac>Gac	p.H608D	EHHADH_ENST00000456310.1_Missense_Mutation_p.H512D	NM_001166415.1|NM_001966.3	NP_001159887.1|NP_001957.2	Q08426	ECHP_HUMAN	enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase	608						peroxisome	3-hydroxyacyl-CoA dehydrogenase activity|coenzyme binding|dodecenoyl-CoA delta-isomerase activity|enoyl-CoA hydratase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(2)|skin(3)	24	all_cancers(143;4.04e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.98e-32)|OV - Ovarian serous cystadenocarcinoma(80;5.55e-21)		NADH(DB00157)	GGTTCAATGTGATGGGTTTTT	0.438000													14	145					0	0	0.002450	0	0
DCUN1D1	54165	broad.mit.edu	37	3	182662962	182662962	+	Splice_Site	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr3:182662962C>A	ENST00000292782.4	-	7	854		c.e7-1		DCUN1D1_ENST00000469954.1_Splice_Site	NM_020640.2	NP_065691.2	Q96GG9	DCNL1_HUMAN	DCN1, defective in cullin neddylation 1, domain containing 1							ubiquitin ligase complex	protein binding			endometrium(2)|large_intestine(4)|lung(8)|ovary(1)	15	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		all cancers(12;2.54e-44)|Epithelial(37;4.71e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)			GGCCATGCTCCTGGAAAAAAG	0.373000													48	26					2.24722e-20	3.91994e-20	0.003610	1	0
RALGAPA1	253959	broad.mit.edu	37	14	36159114	36159114	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr14:36159114C>A	ENST00000258840.6	-	18	2893	c.2503G>T	c.(2503-2505)Gag>Tag	p.E835*	RALGAPA1_ENST00000382366.3_Nonsense_Mutation_p.E788*|RALGAPA1_ENST00000307138.6_Nonsense_Mutation_p.E788*|RALGAPA1_ENST00000389698.3_Nonsense_Mutation_p.E788*			Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)	788					activation of Ral GTPase activity	cytosol|mitochondrion|nucleus	protein heterodimerization activity|Ral GTPase activator activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						GGCTGCTCCTCATTCAAAGCA	0.428000													177	43					4.28478e-88	8.49429e-88	0.003610	1	0
MTERFD3	80298	broad.mit.edu	37	12	107371383	107371383	+	Silent	SNP	T	T	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr12:107371383T>C	ENST00000552029.1	-	2	3178	c.1110A>G	c.(1108-1110)aaA>aaG	p.K370K	MTERFD3_ENST00000240050.4_Silent_p.K370K|C12orf23_ENST00000551237.1_Intron|MTERFD3_ENST00000392830.2_Silent_p.K370K			Q49AM1	MTER3_HUMAN	MTERF domain containing 3	370					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial nucleoid	transcription regulatory region DNA binding			breast(1)|kidney(1)|large_intestine(2)|lung(3)	7						ATGGCCTTACTTTTTTGGCCT	0.373000													12	72					0	0	0.001368	0	0
PSG4	5672	broad.mit.edu	37	19	43702187	43702187	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr19:43702187C>T	ENST00000405312.3	-	3	908	c.671G>A	c.(670-672)aGt>aAt	p.S224N	PSG4_ENST00000433626.2_Intron|PSG4_ENST00000244295.9_Missense_Mutation_p.S224N	NM_002780.3	NP_002771.2	Q00888	PSG4_HUMAN	pregnancy specific beta-1-glycoprotein 4	224	Ig-like C2-type 1.				defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24		Prostate(69;0.00682)				GCGGCTGGCACTCACTGGGTT	0.517000													67	136					0	0	0.003610	0	0
PCDH11X	27328	broad.mit.edu	37	X	91131909	91131909	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chrX:91131909G>C	ENST00000373094.1	+	2	1515	c.670G>C	c.(670-672)Ggt>Cgt	p.G224R	PCDH11X_ENST00000504220.1_Missense_Mutation_p.G224R|PCDH11X_ENST00000361724.1_Missense_Mutation_p.G224R|PCDH11X_ENST00000373097.1_Missense_Mutation_p.G224R|PCDH11X_ENST00000361655.2_Missense_Mutation_p.G224R|PCDH11X_ENST00000395337.2_Missense_Mutation_p.G224R|PCDH11X_ENST00000373088.1_Missense_Mutation_p.G224R|PCDH11X_ENST00000406881.1_Missense_Mutation_p.G224R|PCDH11X_ENST00000298274.8_Missense_Mutation_p.G224R	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	224	Cadherin 2.				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						GGTTGAAGATGGTGGCTTTCC	0.413000													40	118					0	0	0.008740	0	0
DOCK8	81704	broad.mit.edu	37	9	421071	421071	+	Silent	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr9:421071G>T	ENST00000432829.2	+	32	4258	c.3942G>T	c.(3940-3942)cgG>cgT	p.R1314R	DOCK8_ENST00000382329.1_Silent_p.R849R|DOCK8_ENST00000453981.1_Silent_p.R1382R|DOCK8_ENST00000493666.2_3'UTR|DOCK8_ENST00000469391.1_Silent_p.R1282R	NM_203447.3	NP_982272.2	Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	1382	DHR-2.				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		TGCGCCGCCGGGCTCCAGGTG	0.572000													64	17					3.58576e-35	6.89425e-35	0.003610	1	0
MTERFD3	80298	broad.mit.edu	37	12	107371394	107371394	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr12:107371394G>C	ENST00000552029.1	-	2	3167	c.1099C>G	c.(1099-1101)Cag>Gag	p.Q367E	MTERFD3_ENST00000240050.4_Missense_Mutation_p.Q367E|C12orf23_ENST00000551237.1_Intron|MTERFD3_ENST00000392830.2_Missense_Mutation_p.Q367E			Q49AM1	MTER3_HUMAN	MTERF domain containing 3	367					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial nucleoid	transcription regulatory region DNA binding			breast(1)|kidney(1)|large_intestine(2)|lung(3)	7						TTTTTGGCCTGAATTTTGCCA	0.373000													12	76					0	0	0.001368	0	0
NHSL2	340527	broad.mit.edu	37	X	71360053	71360053	+	Silent	SNP	C	C	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chrX:71360053C>G	ENST00000373677.1	+	2	2819	c.1557C>G	c.(1555-1557)gtC>gtG	p.V519V	NHSL2_ENST00000535692.1_Silent_p.V519V|NHSL2_ENST00000540800.1_Silent_p.V885V|NHSL2_ENST00000510661.1_Silent_p.V654V			F5H593	F5H593_HUMAN	NHS-like 2	885										NS(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(10)|lung(7)|stomach(1)	28	Renal(35;0.156)					CAAGCTTGGTCCACAAGCCAC	0.552000													8	33					0	0	0.004482	0	0
NBAS	51594	broad.mit.edu	37	2	15496434	15496434	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr2:15496434C>T	ENST00000281513.5	-	33	3949	c.3924G>A	c.(3922-3924)atG>atA	p.M1308I	NBAS_ENST00000441750.1_Missense_Mutation_p.M1188I	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	1308										NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						CACCTGTGGCCATCAGCTCCT	0.448000													14	51					0	0	0.003163	0	0
KCNH3	23416	broad.mit.edu	37	12	49937805	49937805	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr12:49937805G>A	ENST00000257981.6	+	6	1191	c.931G>A	c.(931-933)Gtc>Atc	p.V311I		NM_012284.1	NP_036416.1	Q9ULD8	KCNH3_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 3	311					regulation of transcription, DNA-dependent	integral to membrane	two-component sensor activity|voltage-gated potassium channel activity			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36						CCTGCTGGATGTCATCGCAGC	0.597000													44	96					0	0	0.003610	0	0
TTC29	83894	broad.mit.edu	37	4	147796051	147796051	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr4:147796051C>A	ENST00000513335.1	-	8	893	c.694G>T	c.(694-696)Gaa>Taa	p.E232*	TTC29_ENST00000398886.4_Nonsense_Mutation_p.E232*|TTC29_ENST00000325106.4_Nonsense_Mutation_p.E206*			Q8NA56	TTC29_HUMAN	tetratricopeptide repeat domain 29	206							binding	p.E206K(2)		breast(2)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	26	all_hematologic(180;0.151)					TGGAATGCTTCATAATGCTCA	0.448000													21	10					3.83957e-06	4.50252e-06	0.002780	1	0
SPTA1	6708	broad.mit.edu	37	1	158613134	158613134	+	Silent	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:158613134G>T	ENST00000368148.3	-	31	4600	c.4420C>A	c.(4420-4422)Cgg>Agg	p.R1474R	SPTA1_ENST00000368147.3_Silent_p.R1474R	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	1474					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CGTTGGAGCCGCGTAGCAATC	0.438000													10	29					2.17888e-05	2.4933e-05	0.006214	1	0
BTNL2	56244	broad.mit.edu	37	6	32363858	32363858	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr6:32363858C>T	ENST00000454136.3	-	5	1040	c.1036G>A	c.(1036-1038)Gat>Aat	p.D346N	BTNL2_ENST00000429232.2_Missense_Mutation_p.D253N|BTNL2_ENST00000414363.1_Missense_Mutation_p.D136N|BTNL2_ENST00000374993.1_Missense_Mutation_p.D346N|BTNL2_ENST00000544175.1_Missense_Mutation_p.D69N|BTNL2_ENST00000540315.1_Missense_Mutation_p.D136N|BTNL2_ENST00000374995.3_Missense_Mutation_p.D252N			Q9UIR0	BTNL2_HUMAN	butyrophilin-like 2 (MHC class II associated)	346	Ig-like V-type 3.					integral to membrane				central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)|urinary_tract(1)	19						TAGACATCATCTTTTTCAAAA	0.473000													13	95					0	0	0.002450	0	0
CHM	1121	broad.mit.edu	37	X	85128136	85128136	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chrX:85128136C>A	ENST00000357749.2	-	14	1720	c.1691G>T	c.(1690-1692)tGt>tTt	p.C564F	CHM_ENST00000467744.1_Intron|CHM_ENST00000537751.1_Missense_Mutation_p.C416F	NM_000390.2	NP_000381.1	P24386	RAE1_HUMAN	choroideremia (Rab escort protein 1)	564					intracellular protein transport|protein geranylgeranylation|response to stimulus|visual perception	Rab-protein geranylgeranyltransferase complex	GTPase activator activity|Rab geranylgeranyltransferase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|prostate(1)	20		all_lung(315;5.41e-06)				ATCATTATAACAGCTCCTGCT	0.368000													7	26					0.000442599	0.000484186	0.006214	1	0
UBE2A	7319	broad.mit.edu	37	X	118717179	118717179	+	Silent	SNP	T	T	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chrX:118717179T>A	ENST00000371569.5	+	3	1441	c.195T>A	c.(193-195)cgT>cgA	p.R65R	UBE2A_ENST00000346330.3_Silent_p.R110R|UBE2A_ENST00000371558.2_Silent_p.R140R	NM_181777.1	NP_861442.1	P49459	UBE2A_HUMAN	ubiquitin-conjugating enzyme E2A	140					histone H2A ubiquitination|positive regulation of cell proliferation|postreplication repair|protein autoubiquitination|protein K11-linked ubiquitination|protein K48-linked ubiquitination|response to UV|ubiquitin-dependent protein catabolic process		ATP binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity			haematopoietic_and_lymphoid_tissue(1)|lung(7)	8						ATGAAAAGCGTGTTTCTGCAA	0.438000								Rad6 pathway					26	85					0	0	0.006320	0	0
LHX2	9355	broad.mit.edu	37	9	126794863	126794863	+	Silent	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr9:126794863C>A	ENST00000373615.4	+	5	1837	c.1098C>A	c.(1096-1098)acC>acA	p.T366T		NM_004789.3	NP_004780.3	P50458	LHX2_HUMAN	LIM homeobox 2	366						nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)	10						CGCCCACCACCCTGACAGACT	0.647000													13	13					2.27111e-07	2.79507e-07	0.001368	1	0
SMARCA2	6595	broad.mit.edu	37	9	2110400	2110400	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr9:2110400G>A	ENST00000382203.1	+	24	3648	c.3439G>A	c.(3439-3441)Gac>Aac	p.D1147N	SMARCA2_ENST00000382194.1_Missense_Mutation_p.D1147N|SMARCA2_ENST00000349721.2_Missense_Mutation_p.D1147N|SMARCA2_ENST00000357248.2_Missense_Mutation_p.D1147N			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	1147	Helicase C-terminal.				chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		CTTTGACAGCGACTGGAATCC	0.483000													12	10					0	0	0.001855	0	0
TRMT6	51605	broad.mit.edu	37	20	5922665	5922665	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr20:5922665C>A	ENST00000203001.2	-	8	1174	c.1044G>T	c.(1042-1044)agG>agT	p.R348S	TRMT6_ENST00000473131.1_5'UTR|TRMT6_ENST00000453074.2_Missense_Mutation_p.R178S	NM_015939.3	NP_057023.2	Q9UJA5	TRM6_HUMAN	tRNA methyltransferase 6 homolog (S. cerevisiae)	348					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						CTTCTTGTCTCCTCTGTTTTT	0.428000													39	68					1.465e-08	1.90191e-08	0.008740	1	0
HADHA	3030	broad.mit.edu	37	2	26457193	26457193	+	Silent	SNP	T	T	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr2:26457193T>C	ENST00000380649.3	-	5	474	c.345A>G	c.(343-345)gaA>gaG	p.E115E	HADHA_ENST00000461025.1_5'UTR|HADHA_ENST00000457468.2_Silent_p.E28E	NM_000182.4	NP_000173.2	P40939	ECHA_HUMAN	hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit	115					fatty acid beta-oxidation	fatty acid beta-oxidation multienzyme complex|mitochondrial nucleoid|nucleolus	3-hydroxyacyl-CoA dehydrogenase activity|acetyl-CoA C-acetyltransferase activity|coenzyme binding|enoyl-CoA hydratase activity|long-chain-3-hydroxyacyl-CoA dehydrogenase activity|protein binding			autonomic_ganglia(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(4)|skin(1)	30	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				NADH(DB00157)	GCTGTGTTACTTCTTGAAGGG	0.388000													25	69					0	0	0.007291	0	0
MYO3A	53904	broad.mit.edu	37	10	26446271	26446271	+	Silent	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr10:26446271G>T	ENST00000265944.5	+	26	2992	c.2826G>T	c.(2824-2826)gtG>gtT	p.V942V	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	942	Myosin head-like.				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						CTAAAATGGTGGTGGGCCAAC	0.393000													18	12					8.10497e-08	1.0206e-07	0.010504	1	0
NMT1	4836	broad.mit.edu	37	17	43175843	43175843	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr17:43175843G>T	ENST00000592782.1	+	8	938	c.807G>T	c.(805-807)agG>agT	p.R269S	NMT1_ENST00000258960.2_Missense_Mutation_p.R269S			P30419	NMT1_HUMAN	N-myristoyltransferase 1	269					activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals|N-terminal protein myristoylation|protein lipoylation	actin cytoskeleton|cell junction|cytosol	glycylpeptide N-tetradecanoyltransferase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)	8		Prostate(33;0.155)				AGATCACCAGGCGGGTTCACC	0.527000													51	81					3.76525e-18	6.29831e-18	0.003610	1	0
COL22A1	169044	broad.mit.edu	37	8	139791781	139791781	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr8:139791781G>T	ENST00000303045.6	-	14	2121	c.1675C>A	c.(1675-1677)Ccg>Acg	p.P559T	COL22A1_ENST00000435777.1_Missense_Mutation_p.P559T	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	559	Collagen-like 2.|Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			GGCAGCCCCGGCTCTCCCAGC	0.607000										HNSCC(7;0.00092)			27	27					8.16721e-17	1.32683e-16	0.002096	1	0
OR2T2	401992	broad.mit.edu	37	1	248616317	248616317	+	Silent	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:248616317C>A	ENST00000342927.3	+	1	241	c.219C>A	c.(217-219)atC>atA	p.I73I		NM_001004136.1	NP_001004136.1	Q6IF00	OR2T2_HUMAN	olfactory receptor, family 2, subfamily T, member 2	73					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	37	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TGGATACCATCTACATCTGTA	0.512000													11	113					6.44725e-10	8.66128e-10	0.002299	1	0
RPS6KA4	8986	broad.mit.edu	37	11	64135651	64135651	+	Silent	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr11:64135651G>T	ENST00000528057.1	+	10	1207	c.1119G>T	c.(1117-1119)gcG>gcT	p.A373A	RPS6KA4_ENST00000334205.4_Silent_p.A373A|RPS6KA4_ENST00000294261.4_Intron	NM_001006944.1	NP_001006945.1	O75676	KS6A4_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 4	373					axon guidance|histone phosphorylation|interleukin-1-mediated signaling pathway|intracellular protein kinase cascade|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|magnesium ion binding|mitogen-activated protein kinase p38 binding|ribosomal protein S6 kinase activity			breast(1)|endometrium(3)|lung(7)|ovary(1)|prostate(1)	13						ACAACAACGCGGTGATGACCG	0.667000													17	54					1.67942e-08	2.16114e-08	0.006122	1	0
RAD51AP1	10635	broad.mit.edu	37	12	4657984	4657984	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr12:4657984G>C	ENST00000228843.9	+	7	639	c.589G>C	c.(589-591)Gaa>Caa	p.E197Q	RAD51AP1_ENST00000352618.4_Missense_Mutation_p.E180Q|RAD51AP1_ENST00000543041.1_Missense_Mutation_p.E62Q|RAD51AP1_ENST00000321524.7_Missense_Mutation_p.E197Q|RAD51AP1_ENST00000544927.1_Missense_Mutation_p.E180Q	NM_001130862.1	NP_001124334.1	Q96B01	R51A1_HUMAN	RAD51 associated protein 1	197					double-strand break repair via homologous recombination		double-stranded DNA binding|protein binding|RNA binding|single-stranded DNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)	13			Colorectal(7;0.00306)|COAD - Colon adenocarcinoma(12;0.0389)			TAATGACACTGAACCAGACTT	0.408000													38	50					0	0	0.006230	0	0
RADIL	55698	broad.mit.edu	37	7	4856904	4856904	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr7:4856904T>A	ENST00000399583.3	-	7	1881	c.1694A>T	c.(1693-1695)tAc>tTc	p.Y565F	RADIL_ENST00000538469.1_Missense_Mutation_p.Y325F|RADIL_ENST00000536091.1_Silent_p.V511V	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN	Ras association and DIL domains	565	Dilute.				cell adhesion|multicellular organismal development|signal transduction		protein binding			NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		CTGGAAGGCGTACAGCACCAC	0.632000													35	12					0	0	0.002852	0	0
PKHD1	5314	broad.mit.edu	37	6	51927327	51927327	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr6:51927327G>T	ENST00000371117.3	-	14	1383	c.1108C>A	c.(1108-1110)Caa>Aaa	p.Q370K	PKHD1_ENST00000340994.4_Missense_Mutation_p.Q370K	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	370					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					CTGAAAGGTTGTCCTTCCTGT	0.488000													29	97					5.45727e-16	8.74952e-16	0.008361	1	0
IL21R	50615	broad.mit.edu	37	16	27455949	27455949	+	Silent	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr16:27455949G>A	ENST00000337929.3	+	6	1067	c.594G>A	c.(592-594)ctG>ctA	p.L198L	IL21R_ENST00000564583.1_3'UTR|IL21R_ENST00000395754.4_Silent_p.L198L|IL21R_ENST00000564089.1_Silent_p.L198L|IL21R_ENST00000395755.1_Silent_p.L198L	NM_181078.2	NP_851564.1	Q9HBE5	IL21R_HUMAN	interleukin 21 receptor	198	Fibronectin type-III.				natural killer cell activation	integral to membrane	interleukin-21 receptor activity			breast(2)|large_intestine(3)|lung(1)|ovary(2)	8						GCTATGAGCTGCAGGTGCGGG	0.592000			T	BCL6	NHL								51	35					0	0	0.003610	0	0
ABCC6	368	broad.mit.edu	37	16	16297269	16297269	+	Silent	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr16:16297269G>A	ENST00000205557.7	-	8	1025	c.996C>T	c.(994-996)ctC>ctT	p.L332L	ABCC6_ENST00000574094.1_5'UTR	NM_001171.5	NP_001162.4	O95255	MRP6_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 6	332	ABC transmembrane type-1 1.				response to drug|visual perception	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)		GGACTCACCTGAGCAGCTTGG	0.577000													10	25					0	0	0.000978	0	0
DOCK7	85440	broad.mit.edu	37	1	63001286	63001286	+	Silent	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:63001286C>A	ENST00000251157.5	-	29	3522	c.3489G>T	c.(3487-3489)acG>acT	p.T1163T	DOCK7_ENST00000340370.5_Silent_p.T1132T	NM_001271999.1	NP_001258928.1	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	1163					activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						CTTGTACATTCGTAGAAAATC	0.398000													13	22					0.00498961	0.00525467	0.004990	1	0
BLOC1S3	388552	broad.mit.edu	37	19	45683049	45683049	+	Silent	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr19:45683049G>T	ENST00000433642.2	+	2	591	c.495G>T	c.(493-495)ggG>ggT	p.G165G	BLOC1S3_ENST00000587722.1_Silent_p.G165G	NM_212550.3	NP_997715.1	Q6QNY0	BL1S3_HUMAN	biogenesis of lysosomal organelles complex-1, subunit 3	165					cellular membrane organization|eye development|melanosome organization|platelet activation|platelet dense granule organization|post-Golgi vesicle-mediated transport	BLOC-1 complex	identical protein binding			ovary(1)|skin(1)	2		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00863)|GBM - Glioblastoma multiforme(486;0.231)		TGGCGCGCGGGGACCTTTGTG	0.761000									Hermansky-Pudlak syndrome				11	5					3.86212e-05	4.3717e-05	0.008291	1	0
ROBO1	6091	broad.mit.edu	37	3	78656106	78656106	+	Silent	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr3:78656106C>T	ENST00000436010.2	-	27	5401	c.4404G>A	c.(4402-4404)gtG>gtA	p.V1468V	ROBO1_ENST00000466906.1_5'UTR|ROBO1_ENST00000467549.1_Silent_p.V1407V|ROBO1_ENST00000464233.1_Silent_p.V1507V|ROBO1_ENST00000495273.1_Silent_p.V1462V			Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	1507					activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		GTTTTGGCACCACTACAGGTC	0.473000													52	41					0	0	0.003610	0	0
EMID1	129080	broad.mit.edu	37	22	29628272	29628272	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr22:29628272G>T	ENST00000334018.6	+	8	892	c.704G>T	c.(703-705)gGc>gTc	p.G235V	EMID1_ENST00000404755.3_Missense_Mutation_p.G235V|EMID1_ENST00000404820.3_Missense_Mutation_p.G235V|EMID1_ENST00000484039.1_3'UTR	NM_001267895.1|NM_133455.3	NP_001254824.1|NP_597712.2	Q96A84	EMID1_HUMAN	EMI domain containing 1	233	Collagen-like.					collagen				NS(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(2)|skin(3)	12						GGGAGCCCTGGCCGGGCTGGA	0.697000													20	47					7.87624e-14	1.19735e-13	0.002780	1	0
MIR381HG	378881	broad.mit.edu	37	14	101512838	101512838	+	RNA	SNP	G	G	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr14:101512838G>C	ENST00000553692.1	+	0	28				MIR487B_ENST00000385021.1_RNA																							TTTTGCTCATGTCGAATCGTA	0.478000													6	31					0	0	0.001168	0	0
CALCR	799	broad.mit.edu	37	7	93067545	93067545	+	Silent	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr7:93067545G>T	ENST00000359558.2	-	12	1241	c.942C>A	c.(940-942)acC>acA	p.T314T	CALCR_ENST00000426151.1_Silent_p.T280T|CALCR_ENST00000360249.4_Silent_p.T296T|CALCR_ENST00000394441.1_Silent_p.T280T|CALCR_ENST00000421592.1_Silent_p.T296T	NM_001164737.1	NP_001158209.1	P30988	CALCR_HUMAN	calcitonin receptor	296					activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus	integral to plasma membrane	calcitonin binding|calcitonin receptor activity|protein binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Salmon Calcitonin(DB00017)	ACACGGCCCTGGTAATAGCAT	0.383000													313	40					3.91224e-161	7.78732e-161	0.003610	1	0
KRTAP9-2	83899	broad.mit.edu	37	17	39383169	39383169	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr17:39383169C>A	ENST00000377721.3	+	1	270	c.263C>A	c.(262-264)cCc>cAc	p.P88H	KRTAP9-2_ENST00000455970.2_Splice_Site_p.P72_splice	NM_031961.2	NP_114167.2	Q9BYQ4	KRA92_HUMAN	keratin associated protein 9-2	88	17 X 5 AA repeats of C-C-[RQVSGE]-[SPTQ]- [TASP].					keratin filament	protein binding			large_intestine(1)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	11		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			TGCTGCCAGCCCACCTGCTGT	0.617000													41	48					4.64027e-19	7.93388e-19	0.003610	1	0
RGPD4	285190	broad.mit.edu	37	2	108499164	108499164	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr2:108499164C>A	ENST00000408999.3	+	22	5178	c.5101C>A	c.(5101-5103)Caa>Aaa	p.Q1701K	RGPD4_ENST00000354986.4_Missense_Mutation_p.Q1701K	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	1701					intracellular transport		binding			breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						GGAAAGGAATCAAGAGCAAGA	0.408000													25	101					2.44723e-14	3.77507e-14	0.004656	1	0
COL20A1	57642	broad.mit.edu	37	20	61945462	61945462	+	Silent	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr20:61945462C>A	ENST00000422202.1	+	18	2486	c.2418C>A	c.(2416-2418)ccC>ccA	p.P806P	COL20A1_ENST00000358894.6_Silent_p.P799P|COL20A1_ENST00000326996.6_Silent_p.P799P|COL20A1_ENST00000435874.1_Silent_p.P806P			Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	799	Fibronectin type-III 6.				cell adhesion	collagen|extracellular space	structural molecule activity			NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					TGACACTGCCCGACCTGCAGG	0.637000													6	16					0.00116845	0.00125945	0.001168	1	0
GPR124	25960	broad.mit.edu	37	8	37693152	37693152	+	Silent	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr8:37693152C>A	ENST00000412232.2	+	13	1927	c.1914C>A	c.(1912-1914)ccC>ccA	p.P638P	GPR124_ENST00000315215.7_Intron	NM_032777.9	NP_116166.9	Q96PE1	GP124_HUMAN	G protein-coupled receptor 124	638					central nervous system development|endothelial cell migration|neuropeptide signaling pathway|regulation of angiogenesis|regulation of chemotaxis|sprouting angiogenesis	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37			BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			CCCCGGTGCCCCCAGACTGCA	0.667000													51	69					4.1673e-28	7.83774e-28	0.003610	1	0
TCF4	6925	broad.mit.edu	37	18	52896251	52896251	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr18:52896251C>T	ENST00000354452.3	-	18	2317	c.1706G>A	c.(1705-1707)cGg>cAg	p.R569Q	TCF4_ENST00000543082.1_Missense_Mutation_p.R523Q|TCF4_ENST00000567880.1_Missense_Mutation_p.R505Q|TCF4_ENST00000564228.1_Missense_Mutation_p.R494Q|TCF4_ENST00000568673.1_Missense_Mutation_p.R545Q|TCF4_ENST00000540999.1_Missense_Mutation_p.R541Q|TCF4_ENST00000356073.4_Missense_Mutation_p.R565Q|TCF4_ENST00000566286.1_Missense_Mutation_p.R562Q|TCF4_ENST00000570177.2_Missense_Mutation_p.R435Q|TCF4_ENST00000561831.3_Missense_Mutation_p.R405Q|TCF4_ENST00000564999.1_Missense_Mutation_p.R565Q|TCF4_ENST00000568740.1_Missense_Mutation_p.R540Q|TCF4_ENST00000537578.1_Missense_Mutation_p.R545Q|TCF4_ENST00000544241.2_Missense_Mutation_p.R498Q|TCF4_ENST00000570287.2_Missense_Mutation_p.R405Q|TCF4_ENST00000564403.2_Missense_Mutation_p.R575Q|TCF4_ENST00000566279.1_Missense_Mutation_p.R509Q|TCF4_ENST00000561992.1_Missense_Mutation_p.R435Q|TCF4_ENST00000457482.3_Missense_Mutation_p.R409Q|TCF4_ENST00000398339.1_Missense_Mutation_p.R671Q|TCF4_ENST00000537856.3_Missense_Mutation_p.R435Q|TCF4_ENST00000565018.2_Missense_Mutation_p.R569Q	NM_001083962.1	NP_001077431.1	P15884	ITF2_HUMAN	transcription factor 4	565					positive regulation of neuron differentiation|protein-DNA complex assembly|transcription initiation from RNA polymerase II promoter	transcription factor complex	E-box binding|protein C-terminus binding|protein heterodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity|TFIIB-class binding transcription factor activity|TFIIB-class transcription factor binding			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	41				Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718)		GGCCATCCTCCGCTCCTTCTC	0.552000													34	84					0	0	0.003214	0	0
GYG2	8908	broad.mit.edu	37	X	2773087	2773087	+	Silent	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chrX:2773087G>A	ENST00000381163.3	+	6	753	c.471G>A	c.(469-471)ccG>ccA	p.P157P	GYG2_ENST00000542787.1_Silent_p.P157P|GYG2_ENST00000338623.5_Silent_p.P157P|GYG2_ENST00000398806.3_Silent_p.P126P|GYG2_ENST00000381161.1_3'UTR	NM_001079855.1|NM_001184702.1|NM_003918.2	NP_001073324.1|NP_001171631.1|NP_003909.2	O15488	GLYG2_HUMAN	glycogenin 2	157					glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|soluble fraction	glycogenin glucosyltransferase activity	p.P157P(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)	13		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CTGCGGCCCCGGACCCCGGAT	0.557000													25	57					0	0	0.003954	0	0
OR4C16	219428	broad.mit.edu	37	11	55340052	55340052	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr11:55340052C>A	ENST00000314634.3	+	1	449	c.449C>A	c.(448-450)tCc>tAc	p.S150Y		NM_001004701.2	NP_001004701.2	Q8NGL9	OR4CG_HUMAN	olfactory receptor, family 4, subfamily C, member 16 (gene/pseudogene)	150					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41		all_epithelial(135;0.0748)				TGGGTGGGATCCTGTGTGCAT	0.498000													26	64					4.26978e-12	6.12294e-12	0.003330	1	0
ITGA7	3679	broad.mit.edu	37	12	56096669	56096669	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr12:56096669C>A	ENST00000257880.7	-	3	620	c.401G>T	c.(400-402)gGg>gTg	p.G134V	ITGA7_ENST00000452168.2_Intron|ITGA7_ENST00000257879.6_Missense_Mutation_p.G134V|ITGA7_ENST00000394230.2_Missense_Mutation_p.G134V|ITGA7_ENST00000394229.2_Missense_Mutation_p.G134V|ITGA7_ENST00000553804.1_Missense_Mutation_p.G134V|ITGA7_ENST00000347027.6_Missense_Mutation_p.G134V|ITGA7_ENST00000555728.1_Missense_Mutation_p.G134V			Q13683	ITA7_HUMAN	integrin, alpha 7	134					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						AATCTTGCCCCCAGGCCCCTG	0.512000													25	47					1.26454e-06	1.51435e-06	0.005443	1	0
OR2T1	26696	broad.mit.edu	37	1	248569867	248569867	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:248569867G>T	ENST00000366474.1	+	1	572	c.572G>T	c.(571-573)tGt>tTt	p.C191F		NM_030904.1	NP_112166.1	O43869	OR2T1_HUMAN	olfactory receptor, family 2, subfamily T, member 1	191					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	39	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CGCCGGGTCTGTTGGATGATT	0.547000													51	41					6.9144e-35	1.32767e-34	0.003610	1	0
PIK3C2G	5288	broad.mit.edu	37	12	18650569	18650569	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr12:18650569G>T	ENST00000433979.1	+	21	2896	c.2780G>T	c.(2779-2781)cGt>cTt	p.R927L	PIK3C2G_ENST00000538779.1_Missense_Mutation_p.R968L|PIK3C2G_ENST00000266497.5_Missense_Mutation_p.R927L	NM_004570.4	NP_004561.3	O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	927	PI3K/PI4K.				cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				GATGATCTTCGTCAGGATATG	0.363000													15	29					5.3912e-06	6.28189e-06	0.006122	1	0
SHOX2	6474	broad.mit.edu	37	3	157815970	157815970	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr3:157815970G>T	ENST00000490689.2	-	5	1952	c.419C>A	c.(418-420)cCc>cAc	p.P140H	SHOX2_ENST00000425436.3_Missense_Mutation_p.P281H|SHOX2_ENST00000389589.4_Missense_Mutation_p.P305H|SHOX2_ENST00000483851.2_Missense_Mutation_p.P269H|SHOX2_ENST00000441443.2_Missense_Mutation_p.P140H			O60902	SHOX2_HUMAN	short stature homeobox 2	281					nervous system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(10)|skin(3)|upper_aerodigestive_tract(1)	20			Lung(72;0.00318)|LUSC - Lung squamous cell carcinoma(72;0.0043)			CAGTCCGAAGGGCGGTGCTGG	0.711000													71	54					2.32817e-41	4.53576e-41	0.003610	1	0
PRG4	10216	broad.mit.edu	37	1	186276708	186276708	+	Silent	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:186276708C>A	ENST00000445192.2	+	7	1902	c.1857C>A	c.(1855-1857)acC>acA	p.T619T	PRG4_ENST00000367486.3_Silent_p.T576T|PRG4_ENST00000367485.4_Silent_p.T526T|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367483.4_Silent_p.T578T	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	619	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CTGCACCCACCACCCCCAAGA	0.667000													26	22					0.000147802	0.000164636	0.006320	1	0
ABCG4	64137	broad.mit.edu	37	11	119027100	119027100	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr11:119027100G>A	ENST00000307417.3	+	7	1112	c.748G>A	c.(748-750)Ggc>Agc	p.G250S	ABCG4_ENST00000449422.2_Missense_Mutation_p.G250S|ABCG4_ENST00000531739.1_Missense_Mutation_p.G250S	NM_022169.4	NP_071452.2	Q9H172	ABCG4_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 4	250	ABC transporter.				cholesterol efflux	integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(28)|ovary(2)|prostate(1)|skin(1)	44	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		GGCACAGGGGGGCCGTACCAT	0.587000													43	103					0	0	0.008740	0	0
SCN3A	6328	broad.mit.edu	37	2	165956881	165956881	+	Silent	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr2:165956881G>T	ENST00000360093.3	-	22	4388	c.3897C>A	c.(3895-3897)gcC>gcA	p.A1299A	SCN3A_ENST00000409101.3_Silent_p.A1250A|SCN3A_ENST00000283254.7_Silent_p.A1299A	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	1299						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	ATGATTTGATGGCACCGAGTT	0.383000													18	83					8.00594e-06	9.2917e-06	0.007413	1	0
NCOR2	9612	broad.mit.edu	37	12	124934381	124934381	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr12:124934381C>A	ENST00000356219.3	-	8	950	c.795G>T	c.(793-795)caG>caT	p.Q265H	NCOR2_ENST00000404121.2_5'UTR|NCOR2_ENST00000429285.2_Missense_Mutation_p.Q265H|NCOR2_ENST00000405201.1_Missense_Mutation_p.Q265H|NCOR2_ENST00000404621.1_Missense_Mutation_p.Q265H|NCOR2_ENST00000397355.1_Missense_Mutation_p.Q265H	NM_006312.5	NP_006303.4	Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	265	Interaction with SIN3A/B (By similarity).				cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		TCTCATGATACTGCCGGGTGT	0.612000													12	43					1.5842e-08	2.0476e-08	0.001855	1	0
OR4P4	81300	broad.mit.edu	37	11	55406058	55406058	+	Silent	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr11:55406058G>A	ENST00000314612.2	+	1	225	c.225G>A	c.(223-225)gtG>gtA	p.V75V		NM_001004124.1	NP_001004124.1	Q8NGL7	OR4P4_HUMAN	olfactory receptor, family 4, subfamily P, member 4	75					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1)	40						CATCCACAGTGACCCCCAAAT	0.408000													20	80					0	0	0.008871	0	0
MCEE	84693	broad.mit.edu	37	2	71337190	71337190	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr2:71337190T>A	ENST00000244217.5	-	3	458	c.441A>T	c.(439-441)gaA>gaT	p.E147D	MCEE_ENST00000462609.2_5'UTR	NM_032601.3	NP_115990.3	Q96PE7	MCEE_HUMAN	methylmalonyl CoA epimerase	147					fatty acid beta-oxidation|L-methylmalonyl-CoA metabolic process	mitochondrial matrix	methylmalonyl-CoA epimerase activity			kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9						TTTTGACCTCTTCACTTAGAC	0.373000													10	97					0	0	0.001368	0	0
IFT122	55764	broad.mit.edu	37	3	129195286	129195286	+	Silent	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr3:129195286G>T	ENST00000296266.3	+	11	1290	c.1098G>T	c.(1096-1098)ggG>ggT	p.G366G	IFT122_ENST00000507564.1_Silent_p.G307G|IFT122_ENST00000504021.1_Silent_p.G209G|IFT122_ENST00000431818.2_Silent_p.G165G|IFT122_ENST00000348417.2_Silent_p.G315G|IFT122_ENST00000349441.2_Silent_p.G204G|IFT122_ENST00000347300.2_Silent_p.G256G|IFT122_ENST00000440957.2_Silent_p.G106G	NM_052985.2	NP_443711.2	Q9HBG6	IF122_HUMAN	intraflagellar transport 122 homolog (Chlamydomonas)	315					camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure	microtubule basal body|photoreceptor connecting cilium				breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						TGCGGCTTGGGACTGTTGGGG	0.507000													20	98					1.22574e-08	1.5927e-08	0.002299	1	0
FLG	2312	broad.mit.edu	37	1	152287816	152287816	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:152287816C>G	ENST00000368799.1	-	2	152	c.117G>C	c.(115-117)aaG>aaC	p.K39N	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	39	EF-hand 1.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.K39N(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCCGAAATTCCTTTTCCAGAA	0.328000									Ichthyosis				28	144					0	0	0.003755	0	0
ZNF565	147929	broad.mit.edu	37	19	36673763	36673763	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr19:36673763C>A	ENST00000355114.5	-	5	1951	c.1225G>T	c.(1225-1227)Ggg>Tgg	p.G409W	ZNF565_ENST00000304116.5_Missense_Mutation_p.G369W|ZNF565_ENST00000392173.2_Missense_Mutation_p.G369W			Q8N9K5	ZN565_HUMAN	zinc finger protein 565	369					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(4)|lung(4)|ovary(1)|skin(2)	11	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.206)			AAGGCCTTCCCACATTCCTTA	0.488000													20	48					5.26018e-13	7.76326e-13	0.001882	1	0
STXBP5	134957	broad.mit.edu	37	6	147684481	147684481	+	Silent	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr6:147684481G>A	ENST00000367481.3	+	22	2556	c.2448G>A	c.(2446-2448)ttG>ttA	p.L816L	STXBP5_ENST00000367480.3_Silent_p.L799L|STXBP5_ENST00000179882.6_Silent_p.L507L|STXBP5_ENST00000321680.6_Silent_p.L852L	NM_139244.4	NP_640337.3	Q5T5C0	STXB5_HUMAN	syntaxin binding protein 5 (tomosyn)	852					exocytosis|positive regulation of exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|nicotinic acetylcholine-gated receptor-channel complex|synaptic vesicle	syntaxin-1 binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	42		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)		GTACTATATTGAGGTTAAAAG	0.353000													7	24					0	0	0.003080	0	0
CFB	629	broad.mit.edu	37	6	31911286	31911286	+	Silent	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr6:31911286C>T	ENST00000556679.1	+	9	1145	c.1090C>T	c.(1090-1092)Ctg>Ttg	p.L364L	C2_ENST00000442278.2_Silent_p.L385L|CFB_ENST00000456570.1_Silent_p.L364L|C2_ENST00000452323.2_Silent_p.L303L|C2_ENST00000469372.1_Silent_p.L271L|C2_ENST00000299367.5_Silent_p.L517L|CFB_ENST00000477310.1_Silent_p.L288L			P00751	CFAB_HUMAN	complement factor B	537	VWFA.				complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						CGACCACTCCCTGTGGAGGGT	0.632000													31	108					0	0	0.007291	0	0
MTMR4	9110	broad.mit.edu	37	17	56572926	56572926	+	Silent	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr17:56572926C>A	ENST00000323456.5	-	16	2701	c.2577G>T	c.(2575-2577)ggG>ggT	p.G859G	MTMR4_ENST00000579925.1_Silent_p.G802G	NM_004687.4	NP_004678.3	Q9NYA4	MTMR4_HUMAN	myotubularin related protein 4	859						cytoplasm|membrane	metal ion binding|protein tyrosine phosphatase activity			breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TGTCTTCCTCCCCATGGGTCA	0.478000													13	63					0.000151284	0.000168005	0.001855	1	0
CDH13	1012	broad.mit.edu	37	16	83065760	83065760	+	Silent	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr16:83065760C>A	ENST00000566620.1	+	3	593	c.303C>A	c.(301-303)ccC>ccA	p.P101P	CDH13_ENST00000446376.2_Silent_p.P101P|CDH13_ENST00000428848.3_Silent_p.P101P|CDH13_ENST00000268613.10_Silent_p.P148P|CDH13_ENST00000569454.1_3'UTR|CDH13_ENST00000431540.3_Silent_p.P101P|CDH13_ENST00000565636.1_Silent_p.P101P	NM_001220488.1|NM_001220489.1|NM_001220490.1|NM_001257.4	NP_001207417.1|NP_001207418.1|NP_001207419.1|NP_001248.1	P55290	CAD13_HUMAN	cadherin 13	101					adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|Rac protein signal transduction|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|Rho protein signal transduction|sprouting angiogenesis	anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection	adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding			large_intestine(1)	1		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)		COAD - Colon adenocarcinoma(5;0.0268)		CACGGACCCCCCATGCGGAAG	0.517000													10	17					0.000442599	0.000484186	0.006214	1	0
NEB	4703	broad.mit.edu	37	2	152404226	152404226	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr2:152404226T>A	ENST00000427231.2	-	132	20386	c.20184A>T	c.(20182-20184)aaA>aaT	p.K6728N	NEB_ENST00000409198.1_Missense_Mutation_p.K5027N|NEB_ENST00000604864.1_Missense_Mutation_p.K6728N|NEB_ENST00000603639.1_Missense_Mutation_p.K6728N|NEB_ENST00000397345.3_Missense_Mutation_p.K6728N|NEB_ENST00000172853.10_Missense_Mutation_p.K5027N	NM_001164507.1	NP_001157979.1	P20929	NEBU_HUMAN	nebulin	5027					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TGTCTTTCAGTTTGTGGTACA	0.443000													13	19					0	0	0.002450	0	0
TAOK3	51347	broad.mit.edu	37	12	118639195	118639195	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr12:118639195C>T	ENST00000392533.3	-	12	1383	c.893G>A	c.(892-894)cGt>cAt	p.R298H	TAOK3_ENST00000419821.2_Missense_Mutation_p.R298H	NM_016281.3	NP_057365.3	Q9H2K8	TAOK3_HUMAN	TAO kinase 3	298					MAPKKK cascade|negative regulation of JNK cascade|positive regulation of JNK cascade|protein autophosphorylation	mitochondrion|plasma membrane	ATP binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			central_nervous_system(1)|lung(5)|skin(1)	7	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					ATCTAGCTCACGAACTGCATC	0.438000													15	79					0	0	0.003163	0	0
CPXCR1	53336	broad.mit.edu	37	X	88008425	88008425	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chrX:88008425C>A	ENST00000276127.4	+	3	269	c.10C>A	c.(10-12)Cct>Act	p.P4T	CPXCR1_ENST00000373111.1_Missense_Mutation_p.P4T	NM_033048.5	NP_149037.4	Q8N123	CPXCR_HUMAN	CPX chromosome region, candidate 1	4						intracellular	zinc ion binding			NS(1)|cervix(1)|kidney(1)|large_intestine(11)|liver(1)|lung(20)|ovary(3)|upper_aerodigestive_tract(2)	40						GATGAGTTATCCTACTAAAGA	0.353000													3	9					0.00909568	0.0094903	0.009096	1	0
CDC34	997	broad.mit.edu	37	19	537015	537015	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr19:537015C>T	ENST00000215574.4	+	4	583	c.365C>T	c.(364-366)aCc>aTc	p.T122I		NM_004359.1	NP_004350.1	P49427	UB2R1_HUMAN	cell division cycle 34	122					DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|negative regulation of cAMP-mediated signaling|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination	cytoplasm|nucleus	ATP binding|protein binding|ubiquitin-protein ligase activity			large_intestine(1)|lung(1)	2		all_cancers(10;1.94e-35)|all_epithelial(18;5.94e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCCCACAGGACCATTCTCCTG	0.647000													20	39					0	0	0.007413	0	0
DCAF8L2	347442	broad.mit.edu	37	X	27766229	27766229	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chrX:27766229G>T	ENST00000451261.2	+	5	1616	c.1217G>T	c.(1216-1218)gGc>gTc	p.G406V		NM_001136533.1	NP_001130005.1			DDB1 and CUL4 associated factor 8-like 2											central_nervous_system(1)|endometrium(9)|kidney(3)|lung(7)|pancreas(1)|skin(3)	24						GAAAACAATGGCGTGCTCAAG	0.438000													13	23					7.03913e-09	9.21177e-09	0.001368	1	0
MYH2	4620	broad.mit.edu	37	17	10433043	10433043	+	Silent	SNP	T	T	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr17:10433043T>C	ENST00000245503.5	-	24	3339	c.2955A>G	c.(2953-2955)acA>acG	p.T985T	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|MYH2_ENST00000397183.2_Silent_p.T985T|CTC-297N7.7_ENST00000399342.2_RNA|MYH2_ENST00000532183.1_Intron	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	985					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						CCATCTCTTCTGTGAGGTTTT	0.478000													23	120					0	0	0.002780	0	0
SLC6A5	9152	broad.mit.edu	37	11	20676304	20676304	+	Missense_Mutation	SNP	T	T	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr11:20676304T>G	ENST00000525748.1	+	16	2557	c.2284T>G	c.(2284-2286)Tta>Gta	p.L762V	SLC6A5_ENST00000528440.1_3'UTR	NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 5	762					synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	GGGCCCATTCTTAGCTCAACA	0.547000													10	125					0	0	0.000978	0	0
TEX11	56159	broad.mit.edu	37	X	69849524	69849524	+	Missense_Mutation	SNP	A	A	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chrX:69849524A>T	ENST00000395889.2	-	19	1745	c.1590T>A	c.(1588-1590)gaT>gaA	p.D530E	TEX11_ENST00000344304.3_Missense_Mutation_p.D530E|TEX11_ENST00000374320.2_Missense_Mutation_p.D205E|TEX11_ENST00000374333.2_Missense_Mutation_p.D515E	NM_001003811.1	NP_001003811.1	Q8IYF3	TEX11_HUMAN	testis expressed 11	530							protein binding			breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(13)|ovary(3)|prostate(3)|skin(3)	48	Renal(35;0.156)					CTGCAACTAGATCATTATCTT	0.328000													17	46					0	0	0.004007	0	0
APOBEC3G	60489	broad.mit.edu	37	22	39483021	39483021	+	Nonsense_Mutation	SNP	A	A	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr22:39483021A>T	ENST00000407997.3	+	7	1387	c.1030A>T	c.(1030-1032)Aag>Tag	p.K344*	APOBEC3G_ENST00000452957.2_Nonsense_Mutation_p.K344*	NM_021822.3	NP_068594.1			apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3G											central_nervous_system(1)|large_intestine(4)|lung(5)|skin(1)|stomach(1)	12	Melanoma(58;0.04)					TTCAGAATTTAAGCACTGCTG	0.572000													17	44					0	0	0.004990	0	0
MAGEB3	4114	broad.mit.edu	37	X	30254298	30254298	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chrX:30254298C>A	ENST00000361644.2	+	5	994	c.257C>A	c.(256-258)gCc>gAc	p.A86D	MAGEB3_ENST00000378986.1_Missense_Mutation_p.A86D	NM_002365.4	NP_002356.2	O15480	MAGB3_HUMAN	melanoma antigen family B, 3	86										NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	25						TACAAGGGAGCCAACAGCAAA	0.448000													9	14					0.00448238	0.0047375	0.004482	1	0
COL11A2	1302	broad.mit.edu	37	6	33139529	33139529	+	Silent	SNP	C	C	A	rs146093235	byFrequency	TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr6:33139529C>A	ENST00000341947.2	-	42	3338	c.3111G>T	c.(3109-3111)ccG>ccT	p.P1037P	COL11A2_ENST00000357486.1_Silent_p.P1016P|COL11A2_ENST00000374714.1_Silent_p.P1011P|COL11A2_ENST00000395197.1_Silent_p.P977P|COL11A2_ENST00000361917.1_Silent_p.P930P|COL11A2_ENST00000374712.1_Silent_p.P956P|COL11A2_ENST00000374708.4_Silent_p.P951P|COL11A2_ENST00000477772.1_Intron|COL11A2_ENST00000374713.1_Silent_p.P990P	NM_080680.2	NP_542411.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	1037	Triple-helical region.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						GGGGACCCTGCGGGCCTGGGC	0.657000													27	15					8.88839e-20	1.53403e-19	0.002096	1	0
TSHZ3	57616	broad.mit.edu	37	19	31769005	31769005	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr19:31769005C>G	ENST00000240587.4	-	2	2021	c.1694G>C	c.(1693-1695)gGc>gCc	p.G565A		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	565					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					CCCCGACGAGCCCAGGGACAA	0.587000													35	57					0	0	0.003271	0	0
WNT10B	7480	broad.mit.edu	37	12	49361936	49361936	+	Silent	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr12:49361936G>T	ENST00000301061.4	-	4	852	c.504C>A	c.(502-504)tcC>tcA	p.S168S	WNT10B_ENST00000403957.1_Intron|WNT10B_ENST00000407467.1_Silent_p.S168S	NM_003394.3	NP_003385.2	O00744	WN10B_HUMAN	wingless-type MMTV integration site family, member 10B	168					axis specification|bone trabecula formation|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|chondrocyte differentiation|female gonad development|hemopoietic stem cell proliferation|midbrain-hindbrain boundary development|myoblast cell differentiation involved in skeletal muscle regeneration|negative regulation of epithelial cell proliferation|negative regulation of fat cell differentiation|neuron differentiation|positive regulation of anagen|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cell proliferation|positive regulation of epithelial cell differentiation|positive regulation of osteoblast differentiation|protein stabilization|regulation of skeletal muscle tissue development|skeletal muscle fiber development|smoothened signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity			central_nervous_system(1)|large_intestine(5)|lung(12)|prostate(1)|skin(4)	23						TCTTGCCTCGGGACAGTGCCT	0.657000													17	30					2.35188e-11	3.31751e-11	0.006122	1	0
ZNF275	10838	broad.mit.edu	37	X	152612745	152612745	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chrX:152612745G>T	ENST00000421401.3	+	4	779	c.602G>T	c.(601-603)aGg>aTg	p.R201M	ZNF275_ENST00000370249.2_Missense_Mutation_p.R148M|ZNF275_ENST00000440091.1_Missense_Mutation_p.R231M|ZNF275_ENST00000370251.2_Missense_Mutation_p.R201M	NM_001080485.3	NP_001073954.3	A6NFS0	A6NFS0_HUMAN	zinc finger protein 275	201						intracellular	nucleic acid binding|zinc ion binding			endometrium(5)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	16	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CAGCATCTGAGGGTCCACAGC	0.547000													41	52					2.13384e-23	3.8694e-23	0.003610	1	0
C1orf168	199920	broad.mit.edu	37	1	57254653	57254653	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:57254653C>A	ENST00000343433.6	-	3	992	c.912G>T	c.(910-912)caG>caT	p.Q304H	C1orf168_ENST00000484327.1_5'UTR	NM_001004303.4	NP_001004303.3	Q5VWT5	CA168_HUMAN	chromosome 1 open reading frame 168	304										NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2)	46						TACCTTCCCCCTGAGTCTTGG	0.597000													27	72					6.07407e-21	1.0646e-20	0.007291	1	0
GLP1R	2740	broad.mit.edu	37	6	39046924	39046924	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr6:39046924G>C	ENST00000373256.4	+	10	1034	c.991G>C	c.(991-993)Gtg>Ctg	p.V331L		NM_002062.3	NP_002053.3	P43220	GLP1R_HUMAN	glucagon-like peptide 1 receptor	331					activation of adenylate cyclase activity|cAMP-mediated signaling|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	glucagon receptor activity|peptide receptor activity, G-protein coupled			breast(5)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	31					Exenatide(DB01276)|Glucagon recombinant(DB00040)	CATCTGCATCGTGGTATCCAA	0.562000													18	141					0	0	0.007413	0	0
NUDCD2	134492	broad.mit.edu	37	5	162886923	162886923	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr5:162886923C>G	ENST00000302764.4	-	1	223	c.134G>C	c.(133-135)tGc>tCc	p.C45S	NUDCD2_ENST00000517501.1_Missense_Mutation_p.C45S	NM_145266.4	NP_660309.1	Q8WVJ2	NUDC2_HUMAN	NudC domain containing 2	45	CS.					intracellular				large_intestine(1)|prostate(1)	2	Renal(175;0.000281)	Medulloblastoma(196;0.0207)|all_neural(177;0.0966)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0981)|OV - Ovarian serous cystadenocarcinoma(192;0.183)|Epithelial(171;0.247)		CTGGAGGCCGCACTGGATATC	0.657000													10	55					0	0	0.008291	0	0
EHHADH	1962	broad.mit.edu	37	3	184910516	184910516	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr3:184910516C>A	ENST00000231887.3	-	7	1745	c.1670G>T	c.(1669-1671)aGg>aTg	p.R557M	EHHADH_ENST00000456310.1_Missense_Mutation_p.R461M	NM_001166415.1|NM_001966.3	NP_001159887.1|NP_001957.2	Q08426	ECHP_HUMAN	enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase	557	3-hydroxyacyl-CoA dehydrogenase.					peroxisome	3-hydroxyacyl-CoA dehydrogenase activity|coenzyme binding|dodecenoyl-CoA delta-isomerase activity|enoyl-CoA hydratase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(2)|skin(3)	24	all_cancers(143;4.04e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.98e-32)|OV - Ovarian serous cystadenocarcinoma(80;5.55e-21)		NADH(DB00157)	TGGGCAGTACCTCCTATTACC	0.488000													62	35					2.66076e-39	5.16998e-39	0.003610	1	0
ZFHX4	79776	broad.mit.edu	37	8	77775757	77775757	+	Silent	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr8:77775757G>T	ENST00000521891.2	+	11	10255	c.9807G>T	c.(9805-9807)ggG>ggT	p.G3269G	ZFHX4_ENST00000455469.2_Silent_p.G3224G|ZFHX4_ENST00000518282.1_Silent_p.G3243G|ZFHX4_ENST00000050961.6_Silent_p.G3220G	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	3220						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TTATCCCTGGGTTTGCTTCTT	0.493000										HNSCC(33;0.089)			20	80					1.55795e-14	2.4058e-14	0.001882	1	0
MYPOP	339344	broad.mit.edu	37	19	46404961	46404961	+	Missense_Mutation	SNP	T	T	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr19:46404961T>G	ENST00000322217.5	-	2	157	c.71A>C	c.(70-72)gAg>gCg	p.E24A		NM_001012643.2	NP_001012661.1	Q86VE0	MYPOP_HUMAN	Myb-related transcription factor, partner of profilin	24	Myb-like.					nucleus	DNA binding			large_intestine(2)|lung(1)|skin(1)	4						GATCTGGTTCTCTTCGAATGA	0.726000													10	3					0	0	0.008291	0	0
CTSG	1511	broad.mit.edu	37	14	25042850	25042850	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr14:25042850G>C	ENST00000216336.2	-	5	797	c.761C>G	c.(760-762)cCc>cGc	p.P254R		NM_001911.2	NP_001902.1	P08311	CATG_HUMAN	cathepsin G	254					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)		CAGTCACAGGGGGGTCTCCAT	0.493000													124	122					0	0	0.003610	0	0
OR14C36	127066	broad.mit.edu	37	1	248512455	248512455	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:248512455C>A	ENST00000317861.1	+	1	379	c.379C>A	c.(379-381)Cca>Aca	p.P127T		NM_001001918.1	NP_001001918.1	Q8NHC7	O14CZ_HUMAN	olfactory receptor, family 14, subfamily C, member 36	127					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(2)|lung(20)|ovary(2)|prostate(3)|skin(7)|upper_aerodigestive_tract(2)	43						TGTCTGCCAGCCACTTCACTA	0.507000													18	19					2.35188e-11	3.31751e-11	0.006122	1	0
ZEB2	9839	broad.mit.edu	37	2	145157509	145157509	+	Missense_Mutation	SNP	A	A	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr2:145157509A>T	ENST00000558170.2	-	8	2429	c.1245T>A	c.(1243-1245)ttT>ttA	p.F415L	ZEB2_ENST00000409487.3_Missense_Mutation_p.F415L|ZEB2_ENST00000303660.4_Missense_Mutation_p.F415L|ZEB2_ENST00000539609.3_Missense_Mutation_p.F391L	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	415						cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		CACCATTCATAAAGGGACTAG	0.453000													9	43					0	0	0.006214	0	0
MYH15	22989	broad.mit.edu	37	3	108195258	108195258	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr3:108195258G>T	ENST00000273353.3	-	13	1335	c.1279C>A	c.(1279-1281)Caa>Aaa	p.Q427K		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	427	Myosin head-like.					myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						TCTATAGTTTGACCTCTGGTA	0.338000													17	15					7.07596e-05	7.94826e-05	0.006122	1	0
PKP4	8502	broad.mit.edu	37	2	159519545	159519545	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr2:159519545C>T	ENST00000389757.3	+	14	2473	c.2348C>T	c.(2347-2349)cCa>cTa	p.P783L	AC005042.4_ENST00000342892.4_RNA|PKP4_ENST00000389759.3_Missense_Mutation_p.P783L|PKP4_ENST00000495123.1_3'UTR	NM_001005476.1	NP_001005476.1	Q99569	PKP4_HUMAN	plakophilin 4	783					cell adhesion	desmosome	protein binding			breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	61						GACTCTGAGCCAAGTTGCTGG	0.448000										HNSCC(62;0.18)			27	34					0	0	0.002445	0	0
TMEM255A	55026	broad.mit.edu	37	X	119438318	119438318	+	Silent	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chrX:119438318G>T	ENST00000371369.4	-	2	313	c.87C>A	c.(85-87)tcC>tcA	p.S29S	TMEM255A_ENST00000440464.1_Silent_p.S29S|TMEM255A_ENST00000309720.5_Silent_p.S29S	NM_001104544.1	NP_001098014.1			transmembrane protein 255A																		TGACATAGATGGAGTTTCGTT	0.428000													26	58					1.17739e-12	1.71693e-12	0.005443	1	0
DCAF12L1	139170	broad.mit.edu	37	X	125685683	125685683	+	Silent	SNP	C	C	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chrX:125685683C>G	ENST00000371126.1	-	1	1151	c.909G>C	c.(907-909)ctG>ctC	p.L303L		NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	303								p.L303L(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						GGAAGTAGGGCAGCCTGATGG	0.597000													14	54					0	0	0.002450	0	0
CD244	51744	broad.mit.edu	37	1	160811650	160811650	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:160811650C>A	ENST00000368034.4	-	2	280	c.103G>T	c.(103-105)Gtg>Ttg	p.V35L	CD244_ENST00000368033.3_Missense_Mutation_p.V35L|CD244_ENST00000322302.7_Missense_Mutation_p.V35L|CD244_ENST00000368032.2_Missense_Mutation_p.V35L	NM_001166663.1|NM_001166664.1|NM_016382.3	NP_001160135.1|NP_001160136.1|NP_057466.1	Q9BZW8	CD244_HUMAN	CD244 molecule, natural killer cell receptor 2B4	35	Ig-like 1.				blood coagulation|leukocyte migration	integral to membrane|plasma membrane	protein binding|receptor activity			central_nervous_system(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1)	18	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			TGAAGAGGCACTCCCGAGATG	0.483000													21	26					1.55469e-16	2.51182e-16	0.003330	1	0
TMPRSS11F	389208	broad.mit.edu	37	4	68919700	68919700	+	Missense_Mutation	SNP	A	A	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr4:68919700A>C	ENST00000356291.2	-	10	1303	c.1244T>G	c.(1243-1245)cTt>cGt	p.L415R	RP11-453E17.1_ENST00000500538.2_RNA	NM_207407.2	NP_997290.2	Q6ZWK6	TM11F_HUMAN	transmembrane protease, serine 11F	415	Peptidase S1.				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(4)	39						TTTTTTGGGAAGTGCACATGA	0.403000													13	70					0	0	0.002450	0	0
F2	2147	broad.mit.edu	37	11	46750227	46750227	+	Missense_Mutation	SNP	A	A	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr11:46750227A>T	ENST00000311907.5	+	11	1368	c.1312A>T	c.(1312-1314)Att>Ttt	p.I438F	F2_ENST00000530231.1_Missense_Mutation_p.I438F	NM_000506.3	NP_000497.1	P00734	THRB_HUMAN	coagulation factor II (thrombin)	438	Peptidase S1.				activation of caspase activity|acute-phase response|blood coagulation, intrinsic pathway|cell surface receptor linked signaling pathway|cytosolic calcium ion homeostasis|fibrinolysis|leukocyte migration|negative regulation of astrocyte differentiation|negative regulation of fibrinolysis|negative regulation of platelet activation|negative regulation of proteolysis|peptidyl-glutamic acid carboxylation|platelet activation|positive regulation of collagen biosynthetic process|positive regulation of protein phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of release of sequestered calcium ion into cytosol|post-translational protein modification|proteolysis|STAT protein import into nucleus|tyrosine phosphorylation of STAT protein	cytosol|endoplasmic reticulum lumen|extracellular space|Golgi lumen|plasma membrane|soluble fraction	calcium ion binding|growth factor activity|serine-type endopeptidase activity|thrombospondin receptor activity			endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	27		all_lung(304;0.000414)|Lung NSC(402;0.0011)		BRCA - Breast invasive adenocarcinoma(625;0.146)	Antihemophilic Factor(DB00025)|Argatroban(DB00278)|Bivalirudin(DB00006)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)|Enoxaparin(DB01225)|Heparin(DB01109)|Lepirudin(DB00001)|Menadione(DB00170)|Proflavine(DB01123)|Simvastatin(DB00641)|Suramin(DB04786)|Warfarin(DB00682)|Ximelagatran(DB04898)	CGAGCGAAACATTGAAAAGAT	0.532000													15	47					0	0	0.004007	0	0
CCNB3	85417	broad.mit.edu	37	X	50051956	50051956	+	Missense_Mutation	SNP	A	A	T	rs142543110		TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chrX:50051956A>T	ENST00000376042.1	+	6	1085	c.787A>T	c.(787-789)Atg>Ttg	p.M263L	CCNB3_ENST00000376038.1_Intron|CCNB3_ENST00000348603.2_Intron|CCNB3_ENST00000276014.7_Missense_Mutation_p.M263L			Q8WWL7	CCNB3_HUMAN	cyclin B3	263					cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	nucleus	protein kinase binding			breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					TTCCTTCTTTATGGAGTCAAT	0.413000													27	75					0	0	0.003954	0	0
PLEKHG4B	153478	broad.mit.edu	37	5	156309	156309	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr5:156309G>C	ENST00000283426.6	+	8	1314	c.1264G>C	c.(1264-1266)Ggc>Cgc	p.G422R		NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4B	422					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		AGAAGAGCTTGGCACAGAAGA	0.637000													16	30					0	0	0.003163	0	0
ZNF99	7652	broad.mit.edu	37	19	22939922	22939922	+	Silent	SNP	T	T	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr19:22939922T>C	ENST00000397104.3	-	6	2408	c.2409A>G	c.(2407-2409)aaA>aaG	p.K803K						zinc finger protein 99											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				ATTCTCCACATTTGTAGGGCT	0.388000													4	58					0	0	0.009096	0	0
OR8B12	219858	broad.mit.edu	37	11	124412749	124412749	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr11:124412749C>G	ENST00000306842.2	-	1	826	c.802G>C	c.(802-804)Gag>Cag	p.E268Q		NM_001005195.1	NP_001005195.1	Q8NGG6	OR8BC_HUMAN	olfactory receptor, family 8, subfamily B, member 12	268					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0213)		TTCCCTTGCTCGAGGGGCAGG	0.438000													17	46					0	0	0.004007	0	0
C1orf112	55732	broad.mit.edu	37	1	169812836	169812836	+	Nonsense_Mutation	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:169812836C>T	ENST00000286031.6	+	19	2570	c.1870C>T	c.(1870-1872)Caa>Taa	p.Q624*	C1orf112_ENST00000498289.1_3'UTR|C1orf112_ENST00000359326.4_Nonsense_Mutation_p.Q624*	NM_018186.2	NP_060656.2	Q9NSG2	CA112_HUMAN	chromosome 1 open reading frame 112	624										breast(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|stomach(1)	34	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					ACCTTATGTTCAACAGACATT	0.308000													6	42					0	0	0.003080	0	0
NDRG2	57447	broad.mit.edu	37	14	21490242	21490242	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr14:21490242C>A	ENST00000556147.1	-	5	1263	c.323G>T	c.(322-324)gGa>gTa	p.G108V	NDRG2_ENST00000397851.2_Missense_Mutation_p.G108V|NDRG2_ENST00000397853.3_Missense_Mutation_p.G108V|NDRG2_ENST00000397855.3_Missense_Mutation_p.G94V|NDRG2_ENST00000397847.2_Missense_Mutation_p.G108V|NDRG2_ENST00000403829.3_Missense_Mutation_p.G104V|NDRG2_ENST00000298684.5_Missense_Mutation_p.G94V|NDRG2_ENST00000360463.3_Missense_Mutation_p.G94V|NDRG2_ENST00000554104.1_Missense_Mutation_p.G21V|NDRG2_ENST00000554143.1_Missense_Mutation_p.G94V|NDRG2_ENST00000298687.5_Missense_Mutation_p.G108V|NDRG2_ENST00000397856.3_Missense_Mutation_p.G94V|NDRG2_ENST00000553503.1_Missense_Mutation_p.G94V|NDRG2_ENST00000350792.3_Missense_Mutation_p.G94V|NDRG2_ENST00000555158.1_Missense_Mutation_p.G94V|NDRG2_ENST00000397858.1_Missense_Mutation_p.G108V|NDRG2_ENST00000397844.2_Missense_Mutation_p.G94V			Q9UN36	NDRG2_HUMAN	NDRG family member 2	108					cell differentiation|nervous system development	centrosome|cytosol|Golgi apparatus|nucleus|perinuclear region of cytoplasm				breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	23	all_cancers(95;0.00185)		OV - Ovarian serous cystadenocarcinoma(11;6.85e-11)|Epithelial(56;9.49e-09)|all cancers(55;3.84e-08)	GBM - Glioblastoma multiforme(265;0.0191)		CACAGGGGCTCCCTCTTCCAT	0.522000													12	50					2.27111e-07	2.79507e-07	0.001368	1	0
LEMD2	221496	broad.mit.edu	37	6	33744940	33744940	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr6:33744940C>A	ENST00000293760.5	-	7	1252	c.1233G>T	c.(1231-1233)atG>atT	p.M411I	LEMD2_ENST00000502643.1_5'UTR|LEMD2_ENST00000508327.1_Missense_Mutation_p.M109I	NM_181336.3	NP_851853.1	Q8NC56	LEMD2_HUMAN	LEM domain containing 2	411						integral to nuclear inner membrane				central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(2)|pancreas(1)	9						CCATCTCATACATGGCTTGTT	0.498000													114	180					1.08021e-59	2.12137e-59	0.003610	1	0
BAI3	577	broad.mit.edu	37	6	70071032	70071032	+	Silent	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr6:70071032G>A	ENST00000370598.1	+	29	4688	c.3867G>A	c.(3865-3867)ttG>ttA	p.L1289L	BAI3_ENST00000546190.1_Silent_p.L253L|BAI3_ENST00000238918.8_Silent_p.L495L	NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	1289					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				ATGATAATTTGAGAGGGGCTG	0.393000													20	33					0	0	0.010504	0	0
POU6F1	5463	broad.mit.edu	37	12	51584375	51584375	+	Splice_Site	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr12:51584375C>A	ENST00000389243.4	-	11	1500	c.560_splice	c.e11-1	p.R187_splice	POU6F1_ENST00000333640.10_Splice_Site_p.R187_splice|POU6F1_ENST00000550824.1_Splice_Site_p.R187_splice			Q14863	PO6F1_HUMAN	POU class 6 homeobox 1	187	POU-specific.				brain development|heart development|muscle organ development	nucleus	sequence-specific DNA binding transcription factor activity			breast(2)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)	11						GCTTCTCGAACCTGTGGGCAA	0.582000													56	64					1.0442e-30	1.97912e-30	0.003610	1	0
CTNNA2	1496	broad.mit.edu	37	2	80085192	80085192	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr2:80085192G>T	ENST00000466387.1	+	8	1076	c.352G>T	c.(352-354)Gta>Tta	p.V118L	CTNNA2_ENST00000541047.1_Missense_Mutation_p.V118L|CTNNA2_ENST00000361291.4_Missense_Mutation_p.V152L|CTNNA2_ENST00000496558.1_Missense_Mutation_p.V118L|CTNNA2_ENST00000402739.4_Missense_Mutation_p.V118L|CTNNA2_ENST00000540488.1_Missense_Mutation_p.V118L			P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	118					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						TTGCTCGTCGGTAAAGCGCGG	0.577000													8	90					1.06961e-07	1.34343e-07	0.003080	1	0
ARNT	405	broad.mit.edu	37	1	150789613	150789613	+	Silent	SNP	T	T	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:150789613T>C	ENST00000358595.5	-	17	1844	c.1644A>G	c.(1642-1644)ttA>ttG	p.L548L	ARNT_ENST00000354396.2_Silent_p.L548L|ARNT_ENST00000515192.1_Silent_p.L534L|ARNT_ENST00000505755.1_Silent_p.L533L	NM_001197325.1|NM_001668.3|NM_178427.2	NP_001184254.1|NP_001659.1|NP_848514.1	P27540	ARNT_HUMAN	aryl hydrocarbon receptor nuclear translocator	548					positive regulation of hormone biosynthetic process|positive regulation vascular endothelial growth factor production|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|response to hypoxia		aryl hydrocarbon receptor binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|prostate(2)|skin(4)|stomach(1)	34	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.02)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211)			CCTGGGCAAATAAACCATCTG	0.383000			T	ETV6	AML								14	42					0	0	0.004007	0	0
NEK10	152110	broad.mit.edu	37	3	27213309	27213309	+	Splice_Site	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr3:27213309C>A	ENST00000429845.2	-	30	3194		c.e30+1		NEK10_ENST00000357467.2_Splice_Site|NEK10_ENST00000295720.6_Splice_Site|NEK10_ENST00000498182.1_Splice_Site|NEK10_ENST00000383770.3_Splice_Site|NEK10_ENST00000383771.4_Splice_Site			Q6ZWH5	NEK10_HUMAN	NIMA-related kinase 10								ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						TTTGCACCTACCTTGTTTGGG	0.358000													18	13					1.64113e-05	1.88679e-05	0.010504	1	0
LRP12	29967	broad.mit.edu	37	8	105503727	105503727	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr8:105503727T>A	ENST00000276654.5	-	7	1862	c.1754A>T	c.(1753-1755)cAg>cTg	p.Q585L	LRP12_ENST00000518375.1_5'UTR|LRP12_ENST00000424843.2_Missense_Mutation_p.Q566L	NM_013437.4	NP_038465.1	Q9Y561	LRP12_HUMAN	low density lipoprotein receptor-related protein 12	585					endocytosis|regulation of growth	coated pit|integral to plasma membrane	low-density lipoprotein receptor activity|protein binding			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			AAATCCAAGCTGAGATCGTAC	0.368000													21	28					0	0	0.002780	0	0
IL9	3578	broad.mit.edu	37	5	135231498	135231498	+	Missense_Mutation	SNP	A	A	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr5:135231498A>T	ENST00000274520.1	-	1	18	c.8T>A	c.(7-9)cTg>cAg	p.L3Q		NM_000590.1	NP_000581.1	P15248	IL9_HUMAN	interleukin 9	3					immune response|inflammatory response|positive regulation of cell proliferation|positive regulation of interleukin-5 biosynthetic process	extracellular space	cytokine activity|cytokine receptor binding|growth factor activity			large_intestine(3)|lung(2)|pancreas(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GACCATGGCCAGAAGCATCTT	0.542000													13	5					0	0	0.004007	0	0
DDX28	55794	broad.mit.edu	37	16	68055794	68055794	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr16:68055794C>A	ENST00000332395.5	-	1	1976	c.1312G>T	c.(1312-1314)Gga>Tga	p.G438*		NM_018380.3	NP_060850.2	Q9NUL7	DDX28_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 28	438	Helicase C-terminal.					mitochondrial nucleoid|nucleus	ATP binding|ATP-dependent helicase activity|RNA binding			central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	13		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0116)|Epithelial(162;0.0474)|all cancers(182;0.233)		TGGAAGATTCCTACCCTCATC	0.517000													16	33					4.7546e-09	6.26122e-09	0.004007	1	0
DMD	1756	broad.mit.edu	37	X	31279119	31279119	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chrX:31279119G>T	ENST00000357033.4	-	63	9445	c.9239C>A	c.(9238-9240)aCa>aAa	p.T3080K	DMD_ENST00000359836.1_Missense_Mutation_p.T620K|DMD_ENST00000378723.3_Missense_Mutation_p.T12K|DMD_ENST00000474231.1_Missense_Mutation_p.T620K|DMD_ENST00000361471.4_Missense_Mutation_p.T12K|DMD_ENST00000378707.3_Missense_Mutation_p.T620K|DMD_ENST00000343523.2_Missense_Mutation_p.T620K|DMD_ENST00000378702.4_Missense_Mutation_p.T12K|DMD_ENST00000541735.1_Missense_Mutation_p.T620K|DMD_ENST00000378680.2_Missense_Mutation_p.T12K|DMD_ENST00000378677.2_Missense_Mutation_p.T3076K	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	3080	Interaction with SYNM (By similarity).|WW.				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				CCAGCAAGTTGTTTGAGTCTC	0.378000													7	21					0.000157383	0.000174513	0.003080	1	0
LRRC4B	94030	broad.mit.edu	37	19	51051798	51051798	+	Splice_Site	SNP	C	C	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr19:51051798C>G	ENST00000599957.1	-	2	495		c.e2+1		LRRC4B_ENST00000389201.3_Splice_Site			Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B							cell junction|integral to membrane|presynaptic membrane				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	30		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		GCCCCGCATACCTGGATGCCG	0.672000													2	2					0	0	0.004672	0	0
MXD4	10608	broad.mit.edu	37	4	2254172	2254172	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr4:2254172G>A	ENST00000337190.2	-	4	585	c.272C>T	c.(271-273)aCg>aTg	p.T91M		NM_006454.2	NP_006445.1	Q14582	MAD4_HUMAN	MAX dimerization protein 4	91	Helix-loop-helix motif.				negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|transcription corepressor activity			breast(1)|endometrium(1)|kidney(1)|lung(3)	6						GAGGCTCAGCGTGGTGTGGCG	0.637000													9	19					0	0	0.002450	0	0
ZBP1	81030	broad.mit.edu	37	20	56186853	56186853	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr20:56186853G>T	ENST00000340462.4	-	5	1015	c.735C>A	c.(733-735)caC>caA	p.H245Q	ZBP1_ENST00000343535.4_Missense_Mutation_p.H268Q|ZBP1_ENST00000371173.3_Missense_Mutation_p.H268Q|ZBP1_ENST00000395822.3_Missense_Mutation_p.H193Q			Q9H171	ZBP1_HUMAN	Z-DNA binding protein 1	268						cytoplasm|nucleus	double-stranded RNA adenosine deaminase activity|left-handed Z-DNA binding|RNA binding	p.H268H(1)		large_intestine(11)|lung(8)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	27	Lung NSC(12;0.000545)|all_lung(29;0.00195)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;7.87e-13)|Epithelial(14;3.26e-09)|all cancers(14;3.62e-08)			TCTCATTGCTGTGTCCCAGCT	0.632000													8	11					3.03607e-14	4.64918e-14	0.001368	1	0
CNTNAP5	129684	broad.mit.edu	37	2	125281979	125281979	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr2:125281979C>A	ENST00000431078.1	+	9	1788	c.1424C>A	c.(1423-1425)cCa>cAa	p.P475Q		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	475	Laminin G-like 2.				cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		CCCCCGGCTCCAGACAGCACT	0.483000													7	22					8.12818e-05	9.08845e-05	0.001984	1	0
AP2M1	1173	broad.mit.edu	37	3	183896904	183896904	+	Silent	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr3:183896904C>T	ENST00000382456.3	+	3	648	c.334C>T	c.(334-336)Ctg>Ttg	p.L112L	EIF2B5_ENST00000444495.1_Intron|AP2M1_ENST00000439647.1_Silent_p.L112L|AP2M1_ENST00000411763.2_Silent_p.L137L|AP2M1_ENST00000292807.5_Silent_p.L112L	NM_001025205.1	NP_001020376.1	Q96CW1	AP2M1_HUMAN	adaptor-related protein complex 2, mu 1 subunit	112					axon guidance|cellular membrane organization|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|vesicle-mediated transport|viral reproduction	clathrin adaptor complex|clathrin coat of coated pit|cytosol|endocytic vesicle membrane|peroxisomal membrane	lipid binding|protein binding|transporter activity			endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	18	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.92e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			ATATGAGCTGCTGGATGGTGA	0.547000													84	41					0	0	0.003610	0	0
ADAMTS13	11093	broad.mit.edu	37	9	136324098	136324098	+	Silent	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr9:136324098C>T	ENST00000371929.3	+	29	4524	c.4080C>T	c.(4078-4080)atC>atT	p.I1360I	ADAMTS13_ENST00000371916.1_3'UTR|ADAMTS13_ENST00000356589.2_Silent_p.I1273I|ADAMTS13_ENST00000485925.1_3'UTR|ADAMTS13_ENST00000355699.2_Silent_p.I1304I|ADAMTS13_ENST00000371910.1_Silent_p.I156I	NM_139025.3|NM_139027.3	NP_620594.1|NP_620596.2	Q76LX8	ATS13_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 13	1360	CUB 2.				cell-matrix adhesion|glycoprotein metabolic process|integrin-mediated signaling pathway|peptide catabolic process|platelet activation|protein processing|proteolysis	cell surface|proteinaceous extracellular matrix	calcium ion binding|integrin binding|metalloendopeptidase activity|zinc ion binding			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(4)	36				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		TCTCTCAGATCCGGGACACCC	0.572000													14	10					0	0	0.003163	0	0
CTAGE1	64693	broad.mit.edu	37	18	19996204	19996204	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr18:19996204C>T	ENST00000391403.2	-	1	1674	c.1571G>A	c.(1570-1572)gGa>gAa	p.G524E		NM_172241.2	NP_758441.2	Q96RT6	CTGE2_HUMAN	cutaneous T-cell lymphoma-associated antigen 1	524						integral to membrane				cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1)	27	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)					GCCTCTTCCTCCTCCCCGTGG	0.512000													15	83					0	0	0.007413	0	0
KCNB2	9312	broad.mit.edu	37	8	73849614	73849614	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr8:73849614C>A	ENST00000523207.1	+	3	2612	c.2024C>A	c.(2023-2025)aCt>aAt	p.T675N		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	675					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			GTTGACATAACTGTGAACCTC	0.547000													17	41					2.35188e-11	3.31751e-11	0.006122	1	0
STAG2	10735	broad.mit.edu	37	X	123202495	123202495	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chrX:123202495G>T	ENST00000371160.1	+	24	2637	c.2347G>T	c.(2347-2349)Gtt>Ttt	p.V783F	STAG2_ENST00000218089.9_Missense_Mutation_p.V783F|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000371145.3_Missense_Mutation_p.V783F|STAG2_ENST00000371144.3_Missense_Mutation_p.V783F|STAG2_ENST00000371157.3_Missense_Mutation_p.V783F|STAG2_ENST00000354548.5_Missense_Mutation_p.V714F			Q8N3U4	STAG2_HUMAN	stromal antigen 2	783					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						GAATACTACTGTTAAGGAACA	0.294000													14	34					0.00316338	0.00336525	0.003163	1	0
MYH6	4624	broad.mit.edu	37	14	23855649	23855649	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr14:23855649C>T	ENST00000405093.3	-	33	4904	c.4834G>A	c.(4834-4836)Gag>Aag	p.E1612K	MYH6_ENST00000356287.3_Missense_Mutation_p.E1612K	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	1612					adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		CTCAGGACCTCGTTGCGGCTG	0.607000													83	83					0	0	0.003610	0	0
ADAM15	8751	broad.mit.edu	37	1	155030771	155030771	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:155030771C>G	ENST00000356955.2	+	15	1872	c.1771C>G	c.(1771-1773)Ctg>Gtg	p.L591V	ADAM15_ENST00000360674.4_Missense_Mutation_p.L591V|ADAM15_ENST00000368410.2_Missense_Mutation_p.L297V|ADAM15_ENST00000368412.3_Missense_Mutation_p.L591V|ADAM15_ENST00000271836.6_Missense_Mutation_p.L591V|ADAM15_ENST00000449910.2_Missense_Mutation_p.L591V|ADAM15_ENST00000447332.3_Missense_Mutation_p.L575V|ADAM15_ENST00000359280.4_Missense_Mutation_p.L591V|ADAM15_ENST00000368413.1_Missense_Mutation_p.L297V|ADAM15_ENST00000531455.1_Missense_Mutation_p.L601V|ADAM15_ENST00000355956.2_Missense_Mutation_p.L591V|ADAM15_ENST00000472434.1_3'UTR	NM_207197.2	NP_997080.1	Q13444	ADA15_HUMAN	ADAM metallopeptidase domain 15	591	Cys-rich.				angiogenesis|cell-matrix adhesion|collagen catabolic process|proteolysis	acrosomal vesicle|adherens junction|endomembrane system|flagellum|integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(5)|urinary_tract(1)	39	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			GACCCAGCCTCTGCTGGGCTC	0.597000													5	48					0	0	0.001168	0	0
OR51I1	390063	broad.mit.edu	37	11	5461847	5461847	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr11:5461847C>A	ENST00000380211.1	-	1	897	c.898G>T	c.(898-900)Gag>Tag	p.E300*	HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA	NM_001005288.2	NP_001005288.1	Q9H343	O51I1_HUMAN	olfactory receptor, family 51, subfamily I, member 1	300					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.E300*(1)		central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TTGCGGATCTCCTTGGTTTTC	0.473000													25	52					1.04121e-07	1.30888e-07	0.005443	1	0
KMT2C	58508	broad.mit.edu	37	7	151874875	151874875	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr7:151874875C>G	ENST00000355193.2	-	38	7881	c.7663G>C	c.(7663-7665)Ggc>Cgc	p.G2555R	KMT2C_ENST00000262189.6_Missense_Mutation_p.G2555R					lysine (K)-specific methyltransferase 2C																		TATGCTTGGCCCAGTATGTTG	0.473000													21	41					0	0	0.008871	0	0
MME	4311	broad.mit.edu	37	3	154834294	154834294	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr3:154834294G>C	ENST00000460393.1	+	5	505	c.385G>C	c.(385-387)Gat>Cat	p.D129H	MME_ENST00000462745.1_Missense_Mutation_p.D129H|MME_ENST00000360490.2_Missense_Mutation_p.D129H|MME_ENST00000492661.1_Missense_Mutation_p.D129H|MME_ENST00000493237.1_Missense_Mutation_p.D129H	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	P08473	NEP_HUMAN	membrane metallo-endopeptidase	129					cell-cell signaling|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)	CAAAACTGAAGATATAGTAGC	0.308000													32	38					0	0	0.006999	0	0
ZFHX4	79776	broad.mit.edu	37	8	77776468	77776468	+	Silent	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr8:77776468G>A	ENST00000521891.2	+	11	10966	c.10518G>A	c.(10516-10518)caG>caA	p.Q3506Q	ZFHX4_ENST00000455469.2_Silent_p.Q3461Q|ZFHX4_ENST00000518282.1_Silent_p.Q3480Q|ZFHX4_ENST00000050961.6_Silent_p.Q3457Q	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	3457	Ser-rich.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CTACCTCGCAGTCTGCAGCTT	0.438000										HNSCC(33;0.089)			23	15					0	0	0.003954	0	0
KPRP	448834	broad.mit.edu	37	1	152733784	152733784	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:152733784G>A	ENST00000368773.1	+	2	1778	c.1720G>A	c.(1720-1722)Gca>Aca	p.A574T	KPRP_ENST00000606109.1_Missense_Mutation_p.A574T	NM_001025231.1	NP_001020402.1	Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	574						cytoplasm				NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GAAAGGGGAAGCAAAGAGTGC	0.502000													8	34					0	0	0.003080	0	0
FAT3	120114	broad.mit.edu	37	11	92532563	92532563	+	Silent	SNP	C	C	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr11:92532563C>G	ENST00000298047.6	+	9	6401	c.6384C>G	c.(6382-6384)ggC>ggG	p.G2128G	FAT3_ENST00000409404.2_Silent_p.G2128G|FAT3_ENST00000525166.1_Silent_p.G1978G			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2128	Cadherin 19.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				ATGACTATGGCCACTTTGAAA	0.438000										TCGA Ovarian(4;0.039)			3	8					0	0	0.004672	0	0
SERPINE3	647174	broad.mit.edu	37	13	51915467	51915467	+	Silent	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr13:51915467G>A	ENST00000524365.1	+	4	865	c.240G>A	c.(238-240)ctG>ctA	p.L80L	SERPINE3_ENST00000521255.1_Silent_p.L80L|SERPINE3_ENST00000400389.4_Silent_p.L80L			A8MV23	SERP3_HUMAN	serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 3	80					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			ovary(2)	2						CAGATGCCCTGGGGTACACTG	0.577000													3	2					0	0	0.004672	0	0
FAM19A2	338811	broad.mit.edu	37	12	62261137	62261137	+	Missense_Mutation	SNP	A	A	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr12:62261137A>T	ENST00000416284.3	-	2	1654	c.70T>A	c.(70-72)Tgg>Agg	p.W24R	FAM19A2_ENST00000551619.1_Missense_Mutation_p.W24R|FAM19A2_ENST00000551449.1_Missense_Mutation_p.W24R	NM_178539.4	NP_848634.1	Q8N3H0	F19A2_HUMAN	family with sequence similarity 19 (chemokine (C-C motif)-like), member A2	24						cytoplasm				endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)	15			GBM - Glioblastoma multiforme(1;0.00484)	GBM - Glioblastoma multiforme(3;0.02)		ACTTTCCCCCACAAGGTTACA	0.303000													47	75					0	0	0.003610	0	0
TNRC6C	57690	broad.mit.edu	37	17	76047273	76047273	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr17:76047273G>T	ENST00000335749.4	+	3	2699	c.2130G>T	c.(2128-2130)tgG>tgT	p.W710C	TNRC6C_ENST00000544502.1_Missense_Mutation_p.W710C|TNRC6C_ENST00000588847.1_Missense_Mutation_p.W710C|TNRC6C_ENST00000301624.4_Missense_Mutation_p.W710C|TNRC6C_ENST00000588061.1_Missense_Mutation_p.W710C|TNRC6C_ENST00000541771.1_Missense_Mutation_p.W710C	NM_001142640.1	NP_001136112.1	Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C	710	Sufficient for interaction with argonaute family proteins.				gene silencing by RNA|regulation of translation		nucleotide binding|RNA binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			CAACTGGCTGGGAAGAACCCT	0.522000													7	7					0.000274275	0.000301394	0.004482	1	0
PRAMEF2	65122	broad.mit.edu	37	1	12921424	12921424	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:12921424C>A	ENST00000240189.2	+	4	1302	c.1215C>A	c.(1213-1215)agC>agA	p.S405R		NM_023014.1	NP_075390.1	O60811	PRAM2_HUMAN	PRAME family member 2	405										breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GTGGGCTGAGCAAGTTAAGCC	0.552000													36	75					1.47244e-24	2.70686e-24	0.006230	1	0
NDRG2	57447	broad.mit.edu	37	14	21490241	21490241	+	Silent	SNP	T	T	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr14:21490241T>A	ENST00000556147.1	-	5	1264	c.324A>T	c.(322-324)ggA>ggT	p.G108G	NDRG2_ENST00000397851.2_Silent_p.G108G|NDRG2_ENST00000397853.3_Silent_p.G108G|NDRG2_ENST00000397855.3_Silent_p.G94G|NDRG2_ENST00000397847.2_Silent_p.G108G|NDRG2_ENST00000403829.3_Silent_p.G104G|NDRG2_ENST00000298684.5_Silent_p.G94G|NDRG2_ENST00000360463.3_Silent_p.G94G|NDRG2_ENST00000554104.1_Silent_p.G21G|NDRG2_ENST00000554143.1_Silent_p.G94G|NDRG2_ENST00000298687.5_Silent_p.G108G|NDRG2_ENST00000397856.3_Silent_p.G94G|NDRG2_ENST00000553503.1_Silent_p.G94G|NDRG2_ENST00000350792.3_Silent_p.G94G|NDRG2_ENST00000555158.1_Silent_p.G94G|NDRG2_ENST00000397858.1_Silent_p.G108G|NDRG2_ENST00000397844.2_Silent_p.G94G			Q9UN36	NDRG2_HUMAN	NDRG family member 2	108					cell differentiation|nervous system development	centrosome|cytosol|Golgi apparatus|nucleus|perinuclear region of cytoplasm				breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	23	all_cancers(95;0.00185)		OV - Ovarian serous cystadenocarcinoma(11;6.85e-11)|Epithelial(56;9.49e-09)|all cancers(55;3.84e-08)	GBM - Glioblastoma multiforme(265;0.0191)		ACACAGGGGCTCCCTCTTCCA	0.517000													12	51					0	0	0.001368	0	0
RP1	6101	broad.mit.edu	37	8	55539392	55539392	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr8:55539392G>C	ENST00000220676.1	+	4	3098	c.2950G>C	c.(2950-2952)Gat>Cat	p.D984H		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	984			D -> G (in RP1).		axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TTTGACAGGAGATAATCTATG	0.348000													7	226					0	0	0.001984	0	0
ZNF548	147694	broad.mit.edu	37	19	57909966	57909966	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr19:57909966G>T	ENST00000366197.5	+	3	561	c.311G>T	c.(310-312)gGa>gTa	p.G104V	ZNF548_ENST00000597400.1_3'UTR|AC003002.6_ENST00000596400.1_Intron|AC004076.7_ENST00000597410.1_Intron|ZNF548_ENST00000336128.7_Missense_Mutation_p.G116V|AC003002.6_ENST00000600421.1_Intron	NM_152909.3	NP_690873.2	Q8NEK5	ZN548_HUMAN	zinc finger protein 548	104					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GAGCACAATGGAATTCATCCT	0.468000													25	45					7.76418e-22	1.37727e-21	0.005443	1	0
MAP3K15	389840	broad.mit.edu	37	X	19392632	19392632	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chrX:19392632G>C	ENST00000338883.4	-	20	2735	c.2736C>G	c.(2734-2736)aaC>aaG	p.N912K	MAP3K15_ENST00000359173.3_Missense_Mutation_p.N347K|MAP3K15_ENST00000518578.1_5'UTR|MAP3K15_ENST00000469203.2_Missense_Mutation_p.N744K	NM_001001671.3	NP_001001671.3	Q6ZN16	M3K15_HUMAN	mitogen-activated protein kinase kinase kinase 15	912							ATP binding|MAP kinase kinase kinase activity|metal ion binding			NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	Hepatocellular(33;0.183)					TCTTGCCCTTGTTCACCTGCC	0.577000													15	47					0	0	0.003163	0	0
CHST6	4166	broad.mit.edu	37	16	75513075	75513075	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr16:75513075G>T	ENST00000332272.4	-	3	831	c.652C>A	c.(652-654)Ctg>Atg	p.L218M	RP11-77K12.4_ENST00000530512.3_RNA|CHST6_ENST00000390664.2_Missense_Mutation_p.L218M	NM_021615.4	NP_067628.1	Q9GZX3	CHST6_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6	218					keratan sulfate biosynthetic process|N-acetylglucosamine metabolic process	Golgi membrane|integral to membrane	N-acetylglucosamine 6-O-sulfotransferase activity			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						TCACGCGCCAGAGCCTTGGCT	0.721000													12	19					7.03913e-09	9.21177e-09	0.001368	1	0
ADAMTS14	140766	broad.mit.edu	37	10	72511358	72511358	+	Nonsense_Mutation	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr10:72511358G>A	ENST00000373208.1	+	17	2561	c.2561G>A	c.(2560-2562)tGg>tAg	p.W854*	ADAMTS14_ENST00000373207.1_Nonsense_Mutation_p.W851*	NM_139155.2	NP_631894.2	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 14	851	TSP type-1 2.				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						ACCTATGAGTGGGCGCTCAAG	0.622000													13	27					0	0	0.001855	0	0
MAS1L	116511	broad.mit.edu	37	6	29455569	29455569	+	Silent	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr6:29455569C>T	ENST00000377127.3	-	1	169	c.111G>A	c.(109-111)gaG>gaA	p.E37E		NM_052967.1	NP_443199.1	P35410	MAS1L_HUMAN	MAS1 oncogene-like	37						cytoplasm|integral to membrane|nucleus|plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(7)|pancreas(1)|prostate(2)|skin(2)	28						GGTTCTGTGCCTCCTGGTCAC	0.493000													7	67					0	0	0.001984	0	0
ZSCAN1	284312	broad.mit.edu	37	19	58563973	58563973	+	Missense_Mutation	SNP	C	C	A	rs144488549		TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr19:58563973C>A	ENST00000282326.1	+	5	828	c.581C>A	c.(580-582)gCg>gAg	p.A194E		NM_182572.3	NP_872378.3	Q8NBB4	ZSCA1_HUMAN	zinc finger and SCAN domain containing 1	194					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		GAGGCCGAAGCGCCCCGCGCC	0.602000													11	31					2.27111e-07	2.79507e-07	0.001368	1	0
ZNF675	171392	broad.mit.edu	37	19	23837472	23837472	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr19:23837472T>A	ENST00000359788.4	-	4	431	c.263A>T	c.(262-264)gAg>gTg	p.E88V	ZNF675_ENST00000601935.1_Intron|ZNF675_ENST00000600313.1_Intron|ZNF675_ENST00000596211.1_Intron	NM_138330.2	NP_612203.2	Q8TD23	ZN675_HUMAN	zinc finger protein 675	88					bone resorption|cytokine-mediated signaling pathway|hemopoiesis|I-kappaB kinase/NF-kappaB cascade|negative regulation of JNK cascade|negative regulation of osteoclast differentiation|negative regulation of protein kinase activity|negative regulation of transcription, DNA-dependent|regulation of ossification|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				TATGTTCTGCTCTGGCCAAAA	0.308000													10	23					0	0	0.008291	0	0
OR9Q2	219957	broad.mit.edu	37	11	57958678	57958678	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr11:57958678C>A	ENST00000311591.3	+	1	773	c.716C>A	c.(715-717)tCc>tAc	p.S239Y		NM_001005283.2	NP_001005283.1	Q8NGE9	OR9Q2_HUMAN	olfactory receptor, family 9, subfamily Q, member 2	239					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(2)|endometrium(1)|large_intestine(3)|lung(24)|ovary(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41		Breast(21;0.0589)				AAGACCTTCTCCACCTGCGCC	0.567000													21	37					5.26018e-13	7.76326e-13	0.001882	1	0
LRRTM3	347731	broad.mit.edu	37	10	68686853	68686853	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr10:68686853C>G	ENST00000361320.4	+	2	757	c.179C>G	c.(178-180)tCt>tGt	p.S60C	CTNNA3_ENST00000373744.4_Intron|CTNNA3_ENST00000433211.1_Intron|CTNNA3_ENST00000494580.1_Intron	NM_178011.3	NP_821079.3	Q86VH5	LRRT3_HUMAN	leucine rich repeat transmembrane neuronal 3	60	LRRNT.					integral to membrane				breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	41						TCAAGTATATCTGCTGGTTGC	0.428000													18	43					0	0	0.007413	0	0
IGHV3-33	28434	broad.mit.edu	37	14	106815935	106815935	+	RNA	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr14:106815935G>A	ENST00000390615.2	-	0	217																											TACTGAAGGTGAATCCAGACG	0.567000													27	96					0	0	0.005443	0	0
SNX8	29886	broad.mit.edu	37	7	2297015	2297015	+	Silent	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr7:2297015C>T	ENST00000222990.3	-	9	1161	c.1119G>A	c.(1117-1119)gaG>gaA	p.E373E		NM_013321.2	NP_037453.1	Q9Y5X2	SNX8_HUMAN	sorting nexin 8	373					cell communication|early endosome to Golgi transport|intracellular protein transport	early endosome membrane	phosphatidylinositol binding|protein binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(2)|skin(3)	26		Ovarian(82;0.11)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0853)|OV - Ovarian serous cystadenocarcinoma(56;3.79e-14)		CAATGCGGGACTCCAGCTGCT	0.697000													4	8					0	0	0.009096	0	0
ZNF548	147694	broad.mit.edu	37	19	57909965	57909965	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr19:57909965G>T	ENST00000366197.5	+	3	560	c.310G>T	c.(310-312)Gga>Tga	p.G104*	ZNF548_ENST00000597400.1_3'UTR|AC003002.6_ENST00000596400.1_Intron|AC004076.7_ENST00000597410.1_Intron|ZNF548_ENST00000336128.7_Nonsense_Mutation_p.G116*|AC003002.6_ENST00000600421.1_Intron	NM_152909.3	NP_690873.2	Q8NEK5	ZN548_HUMAN	zinc finger protein 548	104					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TGAGCACAATGGAATTCATCC	0.473000													24	45					2.27525e-19	3.8993e-19	0.003954	1	0
KLHL34	257240	broad.mit.edu	37	X	21675499	21675499	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chrX:21675499G>C	ENST00000379499.2	-	1	949	c.408C>G	c.(406-408)aaC>aaG	p.N136K		NM_153270.1	NP_695002.1	Q8N239	KLH34_HUMAN	kelch-like family member 34	136	BACK.									cervix(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	26						GCGCTGCCACGTTGGCGGCGA	0.716000													2	2					0	0	0.004672	0	0
ERN2	10595	broad.mit.edu	37	16	23718359	23718359	+	Silent	SNP	G	G	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr16:23718359G>C	ENST00000256797.4	-	5	660	c.492C>G	c.(490-492)ccC>ccG	p.P164P	ERN2_ENST00000457008.2_Silent_p.P116P	NM_033266.3	NP_150296.3	Q76MJ5	ERN2_HUMAN	endoplasmic reticulum to nucleus signaling 2	116					apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity			large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)		AGCTGCGGCAGGGAGAGGCAT	0.547000													10	46					0	0	0.008291	0	0
KSR1	8844	broad.mit.edu	37	17	25909746	25909746	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr17:25909746G>T	ENST00000398988.3	+	5	629	c.184G>T	c.(184-186)Gac>Tac	p.D62Y	KSR1_ENST00000509603.2_Missense_Mutation_p.D199Y|KSR1_ENST00000319524.6_Missense_Mutation_p.D199Y|KSR1_ENST00000268763.6_Missense_Mutation_p.D62Y	NM_014238.1	NP_055053.1	Q8IVT5	KSR1_HUMAN	kinase suppressor of ras 1	197					Ras protein signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	28	Lung NSC(42;0.00836)		BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		GCCTTCCACGGACACCCTCTC	0.662000													18	41					2.37509e-13	3.55537e-13	0.010504	1	0
ITM2A	9452	broad.mit.edu	37	X	78622626	78622626	+	Silent	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chrX:78622626G>A	ENST00000434584.2	-	1	423	c.87C>T	c.(85-87)gtC>gtT	p.V29V	ITM2A_ENST00000373298.2_Silent_p.V29V	NM_001171581.1	NP_001165052.1	O43736	ITM2A_HUMAN	integral membrane protein 2A	29						integral to membrane	protein binding			breast(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	18						TCTGAGTTCTGACCGTGCGGC	0.582000													3	9					0	0	0.004672	0	0
PPP2R3C	55012	broad.mit.edu	37	14	35585916	35585916	+	Missense_Mutation	SNP	T	T	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr14:35585916T>G	ENST00000261475.5	-	2	439	c.86A>C	c.(85-87)gAt>gCt	p.D29A	PPP2R3C_ENST00000555644.1_Missense_Mutation_p.D29A	NM_017917.2	NP_060387.2	Q969Q6	P2R3C_HUMAN	protein phosphatase 2, regulatory subunit B'', gamma	29						centrosome|nucleus	calcium ion binding			central_nervous_system(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)	15	Breast(36;0.0545)|Hepatocellular(127;0.158)|Prostate(35;0.184)		Lung(238;8.62e-06)|LUAD - Lung adenocarcinoma(48;1.42e-05)|Epithelial(34;0.0177)|all cancers(34;0.0491)	GBM - Glioblastoma multiforme(112;0.0803)		CATTTCTTCATCTTTTAATTC	0.303000													6	41					0	0	0.001984	0	0
TRIM51	84767	broad.mit.edu	37	11	55653694	55653694	+	Splice_Site	SNP	G	G	T	rs143260124		TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr11:55653694G>T	ENST00000449290.2	+	3	599	c.507_splice	c.e3+1	p.K169_splice	TRIM51_ENST00000244891.3_Splice_Site_p.K26_splice	NM_032681.3	NP_116070.2	Q9BSJ1	SPRY5_HUMAN	tripartite motif-containing 51	169						intracellular	zinc ion binding										GATGCTGGAAGGTTAGTACCG	0.398000													21	40					6.21321e-17	1.01275e-16	0.002780	1	0
MIR517A	574479	broad.mit.edu	37	19	54215527	54215527	+	RNA	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr19:54215527G>T	ENST00000385001.1	+	0	6					NR_030201.1																						gaaGATCTCAGGCAGTGACCC	0.493000													16	31					2.48551e-13	3.69426e-13	0.004990	1	0
ENOX2	10495	broad.mit.edu	37	X	129799677	129799677	+	Silent	SNP	T	T	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chrX:129799677T>A	ENST00000338144.3	-	10	1458	c.1041A>T	c.(1039-1041)gcA>gcT	p.A347A	ENOX2_ENST00000370935.1_Silent_p.A318A|ENOX2_ENST00000370927.1_Silent_p.A347A|ENOX2_ENST00000394363.1_Silent_p.A318A	NM_182314.1	NP_872114.1	Q16206	ENOX2_HUMAN	ecto-NOX disulfide-thiol exchanger 2	347					cell growth|electron transport chain|regulation of growth|transport|ultradian rhythm	cytosol|external side of plasma membrane|extracellular space	nucleic acid binding|nucleotide binding|protein disulfide oxidoreductase activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(3)	33						AGTGGTCCCATGCCTTCTGCT	0.522000													5	15					0	0	0.001168	0	0
DRD5	1816	broad.mit.edu	37	4	9783849	9783849	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr4:9783849G>T	ENST00000304374.2	+	1	592	c.196G>T	c.(196-198)Gtg>Ttg	p.V66L		NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN	dopamine receptor D5	66					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane				NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)	CGCAGCCATCGTGCGGAGCCG	0.652000													8	16					0.00307968	0.00327858	0.003080	1	0
MYCBP2	23077	broad.mit.edu	37	13	77642954	77642954	+	Missense_Mutation	SNP	T	T	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr13:77642954T>C	ENST00000407578.2	-	70	12183	c.11917A>G	c.(11917-11919)Att>Gtt	p.I3973V	MYCBP2_ENST00000357337.6_Missense_Mutation_p.I3935V|MYCBP2_ENST00000544440.2_Missense_Mutation_p.I3935V	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	3935					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		GCTTGGACAATATGAGCACAC	0.363000													17	49					0	0	0.006122	0	0
PTPRD	5789	broad.mit.edu	37	9	8499771	8499771	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr9:8499771C>T	ENST00000381196.4	-	22	2741	c.2198G>A	c.(2197-2199)cGc>cAc	p.R733H	PTPRD_ENST00000360074.4_Missense_Mutation_p.R720H|PTPRD_ENST00000356435.5_Missense_Mutation_p.R733H|PTPRD_ENST00000358503.5_Missense_Mutation_p.R720H|PTPRD_ENST00000537002.1_Intron|PTPRD_ENST00000397606.3_Intron|PTPRD_ENST00000397611.3_Intron|PTPRD_ENST00000471274.1_5'UTR|PTPRD_ENST00000486161.1_Intron|PTPRD_ENST00000355233.5_Intron|PTPRD_ENST00000397617.3_Intron|PTPRD_ENST00000540109.1_Missense_Mutation_p.R733H	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	733	Fibronectin type-III 5.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		CACGGGTGAGCGCCATGAGAC	0.473000										TSP Lung(15;0.13)			47	23					0	0	0.003610	0	0
DYDC2	84332	broad.mit.edu	37	10	82122242	82122242	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr10:82122242G>T	ENST00000372199.1	+	4	641	c.43G>T	c.(43-45)Gcc>Tcc	p.A15S	DYDC2_ENST00000444807.2_Missense_Mutation_p.A15S|DYDC2_ENST00000372198.1_Missense_Mutation_p.A29S|DYDC2_ENST00000256039.2_Missense_Mutation_p.A15S|DYDC2_ENST00000372197.1_Missense_Mutation_p.A15S			Q96IM9	DYDC2_HUMAN	DPY30 domain containing 2	15							protein binding			breast(1)|large_intestine(3)|lung(6)|skin(1)	11			Colorectal(32;0.229)			AAATTGCCTGGCCCAGGCACT	0.453000													13	28					2.27111e-07	2.79507e-07	0.001368	1	0
PLXNB3	5365	broad.mit.edu	37	X	153039404	153039404	+	Missense_Mutation	SNP	T	T	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chrX:153039404T>G	ENST00000538966.1	+	21	3710	c.3439T>G	c.(3439-3441)Ttc>Gtc	p.F1147V	PLXNB3_ENST00000361971.5_Missense_Mutation_p.F1124V|PLXNB3_ENST00000538282.1_Missense_Mutation_p.F734V|PLXNB3_ENST00000538776.1_Missense_Mutation_p.F777V	NM_001163257.1	NP_001156729.1	Q9ULL4	PLXB3_HUMAN	plexin B3	1124					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)					GCGGGTCTTCTTCACCCTAGA	0.672000													13	61					0	0	0.003163	0	0
ZBTB33	10009	broad.mit.edu	37	X	119388309	119388309	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chrX:119388309G>T	ENST00000326624.2	+	2	1267	c.1039G>T	c.(1039-1041)Gac>Tac	p.D347Y	ZBTB33_ENST00000557385.1_Missense_Mutation_p.D347Y	NM_006777.3	NP_006768.1	Q86T24	KAISO_HUMAN	zinc finger and BTB domain containing 33	347					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.D347H(1)		breast(2)|central_nervous_system(2)|endometrium(6)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	26						CTCCAGTCCTGACTCGGCCGT	0.428000													43	72					1.76056e-25	3.27343e-25	0.002852	1	0
SWSAP1	126074	broad.mit.edu	37	19	11486600	11486600	+	Nonsense_Mutation	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr19:11486600C>T	ENST00000312423.2	+	2	657	c.598C>T	c.(598-600)Cga>Tga	p.R200*		NM_175871.3	NP_787067.2	Q6NVH7	CS039_HUMAN	SWIM-type zinc finger 7 associated protein 1	200																	GGTGACTTTCCGATCAGATGG	0.642000													5	13					0	0	0.000602	0	0
FANCL	55120	broad.mit.edu	37	2	58425717	58425717	+	Silent	SNP	A	A	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr2:58425717A>T	ENST00000402135.3	-	7	588	c.552T>A	c.(550-552)ccT>ccA	p.P184P	FANCL_ENST00000233741.4_Intron|FANCL_ENST00000403295.3_Intron|FANCL_ENST00000403676.1_Intron|FANCL_ENST00000540646.1_Intron	NM_001114636.1	NP_001108108.1	Q9NW38	FANCL_HUMAN	Fanconi anemia, complementation group L	180					DNA repair	cytoplasm|nucleoplasm	ubiquitin-protein ligase activity|zinc ion binding			endometrium(1)|large_intestine(1)|lung(4)|ovary(2)	8						AATTTACCTGAGGAGAATTTA	0.358000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				10	23					0	0	0.001368	0	0
STIM2	57620	broad.mit.edu	37	4	27019334	27019334	+	Splice_Site	SNP	G	G	T	rs140282649		TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr4:27019334G>T	ENST00000382009.3	+	12	2043	c.1774_splice	c.e12-1	p.G592_splice	STIM2_ENST00000467087.1_Splice_Site_p.G497_splice|STIM2_ENST00000465503.1_Splice_Site_p.G505_splice|STIM2_ENST00000412829.2_Splice_Site_p.G584_splice|STIM2_ENST00000237364.5_Splice_Site_p.G584_splice|STIM2_ENST00000467011.1_Splice_Site_p.G497_splice	NM_001169118.1	NP_001162589.1	Q9P246	STIM2_HUMAN	stromal interaction molecule 2	497					activation of store-operated calcium channel activity|calcium ion transport|cellular calcium ion homeostasis|negative regulation of calcium ion transport via store-operated calcium channel activity	endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium channel regulator activity|calcium ion binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	25		Breast(46;0.0503)				GTTTTTCAGGGACCATGGCTA	0.507000													27	85					0.000117367	0.000130834	0.005443	1	0
IGHV7-81	28378	broad.mit.edu	37	14	107282904	107282904	+	RNA	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr14:107282904G>T	ENST00000390639.2	-	0	292																											GAAGCCCTGGGCATATGTTGG	0.537000													16	134					2.32078e-09	3.08387e-09	0.003163	1	0
TEX19	400629	broad.mit.edu	37	17	80320452	80320452	+	Silent	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr17:80320452C>T	ENST00000333437.4	+	2	736	c.426C>T	c.(424-426)acC>acT	p.T142T		NM_207459.3	NP_997342.1	Q8NA77	TEX19_HUMAN	testis expressed 19	142						nucleus		p.T142T(1)		breast(1)|endometrium(1)|kidney(1)|lung(2)|upper_aerodigestive_tract(1)	6						CTGACTGGACCCAGGGTCTTC	0.582000													35	98					0	0	0.002836	0	0
PKD2	5311	broad.mit.edu	37	4	88983142	88983142	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr4:88983142G>T	ENST00000237596.2	+	10	2170	c.2104G>T	c.(2104-2106)Gat>Tat	p.D702Y	PKD2_ENST00000511337.1_3'UTR|PKD2_ENST00000508588.1_Missense_Mutation_p.D120Y|PKD2_ENST00000502363.1_Missense_Mutation_p.D120Y	NM_000297.3	NP_000288.1	Q13563	PKD2_HUMAN	polycystic kidney disease 2 (autosomal dominant)	702						basal cortex|basal plasma membrane|endoplasmic reticulum|integral to membrane|lamellipodium|microtubule basal body	calcium ion binding|cytoskeletal protein binding|voltage-gated chloride channel activity|voltage-gated sodium channel activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(2)|lung(15)|skin(4)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221)		OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237)		GGAACTCTCAGATCTTATCAG	0.333000													40	15					2.00842e-17	3.31051e-17	0.002522	1	0
PRDM5	11107	broad.mit.edu	37	4	121675745	121675745	+	Missense_Mutation	SNP	T	T	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr4:121675745T>C	ENST00000264808.3	-	14	1826	c.1586A>G	c.(1585-1587)aAt>aGt	p.N529S	PRDM5_ENST00000506065.1_5'UTR|PRDM5_ENST00000428209.2_Missense_Mutation_p.N498S|PRDM5_ENST00000515109.1_Intron	NM_018699.2	NP_061169.2	Q9NQX1	PRDM5_HUMAN	PR domain containing 5	529					histone deacetylation|histone H3-K9 methylation|mitotic cell cycle|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	repressing transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(17)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						CAGTCCATCATTTTTACTGAA	0.348000													11	26					0	0	0.001855	0	0
UGT1A7	54577	broad.mit.edu	37	2	234591295	234591295	+	Missense_Mutation	SNP	C	C	T	rs141296723	byFrequency	TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr2:234591295C>T	ENST00000373426.3	+	1	712	c.712C>T	c.(712-714)Cct>Tct	p.P238S	UGT1A8_ENST00000373450.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A9_ENST00000354728.4_Intron	NM_019077.2	NP_061950.2														NS(1)|endometrium(6)|kidney(5)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|prostate(1)|skin(1)	33		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;8.93e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000412)|Lung(119;0.00333)|LUSC - Lung squamous cell carcinoma(224;0.00746)		TCTCCAAACCCCTGTCACGGC	0.413000													67	249					0	0	0.003610	0	0
PLG	5340	broad.mit.edu	37	6	161135903	161135903	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr6:161135903T>A	ENST00000308192.9	+	6	688	c.625T>A	c.(625-627)Tgg>Agg	p.W209R		NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	209	Kringle 2.				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	ATGCCAGGCCTGGGACTCTCA	0.473000													4	28					0	0	0.001168	0	0
CTCFL	140690	broad.mit.edu	37	20	56099195	56099195	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr20:56099195G>A	ENST00000426658.2	-	1	728	c.67C>T	c.(67-69)Ccg>Tcg	p.P23S	CTCFL_ENST00000433949.2_Missense_Mutation_p.P23S|CTCFL_ENST00000432255.2_Missense_Mutation_p.P23S|CTCFL_ENST00000429804.2_Missense_Mutation_p.P23S|CTCFL_ENST00000423479.2_Missense_Mutation_p.P23S|CTCFL_ENST00000371196.2_Missense_Mutation_p.P23S|CTCFL_ENST00000422869.2_Missense_Mutation_p.P23S|CTCFL_ENST00000422109.2_Missense_Mutation_p.P23S|CTCFL_ENST00000243914.3_Missense_Mutation_p.P23S|CTCFL_ENST00000539382.1_Intron|CTCFL_ENST00000502686.2_Intron			Q8NI51	CTCFL_HUMAN	CCCTC-binding factor (zinc finger protein)-like	23					cell cycle|DNA methylation involved in gamete generation|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent	cytoplasm|nucleus	histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding	p.P23S(1)		NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			CCTTTTTCCGGCATCAACTCG	0.507000													203	241					0	0	0.003610	0	0
TCF25	22980	broad.mit.edu	37	16	89967134	89967134	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr16:89967134G>T	ENST00000263346.8	+	12	1369	c.1313G>T	c.(1312-1314)tGt>tTt	p.C438F	TCF25_ENST00000263347.7_Missense_Mutation_p.C203F	NM_014972.2	NP_055787.1	Q9BQ70	TCF25_HUMAN	transcription factor 25 (basic helix-loop-helix)	438					heart development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|large_intestine(1)|lung(8)|ovary(3)|skin(1)|urinary_tract(2)	18		all_cancers(9;4.71e-08)|Lung NSC(15;0.000192)|all_lung(18;0.000319)|all_neural(9;0.0122)|all_hematologic(23;0.027)		BRCA - Breast invasive adenocarcinoma(80;0.0288)		CTCCCTGAGTGTGAGCAGAGC	0.592000													20	22					6.33239e-15	9.87206e-15	0.010504	1	0
SRCAP	10847	broad.mit.edu	37	16	30735460	30735460	+	Missense_Mutation	SNP	T	T	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr16:30735460T>C	ENST00000262518.4	+	25	5100	c.4715T>C	c.(4714-4716)cTt>cCt	p.L1572P	SRCAP_ENST00000344771.4_Missense_Mutation_p.L1414P|SRCAP_ENST00000395059.2_Missense_Mutation_p.L1510P	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	1572	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)			CAGGCTTCCCTTCTGGCTCCA	0.602000													46	42					0	0	0.003610	0	0
SLC25A14	9016	broad.mit.edu	37	X	129499558	129499558	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chrX:129499558C>T	ENST00000218197.5	+	8	990	c.763C>T	c.(763-765)Ccg>Tcg	p.P255S	SLC25A14_ENST00000467496.1_3'UTR|SLC25A14_ENST00000339231.3_Missense_Mutation_p.P283S|SLC25A14_ENST00000361980.5_Missense_Mutation_p.P252S|SLC25A14_ENST00000543953.1_3'UTR	NM_003951.2|NM_022810.1	NP_003942.1|NP_073721.1	O95258	UCP5_HUMAN	solute carrier family 25 (mitochondrial carrier, brain), member 14	255					aerobic respiration|mitochondrial transport	integral to plasma membrane|mitochondrial inner membrane	binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)	22						GGCCTCCAACCCGGTTGATGT	0.478000													33	90					0	0	0.003755	0	0
GPR98	84059	broad.mit.edu	37	5	90059178	90059178	+	Silent	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr5:90059178G>T	ENST00000405460.2	+	59	12273	c.12177G>T	c.(12175-12177)acG>acT	p.T4059T		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	4059					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TGACATTGACGGTTGTCCGGT	0.418000													10	10					0.000442599	0.000484186	0.006214	1	0
C2orf80	389073	broad.mit.edu	37	2	209045976	209045976	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr2:209045976G>A	ENST00000341287.4	-	5	455	c.260C>T	c.(259-261)gCt>gTt	p.A87V	C2orf80_ENST00000451346.1_Missense_Mutation_p.A68V|C2orf80_ENST00000453017.1_Missense_Mutation_p.A87V	NM_001099334.2	NP_001092804.1	Q0P641	CB080_HUMAN	chromosome 2 open reading frame 80	87										endometrium(2)|large_intestine(3)|lung(6)|skin(2)	13						TAAAATCATAGCTTCTCGTTC	0.333000													15	52					0	0	0.004007	0	0
CSTF2	1478	broad.mit.edu	37	X	100078976	100078976	+	Silent	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chrX:100078976G>T	ENST00000415585.2	+	5	568	c.546G>T	c.(544-546)gtG>gtT	p.V182V	CSTF2_ENST00000486615.1_Intron|CSTF2_ENST00000372972.2_Silent_p.V182V			P33240	CSTF2_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa	182	Interactions with CSTF3 and SYMPK.				mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	cleavage body|mRNA cleavage and polyadenylation specificity factor complex	nucleotide binding|protein binding|RNA binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1)	13						TGAGAATTGTGGATCCGGAAA	0.463000													26	67					3.73148e-12	5.38787e-12	0.007291	1	0
NLRP10	338322	broad.mit.edu	37	11	7981222	7981222	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr11:7981222G>C	ENST00000328600.2	-	2	2098	c.1937C>G	c.(1936-1938)aCa>aGa	p.T646R		NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	646							ATP binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TGTTTCCTCTGTCCCTCTGCC	0.378000													8	35					0	0	0.004482	0	0
MYT1L	23040	broad.mit.edu	37	2	1893222	1893222	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr2:1893222C>G	ENST00000399161.2	-	16	3058	c.2311G>C	c.(2311-2313)Ggg>Cgg	p.G771R	MYT1L_ENST00000428368.2_Missense_Mutation_p.G769R	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	771					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		TCCAGGGTCCCGTTCTCATCC	0.597000													38	28					0	0	0.002522	0	0
OR52J3	119679	broad.mit.edu	37	11	5068433	5068433	+	Silent	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr11:5068433C>A	ENST00000380370.1	+	1	678	c.678C>A	c.(676-678)gtC>gtA	p.V226V		NM_001001916.2	NP_001001916.2	Q8NH60	O52J3_HUMAN	olfactory receptor, family 52, subfamily J, member 3	226			V -> I (in dbSNP:rs17350764).		sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|kidney(6)|large_intestine(6)|lung(19)|ovary(1)|skin(2)	36		Medulloblastoma(188;0.00131)|all_neural(188;0.0189)|Breast(177;0.0204)		Epithelial(150;9.29e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.19)		TCCGTGCTGTCTTCCGCCTCC	0.443000													47	78					3.39706e-21	5.99697e-21	0.003610	1	0
FRMPD3	84443	broad.mit.edu	37	X	106808204	106808204	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chrX:106808204G>C	ENST00000276185.4	+	13	1303	c.1303G>C	c.(1303-1305)Gtg>Ctg	p.V435L				Q5JV73	FRPD3_HUMAN	FERM and PDZ domain containing 3	435	FERM.					cytoskeleton				breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(16)|ovary(2)|urinary_tract(1)	28						CCTCACCACTGTGCTGTCCGA	0.587000													34	78					0	0	0.002096	0	0
CAMTA1	23261	broad.mit.edu	37	1	7527931	7527931	+	Silent	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:7527931C>T	ENST00000303635.7	+	6	687	c.480C>T	c.(478-480)acC>acT	p.T160T	CAMTA1_ENST00000439411.2_Silent_p.T160T	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	160					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		TCATCCCCACCTTCCACCGGA	0.547000			T	WWTR1	epitheliod hemangioendothelioma								49	91					0	0	0.003610	0	0
MAGEA11	4110	broad.mit.edu	37	X	148797683	148797683	+	Silent	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chrX:148797683C>A	ENST00000355220.5	+	5	639	c.537C>A	c.(535-537)tcC>tcA	p.S179S	MAGEA11_ENST00000333104.4_Silent_p.S150S	NM_005366.4	NP_005357.2	P43364	MAGAB_HUMAN	melanoma antigen family A, 11	179						cytoplasm|nucleus	protein binding			cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	9	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					AGGAAGAGTCCTTCTCTCCCA	0.562000													16	29					2.35188e-11	3.31751e-11	0.006122	1	0
FLYWCH1	84256	broad.mit.edu	37	16	2980841	2980841	+	Silent	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr16:2980841G>T	ENST00000399667.2	+	4	1119	c.756G>T	c.(754-756)ctG>ctT	p.L252L	FLYWCH1_ENST00000253928.9_Silent_p.L252L|FLYWCH1_ENST00000416288.2_Silent_p.L251L			Q4VC44	FWCH1_HUMAN	FLYWCH-type zinc finger 1	252						nucleus	DNA binding|metal ion binding			kidney(1)|lung(3)	4						CCCTGTCACTGCTGAGCCTGC	0.706000													6	8					0.00198382	0.00212583	0.001984	1	0
MAMLD1	10046	broad.mit.edu	37	X	149639337	149639337	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chrX:149639337C>A	ENST00000370401.2	+	4	1802	c.1492C>A	c.(1492-1494)Cag>Aag	p.Q498K	MAMLD1_ENST00000262858.5_Missense_Mutation_p.Q498K|MAMLD1_ENST00000432680.2_Missense_Mutation_p.Q473K|MAMLD1_ENST00000455522.2_5'UTR|MAMLD1_ENST00000426613.2_Missense_Mutation_p.Q473K			Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	498	Poly-Gln.				male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37	Acute lymphoblastic leukemia(192;6.56e-05)					gcagcagcagcagcagcagca	0.547000													11	37					0.00829132	0.00870055	0.008291	1	0
IGF2R	3482	broad.mit.edu	37	6	160468351	160468351	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr6:160468351G>T	ENST00000356956.1	+	16	2360	c.2212G>T	c.(2212-2214)Ggc>Tgc	p.G738C		NM_000876.2	NP_000867.2	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	738					receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)		CGCGGGAGTGGGCTTCCCTGA	0.507000													7	9					0.000274275	0.000301394	0.004482	1	0
ZBED1	9189	broad.mit.edu	37	X	2407570	2407570	+	Silent	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chrX:2407570C>A	ENST00000381223.4	-	2	1394	c.1191G>T	c.(1189-1191)ctG>ctT	p.L397L	DHRSX_ENST00000334651.5_Intron|ZBED1_ENST00000381218.3_Silent_p.L397L|ZBED1_ENST00000381222.2_Silent_p.L397L	NM_001171135.1|NM_001171136.1|NM_004729.3	NP_001164606.1|NP_001164607.1|NP_004720.1	O96006	ZBED1_HUMAN	zinc finger, BED-type containing 1	397						nuclear chromosome	DNA binding|metal ion binding|protein dimerization activity|transposase activity			endometrium(8)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	25		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GGAGCTCCACCAGCCCCTCGA	0.632000													19	13					2.4624e-09	3.26613e-09	0.008871	1	0
FAM135B	51059	broad.mit.edu	37	8	139278033	139278033	+	Silent	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr8:139278033C>A	ENST00000395297.1	-	4	380	c.210G>T	c.(208-210)cgG>cgT	p.R70R		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	70										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			TCTGAAAGACCCGGCTGTGCA	0.478000										HNSCC(54;0.14)			16	33					1.99824e-07	2.47795e-07	0.004990	1	0
PHEX	5251	broad.mit.edu	37	X	22051130	22051130	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chrX:22051130G>C	ENST00000379374.4	+	1	572	c.7G>C	c.(7-9)Gca>Cca	p.A3P	PHEX_ENST00000537599.1_Missense_Mutation_p.A3P	NM_000444.4	NP_000435.3	P78562	PHEX_HUMAN	phosphate regulating endopeptidase homolog, X-linked	3					biomineral tissue development|cell-cell signaling|protein modification process|proteolysis|skeletal system development	integral to plasma membrane	aminopeptidase activity|metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(2)|endometrium(2)|large_intestine(12)|liver(1)|lung(19)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	42						TCTGATGGAAGCAGAAACAGG	0.542000													20	60					0	0	0.008871	0	0
CD200R1	131450	broad.mit.edu	37	3	112647867	112647867	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr3:112647867C>A	ENST00000471858.1	-	4	728	c.496G>T	c.(496-498)Gta>Tta	p.V166L	CD200R1_ENST00000308611.3_Missense_Mutation_p.V189L|CD200R1_ENST00000440122.2_3'UTR|CD200R1_ENST00000295863.4_Missense_Mutation_p.V144L|CD200R1_ENST00000490004.1_3'UTR	NM_170780.2	NP_740750.1	Q8TD46	MO2R1_HUMAN	CD200 receptor 1	166	Ig-like C2-type.				interspecies interaction between organisms|regulation of immune response	extracellular region|integral to membrane|plasma membrane	receptor activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	26						GCCTTGCATACTGCAGTTCTA	0.473000													34	14					2.80507e-11	3.93784e-11	0.002445	1	0
AP5S1	55317	broad.mit.edu	37	20	3804570	3804570	+	Missense_Mutation	SNP	A	A	G	rs149938656		TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr20:3804570A>G	ENST00000246041.2	+	3	448	c.229A>G	c.(229-231)Atg>Gtg	p.M77V	AP5S1_ENST00000379567.2_Missense_Mutation_p.M77V|AP5S1_ENST00000379573.2_3'UTR			Q9NUS5	CT029_HUMAN	adaptor-related protein complex 5, sigma 1 subunit	77					double-strand break repair via homologous recombination		protein binding										CCGGCCCCCCATGGACCTGCA	0.652000													11	25					0	0	0.001855	0	0
HMBOX1	79618	broad.mit.edu	37	8	28827628	28827628	+	Missense_Mutation	SNP	A	A	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr8:28827628A>T	ENST00000397358.3	+	4	796	c.92A>T	c.(91-93)cAg>cTg	p.Q31L	HMBOX1_ENST00000444075.1_Missense_Mutation_p.Q31L|HMBOX1_ENST00000523613.1_Missense_Mutation_p.Q31L|HMBOX1_ENST00000558662.1_Missense_Mutation_p.Q31L|HMBOX1_ENST00000519047.1_Missense_Mutation_p.Q31L|HMBOX1_ENST00000524238.1_Missense_Mutation_p.Q31L|HMBOX1_ENST00000403668.2_Missense_Mutation_p.Q31L|HMBOX1_ENST00000355231.5_Missense_Mutation_p.Q31L|HMBOX1_ENST00000287701.10_Missense_Mutation_p.Q31L	NM_024567.3	NP_078843.2	Q6NT76	HMBX1_HUMAN	homeobox containing 1	31					negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	11		Ovarian(32;0.0192)		KIRC - Kidney renal clear cell carcinoma(542;0.135)|Kidney(114;0.161)		GATCTGCTTCAGCGACTTCGG	0.393000													26	31					0	0	0.004656	0	0
COLGALT1	79709	broad.mit.edu	37	19	17688833	17688833	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr19:17688833C>G	ENST00000252599.4	+	9	1321	c.1201C>G	c.(1201-1203)Cac>Gac	p.H401D		NM_024656.2	NP_078932.2			collagen beta(1-O)galactosyltransferase 1																		GGACCCCTACCACGGCCGGCC	0.632000													19	16					0	0	0.010504	0	0
PCDHGA1	56114	broad.mit.edu	37	5	140712366	140712366	+	Silent	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr5:140712366G>T	ENST00000517417.1	+	1	2115	c.2115G>T	c.(2113-2115)ctG>ctT	p.L705L	PCDHGA1_ENST00000378105.3_Silent_p.L705L	NM_018912.2	NP_061735.1														breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGTCTTCCTGGCCTTCGTCA	0.677000													15	73					1.5739e-10	2.16392e-10	0.004007	1	0
ASB11	140456	broad.mit.edu	37	X	15301747	15301747	+	Silent	SNP	T	T	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chrX:15301747T>A	ENST00000537676.1	-	7	861	c.789A>T	c.(787-789)ccA>ccT	p.P263P	ASB11_ENST00000344384.4_Silent_p.P263P|ASB11_ENST00000380470.3_Silent_p.P267P|ASB11_ENST00000480796.1_Silent_p.P284P			Q8WXH4	ASB11_HUMAN	ankyrin repeat and SOCS box containing 11	284			S -> G (in dbSNP:rs35859007).		intracellular signal transduction					breast(2)|central_nervous_system(4)|endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|skin(1)	16	Hepatocellular(33;0.183)					AAAGAGCAGGTGGGCCTGAGA	0.517000													20	58					0	0	0.010504	0	0
F9	2158	broad.mit.edu	37	X	138642944	138642944	+	Silent	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chrX:138642944C>A	ENST00000218099.2	+	7	775	c.768C>A	c.(766-768)atC>atA	p.I256I	F9_ENST00000394090.2_Silent_p.I218I	NM_000133.3	NP_000124.1	P00740	FA9_HUMAN	coagulation factor IX	256	Peptidase S1.				blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen|plasma membrane	calcium ion binding|serine-type endopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|skin(1)	35	Acute lymphoblastic leukemia(192;0.000127)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Heparin(DB01109)|Menadione(DB00170)	GAGGCTCTATCGTTAATGAAA	0.333000													37	78					9.42957e-07	1.13016e-06	0.007835	1	0
PAMR1	25891	broad.mit.edu	37	11	35463195	35463195	+	Silent	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr11:35463195C>A	ENST00000378880.2	-	7	1312	c.867G>T	c.(865-867)ggG>ggT	p.G289G	PAMR1_ENST00000378878.3_Silent_p.G178G|PAMR1_ENST00000278360.3_Silent_p.G306G|PAMR1_ENST00000532848.1_Silent_p.G249G	NM_001001991.1	NP_001001991.1	Q6UXH9	PAMR1_HUMAN	peptidase domain containing associated with muscle regeneration 1	289	Sushi 1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						TTTTCTGGTACCCATTGACTG	0.428000													44	52					2.00842e-17	3.31051e-17	0.002522	1	0
RNF150	57484	broad.mit.edu	37	4	141888788	141888788	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr4:141888788C>A	ENST00000420921.2	-	3	389	c.301G>T	c.(301-303)Gat>Tat	p.D101Y	RNF150_ENST00000379512.2_Missense_Mutation_p.D101Y|RNF150_ENST00000515673.1_Missense_Mutation_p.D242Y|RNF150_ENST00000306799.3_Intron|RNF150_ENST00000507500.1_Missense_Mutation_p.D242Y|RNF150_ENST00000515057.1_5'UTR			Q9ULK6	RN150_HUMAN	ring finger protein 150	242	PA.					integral to membrane	zinc ion binding			breast(1)|large_intestine(10)|lung(7)|ovary(1)	19	all_hematologic(180;0.162)					TGGTTCCTATCCCTGGCATTT	0.363000													32	14					3.1745e-13	4.71355e-13	0.008361	1	0
BTRC	8945	broad.mit.edu	37	10	103221745	103221745	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr10:103221745C>A	ENST00000370187.3	+	3	282	c.164C>A	c.(163-165)tCa>tAa	p.S55*	BTRC_ENST00000393441.4_Intron|BTRC_ENST00000408038.2_Nonsense_Mutation_p.S19*	NM_033637.3	NP_378663.1	Q9Y297	FBW1A_HUMAN	beta-transducin repeat containing E3 ubiquitin protein ligase	55					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|positive regulation of proteolysis|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|viral reproduction|Wnt receptor signaling pathway	cytosol|nucleus|SCF ubiquitin ligase complex				endometrium(4)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	27		Colorectal(252;0.234)		Epithelial(162;1.05e-08)|all cancers(201;6.59e-07)		CAGAATTCCTCAGAGAGAGAA	0.328000													12	47					0.00185496	0.00199211	0.001855	1	0
LINC00477	144360	broad.mit.edu	37	12	24736982	24736982	+	RNA	SNP	G	G	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr12:24736982G>C	ENST00000483544.1	-	0	120					NR_029451.2																						AAGAGAGTGGGGTAGCAGGAG	0.507000													29	81					0	0	0.002445	0	0
LATS1	9113	broad.mit.edu	37	6	150004668	150004668	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr6:150004668C>G	ENST00000543571.1	-	4	2104	c.1557G>C	c.(1555-1557)tgG>tgC	p.W519C	LATS1_ENST00000253339.5_Missense_Mutation_p.W519C|LATS1_ENST00000392273.3_Missense_Mutation_p.W519C|LATS1_ENST00000542747.1_5'UTR	NM_004690.3	NP_004681.1	O95835	LATS1_HUMAN	large tumor suppressor kinase 1	519					cell division|cytoplasmic sequestering of protein|G2/M transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|positive regulation of peptidyl-serine phosphorylation|regulation of actin filament polymerization|sister chromatid segregation	microtubule organizing center|spindle pole	ATP binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity			central_nervous_system(1)|lung(5)	6		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)		GCTGTGGTATCCAAGAAGGGT	0.458000													11	56					0	0	0.000978	0	0
USP24	23358	broad.mit.edu	37	1	55563650	55563650	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:55563650C>A	ENST00000294383.6	-	47	5560	c.5561G>T	c.(5560-5562)aGt>aTt	p.S1854I	USP24_ENST00000407756.1_Missense_Mutation_p.S1694I	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN	ubiquitin specific peptidase 24	1854					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						GTACGCATTACTTCCTTCTAG	0.348000													28	38					4.66903e-05	5.281e-05	0.002096	1	0
MYH11	4629	broad.mit.edu	37	16	15797965	15797965	+	Silent	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr16:15797965G>T	ENST00000396324.3	-	42	5910	c.5823C>A	c.(5821-5823)acC>acA	p.T1941T	MYH11_ENST00000573908.1_5'UTR|NDE1_ENST00000342673.5_Intron|NDE1_ENST00000396355.1_Intron|NDE1_ENST00000396354.1_Intron|MYH11_ENST00000452625.2_3'UTR|MYH11_ENST00000338282.6_3'UTR|MYH11_ENST00000300036.5_Silent_p.T1934T|MYH11_ENST00000576790.1_3'UTR	NM_001040114.1	NP_001035203.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	1934	Carboxyl-terminal.				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						GAACGAAAGAGGTCTCGTTTC	0.393000			T	CBFB	AML								32	61					7.11191e-15	1.10755e-14	0.002836	1	0
RP11-909M7.3	0	broad.mit.edu	37	14	101439954	101439954	+	RNA	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr14:101439954G>T	ENST00000554693.2	+	0	384				SNORD114-16_ENST00000363044.1_RNA																							GACTACTGGTGTGAGTCACGC	0.363000													8	23					9.70103e-10	1.2973e-09	0.008291	1	0
ALDH3A2	224	broad.mit.edu	37	17	19575133	19575133	+	Missense_Mutation	SNP	A	A	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr17:19575133A>T	ENST00000176643.6	+	9	1753	c.1307A>T	c.(1306-1308)aAc>aTc	p.N436I	ALDH3A2_ENST00000581518.1_Missense_Mutation_p.N436I|ALDH3A2_ENST00000579855.1_Missense_Mutation_p.N436I|ALDH3A2_ENST00000571163.1_Intron|ALDH3A2_ENST00000395575.2_Missense_Mutation_p.N436I|ALDH3A2_ENST00000339618.4_Missense_Mutation_p.N436I			P51648	AL3A2_HUMAN	aldehyde dehydrogenase 3 family, member A2	436					cellular aldehyde metabolic process|central nervous system development|epidermis development|lipid metabolic process|peripheral nervous system development	endoplasmic reticulum membrane|integral to membrane	3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase|aldehyde dehydrogenase (NAD) activity			endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(2)|ovary(2)|prostate(1)	13	all_cancers(12;1.39e-05)|all_epithelial(12;0.00158)|Breast(13;0.245)				NADH(DB00157)	GAAGGTGCTAACAAACTCAGA	0.408000													57	38					0	0	0.003610	0	0
ZDBF2	57683	broad.mit.edu	37	2	207171539	207171539	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr2:207171539G>C	ENST00000374423.3	+	5	2673	c.2287G>C	c.(2287-2289)Gag>Cag	p.E763Q		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	763							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						GTCAGTTACTGAGCAGTCTCA	0.403000													52	123					0	0	0.003610	0	0
FERMT1	55612	broad.mit.edu	37	20	6065747	6065747	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr20:6065747G>A	ENST00000217289.4	-	12	2347	c.1559C>T	c.(1558-1560)tCa>tTa	p.S520L	FERMT1_ENST00000478194.1_5'UTR|FERMT1_ENST00000536936.1_Missense_Mutation_p.S263L	NM_017671.4	NP_060141.3	Q9BQL6	FERM1_HUMAN	fermitin family member 1	520	FERM.				cell adhesion|establishment of epithelial cell polarity|keratinocyte migration|keratinocyte proliferation	cytosol|focal adhesion|ruffle membrane	binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	17						ACACCGTGGTGACACAAAACA	0.393000													31	57					0	0	0.002445	0	0
ZNF292	23036	broad.mit.edu	37	6	87968387	87968387	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr6:87968387G>C	ENST00000369577.3	+	8	5083	c.5040G>C	c.(5038-5040)caG>caC	p.Q1680H	ZNF292_ENST00000339907.4_Missense_Mutation_p.Q1675H	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	1680					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		GTGAACCTCAGAGTTTGGTGG	0.333000													5	8					0	0	0.000602	0	0
ZNF407	55628	broad.mit.edu	37	18	72344865	72344865	+	Silent	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr18:72344865G>T	ENST00000299687.5	+	1	1890	c.1890G>T	c.(1888-1890)gtG>gtT	p.V630V	ZNF407_ENST00000309902.6_Silent_p.V630V|ZNF407_ENST00000582337.1_Silent_p.V630V|ZNF407_ENST00000577538.1_Silent_p.V630V	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	630					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		AAAAAGATGTGGAAGAACACA	0.358000													23	61					2.89027e-11	4.04582e-11	0.002299	1	0
PCDHGC4	56098	broad.mit.edu	37	5	140864778	140864778	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr5:140864778G>C	ENST00000306593.1	+	1	38	c.38G>C	c.(37-39)cGg>cCg	p.R13P	PCDHGC3_ENST00000308177.3_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA12_ENST00000252085.3_Intron	NM_018928.2|NM_032406.1	NP_061751.1|NP_115782.1														NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(13)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	42			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAAATCTGGCGGTGGGCTACC	0.572000													10	17					0	0	0.008291	0	0
PCDH15	65217	broad.mit.edu	37	10	56138679	56138679	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr10:56138679G>T	ENST00000373965.2	-	4	575	c.181C>A	c.(181-183)Ctg>Atg	p.L61M	PCDH15_ENST00000361849.3_Missense_Mutation_p.L61M|PCDH15_ENST00000414778.1_Missense_Mutation_p.L66M|PCDH15_ENST00000395432.2_Missense_Mutation_p.L61M|PCDH15_ENST00000437009.1_Missense_Mutation_p.L61M|PCDH15_ENST00000373957.3_Missense_Mutation_p.L39M|PCDH15_ENST00000395446.1_Missense_Mutation_p.L61M|PCDH15_ENST00000320301.6_Missense_Mutation_p.L61M|PCDH15_ENST00000395438.1_Missense_Mutation_p.L61M|PCDH15_ENST00000395442.1_Missense_Mutation_p.L61M|PCDH15_ENST00000373955.1_Missense_Mutation_p.L61M|PCDH15_ENST00000395440.1_Missense_Mutation_p.L61M|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395433.1_Missense_Mutation_p.L39M|PCDH15_ENST00000395430.1_Missense_Mutation_p.L61M|PCDH15_ENST00000395445.1_Missense_Mutation_p.L61M	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	61	Cadherin 1.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				CCTTTGATCAGCATGTTGTCC	0.403000										HNSCC(58;0.16)			35	94					1.30998e-17	2.16657e-17	0.005524	1	0
HIST1H3D	8351	broad.mit.edu	37	6	26197189	26197189	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr6:26197189C>T	ENST00000377831.5	-	2	743	c.290G>A	c.(289-291)tGc>tAc	p.C97Y	HIST1H3D_ENST00000356476.2_Missense_Mutation_p.C97Y	NM_003530.3	NP_003521.2	P68431	H31_HUMAN	histone cluster 1, H3d	97					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			NS(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)	14		all_hematologic(11;0.196)				GTAGGCCTCGCAGGCCTCCTG	0.597000													40	55					0	0	0.009718	0	0
TBC1D8	11138	broad.mit.edu	37	2	101644861	101644861	+	Silent	SNP	T	T	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr2:101644861T>C	ENST00000409318.1	-	13	2386	c.2256A>G	c.(2254-2256)ccA>ccG	p.P752P	TBC1D8_ENST00000376840.4_Silent_p.P737P	NM_001102426.1	NP_001095896.1	O95759	TBCD8_HUMAN	TBC1 domain family, member 8 (with GRAM domain)	737					blood circulation|positive regulation of cell proliferation	intracellular|membrane	calcium ion binding|Rab GTPase activator activity			breast(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	32						CTGGGGGCCCTGGGCTGTCCT	0.557000													54	35					0	0	0.003610	0	0
SLC7A3	84889	broad.mit.edu	37	X	70146814	70146814	+	Missense_Mutation	SNP	T	T	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chrX:70146814T>G	ENST00000374299.3	-	9	1508	c.1364A>C	c.(1363-1365)aAg>aCg	p.K455T	SLC7A3_ENST00000298085.4_Missense_Mutation_p.K455T			Q8WY07	CTR3_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 3	455					cellular nitrogen compound metabolic process	integral to membrane|plasma membrane				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|urinary_tract(1)	31	Renal(35;0.156)				L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	TAGGGTCAACTTCTCTGATTC	0.478000													8	45					0	0	0.003080	0	0
MARCH1	55016	broad.mit.edu	37	4	164506997	164506997	+	Silent	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr4:164506997G>T	ENST00000503008.1	-	6	1303	c.327C>A	c.(325-327)tcC>tcA	p.S109S	MARCH1_ENST00000274056.7_Silent_p.S109S|MARCH1_ENST00000339875.5_Silent_p.S92S|MARCH1_ENST00000514618.1_Silent_p.S365S	NM_001166373.1	NP_001159845.1	Q8TCQ1	MARH1_HUMAN	membrane-associated ring finger (C3HC4) 1, E3 ubiquitin protein ligase	109					antigen processing and presentation of peptide antigen via MHC class II|immune response	cytoplasmic vesicle membrane|early endosome membrane|Golgi apparatus|integral to membrane|late endosome membrane|lysosomal membrane|plasma membrane	MHC protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(3)|lung(20)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	36	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				GGTGGAGGCAGGACTGGTGGA	0.542000													7	33					1.6384e-10	2.24001e-10	0.001984	1	0
MAGIX	79917	broad.mit.edu	37	X	49022561	49022561	+	Silent	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chrX:49022561C>A	ENST00000376338.3	+	4	730	c.651C>A	c.(649-651)gcC>gcA	p.A217A	MAGIX_ENST00000412696.2_Silent_p.A276A|MAGIX_ENST00000498742.1_3'UTR|MAGIX_ENST00000425661.2_Silent_p.A200A|MAGIX_ENST00000376339.1_Silent_p.A212A			Q9H6Y5	MAGIX_HUMAN	MAGI family member, X-linked	276																	CAGAGGCGGCCGCCGATGGCC	0.692000													7	17					0.00307968	0.00327858	0.003080	1	0
C6orf222	389384	broad.mit.edu	37	6	36290124	36290124	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr6:36290124C>G	ENST00000437635.2	-	9	1744	c.1567G>C	c.(1567-1569)Gaa>Caa	p.E523Q		NM_001010903.4	NP_001010903.3	P0C671	CF222_HUMAN	chromosome 6 open reading frame 222	523										breast(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(4)|urinary_tract(4)	26						GGTGCCCCTTCTGGCGTGTGG	0.587000													76	58					0	0	0.003610	0	0
TAOK2	9344	broad.mit.edu	37	16	29997038	29997038	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr16:29997038G>T	ENST00000308893.4	+	15	2891	c.1848G>T	c.(1846-1848)caG>caT	p.Q616H	TAOK2_ENST00000543033.1_Missense_Mutation_p.Q616H|TAOK2_ENST00000416441.2_Missense_Mutation_p.Q443H|TAOK2_ENST00000279394.3_Missense_Mutation_p.Q616H	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	616					actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						TGCTGCGGCAGAAGGAGCAGC	0.662000													3	9					0.00909568	0.0094903	0.009096	1	0
CD163	9332	broad.mit.edu	37	12	7640054	7640054	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr12:7640054G>A	ENST00000359156.4	-	8	2153	c.1951C>T	c.(1951-1953)Cac>Tac	p.H651Y	CD163_ENST00000432237.2_Missense_Mutation_p.H651Y|CD163_ENST00000396620.3_Missense_Mutation_p.H684Y|CD163_ENST00000541972.1_Missense_Mutation_p.H639Y	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	651	SRCR 6.				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						CCAGTGCAGTGAAACATATGC	0.493000													12	67					0	0	0.000978	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125284970	125284970	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr2:125284970T>A	ENST00000431078.1	+	10	1947	c.1583T>A	c.(1582-1584)gTt>gAt	p.V528D		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	528	Laminin G-like 2.				cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		CTCATTTCAGTTCAGCAAGGT	0.438000													8	62					0	0	0.004482	0	0
SACS	26278	broad.mit.edu	37	13	23909383	23909383	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr13:23909383C>A	ENST00000382298.3	-	10	9220	c.8632G>T	c.(8632-8634)Ggg>Tgg	p.G2878W	SACS_ENST00000402364.1_Missense_Mutation_p.G2128W|SACS_ENST00000382292.3_Missense_Mutation_p.G2878W	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	2878					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		AATGGCAGCCCAGTCTCCAAA	0.458000													7	31					5.18039e-06	6.05549e-06	0.003080	1	0
KCTD7	154881	broad.mit.edu	37	7	66098289	66098289	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr7:66098289G>T	ENST00000275532.3	+	2	356	c.172G>T	c.(172-174)Gga>Tga	p.G58*	KCTD7_ENST00000443322.1_Nonsense_Mutation_p.G58*	NM_001167961.2|NM_153033.4	NP_001161433.1|NP_694578.1	Q96MP8	KCTD7_HUMAN	potassium channel tetramerization domain containing 7	58	BTB.					voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|urinary_tract(1)	16						CCTTAACATCGGAGGGGCTCA	0.572000													17	13					2.48551e-13	3.69426e-13	0.004990	1	0
DEK	7913	broad.mit.edu	37	6	18236822	18236822	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr6:18236822G>C	ENST00000397239.3	-	9	1355	c.908C>G	c.(907-909)tCt>tGt	p.S303C	DEK_ENST00000244776.7_Missense_Mutation_p.S269C	NM_003472.3	NP_003463.1	P35659	DEK_HUMAN	DEK oncogene	303	Asp/Glu-rich (acidic).				chromatin modification|regulation of transcription from RNA polymerase II promoter|signal transduction|transcription from RNA polymerase II promoter|viral genome replication	nucleus	DNA binding|histone binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	7	Ovarian(93;0.00769)|Breast(50;0.0495)	all_hematologic(90;0.053)	OV - Ovarian serous cystadenocarcinoma(7;0.00291)|all cancers(50;0.031)|Epithelial(50;0.0332)			ACTATCCTCAGACTCACTTTC	0.289000			T	NUP214	AML								5	42					0	0	0.000602	0	0
AMER1	139285	broad.mit.edu	37	X	63411982	63411982	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chrX:63411982C>A	ENST00000330258.3	-	2	1457	c.1185G>T	c.(1183-1185)gaG>gaT	p.E395D	AMER1_ENST00000403336.1_Missense_Mutation_p.E395D|AMER1_ENST00000374869.3_Missense_Mutation_p.E395D	NM_152424.3	NP_689637.3			APC membrane recruitment protein 1									p.0?(67)									ccttaacctcctcttcttcct	0.502000													18	32					4.75885e-15	7.44268e-15	0.004990	1	0
FOXC2	2303	broad.mit.edu	37	16	86602192	86602192	+	Silent	SNP	C	C	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr16:86602192C>G	ENST00000320354.4	+	1	1336	c.1251C>G	c.(1249-1251)gcC>gcG	p.A417A		NM_005251.2	NP_005242.1	Q99958	FOXC2_HUMAN	forkhead box C2 (MFH-1, mesenchyme forkhead 1)	417	Ala/Pro-rich.|Poly-Ala.				anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|embryonic viscerocranium morphogenesis|insulin receptor signaling pathway|lymphangiogenesis|metanephros development|negative regulation of transcription from RNA polymerase II promoter|neural crest cell fate commitment|Notch signaling pathway|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of cell adhesion mediated by integrin|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of vascular wound healing|regulation of blood vessel size|regulation of organ growth|regulation of sequence-specific DNA binding transcription factor activity|somitogenesis|ureteric bud development|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	transcription factor complex	chromatin DNA binding|DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	15						ccggggccgccgcggcGCAGG	0.761000									Late-onset Hereditary Lymphedema				4	9					0	0	0.009096	0	0
PARK2	5071	broad.mit.edu	37	6	162206851	162206851	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr6:162206851C>G	ENST00000366898.1	-	7	926	c.824G>C	c.(823-825)cGg>cCg	p.R275P	PARK2_ENST00000366896.1_Missense_Mutation_p.R126P|PARK2_ENST00000366897.1_Missense_Mutation_p.R247P|PARK2_ENST00000338468.3_Missense_Mutation_p.R84P|PARK2_ENST00000366892.1_Missense_Mutation_p.R275P|PARK2_ENST00000366894.1_Missense_Mutation_p.R84P	NM_004562.2	NP_004553.2	O60260	PRKN2_HUMAN	parkin RBR E3 ubiquitin protein ligase	275	SYT11 binding 2.		R -> W (in PARK2 and PARK; early and late onset; impairs the ability to ubiquitinate SNCAIP; dbSNP:rs34424986).		aggresome assembly|central nervous system development|mitochondrion degradation|negative regulation of actin filament bundle assembly|negative regulation of cell death|negative regulation of protein phosphorylation|negative regulation of release of cytochrome c from mitochondria|neuron death|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein monoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of autophagy|regulation of reactive oxygen species metabolic process	aggresome|cytosol|endoplasmic reticulum|Golgi apparatus|mitochondrion|nucleus|perinuclear region of cytoplasm	chaperone binding|PDZ domain binding|protein kinase binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046)		AACAAACTGCCGATCATTGAG	0.478000													6	11					0	0	0.001168	0	0
CERS5	91012	broad.mit.edu	37	12	50528463	50528463	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr12:50528463C>G	ENST00000317551.6	-	9	1019	c.895G>C	c.(895-897)Gag>Cag	p.E299Q	CERS5_ENST00000422340.2_Missense_Mutation_p.E241Q	NM_147190.2	NP_671723.1	Q8N5B7	CERS5_HUMAN	ceramide synthase 5	299	TLC.				ceramide biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity										TCCCAACTCTCAAAGAGGGTC	0.512000													37	101					0	0	0.005524	0	0
KRT27	342574	broad.mit.edu	37	17	38937451	38937451	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr17:38937451G>T	ENST00000301656.3	-	2	556	c.516C>A	c.(514-516)gaC>gaA	p.D172E		NM_181537.3	NP_853515.2	Q7Z3Y8	K1C27_HUMAN	keratin 27	172	Coil 1B.|Rod.					cytoplasm|intermediate filament	structural molecule activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(3)|skin(1)|stomach(1)	21		Breast(137;0.000812)				TTAGTCTGAAGTCATCAGCTG	0.333000													8	14					5.4927e-09	7.22025e-09	0.004482	1	0
ARHGAP1	392	broad.mit.edu	37	11	46701249	46701249	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr11:46701249G>T	ENST00000311956.4	-	11	1073	c.976C>A	c.(976-978)Cct>Act	p.P326T		NM_004308.2	NP_004299.1	Q07960	RHG01_HUMAN	Rho GTPase activating protein 1	326	Rho-GAP.				Rho protein signal transduction	cytosol|intracellular membrane-bounded organelle	SH3 domain binding|SH3/SH2 adaptor activity			endometrium(1)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	11		Lung NSC(402;1.76e-12)|all_lung(304;1.3e-11)		GBM - Glioblastoma multiforme(35;5.17e-06)|BRCA - Breast invasive adenocarcinoma(625;0.00112)|Lung(87;0.153)		AGGGGCTCAGGAAGCTCCCGG	0.617000													22	35					1.9806e-07	2.46232e-07	0.002299	1	0
ABCA2	20	broad.mit.edu	37	9	139913231	139913231	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr9:139913231C>A	ENST00000265662.5	-	13	1906	c.1759G>T	c.(1759-1761)Gag>Tag	p.E587*	ABCA2_ENST00000341511.6_Nonsense_Mutation_p.E587*|ABCA2_ENST00000371605.3_Nonsense_Mutation_p.E586*|ABCA2_ENST00000492260.1_5'UTR			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	586					cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		ACAATGCTCTCCTCGTCGTGG	0.647000													5	25					3.59834e-05	4.09524e-05	0.001168	1	0
FBLN7	129804	broad.mit.edu	37	2	112922696	112922696	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr2:112922696C>A	ENST00000331203.2	+	3	625	c.354C>A	c.(352-354)agC>agA	p.S118R	FBLN7_ENST00000409450.3_Missense_Mutation_p.S118R|FBLN7_ENST00000472377.1_3'UTR|FBLN7_ENST00000409667.3_Missense_Mutation_p.S118R|FBLN7_ENST00000409903.1_Missense_Mutation_p.S118R	NM_001128165.1|NM_153214.2	NP_001121637.1|NP_694946.2	Q53RD9	FBLN7_HUMAN	fibulin 7	118	Sushi.				cell adhesion	proteinaceous extracellular matrix	calcium ion binding|heparin binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						GGCCCAGCAGCGTGGTGTGTC	0.577000													40	41					5.20837e-25	9.61092e-25	0.008740	1	0
ZIC4	84107	broad.mit.edu	37	3	147108856	147108856	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr3:147108856C>A	ENST00000383075.3	-	4	1378	c.866G>T	c.(865-867)gGg>gTg	p.G289V	ZIC4_ENST00000425731.3_Missense_Mutation_p.G327V|ZIC4_ENST00000484399.1_Missense_Mutation_p.G289V|ZIC4_ENST00000491672.1_Missense_Mutation_p.G83V|ZIC4_ENST00000473123.1_Missense_Mutation_p.G289V|ZIC4_ENST00000525172.2_Missense_Mutation_p.G339V|ZIC4_ENST00000472749.2_5'UTR	NM_032153.5	NP_115529.2	Q8N9L1	ZIC4_HUMAN	Zic family member 4	289						nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						CGGCGAGCGCCCGTGCACCTT	0.662000													36	26					2.32173e-10	3.16836e-10	0.004878	1	0
MIR517A	574479	broad.mit.edu	37	19	54215528	54215528	+	RNA	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr19:54215528G>T	ENST00000385001.1	+	0	7					NR_030201.1																						aaGATCTCAGGCAGTGACCCT	0.493000													16	32					2.48551e-13	3.69426e-13	0.004990	1	0
RCC1	1104	broad.mit.edu	37	1	28861844	28861844	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:28861844G>T	ENST00000373833.6	+	9	898	c.613G>T	c.(613-615)Ggc>Tgc	p.G205C	RCC1_ENST00000398958.2_Missense_Mutation_p.G205C|RCC1_ENST00000429051.1_3'UTR|RCC1_ENST00000373832.1_Missense_Mutation_p.G205C|RCC1_ENST00000373831.3_Missense_Mutation_p.G236C			P18754	RCC1_HUMAN	regulator of chromosome condensation 1	205					cell division|chromosome segregation|G1/S transition of mitotic cell cycle|mitosis|mitotic spindle organization|regulation of mitosis|regulation of S phase of mitotic cell cycle|spindle assembly|viral reproduction	condensed nuclear chromosome|cytoplasm|nuclear chromatin|nuclear membrane|nucleoplasm	histone binding|nucleosomal DNA binding|Ran guanyl-nucleotide exchange factor activity			breast(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;0.000318)|all_lung(284;0.000434)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.00989)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)|Medulloblastoma(700;0.123)		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|KIRC - Kidney renal clear cell carcinoma(1967;0.0101)|BRCA - Breast invasive adenocarcinoma(304;0.022)|READ - Rectum adenocarcinoma(331;0.0649)		GGGCCAGCTAGGCCGTGTGCC	0.587000													15	34					3.27435e-08	4.16246e-08	0.002450	1	0
KRTAP13-1	140258	broad.mit.edu	37	21	31768821	31768821	+	Silent	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr21:31768821C>A	ENST00000355459.2	+	1	430	c.417C>A	c.(415-417)tcC>tcA	p.S139S		NM_181599.2	NP_853630.2	Q8IUC0	KR131_HUMAN	keratin associated protein 13-1	139						intermediate filament				endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GCTTCCCTTCCCTGGGCTATG	0.572000													6	38					5.9392e-07	7.18286e-07	0.001168	1	0
ARNT	405	broad.mit.edu	37	1	150811989	150811989	+	Silent	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:150811989G>A	ENST00000358595.5	-	6	614	c.414C>T	c.(412-414)caC>caT	p.H138H	ARNT_ENST00000354396.2_Silent_p.H138H|ARNT_ENST00000515192.1_Silent_p.H129H|ARNT_ENST00000505755.1_Silent_p.H123H	NM_001197325.1|NM_001668.3|NM_178427.2	NP_001184254.1|NP_001659.1|NP_848514.1	P27540	ARNT_HUMAN	aryl hydrocarbon receptor nuclear translocator	138	Helix-loop-helix motif.				positive regulation of hormone biosynthetic process|positive regulation vascular endothelial growth factor production|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|response to hypoxia		aryl hydrocarbon receptor binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|prostate(2)|skin(4)|stomach(1)	34	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.02)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211)			AGGACTTCATGTGAGAAACTG	0.498000			T	ETV6	AML								55	69					0	0	0.003610	0	0
CELSR3	1951	broad.mit.edu	37	3	48697443	48697443	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr3:48697443G>T	ENST00000544264.1	-	1	2905	c.2625C>A	c.(2623-2625)agC>agA	p.S875R	CELSR3_ENST00000164024.4_Missense_Mutation_p.S875R			Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	875	Cadherin 6.				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		ccactatggtgctacccattg	0.517000													27	16					3.73808e-20	6.50506e-20	0.005443	1	0
FCGR2B	2213	broad.mit.edu	37	1	161645088	161645088	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:161645088C>A	ENST00000367962.4	+	6	929	c.802C>A	c.(802-804)Ctc>Atc	p.L268I	FCGR2B_ENST00000236937.9_Intron|FCGR2B_ENST00000367961.4_Missense_Mutation_p.L261I|FCGR2B_ENST00000358671.5_Missense_Mutation_p.L268I|FCGR2B_ENST00000403078.3_Intron|FCGR2B_ENST00000367960.5_Missense_Mutation_p.L261I			P31994	FCG2B_HUMAN	Fc fragment of IgG, low affinity IIb, receptor (CD32)	268					immune response|interspecies interaction between organisms|regulation of immune response	integral to membrane|plasma membrane	IgG binding|receptor activity					all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	GGGAGAGACCCTCCCTGAGAA	0.602000			T	?	ALL								6	14					2.7689e-08	3.54448e-08	0.001984	1	0
FCGBP	8857	broad.mit.edu	37	19	40433917	40433917	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr19:40433917C>A	ENST00000221347.6	-	2	359	c.352G>T	c.(352-354)Gtg>Ttg	p.V118L		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	118	IgGFc-binding.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			AGTGCCTGCACAGAGATGGCA	0.577000													12	25					1.61879e-10	2.21734e-10	0.001368	1	0
CSNK2A3	283106	broad.mit.edu	37	11	11373917	11373917	+	Silent	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr11:11373917C>A	ENST00000528848.2	-	1	987	c.750G>T	c.(748-750)ggG>ggT	p.G250G	GALNT18_ENST00000227756.4_Intron	NM_001256686.1	NP_001243615.1			casein kinase 2, alpha 3 polypeptide																		AATCTTCTGTCCCCAGAAACT	0.418000													8	92					2.4624e-09	3.26613e-09	0.008871	1	0
GRAMD1C	54762	broad.mit.edu	37	3	113659180	113659180	+	Silent	SNP	G	G	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr3:113659180G>C	ENST00000358160.4	+	17	2388	c.1896G>C	c.(1894-1896)gtG>gtC	p.V632V	GRAMD1C_ENST00000479212.1_3'UTR|GRAMD1C_ENST00000452134.2_Silent_p.V361V|GRAMD1C_ENST00000440446.2_Silent_p.V427V|GRAMD1C_ENST00000472026.1_Silent_p.V465V	NM_017577.4	NP_060047.3	Q8IYS0	GRM1C_HUMAN	GRAM domain containing 1C	632						integral to membrane				NS(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	26						ACTCCATAGTGATGCTTGAAC	0.408000													31	94					0	0	0.003271	0	0
SORCS1	114815	broad.mit.edu	37	10	108339228	108339228	+	Silent	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr10:108339228G>T	ENST00000263054.6	-	25	3277	c.3270C>A	c.(3268-3270)ccC>ccA	p.P1090P	SORCS1_ENST00000369698.1_Silent_p.P625P|SORCS1_ENST00000344440.6_Silent_p.P1090P	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	1090						integral to membrane	neuropeptide receptor activity|protein binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		GGTCCACCAGGGGGGCTTGTG	0.512000													6	21					0.00307968	0.00327858	0.003080	1	0
SP100	6672	broad.mit.edu	37	2	231406611	231406611	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr2:231406611G>A	ENST00000340126.4	+	28	2439	c.2408G>A	c.(2407-2409)aGa>aAa	p.R803K	AC010149.4_ENST00000455357.1_RNA|AC010149.4_ENST00000414539.1_RNA	NM_001080391.1	NP_001073860.1	P23497	SP100_HUMAN	SP100 nuclear antigen	0					DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|interspecies interaction between organisms|negative regulation of cellular component movement|negative regulation of DNA binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of viral transcription|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to cytokine stimulus|response to retinoic acid|response to type I interferon	cytoplasm|nuclear periphery|nucleolus|PML body	chromo shadow domain binding|DNA binding|identical protein binding|kinase binding|protein homodimerization activity|transcription coactivator activity|transcription corepressor activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1)	25		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		CAACAGAACAGAGAGGGGTCT	0.473000													11	44					0	0	0.008291	0	0
DMD	1756	broad.mit.edu	37	X	32717312	32717312	+	Nonsense_Mutation	SNP	C	C	A	rs128626239		TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chrX:32717312C>A	ENST00000357033.4	-	8	954	c.748G>T	c.(748-750)Gaa>Taa	p.E250*	DMD_ENST00000288447.4_Nonsense_Mutation_p.E242*|DMD_ENST00000378677.2_Nonsense_Mutation_p.E246*	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	250					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				ATTTCCACTTCCTGGATGGCT	0.393000													22	61					1.28384e-07	1.59745e-07	0.001882	1	0
OR51B2	79345	broad.mit.edu	37	11	5344970	5344970	+	Silent	SNP	A	A	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr11:5344970A>G	ENST00000328813.2	-	1	612	c.558T>C	c.(556-558)gcT>gcC	p.A186A	HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron	NM_033180.4	NP_149420.4	Q9Y5P1	O51B2_HUMAN	olfactory receptor, family 51, subfamily B, member 2	186					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|biliary_tract(1)|central_nervous_system(1)|large_intestine(6)|lung(21)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGTCAGCACAAGCCAGTCTCA	0.373000													8	54					0	0	0.004482	0	0
ZNF215	7762	broad.mit.edu	37	11	6977037	6977037	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr11:6977037C>A	ENST00000278319.5	+	7	1417	c.829C>A	c.(829-831)Cag>Aag	p.Q277K	ZNF215_ENST00000529903.1_Intron|ZNF215_ENST00000527171.1_3'UTR|ZNF215_ENST00000414517.2_Missense_Mutation_p.Q277K	NM_013250.2	NP_037382.2	Q9UL58	ZN215_HUMAN	zinc finger protein 215	277					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(4)	32				Epithelial(150;6.33e-08)|BRCA - Breast invasive adenocarcinoma(625;0.134)		ATATAGGAACCAGAAAAAATG	0.393000													36	86					1.07121e-22	1.9211e-22	0.006999	1	0
PRKCH	5583	broad.mit.edu	37	14	61920037	61920037	+	Missense_Mutation	SNP	T	T	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr14:61920037T>G	ENST00000332981.5	+	7	1311	c.926T>G	c.(925-927)aTg>aGg	p.M309R	PRKCH_ENST00000555082.1_Missense_Mutation_p.M148R	NM_006255.3	NP_006246.2	P24723	KPCL_HUMAN	protein kinase C, eta	309					intracellular signal transduction|platelet activation	cytosol|plasma membrane	ATP binding|enzyme binding|metal ion binding|protein kinase C activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(4)|ovary(2)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25				OV - Ovarian serous cystadenocarcinoma(108;0.045)|BRCA - Breast invasive adenocarcinoma(234;0.0906)|KIRC - Kidney renal clear cell carcinoma(182;0.182)		CTGGCAGGGATGGGTCTCCAA	0.468000													4	33					0	0	0.009096	0	0
IGSF1	3547	broad.mit.edu	37	X	130409233	130409233	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chrX:130409233G>A	ENST00000370904.1	-	23	4095	c.3185C>T	c.(3184-3186)gCc>gTc	p.A1062V	IGSF1_ENST00000370903.3_Missense_Mutation_p.A1076V|IGSF1_ENST00000361420.3_Missense_Mutation_p.A1071V|IGSF1_ENST00000370910.1_Missense_Mutation_p.A1062V			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	1071					regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						ACCAGGCTGGGCTAATAGGCT	0.537000													34	80					0	0	0.004289	0	0
TTN	7273	broad.mit.edu	37	2	179434111	179434111	+	Missense_Mutation	SNP	A	A	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr2:179434111A>G	ENST00000589042.1	-	326	76972	c.76748T>C	c.(76747-76749)tTa>tCa	p.L25583S	TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.L16518S|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.L16710S|TTN_ENST00000591111.1_Missense_Mutation_p.L23942S|TTN_ENST00000342992.6_Missense_Mutation_p.L23015S|TTN_ENST00000359218.5_Missense_Mutation_p.L16643S|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	23942	Fibronectin type-III 86.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCTGTTTTCTAATGTAAGCGT	0.413000													32	110					0	0	0.008361	0	0
UNC5D	137970	broad.mit.edu	37	8	35583812	35583812	+	Missense_Mutation	SNP	A	A	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr8:35583812A>C	ENST00000287272.2	+	9	1259	c.1239A>C	c.(1237-1239)aaA>aaC	p.K413N	UNC5D_ENST00000416672.1_Missense_Mutation_p.K487N|UNC5D_ENST00000420357.1_Missense_Mutation_p.K415N|UNC5D_ENST00000453357.2_Missense_Mutation_p.K477N|UNC5D_ENST00000404895.2_Missense_Mutation_p.K482N|UNC5D_ENST00000449677.1_Missense_Mutation_p.K58N			Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	482					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)		CGGACATCAAAGTGAAAGTCC	0.522000													5	15					0	0	0.000602	0	0
MORC4	79710	broad.mit.edu	37	X	106228325	106228325	+	Splice_Site	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chrX:106228325C>A	ENST00000355610.4	-	5	949		c.e5+1		MORC4_ENST00000535534.1_Intron|MORC4_ENST00000255495.7_Splice_Site	NM_001085354.2|NM_024657.4	NP_001078823.1|NP_078933.3	Q8TE76	MORC4_HUMAN	MORC family CW-type zinc finger 4								ATP binding|zinc ion binding			endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	28						GAATACTATACCTGCGGATGT	0.348000													27	47					2.65835e-16	4.27609e-16	0.007291	1	0
SFMBT2	57713	broad.mit.edu	37	10	7290516	7290516	+	Silent	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr10:7290516C>T	ENST00000361972.4	-	8	1056	c.966G>A	c.(964-966)gtG>gtA	p.V322V	SFMBT2_ENST00000397167.1_Silent_p.V322V	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	322					regulation of transcription, DNA-dependent	nucleus				NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						CCACCTTAGTCACCGACGCAG	0.493000													8	14					0	0	0.006214	0	0
CIDEB	27141	broad.mit.edu	37	14	24775613	24775613	+	Silent	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr14:24775613C>T	ENST00000336557.5	-	6	1605	c.303G>A	c.(301-303)gtG>gtA	p.V101V	NOP9_ENST00000267425.3_3'UTR|CIDEB_ENST00000556756.1_5'UTR|CIDEB_ENST00000554411.1_Silent_p.V101V|CIDEB_ENST00000258807.5_Silent_p.V101V			Q9UHD4	CIDEB_HUMAN	cell death-inducing DFFA-like effector b	101	CIDE-N.				apoptosis|DNA damage response, signal transduction resulting in induction of apoptosis	cytosol				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|urinary_tract(1)	7				GBM - Glioblastoma multiforme(265;0.0181)		CAGACTGCAACACCATCAGGC	0.552000													17	110					0	0	0.008871	0	0
ILF2	3608	broad.mit.edu	37	1	153635230	153635230	+	Silent	SNP	G	G	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:153635230G>C	ENST00000361891.4	-	13	1088	c.963C>G	c.(961-963)ctC>ctG	p.L321L	ILF2_ENST00000480213.1_5'UTR	NM_001267809.1|NM_004515.3	NP_001254738.1|NP_004506.2	Q12905	ILF2_HUMAN	interleukin enhancer binding factor 2	321	DZF.				immune response|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus|ribonucleoprotein complex	ATP binding|DNA binding|double-stranded RNA binding|protein binding|transferase activity			cervix(1)|kidney(1)|lung(4)|skin(1)	7	all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			CACCATGTGAGAGGATTCGGA	0.468000													25	95					0	0	0.004656	0	0
SNX29	92017	broad.mit.edu	37	16	12492348	12492348	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr16:12492348G>T	ENST00000566228.1	+	17	2014	c.1945G>T	c.(1945-1947)Gat>Tat	p.D649Y	SNX29_ENST00000306030.3_Missense_Mutation_p.D264Y|SNX29_ENST00000323433.4_Missense_Mutation_p.D264Y	NM_032167.3	NP_115543.3	Q8TEQ0	SNX29_HUMAN	sorting nexin 29	264					cell communication		phosphatidylinositol binding			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	7						GAGTTTGTCGGATTTTGAAAT	0.488000													24	51					1.32181e-22	2.36764e-22	0.007291	1	0
BUB1	699	broad.mit.edu	37	2	111431761	111431761	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr2:111431761C>G	ENST00000535254.1	-	2	134	c.67G>C	c.(67-69)Gaa>Caa	p.E23Q	BUB1_ENST00000409311.1_Missense_Mutation_p.E43Q|BUB1_ENST00000302759.6_Missense_Mutation_p.E43Q	NM_001278616.1	NP_001265545.1	O43683	BUB1_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase	43	BUB1 N-terminal.|Necessary for kinetochore localization.				apoptosis|cell division|chromosome segregation|interspecies interaction between organisms|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|regulation of sister chromatid cohesion	condensed chromosome kinetochore|cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			breast(3)|endometrium(8)|kidney(4)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|stomach(1)	45		Ovarian(717;0.0822)		BRCA - Breast invasive adenocarcinoma(221;0.0556)		ATCAAGTATTCTTTATTCTCA	0.289000													10	38					0	0	0.008291	0	0
ARHGAP19-SLIT1	100533184	broad.mit.edu	37	10	99016090	99016090	+	Silent	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr10:99016090G>A	ENST00000453547.2	-	6	911	c.912C>T	c.(910-912)tcC>tcT	p.S304S	ARHGAP19_ENST00000371027.1_Silent_p.S295S|ARHGAP19_ENST00000358531.4_Silent_p.S304S|ARHGAP19-SLIT1_ENST00000358308.3_Intron|ARHGAP19_ENST00000355366.5_Silent_p.S295S|ARHGAP19-SLIT1_ENST00000316676.8_Silent_p.S304S|ARHGAP19_ENST00000487035.1_Intron																							AAAGTTTCTGGGAGTGTTTAA	0.393000													5	142					0	0	0.001984	0	0
RNF130	55819	broad.mit.edu	37	5	179393827	179393827	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr5:179393827C>T	ENST00000522208.2	-	7	1147	c.1129G>A	c.(1129-1131)Gaa>Aaa	p.E377K	RNF130_ENST00000261947.4_Missense_Mutation_p.E377K|RNF130_ENST00000521389.1_Missense_Mutation_p.E377K			Q86XS8	GOLI_HUMAN	ring finger protein 130	377					apoptosis	cytoplasm|integral to membrane|nucleus	ubiquitin-protein ligase activity|zinc ion binding			breast(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	17	all_cancers(89;5.49e-05)|all_epithelial(37;1.94e-05)|Renal(175;0.000159)|Lung NSC(126;0.00118)|all_lung(126;0.00212)	all_cancers(40;0.0294)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ATGTTGATTTCTCCTGTTCTC	0.587000													11	6					0	0	0.000978	0	0
CERKL	375298	broad.mit.edu	37	2	182403888	182403888	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr2:182403888G>T	ENST00000410087.3	-	12	1569	c.1469C>A	c.(1468-1470)gCt>gAt	p.A490D	CERKL_ENST00000374969.2_Missense_Mutation_p.A377D|CERKL_ENST00000409440.3_Missense_Mutation_p.A472D|CERKL_ENST00000374970.2_Missense_Mutation_p.A421D|CERKL_ENST00000339098.5_Missense_Mutation_p.A516D	NM_001030311.2|NM_201548.4	NP_001025482.1|NP_963842.1	Q49MI3	CERKL_HUMAN	ceramide kinase-like	516					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis	endoplasmic reticulum|Golgi apparatus|nucleolus	diacylglycerol kinase activity			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(13)|ovary(3)|skin(3)	32			OV - Ovarian serous cystadenocarcinoma(117;0.088)			ATTTTCTGAAGCAGTTTCATC	0.373000													119	70					1.90269e-63	3.75168e-63	0.003610	1	0
RHOBTB2	23221	broad.mit.edu	37	8	22864676	22864676	+	Silent	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr8:22864676G>T	ENST00000251822.6	+	5	1455	c.918G>T	c.(916-918)ggG>ggT	p.G306G	RHOBTB2_ENST00000519685.1_Silent_p.G328G|RP11-875O11.1_ENST00000523884.1_RNA|RHOBTB2_ENST00000522948.1_Silent_p.G313G|RP11-875O11.1_ENST00000502083.2_RNA	NM_015178.2	NP_055993.2	Q9BYZ6	RHBT2_HUMAN	Rho-related BTB domain containing 2	306	BTB 1.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	31		Prostate(55;0.0513)|Breast(100;0.214)		Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)		GGGAGCTGGGGGGCCCCTCGG	0.622000													13	31					1.52009e-12	2.21447e-12	0.003163	1	0
LOC220729	220729	broad.mit.edu	37	3	197346729	197346729	+	RNA	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr3:197346729C>T	ENST00000418868.1	-	0	715					NR_003266.2																						GCAAAATACTCCACAAAACAG	0.423000													13	44					0	0	0.001855	0	0
GDI1	2664	broad.mit.edu	37	X	153670947	153670947	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chrX:153670947G>T	ENST00000447750.2	+	11	1607	c.1272G>T	c.(1270-1272)atG>atT	p.M424I	GDI1_ENST00000465640.1_3'UTR	NM_001493.2	NP_001484.1	P31150	GDIA_HUMAN	GDP dissociation inhibitor 1	424					protein transport|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|midbody	GTPase activator activity|protein binding			autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	16	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)					ACAAACGCATGGCTGGCACGG	0.547000													19	79					1.40151e-16	2.27184e-16	0.010504	1	0
KLHL1	57626	broad.mit.edu	37	13	70293684	70293684	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr13:70293684C>A	ENST00000377844.4	-	9	2591	c.1832G>T	c.(1831-1833)aGt>aTt	p.S611I	KLHL1_ENST00000545028.1_Missense_Mutation_p.S418I	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	611					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding	p.S611I(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		CAAACAGGAACTTCCATCACG	0.388000													15	9					1.3612e-06	1.62613e-06	0.003163	1	0
BCL6	604	broad.mit.edu	37	3	187447769	187447769	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr3:187447769C>G	ENST00000406870.2	-	5	790	c.424G>C	c.(424-426)Gag>Cag	p.E142Q	RP11-211G3.3_ENST00000437407.1_Intron|BCL6_ENST00000232014.4_Missense_Mutation_p.E142Q|RP11-211G3.3_ENST00000449623.1_Intron|BCL6_ENST00000450123.2_Missense_Mutation_p.E142Q	NM_001706.4	NP_001697.2	P41182	BCL6_HUMAN	B-cell CLL/lymphoma 6	142					negative regulation of B cell apoptosis|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|protein import into nucleus, translocation|regulation of germinal center formation|response to DNA damage stimulus	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(9)|lung(10)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	40	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)		TTGAGGAACTCTTCACGAGGA	0.527000			"""T, Mis"""	"""IG loci, ZNFN1A1, LCP1, PIM1, TFRC, CIITA, NACA, HSPCB, HSPCA, HIST1H4I, IL21R,  POU2AF1, ARHH, EIF4A2, SFRS3"""	"""NHL, CLL"""								7	115					0	0	0.001984	0	0
NR4A2	4929	broad.mit.edu	37	2	157186008	157186008	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr2:157186008C>A	ENST00000339562.4	-	3	1053	c.691G>T	c.(691-693)Ggc>Tgc	p.G231C	NR4A2_ENST00000409108.2_Missense_Mutation_p.G231C|NR4A2_ENST00000429376.1_Missense_Mutation_p.G168C|NR4A2_ENST00000539077.1_Missense_Mutation_p.G242C|NR4A2_ENST00000409572.1_Missense_Mutation_p.G231C|NR4A2_ENST00000426264.1_Missense_Mutation_p.G168C	NM_006186.3	NP_006177.1	P43354	NR4A2_HUMAN	nuclear receptor subfamily 4, group A, member 2	231	Pro-rich.				cellular response to extracellular stimulus|dopaminergic neuron differentiation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus	nucleoplasm	sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	40						CCCGGGAAGCCCATGGACGCG	0.721000													9	17					2.17888e-05	2.4933e-05	0.006214	1	0
SDF2	6388	broad.mit.edu	37	17	26982305	26982305	+	Splice_Site	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr17:26982305C>A	ENST00000247020.4	-	2	646	c.348_splice	c.e2+1	p.Q116_splice	SDF2_ENST00000592250.1_5'UTR	NM_006923.3	NP_008854.2	Q99470	SDF2_HUMAN	stromal cell-derived factor 2	116	MIR 2.				protein glycosylation	extracellular space|membrane	dolichyl-phosphate-mannose-protein mannosyltransferase activity			endometrium(1)|large_intestine(2)|lung(2)|prostate(2)	7	Lung NSC(42;0.00431)					GCCACCTCACCTGGTTTCCAG	0.483000													16	62					1.15088e-07	1.43566e-07	0.004007	1	0
FIGLA	344018	broad.mit.edu	37	2	71012617	71012617	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr2:71012617C>A	ENST00000332372.6	-	3	543	c.539G>T	c.(538-540)gGt>gTt	p.G180V		NM_001004311.3	NP_001004311.2	Q6QHK4	FIGLA_HUMAN	folliculogenesis specific basic helix-loop-helix	180					multicellular organismal development|oocyte development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcription factor complex	DNA binding|transcription factor binding			endometrium(2)|lung(3)	5						TGCTGGCTCACCACTGCCACC	0.483000													101	351					1.50986e-39	2.93763e-39	0.003610	1	0
BAI3	577	broad.mit.edu	37	6	70071016	70071016	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr6:70071016G>T	ENST00000370598.1	+	29	4672	c.3851G>T	c.(3850-3852)tGt>tTt	p.C1284F	BAI3_ENST00000546190.1_Missense_Mutation_p.C248F|BAI3_ENST00000238918.8_Missense_Mutation_p.C490F	NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	1284					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				GTGTACTTATGTACGGATGAT	0.403000													12	43					1.36491e-13	2.05789e-13	0.001855	1	0
SLC9A9	285195	broad.mit.edu	37	3	142985726	142985726	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr3:142985726C>A	ENST00000316549.6	-	16	1964	c.1756G>T	c.(1756-1758)Gaa>Taa	p.E586*		NM_173653.3	NP_775924.1	Q8IVB4	SL9A9_HUMAN	solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9	586					regulation of pH	integral to membrane|late endosome membrane|recycling endosome	sodium:hydrogen antiporter activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(13)|lung(29)|ovary(2)|skin(3)|stomach(1)	57						ATGGCTAGTTCATCCTGGTTT	0.493000													53	40					2.48254e-18	4.18127e-18	0.003610	1	0
CCDC77	84318	broad.mit.edu	37	12	547537	547537	+	Silent	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr12:547537C>T	ENST00000239830.4	+	10	1037	c.858C>T	c.(856-858)acC>acT	p.T286T	CCDC77_ENST00000412006.2_Silent_p.T254T|CCDC77_ENST00000422000.1_Silent_p.T254T|CCDC77_ENST00000540180.1_Silent_p.T254T	NM_032358.3	NP_115734.1	Q9BR77	CCD77_HUMAN	coiled-coil domain containing 77	286						centrosome				cervix(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(10;0.0149)|all_epithelial(11;0.035)|all_lung(10;0.111)|Ovarian(42;0.142)|Lung NSC(10;0.156)		OV - Ovarian serous cystadenocarcinoma(31;0.00123)|BRCA - Breast invasive adenocarcinoma(9;0.033)			ATGAGAGCACCAAAGATTTTC	0.393000													23	35					0	0	0.004656	0	0
PCDH10	57575	broad.mit.edu	37	4	134084222	134084222	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr4:134084222G>C	ENST00000264360.4	+	4	3714	c.2888G>C	c.(2887-2889)gGa>gCa	p.G963A		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	963					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		CCTTCTGATGGACGCCAGGCT	0.522000													27	29					0	0	0.003954	0	0
PCDHGA6	56109	broad.mit.edu	37	5	140754055	140754055	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr5:140754055G>T	ENST00000517434.1	+	1	405	c.405G>T	c.(403-405)aaG>aaT	p.K135N	PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1														breast(1)|large_intestine(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GATTCTTAAAGGAAGAATTGG	0.428000													16	21					3.32936e-07	4.07354e-07	0.006122	1	0
LAMC2	3918	broad.mit.edu	37	1	183189969	183189969	+	Silent	SNP	A	A	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:183189969A>G	ENST00000264144.4	+	5	578	c.513A>G	c.(511-513)tcA>tcG	p.S171S	LAMC2_ENST00000493293.1_Silent_p.S171S	NM_005562.2	NP_005553.2	Q13753	LAMC2_HUMAN	laminin, gamma 2	171	Laminin EGF-like 3.				cell adhesion|epidermis development|hemidesmosome assembly		heparin binding			breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						GGTGTCGATCAGGTTACTATA	0.448000													7	29					0	0	0.004482	0	0
PTPRF	5792	broad.mit.edu	37	1	44071284	44071284	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:44071284G>T	ENST00000359947.4	+	19	3814	c.3474G>T	c.(3472-3474)gaG>gaT	p.E1158D	PTPRF_ENST00000372413.3_Missense_Mutation_p.E1149D|PTPRF_ENST00000372414.3_Missense_Mutation_p.E1158D|PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000422171.2_Missense_Mutation_p.E506D|PTPRF_ENST00000438120.1_Missense_Mutation_p.E1149D	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	1158					transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				AGGAACTGGAGCTGGACGAGG	0.627000													8	21					1.58986e-06	1.89159e-06	0.008291	1	0
DHX16	8449	broad.mit.edu	37	6	30638193	30638193	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr6:30638193C>A	ENST00000376442.3	-	4	855	c.660G>T	c.(658-660)aaG>aaT	p.K220N		NM_001164239.1|NM_003587.4	NP_001157711.1|NP_003578.2	O60231	DHX16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 16	220					mRNA processing|RNA splicing	nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity	p.K220N(1)|p.K220_A221>NS(1)		kidney(2)|ovary(2)	4						TCACCATGGCCTTCCGGTCTT	0.517000													7	45					8.12818e-05	9.08845e-05	0.001984	1	0
PYGL	5836	broad.mit.edu	37	14	51383714	51383714	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr14:51383714C>A	ENST00000216392.7	-	8	1297	c.965G>T	c.(964-966)gGt>gTt	p.G322V	PYGL_ENST00000544180.2_Missense_Mutation_p.G288V|PYGL_ENST00000532462.1_Missense_Mutation_p.G322V	NM_002863.4	NP_002854.3	P06737	PYGL_HUMAN	phosphorylase, glycogen, liver	322					glucose homeostasis|glucose metabolic process|glycogen catabolic process	cytosol|soluble fraction	AMP binding|ATP binding|bile acid binding|drug binding|glucose binding|glycogen phosphorylase activity|protein homodimerization activity|purine base binding|pyridoxal phosphate binding			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(3)	25	all_epithelial(31;0.00825)|Breast(41;0.148)				Adenosine monophosphate(DB00131)|Pyridoxal Phosphate(DB00114)|Riboflavin(DB00140)	AGTTCCTGCACCACGGGTGGA	0.498000													16	67					3.32936e-07	4.07354e-07	0.006122	1	0
PAGE5	90737	broad.mit.edu	37	X	55248250	55248250	+	Silent	SNP	T	T	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chrX:55248250T>C	ENST00000289619.5	+	3	437	c.192T>C	c.(190-192)gaT>gaC	p.D64D	PAGE5_ENST00000374952.1_Silent_p.D44D|PAGE5_ENST00000374955.3_Silent_p.D44D	NM_130467.3	NP_569734.2	Q96GU1	GGEE1_HUMAN	P antigen family, member 5 (prostate associated)	64										breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	8						CACCAACTGATAATCAGGGTA	0.453000													8	14					0	0	0.001368	0	0
NINL	22981	broad.mit.edu	37	20	25457663	25457663	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr20:25457663C>T	ENST00000278886.6	-	17	2337	c.2264G>A	c.(2263-2265)aGa>aAa	p.R755K	NINL_ENST00000422516.1_Intron	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	755					G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						GGTCAGGTCTCTGCGAGCGGG	0.682000													6	15					0	0	0.001984	0	0
STRA8	346673	broad.mit.edu	37	7	134916754	134916754	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr7:134916754G>C	ENST00000275764.3	+	1	24	c.24G>C	c.(22-24)aaG>aaC	p.K8N		NM_182489.1	NP_872295.1	Q7Z7C7	STRA8_HUMAN	stimulated by retinoic acid 8	8					DNA replication|regulation of transcription, DNA-dependent	cytoplasm|nucleus				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|skin(1)|urinary_tract(1)	16						ATGTGGACAAGATCCTCTTTT	0.483000													52	27					0	0	0.003610	0	0
TPCN2	219931	broad.mit.edu	37	11	68851461	68851461	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr11:68851461C>T	ENST00000294309.3	+	19	1839	c.1738C>T	c.(1738-1740)Cgt>Tgt	p.R580C	TPCN2_ENST00000542467.1_Intron|TPCN2_ENST00000442692.2_3'UTR	NM_139075.3	NP_620714.2	Q8NHX9	TPC2_HUMAN	two pore segment channel 2	580					cellular calcium ion homeostasis|smooth muscle contraction	endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated calcium channel activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	32			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			GCAGAACATGCGTGCGTTTGG	0.662000													14	42					0	0	0.004990	0	0
TSPYL6	388951	broad.mit.edu	37	2	54482321	54482321	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr2:54482321G>T	ENST00000317802.7	-	1	1088	c.968C>A	c.(967-969)tCt>tAt	p.S323Y	ACYP2_ENST00000303536.4_Intron|ACYP2_ENST00000607452.1_Intron|ACYP2_ENST00000394666.3_Intron|ACYP2_ENST00000606865.1_Intron	NM_001003937.2	NP_001003937.2	Q8N831	TSYL6_HUMAN	TSPY-like 6	323					nucleosome assembly	nucleus				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(1)|ovary(1)|skin(1)|stomach(2)	20						AGTGGAAAAAGACACCACTTG	0.468000													28	57					8.58068e-18	1.42558e-17	0.007291	1	0
PPRC1	23082	broad.mit.edu	37	10	103898426	103898426	+	Silent	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr10:103898426G>T	ENST00000278070.2	+	3	432	c.393G>T	c.(391-393)ctG>ctT	p.L131L	PPRC1_ENST00000413464.2_Silent_p.L131L	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1	131					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding			central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		TCACGGCTCTGACGGAGATCT	0.512000													18	31					1.99824e-07	2.47795e-07	0.004990	1	0
SCN11A	11280	broad.mit.edu	37	3	38889159	38889159	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr3:38889159C>A	ENST00000450244.1	-	26	4600	c.4402G>T	c.(4402-4404)Gct>Tct	p.A1468S	SCN11A_ENST00000456224.3_Missense_Mutation_p.A1430S|SCN11A_ENST00000302328.3_Missense_Mutation_p.A1468S			Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	1468					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	CCAATCCGAGCCAAGCGGACA	0.488000													8	20					0.00185496	0.00199211	0.001855	1	0
OR13J1	392309	broad.mit.edu	37	9	35869685	35869685	+	Silent	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr9:35869685G>A	ENST00000377981.2	-	1	776	c.714C>T	c.(712-714)ttC>ttT	p.F238F		NM_001004487.1	NP_001004487.1	Q8NGT2	O13J1_HUMAN	olfactory receptor, family 13, subfamily J, member 1	238					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|large_intestine(1)|lung(3)|skin(1)	6	all_epithelial(49;0.169)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00494)|STAD - Stomach adenocarcinoma(86;0.194)			AGCAGGTGGAGAAGGCTTTGC	0.567000													9	13					0	0	0.004482	0	0
FANK1	92565	broad.mit.edu	37	10	127693610	127693610	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr10:127693610G>A	ENST00000368695.1	+	7	801	c.679G>A	c.(679-681)Ggc>Agc	p.G227S	FANK1_ENST00000477963.1_3'UTR|FANK1_ENST00000368693.1_Missense_Mutation_p.G233S	NM_145235.3	NP_660278.3	Q8TC84	FANK1_HUMAN	fibronectin type III and ankyrin repeat domains 1	233						cytoplasm|nucleus				central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(10)|ovary(1)|urinary_tract(1)	21		all_lung(145;0.00752)|Lung NSC(174;0.0115)|Colorectal(57;0.0847)|all_neural(114;0.0936)				GATAAAGGATGGCTGTGAGGT	0.542000													37	72					0	0	0.005524	0	0
OR4K2	390431	broad.mit.edu	37	14	20345054	20345054	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr14:20345054T>A	ENST00000298642.2	+	1	664	c.628T>A	c.(628-630)Tgt>Agt	p.C210S		NM_001005501.1	NP_001005501.1	Q8NGD2	OR4K2_HUMAN	olfactory receptor, family 4, subfamily K, member 2	210					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TGCGTTGTCCTGTTTTATTGT	0.398000													16	109					0	0	0.006122	0	0
PNN	5411	broad.mit.edu	37	14	39644496	39644496	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr14:39644496G>T	ENST00000216832.4	+	1	80	c.13G>T	c.(13-15)Gtg>Ttg	p.V5L	PNN_ENST00000553331.1_Missense_Mutation_p.V5L|PNN_ENST00000556530.1_Missense_Mutation_p.V5L|RP11-407N17.4_ENST00000556537.1_lincRNA	NM_002687.3	NP_002678.2	Q9H307	PININ_HUMAN	pinin, desmosome associated protein	5	Necessary for interaction with RNPS1.|Necessary for interactions with KRT8, KRT18 and KRT19.|Necessary for mediating alternative 5' splicing.				cell adhesion|regulation of transcription, DNA-dependent|transcription, DNA-dependent	catalytic step 2 spliceosome|desmosome|intermediate filament|nuclear speck	DNA binding|protein binding|structural molecule activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)|stomach(1)	27	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0119)		GGCGGTCGCCGTGAGAACTTT	0.607000													51	14					6.03219e-31	1.14776e-30	0.003610	1	0
IL16	3603	broad.mit.edu	37	15	81517848	81517848	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr15:81517848C>A	ENST00000394660.2	+	2	468	c.108C>A	c.(106-108)agC>agA	p.S36R	IL16_ENST00000302987.4_Missense_Mutation_p.S36R	NM_001172128.1|NM_172217.3	NP_001165599.1|NP_757366.2	Q14005	IL16_HUMAN	interleukin 16	36					immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						ATGGCTCTAGCCCTGATGAGA	0.517000													18	19					5.35267e-07	6.5003e-07	0.007413	1	0
FHL1	2273	broad.mit.edu	37	X	135288703	135288703	+	Missense_Mutation	SNP	A	A	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chrX:135288703A>T	ENST00000543669.1	+	2	823	c.112A>T	c.(112-114)Aac>Tac	p.N38Y	FHL1_ENST00000477080.1_3'UTR|FHL1_ENST00000370690.3_Missense_Mutation_p.N38Y|FHL1_ENST00000535737.1_Missense_Mutation_p.N38Y|FHL1_ENST00000370676.3_Missense_Mutation_p.N54Y|FHL1_ENST00000345434.3_Missense_Mutation_p.N38Y|FHL1_ENST00000539015.1_Missense_Mutation_p.N67Y|FHL1_ENST00000394153.2_Missense_Mutation_p.N38Y|FHL1_ENST00000370683.1_Missense_Mutation_p.N54Y|FHL1_ENST00000394155.2_Missense_Mutation_p.N38Y	NM_001159704.1	NP_001153176.1	Q13642	FHL1_HUMAN	four and a half LIM domains 1	38					cell differentiation|cell growth|muscle organ development|organ morphogenesis	cytosol|nucleus|plasma membrane	protein binding|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(192;0.000127)					GTTCTGTGCCAACACCTGTGT	0.552000													37	114					0	0	0.006999	0	0
PCDHGA6	56109	broad.mit.edu	37	5	140754056	140754056	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr5:140754056G>T	ENST00000517434.1	+	1	406	c.406G>T	c.(406-408)Gaa>Taa	p.E136*	PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1														breast(1)|large_intestine(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATTCTTAAAGGAAGAATTGGA	0.428000													16	22					5.3912e-06	6.28189e-06	0.006122	1	0
SUCO	51430	broad.mit.edu	37	1	172539803	172539803	+	Splice_Site	SNP	A	A	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:172539803A>T	ENST00000367723.3	+	9	1583	c.1458_splice	c.e9-1	p.S487_splice	SUCO_ENST00000263688.3_Splice_Site_p.S328_splice	NM_016227.2	NP_057311.2			SUN domain containing ossification factor																		TTTAAAATAGAGCACATCTGC	0.269000													16	30					0	0	0.004990	0	0
CLEC18B	497190	broad.mit.edu	37	16	74455116	74455116	+	Missense_Mutation	SNP	A	A	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr16:74455116A>C	ENST00000339953.5	-	1	174	c.53T>G	c.(52-54)cTg>cGg	p.L18R		NM_001011880.2	NP_001011880.2	Q6UXF7	CL18B_HUMAN	C-type lectin domain family 18, member B	18						extracellular region	sugar binding			endometrium(3)|kidney(9)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						AAGGAGGGCCAGGAGCACAGC	0.682000													20	18					0	0	0.001882	0	0
OR10Z1	128368	broad.mit.edu	37	1	158576491	158576491	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:158576491G>T	ENST00000361284.1	+	1	263	c.263G>T	c.(262-264)gGg>gTg	p.G88V		NM_001004478.1	NP_001004478.1	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z, member 1	88					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37	all_hematologic(112;0.0378)					CTGGCTGGGGGGGACCAGGCT	0.552000													56	113					2.76378e-25	5.11928e-25	0.003610	1	0
CLP1	10978	broad.mit.edu	37	11	57428834	57428834	+	Silent	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr11:57428834C>T	ENST00000533682.1	+	3	1929	c.1204C>T	c.(1204-1206)Ctg>Ttg	p.L402L	CLP1_ENST00000529430.1_Silent_p.L413L|CLP1_ENST00000525602.1_Silent_p.L402L|CLP1_ENST00000302731.4_Silent_p.L338L			Q92989	CLP1_HUMAN	cleavage and polyadenylation factor I subunit 1	402					mRNA 3'-end processing|nuclear mRNA splicing, via spliceosome|siRNA loading onto RISC involved in RNA interference|targeting of mRNA for destruction involved in RNA interference|termination of RNA polymerase II transcription|tRNA splicing, via endonucleolytic cleavage and ligation	nucleoplasm|tRNA-intron endonuclease complex	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|ATP-dependent polyribonucleotide 5'-hydroxyl-kinase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|stomach(1)	15						GTTTACTGTTCTGTCTCCAGC	0.532000													12	75					0	0	0.001368	0	0
PAK3	5063	broad.mit.edu	37	X	110439096	110439096	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chrX:110439096C>A	ENST00000519681.1	+	16	1642	c.1200C>A	c.(1198-1200)caC>caA	p.H400Q	PAK3_ENST00000360648.4_Missense_Mutation_p.H415Q|PAK3_ENST00000372010.1_Missense_Mutation_p.H394Q|PAK3_ENST00000425146.1_Missense_Mutation_p.H379Q|PAK3_ENST00000518291.1_Missense_Mutation_p.H415Q|PAK3_ENST00000372007.4_Missense_Mutation_p.H379Q|PAK3_ENST00000446737.1_Missense_Mutation_p.H379Q|PAK3_ENST00000262836.4_Missense_Mutation_p.H394Q|PAK3_ENST00000417227.1_Missense_Mutation_p.H400Q			O75914	PAK3_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 3	394	Protein kinase.				multicellular organismal development		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding			breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						ATTTCCTGCACTCAAACCAGG	0.313000										TSP Lung(19;0.15)			36	111					1.58521e-26	2.96619e-26	0.005524	1	0
NUDT17	200035	broad.mit.edu	37	1	145586916	145586916	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:145586916C>T	ENST00000334513.5	-	7	783	c.772G>A	c.(772-774)Gtc>Atc	p.V258I		NM_001012758.2	NP_001012776.1	P0C025	NUD17_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 17	258							hydrolase activity|metal ion binding			endometrium(3)|large_intestine(1)|lung(2)|skin(1)|urinary_tract(2)	9	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					ATGTGCAGGACCAGAGGTCGG	0.532000													52	68					0	0	0.003610	0	0
NR4A3	8013	broad.mit.edu	37	9	102595026	102595026	+	Missense_Mutation	SNP	T	T	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr9:102595026T>G	ENST00000330847.1	+	3	1084	c.1040T>G	c.(1039-1041)gTa>gGa	p.V347G	NR4A3_ENST00000338488.4_Missense_Mutation_p.V336G|NR4A3_ENST00000395097.2_Missense_Mutation_p.V336G			Q92570	NR4A3_HUMAN	nuclear receptor subfamily 4, group A, member 3	336					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor		steroid hormone receptor activity|thyroid hormone receptor activity|zinc ion binding		TCF12/NR4A3(2)|TAF15/NR4A3(33)|EWSR1/NR4A3(146)|TFG/NR4A3(2)				Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189)				AACTGCCCAGTAGACAAGAGA	0.373000			T	EWSR1	extraskeletal myxoid chondrosarcoma								49	22					0	0	0.003610	0	0
POU4F3	5459	broad.mit.edu	37	5	145720006	145720006	+	Silent	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr5:145720006G>A	ENST00000230732.4	+	2	1105	c.1016G>A	c.(1015-1017)tGa>tAa	p.*339*	CTC-359M8.1_ENST00000515598.1_RNA	NM_002700.2	NP_002691.1	Q15319	PO4F3_HUMAN	POU class 4 homeobox 3	0					sensory perception of sound|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GCTGTCCACTGATTGCGGCAG	0.562000													4	17					0	0	0.000602	0	0
LAMP2	3920	broad.mit.edu	37	X	119582867	119582867	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chrX:119582867G>C	ENST00000371335.4	-	4	650	c.514C>G	c.(514-516)Ctt>Gtt	p.L172V	LAMP2_ENST00000540603.1_Missense_Mutation_p.L125V|LAMP2_ENST00000538785.1_Missense_Mutation_p.L61V|LAMP2_ENST00000434600.2_Missense_Mutation_p.L172V|LAMP2_ENST00000200639.4_Missense_Mutation_p.L172V	NM_013995.2	NP_054701.1	P13473	LAMP2_HUMAN	lysosomal-associated membrane protein 2	172	First lumenal domain.				platelet activation|platelet degranulation	endosome membrane|integral to membrane|late endosome|lysosomal membrane|membrane fraction|plasma membrane|platelet dense granule membrane				endometrium(4)|large_intestine(2)|lung(5)|ovary(2)|urinary_tract(2)	15						GCTTGTACAAGAACATCCCAG	0.358000													25	67					0	0	0.007291	0	0
SLC5A2	6524	broad.mit.edu	37	16	31499727	31499727	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr16:31499727G>C	ENST00000330498.3	+	9	1064	c.1045G>C	c.(1045-1047)Gag>Cag	p.E349Q	AC026471.6_ENST00000565137.1_RNA	NM_003041.3	NP_003032.1	P31639	SC5A2_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 2	349					carbohydrate metabolic process	integral to membrane	low-affinity glucose:sodium symporter activity			endometrium(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	25						CGTGGTGCCTGAGGTGTGCAG	0.682000													7	12					0	0	0.000978	0	0
ABCG8	64241	broad.mit.edu	37	2	44079810	44079810	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr2:44079810C>T	ENST00000272286.2	+	6	857	c.767C>T	c.(766-768)tCc>tTc	p.S256F		NM_022437.2	NP_071882.1	Q9H221	ABCG8_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 8	256	ABC transporter.				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				AAGACCTTGTCCAGGCTGGCC	0.572000													41	25					0	0	0.006999	0	0
RPF2	84154	broad.mit.edu	37	6	111320934	111320934	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr6:111320934G>T	ENST00000441448.2	+	6	429	c.337G>T	c.(337-339)Gtg>Ttg	p.V113L		NM_032194.1	NP_115570.1	Q9H7B2	RPF2_HUMAN	ribosome production factor 2 homolog (S. cerevisiae)	113	Brix.					nucleolus	protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|ovary(2)	7						TGACTACCATGTGCTGGATAT	0.333000													16	60					5.3912e-06	6.28189e-06	0.006122	1	0
TTN	7273	broad.mit.edu	37	2	179408970	179408970	+	Missense_Mutation	SNP	A	A	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr2:179408970A>G	ENST00000589042.1	-	345	96210	c.95986T>C	c.(95986-95988)Tac>Cac	p.Y31996H	TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.Y22931H|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.Y23123H|TTN_ENST00000591111.1_Missense_Mutation_p.Y30355H|TTN_ENST00000342992.6_Missense_Mutation_p.Y29428H|TTN_ENST00000359218.5_Missense_Mutation_p.Y23056H|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	30355	Ig-like 142.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GATTCGCTGTATTCGCTCATA	0.403000													13	57					0	0	0.001368	0	0
PCDHGA6	56109	broad.mit.edu	37	5	140753848	140753848	+	Silent	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr5:140753848C>A	ENST00000517434.1	+	1	198	c.198C>A	c.(196-198)atC>atA	p.I66I	PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1												p.I66I(1)		breast(1)|large_intestine(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGTCCGCATCGTCTCCAGAG	0.592000													26	16					2.48779e-11	3.50249e-11	0.005443	1	0
DCAF8L1	139425	broad.mit.edu	37	X	27998524	27998524	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chrX:27998524C>A	ENST00000441525.1	-	1	1042	c.928G>T	c.(928-930)Gtt>Ttt	p.V310F		NM_001017930.1	NP_001017930.1	A6NGE4	DC8L1_HUMAN	DDB1 and CUL4 associated factor 8-like 1	310										NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						GTGAACACAACGGCATCTTCA	0.483000													13	24					0.00244969	0.00261741	0.002450	1	0
ZYG11B	79699	broad.mit.edu	37	1	53279551	53279551	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:53279551G>T	ENST00000294353.6	+	12	2058	c.1913G>T	c.(1912-1914)tGg>tTg	p.W638L	ZYG11B_ENST00000545132.1_3'UTR|ZYG11B_ENST00000443756.2_Missense_Mutation_p.W568L	NM_024646.2	NP_078922.1	Q9C0D3	ZY11B_HUMAN	zyg-11 family member B, cell cycle regulator	638							protein binding			breast(1)|endometrium(1)|kidney(6)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	30						ATTTTGAAATGGCCAACTCCA	0.353000													20	34					1.50039e-11	2.13076e-11	0.001882	1	0
ANK2	287	broad.mit.edu	37	4	114171000	114171000	+	Silent	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr4:114171000C>T	ENST00000357077.4	+	10	1025	c.972C>T	c.(970-972)ccC>ccT	p.P324P	ANK2_ENST00000394537.3_Silent_p.P324P|ANK2_ENST00000264366.6_Silent_p.P324P|ANK2_ENST00000506722.1_Silent_p.P303P	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	324					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		GGGGTGCCCCCTTGCTGGCAA	0.423000													8	9					0	0	0.004482	0	0
G6PC2	57818	broad.mit.edu	37	2	169764389	169764389	+	Silent	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr2:169764389C>T	ENST00000375363.3	+	5	960	c.868C>T	c.(868-870)Ctg>Ttg	p.L290L	G6PC2_ENST00000461586.1_3'UTR|SPC25_ENST00000472216.2_Intron	NM_021176.2	NP_066999.1	Q9NQR9	G6PC2_HUMAN	glucose-6-phosphatase, catalytic, 2	290					gluconeogenesis|glucose homeostasis|glucose transport|regulation of insulin secretion|transmembrane transport	endoplasmic reticulum membrane|integral to membrane	glucose-6-phosphatase activity			breast(1)|endometrium(1)|large_intestine(1)|lung(5)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	13						TAACTACACACTGAGCTTCCG	0.498000													15	94					0	0	0.002450	0	0
SLAMF1	6504	broad.mit.edu	37	1	160616732	160616732	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:160616732C>A	ENST00000302035.6	-	1	353	c.4G>T	c.(4-6)Gat>Tat	p.D2Y	SLAMF1_ENST00000494463.1_5'UTR|SLAMF1_ENST00000235739.5_Missense_Mutation_p.D2Y|SLAMF1_ENST00000355199.3_Missense_Mutation_p.D2Y|SLAMF1_ENST00000538290.1_Missense_Mutation_p.D2Y	NM_003037.2	NP_003028.1	Q13291	SLAF1_HUMAN	signaling lymphocytic activation molecule family member 1	2					interspecies interaction between organisms|lymphocyte activation|positive regulation of cell proliferation	integral to membrane	antigen binding|transmembrane receptor activity			breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(52;4.94e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			CCCTTGGGATCCATCAGCCAA	0.567000													4	16					0.00024832	0.000273693	0.009096	1	0
ZFPM2	23414	broad.mit.edu	37	8	106815547	106815547	+	Silent	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr8:106815547C>T	ENST00000407775.2	+	8	3487	c.3237C>T	c.(3235-3237)atC>atT	p.I1079I	RP11-152P17.2_ENST00000520594.1_RNA|RP11-152P17.2_ENST00000509144.2_RNA|RP11-152P17.2_ENST00000521622.1_RNA|ZFPM2_ENST00000517361.1_Silent_p.I947I|ZFPM2_ENST00000378472.4_Silent_p.I810I|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000518932.1_RNA|ZFPM2_ENST00000520492.1_Silent_p.I947I|RP11-152P17.2_ENST00000524045.2_RNA	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	1079					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			CCTCGTGGATCTCTGAGAACC	0.493000													7	17					0	0	0.001984	0	0
OR4S2	219431	broad.mit.edu	37	11	55418917	55418917	+	Missense_Mutation	SNP	C	C	G	rs140330182		TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr11:55418917C>G	ENST00000312422.2	+	1	538	c.538C>G	c.(538-540)Cac>Gac	p.H180D		NM_001004059.2	NP_001004059.2	Q8NH73	OR4S2_HUMAN	olfactory receptor, family 4, subfamily S, member 2	180					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(28)|ovary(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_epithelial(135;0.0748)				TTGTGATGTTCACCCTGTGTT	0.453000													50	120					0	0	0.003610	0	0
TCL1B	9623	broad.mit.edu	37	14	96152899	96152899	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr14:96152899G>T	ENST00000340722.7	+	1	146	c.95G>T	c.(94-96)tGg>tTg	p.W32L	RP11-1070N10.6_ENST00000461160.1_RNA	NM_004918.3	NP_004909.1	O95988	TCL1B_HUMAN	T-cell leukemia/lymphoma 1B	32										cervix(1)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		all_cancers(154;0.103)		COAD - Colon adenocarcinoma(157;0.205)|Epithelial(152;0.248)		GGGAGAACCTGGGTGACTGTG	0.647000													18	17					1.67942e-08	2.16114e-08	0.006122	1	0
OR13J1	392309	broad.mit.edu	37	9	35869736	35869736	+	Silent	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr9:35869736G>A	ENST00000377981.2	-	1	725	c.663C>T	c.(661-663)atC>atT	p.I221I		NM_001004487.1	NP_001004487.1	Q8NGT2	O13J1_HUMAN	olfactory receptor, family 13, subfamily J, member 1	221					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|large_intestine(1)|lung(3)|skin(1)	6	all_epithelial(49;0.169)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00494)|STAD - Stomach adenocarcinoma(86;0.194)			TGGTGGCCAGGATGAGCAAGT	0.617000													15	11					0	0	0.003163	0	0
KDM4A	9682	broad.mit.edu	37	1	44128655	44128655	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:44128655C>A	ENST00000372396.3	+	5	654	c.520C>A	c.(520-522)Cca>Aca	p.P174T	KDM4A_ENST00000463151.1_3'UTR	NM_014663.2	NP_055478.2	O75164	KDM4A_HUMAN	lysine (K)-specific demethylase 4A	174	JmjC.				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleolus	histone demethylase activity (H3-K36 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(13)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	37						TGTGAACACCCCATACCTGTA	0.493000													32	80					2.80507e-11	3.93784e-11	0.002445	1	0
MFSD7	84179	broad.mit.edu	37	4	675791	675791	+	Missense_Mutation	SNP	C	C	A	rs143423821	by1000genomes	TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr4:675791C>A	ENST00000322224.4	-	10	1949	c.1636G>T	c.(1636-1638)Gct>Tct	p.A546S	MFSD7_ENST00000515118.1_Missense_Mutation_p.A450S|MYL5_ENST00000505477.1_3'UTR|MFSD7_ENST00000404286.2_Missense_Mutation_p.A547S|MYL5_ENST00000506838.1_3'UTR|MFSD7_ENST00000347950.5_Missense_Mutation_p.A428S|MFSD7_ENST00000503156.1_3'UTR|MYL5_ENST00000400159.2_3'UTR|MYL5_ENST00000511290.1_3'UTR			Q6UXD7	MFSD7_HUMAN	major facilitator superfamily domain containing 7	547					transmembrane transport	integral to membrane				cervix(1)|kidney(2)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	11						TGAGACCCAGCCGGGTCAATA	0.662000													6	13					2.7689e-08	3.54448e-08	0.001984	1	0
TAOK2	9344	broad.mit.edu	37	16	29996620	29996620	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr16:29996620G>T	ENST00000308893.4	+	14	2552	c.1509G>T	c.(1507-1509)caG>caT	p.Q503H	TAOK2_ENST00000543033.1_Missense_Mutation_p.Q503H|TAOK2_ENST00000416441.2_Missense_Mutation_p.Q330H|TAOK2_ENST00000279394.3_Missense_Mutation_p.Q503H	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	503					actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						GACAGCACCAGAAGCAGCTGC	0.662000													17	44					3.45872e-05	3.94552e-05	0.004007	1	0
ZNF536	9745	broad.mit.edu	37	19	30934697	30934697	+	Silent	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr19:30934697C>A	ENST00000355537.3	+	2	375	c.228C>A	c.(226-228)ccC>ccA	p.P76P		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	76					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					GCGGCCAGCCCATGGGCAGTC	0.682000													9	23					0.00448238	0.0047375	0.004482	1	0
ZNF335	63925	broad.mit.edu	37	20	44578493	44578493	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr20:44578493C>G	ENST00000322927.2	-	24	3715	c.3615G>C	c.(3613-3615)gaG>gaC	p.E1205D	ZNF335_ENST00000426788.1_Missense_Mutation_p.E1050D	NM_022095.3	NP_071378.1	Q9H4Z2	ZN335_HUMAN	zinc finger protein 335	1205	Gln-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	51		Myeloproliferative disorder(115;0.0122)				CCGTGGTGATCTCTTGGATGT	0.597000													37	38					0	0	0.005524	0	0
PCDHB13	56123	broad.mit.edu	37	5	140595266	140595266	+	Missense_Mutation	SNP	T	T	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr5:140595266T>C	ENST00000341948.4	+	1	1758	c.1571T>C	c.(1570-1572)cTg>cCg	p.L524P		NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN		524	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TACGAGGCCCTGCAGGGGTTC	0.692000													31	52					0	0	0.003755	0	0
PRKD1	5587	broad.mit.edu	37	14	30068940	30068940	+	Missense_Mutation	SNP	A	A	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr14:30068940A>T	ENST00000331968.5	-	14	2218	c.1989T>A	c.(1987-1989)caT>caA	p.H663Q	PRKD1_ENST00000415220.2_Missense_Mutation_p.H671Q	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1	663	Protein kinase.				cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		GCATGTCTCCATGGAGTTTTT	0.378000													13	113					0	0	0.002450	0	0
GABRR2	2570	broad.mit.edu	37	6	89975382	89975382	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr6:89975382C>A	ENST00000402938.3	-	7	972	c.839G>T	c.(838-840)tGg>tTg	p.W280L	GABRR2_ENST00000602399.1_Missense_Mutation_p.W305L			P28476	GBRR2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 2	305					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(10)|prostate(2)|urinary_tract(1)	21		all_cancers(76;1.67e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.77e-07)|all_epithelial(107;2.51e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0158)		GAAGGACACCCAGGACAGCAT	0.468000													16	32					0.000566183	0.00061892	0.004990	1	0
SLC25A48	153328	broad.mit.edu	37	5	135207338	135207338	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr5:135207338G>C	ENST00000274513.5	+	5	782	c.610G>C	c.(610-612)Gag>Cag	p.E204Q	SLC25A48_ENST00000420621.1_Missense_Mutation_p.E204Q|SLC25A48_ENST00000412661.2_Intron|SLC25A48_ENST00000433282.2_Missense_Mutation_p.E150Q|SLC25A48_ENST00000425402.1_Intron			Q6ZT89	S2548_HUMAN	solute carrier family 25, member 48	204					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	10						GTTCCTGAGTGAGTGGATCAC	0.662000													6	22					0	0	0.001168	0	0
ROS1	6098	broad.mit.edu	37	6	117622204	117622204	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr6:117622204G>C	ENST00000368508.3	-	42	6864	c.6666C>G	c.(6664-6666)ttC>ttG	p.F2222L	ROS1_ENST00000368507.3_Missense_Mutation_p.F2216L	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase	2222	Protein kinase.				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		TGCTATTTAAGAAAAAATTTC	0.353000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""								27	42					0	0	0.006320	0	0
SPACA1	81833	broad.mit.edu	37	6	88773917	88773917	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr6:88773917G>T	ENST00000237201.1	+	6	828	c.711G>T	c.(709-711)ttG>ttT	p.L237F	SPACA1_ENST00000462690.1_Intron	NM_030960.2	NP_112222.1	Q9HBV2	SACA1_HUMAN	sperm acrosome associated 1	237			L -> S (in dbSNP:rs2276089).			integral to membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	20		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.11)		TTTTCTTATTGATCTTCATAA	0.398000													19	41					5.35267e-07	6.5003e-07	0.007413	1	0
AGO4	192670	broad.mit.edu	37	1	36299636	36299636	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:36299636G>T	ENST00000373210.3	+	12	1670	c.1425G>T	c.(1423-1425)atG>atT	p.M475I		NM_017629.3	NP_060099.2			argonaute RISC catalytic component 4																		ATGCAGGAATGCCCATCCAGG	0.433000													20	44					5.35356e-11	7.4513e-11	0.002780	1	0
FREM1	158326	broad.mit.edu	37	9	14824823	14824823	+	Silent	SNP	A	A	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr9:14824823A>T	ENST00000380881.4	-	12	2867	c.2052T>A	c.(2050-2052)acT>acA	p.T684T	FREM1_ENST00000422223.2_Silent_p.T683T|FREM1_ENST00000380880.3_Silent_p.T683T			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	683					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		ATGGAGGAGTAGTTATTGTGT	0.383000													8	6					0	0	0.003080	0	0
ZFHX4	79776	broad.mit.edu	37	8	77617213	77617213	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr8:77617213C>A	ENST00000521891.2	+	2	1338	c.890C>A	c.(889-891)gCt>gAt	p.A297D	ZFHX4_ENST00000455469.2_Missense_Mutation_p.A297D|ZFHX4_ENST00000518282.1_Missense_Mutation_p.A297D|ZFHX4_ENST00000050961.6_Missense_Mutation_p.A297D|ZFHX4_ENST00000517683.1_Intron	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	297						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			GTAACCCATGCTGTGCATGAT	0.423000										HNSCC(33;0.089)			20	53					1.55795e-14	2.4058e-14	0.001882	1	0
LRRC16A	55604	broad.mit.edu	37	6	25581506	25581506	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr6:25581506G>T	ENST00000329474.6	+	31	3213	c.2845G>T	c.(2845-2847)Gta>Tta	p.V949L		NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	Q5VZK9	LR16A_HUMAN	leucine rich repeat containing 16A	949					actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process	cytosol|lamellipodium|nucleus				breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						GCTGGAAGAGGTACCAATTCA	0.443000													34	14					4.62619e-21	8.1472e-21	0.004289	1	0
TMEM68	137695	broad.mit.edu	37	8	56675442	56675442	+	Missense_Mutation	SNP	T	T	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr8:56675442T>C	ENST00000434581.2	-	3	276	c.77A>G	c.(76-78)gAa>gGa	p.E26G	TMEM68_ENST00000334667.2_Missense_Mutation_p.E26G|TMEM68_ENST00000523073.1_Intron|TMEM68_ENST00000522576.1_Missense_Mutation_p.E26G|TMEM68_ENST00000519784.1_Intron|TMEM68_ENST00000521229.1_Missense_Mutation_p.E26G			Q96MH6	TMM68_HUMAN	transmembrane protein 68	26						integral to membrane	acyltransferase activity			NS(1)|kidney(1)|lung(2)|ovary(1)|skin(1)	6			Epithelial(17;0.000361)|all cancers(17;0.00326)			AAACCATTCTTCGAGTATGTG	0.358000													88	216					0	0	0.003610	0	0
MAGI1	9223	broad.mit.edu	37	3	65347012	65347012	+	Splice_Site	SNP	T	T	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr3:65347012T>C	ENST00000330909.8	-	23	3579	c.3579_splice	c.e23-1	p.I1194_splice	MAGI1_ENST00000402939.2_Splice_Site_p.I1166_splice|MAGI1_ENST00000483466.1_Splice_Site_p.I1195_splice|MAGI1_ENST00000497477.2_Splice_Site_p.I1099_splice	NM_015520.1	NP_056335.1	Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	1195	PDZ 6.				cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		TCATCACCAATCTGCCAAAGC	0.393000													16	38					0	0	0.003163	0	0
ZNF607	84775	broad.mit.edu	37	19	38189824	38189824	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr19:38189824C>A	ENST00000355202.4	-	5	1803	c.1208G>T	c.(1207-1209)aGg>aTg	p.R403M	CTD-2528L19.4_ENST00000586606.2_Intron|ZNF607_ENST00000395835.3_Missense_Mutation_p.R402M	NM_032689.4	NP_116078.4	Q96SK3	ZN607_HUMAN	zinc finger protein 607	403					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|lung(8)|urinary_tract(1)	27			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)			TGAATTGAGCCTAAAGGACTT	0.423000													26	59					8.24728e-16	1.31651e-15	0.004656	1	0
ARHGAP30	257106	broad.mit.edu	37	1	161024251	161024251	+	Silent	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:161024251G>A	ENST00000368013.3	-	5	761	c.441C>T	c.(439-441)ttC>ttT	p.F147F	ARHGAP30_ENST00000368015.1_Intron|ARHGAP30_ENST00000368016.3_Silent_p.F147F	NM_001025598.1|NM_181720.2	NP_001020769.1|NP_859071.2	Q7Z6I6	RHG30_HUMAN	Rho GTPase activating protein 30	147	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			GCCTCATGAGGAACTCCAGGG	0.602000													3	17					0	0	0.004672	0	0
RANBP9	10048	broad.mit.edu	37	6	13697085	13697085	+	Silent	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr6:13697085C>T	ENST00000011619.3	-	2	673	c.615G>A	c.(613-615)acG>acA	p.T205T		NM_005493.2	NP_005484.2	Q96S59	RANB9_HUMAN	RAN binding protein 9	205	B30.2/SPRY.				axon guidance|microtubule nucleation|protein complex assembly	cytosol|microtubule associated complex|nucleus	Ran GTPase binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	16	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.117)	Epithelial(50;0.223)			GTATTGGATGCGTGGCTCGAA	0.403000													18	411					0	0	0.010504	0	0
FABP1	2168	broad.mit.edu	37	2	88425740	88425740	+	Silent	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr2:88425740C>T	ENST00000393750.3	-	2	226	c.195G>A	c.(193-195)gtG>gtA	p.V65V	FABP1_ENST00000495375.1_5'UTR|FABP1_ENST00000295834.3_Silent_p.V65V			P07148	FABPL_HUMAN	fatty acid binding protein 1, liver	65					organ morphogenesis					kidney(1)|large_intestine(1)|lung(2)|prostate(1)|stomach(1)	6						ATTCCTCCCCCACCGTGAATT	0.532000													80	205					0	0	0.003610	0	0
HCN1	348980	broad.mit.edu	37	5	45262657	45262657	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr5:45262657G>C	ENST00000303230.4	-	8	2096	c.2039C>G	c.(2038-2040)tCc>tGc	p.S680C		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	680						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						GGGACTGGGGGAGTGCAGGTT	0.622000													38	25					0	0	0.004878	0	0
ZNF536	9745	broad.mit.edu	37	19	30936096	30936096	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr19:30936096C>G	ENST00000355537.3	+	2	1774	c.1627C>G	c.(1627-1629)Ccg>Gcg	p.P543A		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	543					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					TAAAGAGCATCCGCTGCAGCG	0.572000													26	49					0	0	0.003330	0	0
COL4A5	1287	broad.mit.edu	37	X	107821200	107821200	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chrX:107821200G>T	ENST00000328300.6	+	11	872	c.628G>T	c.(628-630)Gga>Tga	p.G210*	COL4A5_ENST00000361603.2_Nonsense_Mutation_p.G210*	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	210	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						TGGTCCACCAGGACTTCCAGG	0.308000									Alport syndrome with Diffuse Leiomyomatosis				6	19					5.9392e-07	7.18286e-07	0.001168	1	0
LRRIQ1	84125	broad.mit.edu	37	12	85521787	85521787	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr12:85521787G>T	ENST00000393217.2	+	18	4246	c.4185G>T	c.(4183-4185)agG>agT	p.R1395S		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	1395	IQ 3.									breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		GAAAACAGAGGGAGAAGGCTG	0.308000													18	57					8.10497e-08	1.0206e-07	0.010504	1	0
MAGEB4	4115	broad.mit.edu	37	X	30260473	30260473	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chrX:30260473C>T	ENST00000378982.2	+	1	417	c.221C>T	c.(220-222)gCt>gTt	p.A74V		NM_002367.3	NP_002358.1	O15481	MAGB4_HUMAN	melanoma antigen family B, 4	74										breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27						GCTGCTGCAGCTATGTCATGC	0.522000													7	28					0	0	0.003080	0	0
MAGEC1	9947	broad.mit.edu	37	X	140995862	140995862	+	Nonsense_Mutation	SNP	T	T	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chrX:140995862T>A	ENST00000285879.4	+	4	2958	c.2672T>A	c.(2671-2673)tTg>tAg	p.L891*	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	891							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					AGTGATTCCTTGACAGACAGC	0.473000										HNSCC(15;0.026)			52	131					0	0	0.003610	0	0
OR4M2	390538	broad.mit.edu	37	15	22368785	22368785	+	Silent	SNP	T	T	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr15:22368785T>C	ENST00000332663.2	+	1	308	c.210T>C	c.(208-210)gaT>gaC	p.D70D	RP11-69H14.6_ENST00000558896.1_RNA	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M, member 2	70					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		CCTTCCTTGATATTTGGTACT	0.418000													35	164					0	0	0.004878	0	0
ADAMTSL3	57188	broad.mit.edu	37	15	84659891	84659891	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr15:84659891C>A	ENST00000286744.5	+	23	4122	c.3898C>A	c.(3898-3900)Cat>Aat	p.H1300N	ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.H1300N	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	1300	Ig-like C2-type 3.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			AGAGCACAACCATCTGTCTGT	0.468000													52	115					2.0833e-19	3.5745e-19	0.003610	1	0
DRD5	1816	broad.mit.edu	37	4	9783943	9783943	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr4:9783943G>T	ENST00000304374.2	+	1	686	c.290G>T	c.(289-291)tGg>tTg	p.W97L		NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN	dopamine receptor D5	97					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane				NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)	GTCATGCCCTGGAAGGCAGTC	0.627000													14	36					6.31663e-08	7.98835e-08	0.003163	1	0
RNF183	138065	broad.mit.edu	37	9	116060189	116060189	+	Silent	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr9:116060189G>A	ENST00000478815.1	-	1	1856	c.276C>T	c.(274-276)atC>atT	p.I92I	RNF183_ENST00000297894.5_Silent_p.I92I|RNF183_ENST00000441031.3_Silent_p.I92I|RNF183_ENST00000416588.2_Silent_p.I92I			Q96D59	RN183_HUMAN	ring finger protein 183	92						integral to membrane	zinc ion binding			lung(1)|prostate(1)|skin(1)	3						GGCCTTCCAGGATGACATGGT	0.662000													26	13					0	0	0.005443	0	0
CACNB2	783	broad.mit.edu	37	10	18825057	18825057	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr10:18825057G>A	ENST00000396576.2	+	11	1570	c.1069G>A	c.(1069-1071)Ggg>Agg	p.G357R	CACNB2_ENST00000352115.6_Missense_Mutation_p.G388R|CACNB2_ENST00000377331.2_Missense_Mutation_p.G360R|CACNB2_ENST00000377329.4_Missense_Mutation_p.G358R|CACNB2_ENST00000377315.4_Missense_Mutation_p.G364R|CACNB2_ENST00000377328.1_Missense_Mutation_p.G162R|CACNB2_ENST00000324631.7_Missense_Mutation_p.G412R|CACNB2_ENST00000282343.8_Missense_Mutation_p.G384R|CACNB2_ENST00000377319.3_Missense_Mutation_p.G319R|RP11-499P20.2_ENST00000425669.1_RNA	NM_000724.3	NP_000715.2	Q08289	CACB2_HUMAN	calcium channel, voltage-dependent, beta 2 subunit	412					axon guidance|neuromuscular junction development	integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2)	31					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	AAAATCTCGAGGGAAATCTCA	0.368000													8	15					0	0	0.004482	0	0
DIAPH2	1730	broad.mit.edu	37	X	95993694	95993694	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chrX:95993694C>T	ENST00000324765.8	+	3	622	c.275C>T	c.(274-276)cCa>cTa	p.P92L	DIAPH2_ENST00000373049.4_Missense_Mutation_p.P92L|DIAPH2_ENST00000355827.4_Missense_Mutation_p.P92L|DIAPH2_ENST00000373061.3_Missense_Mutation_p.P92L|DIAPH2_ENST00000373054.4_Missense_Mutation_p.P81L			O60879	DIAP2_HUMAN	diaphanous-related formin 2	92					cell differentiation|cytokinesis|multicellular organismal development|oogenesis	cytosol|early endosome|Golgi apparatus|mitochondrion|nucleolus	receptor binding|Rho GTPase binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51						GCAGCTCAGCCATTATATGAT	0.318000													14	46					0	0	0.001855	0	0
ANK2	287	broad.mit.edu	37	4	114286205	114286205	+	Silent	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr4:114286205C>A	ENST00000357077.4	+	41	10952	c.10899C>A	c.(10897-10899)ctC>ctA	p.L3633L	ANK2_ENST00000394537.3_Silent_p.L1548L|ANK2_ENST00000509550.1_Silent_p.L724L|ANK2_ENST00000264366.6_Silent_p.L3600L|ANK2_ENST00000506722.1_Silent_p.L1539L|ANK2_ENST00000510275.2_Silent_p.L200L	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	3600					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		ATACCAACCTCGTTGAATGTC	0.388000													22	53					1.77063e-15	2.78704e-15	0.005443	1	0
PCMTD1	115294	broad.mit.edu	37	8	52733210	52733210	+	Missense_Mutation	SNP	T	T	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr8:52733210T>G	ENST00000360540.5	-	7	1181	c.775A>C	c.(775-777)Ata>Cta	p.I259L	PCMTD1_ENST00000544451.1_Missense_Mutation_p.I183L|PCMTD1_ENST00000522514.1_Missense_Mutation_p.I259L|PCMTD1_ENST00000519559.1_5'UTR	NM_052937.2	NP_443169.2	Q96MG8	PCMD1_HUMAN	protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1	259						cytoplasm	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity			NS(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(17)|prostate(2)|skin(8)|soft_tissue(1)	37		Lung NSC(129;0.0795)|all_lung(136;0.144)				TCATCATTTATGAAATTTCTA	0.403000													10	114					0	0	0.001368	0	0
TARS	6897	broad.mit.edu	37	5	33456123	33456123	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr5:33456123G>T	ENST00000265112.3	+	7	1021	c.710G>T	c.(709-711)tGc>tTc	p.C237F	TARS_ENST00000541634.1_Missense_Mutation_p.C133F|TARS_ENST00000502553.1_Missense_Mutation_p.C237F|TARS_ENST00000414361.2_Missense_Mutation_p.C116F|TARS_ENST00000455217.2_Missense_Mutation_p.C270F	NM_152295.4	NP_689508.3	P26639	SYTC_HUMAN	threonyl-tRNA synthetase	237					threonyl-tRNA aminoacylation	cytosol	ATP binding|protein homodimerization activity|threonine-tRNA ligase activity			NS(1)|biliary_tract(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)	29					L-Threonine(DB00156)	AAGTTCAAATGCCGGATATTG	0.294000													10	40					3.86212e-05	4.3717e-05	0.008291	1	0
GPC4	2239	broad.mit.edu	37	X	132548940	132548940	+	Silent	SNP	G	G	T	rs150450966	byFrequency	TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chrX:132548940G>T	ENST00000370828.3	-	1	578	c.54C>A	c.(52-54)gcC>gcA	p.A18A		NM_001448.2	NP_001439.2	O75487	GPC4_HUMAN	glypican 4	18					anatomical structure morphogenesis|cell proliferation	anchored to membrane|external side of plasma membrane|extracellular space|insoluble fraction|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;0.000127)					CCAGCAGCGCGGCGCTGAGCA	0.647000													11	22					3.07112e-06	3.60426e-06	0.000978	1	0
RPS6KC1	26750	broad.mit.edu	37	1	213415634	213415634	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:213415634G>C	ENST00000366960.3	+	11	2965	c.2815G>C	c.(2815-2817)Gat>Cat	p.D939H	RPS6KC1_ENST00000490299.1_3'UTR|RPS6KC1_ENST00000366959.3_Missense_Mutation_p.D927H|RPS6KC1_ENST00000543470.1_Missense_Mutation_p.D727H|RPS6KC1_ENST00000543354.1_Missense_Mutation_p.D642H	NM_012424.3	NP_036556.2	Q96S38	KS6C1_HUMAN	ribosomal protein S6 kinase, 52kDa, polypeptide 1	939	Protein kinase 2.				cell communication|signal transduction	early endosome|membrane	ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity			breast(1)|endometrium(6)|kidney(4)|large_intestine(8)|liver(2)|lung(15)|ovary(3)|prostate(1)|urinary_tract(3)	43				OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)		CTTATTGAATGATAGAGGTCA	0.388000													31	82					0	0	0.003755	0	0
LRRCC1	85444	broad.mit.edu	37	8	86048158	86048158	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr8:86048158G>T	ENST00000414626.2	+	13	3118	c.2229G>T	c.(2227-2229)agG>agT	p.R743S	LRRCC1_ENST00000360375.3_Missense_Mutation_p.R763S			Q9C099	LRCC1_HUMAN	leucine rich repeat and coiled-coil centrosomal protein 1	763					cell division|mitosis	centriole|nucleus				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						TTGGTTTAAGGACAGAAAGAA	0.368000													13	40					1.35283e-19	2.32661e-19	0.004007	1	0
ADAMTS20	80070	broad.mit.edu	37	12	43945646	43945646	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr12:43945646G>C	ENST00000389420.3	-	1	78	c.79C>G	c.(79-81)Cac>Gac	p.H27D	ADAMTS20_ENST00000553158.1_Missense_Mutation_p.H27D	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	27						proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		TGCCTGGGGTGGAAGTCAACT	0.647000													33	38					0	0	0.002836	0	0
TMEM187	8269	broad.mit.edu	37	X	153247610	153247610	+	Missense_Mutation	SNP	G	G	A	rs139864308	byFrequency	TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chrX:153247610G>A	ENST00000369982.4	+	2	844	c.97G>A	c.(97-99)Gtg>Atg	p.V33M		NM_003492.2	NP_003483.1	Q14656	TM187_HUMAN	transmembrane protein 187	33						integral to membrane|transport vesicle				breast(1)|large_intestine(1)|lung(1)|prostate(2)	5	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CAGTGTTTCCGTGCAAGTGGG	0.637000													20	58					0	0	0.002780	0	0
UNC79	57578	broad.mit.edu	37	14	94044226	94044226	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr14:94044226C>A	ENST00000553484.1	+	18	2404	c.2250C>A	c.(2248-2250)caC>caA	p.H750Q	UNC79_ENST00000256339.4_Missense_Mutation_p.H573Q|UNC79_ENST00000393151.2_Missense_Mutation_p.H750Q|UNC79_ENST00000555664.1_Missense_Mutation_p.H750Q			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	750						integral to membrane				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						GAGTTCAGCACAATATGCTTA	0.453000													24	103					1.55469e-16	2.51182e-16	0.003330	1	0
ACBD4	79777	broad.mit.edu	37	17	43213951	43213951	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr17:43213951G>T	ENST00000431281.1	+	5	642	c.173G>T	c.(172-174)cGg>cTg	p.R58L	ACBD4_ENST00000592162.1_Missense_Mutation_p.R58L|ACBD4_ENST00000591859.1_Missense_Mutation_p.R58L|ACBD4_ENST00000591136.1_3'UTR|ACBD4_ENST00000586346.1_Missense_Mutation_p.R58L|ACBD4_ENST00000376955.4_Missense_Mutation_p.R58L|ACBD4_ENST00000321854.8_Missense_Mutation_p.R58L|ACBD4_ENST00000398322.3_Missense_Mutation_p.R58L	NM_001135704.1	NP_001129176.1	Q8NC06	ACBD4_HUMAN	acyl-CoA binding domain containing 4	58	ACB.						fatty-acyl-CoA binding			kidney(1)|lung(3)|ovary(1)	5						CTGGTCCCCCGGCCCGGGTTC	0.607000													23	87					3.85864e-22	6.88641e-22	0.002780	1	0
ZBTB21	49854	broad.mit.edu	37	21	43412359	43412359	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr21:43412359C>T	ENST00000310826.5	-	3	2029	c.1846G>A	c.(1846-1848)Gaa>Aaa	p.E616K	ZBTB21_ENST00000465968.1_Intron|ZBTB21_ENST00000398499.1_Missense_Mutation_p.E616K|ZBTB21_ENST00000398511.3_Missense_Mutation_p.E616K|ZBTB21_ENST00000398505.3_Intron	NM_001098402.1	NP_001091872.1			zinc finger and BTB domain containing 21																		TGGAATTTTTCATCCAAAACA	0.453000													20	56					0	0	0.010504	0	0
ALKBH3	221120	broad.mit.edu	37	11	43908168	43908168	+	Silent	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr11:43908168G>T	ENST00000302708.4	+	5	642	c.231G>T	c.(229-231)gtG>gtT	p.V77V	ALKBH3_ENST00000532410.1_3'UTR|ALKBH3_ENST00000378840.4_Silent_p.V76V	NM_139178.3	NP_631917.1	Q96Q83	ALKB3_HUMAN	alkB, alkylation repair homolog 3 (E. coli)	77					DNA dealkylation involved in DNA repair|oxidative single-stranded DNA demethylation	mitochondrion|nucleoplasm	damaged DNA binding|DNA-N1-methyladenine dioxygenase activity|ferrous iron binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			endometrium(2)|kidney(1)|lung(4)|prostate(1)	8					Vitamin C(DB00126)	GAGAGGGTGTGTATGAAATCA	0.388000								Direct reversal of damage					6	36					1.12685e-05	1.30267e-05	0.004482	1	0
BCAP31	10134	broad.mit.edu	37	X	152981071	152981071	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chrX:152981071C>T	ENST00000458587.2	-	4	897	c.468G>A	c.(466-468)atG>atA	p.M156I	BCAP31_ENST00000345046.6_Missense_Mutation_p.M89I|BCAP31_ENST00000441714.1_Missense_Mutation_p.M89I|BCAP31_ENST00000477175.1_5'UTR	NM_001139441.1|NM_001139457.2	NP_001132913.1|NP_001132929.1	P51572	BAP31_HUMAN	B-cell receptor-associated protein 31	89					cellular component disassembly involved in apoptosis|immune response|intracellular protein transport|vesicle-mediated transport	cytosol|endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|integral to plasma membrane	receptor binding			endometrium(2)|large_intestine(2)|lung(2)|prostate(1)	7	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GGAAGTGCTCCATGGCCCCGG	0.552000													26	56					0	0	0.003330	0	0
ITGA10	8515	broad.mit.edu	37	1	145532463	145532463	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:145532463G>T	ENST00000369304.3	+	9	1091	c.916G>T	c.(916-918)Ggt>Tgt	p.G306C	ITGA10_ENST00000538811.1_Missense_Mutation_p.G175C|ITGA10_ENST00000539363.1_Missense_Mutation_p.G163C|ITGA10_ENST00000481236.1_3'UTR	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN	integrin, alpha 10	306	VWFA.				cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity			NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TTAGGTCCTTGGTCACTACCT	0.458000													16	49					3.32936e-07	4.07354e-07	0.006122	1	0
KRTAP21-2	337978	broad.mit.edu	37	21	32119357	32119357	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr21:32119357G>T	ENST00000333892.2	-	1	194	c.164C>A	c.(163-165)tCt>tAt	p.S55Y		NM_181617.1	NP_853648.1	Q3LI59	KR212_HUMAN	keratin associated protein 21-2	55						intermediate filament				lung(4)|skin(2)|upper_aerodigestive_tract(1)	7						tccacagccagagccgtatcc	0.517000													15	37					2.35188e-11	3.31751e-11	0.006122	1	0
CSPP1	79848	broad.mit.edu	37	8	68049768	68049768	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr8:68049768G>T	ENST00000262210.5	+	15	1921	c.1890G>T	c.(1888-1890)atG>atT	p.M630I	CSPP1_ENST00000412460.1_Missense_Mutation_p.M336I	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	centrosome and spindle pole associated protein 1	665						centrosome|microtubule|spindle				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)			AAGCTGAAATGAGAACATATA	0.353000													11	11					0.000151284	0.000168005	0.001855	1	0
CTSF	8722	broad.mit.edu	37	11	66335023	66335023	+	Silent	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr11:66335023G>A	ENST00000310325.5	-	3	532	c.423C>T	c.(421-423)ttC>ttT	p.F141F	CTSF_ENST00000533168.1_5'UTR	NM_003793.3	NP_003784.2	Q9UBX1	CATF_HUMAN	cathepsin F	141					proteolysis	lysosome	cysteine-type endopeptidase activity			endometrium(1)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	19						AGCCCTGAGTGAAGGCTGACT	0.547000													27	81					0	0	0.006320	0	0
FAM173B	134145	broad.mit.edu	37	5	10227603	10227603	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr5:10227603C>A	ENST00000280330.8	-	6	766	c.160G>T	c.(160-162)Gaa>Taa	p.E54*	FAM173B_ENST00000511437.1_Nonsense_Mutation_p.E218*|FAM173B_ENST00000510047.1_Nonsense_Mutation_p.E201*			Q6P4H8	F173B_HUMAN	family with sequence similarity 173, member B	218						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	16						GGCCTCTTTTCACGGCCTCTA	0.493000													29	43					4.31634e-10	5.85219e-10	0.002445	1	0
ZNF81	347344	broad.mit.edu	37	X	47755298	47755298	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chrX:47755298C>A	ENST00000376954.1	+	5	604	c.236C>A	c.(235-237)cCa>cAa	p.P79Q	ZNF81_ENST00000338637.7_Missense_Mutation_p.P79Q			P51508	ZNF81_HUMAN	zinc finger protein 81	79	KRAB.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|large_intestine(1)|lung(1)|skin(1)	4		all_lung(315;0.0973)				GGAGAGGGGCCATGGACATTG	0.493000													7	16					1.67772e-17	2.77164e-17	0.000978	1	0
PCDH11X	27328	broad.mit.edu	37	X	91090671	91090671	+	Silent	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chrX:91090671C>A	ENST00000373094.1	+	1	1013	c.168C>A	c.(166-168)tcC>tcA	p.S56S	PCDH11X_ENST00000504220.1_Silent_p.S56S|PCDH11X_ENST00000361724.1_Silent_p.S56S|PCDH11X_ENST00000373097.1_Silent_p.S56S|PCDH11X_ENST00000361655.2_Silent_p.S56S|PCDH11X_ENST00000395337.2_Silent_p.S56S|PCDH11X_ENST00000373088.1_Silent_p.S56S|PCDH11X_ENST00000406881.1_Silent_p.S56S|PCDH11X_ENST00000298274.8_Silent_p.S56S	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	56	Cadherin 1.				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						CAAACAAGTCCTTGACAACTG	0.463000													26	47					3.28513e-13	4.86305e-13	0.003954	1	0
SLC44A5	204962	broad.mit.edu	37	1	75740677	75740677	+	Missense_Mutation	SNP	C	C	A	rs143283722		TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:75740677C>A	ENST00000370855.5	-	6	339	c.226G>T	c.(226-228)Ggc>Tgc	p.G76C	SLC44A5_ENST00000535611.1_Intron|SLC44A5_ENST00000370859.3_Missense_Mutation_p.G76C|SLC44A5_ENST00000469525.1_5'UTR	NM_152697.4	NP_689910.2	Q8NCS7	CTL5_HUMAN	solute carrier family 44, member 5	76						integral to membrane|plasma membrane	choline transmembrane transporter activity			kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						CAAAAGTGGCCCTGGCTGTCT	0.478000													10	6					4.68919e-08	5.95073e-08	0.008291	1	0
NRCAM	4897	broad.mit.edu	37	7	107836209	107836209	+	Missense_Mutation	SNP	C	C	G	rs138146461	by1000genomes	TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr7:107836209C>G	ENST00000379028.3	-	15	1929	c.1459G>C	c.(1459-1461)Gag>Cag	p.E487Q	NRCAM_ENST00000413765.2_Missense_Mutation_p.E468Q|NRCAM_ENST00000379024.4_Missense_Mutation_p.E468Q|NRCAM_ENST00000379022.4_Missense_Mutation_p.E487Q|NRCAM_ENST00000425651.2_Missense_Mutation_p.E487Q|NRCAM_ENST00000351718.4_Missense_Mutation_p.E481Q			Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	487	Ig-like 5.			E -> Q (in Ref. 8; CAA04507).	angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly	external side of plasma membrane|integral to plasma membrane	ankyrin binding			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						ACTTACCACTCGATGGTTGGG	0.418000													4	15					0	0	0.009096	0	0
GLUD2	2747	broad.mit.edu	37	X	120183091	120183091	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chrX:120183091C>A	ENST00000328078.1	+	1	1630	c.1553C>A	c.(1552-1554)gCc>gAc	p.A518D		NM_012084.3	NP_036216.2	P49448	DHE4_HUMAN	glutamate dehydrogenase 2	518					glutamate biosynthetic process|glutamate catabolic process	mitochondrial matrix	ADP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|leucine binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|urinary_tract(1)	38					L-Glutamic Acid(DB00142)|NADH(DB00157)	GAGCGTTCTGCCAGGCAAATT	0.463000													24	49					7.4402e-23	1.33759e-22	0.003954	1	0
PRICKLE3	4007	broad.mit.edu	37	X	49033386	49033386	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chrX:49033386G>T	ENST00000376317.3	-	8	1215	c.1121C>A	c.(1120-1122)gCt>gAt	p.A374D	PRICKLE3_ENST00000538114.1_Intron|PRICKLE3_ENST00000540849.1_Missense_Mutation_p.A306D|PRICKLE3_ENST00000536904.1_Missense_Mutation_p.A293D	NM_006150.3	NP_006141.2	O43900	PRIC3_HUMAN	prickle homolog 3 (Drosophila)	374				Missing (in Ref. 5; AAB92357).			protein binding|zinc ion binding			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|skin(2)	22						CGGCCCTGGAGCTGTGGGCTC	0.677000													9	23					0.000274275	0.000301394	0.004482	1	0
ADAMTSL3	57188	broad.mit.edu	37	15	84582127	84582127	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr15:84582127G>T	ENST00000286744.5	+	16	2208	c.1984G>T	c.(1984-1986)Gga>Tga	p.G662*	ADAMTSL3_ENST00000567476.1_Nonsense_Mutation_p.G662*	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	662						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			AACATGCGTGGGAGGTATTTG	0.488000													13	13					4.3838e-07	5.34583e-07	0.001855	1	0
CSNK2A3	283106	broad.mit.edu	37	11	11373918	11373918	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr11:11373918C>A	ENST00000528848.2	-	1	986	c.749G>T	c.(748-750)gGg>gTg	p.G250V	GALNT18_ENST00000227756.4_Intron	NM_001256686.1	NP_001243615.1			casein kinase 2, alpha 3 polypeptide																		ATCTTCTGTCCCCAGAAACTT	0.418000													11	94					4.35082e-09	5.73463e-09	0.010504	1	0
STAG2	10735	broad.mit.edu	37	X	123191804	123191804	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chrX:123191804G>T	ENST00000371160.1	+	15	1683	c.1393G>T	c.(1393-1395)Gtt>Ttt	p.V465F	STAG2_ENST00000218089.9_Missense_Mutation_p.V465F|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000371145.3_Missense_Mutation_p.V465F|STAG2_ENST00000371144.3_Missense_Mutation_p.V465F|STAG2_ENST00000371157.3_Missense_Mutation_p.V465F|STAG2_ENST00000354548.5_Missense_Mutation_p.V396F			Q8N3U4	STAG2_HUMAN	stromal antigen 2	465					cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding	p.V465F(1)		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						TAAGACATTGGTTTTTTTCTT	0.348000													11	45					1.08611e-07	1.35949e-07	0.000978	1	0
GRM1	2911	broad.mit.edu	37	6	146480550	146480550	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr6:146480550C>A	ENST00000392299.2	+	3	1237	c.767C>A	c.(766-768)gCc>gAc	p.A256D	GRM1_ENST00000507907.1_Missense_Mutation_p.A256D|GRM1_ENST00000282753.1_Missense_Mutation_p.A256D|GRM1_ENST00000355289.4_Missense_Mutation_p.A256D|GRM1_ENST00000361719.2_Missense_Mutation_p.A256D|GRM1_ENST00000492807.2_Missense_Mutation_p.A256D			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	256					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	CTCTGTATCGCCCATTCTGAC	0.527000													17	24					2.94398e-08	3.76204e-08	0.007413	1	0
GRIK5	2901	broad.mit.edu	37	19	42510043	42510043	+	Missense_Mutation	SNP	T	T	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr19:42510043T>G	ENST00000262895.3	-	16	2094	c.2095A>C	c.(2095-2097)Agc>Cgc	p.S699R	GRIK5_ENST00000301218.4_Missense_Mutation_p.S699R|GRIK5_ENST00000593562.1_Missense_Mutation_p.S699R	NM_002088.4	NP_002079.3	Q16478	GRIK5_HUMAN	glutamate receptor, ionotropic, kainate 5	699						cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	35		Prostate(69;0.059)			L-Glutamic Acid(DB00142)	ACGAACACGCTGGGCTGCTTC	0.577000													6	10					0	0	0.001984	0	0
IGHV3OR16-8	388255	broad.mit.edu	37	16	33020907	33020907	+	RNA	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr16:33020907G>A	ENST00000565407.2	+	0	315				RP11-19N8.2_ENST00000567619.1_RNA																							TGAACAGCCTGAGAGCTGAGG	0.532000													59	214					0	0	0.003610	0	0
PRDM11	56981	broad.mit.edu	37	11	45204635	45204635	+	Silent	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr11:45204635C>T	ENST00000263765.4	+	5	798	c.549C>T	c.(547-549)atC>atT	p.I183I	PRDM11_ENST00000528980.1_3'UTR|PRDM11_ENST00000424263.2_Silent_p.I149I|PRDM11_ENST00000530656.1_Silent_p.I183I			Q9NQV5	PRD11_HUMAN	PR domain containing 11	183	SET.									endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	26						AGGGGCAGATCTCCACCCAGG	0.557000											OREG0020926	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	22					0	0	0.001855	0	0
MAGI3	260425	broad.mit.edu	37	1	114226374	114226374	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:114226374C>G	ENST00000307546.9	+	21	4259	c.4184C>G	c.(4183-4185)tCt>tGt	p.S1395C	MAGI3_ENST00000369615.1_3'UTR	NM_001142782.1	NP_001136254.1	Q5TCQ9	MAGI3_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 3	1420					apoptosis|interspecies interaction between organisms|intracellular signal transduction	nucleus|tight junction	ATP binding|guanylate kinase activity|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GAAACAAGTTCTAGTAACGAT	0.343000													5	5					0	0	0.000602	0	0
PCDH15	65217	broad.mit.edu	37	10	55587240	55587240	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr10:55587240G>T	ENST00000373965.2	-	33	4695	c.4301C>A	c.(4300-4302)cCg>cAg	p.P1434Q	PCDH15_ENST00000361849.3_Missense_Mutation_p.P1427Q|PCDH15_ENST00000414778.1_Missense_Mutation_p.P1429Q|PCDH15_ENST00000395432.2_Missense_Mutation_p.P1387Q|PCDH15_ENST00000437009.1_Missense_Mutation_p.P1356Q|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000320301.6_Missense_Mutation_p.P1427Q|PCDH15_ENST00000395438.1_Missense_Mutation_p.P1427Q|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000409834.1_Missense_Mutation_p.P1038Q|PCDH15_ENST00000395433.1_Missense_Mutation_p.P1402Q|PCDH15_ENST00000395430.1_Missense_Mutation_p.P1424Q|PCDH15_ENST00000395445.1_Missense_Mutation_p.P1434Q	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1427					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TGCAGGAGCCGGCACTGCTGG	0.572000										HNSCC(58;0.16)			16	40					4.14922e-12	5.96171e-12	0.004007	1	0
TNNT1	7138	broad.mit.edu	37	19	55653268	55653268	+	Nonsense_Mutation	SNP	A	A	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr19:55653268A>T	ENST00000588981.1	-	7	353	c.149T>A	c.(148-150)tTg>tAg	p.L50*	TNNT1_ENST00000587758.1_Nonsense_Mutation_p.L39*|TNNT1_ENST00000592920.1_5'UTR|TNNT1_ENST00000587465.2_5'UTR|TNNT1_ENST00000536926.1_Nonsense_Mutation_p.L39*|TNNT1_ENST00000588426.1_Intron|TNNT1_ENST00000291901.8_Nonsense_Mutation_p.L50*|TNNT1_ENST00000585321.2_5'UTR|TNNT1_ENST00000356783.5_Nonsense_Mutation_p.L39*	NM_003283.4	NP_003274.3	P13805	TNNT1_HUMAN	troponin T type 1 (skeletal, slow)	50					muscle filament sliding|negative regulation of muscle contraction	cytosol|troponin complex	tropomyosin binding			endometrium(2)|kidney(3)|lung(4)|ovary(1)	10			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.047)		TGGCGGGATCAAAGGAGGCAC	0.602000													42	61					0	0	0.003214	0	0
KIAA0556	23247	broad.mit.edu	37	16	27751537	27751537	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr16:27751537G>T	ENST00000261588.4	+	15	1938	c.1919G>T	c.(1918-1920)aGc>aTc	p.S640I		NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	640										breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						TCGGAAGAAAGCAAAGGCACC	0.562000													35	34					9.78485e-24	1.78315e-23	0.002836	1	0
LAMA1	284217	broad.mit.edu	37	18	7017304	7017304	+	Silent	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr18:7017304C>A	ENST00000389658.3	-	20	2874	c.2781G>T	c.(2779-2781)gtG>gtT	p.V927V		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	927	Laminin EGF-like 9.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GCTGTCCAGTCACGTTTGGTT	0.498000													7	45					0.00448238	0.0047375	0.004482	1	0
SERPINA12	145264	broad.mit.edu	37	14	94953696	94953696	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr14:94953696C>G	ENST00000341228.2	-	6	1984	c.1189G>C	c.(1189-1191)Gag>Cag	p.E397Q	SERPINA12_ENST00000556881.1_Missense_Mutation_p.E397Q	NM_173850.2	NP_776249.1	Q8IW75	SPA12_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12	397					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33				COAD - Colon adenocarcinoma(157;0.235)		GGTATTTTCTCGCTGTAAATC	0.522000													9	60					0	0	0.000978	0	0
LCT	3938	broad.mit.edu	37	2	136575089	136575089	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr2:136575089C>A	ENST00000264162.2	-	6	1539	c.1529G>T	c.(1528-1530)tGg>tTg	p.W510L		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	510	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		CTCATTCTGCCATCCACCATG	0.587000													14	36					3.27435e-08	4.16246e-08	0.002450	1	0
TTN	7273	broad.mit.edu	37	2	179463902	179463902	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr2:179463902C>A	ENST00000589042.1	-	290	56842	c.56618G>T	c.(56617-56619)aGt>aTt	p.S18873I	TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.S9808I|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.S10000I|TTN_ENST00000591111.1_Missense_Mutation_p.S17232I|TTN_ENST00000342992.6_Missense_Mutation_p.S16305I|TTN_ENST00000359218.5_Missense_Mutation_p.S9933I|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589234.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	17232	Ig-like 107.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTCAGGTTCACTGTCAAGAGG	0.358000													111	215					7.90946e-78	1.56588e-77	0.003610	1	0
CCDC86	79080	broad.mit.edu	37	11	60609861	60609861	+	Silent	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr11:60609861C>T	ENST00000227520.5	+	1	318	c.264C>T	c.(262-264)ggC>ggT	p.G88G	RP11-804A23.2_ENST00000539897.1_RNA|RP11-804A23.4_ENST00000538705.1_RNA	NM_024098.3	NP_077003.1	Q9H6F5	CCD86_HUMAN	coiled-coil domain containing 86	88	Pro-rich.				interspecies interaction between organisms	nucleus				endometrium(1)|large_intestine(2)|liver(2)|lung(2)|urinary_tract(3)	10						CAGAGCCAGGCGCAGCGTCCC	0.647000													12	51					0	0	0.001855	0	0
TRPA1	8989	broad.mit.edu	37	8	72936059	72936059	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr8:72936059G>T	ENST00000262209.4	-	26	3346	c.3139C>A	c.(3139-3141)Cag>Aag	p.Q1047K	RP11-383H13.1_ENST00000524152.1_Intron|RP11-383H13.1_ENST00000537896.1_Intron|RP11-383H13.1_ENST00000457356.4_Intron	NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	1047						integral to plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	CGGTATTTCTGCTTTAATATT	0.259000													17	53					1.02788e-11	1.46399e-11	0.004990	1	0
RIMBP2	23504	broad.mit.edu	37	12	130935883	130935883	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr12:130935883G>T	ENST00000261655.4	-	5	473	c.310C>A	c.(310-312)Cag>Aag	p.Q104K	RIMBP2_ENST00000536002.1_Missense_Mutation_p.Q12K|RIMBP2_ENST00000535703.1_Missense_Mutation_p.Q12K	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	104						cell junction|synapse				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		GCGCTCTCCTGACCTGGCCAC	0.557000													15	33					7.93312e-07	9.54708e-07	0.002450	1	0
CRX	1406	broad.mit.edu	37	19	48343050	48343050	+	Silent	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr19:48343050G>T	ENST00000221996.7	+	4	932	c.726G>T	c.(724-726)gtG>gtT	p.V242V	TPRX2P_ENST00000535362.1_Intron|CRX_ENST00000539067.1_Silent_p.V242V	NM_000554.4	NP_000545.1	O43186	CRX_HUMAN	cone-rod homeobox	242			V -> M (in CORD2).		organ morphogenesis|response to stimulus|visual perception		leucine zipper domain binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|urinary_tract(1)	23		all_cancers(25;2.76e-09)|all_epithelial(76;7.01e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)		OV - Ovarian serous cystadenocarcinoma(262;0.000266)|all cancers(93;0.000788)|Epithelial(262;0.0226)|GBM - Glioblastoma multiforme(486;0.0521)		GCCCCTCCGTGGGACCTTCCC	0.652000													53	102					2.17126e-26	4.05246e-26	0.003610	1	0
ST8SIA3	51046	broad.mit.edu	37	18	55024672	55024672	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr18:55024672G>T	ENST00000324000.3	+	3	2865	c.831G>T	c.(829-831)tgG>tgT	p.W277C		NM_015879.2	NP_056963.2	O43173	SIA8C_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 3	277					glycosphingolipid biosynthetic process|N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(16)|prostate(1)|skin(3)	36				READ - Rectum adenocarcinoma(59;0.19)|Colorectal(16;0.205)		AACTGGCTTGGCCGGGAAATA	0.403000													31	76					2.47316e-13	3.69426e-13	0.003271	1	0
TTYH2	94015	broad.mit.edu	37	17	72227059	72227059	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr17:72227059G>T	ENST00000269346.4	+	3	409	c.335G>T	c.(334-336)aGc>aTc	p.S112I	TTYH2_ENST00000529107.1_Missense_Mutation_p.S91I	NM_032646.5	NP_116035.5	Q9BSA4	TTYH2_HUMAN	tweety family member 2	112						chloride channel complex|plasma membrane	chloride channel activity|protein binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(14)|ovary(3)|pancreas(1)|stomach(3)|upper_aerodigestive_tract(1)	36						TATGGAAACAGCGAGACCAAC	0.507000													26	52					8.24728e-16	1.31651e-15	0.004656	1	0
TPCN2	219931	broad.mit.edu	37	11	68846201	68846201	+	Splice_Site	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr11:68846201G>A	ENST00000294309.3	+	15	1451		c.e15-1		TPCN2_ENST00000542467.1_Splice_Site|TPCN2_ENST00000442692.2_Splice_Site	NM_139075.3	NP_620714.2	Q8NHX9	TPC2_HUMAN	two pore segment channel 2						cellular calcium ion homeostasis|smooth muscle contraction	endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated calcium channel activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	32			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			TGGCGTTGCAGGTGTTCCTGG	0.657000													5	57					0	0	0.001984	0	0
GRIA3	2892	broad.mit.edu	37	X	122616872	122616872	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chrX:122616872G>T	ENST00000264357.5	+	15	2954	c.2662G>T	c.(2662-2664)Gga>Tga	p.G888*	GRIA3_ENST00000542149.1_3'UTR|GRIA3_ENST00000371256.5_Nonsense_Mutation_p.G888*|GRIA3_ENST00000371251.1_Nonsense_Mutation_p.G888*	NM_000828.4	NP_000819.3	P42263	GRIA3_HUMAN	glutamate receptor, ionotropic, AMPA 3	888					glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					L-Glutamic Acid(DB00142)	CAACGTGTATGGAACAGAGAG	0.378000													26	66					1.39806e-14	2.16802e-14	0.008361	1	0
HARBI1	283254	broad.mit.edu	37	11	46637683	46637683	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr11:46637683C>G	ENST00000326737.3	-	2	352	c.105G>C	c.(103-105)ttG>ttC	p.L35F		NM_173811.3	NP_776172.1	Q96MB7	HARB1_HUMAN	harbinger transposase derived 1	35						cytoplasm|nucleus	metal ion binding|nuclease activity			large_intestine(1)|prostate(1)|upper_aerodigestive_tract(1)	3						ACATGGACATCAAGTATTCAT	0.478000													13	48					0	0	0.001368	0	0
RMDN3	55177	broad.mit.edu	37	15	41046915	41046915	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr15:41046915C>G	ENST00000260385.6	-	1	1134	c.67G>C	c.(67-69)Ggc>Cgc	p.G23R	RMDN3_ENST00000338376.3_Missense_Mutation_p.G23R					regulator of microtubule dynamics 3																		AATCCAAGGCCGGCGGCGGTA	0.657000													11	13					0	0	0.008291	0	0
CYP2B6	1555	broad.mit.edu	37	19	41515938	41515938	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr19:41515938C>A	ENST00000324071.4	+	6	869	c.862C>A	c.(862-864)Ctc>Atc	p.L288I	CYP2B6_ENST00000593831.1_Intron|CYP2B6_ENST00000330446.5_Intron	NM_000767.4	NP_000758.1	P20813	CP2B6_HUMAN	cytochrome P450, family 2, subfamily B, polypeptide 6	288					cellular ketone metabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(20;0.00322)		Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361)	CCACCAGAACCTCAACCTCAA	0.552000													14	40					3.45872e-05	3.94552e-05	0.004007	1	0
MMRN2	79812	broad.mit.edu	37	10	88702981	88702981	+	Silent	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr10:88702981C>A	ENST00000372027.4	-	6	1633	c.1560G>T	c.(1558-1560)gtG>gtT	p.V520V		NM_024756.2	NP_079032.2	Q9H8L6	MMRN2_HUMAN	multimerin 2	520						extracellular space				breast(1)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|stomach(1)	19						CGTCCAGGCTCACCTGGGTCT	0.667000													11	23					1.58986e-06	1.89159e-06	0.008291	1	0
GNL3L	54552	broad.mit.edu	37	X	54574706	54574706	+	Silent	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chrX:54574706G>T	ENST00000336470.4	+	9	814	c.675G>T	c.(673-675)ctG>ctT	p.L225L	GNL3L_ENST00000360845.2_Silent_p.L225L	NM_019067.5	NP_061940.1	Q9NVN8	GNL3L_HUMAN	guanine nucleotide binding protein-like 3 (nucleolar)-like	225					ribosome biogenesis	nucleolus	GTP binding			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	30						AGTCACTGCTGAAAAGCAAAG	0.493000													15	27					0.000422831	0.000463944	0.004007	1	0
GAB4	128954	broad.mit.edu	37	22	17447120	17447120	+	Silent	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr22:17447120C>A	ENST00000400588.1	-	6	1265	c.1158G>T	c.(1156-1158)gtG>gtT	p.V386V		NM_001037814.1	NP_001032903.1	Q2WGN9	GAB4_HUMAN	GRB2-associated binding protein family, member 4	386										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(24)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44		all_epithelial(15;0.112)|Lung NSC(13;0.248)				GACATGAGCCCACAGGGATGC	0.597000													11	44					5.50884e-06	6.4037e-06	0.001368	1	0
GPC4	2239	broad.mit.edu	37	X	132548941	132548941	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chrX:132548941G>T	ENST00000370828.3	-	1	577	c.53C>A	c.(52-54)gCc>gAc	p.A18D		NM_001448.2	NP_001439.2	O75487	GPC4_HUMAN	glypican 4	18					anatomical structure morphogenesis|cell proliferation	anchored to membrane|external side of plasma membrane|extracellular space|insoluble fraction|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;0.000127)					CAGCAGCGCGGCGCTGAGCAC	0.647000													11	21					3.07112e-06	3.60426e-06	0.000978	1	0
MDGA2	161357	broad.mit.edu	37	14	47530713	47530713	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr14:47530713G>T	ENST00000426342.1	-	7	1116	c.370C>A	c.(370-372)Cgt>Agt	p.R124S	MDGA2_ENST00000439988.2_Missense_Mutation_p.R353S|MDGA2_ENST00000399232.2_Missense_Mutation_p.R422S|MDGA2_ENST00000357362.3_Missense_Mutation_p.R124S	NM_182830.3	NP_878250.2	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	353	Ig-like 1.				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						TTCACCTCACGGCCAATCTGG	0.383000													12	36					0.00010058	0.000112206	0.001368	1	0
SELP	6403	broad.mit.edu	37	1	169582879	169582879	+	Silent	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:169582879G>T	ENST00000263686.6	-	4	571	c.534C>A	c.(532-534)atC>atA	p.I178I	SELP_ENST00000367788.2_Silent_p.I178I|SELP_ENST00000367786.2_Silent_p.I178I|SELP_ENST00000367794.2_Silent_p.I178I|SELP_ENST00000458599.2_Silent_p.I178I|SELP_ENST00000367793.2_Silent_p.I178I|SELP_ENST00000367792.2_Silent_p.I178I|SELP_ENST00000367791.2_Silent_p.I178I	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN	selectin P (granule membrane protein 140kDa, antigen CD62)	178	EGF-like.				platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)	TGTAGTTCCCGATGGTCTCGA	0.473000													19	44					2.37509e-13	3.55537e-13	0.010504	1	0
TRAV19	28664	broad.mit.edu	37	14	22476154	22476154	+	RNA	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr14:22476154G>T	ENST00000390447.3	+	0	201																											CTCAAGCGCAGACTGAAATTT	0.403000													4	3					0.00909568	0.0094903	0.009096	1	0
TOX2	84969	broad.mit.edu	37	20	42680075	42680075	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr20:42680075G>T	ENST00000358131.5	+	4	776	c.568G>T	c.(568-570)Ggc>Tgc	p.G190C	TOX2_ENST00000372999.1_Missense_Mutation_p.G139C|TOX2_ENST00000423191.1_Missense_Mutation_p.G139C|TOX2_ENST00000435864.2_Missense_Mutation_p.G59C|TOX2_ENST00000341197.3_Missense_Mutation_p.G181C	NM_001098798.1	NP_001092268.1	Q96NM4	TOX2_HUMAN	TOX high mobility group box family member 2	190					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)			CTCGCAGATGGGCATCCGGAG	0.677000													4	24					1.024e-07	1.28834e-07	0.000602	1	0
DOCK2	1794	broad.mit.edu	37	5	169135183	169135183	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr5:169135183G>T	ENST00000256935.8	+	15	1474	c.1394G>T	c.(1393-1395)tGc>tTc	p.C465F	DOCK2_ENST00000540750.1_5'UTR|DOCK2_ENST00000520908.1_5'UTR	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	465	DHR-1.				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AATGCAATTTGCGTGGGAGCA	0.463000													5	14					0.00116845	0.00125945	0.001168	1	0
KCNV2	169522	broad.mit.edu	37	9	2729457	2729457	+	Silent	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr9:2729457C>A	ENST00000382082.3	+	2	1606	c.1368C>A	c.(1366-1368)tcC>tcA	p.S456S		NM_133497.3	NP_598004.1	Q8TDN2	KCNV2_HUMAN	potassium channel, subfamily V, member 2	456						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	35				GBM - Glioblastoma multiforme(50;0.0257)		TGAGCATCTCCACCGTGGGCT	0.532000													35	13					1.15183e-24	2.12012e-24	0.009718	1	0
MUC16	94025	broad.mit.edu	37	19	9082425	9082425	+	Silent	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr19:9082425G>T	ENST00000397910.4	-	1	9593	c.9390C>A	c.(9388-9390)ccC>ccA	p.P3130P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3131	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGGGTTCTGTGGGAGAAGAGA	0.488000													27	57					3.01185e-09	3.97694e-09	0.003954	1	0
HYDIN	54768	broad.mit.edu	37	16	70871670	70871670	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr16:70871670G>C	ENST00000393567.2	-	77	13315	c.13165C>G	c.(13165-13167)Caa>Gaa	p.Q4389E		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	4389										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				ATGAGTTCTTGATAGTTGATA	0.438000													11	22					0	0	0.001855	0	0
TTN	7273	broad.mit.edu	37	2	179440483	179440483	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr2:179440483G>T	ENST00000589042.1	-	326	70600	c.70376C>A	c.(70375-70377)cCt>cAt	p.P23459H	TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P14394H|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P14586H|TTN_ENST00000591111.1_Missense_Mutation_p.P21818H|TTN_ENST00000342992.6_Missense_Mutation_p.P20891H|TTN_ENST00000359218.5_Missense_Mutation_p.P14519H|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	21818	Fibronectin type-III 70.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATCTATCAGAGGGAGGTCCCA	0.507000													50	60					5.82388e-19	9.94603e-19	0.003610	1	0
ABI3	51225	broad.mit.edu	37	17	47297531	47297531	+	Splice_Site	SNP	C	C	T	rs147987389		TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr17:47297531C>T	ENST00000225941.1	+	6	1143	c.644_splice	c.e6-1	p.G215_splice	ABI3_ENST00000419580.2_Splice_Site_p.G209_splice	NM_001135186.1|NM_016428.2	NP_001128658.1|NP_057512.1	Q9P2A4	ABI3_HUMAN	ABI family, member 3	215					cellular component movement|regulation of cell migration	cytoplasm|lamellipodium	protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	12			Epithelial(5;6.37e-06)|all cancers(6;6.36e-05)			TGGTGTTCAGCAGCGCCGAAG	0.682000										HNSCC(55;0.14)			5	34					0	0	0.001984	0	0
AR	367	broad.mit.edu	37	X	66941747	66941747	+	Nonsense_Mutation	SNP	G	G	A	rs137852565		TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chrX:66941747G>A	ENST00000374690.3	+	6	2915	c.2391G>A	c.(2389-2391)tgG>tgA	p.W797*	AR_ENST00000396044.3_Intron|AR_ENST00000396043.2_Nonsense_Mutation_p.W265*	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN	androgen receptor	796	Interaction with MYST2.|Ligand-binding.				cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport	cytoplasm|nuclear chromatin|nucleoplasm	androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624)	AGTTTGGATGGCTCCAAATCA	0.527000									Androgen Insensitivity Syndrome				16	29					0	0	0.004990	0	0
ZIC1	7545	broad.mit.edu	37	3	147130396	147130396	+	Missense_Mutation	SNP	C	C	A	rs138369951	by1000genomes	TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr3:147130396C>A	ENST00000282928.4	+	2	1803	c.1074C>A	c.(1072-1074)agC>agA	p.S358R		NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN	Zic family member 1	358					behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						TGCACACGAGCGACAAGCCCT	0.582000													40	77					7.05121e-23	1.27078e-22	0.002522	1	0
SLC26A10	65012	broad.mit.edu	37	12	58018936	58018936	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr12:58018936G>A	ENST00000320442.4	+	11	1686	c.1375G>A	c.(1375-1377)Gca>Aca	p.A459T	SLC26A10_ENST00000379218.2_3'UTR|SLC26A10_ENST00000490243.1_3'UTR	NM_133489.2	NP_597996.2	Q8NG04	S2610_HUMAN	solute carrier family 26, member 10	459	STAS.					integral to membrane	antiporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)	19	Melanoma(17;0.122)					CCCAATGGTTGCAGGTGAGAT	0.512000													87	195					0	0	0.003610	0	0
C11orf54	28970	broad.mit.edu	37	11	93492964	93492964	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr11:93492964G>T	ENST00000528288.1	+	7	799	c.564G>T	c.(562-564)ttG>ttT	p.L188F	C11orf54_ENST00000528099.1_Missense_Mutation_p.L238F|C11orf54_ENST00000354421.3_Missense_Mutation_p.L238F|C11orf54_ENST00000331239.4_Missense_Mutation_p.L238F|C11orf54_ENST00000540113.1_Missense_Mutation_p.L219F	NM_014039.2	NP_054758.2	Q9H0W9	CK054_HUMAN	chromosome 11 open reading frame 54	238						nucleus	hydrolase activity, acting on ester bonds|protein binding|zinc ion binding			NS(1)|endometrium(1)|large_intestine(1)|lung(5)	8		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				ATAAATGGTTGCATTTTTATG	0.338000													28	75					3.65163e-15	5.72935e-15	0.006320	1	0
MYLK4	340156	broad.mit.edu	37	6	2693048	2693048	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr6:2693048C>A	ENST00000274643.7	-	3	547	c.205G>T	c.(205-207)Gtc>Ttc	p.V69F	MYLK4_ENST00000268446.5_Missense_Mutation_p.V69F	NM_001012418.3	NP_001012418.2	Q86YV6	MYLK4_HUMAN	myosin light chain kinase family, member 4	69							ATP binding|protein serine/threonine kinase activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(2)|skin(1)	23	Ovarian(93;0.0412)	all_hematologic(90;0.0897)				TTGCTTTTGACGGGCATCCTT	0.433000													11	31					2.62699e-14	4.02695e-14	0.003163	1	0
LTF	4057	broad.mit.edu	37	3	46480871	46480871	+	Silent	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr3:46480871G>A	ENST00000231751.4	-	15	2119	c.1824C>T	c.(1822-1824)tgC>tgT	p.C608C	LTF_ENST00000493056.1_5'UTR|LTF_ENST00000417439.1_Silent_p.C606C|LTF_ENST00000426532.2_Silent_p.C564C	NM_002343.3	NP_002334.2	P02788	TRFL_HUMAN	lactotransferrin	608	Transferrin-like 2.				cellular iron ion homeostasis|defense response to bacterium|humoral immune response|iron ion transport	extracellular region|stored secretory granule	ferric iron binding|heparin binding|protein binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	40				all cancers(1;7.55e-14)|GBM - Glioblastoma multiforme(1;2.1e-09)|Epithelial(1;9.25e-07)|Colorectal(1;3.81e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00129)|COAD - Colon adenocarcinoma(1;0.00308)|KIRC - Kidney renal clear cell carcinoma(197;0.0205)|Kidney(197;0.0242)|OV - Ovarian serous cystadenocarcinoma(275;0.089)	Pefloxacin(DB00487)	TGGCAAGATGGCAGCTTCTAG	0.547000													25	21					0	0	0.003954	0	0
TSIX	9383	broad.mit.edu	37	X	73048957	73048957	+	RNA	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chrX:73048957G>A	ENST00000604411.1	+	0	36918				XIST_ENST00000429829.1_lincRNA	NR_003255.2																						CTTCAGGTGGGAAGGCTGACT	0.453000													4	32					0	0	0.009096	0	0
COL2A1	1280	broad.mit.edu	37	12	48377872	48377872	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr12:48377872C>G	ENST00000380518.3	-	29	2103	c.1939G>C	c.(1939-1941)Gct>Cct	p.A647P	COL2A1_ENST00000337299.6_Missense_Mutation_p.A578P|COL2A1_ENST00000493991.1_5'UTR	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	647	Triple-helical region.				axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	GTACTTACAGCAGGGCCAGGG	0.582000													8	20					0	0	0.008291	0	0
MURC	347273	broad.mit.edu	37	9	103348308	103348308	+	Missense_Mutation	SNP	A	A	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr9:103348308A>G	ENST00000307584.5	+	2	735	c.670A>G	c.(670-672)Aga>Gga	p.R224G		NM_001018116.1	NP_001018126.1	Q5BKX8	MURC_HUMAN	muscle-related coiled-coil protein	224					cell differentiation|muscle organ development|transcription, DNA-dependent					endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)	16		Acute lymphoblastic leukemia(62;0.0461)				AATTAGAACTAGAATAGTGAC	0.468000													62	29					0	0	0.003610	0	0
KCNU1	157855	broad.mit.edu	37	8	36691150	36691150	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr8:36691150G>T	ENST00000399881.3	+	11	1222	c.1185G>T	c.(1183-1185)atG>atT	p.M395I		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	395	RCK N-terminal.					voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		GATCTGCAATGAAGTGGGAGG	0.393000													4	22					0.00909568	0.0094903	0.009096	1	0
RTN4	57142	broad.mit.edu	37	2	55253785	55253785	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr2:55253785C>A	ENST00000337526.6	-	3	1693	c.1450G>T	c.(1450-1452)Gga>Tga	p.G484*	RTN4_ENST00000357376.3_Nonsense_Mutation_p.G278*|RTN4_ENST00000394611.2_Nonsense_Mutation_p.G278*|RTN4_ENST00000405240.1_Nonsense_Mutation_p.G278*|RTN4_ENST00000404909.1_Nonsense_Mutation_p.G278*|RTN4_ENST00000354474.6_Nonsense_Mutation_p.G252*|RTN4_ENST00000357732.4_Intron|RTN4_ENST00000317610.7_Intron|RTN4_ENST00000402434.2_Intron	NM_020532.4	NP_065393.1	Q9NQC3	RTN4_HUMAN	reticulon 4	484					apoptosis|axonal fasciculation|cerebral cortex radial glia guided migration|endoplasmic reticulum tubular network organization|negative regulation of anti-apoptosis|negative regulation of axon extension|nerve growth factor receptor signaling pathway|regulation of apoptosis|regulation of branching morphogenesis of a nerve|regulation of cell migration	integral to endoplasmic reticulum membrane|nuclear envelope|plasma membrane	protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(1)|skin(1)|stomach(1)	36						GTAGGATCTCCTAACAAAGGA	0.388000													44	88					2.26627e-22	4.05442e-22	0.007835	1	0
EEF2K	29904	broad.mit.edu	37	16	22256000	22256000	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr16:22256000G>T	ENST00000263026.5	+	3	770	c.296G>T	c.(295-297)tGg>tTg	p.W99L		NM_013302.3	NP_037434.1	O00418	EF2K_HUMAN	eukaryotic elongation factor-2 kinase	99					insulin receptor signaling pathway|translational elongation	cytosol	ATP binding|calcium ion binding|calmodulin binding|elongation factor-2 kinase activity|translation factor activity, nucleic acid binding			breast(1)|central_nervous_system(1)|endometrium(8)|large_intestine(2)|lung(13)|ovary(1)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(48;0.0223)		CCCGACCCCTGGGCTGAGTTC	0.587000													35	45					2.59497e-14	3.99457e-14	0.007835	1	0
TPR	7175	broad.mit.edu	37	1	186287706	186287706	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:186287706C>A	ENST00000367478.3	-	48	6990	c.6694G>T	c.(6694-6696)Gat>Tat	p.D2232Y		NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	2232					carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity			autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		TCCGAAGCATCAGAGGTGGTG	0.383000			T	NTRK1	papillary thyroid								14	39					0.00185496	0.00199211	0.001855	1	0
HIVEP2	3097	broad.mit.edu	37	6	143093749	143093749	+	Silent	SNP	C	C	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr6:143093749C>G	ENST00000367603.2	-	5	2869	c.2127G>C	c.(2125-2127)acG>acC	p.T709T	HIVEP2_ENST00000012134.2_Silent_p.T709T|HIVEP2_ENST00000367604.1_Silent_p.T709T	NM_006734.3	NP_006725.3	P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	709					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		AGATCATGGGCGTGTCCTCTT	0.522000													36	40					0	0	0.003755	0	0
WNT10B	7480	broad.mit.edu	37	12	49361734	49361734	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr12:49361734G>T	ENST00000301061.4	-	4	1054	c.706C>A	c.(706-708)Cgc>Agc	p.R236S	WNT10B_ENST00000403957.1_Silent_p.G170G|WNT10B_ENST00000407467.1_Silent_p.G188G	NM_003394.3	NP_003385.2	O00744	WN10B_HUMAN	wingless-type MMTV integration site family, member 10B	236					axis specification|bone trabecula formation|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|chondrocyte differentiation|female gonad development|hemopoietic stem cell proliferation|midbrain-hindbrain boundary development|myoblast cell differentiation involved in skeletal muscle regeneration|negative regulation of epithelial cell proliferation|negative regulation of fat cell differentiation|neuron differentiation|positive regulation of anagen|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cell proliferation|positive regulation of epithelial cell differentiation|positive regulation of osteoblast differentiation|protein stabilization|regulation of skeletal muscle tissue development|skeletal muscle fiber development|smoothened signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity	p.R236C(1)		central_nervous_system(1)|large_intestine(5)|lung(12)|prostate(1)|skin(4)	23						CATACCTGGCGCCCCACCCTG	0.517000													16	28					2.62699e-14	4.02695e-14	0.003163	1	0
FAM47B	170062	broad.mit.edu	37	X	34961615	34961615	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chrX:34961615C>A	ENST00000329357.5	+	1	703	c.667C>A	c.(667-669)Ctc>Atc	p.L223I		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	223	Pro-rich.									breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						GGTGTCCAGTCTCCGCCCAGA	0.662000													32	68					3.90053e-15	6.11333e-15	0.002445	1	0
C9orf163	158055	broad.mit.edu	37	9	139379174	139379174	+	Missense_Mutation	SNP	G	G	T	rs142971274		TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr9:139379174G>T	ENST00000354376.1	+	1	1228	c.274G>T	c.(274-276)Gtg>Ttg	p.V92L		NM_152571.2	NP_689784.1	Q8N9P6	CI163_HUMAN	chromosome 9 open reading frame 163	92							protein binding			kidney(1)|lung(1)	2		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;4.36e-06)|Epithelial(140;5.65e-06)		TCCGGCTGACGTGGCACCAGG	0.632000													19	13					3.5997e-14	5.50653e-14	0.002299	1	0
HEPACAM2	253012	broad.mit.edu	37	7	92855759	92855759	+	Translation_Start_Site	SNP	T	T	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr7:92855759T>C	ENST00000394468.2	-	1	78	c.1A>G	c.(1-3)Atg>Gtg	p.M1V	HEPACAM2_ENST00000453812.2_Start_Codon_SNP_p.M1V	NM_001039372.1	NP_001034461.1	A8MVW5	HECA2_HUMAN	HEPACAM family member 2	1						integral to membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(4)|skin(1)	28						TCCTGTCCCATGCATGCAGTG	0.493000													8	252					0	0	0.003080	0	0
OR14C36	127066	broad.mit.edu	37	1	248512430	248512430	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:248512430T>A	ENST00000317861.1	+	1	354	c.354T>A	c.(352-354)caT>caA	p.H118Q		NM_001001918.1	NP_001001918.1	Q8NHC7	O14CZ_HUMAN	olfactory receptor, family 14, subfamily C, member 36	118					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(2)|lung(20)|ovary(2)|prostate(3)|skin(7)|upper_aerodigestive_tract(2)	43						TTATGGCTCATGACCGCTATG	0.502000													13	16					0	0	0.001855	0	0
SLC8A1	6546	broad.mit.edu	37	2	40656328	40656328	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr2:40656328G>C	ENST00000406785.1	-	2	1282	c.1093C>G	c.(1093-1095)Cgc>Ggc	p.R365G	SLC8A1_ENST00000406391.2_Missense_Mutation_p.R365G|SLC8A1_ENST00000405901.3_Missense_Mutation_p.R365G|SLC8A1_ENST00000405269.1_Missense_Mutation_p.R365G|SLC8A1_ENST00000402441.1_Missense_Mutation_p.R365G|SLC8A1_ENST00000542756.1_Missense_Mutation_p.R365G|SLC8A1_ENST00000542024.1_Missense_Mutation_p.R365G|SLC8A1_ENST00000408028.2_Missense_Mutation_p.R365G|SLC8A1_ENST00000403092.1_Missense_Mutation_p.R365G|SLC8A1_ENST00000332839.4_Missense_Mutation_p.R365G			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	365					cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	GCTTGAATGCGATAAAATGCT	0.433000													12	66					0	0	0.002450	0	0
CHI3L1	1116	broad.mit.edu	37	1	203149637	203149637	+	Silent	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:203149637G>T	ENST00000255409.3	-	8	980	c.855C>A	c.(853-855)ggC>ggA	p.G285G		NM_001276.2	NP_001267.2	P36222	CH3L1_HUMAN	chitinase 3-like 1 (cartilage glycoprotein-39)	285					chitin catabolic process	extracellular space|proteinaceous extracellular matrix	cation binding|chitinase activity|extracellular matrix structural constituent|sugar binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|skin(1)	18						TGGTGAACCGGCCTGGAATTC	0.587000													13	24					2.32078e-09	3.08387e-09	0.003163	1	0
OR9K2	441639	broad.mit.edu	37	12	55523708	55523708	+	Silent	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr12:55523708C>A	ENST00000305377.5	+	1	244	c.156C>A	c.(154-156)ctC>ctA	p.L52L		NM_001005243.1	NP_001005243.1	Q8NGE7	OR9K2_HUMAN	olfactory receptor, family 9, subfamily K, member 2	52					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(3)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(2)	31						ACATTCTCCTCTTCCTGCTAT	0.448000													75	109					3.86735e-44	7.54441e-44	0.003610	1	0
TRBV6-7	28600	broad.mit.edu	37	7	142143715	142143715	+	RNA	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr7:142143715G>T	ENST00000390373.2	-	0	280																											CAGCTTGAGGGGGAAATCCTC	0.502000													60	32					1.53122e-18	2.59988e-18	0.003610	1	0
NXPE1	120400	broad.mit.edu	37	11	114393655	114393655	+	Silent	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr11:114393655G>A	ENST00000536271.1	-	3	1445	c.202C>T	c.(202-204)Ctg>Ttg	p.L68L	NXPE1_ENST00000424269.1_Silent_p.L352L|NXPE1_ENST00000251921.2_Silent_p.L210L					neurexophilin and PC-esterase domain family, member 1																		GAGTCTCCCAGGAGGTAAATG	0.353000													22	26					0	0	0.003954	0	0
COL5A2	1290	broad.mit.edu	37	2	189899839	189899839	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr2:189899839G>T	ENST00000374866.3	-	53	4430	c.4156C>A	c.(4156-4158)Cag>Aag	p.Q1386K		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	1386	Fibrillar collagen NC1.				axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			AAAGTCATCTGAGTAATGGCT	0.393000													17	64					1.00905e-13	1.52921e-13	0.008871	1	0
DST	667	broad.mit.edu	37	6	56397172	56397172	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr6:56397172C>A	ENST00000370754.5	-	64	16984	c.16985G>T	c.(16984-16986)tGg>tTg	p.W5662L	DST_ENST00000340834.4_5'UTR|DST_ENST00000370788.2_Missense_Mutation_p.W3396L|DST_ENST00000312431.6_3'UTR|DST_ENST00000446842.2_Missense_Mutation_p.W5158L|DST_ENST00000421834.2_Missense_Mutation_p.W3396L|DST_ENST00000370769.4_Missense_Mutation_p.W5484L|DST_ENST00000244364.6_Missense_Mutation_p.W3070L|DST_ENST00000361203.3_Missense_Mutation_p.W5482L			Q03001	DYST_HUMAN	dystonin	5482					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CAATGCCTCCCATCTGCTATC	0.398000													24	17					9.57634e-11	1.32408e-10	0.003330	1	0
MRPL45P2	653479	broad.mit.edu	37	17	45560458	45560458	+	RNA	SNP	T	T	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr17:45560458T>C	ENST00000575291.1	-	0	507																											CTCCGGATTCTGTAAAATTAA	0.348000													24	37					0	0	0.003610	0	0
DNAH3	55567	broad.mit.edu	37	16	21098179	21098179	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr16:21098179G>T	ENST00000261383.3	-	19	2867	c.2868C>A	c.(2866-2868)caC>caA	p.H956Q	DNAH3_ENST00000415178.1_Missense_Mutation_p.H956Q	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	956	Stem (By similarity).				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)		CCTGCTGCCAGTGTCGGTCTT	0.527000													62	72					5.62145e-24	1.0257e-23	0.003610	1	0
SEMA3D	223117	broad.mit.edu	37	7	84727122	84727122	+	Splice_Site	SNP	T	T	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr7:84727122T>A	ENST00000284136.6	-	2	354	c.312_splice	c.e2+1	p.K104_splice	SEMA3D_ENST00000444867.1_Splice_Site_p.K104_splice	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D	104	Sema.				cell differentiation|nervous system development	extracellular region|membrane	receptor activity			NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						TATACTGACCTTCTTAAAATT	0.353000													68	91					0	0	0.003610	0	0
TTN	7273	broad.mit.edu	37	2	179497646	179497646	+	Splice_Site	SNP	T	T	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr2:179497646T>A	ENST00000589042.1	-	234	43436	c.43213_splice	c.e234+1	p.K14404_splice	TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000460472.2_Splice_Site_p.K5339_splice|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Splice_Site_p.K5531_splice|TTN_ENST00000591111.1_Splice_Site_p.K12763_splice|TTN_ENST00000342992.6_Splice_Site_p.K11836_splice|TTN_ENST00000359218.5_Splice_Site_p.K5464_splice|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589487.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	12763							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGAGCATACCTTTCACTTTCA	0.438000													99	81					0	0	0.003610	0	0
NKAPL	222698	broad.mit.edu	37	6	28227326	28227326	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr6:28227326C>A	ENST00000343684.3	+	1	229	c.177C>A	c.(175-177)gaC>gaA	p.D59E		NM_001007531.1	NP_001007532.1	Q5M9Q1	NKAPL_HUMAN	NFKB activating protein-like	59										breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						GTGAGTTGGACGTGGGCGCTC	0.637000													33	52					5.91797e-21	1.04097e-20	0.002445	1	0
DSG4	147409	broad.mit.edu	37	18	28991352	28991352	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr18:28991352C>A	ENST00000359747.4	+	14	2382	c.2353C>A	c.(2353-2355)Ctg>Atg	p.L785M	DSG4_ENST00000308128.4_Missense_Mutation_p.L766M|RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000578477.1_RNA	NM_001134453.1	NP_001127925.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	766					homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			CATGGGAACCCTGCGGGACTA	0.577000													12	51					3.07112e-06	3.60426e-06	0.000978	1	0
HMGCLL1	54511	broad.mit.edu	37	6	55360299	55360299	+	Missense_Mutation	SNP	T	T	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr6:55360299T>G	ENST00000398661.2	-	8	934	c.803A>C	c.(802-804)aAa>aCa	p.K268T	HMGCLL1_ENST00000274901.4_Missense_Mutation_p.K238T|HMGCLL1_ENST00000370850.2_Missense_Mutation_p.K135T|HMGCLL1_ENST00000508459.1_Intron|HMGCLL1_ENST00000308161.4_Missense_Mutation_p.K206T	NM_019036.2	NP_061909.2	Q8TB92	HMGC2_HUMAN	3-hydroxymethyl-3-methylglutaryl-CoA lyase-like 1	268							hydroxymethylglutaryl-CoA lyase activity|metal ion binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31	Lung NSC(77;0.0875)		LUSC - Lung squamous cell carcinoma(124;0.23)			TGGGATTTCTTTCATCACACT	0.433000													50	39					0	0	0.003610	0	0
ABCA10	10349	broad.mit.edu	37	17	67215830	67215830	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr17:67215830C>A	ENST00000269081.4	-	7	1295	c.386G>T	c.(385-387)gGa>gTa	p.G129V	ABCA10_ENST00000416101.2_Missense_Mutation_p.G129V|ABCA10_ENST00000432313.2_Missense_Mutation_p.G129V	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	129					transport	integral to membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					CATAATTTCTCCCTTAGAAAT	0.313000													23	61					4.26978e-12	6.12294e-12	0.003330	1	0
GBP6	163351	broad.mit.edu	37	1	89834176	89834176	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:89834176G>T	ENST00000370456.4	+	2	159	c.66G>T	c.(64-66)ttG>ttT	p.L22F	GBP6_ENST00000535065.1_Intron	NM_198460.2	NP_940862.2	Q6ZN66	GBP6_HUMAN	guanylate binding protein family, member 6	22							GTP binding|GTPase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42		Lung NSC(277;0.0908)		all cancers(265;0.0108)|Epithelial(280;0.0398)		AGCAGCTATTGGTGAACCAGC	0.478000													19	52					8.10497e-08	1.0206e-07	0.010504	1	0
OR56B1	387748	broad.mit.edu	37	11	5758365	5758365	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr11:5758365T>A	ENST00000317121.3	+	1	685	c.619T>A	c.(619-621)Tgc>Agc	p.C207S	TRIM5_ENST00000380027.1_Intron	NM_001005180.2	NP_001005180.1	Q8NGI3	O56B1_HUMAN	olfactory receptor, family 56, subfamily B, member 1	207					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	13		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.086)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.184)		AAACAGCATTTGCCAGTTGGT	0.443000													6	39					0	0	0.001168	0	0
CRISP2	7180	broad.mit.edu	37	6	49667590	49667590	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr6:49667590C>A	ENST00000339139.4	-	6	434	c.198G>T	c.(196-198)gaG>gaT	p.E66D		NM_001142407.2|NM_001142408.2|NM_001142417.2|NM_001142435.2|NM_001261822.1|NM_003296.3	NP_001135879.1|NP_001135880.1|NP_001135889.1|NP_001135907.1|NP_001248751.1|NP_003287.1	P16562	CRIS2_HUMAN	cysteine-rich secretory protein 2	66						extracellular space				kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	19	Lung NSC(77;0.0161)		KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)			TCGTTGTTACCTCTCTGCTCC	0.348000													13	28					3.27435e-08	4.16246e-08	0.002450	1	0
SPAM1	6677	broad.mit.edu	37	7	123599874	123599874	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr7:123599874G>A	ENST00000340011.5	+	5	1738	c.1381G>A	c.(1381-1383)Gat>Aat	p.D461N	SPAM1_ENST00000439500.1_Missense_Mutation_p.D461N|SPAM1_ENST00000402183.2_Missense_Mutation_p.D461N|SPAM1_ENST00000460182.1_Missense_Mutation_p.D461N|SPAM1_ENST00000223028.7_Missense_Mutation_p.D461N	NM_003117.4	NP_003108.2	P38567	HYALP_HUMAN	sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding)	461					binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane	anchored to membrane|plasma membrane	hyalurononglucosaminidase activity			breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46					Hyaluronidase(DB00070)	GTGTATTGCTGATGGTGTCTG	0.388000													26	36					0	0	0.004656	0	0
LAMA1	284217	broad.mit.edu	37	18	7034485	7034485	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr18:7034485G>T	ENST00000389658.3	-	14	2137	c.2044C>A	c.(2044-2046)Ctt>Att	p.L682I		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	682	Laminin IV type A 1.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TACCTGTAAAGAGCCATTTTT	0.363000													43	9					3.4597e-24	6.33631e-24	0.003610	1	0
KIRREL	55243	broad.mit.edu	37	1	158059251	158059251	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:158059251G>T	ENST00000368172.1	+	5	458	c.446G>T	c.(445-447)aGg>aTg	p.R149M	KIRREL_ENST00000368173.3_Missense_Mutation_p.R351M|KIRREL_ENST00000392272.2_Intron|KIRREL_ENST00000416935.2_Intron|KIRREL_ENST00000360089.4_Intron|KIRREL_ENST00000359209.6_Intron			Q96J84	KIRR1_HUMAN	kin of IRRE like (Drosophila)	348	Ig-like C2-type 2.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1)	38	all_hematologic(112;0.0378)					TAGGGGCCCAGGCCTCCTGGC	0.622000													14	20					0.00244969	0.00261741	0.002450	1	0
NUP205	23165	broad.mit.edu	37	7	135282896	135282896	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr7:135282896C>T	ENST00000285968.6	+	15	2241	c.2215C>T	c.(2215-2217)Ctt>Ttt	p.L739F	NUP205_ENST00000440390.2_3'UTR	NM_015135.2	NP_055950.1	Q92621	NU205_HUMAN	nucleoporin 205kDa	739					carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						TTTGCAGTTCCTTAGAGACTC	0.458000													112	62					0	0	0.003610	0	0
CR1L	1379	broad.mit.edu	37	1	207881565	207881565	+	Silent	SNP	G	G	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:207881565G>C	ENST00000508064.2	+	10	1431	c.1371G>C	c.(1369-1371)tcG>tcC	p.S457S	CR1L_ENST00000530905.1_Intron	NM_175710.1	NP_783641.1	Q2VPA4	CR1L_HUMAN	complement component (3b/4b) receptor 1-like	457	Sushi 7.					cytoplasm|extracellular region|membrane				endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						GTATCCTCTCGGGCAATACTG	0.453000													24	126					0	0	0.004656	0	0
NOX3	50508	broad.mit.edu	37	6	155749951	155749951	+	Silent	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr6:155749951G>T	ENST00000159060.2	-	9	1224	c.1122C>A	c.(1120-1122)ctC>ctA	p.L374L		NM_015718.2	NP_056533.1	Q9HBY0	NOX3_HUMAN	NADPH oxidase 3	374	FAD-binding FR-type.						electron carrier activity|flavin adenine dinucleotide binding|iron ion binding			cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	45		Breast(66;0.0183)		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)		AGGGCTCCTGGAGGGCCTGTC	0.532000													10	43					0.00829132	0.00870055	0.008291	1	0
SIPA1L1	26037	broad.mit.edu	37	14	72190593	72190593	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr14:72190593G>A	ENST00000555818.1	+	16	4849	c.4501G>A	c.(4501-4503)Gac>Aac	p.D1501N	SIPA1L1_ENST00000381232.3_Missense_Mutation_p.D1480N|SIPA1L1_ENST00000358550.2_Missense_Mutation_p.D1480N|SIPA1L1_ENST00000537413.1_Missense_Mutation_p.D955N|SIPA1L1_ENST00000554874.1_3'UTR	NM_015556.1	NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	1501					actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		GGGATTTATGGACACGAGAAA	0.458000													8	53					0	0	0.003080	0	0
ANO3	63982	broad.mit.edu	37	11	26619958	26619958	+	Silent	SNP	C	C	A	rs148526395		TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr11:26619958C>A	ENST00000256737.3	+	15	2346	c.1494C>A	c.(1492-1494)acC>acA	p.T498T	ANO3_ENST00000537978.1_Silent_p.T482T|ANO3_ENST00000531568.1_Silent_p.T352T|ANO3_ENST00000525139.1_Silent_p.T482T	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3	498						chloride channel complex	chloride channel activity			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						GTATACTGACCTATACTTGGG	0.368000													172	81					1.06793e-96	2.12283e-96	0.003610	1	0
CHD1	1105	broad.mit.edu	37	5	98236897	98236897	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr5:98236897G>C	ENST00000284049.3	-	5	729	c.580C>G	c.(580-582)Caa>Gaa	p.Q194E		NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1	194					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding			NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	TACCTATTTTGAGGTTTTCTG	0.328000													23	79					0	0	0.004656	0	0
COL24A1	255631	broad.mit.edu	37	1	86304278	86304278	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:86304278T>A	ENST00000370571.2	-	43	4037	c.3671A>T	c.(3670-3672)gAg>gTg	p.E1224V	COL24A1_ENST00000436319.1_Missense_Mutation_p.E1224V	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	1224	Collagen-like 13.				cell adhesion	collagen	extracellular matrix structural constituent			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		CTTATATCCCTCTGCTCCAGG	0.398000													30	41					0	0	0.009535	0	0
RSC1A1	6248	broad.mit.edu	37	1	15987376	15987376	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:15987376G>T	ENST00000345034.1	+	1	1013	c.1013G>T	c.(1012-1014)tGt>tTt	p.C338F	DDI2_ENST00000480945.1_3'UTR	NM_006511.1	NP_006502.1	Q92681	RSCA1_HUMAN	regulatory solute carrier protein, family 1, member 1	338					negative regulation of transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transport	cell junction|Golgi apparatus|nucleus	ion channel inhibitor activity			kidney(1)|large_intestine(3)|lung(6)|ovary(1)	11		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00276)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.73e-07)|COAD - Colon adenocarcinoma(227;3.49e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000114)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TGTGGCAGTTGTCAGCCTTCT	0.433000													13	37					2.27111e-07	2.79507e-07	0.001368	1	0
NCOR2	9612	broad.mit.edu	37	12	124827678	124827678	+	Silent	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr12:124827678G>A	ENST00000356219.3	-	34	4985	c.4830C>T	c.(4828-4830)caC>caT	p.H1610H	NCOR2_ENST00000404121.2_Silent_p.H1164H|NCOR2_ENST00000429285.2_Silent_p.H1593H|NCOR2_ENST00000405201.1_Silent_p.H1603H|NCOR2_ENST00000404621.1_Silent_p.H1593H|NCOR2_ENST00000397355.1_Silent_p.H1594H	NM_006312.5	NP_006303.4	Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	1611					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		GGTGTGGGTGGTGCTCGGGCA	0.657000													15	40					0	0	0.004990	0	0
BCL6	604	broad.mit.edu	37	3	187447752	187447752	+	Silent	SNP	C	C	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr3:187447752C>G	ENST00000406870.2	-	5	807	c.441G>C	c.(439-441)cgG>cgC	p.R147R	RP11-211G3.3_ENST00000437407.1_Intron|BCL6_ENST00000232014.4_Silent_p.R147R|RP11-211G3.3_ENST00000449623.1_Intron|BCL6_ENST00000450123.2_Silent_p.R147R	NM_001706.4	NP_001697.2	P41182	BCL6_HUMAN	B-cell CLL/lymphoma 6	147					negative regulation of B cell apoptosis|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|protein import into nucleus, translocation|regulation of germinal center formation|response to DNA damage stimulus	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(9)|lung(10)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	40	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)		GCATCAGCATCCGGCTGTTGA	0.547000			"""T, Mis"""	"""IG loci, ZNFN1A1, LCP1, PIM1, TFRC, CIITA, NACA, HSPCB, HSPCA, HIST1H4I, IL21R,  POU2AF1, ARHH, EIF4A2, SFRS3"""	"""NHL, CLL"""								7	119					0	0	0.003080	0	0
CNKSR2	22866	broad.mit.edu	37	X	21627666	21627666	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chrX:21627666G>T	ENST00000425654.2	+	19	3013	c.2533G>T	c.(2533-2535)Gag>Tag	p.E845*	CNKSR2_ENST00000279451.4_Nonsense_Mutation_p.E875*|CNKSR2_ENST00000543067.1_Nonsense_Mutation_p.E826*|CNKSR2_ENST00000379510.3_Nonsense_Mutation_p.E875*	NM_001168647.1	NP_001162118.1	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras 2	875					regulation of signal transduction	cytoplasm|membrane	protein binding			breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						GCAACCCCCagaggtggagga	0.522000													15	27					1.3612e-06	1.62613e-06	0.003163	1	0
ZNF831	128611	broad.mit.edu	37	20	57767204	57767204	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr20:57767204G>A	ENST00000371030.2	+	1	1130	c.1130G>A	c.(1129-1131)gGc>gAc	p.G377D		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	377						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					GAGGGGGAgggcggcccgggc	0.761000													5	20					0	0	0.000602	0	0
CSMD3	114788	broad.mit.edu	37	8	113484863	113484863	+	Silent	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr8:113484863C>T	ENST00000297405.5	-	32	5596	c.5352G>A	c.(5350-5352)gtG>gtA	p.V1784V	CSMD3_ENST00000455883.2_Silent_p.V1680V|CSMD3_ENST00000352409.3_Silent_p.V1784V|CSMD3_ENST00000343508.3_Silent_p.V1744V	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1784	CUB 10.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AATTATGTCCCACACTGTAAT	0.363000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			9	68					0	0	0.006214	0	0
IRS1	3667	broad.mit.edu	37	2	227662648	227662648	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr2:227662648C>A	ENST00000305123.4	-	1	1827	c.807G>T	c.(805-807)aaG>aaT	p.K269N		NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1	269	Ser-rich.				fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		AGGACTGGCTCTTGCTGCGAG	0.637000											OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	17	46					1.99824e-07	2.47795e-07	0.004990	1	0
DMD	1756	broad.mit.edu	37	X	32632420	32632420	+	Splice_Site	SNP	C	C	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chrX:32632420C>G	ENST00000357033.4	-	12	1688	c.1482_splice	c.e12+1	p.K494_splice	DMD_ENST00000288447.4_Splice_Site_p.K486_splice|DMD_ENST00000378677.2_Splice_Site_p.K490_splice	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	494					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				ATACACCTACCTTATGTTGTT	0.398000													14	34					0	0	0.004007	0	0
MAP2	4133	broad.mit.edu	37	2	210558660	210558660	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr2:210558660G>C	ENST00000360351.4	+	7	2272	c.1766G>C	c.(1765-1767)gGc>gCc	p.G589A	MAP2_ENST00000361559.4_Intron|MAP2_ENST00000392194.1_Intron|MAP2_ENST00000447185.1_Missense_Mutation_p.G585A|MAP2_ENST00000199940.6_Intron	NM_002374.3	NP_002365.3	P11137	MAP2_HUMAN	microtubule-associated protein 2	589					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	ATTGAGCCAGGCAGTGATTAC	0.388000													23	72					0	0	0.002780	0	0
MAMLD1	10046	broad.mit.edu	37	X	149638775	149638775	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chrX:149638775G>T	ENST00000370401.2	+	4	1240	c.930G>T	c.(928-930)ttG>ttT	p.L310F	MAMLD1_ENST00000262858.5_Missense_Mutation_p.L310F|MAMLD1_ENST00000432680.2_Missense_Mutation_p.L285F|MAMLD1_ENST00000426613.2_Missense_Mutation_p.L285F			Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	310					male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37	Acute lymphoblastic leukemia(192;6.56e-05)					TGAAGGCGTTGGCAGCCAGCA	0.637000													14	41					4.36969e-10	5.89727e-10	0.001855	1	0
CSMD2	114784	broad.mit.edu	37	1	34286079	34286079	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:34286079G>T	ENST00000373381.4	-	8	1366	c.1190C>A	c.(1189-1191)tCg>tAg	p.S397*		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	357	Sushi 2.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CCTGAAATCCGAGCCTAGTCT	0.488000													47	113					1.11015e-26	2.07994e-26	0.003610	1	0
FREM1	158326	broad.mit.edu	37	9	14737481	14737481	+	Nonsense_Mutation	SNP	A	A	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr9:14737481A>T	ENST00000380881.4	-	38	7271	c.6456T>A	c.(6454-6456)tgT>tgA	p.C2152*	FREM1_ENST00000422223.2_Nonsense_Mutation_p.C2151*|FREM1_ENST00000380894.1_Nonsense_Mutation_p.C687*|FREM1_ENST00000380880.3_Nonsense_Mutation_p.C2151*			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	2151	C-type lectin.				cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		GAACCAAAACACAGCTCTTTC	0.473000													28	9					0	0	0.005443	0	0
NHLRC2	374354	broad.mit.edu	37	10	115668189	115668189	+	Missense_Mutation	SNP	A	A	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr10:115668189A>T	ENST00000369301.3	+	11	2287	c.2075A>T	c.(2074-2076)gAc>gTc	p.D692V		NM_198514.3	NP_940916.2	Q8NBF2	NHLC2_HUMAN	NHL repeat containing 2	692					cell redox homeostasis					breast(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	15				Epithelial(162;0.017)|all cancers(201;0.0187)		TGTAGTGCAGACAGCAGTGCT	0.393000													91	60					0	0	0.003610	0	0
MYLK4	340156	broad.mit.edu	37	6	2679576	2679576	+	Silent	SNP	C	C	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr6:2679576C>G	ENST00000274643.7	-	9	1167	c.825G>C	c.(823-825)gtG>gtC	p.V275V	MYLK4_ENST00000268446.5_Silent_p.V275V	NM_001012418.3	NP_001012418.2	Q86YV6	MYLK4_HUMAN	myosin light chain kinase family, member 4	275	Protein kinase.						ATP binding|protein serine/threonine kinase activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(2)|skin(1)	23	Ovarian(93;0.0412)	all_hematologic(90;0.0897)				AATCATAGTTCACAACTTCAG	0.468000													30	302					0	0	0.003610	0	0
RNASE2	6036	broad.mit.edu	37	14	21423997	21423997	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr14:21423997G>T	ENST00000304625.2	+	2	157	c.67G>T	c.(67-69)Ggc>Tgc	p.G23C		NM_002934.2	NP_002925.1	P10153	RNAS2_HUMAN	ribonuclease, RNase A family, 2 (liver, eosinophil-derived neurotoxin)	23					chemotaxis|RNA catabolic process	extracellular region|lysosome	nucleic acid binding|pancreatic ribonuclease activity			breast(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|stomach(1)	17	all_cancers(95;0.00381)		OV - Ovarian serous cystadenocarcinoma(11;6.3e-09)|Epithelial(56;1.42e-07)|all cancers(55;5.48e-07)	GBM - Glioblastoma multiforme(265;0.0187)		GGCTGTGGAGGGCTCACTCCA	0.463000													17	51					2.5808e-16	4.1559e-16	0.006122	1	0
PLCB1	23236	broad.mit.edu	37	20	8665694	8665694	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr20:8665694C>G	ENST00000378641.3	+	10	1453	c.978C>G	c.(976-978)ttC>ttG	p.F326L	PLCB1_ENST00000338037.6_Missense_Mutation_p.F326L|PLCB1_ENST00000378637.2_Missense_Mutation_p.F326L	NM_182734.1	NP_877398.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	326	PI-PLC X-box.				activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						CTCACTATTTCATTAATTCCT	0.413000													51	95					0	0	0.003610	0	0
PCDHGA2	56113	broad.mit.edu	37	5	140718777	140718777	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr5:140718777G>T	ENST00000394576.2	+	1	239	c.239G>T	c.(238-240)cGa>cTa	p.R80L	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1														breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGAACCCGCGAAGCGGCAGC	0.572000													31	12					5.8336e-16	9.34268e-16	0.003271	1	0
DDX28	55794	broad.mit.edu	37	16	68055793	68055793	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr16:68055793C>A	ENST00000332395.5	-	1	1977	c.1313G>T	c.(1312-1314)gGa>gTa	p.G438V		NM_018380.3	NP_060850.2	Q9NUL7	DDX28_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 28	438	Helicase C-terminal.					mitochondrial nucleoid|nucleus	ATP binding|ATP-dependent helicase activity|RNA binding			central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	13		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0116)|Epithelial(162;0.0474)|all cancers(182;0.233)		CTGGAAGATTCCTACCCTCAT	0.517000													15	30					2.32078e-09	3.08387e-09	0.003163	1	0
PCDHB7	56129	broad.mit.edu	37	5	140553499	140553499	+	Silent	SNP	C	C	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr5:140553499C>G	ENST00000231137.3	+	1	1257	c.1083C>G	c.(1081-1083)ccC>ccG	p.P361P		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN		361	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AAAACTCACCCGAGACAGTCG	0.473000													25	16					0	0	0.003330	0	0
C14orf166B	145497	broad.mit.edu	37	14	77294801	77294801	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr14:77294801C>A	ENST00000216453.5	+	1	127	c.127C>A	c.(127-129)Cct>Act	p.P43T	C14orf166B_ENST00000450042.2_Intron|C14orf166B_ENST00000393774.3_Intron|C14orf166B_ENST00000460005.1_3'UTR			Q0VAA2	CN16B_HUMAN	chromosome 14 open reading frame 166B	0										breast(1)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(1)	18			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0306)		GGCAGCTTCTCCTCAGAAACT	0.547000													10	25					3.07112e-06	3.60426e-06	0.000978	1	0
S1PR1	1901	broad.mit.edu	37	1	101705131	101705131	+	Silent	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:101705131C>A	ENST00000305352.6	+	2	966	c.591C>A	c.(589-591)ctC>ctA	p.L197L		NM_001400.4	NP_001391.2	P21453	S1PR1_HUMAN	sphingosine-1-phosphate receptor 1	197					cell adhesion	integral to membrane	lysosphingolipid and lysophosphatidic acid receptor activity			NS(1)|autonomic_ganglia(1)|breast(1)|large_intestine(7)|lung(23)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	43						TGCTGCCGCTCTACCACAAGC	0.567000											OREG0013620	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	50					6.31663e-08	7.98835e-08	0.003163	1	0
IFIT1B	439996	broad.mit.edu	37	10	91143527	91143527	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr10:91143527G>A	ENST00000371809.3	+	2	537	c.457G>A	c.(457-459)Ggt>Agt	p.G153S	LIPA_ENST00000371837.1_Intron	NM_001010987.2	NP_001010987.1	Q5T764	IFT1B_HUMAN	interferon-induced protein with tetratricopeptide repeats 1B	153							binding			endometrium(2)|large_intestine(3)|lung(8)	13						GGCGAAGTGTGGTGGAAAGAA	0.493000													20	39					0	0	0.001882	0	0
TECRL	253017	broad.mit.edu	37	4	65146797	65146797	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr4:65146797G>T	ENST00000381210.3	-	11	1036	c.926C>A	c.(925-927)tCa>tAa	p.S309*	TECRL_ENST00000507440.1_Nonsense_Mutation_p.S309*	NM_001010874.4	NP_001010874.2	Q5HYJ1	TECRL_HUMAN	trans-2,3-enoyl-CoA reductase-like	309					lipid metabolic process	cytoplasm|integral to membrane	oxidoreductase activity, acting on the CH-CH group of donors	p.S309*(1)		endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1)	47						ACTAATCCATGATCCAATCTG	0.284000													12	50					0.000219431	0.000243131	0.002450	1	0
GRIK1	2897	broad.mit.edu	37	21	30959887	30959887	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr21:30959887G>A	ENST00000399914.1	-	11	2068	c.1547C>T	c.(1546-1548)cCt>cTt	p.P516L	GRIK1_ENST00000389124.2_Missense_Mutation_p.P531L|GRIK1_ENST00000309434.7_Missense_Mutation_p.P533L|GRIK1_ENST00000399907.1_Missense_Mutation_p.P531L|GRIK1_ENST00000389125.3_Missense_Mutation_p.P516L|GRIK1_ENST00000327783.4_Missense_Mutation_p.P531L|GRIK1_ENST00000399913.1_Missense_Mutation_p.P531L|GRIK1_ENST00000535441.1_Missense_Mutation_p.P533L|GRIK1_ENST00000399909.1_Missense_Mutation_p.P516L			P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	531					central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					L-Glutamic Acid(DB00142)|Topiramate(DB00273)	GATGGTAAGAGGAGCCACTGC	0.478000													13	13					0	0	0.002450	0	0
PDIA4	9601	broad.mit.edu	37	7	148701251	148701251	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr7:148701251C>G	ENST00000286091.4	-	10	1805	c.1573G>C	c.(1573-1575)Gga>Cga	p.G525R		NM_004911.4	NP_004902.1	P13667	PDIA4_HUMAN	protein disulfide isomerase family A, member 4	525	Thioredoxin 3.				cell redox homeostasis|glycerol ether metabolic process|protein secretion	endoplasmic reticulum lumen|melanosome	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			large_intestine(6)|lung(15)|ovary(2)|prostate(1)	24	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00385)			TTGACGGGTCCCTTGTTGTTC	0.567000													75	33					0	0	0.003610	0	0
CCDC87	55231	broad.mit.edu	37	11	66358707	66358707	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr11:66358707C>A	ENST00000333861.3	-	1	1847	c.1780G>T	c.(1780-1782)Gtg>Ttg	p.V594L		NM_018219.2	NP_060689.2	Q9NVE4	CCD87_HUMAN	coiled-coil domain containing 87	594										central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						TAGTCATCCACAGACAAGGTG	0.468000													29	80					6.38683e-12	9.14988e-12	0.008361	1	0
DEFB126	81623	broad.mit.edu	37	20	126203	126203	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr20:126203C>A	ENST00000382398.3	+	2	466	c.206C>A	c.(205-207)cCt>cAt	p.P69H	DEFB126_ENST00000542572.1_Intron	NM_030931.2	NP_112193.1	Q9BYW3	DB126_HUMAN	defensin, beta 126	69					defense response to bacterium	extracellular region				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(1)	4		all_cancers(10;7.65e-05)|Lung NSC(37;0.0417)|all_epithelial(17;0.0676)|all_lung(30;0.0713)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.122)			GCTAATTATCCTGTTTTCTGT	0.428000													19	32					6.49762e-13	9.51298e-13	0.006122	1	0
PAX7	5081	broad.mit.edu	37	1	19018324	19018324	+	Silent	SNP	G	G	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:19018324G>C	ENST00000420770.2	+	5	746	c.663G>C	c.(661-663)cgG>cgC	p.R221R	PAX7_ENST00000400661.3_Silent_p.R219R|PAX7_ENST00000375375.3_Silent_p.R221R	NM_001135254.1	NP_001128726.1	P23759	PAX7_HUMAN	paired box 7	221					anti-apoptosis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		PAX7/FOXO1(197)	breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)	31		Colorectal(325;3.46e-05)|all_lung(284;0.000439)|Renal(390;0.000518)|Lung NSC(340;0.000543)|Breast(348;0.00093)|Ovarian(437;0.00768)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00609)|BRCA - Breast invasive adenocarcinoma(304;4.71e-05)|Kidney(64;0.000279)|KIRC - Kidney renal clear cell carcinoma(64;0.00371)|STAD - Stomach adenocarcinoma(196;0.00658)|READ - Rectum adenocarcinoma(331;0.0576)		GACGCAGTCGGACCACATTCA	0.637000			T	FOXO1A	alveolar rhabdomyosarcoma								7	11					0	0	0.001984	0	0
ZNF222	7673	broad.mit.edu	37	19	44536757	44536757	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr19:44536757G>C	ENST00000187879.8	+	4	1092	c.930G>C	c.(928-930)caG>caC	p.Q310H	ZNF223_ENST00000591793.1_Intron|ZNF222_ENST00000391960.3_Missense_Mutation_p.Q350H	NM_013360.2	NP_037492.2	Q9UK12	ZN222_HUMAN	zinc finger protein 222	310					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(7)|lung(6)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20		Prostate(69;0.0435)				ATATGGGACAGAAACCATATA	0.393000													13	190					0	0	0.001855	0	0
TMEM66	51669	broad.mit.edu	37	8	29924381	29924381	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr8:29924381C>A	ENST00000256255.6	-	4	1011	c.754G>T	c.(754-756)Gga>Tga	p.G252*	TMEM66_ENST00000545648.1_Nonsense_Mutation_p.G80*|TMEM66_ENST00000536273.1_Nonsense_Mutation_p.G80*	NM_016127.4	NP_057211.4	Q96BY9	TMM66_HUMAN	transmembrane protein 66	252						integral to membrane				endometrium(2)|large_intestine(1)|lung(11)	14				KIRC - Kidney renal clear cell carcinoma(542;0.0993)|Kidney(114;0.119)		CCTTGTTGTCCTGTAAAAGCA	0.398000													32	55					1.22384e-17	2.02866e-17	0.002836	1	0
MYCBP2	23077	broad.mit.edu	37	13	77671869	77671869	+	Silent	SNP	G	G	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr13:77671869G>C	ENST00000407578.2	-	56	9686	c.9420C>G	c.(9418-9420)acC>acG	p.T3140T	MYCBP2-AS1_ENST00000593933.1_RNA|MYCBP2_ENST00000357337.6_Silent_p.T3102T|MYCBP2_ENST00000544440.2_Silent_p.T3102T	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	3102					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		TTTCAAAAGTGGTCTCGGTTT	0.388000													15	59					0	0	0.003163	0	0
GPRIN3	285513	broad.mit.edu	37	4	90169436	90169436	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr4:90169436G>A	ENST00000333209.3	-	2	2344	c.1826C>T	c.(1825-1827)tCt>tTt	p.S609F		NM_198281.2	NP_938022.2	Q6ZVF9	GRIN3_HUMAN	GPRIN family member 3	609										breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|prostate(2)|skin(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)		CATGGGATCAGATGGCAGGCT	0.582000													26	58					0	0	0.009535	0	0
FLG	2312	broad.mit.edu	37	1	152280800	152280800	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:152280800T>A	ENST00000368799.1	-	3	6597	c.6562A>T	c.(6562-6564)Agt>Tgt	p.S2188C	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2188	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGCTTGCACTTCTGGATCCT	0.532000									Ichthyosis				63	450					0	0	0.003610	0	0
ZEB2	9839	broad.mit.edu	37	2	145157512	145157512	+	Silent	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr2:145157512G>A	ENST00000558170.2	-	8	2426	c.1242C>T	c.(1240-1242)ccC>ccT	p.P414P	ZEB2_ENST00000409487.3_Silent_p.P414P|ZEB2_ENST00000303660.4_Silent_p.P414P|ZEB2_ENST00000539609.3_Silent_p.P390P	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	414						cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		CATTCATAAAGGGACTAGTGC	0.453000													10	45					0	0	0.006214	0	0
CHI3L1	1116	broad.mit.edu	37	1	203149636	203149636	+	Missense_Mutation	SNP	G	G	A	rs138989209		TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:203149636G>A	ENST00000255409.3	-	8	981	c.856C>T	c.(856-858)Cgg>Tgg	p.R286W		NM_001276.2	NP_001267.2	P36222	CH3L1_HUMAN	chitinase 3-like 1 (cartilage glycoprotein-39)	286					chitin catabolic process	extracellular space|proteinaceous extracellular matrix	cation binding|chitinase activity|extracellular matrix structural constituent|sugar binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|skin(1)	18						TTGGTGAACCGGCCTGGAATT	0.582000													13	24					0	0	0.003163	0	0
AHCTF1	25909	broad.mit.edu	37	1	247013073	247013073	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:247013073C>T	ENST00000366508.1	-	33	6476	c.6340G>A	c.(6340-6342)Gag>Aag	p.E2114K	AHCTF1_ENST00000470300.1_5'UTR|AHCTF1_ENST00000391829.2_Missense_Mutation_p.E2079K|AHCTF1_ENST00000326225.3_Missense_Mutation_p.E2088K			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	2079	Necessary for nuclear localization (By similarity).				cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport	condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm	DNA binding			NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			TCTTCCTGCTCATTTGTTTCT	0.433000													19	50					0	0	0.002299	0	0
KNSTRN	90417	broad.mit.edu	37	15	40675101	40675101	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr15:40675101G>A	ENST00000416151.2	+	1	180	c.65G>A	c.(64-66)tGc>tAc	p.C22Y	KNSTRN_ENST00000448395.2_Missense_Mutation_p.C22Y|KNSTRN_ENST00000249776.8_Missense_Mutation_p.C22Y	NM_001142761.1	NP_001136233.1			kinetochore-localized astrin/SPAG5 binding protein																		TCTACAGAGTGCGATTCCCAC	0.572000													10	28					0	0	0.006214	0	0
SPATA2	9825	broad.mit.edu	37	20	48522819	48522819	+	Silent	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr20:48522819G>A	ENST00000422556.1	-	3	1249	c.900C>T	c.(898-900)acC>acT	p.T300T	SPATA2_ENST00000289431.5_Silent_p.T300T|SPATA2_ENST00000543716.1_Silent_p.T163T	NM_001135773.1	NP_001129245.1	Q9UM82	SPAT2_HUMAN	spermatogenesis associated 2	300					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm|nucleus				central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	20	Hepatocellular(150;0.133)		BRCA - Breast invasive adenocarcinoma(9;4.03e-06)			AGCTGGCCATGGTCAGCAGCG	0.652000													52	61					0	0	0.003610	0	0
C18orf25	147339	broad.mit.edu	37	18	43820131	43820131	+	Silent	SNP	A	A	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr18:43820131A>G	ENST00000282059.6	+	3	1250	c.876A>G	c.(874-876)ctA>ctG	p.L292L	C18orf25_ENST00000321319.6_Intron	NM_145055.3	NP_659492.1	Q96B23	CR025_HUMAN	chromosome 18 open reading frame 25	292										central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)	11						GCGGGCTTCTAGAGGAGCTGA	0.522000													18	20					0	0	0.006122	0	0
CUX2	23316	broad.mit.edu	37	12	111746128	111746128	+	Silent	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr12:111746128C>T	ENST00000261726.6	+	13	1303	c.1149C>T	c.(1147-1149)agC>agT	p.S383S		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	383						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						GCACCTGCAGCCTCCCCCAGG	0.647000													48	89					0	0	0.003610	0	0
PPP1R10	5514	broad.mit.edu	37	6	30570015	30570015	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr6:30570015C>A	ENST00000376511.2	-	19	2963	c.2411G>T	c.(2410-2412)gGc>gTc	p.G804V		NM_002714.3	NP_002705.2	Q96QC0	PP1RA_HUMAN	protein phosphatase 1, regulatory subunit 10	804	Gly-rich.				protein import into nucleus|transcription, DNA-dependent	PTW/PP1 phosphatase complex	DNA binding|protein phosphatase inhibitor activity|RNA binding|zinc ion binding			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1)	25						GATGCCACCGCCAGGGCCTTC	0.687000													122	69					5.49952e-60	1.08147e-59	0.003610	1	0
STARD3	10948	broad.mit.edu	37	17	37818598	37818598	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr17:37818598G>T	ENST00000580611.1	+	13	1286	c.1156G>T	c.(1156-1158)Gtg>Ttg	p.V386L	STARD3_ENST00000544210.2_Splice_Site|STARD3_ENST00000394250.4_Splice_Site|STARD3_ENST00000336308.5_Splice_Site			Q14849	STAR3_HUMAN	StAR-related lipid transfer (START) domain containing 3	0	START.				cholesterol metabolic process|mitochondrial transport|steroid biosynthetic process	integral to membrane|late endosome membrane	cholesterol binding|cholesterol transporter activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|prostate(2)|stomach(1)	14	Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;1.04e-44)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			AGATCTCAAGGTGGGGTGCTG	0.592000													3	12					0.00024832	0.000273693	0.009096	1	0
VAV2	7410	broad.mit.edu	37	9	136656922	136656922	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr9:136656922T>A	ENST00000371851.1	-	12	1481	c.1156A>T	c.(1156-1158)Agt>Tgt	p.S386C	VAV2_ENST00000406606.3_Missense_Mutation_p.S386C|VAV2_ENST00000371850.3_Missense_Mutation_p.S391C			P52735	VAV2_HUMAN	vav 2 guanine nucleotide exchange factor	391					angiogenesis|apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	metal ion binding|Rho guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1)	35				OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06)		TCTATAGAACTCTGAAATTCG	0.463000													39	24					0	0	0.009718	0	0
TRMT1L	81627	broad.mit.edu	37	1	185089601	185089601	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:185089601C>A	ENST00000367506.5	-	14	2131	c.1863G>T	c.(1861-1863)aaG>aaT	p.K621N	TRMT1L_ENST00000367504.3_3'UTR|TRMT1L_ENST00000465827.1_5'UTR	NM_001202423.1|NM_030934.4	NP_001189352.1|NP_112196.3	Q7Z2T5	TRM1L_HUMAN	tRNA methyltransferase 1 homolog (S. cerevisiae)-like	621						intracellular	RNA binding|tRNA (guanine-N2-)-methyltransferase activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	21						TCTTTTGCTTCTTGCCTAAAT	0.338000													13	39					0.00010058	0.000112206	0.001368	1	0
NR5A2	2494	broad.mit.edu	37	1	200012940	200012940	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:200012940G>C	ENST00000367362.3	+	3	487	c.241G>C	c.(241-243)Gat>Cat	p.D81H	NR5A2_ENST00000236914.3_Missense_Mutation_p.D35H|NR5A2_ENST00000544748.1_Missense_Mutation_p.D9H	NM_001276464.1|NM_205860.1	NP_001263393.1|NP_995582.1	O00482	NR5A2_HUMAN	nuclear receptor subfamily 5, group A, member 2	81					embryo development|positive regulation of viral genome replication|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	lipid binding|protein binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31	Prostate(682;0.19)					CTATGATGAAGATCTGGAAGA	0.388000													13	16					0	0	0.002450	0	0
PLCXD2	257068	broad.mit.edu	37	3	111564672	111564672	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr3:111564672G>A	ENST00000393934.3	+	4	1441	c.871G>A	c.(871-873)Gca>Aca	p.A291T	PHLDB2_ENST00000393923.3_5'UTR|PLCXD2_ENST00000477665.1_3'UTR	NM_153268.3	NP_695000.1	Q0VAA5	PLCX2_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 2	0					intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity			endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)	17						GTGCAGGCTGGCACTGATCCC	0.463000													20	74					0	0	0.007413	0	0
F8	2157	broad.mit.edu	37	X	154157794	154157794	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chrX:154157794G>T	ENST00000360256.4	-	14	4471	c.4271C>A	c.(4270-4272)aCc>aAc	p.T1424N		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	1424	B.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	TAGGACCCTGGTCAGATATAT	0.418000													44	74					6.07928e-31	1.15522e-30	0.009718	1	0
SLC22A7	10864	broad.mit.edu	37	6	43271882	43271882	+	Missense_Mutation	SNP	T	T	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr6:43271882T>C	ENST00000372585.5	+	10	1587	c.1492T>C	c.(1492-1494)Tat>Cat	p.Y498H	SLC22A7_ENST00000372589.3_Missense_Mutation_p.Y496H|SLC22A7_ENST00000372574.3_Missense_Mutation_p.Y496H	NM_153320.2	NP_696961.2	Q9Y694	S22A7_HUMAN	solute carrier family 22 (organic anion transporter), member 7	498						basolateral plasma membrane|integral to plasma membrane|membrane fraction	anion:anion antiporter activity|sodium-independent organic anion transmembrane transporter activity			NS(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(3)	26			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305)			CAAGCTTACTTATGGGGGGAT	0.662000													11	245					0	0	0.001368	0	0
TNFRSF11A	8792	broad.mit.edu	37	18	60036668	60036668	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr18:60036668G>T	ENST00000586569.1	+	9	1556	c.1518G>T	c.(1516-1518)agG>agT	p.R506S	TNFRSF11A_ENST00000269485.7_Intron	NM_003839.2	NP_003830.1	Q9Y6Q6	TNR11_HUMAN	tumor necrosis factor receptor superfamily, member 11a, NFKB activator	506					adaptive immune response|cell-cell signaling|circadian temperature homeostasis|monocyte chemotaxis|osteoclast differentiation|positive regulation of cell proliferation|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling|positive regulation of fever generation by positive regulation of prostaglandin secretion|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|response to interleukin-1|response to lipopolysaccharide	external side of plasma membrane|integral to membrane	metal ion binding|tumor necrosis factor receptor activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(13)|skin(3)|upper_aerodigestive_tract(1)	29		Colorectal(73;0.188)				GCTCAGCGAGGGCAGGTGCCG	0.627000													13	30					1.49906e-05	1.72615e-05	0.002450	1	0
ABCA12	26154	broad.mit.edu	37	2	215876849	215876849	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr2:215876849G>T	ENST00000272895.7	-	16	2186	c.1967C>A	c.(1966-1968)cCg>cAg	p.P656Q	ABCA12_ENST00000389661.4_Missense_Mutation_p.P338Q	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	656					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		ATCTTTCCTCGGGAAAAACAC	0.388000													28	86					2.12542e-12	3.08406e-12	0.006320	1	0
MOXD1	26002	broad.mit.edu	37	6	132695848	132695848	+	Silent	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr6:132695848G>T	ENST00000367963.3	-	2	451	c.333C>A	c.(331-333)gcC>gcA	p.A111A	MOXD1_ENST00000336749.3_Silent_p.A43A	NM_015529.2	NP_056344.2	Q6UVY6	MOXD1_HUMAN	monooxygenase, DBH-like 1	111	DOMON.				catecholamine metabolic process	endoplasmic reticulum membrane|integral to membrane	copper ion binding|dopamine beta-monooxygenase activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(3)|skin(1)	37	Breast(56;0.0495)			OV - Ovarian serous cystadenocarcinoma(155;0.0132)|GBM - Glioblastoma multiforme(226;0.0191)		TATTTTCCATGGCATATTCTA	0.338000													10	58					2.17888e-05	2.4933e-05	0.006214	1	0
RGPD3	653489	broad.mit.edu	37	2	107073431	107073431	+	Missense_Mutation	SNP	A	A	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr2:107073431A>T	ENST00000409886.3	-	4	488	c.401T>A	c.(400-402)cTa>cAa	p.L134Q	RGPD3_ENST00000304514.7_Missense_Mutation_p.L134Q	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	134					intracellular transport		binding			breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						GTTTACCTTTAGTTTATAAAT	0.338000													57	69					0	0	0.003610	0	0
BPIFC	254240	broad.mit.edu	37	22	32841872	32841872	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr22:32841872G>T	ENST00000397452.1	-	5	596	c.486C>A	c.(484-486)taC>taA	p.Y162*	BPIFC_ENST00000534972.1_Intron|BPIFC_ENST00000432451.2_5'UTR|BPIFC_ENST00000300399.3_Nonsense_Mutation_p.Y162*			Q8NFQ6	BPIL2_HUMAN	BPI fold containing family C	162						extracellular region	lipopolysaccharide binding|phospholipid binding										TCAGTTGGGCGTAGCAATCTT	0.522000													6	44					0.00116845	0.00125945	0.001168	1	0
GALNT10	55568	broad.mit.edu	37	5	153755919	153755919	+	Silent	SNP	G	G	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr5:153755919G>C	ENST00000297107.6	+	5	788	c.651G>C	c.(649-651)ctG>ctC	p.L217L	SAP30L-AS1_ENST00000519727.1_RNA|GALNT10_ENST00000377661.2_Intron|GALNT10_ENST00000425427.2_Silent_p.L217L|GALNT10_ENST00000519544.1_3'UTR	NM_198321.3	NP_938080.1	Q86SR1	GLT10_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 10 (GalNAc-T10)	217	Catalytic subdomain A.					Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.L217L(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	32	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21)	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)			GGGAAGGGCTGATAAGGACCC	0.522000													12	40					0	0	0.000978	0	0
NTRK3	4916	broad.mit.edu	37	15	88679765	88679765	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr15:88679765C>A	ENST00000394480.1	-	8	1019	c.698G>T	c.(697-699)gGc>gTc	p.G233V	NTRK3_ENST00000557856.1_Missense_Mutation_p.G233V|NTRK3_ENST00000355254.2_Missense_Mutation_p.G233V|NTRK3_ENST00000317501.3_Missense_Mutation_p.G233V|NTRK3_ENST00000540489.2_Missense_Mutation_p.G233V|NTRK3_ENST00000558676.1_Missense_Mutation_p.G233V|NTRK3_ENST00000542733.2_Missense_Mutation_p.G135V|NTRK3_ENST00000357724.2_Missense_Mutation_p.G233V|NTRK3_ENST00000360948.2_Missense_Mutation_p.G233V	NM_001243101.1|NM_002530.3	NP_001230030.1|NP_002521.2	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	233	Ig-like C2-type 1.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity		ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			TGATCCAGAGCCATTGCAAGT	0.562000			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)			19	6					0.00887093	0.00930211	0.008871	1	0
TMEM68	137695	broad.mit.edu	37	8	56675394	56675394	+	Missense_Mutation	SNP	T	T	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr8:56675394T>G	ENST00000434581.2	-	3	324	c.125A>C	c.(124-126)aAc>aCc	p.N42T	TMEM68_ENST00000334667.2_Missense_Mutation_p.N42T|TMEM68_ENST00000523073.1_Intron|TMEM68_ENST00000522576.1_Missense_Mutation_p.N42T|TMEM68_ENST00000519784.1_Intron|TMEM68_ENST00000521229.1_Missense_Mutation_p.N42T			Q96MH6	TMM68_HUMAN	transmembrane protein 68	42						integral to membrane	acyltransferase activity			NS(1)|kidney(1)|lung(2)|ovary(1)|skin(1)	6			Epithelial(17;0.000361)|all cancers(17;0.00326)			CAAGAGATAGTTTGCAAAATT	0.348000													81	189					0	0	0.003610	0	0
PPFIBP1	8496	broad.mit.edu	37	12	27787932	27787932	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr12:27787932G>T	ENST00000318304.8	+	4	437	c.154G>T	c.(154-156)Gtg>Ttg	p.V52L	PPFIBP1_ENST00000542629.1_Missense_Mutation_p.V52L|PPFIBP1_ENST00000535047.1_Missense_Mutation_p.V52L|PPFIBP1_ENST00000537927.1_Intron|PPFIBP1_ENST00000228425.6_Missense_Mutation_p.V52L|PPFIBP1_ENST00000545334.1_Missense_Mutation_p.V52L	NM_001198916.1|NM_177444.2	NP_001185845.1|NP_803193.2	Q86W92	LIPB1_HUMAN	PTPRF interacting protein, binding protein 1 (liprin beta 1)	52					cell adhesion	plasma membrane	protein binding		PPFIBP1/ALK(3)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(13)|prostate(2)|skin(1)	32	Lung SC(9;0.0873)					TCTGCACCTTGTGGAAGACCT	0.448000													27	61					3.73148e-12	5.38787e-12	0.007291	1	0
LRRC37A5P	652972	broad.mit.edu	37	9	114371522	114371522	+	RNA	SNP	T	T	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr9:114371522T>A	ENST00000374304.1	-	0	277																											CCATAGCTGCTGGTTTAGCTG	0.493000													45	33					0	0	0.003610	0	0
FBL	2091	broad.mit.edu	37	19	40331129	40331129	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr19:40331129G>C	ENST00000221801.3	-	3	321	c.208C>G	c.(208-210)Cgg>Ggg	p.R70G		NM_001436.3	NP_001427.2	P22087	FBRL_HUMAN	fibrillarin	70	DMA/Gly-rich.				rRNA processing|tRNA processing	box C/D snoRNP complex|Cajal body	methyltransferase activity|protein binding|RNA binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)	9	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)	Renal(1328;0.000518)|Hepatocellular(1079;0.0893)	Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)	GBM - Glioblastoma multiforme(1328;0.000826)|STAD - Stomach adenocarcinoma(1328;0.138)		CCACGACCCCGGTTGCCACCA	0.592000													70	157					0	0	0.003610	0	0
NNT	23530	broad.mit.edu	37	5	43645480	43645480	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr5:43645480G>T	ENST00000264663.5	+	10	1533	c.1312G>T	c.(1312-1314)Gct>Tct	p.A438S	NNT_ENST00000344920.4_Missense_Mutation_p.A438S|NNT_ENST00000512996.2_Missense_Mutation_p.A307S	NM_012343.3	NP_036475.3	Q13423	NNTM_HUMAN	nicotinamide nucleotide transhydrogenase	438					tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain	NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(6;2.58e-06)				NADH(DB00157)	GATTTTCCCAGCTCCCACACC	0.373000													26	43					3.73988e-18	6.26302e-18	0.006320	1	0
SMARCA1	6594	broad.mit.edu	37	X	128633753	128633753	+	Missense_Mutation	SNP	C	C	G	rs35189334		TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chrX:128633753C>G	ENST00000371122.4	-	10	1362	c.1233G>C	c.(1231-1233)aaG>aaC	p.K411N	SMARCA1_ENST00000371123.1_Missense_Mutation_p.K411N|SMARCA1_ENST00000371121.3_Missense_Mutation_p.K411N	NM_003069.3	NP_003060.2	P28370	SMCA1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1	411					ATP-dependent chromatin remodeling|brain development|neuron differentiation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	NURF complex	ATP binding|DNA binding|helicase activity|nucleosome binding|protein binding			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1)	45						TCTTTATTTCCTTTTTAGGTG	0.299000													44	71					0	0	0.003610	0	0
CTNNA2	1496	broad.mit.edu	37	2	80816542	80816542	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr2:80816542C>A	ENST00000466387.1	+	19	2845	c.2121C>A	c.(2119-2121)agC>agA	p.S707R	CTNNA2_ENST00000541047.1_Missense_Mutation_p.S707R|AC008067.2_ENST00000595478.1_RNA|AC008067.2_ENST00000430876.1_RNA|CTNNA2_ENST00000361291.4_Missense_Mutation_p.S741R|CTNNA2_ENST00000343114.3_Missense_Mutation_p.S386R|AC008067.2_ENST00000596887.1_RNA|CTNNA2_ENST00000496558.1_Missense_Mutation_p.S707R|CTNNA2_ENST00000402739.4_Missense_Mutation_p.S707R|CTNNA2_ENST00000540488.1_Missense_Mutation_p.S707R			P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	707					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton	p.G708G(1)|p.S707R(1)		breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						GGGACGACAGCGGCAATGATA	0.478000													18	58					3.32936e-07	4.07354e-07	0.006122	1	0
EXOSC7	23016	broad.mit.edu	37	3	45052814	45052814	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr3:45052814G>T	ENST00000265564.7	+	8	907	c.859G>T	c.(859-861)Gtt>Ttt	p.V287F	CLEC3B_ENST00000490386.1_Intron|EXOSC7_ENST00000461361.1_3'UTR	NM_015004.3	NP_055819.2	Q15024	EXOS7_HUMAN	exosome component 7	287					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA processing	cytosol|exosome (RNase complex)|nucleolus	3'-5'-exoribonuclease activity|protein binding|RNA binding			endometrium(3)|large_intestine(1)|lung(3)	7				BRCA - Breast invasive adenocarcinoma(193;0.00911)|KIRC - Kidney renal clear cell carcinoma(197;0.0509)|Kidney(197;0.064)		GAGACAGAAAGTTGGATTCCT	0.468000													10	4					2.74318e-10	3.74e-10	0.006214	1	0
TFAP2B	7021	broad.mit.edu	37	6	50786601	50786601	+	Translation_Start_Site	SNP	A	A	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr6:50786601A>T	ENST00000263046.4	+	0	163				TFAP2B_ENST00000393655.3_De_novo_Start_OutOfFrame			Q92481	AP2B_HUMAN	transcription factor AP-2 beta (activating enhancer binding protein 2 beta)						nervous system development|positive regulation of transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)	40	Lung NSC(77;0.156)					TGCTCCTCACATGAATGCACT	0.507000													20	39					0	0	0.001882	0	0
PIK3AP1	118788	broad.mit.edu	37	10	98411027	98411027	+	Silent	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr10:98411027C>T	ENST00000339364.5	-	6	1085	c.966G>A	c.(964-966)ctG>ctA	p.L322L	PIK3AP1_ENST00000371110.2_Silent_p.L144L|PIK3AP1_ENST00000468783.1_5'UTR	NM_152309.2	NP_689522.2	Q6ZUJ8	BCAP_HUMAN	phosphoinositide-3-kinase adaptor protein 1	322						cytoplasm|plasma membrane				NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(27)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	52		Colorectal(252;0.0442)		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)		CTTCTTCTTCCAGCTGGTTGA	0.468000													13	23					0	0	0.004007	0	0
ESYT1	23344	broad.mit.edu	37	12	56531325	56531325	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr12:56531325G>A	ENST00000394048.5	+	18	2245	c.1981G>A	c.(1981-1983)Gcc>Acc	p.A661T	ESYT1_ENST00000541590.1_Missense_Mutation_p.A671T|ESYT1_ENST00000267113.4_Missense_Mutation_p.A671T	NM_001184796.1|NM_015292.2	NP_001171725.1|NP_056107.1	Q9BSJ8	ESYT1_HUMAN	extended synaptotagmin-like protein 1	661	C2 3.					integral to membrane				breast(2)|endometrium(2)|large_intestine(4)|lung(10)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	28						GGACCTGATTGCCAAAGACCG	0.547000													56	244					0	0	0.003610	0	0
RRBP1	6238	broad.mit.edu	37	20	17600359	17600359	+	Silent	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr20:17600359C>T	ENST00000377813.1	-	19	3897	c.3594G>A	c.(3592-3594)acG>acA	p.T1198T	RRBP1_ENST00000455029.2_Silent_p.T539T|RRBP1_ENST00000360807.4_Silent_p.T765T|RRBP1_ENST00000246043.4_Silent_p.T1198T|RRBP1_ENST00000377807.2_Silent_p.T765T|RRBP1_ENST00000468428.1_5'UTR			Q9P2E9	RRBP1_HUMAN	ribosome binding protein 1	1198					protein transport|translation|transmembrane transport	integral to endoplasmic reticulum membrane|ribosome	receptor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(6)	28						CCAAATGCGACGTGTGCTCCC	0.652000													10	25					0	0	0.008291	0	0
OR4K17	390436	broad.mit.edu	37	14	20586176	20586176	+	Missense_Mutation	SNP	T	T	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr14:20586176T>G	ENST00000315543.4	+	1	611	c.611T>G	c.(610-612)gTg>gGg	p.V204G		NM_001004715.1	NP_001004715.1	Q8NGC6	OR4KH_HUMAN	olfactory receptor, family 4, subfamily K, member 17	176					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|skin(3)	21	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.77e-06)	GBM - Glioblastoma multiforme(265;0.0144)		GGTCCCAATGTGGTAGACAGC	0.433000													32	62					0	0	0.004289	0	0
TMEM63B	55362	broad.mit.edu	37	6	44115157	44115157	+	Missense_Mutation	SNP	A	A	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr6:44115157A>T	ENST00000259746.9	+	12	1090	c.907A>T	c.(907-909)Agc>Tgc	p.S303C	TMEM63B_ENST00000323267.6_Missense_Mutation_p.S303C			Q5T3F8	TM63B_HUMAN	transmembrane protein 63B	303						integral to membrane	nucleotide binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(2)|prostate(2)|stomach(4)	35	all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0215)			AAACCTCCAGAGCAAGGAGAA	0.612000													147	29					0	0	0.003610	0	0
LRP2	4036	broad.mit.edu	37	2	170063588	170063588	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr2:170063588C>A	ENST00000263816.3	-	39	6927	c.6642G>T	c.(6640-6642)aaG>aaT	p.K2214N		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2214					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	AACGCTCAATCTTTGGTCTCT	0.502000													66	140					3.13296e-38	6.0634e-38	0.003610	1	0
MYLK4	340156	broad.mit.edu	37	6	2679643	2679643	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr6:2679643C>G	ENST00000268446.5	-	8	1054	c.758G>C	c.(757-759)aGa>aCa	p.R253T	MYLK4_ENST00000274643.7_Splice_Site			Q86YV6	MYLK4_HUMAN	myosin light chain kinase family, member 4	253	Protein kinase.						ATP binding|protein serine/threonine kinase activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(2)|skin(1)	23	Ovarian(93;0.0412)	all_hematologic(90;0.0897)				GGGTTTGTATCTGCAATTTAA	0.413000													35	251					0	0	0.009718	0	0
NDST4	64579	broad.mit.edu	37	4	115856447	115856447	+	Missense_Mutation	SNP	A	A	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr4:115856447A>G	ENST00000264363.2	-	6	2129	c.1451T>C	c.(1450-1452)tTc>tCc	p.F484S		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	484	Heparan sulfate N-deacetylase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		TTCTTTGTAGAAAATAGTGTG	0.403000													12	26					0	0	0.001368	0	0
GIGYF2	26058	broad.mit.edu	37	2	233626121	233626121	+	Silent	SNP	T	T	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr2:233626121T>C	ENST00000373566.3	+	8	704	c.507T>C	c.(505-507)ttT>ttC	p.F169F	GIGYF2_ENST00000409480.1_Silent_p.F169F|AC064852.4_ENST00000427571.1_RNA|GIGYF2_ENST00000409196.3_Silent_p.F169F|GIGYF2_ENST00000409547.1_Silent_p.F169F|GIGYF2_ENST00000409451.3_Silent_p.F169F|GIGYF2_ENST00000373563.4_Silent_p.F169F			Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2	169	Arg-rich.				cell death		protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		ACAGACGTTTTGAAAAACCAG	0.353000													21	34					0	0	0.010504	0	0
WDR61	80349	broad.mit.edu	37	15	78577629	78577629	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr15:78577629G>A	ENST00000267973.2	-	10	1073	c.802C>T	c.(802-804)Cac>Tac	p.H268Y	WDR61_ENST00000559332.1_5'UTR|WDR61_ENST00000558459.1_Missense_Mutation_p.H175Y|WDR61_ENST00000558311.1_Missense_Mutation_p.H268Y			Q9GZS3	WDR61_HUMAN	WD repeat domain 61	268							protein binding			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9						AAGAAGGTGTGAACACAAGTC	0.373000													13	31					0	0	0.006122	0	0
MAP3K15	389840	broad.mit.edu	37	X	19392723	19392723	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chrX:19392723C>T	ENST00000338883.4	-	20	2644	c.2645G>A	c.(2644-2646)cGa>cAa	p.R882Q	MAP3K15_ENST00000359173.3_Missense_Mutation_p.R317Q|MAP3K15_ENST00000518578.1_5'UTR|MAP3K15_ENST00000469203.2_Missense_Mutation_p.R714Q	NM_001001671.3	NP_001001671.3	Q6ZN16	M3K15_HUMAN	mitogen-activated protein kinase kinase kinase 15	882	Protein kinase.						ATP binding|MAP kinase kinase kinase activity|metal ion binding			NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	Hepatocellular(33;0.183)					AATGAAGGCTCGGGCTTCAGC	0.527000													20	33					0	0	0.008871	0	0
RP1L1	94137	broad.mit.edu	37	8	10469891	10469891	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr8:10469891C>A	ENST00000382483.3	-	4	1940	c.1717G>T	c.(1717-1719)Gac>Tac	p.D573Y		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	573					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		GAAGCGGGGTCGCCTCCCTCG	0.662000													28	46					1.13719e-10	1.56644e-10	0.008361	1	0
OR5M11	219487	broad.mit.edu	37	11	56310563	56310563	+	Silent	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr11:56310563C>A	ENST00000528616.2	-	1	194	c.171G>T	c.(169-171)acG>acT	p.T57T		NM_001005245.1	NP_001005245.1	Q96RB7	OR5MB_HUMAN	olfactory receptor, family 5, subfamily M, member 11	57					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)	18						AGTACATGGGCGTGTGAAGGC	0.458000													40	70					3.43241e-23	6.20882e-23	0.009718	1	0
COL20A1	57642	broad.mit.edu	37	20	61939938	61939938	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr20:61939938G>T	ENST00000422202.1	+	7	909	c.841G>T	c.(841-843)Gct>Tct	p.A281S	COL20A1_ENST00000358894.6_Missense_Mutation_p.A274S|COL20A1_ENST00000326996.6_Missense_Mutation_p.A274S|COL20A1_ENST00000435874.1_Missense_Mutation_p.A281S			Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	274	VWFA.				cell adhesion	collagen|extracellular space	structural molecule activity			NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					GCAGCCGGCGGCTGGCCTCCG	0.647000													5	13					0.00116845	0.00125945	0.001168	1	0
E2F7	144455	broad.mit.edu	37	12	77421733	77421733	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr12:77421733C>A	ENST00000322886.7	-	11	2305	c.2070G>T	c.(2068-2070)aaG>aaT	p.K690N	E2F7_ENST00000416496.2_Missense_Mutation_p.K690N	NM_203394.2	NP_976328.2	Q96AV8	E2F7_HUMAN	E2F transcription factor 7	690					cell cycle	transcription factor complex	DNA binding|identical protein binding			central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(15)|lung(14)|ovary(3)|upper_aerodigestive_tract(2)	42						CTTTTGAAGGCTTTTCAACAT	0.433000													40	20					1.07121e-22	1.9211e-22	0.006999	1	0
ACSM5	54988	broad.mit.edu	37	16	20435317	20435317	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr16:20435317T>A	ENST00000331849.4	+	6	994	c.847T>A	c.(847-849)Ttc>Atc	p.F283I		NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5	283					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						CTGGACTCTCTTCTCTGCCTG	0.498000													15	104					0	0	0.003163	0	0
LILRP2	79166	broad.mit.edu	37	19	55220781	55220781	+	RNA	SNP	C	C	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr19:55220781C>G	ENST00000413439.1	+	0	808																											ATGTGGGACGCGTGAGCCCCA	0.602000													10	10					0	0	0.006214	0	0
CAPRIN1	4076	broad.mit.edu	37	11	34118027	34118027	+	Splice_Site	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr11:34118027G>T	ENST00000341394.4	+	16	1896	c.1705_splice	c.e16-1	p.V569_splice	CAPRIN1_ENST00000532820.1_Splice_Site_p.V569_splice|CAPRIN1_ENST00000533657.1_3'UTR|CAPRIN1_ENST00000530820.1_Splice_Site_p.V569_splice|CAPRIN1_ENST00000389645.3_Splice_Site_p.V569_splice|CAPRIN1_ENST00000529307.1_Splice_Site_p.V488_splice	NM_005898.4	NP_005889.3	Q14444	CAPR1_HUMAN	cell cycle associated protein 1	569					negative regulation of translation|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis	cytoplasmic mRNA processing body|cytosol|dendrite|integral to plasma membrane|stress granule	protein binding|RNA binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)	18		Acute lymphoblastic leukemia(5;0.00045)|all_hematologic(20;0.0016)				AAATTATAGTGGTTGGCACTT	0.428000													20	33					2.39187e-15	3.76085e-15	0.008871	1	0
SGIP1	84251	broad.mit.edu	37	1	67199493	67199493	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:67199493C>G	ENST00000371037.4	+	21	2038	c.1961C>G	c.(1960-1962)aCt>aGt	p.T654S	SGIP1_ENST00000371036.3_Missense_Mutation_p.T456S|SGIP1_ENST00000435165.2_Missense_Mutation_p.T159S|SGIP1_ENST00000371039.1_Missense_Mutation_p.T457S|SGIP1_ENST00000237247.6_Missense_Mutation_p.T685S|SGIP1_ENST00000371035.3_Missense_Mutation_p.T444S	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1	654					positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	microtubule binding|phospholipid binding|SH3 domain binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						AATTTGATGACTCACCTAAAG	0.358000													29	51					0	0	0.005443	0	0
SLC8A3	6547	broad.mit.edu	37	14	70515701	70515701	+	Nonsense_Mutation	SNP	G	G	T	rs149109491	byFrequency	TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr14:70515701G>T	ENST00000381269.2	-	7	2943	c.2190C>A	c.(2188-2190)taC>taA	p.Y730*	SLC8A3_ENST00000216568.7_Nonsense_Mutation_p.Y101*|SLC8A3_ENST00000356921.2_Nonsense_Mutation_p.Y724*|SLC8A3_ENST00000533541.1_Nonsense_Mutation_p.Y87*|SLC8A3_ENST00000534137.1_Nonsense_Mutation_p.Y727*|SLC8A3_ENST00000528359.1_Nonsense_Mutation_p.Y728*|SLC8A3_ENST00000357887.3_Nonsense_Mutation_p.Y728*|SLC8A3_ENST00000394330.2_Nonsense_Mutation_p.Y87*	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	730					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		AGTGCATGACGTAGTCAAAGC	0.572000													12	32					1.08611e-07	1.35949e-07	0.000978	1	0
SGCD	6444	broad.mit.edu	37	5	156074530	156074530	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr5:156074530C>A	ENST00000435422.3	+	6	1043	c.556C>A	c.(556-558)Ccc>Acc	p.P186T	SGCD_ENST00000517913.1_Missense_Mutation_p.P187T|SGCD_ENST00000337851.4_Missense_Mutation_p.P187T|SGCD_ENST00000447401.1_Missense_Mutation_p.P187T	NM_001128209.1	NP_001121681.1	Q92629	SGCD_HUMAN	sarcoglycan, delta (35kDa dystrophin-associated glycoprotein)	186					cytoskeleton organization|muscle organ development	cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|prostate(1)	24	Renal(175;0.00488)	Medulloblastoma(196;0.0378)|all_neural(177;0.106)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CAGGGCAGACCCCTTCAAAGA	0.413000													3	7					0.004672	0.00492372	0.004672	1	0
NPAP1	23742	broad.mit.edu	37	15	24921181	24921181	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr15:24921181G>T	ENST00000329468.2	+	1	641	c.167G>T	c.(166-168)cGt>cTt	p.R56L		NM_018958.2	NP_061831.2			nuclear pore associated protein 1									p.R56L(1)									CGGAACGCCCGTCGCAGGCCT	0.751000													10	9					1.11149e-13	1.67926e-13	0.008291	1	0
PSME2	5721	broad.mit.edu	37	14	24614455	24614455	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr14:24614455C>A	ENST00000216802.5	-	5	898	c.259G>T	c.(259-261)Gaa>Taa	p.E87*	PSME2_ENST00000471700.2_5'UTR|PSME2_ENST00000560410.1_Nonsense_Mutation_p.E76*	NM_002818.2	NP_002809.2	Q9UL46	PSME2_HUMAN	proteasome (prosome, macropain) activator subunit 2 (PA28 beta)	87					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome activator complex				endometrium(1)|lung(3)|prostate(2)	6				GBM - Glioblastoma multiforme(265;0.00839)		CTCTTACCTTCTTTCTTCTCC	0.458000													15	74					1.5739e-10	2.16392e-10	0.004007	1	0
MYLK4	340156	broad.mit.edu	37	6	2679608	2679608	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr6:2679608C>T	ENST00000274643.7	-	9	1135	c.793G>A	c.(793-795)Gga>Aga	p.G265R	MYLK4_ENST00000268446.5_Missense_Mutation_p.G265R	NM_001012418.3	NP_001012418.2	Q86YV6	MYLK4_HUMAN	myosin light chain kinase family, member 4	265	Protein kinase.						ATP binding|protein serine/threonine kinase activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(2)|skin(1)	23	Ovarian(93;0.0412)	all_hematologic(90;0.0897)				TCTGGGGTTCCAAAGTTCACC	0.438000													31	307					0	0	0.003610	0	0
DDRGK1	65992	broad.mit.edu	37	20	3183950	3183950	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr20:3183950C>A	ENST00000354488.3	-	2	261	c.204G>T	c.(202-204)agG>agT	p.R68S	DDRGK1_ENST00000380201.2_Missense_Mutation_p.R68S	NM_023935.1	NP_076424.1	Q96HY6	DDRGK_HUMAN	DDRGK domain containing 1	68						endoplasmic reticulum	protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|skin(2)|urinary_tract(1)	7						TGCCCAGGTCCCTCCGGCGCC	0.697000													5	4					0.000602214	0.000655377	0.000602	1	0
RYR3	6263	broad.mit.edu	37	15	33878306	33878306	+	Silent	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr15:33878306C>A	ENST00000389232.4	+	16	1847	c.1777C>A	c.(1777-1779)Cgg>Agg	p.R593R	RYR3_ENST00000415757.3_Silent_p.R593R	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	593	B30.2/SPRY 1.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TAAGCACGGGCGGAATCACAA	0.473000													14	11					6.31663e-08	7.98835e-08	0.003163	1	0
C2orf53	339779	broad.mit.edu	37	2	27361043	27361043	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr2:27361043G>C	ENST00000335524.3	-	3	680	c.155C>G	c.(154-156)tCt>tGt	p.S52C		NM_178553.3	NP_848648.2	Q53SZ7	CB053_HUMAN	chromosome 2 open reading frame 53	52	Pro-rich.							p.S52C(1)		cervix(1)|endometrium(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTGAGTGGAAGAGAACGGTGG	0.582000													4	25					0	0	0.009096	0	0
TAB3	257397	broad.mit.edu	37	X	30849675	30849675	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chrX:30849675T>A	ENST00000378933.1	-	8	2185	c.2008A>T	c.(2008-2010)Aca>Tca	p.T670S	TAB3_ENST00000378930.3_Missense_Mutation_p.T670S|TAB3_ENST00000288422.2_Missense_Mutation_p.T670S|TAB3_ENST00000378932.2_Missense_Mutation_p.T642S	NM_152787.3	NP_690000.2	Q8N5C8	TAB3_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 3	670					activation of MAPK activity|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|skin(1)	27						GGACTTTGTGTGGAGCCAGTT	0.458000													8	22					0	0	0.004482	0	0
APC2	10297	broad.mit.edu	37	19	1453291	1453291	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr19:1453291G>T	ENST00000535453.1	+	2	1900	c.187G>T	c.(187-189)Gtg>Ttg	p.V63L	APC2_ENST00000233607.2_Missense_Mutation_p.V63L|APC2_ENST00000238483.4_Missense_Mutation_p.V63L			O95996	APC2_HUMAN	adenomatosis polyposis coli 2	63					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|Wnt receptor signaling pathway	actin filament|catenin complex|cytoplasmic microtubule|Golgi membrane|lamellipodium membrane|perinuclear region of cytoplasm	beta-catenin binding|microtubule binding			breast(3)|cervix(1)|kidney(4)|large_intestine(2)|lung(5)|pancreas(1)|skin(2)	18		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGAGGCCCGAGTGCTGGTGTC	0.687000													2	0					0.00024832	0.000273693	0.009096	1	0
OR4C6	219432	broad.mit.edu	37	11	55433261	55433261	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr11:55433261G>T	ENST00000314259.3	+	1	648	c.619G>T	c.(619-621)Gcc>Tcc	p.A207S		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	207					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						GATGTGTGTGGCCATCTTTCT	0.488000													23	46					9.95505e-16	1.57711e-15	0.002299	1	0
ITPRIP	85450	broad.mit.edu	37	10	106074637	106074637	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr10:106074637G>T	ENST00000278071.2	-	3	1625	c.1173C>A	c.(1171-1173)ttC>ttA	p.F391L	ITPRIP_ENST00000337478.1_Missense_Mutation_p.F391L|ITPRIP_ENST00000358187.2_Missense_Mutation_p.F391L	NM_033397.2	NP_203755.1	Q8IWB1	IPRI_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein	391						plasma membrane				breast(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(9)|upper_aerodigestive_tract(1)	20						TCGTCCTGAGGAAGTGTCGCT	0.617000													15	23					2.48551e-13	3.69426e-13	0.004990	1	0
CUL4B	8450	broad.mit.edu	37	X	119673217	119673217	+	Silent	SNP	T	T	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chrX:119673217T>A	ENST00000371322.5	-	12	1708	c.1647A>T	c.(1645-1647)gtA>gtT	p.V549V	CUL4B_ENST00000336592.6_Silent_p.V554V|CUL4B_ENST00000404115.3_Silent_p.V567V	NM_001079872.1	NP_001073341.1	Q13620	CUL4B_HUMAN	cullin 4B	567					cell cycle|DNA repair|ubiquitin-dependent protein catabolic process	Cul4B-RING ubiquitin ligase complex|nucleus	protein binding|ubiquitin protein ligase binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						GTTTTGAATCTACATACTTAG	0.348000													3	9					0	0	0.004672	0	0
PLEK	5341	broad.mit.edu	37	2	68622925	68622925	+	Missense_Mutation	SNP	A	A	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr2:68622925A>C	ENST00000234313.7	+	9	1209	c.1030A>C	c.(1030-1032)Atg>Ctg	p.M344L		NM_002664.2	NP_002655.2	P08567	PLEK_HUMAN	pleckstrin	344	PH 2.				actin cytoskeleton reorganization|cortical actin cytoskeleton organization|hemopoietic progenitor cell differentiation|inhibition of phospholipase C activity involved in G-protein coupled receptor signaling pathway|integrin-mediated signaling pathway|negative regulation of calcium-mediated signaling|negative regulation of inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|platelet aggregation|positive regulation of actin filament bundle assembly|positive regulation of actin filament depolymerization|positive regulation of inositol-polyphosphate 5-phosphatase activity|positive regulation of integrin activation|positive regulation of platelet activation|protein kinase C signaling cascade|protein secretion by platelet|regulation of cell diameter|ruffle organization|thrombin receptor signaling pathway|vesicle docking involved in exocytosis	cytosol|extracellular region|membrane fraction|ruffle membrane|soluble fraction	phosphatidylinositol-3,4-bisphosphate binding|protein homodimerization activity|protein kinase C binding			autonomic_ganglia(1)|endometrium(3)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	24		Ovarian(717;0.0129)		STAD - Stomach adenocarcinoma(1183;0.00159)|READ - Rectum adenocarcinoma(193;0.0419)		AGCCATCCAGATGGCCTCCCG	0.542000													4	52					0	0	0.009096	0	0
OLFML2B	25903	broad.mit.edu	37	1	161989783	161989783	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:161989783G>T	ENST00000294794.3	-	2	787	c.364C>A	c.(364-366)Cca>Aca	p.P122T	OLFML2B_ENST00000367940.2_Missense_Mutation_p.P122T	NM_015441.1	NP_056256.1	Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B	122										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)			AGGGCCGATGGGGGTGCTACA	0.597000													18	41					2.94398e-08	3.76204e-08	0.007413	1	0
OR2T12	127064	broad.mit.edu	37	1	248458257	248458257	+	Silent	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:248458257G>T	ENST00000317996.1	-	1	623	c.624C>A	c.(622-624)ccC>ccA	p.P208P		NM_001004692.1	NP_001004692.1	Q8NG77	O2T12_HUMAN	olfactory receptor, family 2, subfamily T, member 12	208					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0201)			TGAGGGAAAAGGGGACCAGGA	0.547000													40	52					4.67007e-22	8.3143e-22	0.008740	1	0
SDS	10993	broad.mit.edu	37	12	113837397	113837397	+	Silent	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr12:113837397G>T	ENST00000257549.4	-	2	239	c.117C>A	c.(115-117)tcC>tcA	p.S39S		NM_006843.2	NP_006834.2	P20132	SDHL_HUMAN	serine dehydratase	39					gluconeogenesis|L-serine catabolic process|pyruvate biosynthetic process	cytoplasm	L-serine ammonia-lyase activity|L-threonine ammonia-lyase activity|protein homodimerization activity|pyridoxal phosphate binding			large_intestine(2)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(1)	11					L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	GGATCTTGAAGGAGCCGGAGG	0.627000													11	10					1.61879e-10	2.21734e-10	0.001368	1	0
MPRIP	23164	broad.mit.edu	37	17	17062136	17062136	+	Silent	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr17:17062136G>T	ENST00000395811.5	+	14	1955	c.1866G>T	c.(1864-1866)ctG>ctT	p.L622L	MPRIP_ENST00000444976.1_Silent_p.L584L|MPRIP_ENST00000395804.3_Silent_p.L622L|MPRIP_ENST00000341712.4_Silent_p.L622L	NM_015134.3|NM_201274.3	NP_055949.2|NP_958431.2	Q6WCQ1	MPRIP_HUMAN	myosin phosphatase Rho interacting protein	622	Interaction with RHOA.					cytoplasm|cytoskeleton	actin binding			biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						GCCCAGGGCTGCCTATGAGCG	0.647000													17	34					1.15088e-07	1.43566e-07	0.004007	1	0
LILRA1	11024	broad.mit.edu	37	19	55107848	55107848	+	Missense_Mutation	SNP	A	A	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr19:55107848A>T	ENST00000251372.3	+	7	1335	c.1153A>T	c.(1153-1155)Agt>Tgt	p.S385C	LILRB1_ENST00000448689.1_Intron|LILRA1_ENST00000473156.1_3'UTR|LILRA1_ENST00000453777.1_Intron|LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000396321.2_Intron	NM_006863.1	NP_006854.1	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1	385	Ig-like C2-type 4.				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		ATTCCCTATGAGTCCTGTGAC	0.567000													39	80					0	0	0.007835	0	0
UBR4	23352	broad.mit.edu	37	1	19511665	19511665	+	Silent	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:19511665C>A	ENST00000375267.2	-	15	1869	c.1866G>T	c.(1864-1866)cgG>cgT	p.R622R	UBR4_ENST00000375254.3_Silent_p.R622R|UBR4_ENST00000375217.2_Silent_p.R622R|UBR4_ENST00000375226.2_Silent_p.R622R			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	622	Pro-rich.				interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		GGCTTTTAACCCGAGGAGAGC	0.527000													58	138					1.69475e-38	3.28429e-38	0.003610	1	0
CXorf67	340602	broad.mit.edu	37	X	51150614	51150614	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chrX:51150614G>A	ENST00000342995.2	+	1	848	c.746G>A	c.(745-747)cGc>cAc	p.R249H						chromosome X open reading frame 67											breast(1)|endometrium(4)|large_intestine(1)|lung(11)|ovary(3)|prostate(1)	21						TTTCCACACCGCGCCACTCAT	0.677000													3	13					0	0	0.004672	0	0
SNHG14	104472715	broad.mit.edu	37	15	25339252	25339252	+	RNA	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr15:25339252G>T	ENST00000546682.1	+	0	1110				SNORD116-24_ENST00000384549.1_RNA|SNHG14_ENST00000549804.2_RNA|SNHG14_ENST00000553108.1_RNA	NR_003361.1																						ACTCTATACCGTCATCTTCGT	0.423000													21	98					6.36457e-07	7.69096e-07	0.003954	1	0
CAPN13	92291	broad.mit.edu	37	2	30974119	30974119	+	Splice_Site	SNP	T	T	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr2:30974119T>A	ENST00000295055.8	-	11	1264		c.e11-2		CAPN13_ENST00000534090.2_Splice_Site	NM_144575.2	NP_653176.2	Q6MZZ7	CAN13_HUMAN	calpain 13						proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)					GAGGTCCTCCTGCATCAGAAA	0.522000													18	15					0	0	0.010504	0	0
TUBB2B	347733	broad.mit.edu	37	6	3226399	3226399	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr6:3226399C>T	ENST00000259818.7	-	3	462	c.271G>A	c.(271-273)Gtg>Atg	p.V91M	TUBB2B_ENST00000473006.1_5'UTR	NM_178012.4	NP_821080.1	Q9BVA1	TBB2B_HUMAN	tubulin, beta 2B class IIb	91					'de novo' posttranslational protein folding|microtubule-based movement|neuron migration|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			kidney(2)|large_intestine(5)|lung(1)|prostate(1)|skin(1)	10	Ovarian(93;0.0386)	all_hematologic(90;0.108)				TCACCAAACACGAAATTGTCT	0.532000													27	29					0	0	0.009535	0	0
CDHR2	54825	broad.mit.edu	37	5	176002986	176002986	+	Missense_Mutation	SNP	G	G	C	rs144851381		TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr5:176002986G>C	ENST00000510636.1	+	12	1268	c.994G>C	c.(994-996)Gag>Cag	p.E332Q	CDHR2_ENST00000506348.1_Missense_Mutation_p.E332Q|CDHR2_ENST00000261944.5_Missense_Mutation_p.E332Q	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	332	Cadherin 3.				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						CTACGGGCAGGAGGCCAAGGT	0.577000													8	13					0	0	0.003080	0	0
MED13	9969	broad.mit.edu	37	17	60062082	60062082	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr17:60062082G>C	ENST00000397786.2	-	14	2697	c.2621C>G	c.(2620-2622)tCt>tGt	p.S874C		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	874					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						TCCTATACTAGAACTATTTCC	0.338000													8	59					0	0	0.004482	0	0
GABRQ	55879	broad.mit.edu	37	X	151814002	151814002	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chrX:151814002G>T	ENST00000370306.2	+	3	273	c.253G>T	c.(253-255)Gtg>Ttg	p.V85L		NM_018558.2	NP_061028.2	Q9UN88	GBRT_HUMAN	gamma-aminobutyric acid (GABA) A receptor, theta	85						cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|neurotransmitter transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	52	Acute lymphoblastic leukemia(192;6.56e-05)					CCCTGTGCCTGTGAGAATATC	0.443000													20	49					3.62473e-10	4.91904e-10	0.001882	1	0
PGR	5241	broad.mit.edu	37	11	100998878	100998878	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr11:100998878G>C	ENST00000325455.5	-	1	2377	c.924C>G	c.(922-924)atC>atG	p.I308M	PGR_ENST00000534013.1_Intron|PGR_ENST00000263463.5_Missense_Mutation_p.I308M	NM_000926.4|NM_001202474.1	NP_000917.3|NP_001189403.1	P06401	PRGR_HUMAN	progesterone receptor	308	Modulating, Pro-Rich.				cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)	TGAGAGGCAGGATAGGCACGT	0.687000													6	14					0	0	0.001984	0	0
RPTOR	57521	broad.mit.edu	37	17	78681641	78681641	+	Splice_Site	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr17:78681641G>T	ENST00000306801.3	+	4	711	c.348_splice	c.e4-1	p.A117_splice	RPTOR_ENST00000544334.2_Splice_Site_p.A117_splice|RPTOR_ENST00000537330.1_5'UTR|RPTOR_ENST00000570891.1_Splice_Site_p.A117_splice	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN	regulatory associated protein of MTOR, complex 1	117					cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of protein serine/threonine kinase activity|positive regulation of TOR signaling cascade|TOR signaling cascade	cytosol|lysosome|TORC1 complex	protein complex binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						CCTGCAACAGGCCCGGTACAA	0.512000													6	33					2.0095e-06	2.37928e-06	0.001984	1	0
E2F7	144455	broad.mit.edu	37	12	77449844	77449844	+	Missense_Mutation	SNP	A	A	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr12:77449844A>C	ENST00000322886.7	-	3	395	c.160T>G	c.(160-162)Tta>Gta	p.L54V	E2F7_ENST00000416496.2_Missense_Mutation_p.L54V	NM_203394.2	NP_976328.2	Q96AV8	E2F7_HUMAN	E2F transcription factor 7	54					cell cycle	transcription factor complex	DNA binding|identical protein binding			central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(15)|lung(14)|ovary(3)|upper_aerodigestive_tract(2)	42						TGCTTCGATAAATCAATTGGT	0.358000													28	40					0	0	0.006320	0	0
OAT	4942	broad.mit.edu	37	10	126100674	126100674	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr10:126100674C>A	ENST00000368845.5	-	2	159	c.67G>T	c.(67-69)Gct>Tct	p.A23S	OAT_ENST00000539214.1_Intron	NM_000274.3	NP_000265.1	P04181	OAT_HUMAN	ornithine aminotransferase	23					cellular amino acid biosynthetic process|visual perception	mitochondrial matrix	ornithine-oxo-acid transaminase activity|protein binding|pyridoxal phosphate binding			endometrium(2)|large_intestine(1)|lung(2)	5		all_lung(145;0.0271)|Lung NSC(174;0.0436)|Colorectal(57;0.102)|all_neural(114;0.116)			L-Ornithine(DB00129)|Pyridoxal Phosphate(DB00114)	GTAGCAGAAGCCACTGAAGAA	0.418000													127	62					2.47456e-63	4.87273e-63	0.003610	1	0
FOXRED1	55572	broad.mit.edu	37	11	126144846	126144846	+	Silent	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr11:126144846G>A	ENST00000263578.5	+	5	635	c.561G>A	c.(559-561)ctG>ctA	p.L187L	FOXRED1_ENST00000532125.1_Silent_p.L173L|FOXRED1_ENST00000442061.2_Silent_p.L17L|FOXRED1_ENST00000534011.1_3'UTR	NM_017547.3	NP_060017.1	Q96CU9	FXRD1_HUMAN	FAD-dependent oxidoreductase domain containing 1	187						integral to membrane|mitochondrion	oxidoreductase activity|protein binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(1)	15	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0739)|all_lung(97;0.0798)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0729)		AAGTTTCTCTGATGTCTCCTG	0.527000													5	48					0	0	0.001984	0	0
GLMN	11146	broad.mit.edu	37	1	92730115	92730115	+	Nonsense_Mutation	SNP	A	A	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:92730115A>T	ENST00000370360.3	-	14	1376	c.1295T>A	c.(1294-1296)tTa>tAa	p.L432*	GLMN_ENST00000534881.1_Nonsense_Mutation_p.L418*	NM_053274.2	NP_444504.1	Q92990	GLMN_HUMAN	glomulin, FKBP associated protein	432					muscle cell differentiation|negative regulation of T cell proliferation|positive regulation of cytokine secretion|positive regulation of interleukin-2 biosynthetic process|positive regulation of phosphorylation|regulation of gene expression, epigenetic|vasculogenesis	intracellular	hepatocyte growth factor receptor binding			endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)	17		all_lung(203;0.00827)|Lung NSC(277;0.0295)		all cancers(265;0.00702)|GBM - Glioblastoma multiforme(16;0.0381)|Epithelial(280;0.0989)		TCTTACCTTTAATGACATGTC	0.289000									Multiple Glomus Tumors (of the Skin), Familial				6	25					0	0	0.001168	0	0
PPP1R21	129285	broad.mit.edu	37	2	48725686	48725686	+	Missense_Mutation	SNP	A	A	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr2:48725686A>G	ENST00000294952.8	+	17	1904	c.1747A>G	c.(1747-1749)Atg>Gtg	p.M583V	PPP1R21_ENST00000449090.2_Missense_Mutation_p.M552V|PPP1R21_ENST00000281394.4_Missense_Mutation_p.M583V	NM_001135629.2	NP_001129101.1	Q6ZMI0	KLRAQ_HUMAN	protein phosphatase 1, regulatory subunit 21	583										endometrium(2)|kidney(4)|lung(9)	15						AGAACATTGGATGTTGGAAGC	0.398000													8	35					0	0	0.003080	0	0
ACOT11	26027	broad.mit.edu	37	1	55067020	55067020	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:55067020G>T	ENST00000371316.3	+	9	1045	c.963G>T	c.(961-963)atG>atT	p.M321I	ACOT11_ENST00000481208.1_3'UTR|ACOT11_ENST00000343744.2_Missense_Mutation_p.M321I	NM_015547.3	NP_056362.1	Q8WXI4	ACO11_HUMAN	acyl-CoA thioesterase 11	321	Acyl coenzyme A hydrolase 2.				fatty acid metabolic process|intracellular signal transduction|response to cold		acyl-CoA thioesterase activity|carboxylesterase activity			NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(3)|lung(5)|ovary(1)	17						GTGCCTTTATGACCTTTGTGG	0.657000													29	55					2.2171e-23	4.01542e-23	0.009535	1	0
CASC5	57082	broad.mit.edu	37	15	40917839	40917839	+	Splice_Site	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr15:40917839G>T	ENST00000346991.5	+	11	5844		c.e11+1		CASC5_ENST00000399668.2_Splice_Site			Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5						acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint	acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding			NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		AGATCGGGAGGTGAGCTCTGT	0.338000													17	17					2.23348e-06	2.6381e-06	0.004007	1	0
NOTCH4	4855	broad.mit.edu	37	6	32168650	32168650	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr6:32168650G>T	ENST00000375023.3	-	23	4411	c.4273C>A	c.(4273-4275)Ctg>Atg	p.L1425M		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	1425					cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						GGTCCAGGCAGCAGGGGCTCC	0.652000													5	22					3.59834e-05	4.09524e-05	0.001168	1	0
OR5B3	441608	broad.mit.edu	37	11	58170490	58170490	+	Silent	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr11:58170490G>T	ENST00000309403.2	-	1	392	c.393C>A	c.(391-393)acC>acA	p.T131T		NM_001005469.1	NP_001005469.1	Q8NH48	OR5B3_HUMAN	olfactory receptor, family 5, subfamily B, member 3	131					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(1)	34	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				TCATGGTTGTGGTGTAATGTA	0.478000													22	58					8.10497e-08	1.0206e-07	0.010504	1	0
OR9G1	390174	broad.mit.edu	37	11	56468342	56468342	+	Missense_Mutation	SNP	A	A	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr11:56468342A>C	ENST00000312153.1	+	1	479	c.479A>C	c.(478-480)aAg>aCg	p.K160T		NM_001005213.1	NP_001005213.1			olfactory receptor, family 9, subfamily G, member 1											breast(2)|kidney(1)|lung(25)|stomach(2)|upper_aerodigestive_tract(1)	31						ATCATCACCAAGAAAACGTTT	0.468000													6	113					0	0	0.001168	0	0
IFT140	9742	broad.mit.edu	37	16	1636199	1636199	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr16:1636199C>A	ENST00000426508.2	-	10	1450	c.1087G>T	c.(1087-1089)Gca>Tca	p.A363S	IFT140_ENST00000439987.2_5'UTR|LA16c-395F10.2_ENST00000563162.1_RNA	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN	intraflagellar transport 140 homolog (Chlamydomonas)	363										breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				TTGCCCTCTGCCCCGGGGCTG	0.582000													26	67					3.01185e-09	3.97694e-09	0.003954	1	0
ARHGAP1	392	broad.mit.edu	37	11	46702914	46702914	+	Silent	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr11:46702914G>A	ENST00000311956.4	-	6	562	c.465C>T	c.(463-465)atC>atT	p.I155I		NM_004308.2	NP_004299.1	Q07960	RHG01_HUMAN	Rho GTPase activating protein 1	155	CRAL-TRIO.				Rho protein signal transduction	cytosol|intracellular membrane-bounded organelle	SH3 domain binding|SH3/SH2 adaptor activity			endometrium(1)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	11		Lung NSC(402;1.76e-12)|all_lung(304;1.3e-11)		GBM - Glioblastoma multiforme(35;5.17e-06)|BRCA - Breast invasive adenocarcinoma(625;0.00112)|Lung(87;0.153)		ACAAGGCCTTGATGTTTTTCT	0.522000													35	58					0	0	0.006230	0	0
SLC13A3	64849	broad.mit.edu	37	20	45224895	45224895	+	Translation_Start_Site	SNP	T	T	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr20:45224895T>A	ENST00000435032.1	-	0	732				SLC13A3_ENST00000495082.1_Missense_Mutation_p.K185M|SLC13A3_ENST00000472148.1_Missense_Mutation_p.K185M|SLC13A3_ENST00000279027.4_Missense_Mutation_p.K232M|SLC13A3_ENST00000372121.1_Missense_Mutation_p.R210W|SLC13A3_ENST00000413164.2_Missense_Mutation_p.R210W|SLC13A3_ENST00000396360.1_Missense_Mutation_p.K185M|SLC13A3_ENST00000290317.5_Missense_Mutation_p.K185M			Q8WWT9	S13A3_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3							integral to membrane|plasma membrane	high affinity sodium:dicarboxylate symporter activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(115;0.0122)			Succinic acid(DB00139)	GAGGAAGCCCTTCCAGATGTT	0.562000													18	90					0	0	0.007413	0	0
CSMD3	114788	broad.mit.edu	37	8	113697930	113697930	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr8:113697930C>T	ENST00000297405.5	-	15	2431	c.2187G>A	c.(2185-2187)atG>atA	p.M729I	CSMD3_ENST00000455883.2_Missense_Mutation_p.M625I|CSMD3_ENST00000352409.3_Missense_Mutation_p.M729I|CSMD3_ENST00000343508.3_Missense_Mutation_p.M689I	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	729	CUB 4.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GAACTGTTCCCATTGGTGCAG	0.353000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			26	40					0	0	0.005443	0	0
KCNC2	3747	broad.mit.edu	37	12	75601717	75601717	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr12:75601717C>A	ENST00000549446.1	-	2	727	c.47G>T	c.(46-48)gGc>gTc	p.G16V	KCNC2_ENST00000350228.2_Missense_Mutation_p.G16V|KCNC2_ENST00000393288.2_Missense_Mutation_p.G16V|KCNC2_ENST00000341669.3_Missense_Mutation_p.G16V|KCNC2_ENST00000298972.1_Missense_Mutation_p.G16V|KCNC2_ENST00000548513.1_Missense_Mutation_p.G16V|KCNC2_ENST00000550433.1_Missense_Mutation_p.G16V|KCNC2_ENST00000540018.1_Missense_Mutation_p.G16V	NM_001260497.1|NM_139137.3	NP_001247426.1|NP_631875.1	Q96PR1	KCNC2_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 2	16					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	54						GTGCCGGGTGCCCCCGACATT	0.602000													33	66					6.84511e-11	9.50026e-11	0.003271	1	0
SNX19	399979	broad.mit.edu	37	11	130784380	130784380	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr11:130784380C>A	ENST00000265909.4	-	1	2024	c.1455G>T	c.(1453-1455)aaG>aaT	p.K485N	SNX19_ENST00000533214.1_Missense_Mutation_p.K485N|SNX19_ENST00000539184.1_Intron|SNX19_ENST00000528555.1_Intron|SNX19_ENST00000533318.1_Intron|SNX19_ENST00000530356.1_Intron	NM_014758.2	NP_055573.2	Q92543	SNX19_HUMAN	sorting nexin 19	485					cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding|protein binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(8)|ovary(3)|prostate(1)|skin(6)|urinary_tract(1)	35	all_hematologic(175;0.0597)	Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233)		TGGTGAGATCCTTCTCTAAGC	0.537000													25	57					9.57634e-11	1.32408e-10	0.003330	1	0
XPO7	23039	broad.mit.edu	37	8	21835336	21835336	+	Silent	SNP	T	T	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr8:21835336T>A	ENST00000434536.1	+	8	948	c.846T>A	c.(844-846)ccT>ccA	p.P282P	XPO7_ENST00000433566.4_Silent_p.P274P|XPO7_ENST00000252512.9_Silent_p.P273P			Q9UIA9	XPO7_HUMAN	exportin 7	273				Missing (in Ref. 3; BAA34465).	mRNA transport|protein export from nucleus|transmembrane transport	cytoplasm|nuclear pore	nuclear export signal receptor activity|protein transporter activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724)		ATTCCATCCCTCCTTCATTTT	0.373000													6	22					0	0	0.001168	0	0
NBAS	51594	broad.mit.edu	37	2	15514742	15514742	+	Silent	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr2:15514742C>A	ENST00000281513.5	-	31	3718	c.3693G>T	c.(3691-3693)ctG>ctT	p.L1231L	NBAS_ENST00000441750.1_Silent_p.L1111L	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	1231										NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						CTTGCAAAGGCAGGATCTTTA	0.378000													77	67					2.05912e-35	3.96943e-35	0.003610	1	0
NTNG2	84628	broad.mit.edu	37	9	135102355	135102355	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr9:135102355G>T	ENST00000393229.3	+	4	1753	c.977G>T	c.(976-978)cGg>cTg	p.R326L	NTNG2_ENST00000360670.3_Missense_Mutation_p.R326L|NTNG2_ENST00000393228.4_Missense_Mutation_p.R326L|NTNG2_ENST00000372179.3_Missense_Mutation_p.R326L	NM_032536.2	NP_115925.2	Q96CW9	NTNG2_HUMAN	netrin G2	326	Laminin EGF-like 1.				axonogenesis	anchored to plasma membrane				central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	29				OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)		TTCCGCACCCGGTCCTGGCGG	0.667000													6	7					0.00116845	0.00125945	0.001168	1	0
PRR12	57479	broad.mit.edu	37	19	50098208	50098208	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr19:50098208G>T	ENST00000418929.2	+	4	628	c.616G>T	c.(616-618)Gag>Tag	p.E206*		NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN	proline rich 12	619	Pro-rich.						DNA binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		ACTGGGCTTCGAGCGCCTGGC	0.701000													4	2					1.23904e-05	1.43011e-05	0.000602	1	0
PLG	5340	broad.mit.edu	37	6	161135906	161135906	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr6:161135906G>T	ENST00000308192.9	+	6	691	c.628G>T	c.(628-630)Gac>Tac	p.D210Y		NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	210	Kringle 2.				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	CCAGGCCTGGGACTCTCAGAG	0.468000													4	25					0.00116845	0.00125945	0.001168	1	0
CDH10	1008	broad.mit.edu	37	5	24535323	24535323	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr5:24535323G>T	ENST00000264463.4	-	5	1219	c.712C>A	c.(712-714)Cag>Aag	p.Q238K		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	238	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		TCTTTGGCCTGGATGACCACT	0.463000										HNSCC(23;0.051)			30	40					1.36615e-20	2.38872e-20	0.002836	1	0
SLC6A15	55117	broad.mit.edu	37	12	85260945	85260945	+	Missense_Mutation	SNP	A	A	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr12:85260945A>T	ENST00000266682.5	-	10	2064	c.1523T>A	c.(1522-1524)aTt>aAt	p.I508N	SLC6A15_ENST00000552192.1_Missense_Mutation_p.I401N|SLC6A15_ENST00000309283.7_Missense_Mutation_p.I216N	NM_182767.5	NP_877499.1	Q9H2J7	S6A15_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 15	508					cellular nitrogen compound metabolic process|leucine transport|proline transport	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			kidney(1)|large_intestine(18)|lung(15)|ovary(1)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	44						TATCAGGCCAATACAAAATGC	0.318000													30	12					0	0	0.008361	0	0
MDC1	9656	broad.mit.edu	37	6	30673379	30673379	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr6:30673379G>C	ENST00000376406.3	-	10	4228	c.3581C>G	c.(3580-3582)tCc>tGc	p.S1194C	MDC1-AS1_ENST00000442150.1_RNA|MDC1_ENST00000376405.2_Missense_Mutation_p.S930C	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	1194	Interaction with the PRKDC complex.|Pro-rich.			Missing (in Ref. 2; CAH18685).	cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|kidney(1)|ovary(1)	4						CTTGACAGAGGATCTACTTTT	0.582000								Other conserved DNA damage response genes					59	211					0	0	0.003610	0	0
POM121C	100101267	broad.mit.edu	37	7	75051152	75051152	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr7:75051152C>A	ENST00000453279.2	-	13	3247	c.2383G>T	c.(2383-2385)Ggc>Tgc	p.G795C	POM121C_ENST00000257665.5_Missense_Mutation_p.G1037C	NM_001099415.1	NP_001092885.1	A8CG34	P121C_HUMAN	POM121 transmembrane nucleoporin C	1037	Pore side (Potential).|Thr-rich.				mRNA transport|protein transport|transmembrane transport	endoplasmic reticulum membrane|nuclear membrane|nuclear pore	protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14						GTGGAGCCGCCAAAGGCGGGC	0.667000													31	31					1.26612e-14	1.96758e-14	0.003271	1	0
CC2D2A	57545	broad.mit.edu	37	4	15581639	15581639	+	Nonsense_Mutation	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr4:15581639C>T	ENST00000424120.1	+	30	4074	c.3820C>T	c.(3820-3822)Caa>Taa	p.Q1274*	CC2D2A_ENST00000503292.1_Nonsense_Mutation_p.Q1274*|CC2D2A_ENST00000389652.5_Nonsense_Mutation_p.Q1166*|CC2D2A_ENST00000413206.1_Nonsense_Mutation_p.Q1274*			Q9P2K1	C2D2A_HUMAN	coiled-coil and C2 domain containing 2A	1274					cell projection organization	cilium|microtubule basal body				NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|urinary_tract(2)	32						TGAGAAGTTTCAAGCTGAATG	0.343000													7	74					0	0	0.006214	0	0
PDIA3	2923	broad.mit.edu	37	15	44058156	44058156	+	Missense_Mutation	SNP	A	A	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr15:44058156A>T	ENST00000300289.5	+	7	939	c.791A>T	c.(790-792)tAc>tTc	p.Y264F	PDIA3_ENST00000538521.1_Missense_Mutation_p.Y244F	NM_005313.4	NP_005304.3	P30101	PDIA3_HUMAN	protein disulfide isomerase family A, member 3	264					cell redox homeostasis|glycerol ether metabolic process|post-translational protein modification|protein folding|protein import into nucleus|protein N-linked glycosylation via asparagine|protein retention in ER lumen|signal transduction	endoplasmic reticulum lumen|melanosome	cysteine-type endopeptidase activity|electron carrier activity|phospholipase C activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(2)|skin(1)	17		all_cancers(109;2.61e-15)|all_epithelial(112;1.12e-12)|Lung NSC(122;2.17e-08)|all_lung(180;2.45e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.48e-07)		CTTATTGCTTACTATGATGTG	0.358000													29	15					0	0	0.007291	0	0
TTN	7273	broad.mit.edu	37	2	179529239	179529239	+	Silent	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr2:179529239G>T	ENST00000589042.1	-	168	36452	c.36228C>A	c.(36226-36228)gtC>gtA	p.V12076V	TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589487.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	10223	Ig-like 80.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCTTTTCCGGGACAACTTCTC	0.393000													33	97					6.50621e-10	8.73249e-10	0.002836	1	0
SVOPL	136306	broad.mit.edu	37	7	138312951	138312951	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr7:138312951G>T	ENST00000421622.1	-	7	869	c.661C>A	c.(661-663)Ccc>Acc	p.P221T	SVOPL_ENST00000436657.1_Missense_Mutation_p.P189T|SVOPL_ENST00000288513.5_Missense_Mutation_p.P189T|SVOPL_ENST00000419765.3_Missense_Mutation_p.P341T			Q8N434	SVOPL_HUMAN	SVOP-like	341						integral to membrane	transmembrane transporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	19						TAGTCAGAGGGTGCAAACATG	0.562000													32	18					1.21669e-08	1.58516e-08	0.003271	1	0
TRIM67	440730	broad.mit.edu	37	1	231344799	231344799	+	Silent	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:231344799C>T	ENST00000444294.3	+	8	2778	c.1920C>T	c.(1918-1920)ggC>ggT	p.G640G	TRIM67_ENST00000366652.2_Silent_p.G642G|TRIM67_ENST00000449018.3_Silent_p.G580G|TRIM67_ENST00000366653.5_Silent_p.G642G	NM_001004342.3	NP_001004342.3	Q6ZTA4	TRI67_HUMAN	tripartite motif containing 67	642	B30.2/SPRY.					cytoplasm|cytoskeleton	zinc ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Breast(184;0.0871)	all_cancers(173;0.189)|Prostate(94;0.167)				TGGTGCTGGGCACAGCTGCGT	0.617000													22	105					0	0	0.001882	0	0
IQGAP2	10788	broad.mit.edu	37	5	75893271	75893271	+	Silent	SNP	T	T	A	rs141398992	byFrequency	TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr5:75893271T>A	ENST00000274364.6	+	10	1212	c.915T>A	c.(913-915)gcT>gcA	p.A305A	IQGAP2_ENST00000379730.3_5'UTR	NM_006633.2	NP_006624.2	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	305					small GTPase mediated signal transduction	actin cytoskeleton	actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		CAGGGCAGGCTGCAGTGGACC	0.527000													17	12					0	0	0.004990	0	0
ACE2	59272	broad.mit.edu	37	X	15607532	15607532	+	Missense_Mutation	SNP	C	C	A	rs148771870	byFrequency	TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chrX:15607532C>A	ENST00000427411.1	-	6	847	c.631G>T	c.(631-633)Ggg>Tgg	p.G211W	ACE2_ENST00000252519.3_Missense_Mutation_p.G211W	NM_021804.2	NP_068576.1	Q9BYF1	ACE2_HUMAN	angiotensin I converting enzyme 2	211					angiotensin-mediated drinking behavior|proteolysis|receptor biosynthetic process|regulation of cell proliferation|virion attachment, binding of host cell surface receptor	cell surface|extracellular space|integral to membrane|membrane raft|plasma membrane	carboxypeptidase activity|glycoprotein binding|metallopeptidase activity|peptidyl-dipeptidase activity|viral receptor activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	32	Hepatocellular(33;0.183)				Moexipril(DB00691)	CCATCTACCCCATTTACTTCA	0.408000													59	141					1.77791e-30	3.36542e-30	0.003610	1	0
IL17A	3605	broad.mit.edu	37	6	52054021	52054021	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr6:52054021C>A	ENST00000340057.1	+	3	444	c.399C>A	c.(397-399)ttC>ttA	p.F133L		NM_002190.2	NP_002181.1	Q16552	IL17_HUMAN	interleukin 17A	133					apoptosis|cell-cell signaling|fibroblast activation|immune response|inflammatory response|positive regulation of interleukin-23 production|positive regulation of osteoclast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein glycosylation	extracellular space	cytokine activity			endometrium(3)|large_intestine(2)|lung(8)|prostate(3)|skin(1)	17	Lung NSC(77;0.116)					CCAACTCCTTCCGGCTGGAGA	0.597000													107	17					1.81606e-51	3.55221e-51	0.003610	1	0
DIP2A	23181	broad.mit.edu	37	21	47918578	47918578	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr21:47918578G>A	ENST00000318711.7	+	5	670	c.487G>A	c.(487-489)Gtc>Atc	p.V163I	DIP2A_ENST00000466639.1_Missense_Mutation_p.V163I|DIP2A_ENST00000427143.2_Missense_Mutation_p.V99I|DIP2A_ENST00000417564.2_Missense_Mutation_p.V163I|DIP2A_ENST00000457905.3_Missense_Mutation_p.V163I|DIP2A_ENST00000400274.1_Missense_Mutation_p.V163I|DIP2A_ENST00000435722.3_Missense_Mutation_p.V163I	NM_001146116.1|NM_015151.3	NP_001139588.1|NP_055966.2	Q14689	DIP2A_HUMAN	DIP2 disco-interacting protein 2 homolog A (Drosophila)	163					multicellular organismal development	nucleus	catalytic activity|transcription factor binding			cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		CCATTCCAGCGTCGAGCCCTG	0.617000													22	81					0	0	0.002780	0	0
VPS11	55823	broad.mit.edu	37	11	118940016	118940016	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr11:118940016G>T	ENST00000300793.6	+	3	337	c.295G>T	c.(295-297)Gca>Tca	p.A99S	VPS11_ENST00000527798.1_3'UTR	NM_021729.4	NP_068375.3	Q9H270	VPS11_HUMAN	vacuolar protein sorting 11 homolog (S. cerevisiae)	100					protein transport	endocytic vesicle|HOPS complex|late endosome membrane|lysosomal membrane	nucleotide binding|protein binding|zinc ion binding			autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	29	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.88e-05)		CAATATTCTGGCATCTGTTGG	0.493000													22	44					1.64293e-13	2.46945e-13	0.003330	1	0
UCP1	7350	broad.mit.edu	37	4	141484331	141484331	+	Silent	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr4:141484331G>A	ENST00000262999.3	-	4	636	c.561C>T	c.(559-561)atC>atT	p.I187I		NM_021833.4	NP_068605.1	P25874	UCP1_HUMAN	uncoupling protein 1 (mitochondrial, proton carrier)	187					brown fat cell differentiation|cellular lipid metabolic process|respiratory electron transport chain	integral to membrane|mitochondrial inner membrane	binding			NS(1)|breast(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|stomach(1)	16	all_hematologic(180;0.162)					CTGTACAATTGATGATGACAC	0.338000													23	49					0	0	0.005443	0	0
ACRC	93953	broad.mit.edu	37	X	70824130	70824130	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chrX:70824130C>A	ENST00000373695.1	+	7	1540	c.1003C>A	c.(1003-1005)Cct>Act	p.P335T	ACRC_ENST00000373696.3_Missense_Mutation_p.P335T			Q96QF7	ACRC_HUMAN	acidic repeat containing	335						nucleus				autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1)	54	Renal(35;0.156)					TTTGGAAGTTCCTGTGCCAGC	0.473000													29	58					1.77063e-15	2.78704e-15	0.005443	1	0
PLCH2	9651	broad.mit.edu	37	1	2435853	2435853	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:2435853C>A	ENST00000378486.3	+	22	3726	c.3452C>A	c.(3451-3453)tCc>tAc	p.S1151Y	PLCH2_ENST00000378483.2_3'UTR|PLCH2_ENST00000378488.3_Missense_Mutation_p.S1115Y|PLCH2_ENST00000419816.2_Missense_Mutation_p.S1151Y|PLCH2_ENST00000449969.1_3'UTR	NM_014638.2	NP_055453.2	O75038	PLCH2_HUMAN	phospholipase C, eta 2	1151					intracellular signal transduction|lipid catabolic process	cytoplasm|plasma membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(3)|skin(1)	20	all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2)		AGCATGTCATCCAGCGACACT	0.682000													17	30					6.94344e-10	9.29382e-10	0.006122	1	0
TEKT3	64518	broad.mit.edu	37	17	15212006	15212006	+	Missense_Mutation	SNP	A	A	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr17:15212006A>C	ENST00000395930.1	-	8	1417	c.1231T>G	c.(1231-1233)Ttg>Gtg	p.L411V	TEKT3_ENST00000338696.2_Missense_Mutation_p.L411V	NM_031898.2	NP_114104.1	Q9BXF9	TEKT3_HUMAN	tektin 3	411					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				endometrium(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	23				UCEC - Uterine corpus endometrioid carcinoma (92;0.0877)		TCTCGGCACAACTCAATGTTC	0.572000													10	56					0	0	0.008291	0	0
HACL1	26061	broad.mit.edu	37	3	15628078	15628078	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr3:15628078G>A	ENST00000321169.5	-	6	780	c.413C>T	c.(412-414)tCt>tTt	p.S138F	HACL1_ENST00000456194.2_Missense_Mutation_p.S111F|HACL1_ENST00000457447.2_Intron|HACL1_ENST00000435217.2_Intron|HACL1_ENST00000451445.2_Intron	NM_012260.2	NP_036392.2	Q9UJ83	HACL1_HUMAN	2-hydroxyacyl-CoA lyase 1	138					fatty acid alpha-oxidation	peroxisomal matrix	carbon-carbon lyase activity|identical protein binding|magnesium ion binding|thiamine pyrophosphate binding			NS(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|skin(1)	16						TGGGCGGGCAGAGAACTTGGT	0.358000													24	32					0	0	0.003954	0	0
SIM2	6493	broad.mit.edu	37	21	38092173	38092173	+	Missense_Mutation	SNP	G	G	A	rs149282278	byFrequency	TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr21:38092173G>A	ENST00000290399.6	+	4	1013	c.400G>A	c.(400-402)Gat>Aat	p.D134N	SIM2_ENST00000430056.3_Missense_Mutation_p.D134N	NM_005069.3	NP_005060.1	Q14190	SIM2_HUMAN	single-minded family bHLH transcription factor 2	134	PAS 1.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(2)	16						TTCTGACCACGATGAGATGAC	0.532000													18	70					0	0	0.010504	0	0
RABGAP1	23637	broad.mit.edu	37	9	125751575	125751575	+	Splice_Site	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr9:125751575G>A	ENST00000373647.4	+	5	724		c.e5-1			NM_012197.3	NP_036329.3	Q9Y3P9	RBGP1_HUMAN	RAB GTPase activating protein 1						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						TCTCTGAACAGACTCTTAGAT	0.383000													9	36					0	0	0.008291	0	0
PCDHGA4	56111	broad.mit.edu	37	5	140736964	140736964	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr5:140736964G>T	ENST00000571252.1	+	1	2197	c.2197G>T	c.(2197-2199)Gca>Tca	p.A733S	PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018917.2	NP_061740.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGCAGGTTGGCAGGTGTGCC	0.617000													22	23					7.41877e-09	9.69131e-09	0.001882	1	0
SLC26A7	115111	broad.mit.edu	37	8	92307860	92307860	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr8:92307860G>C	ENST00000276609.3	+	4	645	c.406G>C	c.(406-408)Ggc>Cgc	p.G136R	SLC26A7_ENST00000309536.2_Missense_Mutation_p.G136R|SLC26A7_ENST00000523719.1_Missense_Mutation_p.G136R	NM_052832.2	NP_439897.1	Q8TE54	S26A7_HUMAN	solute carrier family 26 (anion exchanger), member 7	136						basolateral plasma membrane|integral to membrane|recycling endosome membrane	anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50			BRCA - Breast invasive adenocarcinoma(11;0.00802)			AAGCGTGCTGGGCTTATCCGA	0.483000													28	41					0	0	0.004656	0	0
OSBPL11	114885	broad.mit.edu	37	3	125298818	125298818	+	Silent	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr3:125298818C>T	ENST00000296220.5	-	3	589	c.300G>A	c.(298-300)caG>caA	p.Q100Q		NM_022776.4	NP_073613.2	Q9BXB4	OSB11_HUMAN	oxysterol binding protein-like 11	100	PH.				lipid transport		lipid binding			NS(1)|breast(1)|cervix(1)|kidney(2)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	27						CTCTAGGTTTCTGATTTCTAG	0.378000													29	73					0	0	0.007291	0	0
KMT2E	55904	broad.mit.edu	37	7	104753045	104753045	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr7:104753045C>A	ENST00000334877.4	+	26	5250	c.4716C>A	c.(4714-4716)aaC>aaA	p.N1572K	SRPK2_ENST00000493638.1_Intron|KMT2E_ENST00000311117.3_Missense_Mutation_p.N1614K|KMT2E_ENST00000257745.4_Missense_Mutation_p.N1614K					lysine (K)-specific methyltransferase 2E																		CCTCTCAGAACCCTACCATTC	0.547000													58	28					5.52965e-18	9.22866e-18	0.003610	1	0
DLC1	10395	broad.mit.edu	37	8	12956865	12956865	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr8:12956865C>A	ENST00000276297.4	-	9	3390	c.2981G>T	c.(2980-2982)aGg>aTg	p.R994M	DLC1_ENST00000512044.2_Missense_Mutation_p.R591M|DLC1_ENST00000358919.2_Missense_Mutation_p.R557M|DLC1_ENST00000520226.1_Missense_Mutation_p.R483M	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1	994					actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						CCTGTTGGACCTGGTTAGGGA	0.562000													12	19					4.84862e-15	7.57499e-15	0.000978	1	0
TSHZ2	128553	broad.mit.edu	37	20	51871229	51871229	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr20:51871229C>A	ENST00000371497.5	+	2	2119	c.1232C>A	c.(1231-1233)tCt>tAt	p.S411Y	TSHZ2_ENST00000329613.6_Missense_Mutation_p.S408Y|TSHZ2_ENST00000603338.2_Missense_Mutation_p.S408Y	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	411					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			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)			GTCACCAGCTCTGCCTCCAAG	0.527000													100	123					5.84261e-33	1.11603e-32	0.003610	1	0
EXOSC7	23016	broad.mit.edu	37	3	45052818	45052818	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr3:45052818G>T	ENST00000265564.7	+	8	911	c.863G>T	c.(862-864)gGa>gTa	p.G288V	CLEC3B_ENST00000490386.1_Intron|EXOSC7_ENST00000461361.1_3'UTR	NM_015004.3	NP_055819.2	Q15024	EXOS7_HUMAN	exosome component 7	288					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA processing	cytosol|exosome (RNase complex)|nucleolus	3'-5'-exoribonuclease activity|protein binding|RNA binding			endometrium(3)|large_intestine(1)|lung(3)	7				BRCA - Breast invasive adenocarcinoma(193;0.00911)|KIRC - Kidney renal clear cell carcinoma(197;0.0509)|Kidney(197;0.064)		CAGAAAGTTGGATTCCTGGGA	0.453000													11	3					6.42651e-13	9.43713e-13	0.000978	1	0
TIMM17B	10245	broad.mit.edu	37	X	48754135	48754135	+	Nonsense_Mutation	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chrX:48754135C>T	ENST00000396779.3	-	3	181	c.33G>A	c.(31-33)tgG>tgA	p.W11*	TIMM17B_ENST00000466995.1_5'UTR|TIMM17B_ENST00000376582.3_Nonsense_Mutation_p.W11*	NM_001167947.1	NP_001161419.1	O60830	TI17B_HUMAN	translocase of inner mitochondrial membrane 17 homolog B (yeast)	11					protein targeting to mitochondrion	integral to membrane|microtubule cytoskeleton|mitochondrial inner membrane presequence translocase complex	P-P-bond-hydrolysis-driven protein transmembrane transporter activity			kidney(1)|large_intestine(1)|lung(3)|ovary(1)	6						CCACAATTCGCCATGGGCTGC	0.557000													11	37					0	0	0.001368	0	0
OR10Z1	128368	broad.mit.edu	37	1	158576318	158576318	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:158576318G>C	ENST00000361284.1	+	1	90	c.90G>C	c.(88-90)ttG>ttC	p.L30F		NM_001004478.1	NP_001004478.1	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z, member 1	30					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37	all_hematologic(112;0.0378)					TCTTTGCCTTGTTCCTCTCTC	0.502000													36	73					0	0	0.003755	0	0
GALNT13	114805	broad.mit.edu	37	2	155115595	155115595	+	Missense_Mutation	SNP	A	A	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr2:155115595A>T	ENST00000392825.3	+	8	1486	c.919A>T	c.(919-921)Act>Tct	p.T307S	GALNT13_ENST00000487047.1_3'UTR|GALNT13_ENST00000409237.1_Missense_Mutation_p.T307S	NM_052917.2	NP_443149.2	Q8IUC8	GLT13_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)	307	Catalytic subdomain B.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						AGAGATAGGAACTTACGATGC	0.343000													15	101					0	0	0.006122	0	0
MRPL21	219927	broad.mit.edu	37	11	68660871	68660871	+	Splice_Site	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr11:68660871C>A	ENST00000567045.1	-	5	429	c.194_splice	c.e5+1	p.G65_splice	MRPL21_ENST00000450904.2_Splice_Site_p.G65_splice|MRPL21_ENST00000362034.2_Splice_Site_p.G150_splice			Q7Z2W9	RM21_HUMAN	mitochondrial ribosomal protein L21	150					translation	mitochondrion|ribosome	RNA binding|structural constituent of ribosome			large_intestine(1)|lung(6)|prostate(1)	8			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			CAGCCATTACCCGAGGAGTGG	0.532000													16	28					5.45024e-15	8.50585e-15	0.003330	1	0
HSPG2	3339	broad.mit.edu	37	1	22181236	22181236	+	Silent	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:22181236C>A	ENST00000374695.3	-	49	6235	c.6156G>T	c.(6154-6156)ccG>ccT	p.P2052P	HSPG2_ENST00000430507.1_Silent_p.P2P	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	2052	Ig-like C2-type 6.			P -> G (in Ref. 1; AAA52700).	angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	CAATCTTGACCGGCGGTGGGC	0.637000													3	10					6.4e-05	7.20711e-05	0.004672	1	0
OR4K17	390436	broad.mit.edu	37	14	20586177	20586177	+	Silent	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr14:20586177G>T	ENST00000315543.4	+	1	612	c.612G>T	c.(610-612)gtG>gtT	p.V204V		NM_001004715.1	NP_001004715.1	Q8NGC6	OR4KH_HUMAN	olfactory receptor, family 4, subfamily K, member 17	176					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|skin(3)	21	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.77e-06)	GBM - Glioblastoma multiforme(265;0.0144)		GTCCCAATGTGGTAGACAGCA	0.428000													35	61					8.69298e-16	1.38465e-15	0.006999	1	0
PCDHA11	56138	broad.mit.edu	37	5	140250979	140250979	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr5:140250979C>A	ENST00000398640.2	+	1	2291	c.2291C>A	c.(2290-2292)cCt>cAt	p.P764H	PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000307360.5_Intron	NM_018902.3	NP_061725.1														breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGGGCCCACCTAAGACGGAC	0.637000													11	3					3.07112e-06	3.60426e-06	0.000978	1	0
AK5	26289	broad.mit.edu	37	1	77876672	77876672	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:77876672G>C	ENST00000344720.5	+	7	1846	c.820G>C	c.(820-822)Gcc>Ccc	p.A274P	AK5_ENST00000354567.2_Missense_Mutation_p.A300P	NM_012093.3	NP_036225.2	Q9Y6K8	KAD5_HUMAN	adenylate kinase 5	300					ADP biosynthetic process|ATP metabolic process|dADP biosynthetic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine ribonucleotide biosynthetic process|signal transduction	centrosome|cytosol	adenylate kinase activity|ATP binding|cAMP-dependent protein kinase regulator activity|nucleoside kinase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|prostate(1)|skin(2)|stomach(1)	40						CCAGTTTGATGCCGACCGCGA	0.418000													3	32					0	0	0.009096	0	0
F5	2153	broad.mit.edu	37	1	169529962	169529962	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:169529962T>A	ENST00000367796.3	-	4	617	c.416A>T	c.(415-417)gAc>gTc	p.D139V	F5_ENST00000546081.1_Missense_Mutation_p.D2V|F5_ENST00000367797.3_Missense_Mutation_p.D139V			P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	139	F5/8 type A 1.|Plastocyanin-like 1.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	CACAGCGTCGTCCATCTTCTC	0.522000													26	45					0	0	0.005443	0	0
QDPR	5860	broad.mit.edu	37	4	17488827	17488827	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr4:17488827C>A	ENST00000281243.5	-	7	841	c.662G>T	c.(661-663)cGa>cTa	p.R221L	QDPR_ENST00000508623.1_Missense_Mutation_p.D157Y|QDPR_ENST00000513615.1_3'UTR|QDPR_ENST00000428702.2_Missense_Mutation_p.R190L	NM_000320.2	NP_000311.2	P09417	DHPR_HUMAN	quinoid dihydropteridine reductase	221					dihydrobiopterin metabolic process|L-phenylalanine catabolic process|tetrahydrobiopterin biosynthetic process	cytosol	6,7-dihydropteridine reductase activity|binding|electron carrier activity			autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	13					NADH(DB00157)	TGAGCTCGGTCGGTTTTTCCC	0.458000													12	31					0.000151284	0.000168005	0.001855	1	0
KCTD7	154881	broad.mit.edu	37	7	66270381	66270381	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr7:66270381C>G	ENST00000380828.2	+	10	1349	c.1195C>G	c.(1195-1197)Ctg>Gtg	p.L399V	RABGEF1_ENST00000284957.5_Missense_Mutation_p.L359V|RABGEF1_ENST00000437078.2_Missense_Mutation_p.L373V|RABGEF1_ENST00000450873.2_Missense_Mutation_p.L359V|RABGEF1_ENST00000439720.2_Missense_Mutation_p.L372V|KCTD7_ENST00000451741.2_Missense_Mutation_p.L359V|KCTD7_ENST00000510829.2_Missense_Mutation_p.L359V|RABGEF1_ENST00000484547.2_3'UTR			Q96MP8	KCTD7_HUMAN	potassium channel tetramerization domain containing 7	0						voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|urinary_tract(1)	16						TTTCACCAATCTGGTGAGTAA	0.512000													20	46					0	0	0.003954	0	0
ZBTB10	65986	broad.mit.edu	37	8	81431522	81431522	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr8:81431522G>T	ENST00000430430.1	+	7	3154	c.2375G>T	c.(2374-2376)aGt>aTt	p.S792I	ZBTB10_ENST00000455036.3_Missense_Mutation_p.S792I|ZBTB10_ENST00000426744.2_Missense_Mutation_p.S768I|ZBTB10_ENST00000379091.4_Missense_Mutation_p.S500I	NM_001277145.1	NP_001264074.1	Q96DT7	ZBT10_HUMAN	zinc finger and BTB domain containing 10	792					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(4)	20	all_cancers(3;1.68e-09)|all_epithelial(4;5.13e-11)|Lung NSC(7;1.75e-07)|all_lung(9;7.38e-07)|Breast(3;2.96e-06)		BRCA - Breast invasive adenocarcinoma(6;0.000434)|Epithelial(68;0.00486)|all cancers(69;0.0296)			TTAGCAGCCAGTGTTGGAATA	0.398000													12	29					7.93312e-07	9.54708e-07	0.002450	1	0
ENOX2	10495	broad.mit.edu	37	X	129759372	129759372	+	Silent	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chrX:129759372G>A	ENST00000338144.3	-	16	2166	c.1749C>T	c.(1747-1749)acC>acT	p.T583T	ENOX2_ENST00000370935.1_Silent_p.T554T|ENOX2_ENST00000370927.1_Silent_p.T583T|ENOX2_ENST00000394363.1_Silent_p.T554T	NM_182314.1	NP_872114.1	Q16206	ENOX2_HUMAN	ecto-NOX disulfide-thiol exchanger 2	583					cell growth|electron transport chain|regulation of growth|transport|ultradian rhythm	cytosol|external side of plasma membrane|extracellular space	nucleic acid binding|nucleotide binding|protein disulfide oxidoreductase activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(3)	33						CCTGCTTGAAGGTATGCTGGA	0.468000													10	27					0	0	0.008291	0	0
IPO7	10527	broad.mit.edu	37	11	9431591	9431591	+	Missense_Mutation	SNP	T	T	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr11:9431591T>C	ENST00000379719.3	+	4	579	c.437T>C	c.(436-438)cTa>cCa	p.L146P		NM_006391.2	NP_006382.1	O95373	IPO7_HUMAN	importin 7	146					interspecies interaction between organisms|signal transduction	Golgi apparatus|nuclear pore|soluble fraction	protein transporter activity|Ran GTPase binding|small GTPase regulator activity			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217)		GCTTGTTGGCTAGGAATTCTT	0.378000													33	28					0	0	0.003755	0	0
KCNJ12	3768	broad.mit.edu	37	17	21318690	21318690	+	Silent	SNP	C	C	T	rs138321747	by1000genomes	TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr17:21318690C>T	ENST00000583088.1	+	3	931	c.36C>T	c.(34-36)atC>atT	p.I12I	KCNJ12_ENST00000331718.5_Silent_p.I12I	NM_021012.4	NP_066292.2			potassium inwardly-rectifying channel, subfamily J, member 12											NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)		CCTACAGCATCGTGTCATCGG	0.711000										Prostate(3;0.18)			5	19					0	0	0.001984	0	0
PSG2	5670	broad.mit.edu	37	19	43585324	43585324	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr19:43585324C>T	ENST00000406487.1	-	2	237	c.139G>A	c.(139-141)Gag>Aag	p.E47K		NM_031246.3	NP_112536.2	P11465	PSG2_HUMAN	pregnancy specific beta-1-glycoprotein 2	47	Ig-like V-type.				cell migration|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2)	49		Prostate(69;0.00682)				TCCTTCCCCTCGGAAACTTTT	0.483000													55	127					0	0	0.003610	0	0
NOX3	50508	broad.mit.edu	37	6	155743851	155743851	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr6:155743851G>C	ENST00000159060.2	-	10	1387	c.1285C>G	c.(1285-1287)Cag>Gag	p.Q429E		NM_015718.2	NP_056533.1	Q9HBY0	NOX3_HUMAN	NADPH oxidase 3	429							electron carrier activity|flavin adenine dinucleotide binding|iron ion binding			cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	45		Breast(66;0.0183)		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)		AGTGGGGTCTGTGCCTCACTG	0.463000													31	36					0	0	0.009535	0	0
EGFLAM	133584	broad.mit.edu	37	5	38451501	38451501	+	Silent	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr5:38451501C>A	ENST00000322350.5	+	19	2974	c.2628C>A	c.(2626-2628)ccC>ccA	p.P876P	EGFLAM_ENST00000336740.6_Silent_p.P642P|EGFLAM_ENST00000506135.1_Silent_p.P19P|EGFLAM_ENST00000354891.3_Silent_p.P884P|EGFLAM_ENST00000397210.3_Silent_p.P19P|EGFLAM_ENST00000397202.2_Silent_p.P242P|EGFLAM_ENST00000514476.1_Silent_p.P19P	NM_152403.3	NP_689616.2	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	884	Laminin G-like 3.					cell junction|proteinaceous extracellular matrix|synapse				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					GAGACAGCCCCATGAGACCCA	0.522000													57	70					3.4597e-24	6.33631e-24	0.003610	1	0
DEF6	50619	broad.mit.edu	37	6	35277470	35277470	+	Silent	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr6:35277470G>T	ENST00000316637.5	+	2	125	c.120G>T	c.(118-120)acG>acT	p.T40T	DEF6_ENST00000542066.1_5'UTR	NM_022047.3	NP_071330.3	Q9H4E7	DEFI6_HUMAN	differentially expressed in FDCP 6 homolog (mouse)	40						cytoplasm|nucleus|plasma membrane				cervix(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	15						ACCTGTACACGGTCCTGCACA	0.587000													66	31					5.98616e-33	1.14196e-32	0.003610	1	0
LPPR4	9890	broad.mit.edu	37	1	99772228	99772228	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:99772228C>A	ENST00000370185.3	+	7	2451	c.1954C>A	c.(1954-1956)Cct>Act	p.P652T	LPPR4_ENST00000457765.1_Missense_Mutation_p.P594T|LPPR4_ENST00000370184.1_Missense_Mutation_p.P494T	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		652							phosphatidate phosphatase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		GTGGAAAGCCCCTGAAAAGGG	0.532000													7	16					5.18039e-06	6.05549e-06	0.003080	1	0
HLA-DQB1	3119	broad.mit.edu	37	6	32629998	32629998	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr6:32629998G>C	ENST00000399084.1	-	4	585	c.407C>G	c.(406-408)tCc>tGc	p.S136C	HLA-DQB1_ENST00000434651.2_Missense_Mutation_p.S136C|HLA-DQB1_ENST00000399082.3_Missense_Mutation_p.S46C|HLA-DQB1_ENST00000374943.4_Missense_Mutation_p.S136C|XXbac-BPG254F23.6_ENST00000443574.1_RNA|HLA-DQB1_ENST00000399079.3_Missense_Mutation_p.S136C			P01920	DQB1_HUMAN	major histocompatibility complex, class II, DQ beta 1	136	Beta-2.|Ig-like C1-type.				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endoplasmic reticulum membrane|endosome membrane|Golgi apparatus|integral to membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity			breast(1)|large_intestine(1)|lung(1)|pancreas(1)	4					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CTCTGTCCTGGATGGGGAGAT	0.532000									T-cell Lymphoma, (Cutaneous) , Familial Clustering of;Sjgren syndrome;Melanoma, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia				19	59					0	0	0.001882	0	0
TRAF3IP1	26146	broad.mit.edu	37	2	239307493	239307493	+	Missense_Mutation	SNP	A	A	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr2:239307493A>T	ENST00000373327.4	+	17	2231	c.2009A>T	c.(2008-2010)aAc>aTc	p.N670I	TRAF3IP1_ENST00000391994.2_Missense_Mutation_p.N670I|TRAF3IP1_ENST00000391993.3_Missense_Mutation_p.N604I	NM_015650.3	NP_056465.2	Q8TDR0	MIPT3_HUMAN	TNF receptor-associated factor 3 interacting protein 1	670	DISC1-interaction domain.					cytoplasm|cytoskeleton	protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|skin(2)	23		all_epithelial(40;3.22e-10)|Breast(86;0.000523)|Renal(207;0.00571)|Ovarian(221;0.156)|all_hematologic(139;0.182)		Epithelial(121;9.92e-24)|OV - Ovarian serous cystadenocarcinoma(60;7.85e-12)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.01e-07)|BRCA - Breast invasive adenocarcinoma(100;7.72e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0184)		GTGAAGGCCAACATCCTCAAG	0.448000													41	47					0	0	0.006999	0	0
ASXL3	80816	broad.mit.edu	37	18	31319240	31319240	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr18:31319240C>A	ENST00000269197.5	+	11	1872	c.1872C>A	c.(1870-1872)agC>agA	p.S624R		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	624	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						CCTGTACCAGCCTGCCTTCTC	0.483000													21	14					6.44725e-10	8.66128e-10	0.002299	1	0
ITGA10	8515	broad.mit.edu	37	1	145531018	145531018	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:145531018G>T	ENST00000369304.3	+	7	925	c.750G>T	c.(748-750)atG>atT	p.M250I	ITGA10_ENST00000538811.1_Missense_Mutation_p.M119I|ITGA10_ENST00000539363.1_Missense_Mutation_p.M107I|ITGA10_ENST00000481236.1_3'UTR	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN	integrin, alpha 10	250	VWFA.				cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity			NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					AAGCAATAATGGTGGCCTGGT	0.562000													22	24					2.32416e-17	3.81807e-17	0.002299	1	0
NRXN3	9369	broad.mit.edu	37	14	79933641	79933641	+	Silent	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr14:79933641C>A	ENST00000281127.7	+	2	1204	c.325C>A	c.(325-327)Cgg>Agg	p.R109R	NRXN3_ENST00000428277.2_Silent_p.R109R|NRXN3_ENST00000335750.5_Silent_p.R741R|NRXN3_ENST00000554719.1_Silent_p.R741R|NRXN3_ENST00000556003.1_3'UTR|NRXN3_ENST00000557594.1_Silent_p.R109R	NM_138970.3	NP_620426.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	109	Laminin G-like.				angiogenesis|cell adhesion	integral to membrane		p.R109W(1)|p.R741W(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		GCCCAGCACGCGGTCTGACCG	0.577000													22	31					1.10923e-09	1.48201e-09	0.002780	1	0
SLC16A2	6567	broad.mit.edu	37	X	73744385	73744385	+	Missense_Mutation	SNP	A	A	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chrX:73744385A>C	ENST00000276033.5	+	3	1155	c.989A>C	c.(988-990)aAg>aCg	p.K330T	SLC16A2_ENST00000587091.1_Missense_Mutation_p.K256T			P36021	MOT8_HUMAN	solute carrier family 16, member 2 (thyroid hormone transporter)	256						integral to plasma membrane|membrane fraction	monocarboxylic acid transmembrane transporter activity|symporter activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	21					Pyruvic acid(DB00119)	CTGGGGGATAAGATCAAGCTG	0.547000													4	21					0	0	0.009096	0	0
ERC2	26059	broad.mit.edu	37	3	56468732	56468732	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr3:56468732G>A	ENST00000288221.6	-	2	559	c.304C>T	c.(304-306)Ccc>Tcc	p.P102S		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	102						cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding			breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		GCAATATTGGGACTACTCCCC	0.522000													22	56					0	0	0.003330	0	0
SEMA3D	223117	broad.mit.edu	37	7	84644484	84644484	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr7:84644484G>T	ENST00000284136.6	-	14	1637	c.1594C>A	c.(1594-1596)Cac>Aac	p.H532N	SEMA3D_ENST00000484038.1_5'UTR	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D	532					cell differentiation|nervous system development	extracellular region|membrane	receptor activity			NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						TCGCATCTGTGCAAGGAGAGC	0.468000													58	74					1.00798e-23	1.83463e-23	0.003610	1	0
ATP1A1	476	broad.mit.edu	37	1	116935553	116935553	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:116935553G>A	ENST00000537345.1	+	11	1773	c.1410G>A	c.(1408-1410)atG>atA	p.M470I	ATP1A1_ENST00000295598.5_Missense_Mutation_p.M470I|ATP1A1_ENST00000369496.4_Missense_Mutation_p.M439I	NM_001160233.1	NP_001153705.1	P05023	AT1A1_HUMAN	ATPase, Na+/K+ transporting, alpha 1 polypeptide	470					ATP biosynthetic process	melanosome|sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|protein binding|sodium:potassium-exchanging ATPase activity			NS(2)|breast(2)|cervix(3)|endometrium(2)|kidney(5)|large_intestine(9)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47	Lung SC(450;0.225)	all_cancers(81;1.28e-06)|all_epithelial(167;3.48e-07)|all_lung(203;2.64e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0164)|LUSC - Lung squamous cell carcinoma(189;0.0548)|Colorectal(144;0.0825)|COAD - Colon adenocarcinoma(174;0.127)|all cancers(265;0.24)	Acetyldigitoxin(DB00511)|Almitrine(DB01430)|Aluminium(DB01370)|Bepridil(DB01244)|Bretylium(DB01158)|Captopril(DB01197)|Deslanoside(DB01078)|Diazoxide(DB01119)|Digitoxin(DB01396)|Digoxin(DB00390)|Esomeprazole(DB00736)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Ouabain(DB01092)|Pantoprazole(DB00213)|Trichlormethiazide(DB01021)	TGAAGGAGATGAGAGAAAGAT	0.522000													12	73					0	0	0.001368	0	0
PCDHB3	56132	broad.mit.edu	37	5	140480404	140480404	+	Silent	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr5:140480404G>A	ENST00000231130.2	+	1	171	c.171G>A	c.(169-171)gaG>gaA	p.E57E	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN		57	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TAAGGGTAGAGGAACTGGCCG	0.502000													14	42					0	0	0.004007	0	0
KIAA1211	57482	broad.mit.edu	37	4	57181941	57181941	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr4:57181941C>G	ENST00000504228.1	+	6	2378	c.2273C>G	c.(2272-2274)gCc>gGc	p.A758G	KIAA1211_ENST00000541073.1_Missense_Mutation_p.A751G|KIAA1211_ENST00000264229.6_Missense_Mutation_p.A758G			Q6ZU35	K1211_HUMAN	KIAA1211	758										endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					GAAGAGACAGCCCCCCAGCCT	0.592000													17	18					0	0	0.004007	0	0
PRDM11	56981	broad.mit.edu	37	11	45117395	45117395	+	Silent	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr11:45117395C>A	ENST00000263765.4	+	2	288	c.39C>A	c.(37-39)atC>atA	p.I13I	PRDM11_ENST00000530656.1_Silent_p.I13I			Q9NQV5	PRD11_HUMAN	PR domain containing 11	13										endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	26						ccctgatgatcgtggagtgcc	0.527000													19	60					6.44725e-10	8.66128e-10	0.002299	1	0
OR11G2	390439	broad.mit.edu	37	14	20666392	20666392	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr14:20666392C>A	ENST00000357366.3	+	1	898	c.898C>A	c.(898-900)Cca>Aca	p.P300T		NM_001005503.1	NP_001005503.1	Q8NGC1	O11G2_HUMAN	olfactory receptor, family 11, subfamily G, member 2	300					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(95;0.00108)		Epithelial(56;9.76e-07)|all cancers(55;5.61e-06)	GBM - Glioblastoma multiforme(265;0.0144)		GTATGGGAGcccaccatctaa	0.478000													34	62					1.45844e-13	2.19664e-13	0.002836	1	0
DNHD1	144132	broad.mit.edu	37	11	6588935	6588935	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr11:6588935C>T	ENST00000254579.6	+	36	12760	c.12196C>T	c.(12196-12198)Cgg>Tgg	p.R4066W	DNHD1_ENST00000527990.2_Missense_Mutation_p.R4066W	NM_144666.2	NP_653267.2	Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	4066					microtubule-based movement	dynein complex	microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		CCTCCTGGGTCGGCCCCTGGA	0.602000													8	59					0	0	0.000978	0	0
TMEM120B	144404	broad.mit.edu	37	12	122213649	122213649	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr12:122213649C>T	ENST00000540377.1	+	6	547	c.151C>T	c.(151-153)Cgg>Tgg	p.R51W	TMEM120B_ENST00000449592.2_3'UTR			A0PK00	T120B_HUMAN	transmembrane protein 120B	0						integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(6)	11	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;5.75e-05)|Epithelial(86;0.000128)|BRCA - Breast invasive adenocarcinoma(302;0.238)		CCTGTGCCCTCGGCCCGGACT	0.667000											OREG0022207	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	39					0	0	0.001168	0	0
COL5A1	1289	broad.mit.edu	37	9	137623971	137623971	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr9:137623971C>T	ENST00000371817.3	+	9	1801	c.1387C>T	c.(1387-1389)Ccg>Tcg	p.P463S		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	463	Interrupted collagenous region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		GATTATCGAGCCGGTGAGGAC	0.582000													30	20					0	0	0.008361	0	0
RAB38	23682	broad.mit.edu	37	11	87883020	87883020	+	Silent	SNP	T	T	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr11:87883020T>A	ENST00000243662.6	-	2	388	c.306A>T	c.(304-306)gcA>gcT	p.A102A		NM_022337.2	NP_071732.1	P57729	RAB38_HUMAN	RAB38, member RAS oncogene family	102					protein transport|small GTPase mediated signal transduction	melanosome|plasma membrane	GTP binding|GTPase activity			large_intestine(2)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				TTTTCCACTTTGCCACTGCTT	0.453000													63	103					0	0	0.003610	0	0
FANCF	2188	broad.mit.edu	37	11	22646301	22646301	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr11:22646301T>A	ENST00000327470.3	-	1	1086	c.1056A>T	c.(1054-1056)ttA>ttT	p.L352F		NM_022725.3	NP_073562.1	Q9NPI8	FANCF_HUMAN	Fanconi anemia, complementation group F	352					DNA repair	nucleoplasm	protein binding			kidney(3)|large_intestine(3)|lung(6)|skin(1)	13						TACGAAGAGCTAATAAGAGGT	0.433000			"""N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia		OREG0020844	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	33	95					0	0	0.002445	0	0
NMNAT2	23057	broad.mit.edu	37	1	183230436	183230436	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:183230436C>T	ENST00000287713.6	-	9	988	c.654G>A	c.(652-654)atG>atA	p.M218I	NMNAT2_ENST00000294868.4_Missense_Mutation_p.M213I	NM_015039.3	NP_055854.1	Q9BZQ4	NMNA2_HUMAN	nicotinamide nucleotide adenylyltransferase 2	218					water-soluble vitamin metabolic process	Golgi membrane|nucleus	ATP binding|nicotinamide-nucleotide adenylyltransferase activity|nicotinate-nucleotide adenylyltransferase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(7)|skin(2)	18						CAATCACCTCCATCTAAAGAA	0.493000													23	19					0	0	0.002780	0	0
STAT2	6773	broad.mit.edu	37	12	56748643	56748643	+	Silent	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr12:56748643C>T	ENST00000314128.4	-	7	575	c.552G>A	c.(550-552)aaG>aaA	p.K184K	STAT2_ENST00000557235.1_Silent_p.K180K|STAT2_ENST00000418572.2_Silent_p.K180K			P52630	STAT2_HUMAN	signal transducer and activator of transcription 2, 113kDa	184					interspecies interaction between organisms|JAK-STAT cascade|regulation of transcription from RNA polymerase II promoter|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	cytosol|nucleoplasm|plasma membrane	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			NS(1)|endometrium(2)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|skin(3)	31						GAGAGGGTGTCTTCCCTGGAT	0.522000													22	144					0	0	0.010504	0	0
ZNF697	90874	broad.mit.edu	37	1	120165431	120165431	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:120165431C>T	ENST00000421812.2	-	3	1654	c.1535G>A	c.(1534-1536)cGc>cAc	p.R512H		NM_001080470.1	NP_001073939.1	Q5TEC3	ZN697_HUMAN	zinc finger protein 697	512					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2	all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0266)		Lung(183;0.011)|LUSC - Lung squamous cell carcinoma(189;0.0577)		GTGGATGCGGCGGTGGCGGAT	0.632000													8	9					0	0	0.004482	0	0
CAPN6	827	broad.mit.edu	37	X	110494896	110494896	+	Missense_Mutation	SNP	A	A	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chrX:110494896A>T	ENST00000324068.1	-	6	941	c.774T>A	c.(772-774)gaT>gaA	p.D258E	CAPN6_ENST00000541758.1_Missense_Mutation_p.D3E	NM_014289.3	NP_055104.2	Q9Y6Q1	CAN6_HUMAN	calpain 6	258	Calpain catalytic.				microtubule bundle formation|proteolysis|regulation of cytoskeleton organization	perinuclear region of cytoplasm|spindle microtubule	calcium-dependent cysteine-type endopeptidase activity|microtubule binding			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	47						TTTTGCGAATATCAGTCATGG	0.453000													40	279					0	0	0.002522	0	0
PKNOX2	63876	broad.mit.edu	37	11	125300009	125300009	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr11:125300009G>T	ENST00000298282.9	+	12	1435	c.1164G>T	c.(1162-1164)caG>caT	p.Q388H	PKNOX2_ENST00000542175.1_Missense_Mutation_p.Q324H|PKNOX2_ENST00000530517.1_3'UTR	NM_022062.2	NP_071345.2	Q96KN3	PKNX2_HUMAN	PBX/knotted 1 homeobox 2	388						nucleus	sequence-specific DNA binding transcription factor activity	p.Q388Q(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(14)|ovary(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	29		Breast(109;0.00234)|all_lung(97;0.0191)|Lung NSC(97;0.0196)|Medulloblastoma(222;0.0447)|all_neural(223;0.116)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.117)		TGCAGCAGCAGGGCGGTGCCC	0.622000													18	36					2.48551e-13	3.69426e-13	0.004990	1	0
DCAF8L2	347442	broad.mit.edu	37	X	27766228	27766228	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chrX:27766228G>T	ENST00000451261.2	+	5	1615	c.1216G>T	c.(1216-1218)Ggc>Tgc	p.G406C		NM_001136533.1	NP_001130005.1			DDB1 and CUL4 associated factor 8-like 2											central_nervous_system(1)|endometrium(9)|kidney(3)|lung(7)|pancreas(1)|skin(3)	24						AGAAAACAATGGCGTGCTCAA	0.433000													13	24					7.03913e-09	9.21177e-09	0.001368	1	0
CHRM2	1129	broad.mit.edu	37	7	136700567	136700567	+	Missense_Mutation	SNP	A	A	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr7:136700567A>G	ENST00000445907.2	+	3	1483	c.955A>G	c.(955-957)Aac>Gac	p.N319D	CHRM2_ENST00000402486.3_Missense_Mutation_p.N319D|CHRM2_ENST00000397608.3_Missense_Mutation_p.N319D|CHRM2_ENST00000320658.5_Missense_Mutation_p.N319D|AC009264.1_ENST00000425981.2_RNA|AC009264.1_ENST00000439694.1_RNA|AC009264.1_ENST00000586239.1_RNA|AC009264.1_ENST00000592183.1_RNA|AC009264.1_ENST00000598184.1_RNA|CHRM2_ENST00000401861.1_Missense_Mutation_p.N319D|AC009264.1_ENST00000597642.1_RNA|AC009264.1_ENST00000593789.1_RNA|CHRM2_ENST00000453373.1_Missense_Mutation_p.N319D	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	319					activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)	CAAAGATGAGAACTCTAAGCA	0.468000													20	45					0	0	0.008871	0	0
NEFH	4744	broad.mit.edu	37	22	29881762	29881762	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr22:29881762G>C	ENST00000310624.6	+	3	1167	c.1134G>C	c.(1132-1134)atG>atC	p.M378I		NM_021076.3	NP_066554.2	P12036	NFH_HUMAN	neurofilament, heavy polypeptide	378	Coil 2B.|Rod.				cell death|nervous system development	neurofilament				cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						AGTGGGAGATGGCCGCCCAGC	0.572000													12	18					0	0	0.000978	0	0
MYO10	4651	broad.mit.edu	37	5	16672932	16672932	+	Silent	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr5:16672932C>T	ENST00000513610.1	-	37	5629	c.5175G>A	c.(5173-5175)gtG>gtA	p.V1725V	MYO10_ENST00000515803.1_Silent_p.V1064V|MYO10_ENST00000505695.1_Silent_p.V1064V|MYO10_ENST00000427430.2_Silent_p.V1082V|MYO10_ENST00000274203.9_Silent_p.V1082V	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	1725	FERM.				axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						GCTTCTCCACCACCTGGAAGA	0.567000													12	13					0	0	0.002450	0	0
CDH4	1002	broad.mit.edu	37	20	60448826	60448826	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr20:60448826G>T	ENST00000360469.5	+	7	1008	c.920G>T	c.(919-921)aGc>aTc	p.S307I	CDH4_ENST00000543233.1_Missense_Mutation_p.S233I	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	307	Cadherin 2.				adherens junction organization|cell junction assembly		calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			GCTGACGACAGCACCACGGCC	0.617000													52	82					5.39261e-20	9.36208e-20	0.003610	1	0
TM9SF3	56889	broad.mit.edu	37	10	98307744	98307744	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr10:98307744C>A	ENST00000371142.4	-	8	1178	c.962G>T	c.(961-963)aGg>aTg	p.R321M	TM9SF3_ENST00000490192.1_5'UTR	NM_020123.3	NP_064508.3	Q9HD45	TM9S3_HUMAN	transmembrane 9 superfamily member 3	321						integral to membrane	binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(2)|prostate(1)	15		Colorectal(252;0.158)		Epithelial(162;1.84e-09)|all cancers(201;2.84e-08)		CATTGATCCCCTCCTAAAAAG	0.318000													17	37					0.006122	0.0064426	0.006122	1	0
KIF2B	84643	broad.mit.edu	37	17	51902405	51902405	+	Nonsense_Mutation	SNP	A	A	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr17:51902405A>T	ENST00000268919.4	+	1	2167	c.2011A>T	c.(2011-2013)Aag>Tag	p.K671*		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	671					blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						CGTGAAGAGCAAGGTAGAGTG	0.438000													4	19					0	0	0.000602	0	0
PAX4	5078	broad.mit.edu	37	7	127251591	127251591	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr7:127251591C>G	ENST00000341640.2	-	8	1092	c.887G>C	c.(886-888)tGg>tCg	p.W296S	PAX4_ENST00000378740.2_Missense_Mutation_p.W296S|PAX4_ENST00000338516.3_3'UTR|PAX4_ENST00000463946.1_Missense_Mutation_p.W294S	NM_006193.2	NP_006184.2	O43316	PAX4_HUMAN	paired box 4	304	Transcription repression.				cell differentiation|endocrine pancreas development|organ morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|kidney(2)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						ATTCTTACCCCAGCAGGGCTT	0.577000													23	59					0	0	0.005443	0	0
IFNLR1	163702	broad.mit.edu	37	1	24484118	24484118	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:24484118C>G	ENST00000327535.1	-	7	1077	c.1065G>C	c.(1063-1065)caG>caC	p.Q355H	IFNLR1_ENST00000374421.3_Missense_Mutation_p.Q326H|IFNLR1_ENST00000327575.2_3'UTR	NM_170743.3|NM_173064.2	NP_734464.1|NP_775087.1			interferon, lambda receptor 1																		GCCCTGGAGCCTGGTGCTCTT	0.597000													17	24					0	0	0.004990	0	0
HECTD1	25831	broad.mit.edu	37	14	31602763	31602763	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr14:31602763C>G	ENST00000399332.1	-	23	4185	c.3697G>C	c.(3697-3699)Gga>Cga	p.G1233R	HECTD1_ENST00000553700.1_Missense_Mutation_p.G1233R	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	1233					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		AGTTCGAATCCAGATAATGAG	0.383000													13	117					0	0	0.004007	0	0
OR5T3	390154	broad.mit.edu	37	11	56019807	56019807	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr11:56019807G>T	ENST00000303059.3	+	1	132	c.132G>T	c.(130-132)ttG>ttT	p.L44F		NM_001004747.1	NP_001004747.1	Q8NGG3	OR5T3_HUMAN	olfactory receptor, family 5, subfamily T, member 3	44					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	39	Esophageal squamous(21;0.00448)					TGTTTATATTGACAGGCTTCA	0.363000													12	52					0.00136819	0.00147259	0.001368	1	0
PCDHA5	56143	broad.mit.edu	37	5	140203561	140203561	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr5:140203561G>T	ENST00000529859.1	+	1	2201	c.2201G>T	c.(2200-2202)gGc>gTc	p.G734V	PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Missense_Mutation_p.G734V|PCDHA5_ENST00000378126.3_Missense_Mutation_p.G734V|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018908.2	NP_061731.1														NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCACACGGGGCAAGCCCACT	0.662000													27	14					9.39395e-14	1.42512e-13	0.006320	1	0
TTN	7273	broad.mit.edu	37	2	179599228	179599228	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr2:179599228C>A	ENST00000589042.1	-	52	15547	c.15323G>T	c.(15322-15324)tGg>tTg	p.W5108L	TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.W4791L|TTN_ENST00000342992.6_Missense_Mutation_p.W3864L|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	4791	Ig-like 31.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTCTTTGAACCAGCTAATTTC	0.383000													51	80					8.00217e-19	1.36502e-18	0.003610	1	0
KIF5A	3798	broad.mit.edu	37	12	57961342	57961342	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr12:57961342G>A	ENST00000455537.2	+	8	929	c.655G>A	c.(655-657)Gaa>Aaa	p.E219K	KIF5A_ENST00000286452.5_Missense_Mutation_p.E130K	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN	kinesin family member 5A	219	Kinesin-motor.|Microtubule-binding.				blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						GGAGAACATGGAAACGGAGCA	0.557000													8	60					0	0	0.006214	0	0
KYNU	8942	broad.mit.edu	37	2	143685264	143685264	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr2:143685264G>T	ENST00000264170.4	+	4	585	c.327G>T	c.(325-327)tgG>tgT	p.W109C	KYNU_ENST00000375773.2_Missense_Mutation_p.W109C|KYNU_ENST00000410015.2_Missense_Mutation_p.W109C|KYNU_ENST00000409512.1_Missense_Mutation_p.W109C	NM_003937.2	NP_003928.1	Q16719	KYNU_HUMAN	kynureninase	109					anthranilate metabolic process|NAD biosynthetic process|quinolinate biosynthetic process|response to interferon-gamma|response to vitamin B6	cytosol|mitochondrion|soluble fraction	kynureninase activity|protein homodimerization activity			large_intestine(10)|liver(1)|lung(18)|prostate(3)|skin(4)	36				BRCA - Breast invasive adenocarcinoma(221;0.072)	L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)	AGCGTCCTTGGATTACAGGAG	0.358000													24	103					1.77063e-15	2.78704e-15	0.005443	1	0
DNAH11	8701	broad.mit.edu	37	7	21901539	21901539	+	Silent	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr7:21901539C>A	ENST00000328843.6	+	70	11323	c.11292C>A	c.(11290-11292)atC>atA	p.I3764I	DNAH11_ENST00000409508.3_Silent_p.I3757I			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	3764					microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						AGGGACGCATCTCTATCCTGA	0.502000									Kartagener syndrome				26	8					4.87955e-14	7.43334e-14	0.005443	1	0
PDE11A	50940	broad.mit.edu	37	2	178769854	178769854	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr2:178769854C>G	ENST00000286063.5	-	3	1449	c.1132G>C	c.(1132-1134)Gcc>Ccc	p.A378P	PDE11A_ENST00000358450.4_Missense_Mutation_p.A128P|PDE11A_ENST00000497003.1_5'UTR|PDE11A_ENST00000449286.2_Missense_Mutation_p.A20P|PDE11A_ENST00000409504.1_Missense_Mutation_p.A20P	NM_016953.3	NP_058649.3	Q9HCR9	PDE11_HUMAN	phosphodiesterase 11A	378					platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)			TTCCTTGAGGCAGCAAAGAGC	0.363000									Primary Pigmented Nodular Adrenocortical Disease, Familial				17	52					0	0	0.007413	0	0
FBXL4	26235	broad.mit.edu	37	6	99328438	99328438	+	Missense_Mutation	SNP	A	A	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr6:99328438A>C	ENST00000369244.2	-	8	1808	c.1380T>G	c.(1378-1380)agT>agG	p.S460R	FBXL4_ENST00000229971.1_Missense_Mutation_p.S460R			Q9UKA2	FBXL4_HUMAN	F-box and leucine-rich repeat protein 4	460					ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|ubiquitin ligase complex				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|prostate(3)|skin(2)	18		all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197)		BRCA - Breast invasive adenocarcinoma(108;0.0413)		CCATGACACAACTGCCTAAAC	0.423000													10	25					0	0	0.008291	0	0
OR2T4	127074	broad.mit.edu	37	1	248525105	248525105	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:248525105G>A	ENST00000366475.1	+	1	223	c.223G>A	c.(223-225)Gct>Act	p.A75T		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	75					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GTCTGGAAATGCTGTCCTGAT	0.463000													23	255					0	0	0.004656	0	0
ZFC3H1	196441	broad.mit.edu	37	12	72013875	72013875	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr12:72013875G>A	ENST00000378743.3	-	26	5238	c.4880C>T	c.(4879-4881)tCt>tTt	p.S1627F		NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	1627					RNA processing	intracellular	metal ion binding	p.S1627Y(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						TTCCAATAAAGATTTACAAAG	0.363000													22	7					0	0	0.002299	0	0
PRG4	10216	broad.mit.edu	37	1	186277469	186277469	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:186277469C>A	ENST00000445192.2	+	7	2663	c.2618C>A	c.(2617-2619)cCt>cAt	p.P873H	PRG4_ENST00000367486.3_Missense_Mutation_p.P830H|PRG4_ENST00000367485.4_Missense_Mutation_p.P780H|PRG4_ENST00000367484.3_Missense_Mutation_p.P402H|PRG4_ENST00000367483.4_Missense_Mutation_p.P832H	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	873					cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CACAAAAGCCCTGATGAATCA	0.502000													57	68					3.93605e-18	6.57653e-18	0.003610	1	0
DDN	23109	broad.mit.edu	37	12	49390588	49390588	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr12:49390588C>G	ENST00000421952.2	-	2	2092	c.2071G>C	c.(2071-2073)Gag>Cag	p.E691Q		NM_015086.1	NP_055901.2	O94850	DEND_HUMAN	dendrin	691	Interaction with CD2AP and NPHS1 (By similarity).					dendritic spine membrane|endoplasmic reticulum membrane|nucleus|perikaryon				NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)	8						AGGACCTCCTCGGTTTGGCTT	0.562000											OREG0021778	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	94					0	0	0.002450	0	0
MAP2K3	5606	broad.mit.edu	37	17	21206509	21206509	+	Silent	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr17:21206509G>T	ENST00000342679.4	+	7	780	c.531G>T	c.(529-531)ctG>ctT	p.L177L	MAP2K3_ENST00000316920.6_Silent_p.L148L|MAP2K3_ENST00000361818.5_Silent_p.L148L	NM_145109.2	NP_659731.1	P46734	MP2K3_HUMAN	mitogen-activated protein kinase kinase 3	177	Protein kinase.				activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of transcription, DNA-dependent|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity								COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553)		TGCGGGCCCTGGAGCATCTGC	0.627000													10	19					1.41608e-15	2.24098e-15	0.001855	1	0
SETD1A	9739	broad.mit.edu	37	16	30975533	30975533	+	Missense_Mutation	SNP	G	G	T	rs148087764		TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr16:30975533G>T	ENST00000262519.8	+	6	1444	c.758G>T	c.(757-759)cGa>cTa	p.R253L		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	253	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck|Set1C/COMPASS complex	histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						TCCAGCAGCCGACAAGATACC	0.622000													43	46					3.54561e-26	6.60915e-26	0.009718	1	0
EFTUD2	9343	broad.mit.edu	37	17	42953336	42953336	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr17:42953336G>A	ENST00000426333.2	-	10	1132	c.835C>T	c.(835-837)Cgc>Tgc	p.R279C	EFTUD2_ENST00000592576.1_Missense_Mutation_p.R269C|EFTUD2_ENST00000591382.1_Missense_Mutation_p.R279C|EFTUD2_ENST00000402521.3_Missense_Mutation_p.R244C	NM_001142605.1|NM_001258354.1|NM_004247.3	NP_001136077.1|NP_001245283.1|NP_004238.3	Q15029	U5S1_HUMAN	elongation factor Tu GTP binding domain containing 2	279						Cajal body|catalytic step 2 spliceosome|cytoplasm|nuclear speck	GTP binding|GTPase activity|protein binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	32		Prostate(33;0.109)				ACAATGTGGCGCAGCTTGTAA	0.512000													47	177					0	0	0.002852	0	0
AWAT1	158833	broad.mit.edu	37	X	69455968	69455968	+	Silent	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chrX:69455968C>A	ENST00000374521.3	+	3	275	c.234C>A	c.(232-234)atC>atA	p.I78I	AWAT1_ENST00000480702.1_3'UTR	NM_001013579.2	NP_001013597.1	Q58HT5	AWAT1_HUMAN	acyl-CoA wax alcohol acyltransferase 1	78					lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	long-chain-alcohol O-fatty-acyltransferase activity			breast(2)|central_nervous_system(1)|large_intestine(4)|lung(3)|ovary(4)|skin(1)	15						GGACCCACATCAGGGACTATT	0.502000													14	26					5.01169e-05	5.66422e-05	0.004990	1	0
USP29	57663	broad.mit.edu	37	19	57640451	57640451	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr19:57640451C>A	ENST00000254181.4	+	4	862	c.408C>A	c.(406-408)agC>agA	p.S136R	USP29_ENST00000598197.1_Missense_Mutation_p.S136R	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	136					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CATTTTACAGCATTTGTAACA	0.373000													13	38					4.3838e-07	5.34583e-07	0.001855	1	0
GABRG2	2566	broad.mit.edu	37	5	161580330	161580330	+	Missense_Mutation	SNP	T	T	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr5:161580330T>G	ENST00000356592.3	+	10	1844	c.1384T>G	c.(1384-1386)Tgc>Ggc	p.C462G	GABRG2_ENST00000393933.4_Missense_Mutation_p.C359G|GABRG2_ENST00000361925.4_Missense_Mutation_p.C454G|GABRG2_ENST00000414552.2_Missense_Mutation_p.C502G	NM_000816.3|NM_198904.2	NP_000807.2|NP_944494.1	P18507	GBRG2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 2	454					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)		CACTGCCTTCTGCCTGTTTAA	0.458000													34	91					0	0	0.006230	0	0
TIAM1	7074	broad.mit.edu	37	21	32492884	32492884	+	Silent	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr21:32492884C>T	ENST00000286827.3	-	29	5049	c.4578G>A	c.(4576-4578)gaG>gaA	p.E1526E	TIAM1_ENST00000541036.1_Silent_p.E1466E	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	1526					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						CCTGAAGCCGCTCCTGCAGGT	0.567000													16	32					0	0	0.004990	0	0
GABRG2	2566	broad.mit.edu	37	5	161580244	161580244	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr5:161580244G>C	ENST00000356592.3	+	10	1758	c.1298G>C	c.(1297-1299)cGa>cCa	p.R433P	GABRG2_ENST00000393933.4_Missense_Mutation_p.R330P|GABRG2_ENST00000361925.4_Missense_Mutation_p.R425P|GABRG2_ENST00000414552.2_Missense_Mutation_p.R473P	NM_000816.3|NM_198904.2	NP_000807.2|NP_944494.1	P18507	GBRG2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 2	425	Interaction with GABARAP (Potential).				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding	p.R433Q(1)		NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)		GAAGATTGTCGAACAGGAGCT	0.468000													50	30					0	0	0.003610	0	0
PCNT	5116	broad.mit.edu	37	21	47783821	47783821	+	Missense_Mutation	SNP	G	G	T	rs35772268		TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr21:47783821G>T	ENST00000359568.5	+	14	2688	c.2581G>T	c.(2581-2583)Gcc>Tcc	p.A861S	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	861					cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					GGAAGACTGCGCCCTGCAGCT	0.657000													26	52					7.4402e-23	1.33759e-22	0.003954	1	0
IL18RAP	8807	broad.mit.edu	37	2	103040797	103040797	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr2:103040797G>T	ENST00000264260.2	+	5	1091	c.502G>T	c.(502-504)Ggg>Tgg	p.G168W	IL18RAP_ENST00000409369.1_Missense_Mutation_p.G26W	NM_003853.2	NP_003844.1	O95256	I18RA_HUMAN	interleukin 18 receptor accessory protein	168	Ig-like C2-type 1.				cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						cctacttcttgggagcactgg	0.443000													39	37					3.09479e-21	5.46994e-21	0.006999	1	0
FAM135B	51059	broad.mit.edu	37	8	139163958	139163958	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr8:139163958G>T	ENST00000395297.1	-	13	2930	c.2760C>A	c.(2758-2760)aaC>aaA	p.N920K		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	920										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			AGATGCCACTGTTGGAAAGAG	0.507000										HNSCC(54;0.14)			28	82					7.76418e-22	1.37727e-21	0.005443	1	0
UBXN2A	165324	broad.mit.edu	37	2	24205808	24205808	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr2:24205808G>T	ENST00000309033.4	+	5	574	c.330G>T	c.(328-330)gaG>gaT	p.E110D	UBXN2A_ENST00000446425.2_3'UTR|UBXN2A_ENST00000535786.1_Missense_Mutation_p.E110D|UBXN2A_ENST00000404924.1_Missense_Mutation_p.E110D	NM_181713.3	NP_859064.2	P68543	UBX2A_HUMAN	UBX domain protein 2A	110	SEP.									endometrium(1)|large_intestine(3)|liver(1)|lung(6)	11						ATAAAGAAGAGGTGGACGTTA	0.358000													14	49					3.27435e-08	4.16246e-08	0.002450	1	0
MINA	84864	broad.mit.edu	37	3	97686167	97686167	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr3:97686167T>A	ENST00000333396.6	-	2	853	c.271A>T	c.(271-273)Agc>Tgc	p.S91C	MINA_ENST00000330299.2_Missense_Mutation_p.S91C|MINA_ENST00000360258.4_Missense_Mutation_p.S91C|MINA_ENST00000394198.2_Missense_Mutation_p.S91C	NM_001042533.2|NM_032778.5	NP_001035998.1|NP_116167.3	Q8IUF8	MINA_HUMAN	MYC induced nuclear antigen	91					ribosome biogenesis	cytoplasm|nucleolus				breast(2)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1)	13						ATCCCCCGGCTGCACAGACTC	0.478000													112	232					0	0	0.003610	0	0
UTP14A	10813	broad.mit.edu	37	X	129063311	129063311	+	Splice_Site	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chrX:129063311G>T	ENST00000394422.3	+	15	2071		c.e15-1		UTP14A_ENST00000425117.2_Splice_Site|UTP14A_ENST00000371051.5_Splice_Site|UTP14A_ENST00000371042.3_Splice_Site|RP4-537K23.4_ENST00000432062.1_RNA	NM_006649.3	NP_006640.2	Q9BVJ6	UT14A_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein, homolog A (yeast)						rRNA processing	nucleolus|small-subunit processome	protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(16)|ovary(3)|urinary_tract(1)	32						TTCCTTTCCAGGTACGAGTGC	0.493000													28	70					4.43304e-23	8.00894e-23	0.006320	1	0
XPC	7508	broad.mit.edu	37	3	14199617	14199617	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr3:14199617C>G	ENST00000285021.7	-	9	1980	c.1766G>C	c.(1765-1767)tGg>tCg	p.W589S	XPC_ENST00000449060.2_Missense_Mutation_p.W552S	NM_001145769.1|NM_004628.4	NP_001139241.1|NP_004619.3	Q01831	XPC_HUMAN	xeroderma pigmentosum, complementation group C	589	Interaction with RAD23B.				nucleotide-excision repair, DNA damage recognition|nucleotide-excision repair, DNA damage removal	cytoplasm|nucleoplasm|XPC complex	bubble DNA binding|damaged DNA binding|loop DNA binding|protein binding|single-stranded DNA binding			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CACTGTCATCCAGACTGGGTC	0.557000			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				35	60					0	0	0.002836	0	0
GPR115	221393	broad.mit.edu	37	6	47681720	47681720	+	Missense_Mutation	SNP	A	A	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr6:47681720A>T	ENST00000283303.2	+	6	997	c.739A>T	c.(739-741)Atc>Ttc	p.I247F	GPR115_ENST00000327753.3_Missense_Mutation_p.I247F|GPR115_ENST00000371220.1_Missense_Mutation_p.I304F	NM_153838.3	NP_722580.3	Q8IZF3	GP115_HUMAN	G protein-coupled receptor 115	247					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	52						AGGGTTTCACATCAACCATAA	0.393000													13	74					0	0	0.001855	0	0
ZMYM6	9204	broad.mit.edu	37	1	35457958	35457958	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:35457958G>A	ENST00000357182.4	-	15	2250	c.2023C>T	c.(2023-2025)Cca>Tca	p.P675S	ZMYM6_ENST00000493328.1_5'UTR|ZMYM6_ENST00000487874.1_Missense_Mutation_p.P675S|ZMYM6_ENST00000373340.2_Missense_Mutation_p.P675S	NM_007167.3	NP_009098.3	O95789	ZMYM6_HUMAN	zinc finger, MYM-type 6	675					multicellular organismal development	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(10)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	44		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13)				TGGGAAGATGGAAATTTCATA	0.383000													25	40					0	0	0.003954	0	0
ZNF831	128611	broad.mit.edu	37	20	57769036	57769036	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr20:57769036C>G	ENST00000371030.2	+	1	2962	c.2962C>G	c.(2962-2964)Ctt>Gtt	p.L988V		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	988						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					GGGGACCCCTCTTTCTCCCAG	0.637000													20	59					0	0	0.008871	0	0
MUC16	94025	broad.mit.edu	37	19	9059308	9059308	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr19:9059308C>A	ENST00000397910.4	-	3	28341	c.28138G>T	c.(28138-28140)Ggt>Tgt	p.G9380C		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9382	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTAAAGGTACCCTGCGAGGTA	0.507000													54	24					2.23044e-30	4.21656e-30	0.003610	1	0
IL2RG	3561	broad.mit.edu	37	X	70327653	70327653	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chrX:70327653G>T	ENST00000374202.2	-	8	1134	c.1043C>A	c.(1042-1044)gCc>gAc	p.A348D	IL2RG_ENST00000456850.2_Missense_Mutation_p.A158D|IL2RG_ENST00000374188.3_Missense_Mutation_p.A77D	NM_000206.2	NP_000197.1	P31785	IL2RG_HUMAN	interleukin 2 receptor, gamma	348					immune response|interleukin-4-mediated signaling pathway|interspecies interaction between organisms	external side of plasma membrane|integral to plasma membrane	cytokine receptor activity|interleukin-2 binding			breast(1)|endometrium(3)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|urinary_tract(1)	15	Renal(35;0.156)				Aldesleukin(DB00041)|Denileukin diftitox(DB00004)	GCATGGGGAGGCCCCAGGCCC	0.602000									Severe Combined Immunodeficiency, X-linked				12	16					7.03913e-09	9.21177e-09	0.001368	1	0
TNMD	64102	broad.mit.edu	37	X	99849302	99849302	+	Silent	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chrX:99849302C>A	ENST00000373031.4	+	4	583	c.366C>A	c.(364-366)atC>atA	p.I122I	TNMD_ENST00000485971.1_3'UTR	NM_022144.2	NP_071427.2	Q9H2S6	TNMD_HUMAN	tenomodulin	122	BRICHOS.					integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(7)|skin(1)	16						AATGTTTTATCAAAACTCAGA	0.338000													18	23					1.22574e-08	1.5927e-08	0.002299	1	0
ZBTB21	49854	broad.mit.edu	37	21	43411970	43411970	+	Silent	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr21:43411970C>T	ENST00000310826.5	-	3	2418	c.2235G>A	c.(2233-2235)cgG>cgA	p.R745R	ZBTB21_ENST00000465968.1_5'UTR|ZBTB21_ENST00000398499.1_Silent_p.R745R|ZBTB21_ENST00000398511.3_Silent_p.R745R|ZBTB21_ENST00000398505.3_Silent_p.R544R	NM_001098402.1	NP_001091872.1			zinc finger and BTB domain containing 21																		CGGCCGCGTTCCGGCACAGCC	0.547000													57	140					0	0	0.003610	0	0
IGHV1-45	28466	broad.mit.edu	37	14	106963107	106963107	+	RNA	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr14:106963107C>A	ENST00000390621.2	-	0	232																											TGTCCGGGGGCCTGTCGCACC	0.552000													10	116					0.000673444	0.000732352	0.008291	1	0
STARD8	9754	broad.mit.edu	37	X	67940832	67940832	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chrX:67940832T>A	ENST00000252336.6	+	8	2248	c.1876T>A	c.(1876-1878)Tcg>Acg	p.S626T	STARD8_ENST00000374599.3_Missense_Mutation_p.S706T|STARD8_ENST00000374597.3_Missense_Mutation_p.S626T	NM_014725.4	NP_055540.2	Q92502	STAR8_HUMAN	StAR-related lipid transfer (START) domain containing 8	626	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion	GTPase activator activity			NS(2)|breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	50						GAATGAGACCTCGCCTGACAA	0.562000													12	36					0	0	0.001368	0	0
NAV3	89795	broad.mit.edu	37	12	78579401	78579401	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr12:78579401G>T	ENST00000397909.2	+	31	5886	c.5713G>T	c.(5713-5715)Ggt>Tgt	p.G1905C	NAV3_ENST00000552300.1_3'UTR|NAV3_ENST00000228327.6_Missense_Mutation_p.G1883C|NAV3_ENST00000266692.7_Missense_Mutation_p.G1706C|NAV3_ENST00000536525.2_Missense_Mutation_p.G1883C			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1905						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						AGATGATGCTGGTGATGCAAC	0.358000										HNSCC(70;0.22)			21	15					3.28513e-13	4.86305e-13	0.003954	1	0
CNDP2	55748	broad.mit.edu	37	18	72173175	72173175	+	Missense_Mutation	SNP	A	A	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr18:72173175A>G	ENST00000324262.4	+	4	612	c.296A>G	c.(295-297)cAc>cGc	p.H99R	CNDP2_ENST00000324301.8_Intron|CNDP2_ENST00000579847.1_Missense_Mutation_p.H99R	NM_018235.2	NP_060705.2	Q96KP4	CNDP2_HUMAN	CNDP dipeptidase 2 (metallopeptidase M20 family)	99						cytoplasm	carboxypeptidase activity|metal ion binding|metallopeptidase activity|protein binding|tripeptidase activity			breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(5)|ovary(2)|skin(2)|stomach(3)	24		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.22)		ATTTACGGGCACCTGGATGTG	0.662000													11	38					0	0	0.001368	0	0
APOB	338	broad.mit.edu	37	2	21229397	21229397	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr2:21229397G>T	ENST00000233242.1	-	26	10470	c.10343C>A	c.(10342-10344)aCc>aAc	p.T3448N		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	3448	Heparin-binding.				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	p.T3448N(1)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TTTTGACTTGGTATTTCCATT	0.378000													19	136					1.01871e-10	1.40456e-10	0.008871	1	0
APLP2	334	broad.mit.edu	37	11	129996639	129996639	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr11:129996639G>T	ENST00000263574.5	+	8	1207	c.1135G>T	c.(1135-1137)Gag>Tag	p.E379*	APLP2_ENST00000528499.1_Nonsense_Mutation_p.E323*|APLP2_ENST00000539648.1_Nonsense_Mutation_p.E167*|APLP2_ENST00000345598.5_Nonsense_Mutation_p.E150*|APLP2_ENST00000543137.1_Nonsense_Mutation_p.E286*|APLP2_ENST00000338167.5_Nonsense_Mutation_p.E379*|APLP2_ENST00000278756.7_Nonsense_Mutation_p.E389*	NM_001642.2	NP_001633.1	Q06481	APLP2_HUMAN	amyloid beta (A4) precursor-like protein 2	379					G-protein coupled receptor protein signaling pathway	integral to membrane|nucleus|plasma membrane	DNA binding|identical protein binding|serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_hematologic(175;0.0429)	Breast(109;0.00586)|Lung NSC(97;0.00785)|all_lung(97;0.0154)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0197)|Lung(977;0.24)		TGTGTATTTCGAGACCTCTGC	0.483000													70	151					1.74474e-33	3.33708e-33	0.003610	1	0
TNXB	7148	broad.mit.edu	37	6	32024401	32024401	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr6:32024401C>A	ENST00000375244.3	-	23	8306	c.8105G>T	c.(8104-8106)gGc>gTc	p.G2702V	TNXB_ENST00000375247.2_Missense_Mutation_p.G2702V			P22105	TENX_HUMAN	tenascin XB	2762	Fibronectin type-III 19.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CACGCGCTGGCCACCGTGGAA	0.647000													19	17					2.98393e-07	3.66926e-07	0.002780	1	0
MYRF	745	broad.mit.edu	37	11	61539178	61539178	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr11:61539178G>A	ENST00000278836.5	+	6	1043	c.947G>A	c.(946-948)cGt>cAt	p.R316H	TMEM258_ENST00000535042.1_Intron|MYRF_ENST00000265460.5_Missense_Mutation_p.R307H	NM_001127392.1	NP_001120864.1			myelin regulatory factor																		AGCATTGCCCGTGTCCAGACA	0.692000													33	81					0	0	0.004878	0	0
KCNB2	9312	broad.mit.edu	37	8	73849198	73849198	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr8:73849198T>A	ENST00000523207.1	+	3	2196	c.1608T>A	c.(1606-1608)agT>agA	p.S536R		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	536					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			AGCATCTGAGTGCCCAGAAAC	0.498000													25	38					0	0	0.003954	0	0
DISP1	84976	broad.mit.edu	37	1	223178307	223178307	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:223178307G>C	ENST00000284476.6	+	8	3732	c.3568G>C	c.(3568-3570)Gag>Cag	p.E1190Q		NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	1190					diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity	p.E1190Q(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		ACTGGAGCATGAGTTTTATGA	0.453000													31	32					0	0	0.008361	0	0
GABRG2	2566	broad.mit.edu	37	5	161580243	161580243	+	Nonsense_Mutation	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr5:161580243C>T	ENST00000356592.3	+	10	1757	c.1297C>T	c.(1297-1299)Cga>Tga	p.R433*	GABRG2_ENST00000393933.4_Nonsense_Mutation_p.R330*|GABRG2_ENST00000361925.4_Nonsense_Mutation_p.R425*|GABRG2_ENST00000414552.2_Nonsense_Mutation_p.R473*	NM_000816.3|NM_198904.2	NP_000807.2|NP_944494.1	P18507	GBRG2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 2	425	Interaction with GABARAP (Potential).				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)		TGAAGATTGTCGAACAGGAGC	0.468000													48	31					0	0	0.003610	0	0
LYSMD2	256586	broad.mit.edu	37	15	52017075	52017075	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr15:52017075C>A	ENST00000267838.3	-	2	1031	c.517G>T	c.(517-519)Gaa>Taa	p.E173*	LYSMD2_ENST00000454181.2_Nonsense_Mutation_p.E82*|LYSMD2_ENST00000558126.1_Nonsense_Mutation_p.E66*|LYSMD2_ENST00000560491.1_Nonsense_Mutation_p.E82*	NM_153374.2	NP_699205.1	Q8IV50	LYSM2_HUMAN	LysM, putative peptidoglycan-binding, domain containing 2	173					cell wall macromolecule catabolic process					lung(2)|upper_aerodigestive_tract(1)	3				all cancers(107;0.00258)		GCTGACACTTCCTCAGGCTGC	0.498000													27	53					8.24728e-16	1.31651e-15	0.004656	1	0
DNER	92737	broad.mit.edu	37	2	230231801	230231801	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr2:230231801G>T	ENST00000341772.4	-	12	2024	c.1890C>A	c.(1888-1890)agC>agA	p.S630R		NM_139072.3	NP_620711.3	Q8NFT8	DNER_HUMAN	delta/notch-like EGF repeat containing	630					central nervous system development|endocytosis|neuron migration|Notch signaling pathway|synapse assembly	dendrite|early endosome|integral to membrane|plasma membrane	calcium ion binding|clathrin binding|transmembrane receptor activity			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	63		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)		TGTTGGTGAGGCTCTCCGCCA	0.522000													8	20					1.58986e-06	1.89159e-06	0.008291	1	0
ADAMTSL3	57188	broad.mit.edu	37	15	84611388	84611388	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr15:84611388G>T	ENST00000286744.5	+	18	2382	c.2158G>T	c.(2158-2160)Gga>Tga	p.G720*	ADAMTSL3_ENST00000567476.1_Nonsense_Mutation_p.G720*	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	720	TSP type-1 5.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			AGCTACCTGTGGAGTTGGAAT	0.542000													43	31					3.4345e-17	5.61695e-17	0.002852	1	0
ARHGAP30	257106	broad.mit.edu	37	1	161024438	161024438	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:161024438G>A	ENST00000368013.3	-	4	723	c.403C>T	c.(403-405)Cgg>Tgg	p.R135W	ARHGAP30_ENST00000368015.1_Intron|ARHGAP30_ENST00000368016.3_Missense_Mutation_p.R135W	NM_001025598.1|NM_181720.2	NP_001020769.1|NP_859071.2	Q7Z6I6	RHG30_HUMAN	Rho GTPase activating protein 30	135	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			GGGAGTTCCCGAAGCACCTCT	0.527000													20	68					0	0	0.008871	0	0
SH3D21	79729	broad.mit.edu	37	1	36786094	36786094	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:36786094G>T	ENST00000453908.2	+	14	1858	c.1830G>T	c.(1828-1830)agG>agT	p.R610S	SH3D21_ENST00000505871.1_Missense_Mutation_p.R499S|SH3D21_ENST00000474766.1_3'UTR|SH3D21_ENST00000426732.2_Missense_Mutation_p.R494S|SH3D21_ENST00000312808.4_Missense_Mutation_p.R256S	NM_001162530.1	NP_001156002.1	A4FU49	SH321_HUMAN	SH3 domain containing 21	494										endometrium(1)|large_intestine(6)|lung(4)|pancreas(1)	12						ACGAGCAGAGGCCTCTGAGAG	0.592000													13	32					1.5842e-08	2.0476e-08	0.001855	1	0
WDR44	54521	broad.mit.edu	37	X	117530973	117530973	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chrX:117530973G>T	ENST00000254029.3	+	7	1489	c.1094G>T	c.(1093-1095)gGa>gTa	p.G365V	WDR44_ENST00000371822.5_Missense_Mutation_p.G340V|WDR44_ENST00000371825.3_Missense_Mutation_p.G365V	NM_019045.4	NP_061918.3	Q5JSH3	WDR44_HUMAN	WD repeat domain 44	365						cytosol|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm				breast(4)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	33						CTGGATACTGGAGAAGAAATA	0.343000													14	39					0.000308642	0.000338905	0.003163	1	0
COL16A1	1307	broad.mit.edu	37	1	32162668	32162668	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:32162668C>A	ENST00000373672.3	-	8	1276	c.760G>T	c.(760-762)Gcc>Tcc	p.A254S	COL16A1_ENST00000271069.6_Missense_Mutation_p.A254S|COL16A1_ENST00000373668.3_Missense_Mutation_p.A254S	NM_001856.3	NP_001847.3	Q07092	COGA1_HUMAN	collagen, type XVI, alpha 1	254	Nonhelical region 10 (NC10).				cell adhesion|female pregnancy|integrin-mediated signaling pathway	collagen type XVI	integrin binding|structural molecule activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		TCCCGGCGGGCCTTGGAGGTC	0.587000													19	58					1.28384e-07	1.59745e-07	0.001882	1	0
CENPK	64105	broad.mit.edu	37	5	64850710	64850710	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr5:64850710C>A	ENST00000396679.1	-	3	239	c.25G>T	c.(25-27)Gat>Tat	p.D9Y	CENPK_ENST00000506282.2_Intron|CENPK_ENST00000514814.1_Missense_Mutation_p.D9Y|CENPK_ENST00000242872.3_Missense_Mutation_p.D9Y|CENPK_ENST00000510693.1_5'UTR|CENPK_ENST00000510354.1_Missense_Mutation_p.D9Y|CENPK_ENST00000508421.1_5'UTR	NM_022145.4	NP_071428.2	Q9BS16	CENPK_HUMAN	centromere protein K	9					CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleoplasm				breast(1)|endometrium(1)|large_intestine(3)|lung(5)	10		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)		Lung(70;0.00466)		GTAGTACTATCCGGATCTAGA	0.313000													66	39					1.25742e-37	2.43035e-37	0.003610	1	0
MIR548M	100313772	broad.mit.edu	37	X	94318156	94318156	+	RNA	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chrX:94318156C>A	ENST00000408260.1	-	0	69					NR_031667.1																						taggttggtgcaaaggtattt	0.333000													13	16					2.27111e-07	2.79507e-07	0.001368	1	0
FER1L6	654463	broad.mit.edu	37	8	125074109	125074109	+	Missense_Mutation	SNP	A	A	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr8:125074109A>G	ENST00000522917.1	+	25	3370	c.3164A>G	c.(3163-3165)gAg>gGg	p.E1055G	FER1L6_ENST00000399018.1_Missense_Mutation_p.E1055G|FER1L6-AS2_ENST00000520031.1_RNA	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	1055	C2 4.					integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			CCTGAGAACGAGCTTCTGCAC	0.567000													11	42					0	0	0.000978	0	0
IL17RA	23765	broad.mit.edu	37	22	17578800	17578800	+	Missense_Mutation	SNP	G	G	A	rs147495146	byFrequency	TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr22:17578800G>A	ENST00000319363.6	+	3	410	c.277G>A	c.(277-279)Gtg>Atg	p.V93M	IL17RA_ENST00000477874.1_3'UTR	NM_014339.5	NP_055154.3	Q96F46	I17RA_HUMAN	interleukin 17 receptor A	93					fibroblast activation|positive regulation of interleukin-23 production	integral to plasma membrane	interleukin-17 receptor activity			endometrium(2)|large_intestine(8)|lung(16)|ovary(1)|skin(2)|stomach(1)	30		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)		Colorectal(9;0.241)		CCTGTTCCCCGTGGCTCACAT	0.612000													28	31					0	0	0.008361	0	0
TACC2	10579	broad.mit.edu	37	10	123987514	123987514	+	Silent	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr10:123987514G>T	ENST00000369005.1	+	14	8227	c.7887G>T	c.(7885-7887)gcG>gcT	p.A2629A	TACC2_ENST00000515603.1_Silent_p.A2584A|TACC2_ENST00000369004.3_Silent_p.A719A|TACC2_ENST00000369000.1_Silent_p.A329A|TACC2_ENST00000358010.1_Silent_p.A775A|TACC2_ENST00000453444.2_Silent_p.A2633A|TACC2_ENST00000360561.3_Silent_p.A707A|TACC2_ENST00000368999.1_Silent_p.A719A|TACC2_ENST00000513429.1_Silent_p.A775A|TACC2_ENST00000334433.3_Silent_p.A2629A|TACC2_ENST00000515273.1_Silent_p.A2633A|TACC2_ENST00000369001.1_Silent_p.A333A|TACC2_ENST00000260733.3_Silent_p.A707A	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	2629						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				CTTCAGAAGCGATTGAAATTG	0.572000													99	56					9.07443e-57	1.7797e-56	0.003610	1	0
KCNB1	3745	broad.mit.edu	37	20	47989796	47989796	+	Silent	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr20:47989796G>T	ENST00000371741.4	-	2	2467	c.2301C>A	c.(2299-2301)ctC>ctA	p.L767L		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	767					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			CCACACTGTAGAGCAGCTGTC	0.562000													203	226					1.9191e-90	3.80963e-90	0.003610	1	0
RPTN	126638	broad.mit.edu	37	1	152127334	152127334	+	Silent	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:152127334G>T	ENST00000316073.3	-	3	2305	c.2241C>A	c.(2239-2241)acC>acA	p.T747T		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	747	Gln-rich.					proteinaceous extracellular matrix	calcium ion binding			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						CATGTTCATGGGTTTGTCTGT	0.522000													144	218					2.40396e-54	4.70843e-54	0.003610	1	0
CAMK2D	817	broad.mit.edu	37	4	114680554	114680554	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr4:114680554C>A	ENST00000454265.2	-	2	940	c.82G>T	c.(82-84)Gtg>Ttg	p.V28L	CAMK2D_ENST00000511664.1_Missense_Mutation_p.V28L|CAMK2D_ENST00000394524.3_Missense_Mutation_p.V28L|CAMK2D_ENST00000429180.1_Missense_Mutation_p.V28L|CAMK2D_ENST00000394526.2_Missense_Mutation_p.V28L|CAMK2D_ENST00000342666.5_Missense_Mutation_p.V28L|CAMK2D_ENST00000394522.3_Missense_Mutation_p.V28L|CAMK2D_ENST00000509907.1_5'UTR|CAMK2D_ENST00000505990.1_Missense_Mutation_p.V28L|CAMK2D_ENST00000296402.5_Missense_Mutation_p.V28L|CAMK2D_ENST00000418639.2_Missense_Mutation_p.V28L|CAMK2D_ENST00000379773.2_Missense_Mutation_p.V28L|CAMK2D_ENST00000508738.1_Missense_Mutation_p.V28L|CAMK2D_ENST00000514328.1_Missense_Mutation_p.V28L|CAMK2D_ENST00000515496.1_Missense_Mutation_p.V28L			Q13557	KCC2D_HUMAN	calcium/calmodulin-dependent protein kinase II delta	28	Protein kinase.				interferon-gamma-mediated signaling pathway|regulation of cell growth|synaptic transmission	calcium- and calmodulin-dependent protein kinase complex|cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	13		Ovarian(17;0.00369)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000271)		CATCTTCTCACCACTGAGAAT	0.328000													36	76					1.47197e-15	2.32441e-15	0.007835	1	0
STT3B	201595	broad.mit.edu	37	3	31638349	31638349	+	Silent	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr3:31638349C>T	ENST00000295770.2	+	4	980	c.771C>T	c.(769-771)ttC>ttT	p.F257F	STT3B_ENST00000453168.1_3'UTR	NM_178862.1	NP_849193.1	Q8TCJ2	STT3B_HUMAN	STT3B, subunit of the oligosaccharyltransferase complex (catalytic)	257					protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding			autonomic_ganglia(1)|biliary_tract(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	19						TATCCTATTTCTATATGGTAA	0.313000													4	39					0	0	0.009096	0	0
CDH8	1006	broad.mit.edu	37	16	61687943	61687943	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr16:61687943C>A	ENST00000577390.1	-	12	2923	c.1969G>T	c.(1969-1971)Gat>Tat	p.D657Y	CDH8_ENST00000577730.1_Missense_Mutation_p.D657Y|CDH8_ENST00000299345.6_Missense_Mutation_p.D657Y	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	657					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		ACGTCTTCATCATCTTTGATA	0.403000													25	60					1.96895e-08	2.52487e-08	0.002780	1	0
NFRKB	4798	broad.mit.edu	37	11	129745269	129745269	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr11:129745269C>G	ENST00000446488.3	-	17	1940	c.1837G>C	c.(1837-1839)Gat>Cat	p.D613H	NFRKB_ENST00000304521.5_Missense_Mutation_p.D613H|NFRKB_ENST00000524794.1_Missense_Mutation_p.D638H|NFRKB_ENST00000524746.1_Missense_Mutation_p.D613H	NM_001143835.1	NP_001137307.1	Q6P4R8	NFRKB_HUMAN	nuclear factor related to kappaB binding protein	613					DNA recombination|DNA repair|inflammatory response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Ino80 complex	DNA binding|protease binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(13)|ovary(4)|skin(3)|urinary_tract(1)	32	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184)		CTGGTGACATCTGGTGCAAGA	0.448000													5	9					0	0	0.001168	0	0
FOLH1B	219595	broad.mit.edu	37	11	89402584	89402584	+	RNA	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr11:89402584G>T	ENST00000532352.1	+	0	821							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B						proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						AAAATGGGTGGCTCAGCACCA	0.388000													10	34					0.00136819	0.00147259	0.001368	1	0
CSGALNACT2	55454	broad.mit.edu	37	10	43651075	43651075	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr10:43651075G>T	ENST00000374466.3	+	2	813	c.478G>T	c.(478-480)Gaa>Taa	p.E160*	CSGALNACT2_ENST00000374464.1_Nonsense_Mutation_p.E160*	NM_018590.3	NP_061060.3	Q8N6G5	CGAT2_HUMAN	chondroitin sulfate N-acetylgalactosaminyltransferase 2	160					chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process	Golgi cisterna membrane|integral to Golgi membrane	glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding			endometrium(12)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						ATTTCAATTGGAAATGGGTCT	0.408000													21	58					9.95505e-16	1.57711e-15	0.002299	1	0
HNRNPUL1	11100	broad.mit.edu	37	19	41774165	41774165	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr19:41774165C>A	ENST00000392006.3	+	2	506	c.333C>A	c.(331-333)taC>taA	p.Y111*	HNRNPUL1_ENST00000378215.4_Nonsense_Mutation_p.Y68*|HNRNPUL1_ENST00000263367.3_Nonsense_Mutation_p.Y22*|HNRNPUL1_ENST00000594207.1_3'UTR|HNRNPUL1_ENST00000602130.1_Nonsense_Mutation_p.Y111*|HNRNPUL1_ENST00000595018.1_Nonsense_Mutation_p.Y11*|HNRNPUL1_ENST00000593587.1_Nonsense_Mutation_p.Y11*|HNRNPUL1_ENST00000352456.3_Nonsense_Mutation_p.Y11*	NM_007040.3	NP_008971.2	Q9BUJ2	HNRL1_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 1	111					nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	enzyme binding|RNA binding	p.Y111Y(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	29						ACCAATTCTACGATACCCAAG	0.453000													13	29					0.00244969	0.00261741	0.002450	1	0
LPPR5	163404	broad.mit.edu	37	1	99470069	99470069	+	Silent	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:99470069G>T	ENST00000370188.3	-	1	519	c.159C>A	c.(157-159)ccC>ccA	p.P53P	RP5-896L10.1_ENST00000425113.1_RNA|LPPR5_ENST00000263177.4_Silent_p.P53P	NM_001010861.2	NP_001010861.1	Q32ZL2	LPPR5_HUMAN		53						integral to membrane	hydrolase activity										GGCCCGGGTAGGGTTTGCGGT	0.687000													7	23					5.18039e-06	6.05549e-06	0.003080	1	0
SLC35D3	340146	broad.mit.edu	37	6	137245529	137245529	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr6:137245529G>T	ENST00000331858.4	+	2	1111	c.946G>T	c.(946-948)Gcc>Tcc	p.A316S		NM_001008783.1	NP_001008783.1	Q5M8T2	S35D3_HUMAN	solute carrier family 35, member D3	316					carbohydrate transport	integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	13	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000136)|OV - Ovarian serous cystadenocarcinoma(155;0.00365)		GGACCTGGAGGCCCAGCCTCG	0.602000													13	13					9.31168e-06	1.07986e-05	0.001855	1	0
IGHV4OR15-8	28317	broad.mit.edu	37	15	22473194	22473194	+	RNA	SNP	G	G	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr15:22473194G>C	ENST00000557788.2	-	0	76																											TCCTGGGCCCGACTCCTGCAG	0.617000													5	77					0	0	0.006214	0	0
DDN	23109	broad.mit.edu	37	12	49390664	49390664	+	Missense_Mutation	SNP	A	A	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr12:49390664A>C	ENST00000421952.2	-	2	2016	c.1995T>G	c.(1993-1995)agT>agG	p.S665R		NM_015086.1	NP_055901.2	O94850	DEND_HUMAN	dendrin	665	Interaction with CD2AP and NPHS1 (By similarity).					dendritic spine membrane|endoplasmic reticulum membrane|nucleus|perikaryon				NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)	8						CCTCTGGCGAACTGTTTCCAA	0.607000											OREG0021778	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	39					0	0	0.004672	0	0
DSCAM	1826	broad.mit.edu	37	21	41684166	41684166	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr21:41684166C>A	ENST00000400454.1	-	9	2381	c.1904G>T	c.(1903-1905)cGg>cTg	p.R635L		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	635	Ig-like C2-type 7.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				AGGGATTGGCCGGCCATCCTT	0.522000													7	35					5.18039e-06	6.05549e-06	0.003080	1	0
NBPF10	100132406	broad.mit.edu	37	1	145367739	145367739	+	Silent	SNP	A	A	G	rs146714035	by1000genomes	TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:145367739A>G	ENST00000342960.5	+	83	10370	c.10335A>G	c.(10333-10335)aaA>aaG	p.K3445K	NBPF10_ENST00000369339.2_Intron|NBPF10_ENST00000369338.1_Intron	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	3445								p.K3445K(4)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		ggaaggggaaaaaaagaaggg	0.413000													4	50					0	0	0.009096	0	0
MROH7	374977	broad.mit.edu	37	1	55136487	55136487	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:55136487C>T	ENST00000414150.2	+	7	1762	c.1484C>T	c.(1483-1485)aCc>aTc	p.T495I	MROH7_ENST00000545244.1_Missense_Mutation_p.T63I|MROH7_ENST00000409996.1_Missense_Mutation_p.T63I|MROH7_ENST00000395690.2_Missense_Mutation_p.T495I|MROH7_ENST00000421030.2_Missense_Mutation_p.T495I|MROH7_ENST00000339553.5_Missense_Mutation_p.T495I|MROH7_ENST00000454855.2_Missense_Mutation_p.T13I					maestro heat-like repeat family member 7																		ACCCAGCCCACCCTGGGCATG	0.622000													10	23					0	0	0.008291	0	0
WNK3	65267	broad.mit.edu	37	X	54337693	54337693	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chrX:54337693C>A	ENST00000354646.2	-	3	1007	c.569G>T	c.(568-570)aGa>aTa	p.R190I	WNK3_ENST00000375169.3_Missense_Mutation_p.R190I|WNK3_ENST00000375159.2_Missense_Mutation_p.R190I	NM_020922.4	NP_065973.2	Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3	190	Protein kinase.				intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation	adherens junction|tight junction	ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity			autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						TTCCTTGAATCTTTGCTGCTC	0.358000													10	32					2.27111e-07	2.79507e-07	0.001368	1	0
RYR3	6263	broad.mit.edu	37	15	34078113	34078113	+	Silent	SNP	G	G	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr15:34078113G>C	ENST00000389232.4	+	66	9589	c.9519G>C	c.(9517-9519)ctG>ctC	p.L3173L	RYR3_ENST00000415757.3_Silent_p.L3173L	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	3173					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GTCTCATCCTGGGCAACATTC	0.577000													25	94					0	0	0.003954	0	0
TRUB1	142940	broad.mit.edu	37	10	116719515	116719515	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr10:116719515G>T	ENST00000298746.3	+	4	533	c.472G>T	c.(472-474)Gct>Tct	p.A158S	TRUB1_ENST00000485065.1_3'UTR	NM_139169.4	NP_631908.1	Q8WWH5	TRUB1_HUMAN	TruB pseudouridine (psi) synthase family member 1	158					pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding			breast(2)|kidney(2)|large_intestine(1)|lung(5)|urinary_tract(2)	12		Colorectal(252;0.09)|Breast(234;0.174)|Lung NSC(174;0.245)		Epithelial(162;0.00879)|all cancers(201;0.0243)		ACTGGGGAAAGCTACTGATAC	0.413000													57	23					7.10663e-31	1.3487e-30	0.003610	1	0
ZNF365	22891	broad.mit.edu	37	10	64429973	64429973	+	Nonsense_Mutation	SNP	T	T	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr10:64429973T>A	ENST00000410046.3	+	8	1581	c.1301T>A	c.(1300-1302)tTg>tAg	p.L434*	ZNF365_ENST00000395251.1_Nonsense_Mutation_p.L188*|ZNF365_ENST00000395249.1_Nonsense_Mutation_p.L40*	NM_199451.2	NP_955523.1	Q70YC4	TALAN_HUMAN	zinc finger protein 365	188										breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	Prostate(12;0.0297)|all_hematologic(501;0.228)					ATAGGCAAATTGACAATCATC	0.448000													61	138					0	0	0.003610	0	0
ZNF41	7592	broad.mit.edu	37	X	47308861	47308861	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chrX:47308861C>A	ENST00000377065.4	-	5	947	c.308G>T	c.(307-309)gGg>gTg	p.G103V	ZNF41_ENST00000465311.1_5'UTR|ZNF41_ENST00000313116.7_Missense_Mutation_p.G103V|ZNF41_ENST00000397050.2_Missense_Mutation_p.G113V	NM_153380.2	NP_700359.1	P51814	ZNF41_HUMAN	zinc finger protein 41	145	KRAB.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|upper_aerodigestive_tract(2)	24		all_lung(315;0.000129)				CTGCATTTTCCCAATAGCCTC	0.388000													6	13					8.12818e-05	9.08845e-05	0.001984	1	0
KCNJ12	3768	broad.mit.edu	37	17	21319527	21319527	+	Missense_Mutation	SNP	C	C	G	rs80022364	byFrequency	TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr17:21319527C>G	ENST00000583088.1	+	3	1768	c.873C>G	c.(871-873)gaC>gaG	p.D291E	KCNJ12_ENST00000331718.5_Missense_Mutation_p.D291E	NM_021012.4	NP_066292.2			potassium inwardly-rectifying channel, subfamily J, member 12											NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)		TGGAGACGGACGACTTTGAGA	0.617000										Prostate(3;0.18)			25	49					0	0	0.003954	0	0
SIGLEC12	89858	broad.mit.edu	37	19	52004799	52004799	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr19:52004799C>A	ENST00000291707.3	-	1	244	c.189G>T	c.(187-189)tgG>tgT	p.W63C		NM_053003.2	NP_443729.1	Q96PQ1	SIG12_HUMAN	sialic acid binding Ig-like lectin 12 (gene/pseudogene)	63	Ig-like V-type 1.				cell adhesion	integral to membrane	sugar binding			NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)	61		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)		CTGCCCGGAACCAGTAGCCAT	0.592000													15	17					3.45872e-05	3.94552e-05	0.004007	1	0
SMARCA2	6595	broad.mit.edu	37	9	2115969	2115969	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr9:2115969G>T	ENST00000382203.1	+	25	3813	c.3604G>T	c.(3604-3606)Ggc>Tgc	p.G1202C	SMARCA2_ENST00000382194.1_Missense_Mutation_p.G1202C|SMARCA2_ENST00000349721.2_Missense_Mutation_p.G1202C|SMARCA2_ENST00000357248.2_Missense_Mutation_p.G1202C			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	1202	Helicase C-terminal.				chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		GATCCAGGCGGGCATGTTTGA	0.532000											OREG0019074	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	17	8					1.67942e-08	2.16114e-08	0.006122	1	0
ATP8B3	148229	broad.mit.edu	37	19	1795942	1795942	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr19:1795942C>G	ENST00000539485.1	-	18	2220	c.1987G>C	c.(1987-1989)Gac>Cac	p.D663H	ATP8B3_ENST00000525591.1_Missense_Mutation_p.D616H|ATP8B3_ENST00000310127.6_Missense_Mutation_p.D663H			O60423	AT8B3_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 3	663					ATP biosynthetic process		ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ATGACCGTGTCGGCGCCCTTG	0.627000											OREG0025127	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	23	14					0	0	0.004656	0	0
AKAP6	9472	broad.mit.edu	37	14	33068651	33068651	+	Silent	SNP	C	C	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr14:33068651C>G	ENST00000280979.4	+	6	2675	c.2505C>G	c.(2503-2505)ctC>ctG	p.L835L	AKAP6_ENST00000557272.1_Silent_p.L835L|AKAP6_ENST00000557354.1_Silent_p.L835L	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	835					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		ATTGTGCTCTCAAGGAAGCTG	0.393000													29	84					0	0	0.002445	0	0
C8B	732	broad.mit.edu	37	1	57406634	57406634	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:57406634C>A	ENST00000543257.1	-	10	1696	c.1130G>T	c.(1129-1131)gGa>gTa	p.G377V	C8B_ENST00000371237.4_Missense_Mutation_p.G429V|C8B_ENST00000535057.1_Missense_Mutation_p.G367V	NM_001278543.1	NP_001265472.1	P07358	CO8B_HUMAN	complement component 8, beta polypeptide	429	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						ACTTGCCCCTCCTCGTACCAG	0.587000													19	21					7.07596e-05	7.94826e-05	0.006122	1	0
PDZRN4	29951	broad.mit.edu	37	12	41585260	41585260	+	Splice_Site	SNP	G	G	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr12:41585260G>C	ENST00000402685.2	+	2	657	c.648_splice	c.e2-1	p.D217_splice		NM_001164595.1	NP_001158067.1	Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	217							ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				TTTTTTCTAGGATGGAGAGCA	0.303000													9	46					0	0	0.006214	0	0
MYCBPAP	84073	broad.mit.edu	37	17	48603308	48603308	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr17:48603308G>T	ENST00000323776.5	+	14	2140	c.1978G>T	c.(1978-1980)Gcc>Tcc	p.A660S	MYCBPAP_ENST00000436259.2_Missense_Mutation_p.A623S	NM_032133.4	NP_115509.4	Q8TBZ2	MYBPP_HUMAN	MYCBP associated protein	623					cell differentiation|multicellular organismal development|spermatogenesis|synaptic transmission	cytoplasm|membrane	protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(8)|ovary(4)|pancreas(1)|skin(2)|urinary_tract(2)	31	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;1.23e-09)			GACCCTGCCCGCCAAGGCTGA	0.597000													47	121					1.61004e-24	2.9561e-24	0.003610	1	0
TECRL	253017	broad.mit.edu	37	4	65275046	65275046	+	Silent	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr4:65275046G>T	ENST00000381210.3	-	1	134	c.24C>A	c.(22-24)ctC>ctA	p.L8L	TECRL_ENST00000507440.1_Silent_p.L8L	NM_001010874.4	NP_001010874.2	Q5HYJ1	TECRL_HUMAN	trans-2,3-enoyl-CoA reductase-like	8					lipid metabolic process	cytoplasm|integral to membrane	oxidoreductase activity, acting on the CH-CH group of donors			endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1)	47						GTTCCGAAGCGAGGGACTTGT	0.393000													26	63					1.5548e-18	2.62171e-18	0.005443	1	0
MYLK4	340156	broad.mit.edu	37	6	2679563	2679563	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr6:2679563C>G	ENST00000274643.7	-	9	1180	c.838G>C	c.(838-840)Gtt>Ctt	p.V280L	MYLK4_ENST00000268446.5_Missense_Mutation_p.V280L	NM_001012418.3	NP_001012418.2	Q86YV6	MYLK4_HUMAN	myosin light chain kinase family, member 4	280	Protein kinase.						ATP binding|protein serine/threonine kinase activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(2)|skin(1)	23	Ovarian(93;0.0412)	all_hematologic(90;0.0897)				GGAAATGAAACAAAATCATAG	0.448000													29	281					0	0	0.002522	0	0
BRINP3	339479	broad.mit.edu	37	1	190067745	190067745	+	Silent	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr1:190067745C>A	ENST00000367462.3	-	8	1935	c.1704G>T	c.(1702-1704)gtG>gtT	p.V568V	FAM5C_ENST00000484105.1_5'UTR|FAM5C_ENST00000534846.1_Silent_p.V466V	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN		568						extracellular region				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					AAACAGCCAACACTGGCTCCA	0.453000													42	52					3.61848e-18	6.02248e-18	0.007835	1	0
VWA3B	200403	broad.mit.edu	37	2	98928447	98928447	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr2:98928447C>A	ENST00000477737.1	+	27	3891	c.3687C>A	c.(3685-3687)caC>caA	p.H1229Q	VWA3B_ENST00000490947.2_3'UTR	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	1229										NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						GCTCCTCCCACGGCATCAGCT	0.637000													5	8					0.00198382	0.00211529	0.001984	1	0
OR2L8	391190	broad.mit.edu	37	1	248112897	248112897	+	Silent	SNP	A	A	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr1:248112897A>T	ENST00000357191.3	+	1	738	c.738A>T	c.(736-738)gtA>gtT	p.V246V	OR2L13_ENST00000366478.2_Intron	NM_001001963.1	NP_001001963.1	Q8NGY9	OR2L8_HUMAN	olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene)	246					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3)	42	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			ACCTCACTGTAGTAACTTTCT	0.468000													27	102					0	0	0.009535	0	0
STAT2	6773	broad.mit.edu	37	12	56750051	56750051	+	Silent	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr12:56750051C>A	ENST00000314128.4	-	3	173	c.150G>T	c.(148-150)ggG>ggT	p.G50G	STAT2_ENST00000418572.2_Silent_p.G50G|STAT2_ENST00000557235.1_Silent_p.G50G			P52630	STAT2_HUMAN	signal transducer and activator of transcription 2, 113kDa	50					interspecies interaction between organisms|JAK-STAT cascade|regulation of transcription from RNA polymerase II promoter|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	cytosol|nucleoplasm|plasma membrane	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			NS(1)|endometrium(2)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|skin(3)	31						AATCATCACTCCCAAGTGCAG	0.507000													18	41					0.00074312	0.000802415	0.006122	1	0
SLC24A2	25769	broad.mit.edu	37	9	19619672	19619672	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr9:19619672G>C	ENST00000341998.2	-	3	1049	c.988C>G	c.(988-990)Cga>Gga	p.R330G	SLC24A2_ENST00000286344.3_Missense_Mutation_p.R330G	NM_001193288.2|NM_020344.3	NP_001180217.1|NP_065077.1	Q9UI40	NCKX2_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 2	330					visual perception	integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			endometrium(3)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33				GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443)		CTTCCACCTCGCTGGAGACGC	0.493000													20	81					0	0	0.008871	0	0
ASTN2	23245	broad.mit.edu	37	9	119903754	119903754	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr9:119903754G>A	ENST00000313400.4	-	4	1119	c.1019C>T	c.(1018-1020)gCa>gTa	p.A340V	ASTN2_ENST00000361209.2_Intron|ASTN2_ENST00000361477.3_Intron|ASTN2_ENST00000373996.3_Missense_Mutation_p.A340V			O75129	ASTN2_HUMAN	astrotactin 2	340						integral to membrane				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						CGCCTCAGCTGCTGCTATAAG	0.587000													16	9					0	0	0.004007	0	0
DCST1	149095	broad.mit.edu	37	1	155006533	155006533	+	Silent	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr1:155006533G>A	ENST00000295542.1	+	2	117	c.21G>A	c.(19-21)caG>caA	p.Q7Q	DCST1_ENST00000392480.1_Silent_p.Q7Q|DCST1_ENST00000368419.2_Silent_p.Q7Q|DCST1_ENST00000423025.2_Silent_p.Q7Q	NM_152494.3	NP_689707.2	Q5T197	DCST1_HUMAN	DC-STAMP domain containing 1	7						integral to membrane	zinc ion binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	27	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			AACATCATCAGAATGGCACAA	0.502000													9	51					0	0	0.008291	0	0
TOP3A	7156	broad.mit.edu	37	17	18205586	18205586	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr17:18205586C>T	ENST00000321105.5	-	7	1020	c.806G>A	c.(805-807)aGa>aAa	p.R269K	TOP3A_ENST00000542570.1_Missense_Mutation_p.R174K	NM_004618.3	NP_004609.1	Q13472	TOP3A_HUMAN	topoisomerase (DNA) III alpha	269					DNA topological change|meiosis	chromosome|PML body	ATP binding|DNA topoisomerase type I activity|protein binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(2)|urinary_tract(1)	36						ACCTTTAATTCTGTGGAAGAT	0.507000													5	23					0	0	0.001168	0	0
CTNNA2	1496	broad.mit.edu	37	2	80101463	80101463	+	Missense_Mutation	SNP	T	T	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr2:80101463T>G	ENST00000466387.1	+	10	1571	c.847T>G	c.(847-849)Ttt>Gtt	p.F283V	CTNNA2_ENST00000361291.4_Missense_Mutation_p.F317V|CTNNA2_ENST00000402739.4_Missense_Mutation_p.F283V|CTNNA2_ENST00000540488.1_Missense_Mutation_p.F283V|CTNNA2_ENST00000496558.1_Missense_Mutation_p.F283V|CTNNA2_ENST00000541047.1_Missense_Mutation_p.F283V			P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	283					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						TCTTAATGAGTTTGACGTAAG	0.527000													12	39					0	0	0.003163	0	0
FAR1	84188	broad.mit.edu	37	11	13734550	13734550	+	Missense_Mutation	SNP	A	A	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr11:13734550A>T	ENST00000354817.3	+	8	1069	c.925A>T	c.(925-927)Agc>Tgc	p.S309C	FAR1_ENST00000527202.1_3'UTR	NM_032228.5	NP_115604.1	Q8WVX9	FACR1_HUMAN	fatty acyl CoA reductase 1	309					ether lipid biosynthetic process	integral to membrane|peroxisomal matrix|peroxisomal membrane	protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	13						TACAACAGGCAGCACTAATCC	0.348000													25	95					0	0	0.006320	0	0
TNXB	7148	broad.mit.edu	37	6	32025888	32025888	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr6:32025888T>A	ENST00000375244.3	-	22	7973	c.7772A>T	c.(7771-7773)tAc>tTc	p.Y2591F	TNXB_ENST00000375247.2_Missense_Mutation_p.Y2591F			P22105	TENX_HUMAN	tenascin XB	2651	Fibronectin type-III 18.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GTGGAGGCCGTACAGGTGCAT	0.677000													13	63					0	0	0.001855	0	0
FMN2	56776	broad.mit.edu	37	1	240370183	240370183	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr1:240370183G>A	ENST00000319653.9	+	5	2301	c.2071G>A	c.(2071-2073)Gct>Act	p.A691T		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	691					actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			AACCAAAATAGCTGAACTAGA	0.517000													23	45					0	0	0.003330	0	0
GRAMD1C	54762	broad.mit.edu	37	3	113594425	113594425	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr3:113594425G>T	ENST00000358160.4	+	4	846	c.354G>T	c.(352-354)tgG>tgT	p.W118C	GRAMD1C_ENST00000452134.2_5'UTR|GRAMD1C_ENST00000479212.1_3'UTR	NM_017577.4	NP_060047.3	Q8IYS0	GRM1C_HUMAN	GRAM domain containing 1C	118	GRAM.					integral to membrane				NS(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	26						TCTTCAGATGGGAAACTACAG	0.338000													34	56					1.21669e-08	1.57161e-08	0.003271	1	0
OCRL	4952	broad.mit.edu	37	X	128692702	128692702	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chrX:128692702C>T	ENST00000371113.4	+	7	697	c.532C>T	c.(532-534)Cca>Tca	p.P178S	OCRL_ENST00000486673.1_3'UTR|OCRL_ENST00000357121.5_Missense_Mutation_p.P178S	NM_000276.3	NP_000267.2	Q01968	OCRL_HUMAN	oculocerebrorenal syndrome of Lowe	178					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	clathrin-coated vesicle|cytosol|early endosome|Golgi stack|Golgi-associated vesicle	GTPase activator activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding			breast(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|upper_aerodigestive_tract(3)	48						TCGGGAACCCCCACCTCCACC	0.348000													17	41					0	0	0.004990	0	0
SETD2	29072	broad.mit.edu	37	3	47098323	47098323	+	Silent	SNP	T	T	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr3:47098323T>G	ENST00000409792.3	-	15	6993	c.6951A>C	c.(6949-6951)ccA>ccC	p.P2317P		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	2317	Gln-rich.|Low charge region.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		GTACAATTGGTGGAGTTGTCT	0.403000			"""N, F, S, Mis"""		clear cell renal carcinoma								23	14					0	0	0.003954	0	0
DNAH3	55567	broad.mit.edu	37	16	21033322	21033322	+	Nonsense_Mutation	SNP	G	G	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr16:21033322G>C	ENST00000261383.3	-	40	5746	c.5747C>G	c.(5746-5748)tCa>tGa	p.S1916*	DNAH3_ENST00000415178.1_Intron	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1916					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)		TCTCATCATTGAGAAGGCAAG	0.458000													12	44					0	0	0.001368	0	0
ZNF91	7644	broad.mit.edu	37	19	23545248	23545248	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr19:23545248C>T	ENST00000300619.7	-	4	738	c.533G>A	c.(532-534)gGa>gAa	p.G178E	ZNF91_ENST00000397082.2_Missense_Mutation_p.G146E|ZNF91_ENST00000599743.1_Intron	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	178						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding						all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				GCATTTCTTTCCAGTATGTCT	0.318000													15	7					0	0	0.004007	0	0
ZNF514	84874	broad.mit.edu	37	2	95818903	95818903	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr2:95818903C>A	ENST00000295208.2	-	3	558	c.96G>T	c.(94-96)gaG>gaT	p.E32D	ZNF514_ENST00000411425.1_Missense_Mutation_p.E32D	NM_032788.1	NP_116177.1	Q96K75	ZN514_HUMAN	zinc finger protein 514	32	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(4)|lung(6)|urinary_tract(1)	11						TCCTGAAGTTCTCCAGCATCA	0.527000													39	39					1.04594e-18	1.76517e-18	0.006230	1	0
ZNF226	7769	broad.mit.edu	37	19	44679853	44679853	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr19:44679853G>T	ENST00000590089.1	+	7	805	c.438G>T	c.(436-438)gaG>gaT	p.E146D	ZNF226_ENST00000337433.5_Missense_Mutation_p.E146D|ZNF226_ENST00000588883.1_3'UTR|ZNF226_ENST00000454662.2_Missense_Mutation_p.E146D			Q9NYT6	ZN226_HUMAN	zinc finger protein 226	146					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding						Prostate(69;0.0352)|all_neural(266;0.202)				CTGAAGATGAGAACTATATAG	0.398000													7	37					8.12818e-05	9.0327e-05	0.001984	1	0
KARS	3735	broad.mit.edu	37	16	75668121	75668121	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr16:75668121C>A	ENST00000319410.5	-	8	1070	c.949G>T	c.(949-951)Gag>Tag	p.E317*	KARS_ENST00000302445.3_Nonsense_Mutation_p.E289*|KARS_ENST00000568378.1_Intron	NM_001130089.1	NP_001123561.1	Q15046	SYK_HUMAN	lysyl-tRNA synthetase	289					interspecies interaction between organisms|lysyl-tRNA aminoacylation|tRNA processing	cytosol|extracellular region|mitochondrial matrix|nucleus|plasma membrane|soluble fraction	ATP binding|lysine-tRNA ligase activity|metal ion binding|tRNA binding			kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	18					L-Lysine(DB00123)	ATGTCCAGCTCGTTGTGATAA	0.428000													41	71					2.59497e-14	3.96363e-14	0.007835	1	0
DOCK5	80005	broad.mit.edu	37	8	25226140	25226140	+	Missense_Mutation	SNP	A	A	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr8:25226140A>T	ENST00000276440.7	+	33	3381	c.3337A>T	c.(3337-3339)Act>Tct	p.T1113S		NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	1113						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		TCTGGAGGTCACTCTGACCCC	0.403000													9	32					0	0	0.004482	0	0
IGHM	3507	broad.mit.edu	37	14	106321610	106321610	+	RNA	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr14:106321610C>T	ENST00000390559.2	-	0	623																											AGGACGCATTCTGCTGGAAGG	0.637000													21	10					0	0	0.003330	0	0
NPIPB15	440348	broad.mit.edu	37	16	74425527	74425527	+	Missense_Mutation	SNP	T	T	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr16:74425527T>G	ENST00000429990.1	+	7	977	c.881T>G	c.(880-882)gTg>gGg	p.V294G						nuclear pore complex interacting protein family, member B15																		CCACCCTCAGTGGATGATAAT	0.507000													19	129					0	0	0.003330	0	0
COL20A1	57642	broad.mit.edu	37	20	61937328	61937328	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr20:61937328G>T	ENST00000422202.1	+	4	501	c.433G>T	c.(433-435)Gac>Tac	p.D145Y	COL20A1_ENST00000326996.6_Missense_Mutation_p.D145Y|COL20A1_ENST00000358894.6_Missense_Mutation_p.D145Y|COL20A1_ENST00000435874.1_Missense_Mutation_p.D145Y			Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	145					cell adhesion	collagen|extracellular space	structural molecule activity			NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					GGGGAGCCCAGACCCTGAGCA	0.647000													25	30					3.6726e-16	5.85675e-16	0.003954	1	0
VPS18	57617	broad.mit.edu	37	15	41192839	41192839	+	Missense_Mutation	SNP	G	G	T	rs34865655	byFrequency	TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr15:41192839G>T	ENST00000220509.5	+	4	2162	c.1823G>T	c.(1822-1824)cGc>cTc	p.R608L	VPS18_ENST00000558474.1_Intron	NM_020857.2	NP_065908.1	Q9P253	VPS18_HUMAN	vacuolar protein sorting 18 homolog (S. cerevisiae)	608					endosome organization|lysosome organization|protein transport	HOPS complex|late endosome membrane|lysosomal membrane	metal ion binding|protein binding			autonomic_ganglia(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	28		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)		CACATCCCCCGCCAGCTTGTA	0.632000													32	47					1.55811e-20	2.70197e-20	0.008361	1	0
NAA11	84779	broad.mit.edu	37	4	80246951	80246951	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr4:80246951C>A	ENST00000286794.4	-	1	253	c.81G>T	c.(79-81)caG>caT	p.Q27H		NM_032693.2	NP_116082.1	Q9BSU3	NAA11_HUMAN	N(alpha)-acetyltransferase 11, NatA catalytic subunit	27	Interaction with NAA15 (By similarity).|N-acetyltransferase.					cytoplasm|nucleus	peptide alpha-N-acetyltransferase activity|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|skin(2)	23						AGTATTTCATCTGGTAGTTCT	0.488000													29	27					6.07407e-21	1.05712e-20	0.007291	1	0
GALNT8	26290	broad.mit.edu	37	12	4873214	4873214	+	Splice_Site	SNP	G	G	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr12:4873214G>C	ENST00000252318.2	+	9	1930		c.e9+1			NM_017417.1	NP_059113.1	Q9NY28	GALT8_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8)							Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	35						CAGCTCACAGGTATCTTCCAC	0.522000													10	46					0	0	0.008291	0	0
RPGR	6103	broad.mit.edu	37	X	38150672	38150672	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chrX:38150672C>T	ENST00000378505.2	-	12	1656	c.1480G>A	c.(1480-1482)Gga>Aga	p.G494R	RPGR_ENST00000309513.3_Missense_Mutation_p.G432R|RPGR_ENST00000338898.3_Intron|TM4SF2_ENST00000465127.1_Intron|RPGR_ENST00000318842.7_Missense_Mutation_p.G494R|RPGR_ENST00000342811.3_Missense_Mutation_p.G494R|RPGR_ENST00000339363.3_Missense_Mutation_p.G494R	NM_001034853.1	NP_001030025.1	Q92834	RPGR_HUMAN	retinitis pigmentosa GTPase regulator	494					intracellular protein transport|response to stimulus|visual perception	Golgi apparatus|photoreceptor outer segment	guanyl-nucleotide exchange factor activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	25						GTAGTTTCTCCAAGGCTTTCT	0.299000													14	40					0	0	0.003163	0	0
USP29	57663	broad.mit.edu	37	19	57640799	57640799	+	Silent	SNP	T	T	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr19:57640799T>C	ENST00000254181.4	+	4	1210	c.756T>C	c.(754-756)aaT>aaC	p.N252N	USP29_ENST00000598197.1_Silent_p.N252N	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	252					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		ATGCCAAAAATGGTTTGACAT	0.468000													11	52					0	0	0.008291	0	0
PTPRC	5788	broad.mit.edu	37	1	198675957	198675957	+	Silent	SNP	T	T	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr1:198675957T>C	ENST00000367376.2	+	9	945	c.774T>C	c.(772-774)tgT>tgC	p.C258C	PTPRC_ENST00000594404.1_Silent_p.C97C|PTPRC_ENST00000348564.6_Silent_p.C99C|PTPRC_ENST00000442510.2_Silent_p.C260C|PTPRC_ENST00000352140.3_Silent_p.C210C	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	258					axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						ATGTGGAATGTGGAAACAATA	0.313000													45	67					0	0	0.003214	0	0
KRT79	338785	broad.mit.edu	37	12	53217717	53217717	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr12:53217717C>A	ENST00000330553.5	-	6	1134	c.1100G>T	c.(1099-1101)cGc>cTc	p.R367L		NM_175834.2	NP_787028.1	Q5XKE5	K2C79_HUMAN	keratin 79	367	Coil 2.|Rod.					keratin filament	structural molecule activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CTGGATAGTGCGGGTGAGCTC	0.607000													16	32					6.94344e-10	9.2155e-10	0.006122	1	0
NXPE1	120400	broad.mit.edu	37	11	114401418	114401418	+	Silent	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr11:114401418G>A	ENST00000536312.1	-	6	1204	c.312C>T	c.(310-312)acC>acT	p.T104T	NXPE1_ENST00000251921.2_5'UTR|NXPE1_ENST00000424269.1_Silent_p.T104T					neurexophilin and PC-esterase domain family, member 1																		GGTTGAGGATGGTGGCTGTGC	0.517000													14	101					0	0	0.002450	0	0
FAT1	2195	broad.mit.edu	37	4	187628590	187628590	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr4:187628590C>A	ENST00000441802.2	-	2	2601	c.2392G>T	c.(2392-2394)Ggg>Tgg	p.G798W		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	798	Cadherin 6.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TGGGGTATCCCAAGGTCATAG	0.433000										HNSCC(5;0.00058)			51	28					2.3441e-25	4.32389e-25	0.003610	1	0
NAP1L2	4674	broad.mit.edu	37	X	72433876	72433876	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chrX:72433876T>A	ENST00000373517.3	-	1	808	c.453A>T	c.(451-453)agA>agT	p.R151S	NAP1L2_ENST00000536638.1_Missense_Mutation_p.R9S	NM_021963.3	NP_068798.1	Q9ULW6	NP1L2_HUMAN	nucleosome assembly protein 1-like 2	151					nucleosome assembly	chromatin assembly complex				NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3)	29	Renal(35;0.156)					TGATCTGACGTCTTTTTTCCA	0.378000													37	77					0	0	0.003755	0	0
TRIM61	391712	broad.mit.edu	37	4	165891118	165891118	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr4:165891118C>T	ENST00000329314.5	-	3	649	c.37G>A	c.(37-39)Gag>Aag	p.E13K		NM_001012414.2	NP_001012414.1	Q5EBN2	TRI61_HUMAN	tripartite motif containing 61	13						intracellular	zinc ion binding			NS(1)|kidney(1)|liver(1)|skin(1)|upper_aerodigestive_tract(1)	5	all_hematologic(180;0.221)	Prostate(90;0.109)		GBM - Glioblastoma multiforme(119;0.155)		CAGCTAGCCTCTGCTCGGAGG	0.473000													7	73					0	0	0.006214	0	0
SALL4	57167	broad.mit.edu	37	20	50407075	50407075	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr20:50407075C>A	ENST00000217086.4	-	2	2058	c.1947G>T	c.(1945-1947)atG>atT	p.M649I	SALL4_ENST00000371539.3_Intron|SALL4_ENST00000395997.3_Intron	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4	649					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TCTGACCGCCCATGTGCATCC	0.547000													37	39					7.04047e-22	1.24324e-21	0.005524	1	0
F9	2158	broad.mit.edu	37	X	138644187	138644187	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chrX:138644187C>A	ENST00000218099.2	+	8	1350	c.1343C>A	c.(1342-1344)tCc>tAc	p.S448Y	F9_ENST00000394090.2_Missense_Mutation_p.S410Y	NM_000133.3	NP_000124.1	P00740	FA9_HUMAN	coagulation factor IX	448	Peptidase S1.				blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen|plasma membrane	calcium ion binding|serine-type endopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|skin(1)	35	Acute lymphoblastic leukemia(192;0.000127)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Heparin(DB01109)|Menadione(DB00170)	ACCAAGGTATCCCGGTATGTC	0.378000													20	43					3.62473e-10	4.87789e-10	0.001882	1	0
SORCS1	114815	broad.mit.edu	37	10	108466379	108466379	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr10:108466379C>A	ENST00000263054.6	-	8	1164	c.1157G>T	c.(1156-1158)gGg>gTg	p.G386V	SORCS1_ENST00000344440.6_Missense_Mutation_p.G386V	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	386						integral to membrane	neuropeptide receptor activity|protein binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		ATGTGGCCGCCCTCCTGATGT	0.468000													7	46					1.6384e-10	2.22135e-10	0.001984	1	0
DCP1A	55802	broad.mit.edu	37	3	53326447	53326447	+	Silent	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr3:53326447C>T	ENST00000607628.1	-	7	1144	c.1035G>A	c.(1033-1035)gtG>gtA	p.V345V	DCP1A_ENST00000294241.6_Silent_p.V345V|DCP1A_ENST00000606822.1_Silent_p.V307V|DCP1A_ENST00000480258.1_5'UTR	NM_018403.5	NP_060873.4	Q9NPI6	DCP1A_HUMAN	decapping mRNA 1A	345					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytoplasmic mRNA processing body|cytosol|nucleus	hydrolase activity|protein binding			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10				BRCA - Breast invasive adenocarcinoma(193;0.000164)|KIRC - Kidney renal clear cell carcinoma(197;0.00525)|Kidney(197;0.00579)|OV - Ovarian serous cystadenocarcinoma(275;0.0647)		GCGTGGTCTTCACTGCCTGCA	0.587000													12	20					0	0	0.000978	0	0
PPAPDC1A	196051	broad.mit.edu	37	10	122334784	122334784	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr10:122334784G>C	ENST00000398250.1	+	6	939	c.587G>C	c.(586-588)cGc>cCc	p.R196P	PPAPDC1A_ENST00000398248.1_Intron|PPAPDC1A_ENST00000369073.3_Missense_Mutation_p.R186P|PPAPDC1A_ENST00000439221.1_Missense_Mutation_p.R133P|PPAPDC1A_ENST00000496437.1_3'UTR|PPAPDC1A_ENST00000541332.1_Missense_Mutation_p.R196P	NM_001030059.1	NP_001025230.1	Q5VZY2	PPC1A_HUMAN	phosphatidic acid phosphatase type 2 domain containing 1A	196	Phosphatase sequence motif III.				phospholipid dephosphorylation	integral to membrane	phosphatidate phosphatase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1)	20		Lung NSC(174;0.1)|all_lung(145;0.132)		all cancers(201;0.0117)		GCCCTGTCCCGCATGTGCGAC	0.607000													18	36					0	0	0.007413	0	0
LPIN1	23175	broad.mit.edu	37	2	11964914	11964914	+	Silent	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr2:11964914G>T	ENST00000256720.2	+	20	2763	c.2670G>T	c.(2668-2670)gcG>gcT	p.A890A	LPIN1_ENST00000425416.2_Silent_p.A896A|LPIN1_ENST00000396099.1_Silent_p.A932A|LPIN1_ENST00000449576.2_Silent_p.A975A|LPIN1_ENST00000396097.1_Silent_p.A620A|LPIN1_ENST00000404113.2_Silent_p.A391A	NM_145693.2	NP_663731.1	Q14693	LPIN1_HUMAN	lipin 1	890					fatty acid catabolic process|transcription, DNA-dependent|triglyceride biosynthetic process|triglyceride mobilization	cytosol|endoplasmic reticulum membrane	phosphatidate phosphatase activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(15)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	45	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173)		CTGCCTCAGCGTAAAATGTCC	0.517000													4	34					2.56e-06	2.99909e-06	0.009096	1	0
BBS2	583	broad.mit.edu	37	16	56536584	56536584	+	Splice_Site	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr16:56536584C>A	ENST00000245157.5	-	8	1361		c.e8+1		BBS2_ENST00000561951.1_Splice_Site|BBS2_ENST00000568104.1_Splice_Site	NM_031885.3	NP_114091.3	Q9BXC9	BBS2_HUMAN	Bardet-Biedl syndrome 2						adult behavior|brain morphogenesis|cerebral cortex development|cilium morphogenesis|fat cell differentiation|hippocampus development|melanosome transport|negative regulation of multicellular organism growth|photoreceptor cell maintenance|protein localization to organelle|regulation of cilium beat frequency involved in ciliary motility|sperm axoneme assembly|striatum development	BBSome|cilium membrane|microtubule basal body|motile cilium	protein binding			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)	26						TCCCAATTTACTTTCCCCATC	0.403000									Bardet-Biedl syndrome				33	85					1.60099e-16	2.56441e-16	0.004878	1	0
FREM1	158326	broad.mit.edu	37	9	14857621	14857621	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr9:14857621G>A	ENST00000380881.4	-	6	1573	c.758C>T	c.(757-759)cCt>cTt	p.P253L	FREM1_ENST00000380880.3_Missense_Mutation_p.P253L|FREM1_ENST00000422223.2_Missense_Mutation_p.P253L			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	253					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		GTTGGGTGAAGGGGGATCCAG	0.493000													26	110					0	0	0.005443	0	0
CENPF	1063	broad.mit.edu	37	1	214836933	214836933	+	Splice_Site	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr1:214836933G>T	ENST00000366955.3	+	20	9309		c.e20-1			NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa						cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		TTGTGTTGCAGGTCAAAGTTG	0.423000													15	15					2.35188e-11	3.29036e-11	0.006122	1	0
CDC42BPA	8476	broad.mit.edu	37	1	227504797	227504797	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr1:227504797C>A	ENST00000366769.3	-	1	1378	c.87G>T	c.(85-87)gaG>gaT	p.E29D	CDC42BPA_ENST00000366764.2_Missense_Mutation_p.E29D|CDC42BPA_ENST00000366765.3_Missense_Mutation_p.E29D|CDC42BPA_ENST00000366766.2_Missense_Mutation_p.E29D|CDC42BPA_ENST00000366767.3_Missense_Mutation_p.E29D|CDC42BPA_ENST00000334218.5_Missense_Mutation_p.E29D|CDC42BPA_ENST00000535525.1_Missense_Mutation_p.E29D	NM_003607.3	NP_003598.2	Q5VT25	MRCKA_HUMAN	CDC42 binding protein kinase alpha (DMPK-like)	29					actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77		all_cancers(173;0.156)|Prostate(94;0.0792)				CCAGTAATGTCTCCACACTGA	0.438000													20	49					1.28384e-07	1.58482e-07	0.001882	1	0
SLC6A15	55117	broad.mit.edu	37	12	85285772	85285772	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr12:85285772C>T	ENST00000450363.3	-	2	586	c.128G>A	c.(127-129)gGc>gAc	p.G43D	SLC6A15_ENST00000551388.1_Intron|SLC6A15_ENST00000552192.1_Intron|SLC6A15_ENST00000266682.5_Missense_Mutation_p.G43D	NM_018057.6	NP_060527.2	Q9H2J7	S6A15_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 15	43					cellular nitrogen compound metabolic process|leucine transport|proline transport	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			kidney(1)|large_intestine(18)|lung(15)|ovary(1)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	44						CTCTTCCTGGCCATCAACAAT	0.403000													54	102					0	0	0.003610	0	0
TP53	7157	broad.mit.edu	37	17	7574017	7574017	+	Missense_Mutation	SNP	C	C	A	rs121912664		TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr17:7574017C>A	ENST00000269305.4	-	10	1199	c.1010G>T	c.(1009-1011)cGc>cTc	p.R337L	TP53_ENST00000445888.2_Missense_Mutation_p.R337L|TP53_ENST00000413465.2_Intron|TP53_ENST00000420246.2_3'UTR|TP53_ENST00000359597.4_Intron|TP53_ENST00000455263.2_3'UTR	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	337	Interaction with CARM1.|Interaction with HIPK1 (By similarity).|Interaction with HIPK2.|Oligomerization.		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R337L(15)|p.0?(8)|p.R337H(4)|p.I332fs*5(1)|p.?(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CATCTCGAAGCGCTCACGCCC	0.527000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			11	11					7.03913e-09	9.1332e-09	0.001368	1	0
TMEM260	54916	broad.mit.edu	37	14	57083899	57083899	+	Splice_Site	SNP	A	A	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr14:57083899A>T	ENST00000261556.6	+	9	1063		c.e9-1		TMEM260_ENST00000536419.1_Splice_Site|TMEM260_ENST00000538838.1_Splice_Site|TMEM260_ENST00000553335.1_Splice_Site	NM_017799.3	NP_060269.3			transmembrane protein 260																		TATTTTTTGTAGGGACAGACA	0.264000													8	39					0	0	0.003080	0	0
DRD5	1816	broad.mit.edu	37	4	9784087	9784087	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr4:9784087C>A	ENST00000304374.2	+	1	830	c.434C>A	c.(433-435)cCc>cAc	p.P145H		NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN	dopamine receptor D5	145					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane				NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)	ATCTCCAGGCCCTTCCGCTAC	0.597000													9	17					1.12685e-05	1.29293e-05	0.004482	1	0
SLC45A1	50651	broad.mit.edu	37	1	8390674	8390674	+	Missense_Mutation	SNP	A	A	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr1:8390674A>G	ENST00000471889.1	+	5	1506	c.1121A>G	c.(1120-1122)gAc>gGc	p.D374G	SLC45A1_ENST00000481265.1_3'UTR|SLC45A1_ENST00000377479.2_Missense_Mutation_p.D408G|SLC45A1_ENST00000289877.8_Missense_Mutation_p.D374G			Q9Y2W3	S45A1_HUMAN	solute carrier family 45, member 1	374					carbohydrate transport	integral to membrane	symporter activity			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(2)	33	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		GCCAACATAGACAGCGTCCTC	0.662000													10	24					0	0	0.008291	0	0
GCSHP3	100329109	broad.mit.edu	37	2	206980921	206980921	+	RNA	SNP	G	G	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr2:206980921G>C	ENST00000453039.1	+	0	651					NR_033248.1																						GTGTCATCTTGATCAGCCAAC	0.358000													19	80					0	0	0.007413	0	0
C1orf54	79630	broad.mit.edu	37	1	150249030	150249030	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr1:150249030C>G	ENST00000369102.1	+	6	1060	c.290C>G	c.(289-291)aCa>aGa	p.T97R	C1orf54_ENST00000369099.3_Missense_Mutation_p.T97R|C1orf54_ENST00000369098.3_Missense_Mutation_p.T97R			Q8WWF1	CA054_HUMAN	chromosome 1 open reading frame 54	97						extracellular region				breast(1)|endometrium(1)|large_intestine(2)|lung(2)|urinary_tract(1)	7	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			AAACCAGTAACAACGGAACCT	0.493000													23	44					0	0	0.002780	0	0
OR13J1	392309	broad.mit.edu	37	9	35869804	35869804	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr9:35869804G>C	ENST00000377981.2	-	1	657	c.595C>G	c.(595-597)Ctg>Gtg	p.L199V		NM_001004487.1	NP_001004487.1	Q8NGT2	O13J1_HUMAN	olfactory receptor, family 13, subfamily J, member 1	199					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|large_intestine(1)|lung(3)|skin(1)	6	all_epithelial(49;0.169)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00494)|STAD - Stomach adenocarcinoma(86;0.194)			CCCGCCAGCAGGAAGTCTTCG	0.627000													13	17					0	0	0.001855	0	0
ADAM23	8745	broad.mit.edu	37	2	207454155	207454155	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr2:207454155C>A	ENST00000264377.3	+	21	2203	c.1875C>A	c.(1873-1875)ttC>ttA	p.F625L	ADAM23_ENST00000374416.1_Missense_Mutation_p.F625L|ADAM23_ENST00000374415.3_Missense_Mutation_p.F625L	NM_003812.2	NP_003803.1	O75077	ADA23_HUMAN	ADAM metallopeptidase domain 23	625					cell adhesion|central nervous system development|proteolysis	extracellular region|integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	51				LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)		CTGACAAGTTCTGCTATGAAA	0.443000													12	21					4.36969e-10	5.84779e-10	0.001855	1	0
PRR14	78994	broad.mit.edu	37	16	30666694	30666694	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr16:30666694G>C	ENST00000542965.2	+	8	1723	c.1267G>C	c.(1267-1269)Gag>Cag	p.E423Q	PRR14_ENST00000571654.1_3'UTR|PRR14_ENST00000300835.4_Missense_Mutation_p.E423Q			Q9BWN1	PRR14_HUMAN	proline rich 14	423										breast(3)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	18			Colorectal(24;0.103)			CAAAGGGAAGGAGCCAAGAGC	0.547000													15	67					0	0	0.004990	0	0
KNTC1	9735	broad.mit.edu	37	12	123087242	123087242	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr12:123087242C>T	ENST00000333479.7	+	46	4957	c.4780C>T	c.(4780-4782)Cac>Tac	p.H1594Y	KNTC1_ENST00000436959.3_5'UTR|KNTC1_ENST00000450485.2_Intron|KNTC1_ENST00000537348.1_Missense_Mutation_p.H19Y	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1	1594					cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole	protein binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		ACTGCCTTTTCACCTGATATT	0.363000													10	41					0	0	0.001368	0	0
DYNC2H1	79659	broad.mit.edu	37	11	103128397	103128397	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr11:103128397G>T	ENST00000375735.2	+	69	10666	c.10522G>T	c.(10522-10524)Gat>Tat	p.D3508Y	DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Missense_Mutation_p.D3515Y	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	3508					cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		CATTATTTCTGATTTGTCCAA	0.438000													7	16					0.00198382	0.00211529	0.001984	1	0
MTMR4	9110	broad.mit.edu	37	17	56586171	56586171	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr17:56586171C>T	ENST00000323456.5	-	6	449	c.325G>A	c.(325-327)Gag>Aag	p.E109K	MTMR4_ENST00000579925.1_Missense_Mutation_p.E109K	NM_004687.4	NP_004678.3	Q9NYA4	MTMR4_HUMAN	myotubularin related protein 4	109						cytoplasm|membrane	metal ion binding|protein tyrosine phosphatase activity			breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GAGAGCCACTCTTGGCACTGC	0.587000													9	43					0	0	0.008291	0	0
STXBP5	134957	broad.mit.edu	37	6	147680251	147680251	+	Silent	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr6:147680251G>T	ENST00000367481.3	+	21	2337	c.2229G>T	c.(2227-2229)cgG>cgT	p.R743R	STXBP5_ENST00000321680.6_Silent_p.R779R|STXBP5_ENST00000367480.3_Silent_p.R726R|STXBP5_ENST00000179882.6_Silent_p.R434R	NM_139244.4	NP_640337.3	Q5T5C0	STXB5_HUMAN	syntaxin binding protein 5 (tomosyn)	779					exocytosis|positive regulation of exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|nicotinic acetylcholine-gated receptor-channel complex|synaptic vesicle	syntaxin-1 binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	42		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)		GCCGATCACGGAGTTCAAGTG	0.388000													13	22					7.93312e-07	9.47004e-07	0.002450	1	0
SRSF4	6429	broad.mit.edu	37	1	29481229	29481229	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr1:29481229G>T	ENST00000373795.4	-	4	791	c.557C>A	c.(556-558)tCc>tAc	p.S186Y	SRSF4_ENST00000466448.1_5'UTR|SRSF4_ENST00000546138.1_Intron	NM_005626.4	NP_005617.2	Q08170	SRSF4_HUMAN	serine/arginine-rich splicing factor 4	186	Arg/Ser-rich (RS domain).				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nuclear speck	nucleotide binding|RNA binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(1)	27						CCGGCTTCTGGAGTAGGACCG	0.403000													19	25					9.95505e-16	1.56514e-15	0.002299	1	0
FAM3D	131177	broad.mit.edu	37	3	58622031	58622031	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr3:58622031G>T	ENST00000358781.2	-	9	885	c.575C>A	c.(574-576)cCc>cAc	p.P192H		NM_138805.2	NP_620160.1	Q96BQ1	FAM3D_HUMAN	family with sequence similarity 3, member D	192					negative regulation of insulin secretion	extracellular region	cytokine activity			large_intestine(1)|lung(2)	3				BRCA - Breast invasive adenocarcinoma(55;0.000225)|Kidney(10;0.000667)|KIRC - Kidney renal clear cell carcinoma(10;0.000802)|OV - Ovarian serous cystadenocarcinoma(275;0.169)		CTGCTCAAAGGGGCTTTTACC	0.572000													27	11					3.73808e-20	6.45912e-20	0.005443	1	0
APEX2	27301	broad.mit.edu	37	X	55033666	55033666	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chrX:55033666G>T	ENST00000374987.3	+	6	1421	c.1355G>T	c.(1354-1356)cGg>cTg	p.R452L		NM_014481.2	NP_055296.2	Q9UBZ4	APEX2_HUMAN	APEX nuclease (apurinic/apyrimidinic endonuclease) 2	452					cell cycle|DNA recombination|DNA repair	nucleus	DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|endonuclease activity|exonuclease activity|zinc ion binding			breast(1)|endometrium(8)|large_intestine(4)|lung(6)|prostate(1)|urinary_tract(1)	21						AAGGAGTTACGGACCTCATTC	0.587000								Other BER factors					9	26					0.00448238	0.0047135	0.004482	1	0
PCDH7	5099	broad.mit.edu	37	4	30725755	30725755	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr4:30725755G>T	ENST00000361762.2	+	1	3719	c.2711G>T	c.(2710-2712)tGc>tTc	p.C904F	PCDH7_ENST00000543491.1_Missense_Mutation_p.C904F	NM_002589.2	NP_002580.2	O60245	PCDH7_HUMAN	protocadherin 7	904					homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						GCAAGGTACTGCAGGTCCAAA	0.388000													22	250					1.22574e-08	1.57906e-08	0.002299	1	0
LOC100420587	100420587	broad.mit.edu	37	19	29215121	29215121	+	RNA	SNP	A	A	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr19:29215121A>T	ENST00000592347.1	-	0	420																											CTCAAGCAGCACCTTGAGCAC	0.438000													4	13					0	0	0.009096	0	0
FRG1B	284802	broad.mit.edu	37	20	29625891	29625891	+	Silent	SNP	C	C	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr20:29625891C>G	ENST00000278882.3	+	5	515	c.135C>G	c.(133-135)ggC>ggG	p.G45G	FRG1B_ENST00000439954.2_Silent_p.G50G|FRG1B_ENST00000358464.4_Silent_p.G45G																endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TGAAATCTGGCTATGGAAAAT	0.343000													5	101					0	0	0.001168	0	0
GPATCH3	63906	broad.mit.edu	37	1	27220829	27220829	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr1:27220829T>A	ENST00000361720.5	-	3	972	c.949A>T	c.(949-951)Act>Tct	p.T317S		NM_022078.2	NP_071361.2	Q96I76	GPTC3_HUMAN	G patch domain containing 3	317	Glu-rich.					intracellular	nucleic acid binding			endometrium(2)|large_intestine(1)|lung(11)|skin(1)	15		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.97e-51)|OV - Ovarian serous cystadenocarcinoma(117;9.55e-30)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|STAD - Stomach adenocarcinoma(196;0.000595)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|READ - Rectum adenocarcinoma(331;0.0419)		AGCTGCTCAGTGGTCCGCTCC	0.572000													25	91					0	0	0.006320	0	0
IQSEC2	23096	broad.mit.edu	37	X	53284096	53284096	+	Silent	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chrX:53284096C>T	ENST00000396435.3	-	4	1217	c.1017G>A	c.(1015-1017)agG>agA	p.R339R	IQSEC2_ENST00000375365.2_Silent_p.R134R|IQSEC2_ENST00000375368.5_Silent_p.R329R	NM_001111125.2	NP_001104595.1	Q5JU85	IQEC2_HUMAN	IQ motif and Sec7 domain 2	329	IQ.				regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(4)|skin(1)	29						CCCCATACTTCCTCTCCAGCA	0.592000													8	11					0	0	0.004482	0	0
FZD10	11211	broad.mit.edu	37	12	130648391	130648391	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr12:130648391G>T	ENST00000229030.4	+	1	1388	c.904G>T	c.(904-906)Gag>Tag	p.E302*	FZD10_ENST00000539839.1_Missense_Mutation_p.G269V			Q9ULW2	FZD10_HUMAN	frizzled family receptor 10	302					brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|vasculature development	cell projection|cell surface|cytoplasm|integral to plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1)	35	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)		TGTCATCCAGGAGGGACTGGA	0.647000													41	53					7.63091e-17	1.23321e-16	0.007835	1	0
CPS1	1373	broad.mit.edu	37	2	211464260	211464260	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr2:211464260G>T	ENST00000233072.5	+	14	1720	c.1524G>T	c.(1522-1524)atG>atT	p.M508I	CPS1_ENST00000451903.2_Missense_Mutation_p.M57I|CPS1_ENST00000430249.2_Missense_Mutation_p.M514I	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	508					carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		TTCTGGGCATGGGTGGCCAGA	0.443000													26	54					3.96558e-24	7.19569e-24	0.004656	1	0
ITGAX	3687	broad.mit.edu	37	16	31374645	31374645	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr16:31374645T>A	ENST00000268296.4	+	14	1781	c.1660T>A	c.(1660-1662)Tac>Aac	p.Y554N	ITGAX_ENST00000562522.1_Missense_Mutation_p.Y554N	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	554					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						GGGTGCTGTCTACCTGTTTCA	0.612000													31	108					0	0	0.002096	0	0
SOHLH2	54937	broad.mit.edu	37	13	36748981	36748981	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr13:36748981G>T	ENST00000379881.3	-	7	755	c.667C>A	c.(667-669)Cag>Aag	p.Q223K	SOHLH2_ENST00000554962.1_Missense_Mutation_p.Q300K|CCDC169-SOHLH2_ENST00000511166.1_Missense_Mutation_p.Q300K	NM_017826.2	NP_060296.2			spermatogenesis and oogenesis specific basic helix-loop-helix 2											autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;4.63e-08)|Epithelial(112;2.67e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00272)|BRCA - Breast invasive adenocarcinoma(63;0.00685)|GBM - Glioblastoma multiforme(144;0.0273)		GTACGCAGCTGCTCACAGCAA	0.383000													21	17					7.87624e-14	1.188e-13	0.002780	1	0
OR4C16	219428	broad.mit.edu	37	11	55340325	55340325	+	Missense_Mutation	SNP	A	A	T	rs146728227	by1000genomes	TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr11:55340325A>T	ENST00000314634.3	+	1	722	c.722A>T	c.(721-723)cAc>cTc	p.H241L		NM_001004701.2	NP_001004701.2	Q8NGL9	OR4CG_HUMAN	olfactory receptor, family 4, subfamily C, member 16 (gene/pseudogene)	241					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41		all_epithelial(135;0.0748)				TGTGTCTCCCACATCATTGTG	0.388000													15	35					0	0	0.002450	0	0
DOCK6	57572	broad.mit.edu	37	19	11363464	11363464	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr19:11363464C>A	ENST00000294618.7	-	3	314	c.303G>T	c.(301-303)aaG>aaT	p.K101N		NM_020812.3	NP_065863.2	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6	101					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						CCCACTCATCCTTGGGGATCC	0.642000													23	8					4.22769e-11	5.85249e-11	0.006320	1	0
BRCA2	675	broad.mit.edu	37	13	32936676	32936676	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr13:32936676C>T	ENST00000544455.1	+	17	8049	c.7822C>T	c.(7822-7824)Cca>Tca	p.P2608S	BRCA2_ENST00000380152.3_Missense_Mutation_p.P2608S	NM_000059.3	NP_000050.2	P51587	BRCA2_HUMAN	breast cancer 2, early onset	2608					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		GTGTGACACTCCAGGTGTGGA	0.358000			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			26	19					0	0	0.005443	0	0
ELAVL4	1996	broad.mit.edu	37	1	50666841	50666841	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr1:50666841C>A	ENST00000371824.1	+	7	1349	c.1092C>A	c.(1090-1092)caC>caA	p.H364Q	ELAVL4_ENST00000371823.4_Missense_Mutation_p.H378Q|ELAVL4_ENST00000371827.1_Missense_Mutation_p.H364Q|ELAVL4_ENST00000357083.4_Missense_Mutation_p.H381Q|ELAVL4_ENST00000371819.1_Missense_Mutation_p.H369Q|ELAVL4_ENST00000448907.2_Missense_Mutation_p.H367Q|ELAVL4_ENST00000371821.1_Missense_Mutation_p.H383Q			P26378	ELAV4_HUMAN	ELAV like neuron-specific RNA binding protein 4	378	RRM 3.				mRNA processing		AU-rich element binding|mRNA 3'-UTR binding|nucleotide binding			NS(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	32						ACAAAGCCCACAAGTCCTGAA	0.448000													7	20					0.00307968	0.00326216	0.003080	1	0
PLCL2	23228	broad.mit.edu	37	3	17052968	17052968	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr3:17052968G>A	ENST00000418129.2	+	2	2217	c.1752G>A	c.(1750-1752)atG>atA	p.M584I	PLCL2_ENST00000396755.2_Missense_Mutation_p.M584I|PLCL2_ENST00000432376.1_Missense_Mutation_p.M584I	NM_001144382.1	NP_001137854.1	Q9UPR0	PLCL2_HUMAN	phospholipase C-like 2	710					intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						CAGGACTGATGATGGACCTGA	0.468000													21	35					0	0	0.010504	0	0
LRRK2	120892	broad.mit.edu	37	12	40697792	40697792	+	Silent	SNP	A	A	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr12:40697792A>T	ENST00000298910.7	+	27	3691	c.3633A>T	c.(3631-3633)ctA>ctT	p.L1211L	LRRK2_ENST00000343742.2_Silent_p.L1211L	NM_198578.3	NP_940980.3	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1211					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				TTCAGTACCTACCAGGTCCCG	0.358000													35	49					0	0	0.008740	0	0
ZFP90	146198	broad.mit.edu	37	16	68598371	68598371	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr16:68598371G>A	ENST00000570495.1	+	5	1973	c.1681G>A	c.(1681-1683)Gcc>Acc	p.A561T	ZFP90_ENST00000563169.2_Missense_Mutation_p.A561T|ZFP90_ENST00000398253.2_Missense_Mutation_p.A561T|RP11-615I2.7_ENST00000571720.1_RNA			Q8TF47	ZFP90_HUMAN	ZFP90 zinc finger protein	561					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00233)|Epithelial(162;0.0184)|all cancers(182;0.0946)		CTGTGGGAAAGCCTTTAGTCA	0.433000													25	61					0	0	0.005443	0	0
ZNF680	340252	broad.mit.edu	37	7	63981790	63981790	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr7:63981790T>A	ENST00000309683.6	-	4	1493	c.1342A>T	c.(1342-1344)Acc>Tcc	p.T448S		NM_178558.4	NP_848653.2	Q8NEM1	ZN680_HUMAN	zinc finger protein 680	448					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	27		Lung NSC(55;0.118)|all_lung(88;0.243)				TTAGTAAGGGTTGAAAATAAA	0.363000													14	12					0	0	0.003163	0	0
ZNF217	7764	broad.mit.edu	37	20	52193540	52193540	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr20:52193540C>A	ENST00000371471.2	-	4	2188	c.1763G>T	c.(1762-1764)gGc>gTc	p.G588V	ZNF217_ENST00000302342.3_Missense_Mutation_p.G588V			O75362	ZN217_HUMAN	zinc finger protein 217	588					negative regulation of transcription, DNA-dependent	histone deacetylase complex	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)			GACAGCGCTGCCCAGAACATT	0.423000													26	90					4.72057e-08	5.93865e-08	0.003954	1	0
ADAMTS20	80070	broad.mit.edu	37	12	43777690	43777690	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr12:43777690G>C	ENST00000389420.3	-	30	4542	c.4543C>G	c.(4543-4545)Cag>Gag	p.Q1515E		NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1515	TSP type-1 12.					proteinaceous extracellular matrix	zinc ion binding	p.Q1515*(1)		breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		CGGGTGGACTGATCACACATT	0.507000													34	66					0	0	0.003271	0	0
ECE1	1889	broad.mit.edu	37	1	21605875	21605875	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr1:21605875C>A	ENST00000357071.4	-	1	167	c.53G>T	c.(52-54)cGg>cTg	p.R18L	ECE1_ENST00000436918.2_Intron|ECE1_ENST00000374893.6_Intron|ECE1_ENST00000264205.6_Intron|ECE1_ENST00000415912.2_Intron	NM_001113347.1	NP_001106818.1	P42892	ECE1_HUMAN	endothelin converting enzyme 1	0					bradykinin catabolic process|calcitonin catabolic process|ear development|embryonic digit morphogenesis|endothelin maturation|heart development|positive regulation of receptor recycling|substance P catabolic process	early endosome|external side of plasma membrane|integral to membrane|intrinsic to endosome membrane|membrane fraction|perinuclear region of cytoplasm|plasma membrane|Weibel-Palade body	metal ion binding|metalloendopeptidase activity|protein homodimerization activity			endometrium(5)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	25		Lung NSC(340;1.14e-05)|all_lung(284;1.23e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00147)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0183)|OV - Ovarian serous cystadenocarcinoma(117;4.83e-27)|COAD - Colon adenocarcinoma(152;1.36e-06)|GBM - Glioblastoma multiforme(114;1.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000162)|STAD - Stomach adenocarcinoma(196;0.00326)|KIRC - Kidney renal clear cell carcinoma(1967;0.00755)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.206)		CCCCGGGCCCCGCTTCCCTTG	0.687000													14	10					1.36491e-13	2.04173e-13	0.001855	1	0
STAT2	6773	broad.mit.edu	37	12	56750052	56750052	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr12:56750052C>A	ENST00000314128.4	-	3	172	c.149G>T	c.(148-150)gGg>gTg	p.G50V	STAT2_ENST00000418572.2_Missense_Mutation_p.G50V|STAT2_ENST00000557235.1_Missense_Mutation_p.G50V			P52630	STAT2_HUMAN	signal transducer and activator of transcription 2, 113kDa	50					interspecies interaction between organisms|JAK-STAT cascade|regulation of transcription from RNA polymerase II promoter|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	cytosol|nucleoplasm|plasma membrane	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			NS(1)|endometrium(2)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|skin(3)	31						ATCATCACTCCCAAGTGCAGC	0.502000													18	41					0.00074312	0.000802415	0.006122	1	0
CSMD2	114784	broad.mit.edu	37	1	34123566	34123566	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr1:34123566G>T	ENST00000373381.4	-	27	4603	c.4427C>A	c.(4426-4428)cCc>cAc	p.P1476H	CSMD2_ENST00000373388.2_5'UTR|CSMD2_ENST00000373380.1_Missense_Mutation_p.P349H	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1436	CUB 9.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TGGCGGGCTGGGCTGCCAGAA	0.592000													24	44					1.5548e-18	2.59971e-18	0.005443	1	0
SOX14	8403	broad.mit.edu	37	3	137483993	137483993	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr3:137483993G>T	ENST00000306087.1	+	1	415	c.367G>T	c.(367-369)Gag>Tag	p.E123*		NM_004189.3	NP_004180.1	O95416	SOX14_HUMAN	SRY (sex determining region Y)-box 14	123					negative regulation of transcription from RNA polymerase II promoter|nervous system development|transcription, DNA-dependent	nucleus	sequence-specific DNA binding			large_intestine(2)|lung(12)	14						GAGCGCGCCCGAGAAAGCCCG	0.706000													18	18					4.75885e-15	7.38565e-15	0.004990	1	0
OR10K1	391109	broad.mit.edu	37	1	158435542	158435542	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr1:158435542C>A	ENST00000289451.2	+	1	271	c.191C>A	c.(190-192)gCc>gAc	p.A64D		NM_001004473.1	NP_001004473.1	Q8NGX5	O10K1_HUMAN	olfactory receptor, family 10, subfamily K, member 1	64					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	27	all_hematologic(112;0.0378)					TTCTTCCTTGCCATCCTTTCT	0.478000													22	84					7.33532e-06	8.45664e-06	0.003954	1	0
STAB2	55576	broad.mit.edu	37	12	104049297	104049297	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr12:104049297C>A	ENST00000388887.2	+	15	1876	c.1672C>A	c.(1672-1674)Cca>Aca	p.P558T	RP11-341G23.2_ENST00000551905.1_RNA	NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	558	FAS1 2.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						CATTTTTGTTCCAAATAATGA	0.438000													17	43					6.49762e-13	9.43686e-13	0.006122	1	0
ASMT	438	broad.mit.edu	37	X	1742071	1742071	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chrX:1742071C>G	ENST00000381241.3	+	2	308	c.109C>G	c.(109-111)Ctc>Gtc	p.L37V	ASMT_ENST00000381233.3_Missense_Mutation_p.L37V|ASMT_ENST00000381229.4_Missense_Mutation_p.L37V	NM_001171038.1|NM_004043.2	NP_001164509.1|NP_004034.2	P46597	HIOM_HUMAN	acetylserotonin O-methyltransferase	37					melatonin biosynthetic process|translation	cytosol	acetylserotonin O-methyltransferase activity|S-methyltransferase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	16		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GTTTGACCTTCTCGCCGAGGC	0.637000													9	21					0	0	0.004482	0	0
OTUD7B	56957	broad.mit.edu	37	1	149921592	149921592	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr1:149921592C>G	ENST00000369135.3	-	9	1357	c.1063G>C	c.(1063-1065)Gat>Cat	p.D355H		NM_020205.2	NP_064590.2	Q6GQQ9	OTU7B_HUMAN	OTU domain containing 7B	355	Catalytic.|OTU.|TRAF-binding.				negative regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|microtubule cytoskeleton|nucleus	cysteine-type peptidase activity|DNA binding|protein binding|zinc ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247)			TGGGCCTGATCATAGGCGAGC	0.517000													17	56					0	0	0.008871	0	0
MIR519B	574469	broad.mit.edu	37	19	54198477	54198477	+	RNA	SNP	C	C	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr19:54198477C>G	ENST00000385090.1	+	0	11					NR_030191.1																						CATGCTGTGACCCTCTAGAGG	0.403000													35	81					0	0	0.008740	0	0
CES5A	221223	broad.mit.edu	37	16	55886934	55886934	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr16:55886934G>C	ENST00000521992.1	-	11	1364	c.1219C>G	c.(1219-1221)Ccg>Gcg	p.P407A	CES5A_ENST00000290567.9_Missense_Mutation_p.P378A|CES5A_ENST00000520435.1_Missense_Mutation_p.P348A|CES5A_ENST00000319165.9_Missense_Mutation_p.P378A|CES5A_ENST00000518005.1_Missense_Mutation_p.P272A|CES5A_ENST00000541580.1_5'UTR	NM_001190158.1	NP_001177087.1	Q6NT32	EST5A_HUMAN	carboxylesterase 5A	378						extracellular region	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity			breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						TACTGAGGCGGGATGTGCTGT	0.453000													14	34					0	0	0.001855	0	0
CSMD3	114788	broad.mit.edu	37	8	113484862	113484862	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr8:113484862C>A	ENST00000297405.5	-	32	5597	c.5353G>T	c.(5353-5355)Gga>Tga	p.G1785*	CSMD3_ENST00000455883.2_Nonsense_Mutation_p.G1681*|CSMD3_ENST00000352409.3_Nonsense_Mutation_p.G1785*|CSMD3_ENST00000343508.3_Nonsense_Mutation_p.G1745*	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1785	CUB 10.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CAATTATGTCCCACACTGTAA	0.363000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			10	69					4.68919e-08	5.9043e-08	0.008291	1	0
TTC38	55020	broad.mit.edu	37	22	46681155	46681155	+	Silent	SNP	G	G	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr22:46681155G>C	ENST00000381031.3	+	9	889	c.813G>C	c.(811-813)gcG>gcC	p.A271A	TTC38_ENST00000445282.2_Silent_p.A213A	NM_017931.2	NP_060401.2	Q5R3I4	TTC38_HUMAN	tetratricopeptide repeat domain 38	271							binding			endometrium(4)|large_intestine(3)|lung(4)|ovary(1)	12						ATGAGGCCGCGCTGACCATCT	0.468000													14	53					0	0	0.003163	0	0
PCDH11X	27328	broad.mit.edu	37	X	91090514	91090514	+	Nonsense_Mutation	SNP	T	T	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chrX:91090514T>A	ENST00000373094.1	+	1	856	c.11T>A	c.(10-12)tTg>tAg	p.L4*	PCDH11X_ENST00000298274.8_Nonsense_Mutation_p.L4*|PCDH11X_ENST00000504220.1_Nonsense_Mutation_p.L4*|PCDH11X_ENST00000406881.1_Nonsense_Mutation_p.L4*|PCDH11X_ENST00000373097.1_Nonsense_Mutation_p.L4*|PCDH11X_ENST00000361724.1_Nonsense_Mutation_p.L4*|PCDH11X_ENST00000395337.2_Nonsense_Mutation_p.L4*|PCDH11X_ENST00000373088.1_Nonsense_Mutation_p.L4*|PCDH11X_ENST00000361655.2_Nonsense_Mutation_p.L4*	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	4					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						ATGGACTTGTTGTCCGGGACG	0.463000													33	41					0	0	0.009535	0	0
SEMA5A	9037	broad.mit.edu	37	5	9054200	9054200	+	Splice_Site	SNP	T	T	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr5:9054200T>G	ENST00000382496.5	-	19	3353	c.2689_splice	c.e19+1	p.P896_splice		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	896	TSP type-1 6.				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						GCCGCTTACCTGGGCAGGGCT	0.537000													25	38					0	0	0.006320	0	0
MRGPRE	116534	broad.mit.edu	37	11	3249866	3249866	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr11:3249866C>T	ENST00000389832.5	-	2	470	c.164G>A	c.(163-165)aGa>aAa	p.R55K	MRGPRE_ENST00000436689.2_Missense_Mutation_p.R54K|AC109309.4_ENST00000418995.2_RNA			Q86SM8	MRGRE_HUMAN	MAS-related GPR, member E	54						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	19		Medulloblastoma(188;0.00106)|all_epithelial(84;0.00111)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00529)|LUSC - Lung squamous cell carcinoma(625;0.19)		GAAGGGGTTTCTGTAGACATT	0.632000													26	59					0	0	0.005443	0	0
NCF2	4688	broad.mit.edu	37	1	183546792	183546792	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr1:183546792C>A	ENST00000413720.1	-	3	582	c.308G>T	c.(307-309)gGg>gTg	p.G103V	NCF2_ENST00000367535.3_Missense_Mutation_p.G103V|NCF2_ENST00000418089.1_Missense_Mutation_p.G103V|NCF2_ENST00000367536.1_Missense_Mutation_p.G103V	NM_001190794.1	NP_001177723.1	P19878	NCF2_HUMAN	neutrophil cytosolic factor 2	103					cellular defense response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex|nucleolus	electron carrier activity|protein C-terminus binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30						CAGCTGGTTCCCTCGAAGCTG	0.488000													12	70					4.36969e-10	5.84779e-10	0.001855	1	0
KLC2	64837	broad.mit.edu	37	11	66029663	66029663	+	Splice_Site	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr11:66029663G>A	ENST00000394065.2	+	2	1130	c.112_splice	c.e2+1	p.A38_splice	KLC2_ENST00000394067.2_Splice_Site_p.A177_splice|KLC2_ENST00000421552.1_Splice_Site_p.A100_splice|KLC2_ENST00000394066.2_Splice_Site_p.A100_splice|KLC2_ENST00000417856.1_Splice_Site_p.A177_splice|KLC2_ENST00000316924.5_Splice_Site_p.A177_splice|KLC2_ENST00000394078.1_Splice_Site_p.A177_splice			Q9H0B6	KLC2_HUMAN	kinesin light chain 2	177					blood coagulation	cytosol|kinesin complex|microtubule	microtubule motor activity|protein binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	24						GCAGAGCCCAGGTGCGGATGG	0.572000													11	21					0	0	0.008291	0	0
DNAAF1	123872	broad.mit.edu	37	16	84199407	84199407	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr16:84199407G>T	ENST00000378553.5	+	7	1006	c.882G>T	c.(880-882)tgG>tgT	p.W294C	DNAAF1_ENST00000334315.5_Missense_Mutation_p.W294C|DNAAF1_ENST00000563818.1_3'UTR	NM_178452.4	NP_848547.4	Q8NEP3	DAAF1_HUMAN	dynein, axonemal, assembly factor 1	294	LRRCT.				axonemal dynein complex assembly|cilium morphogenesis	cilium axoneme|cytoplasm|spindle pole	dynein binding			NS(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(4)|urinary_tract(1)	41						CGGAGGCCTGGGCTAGGGGAG	0.483000													27	66					5.60225e-13	8.18573e-13	0.009535	1	0
MUC17	140453	broad.mit.edu	37	7	100677982	100677982	+	Silent	SNP	T	T	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr7:100677982T>A	ENST00000306151.4	+	3	3349	c.3285T>A	c.(3283-3285)acT>acA	p.T1095T		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1095	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CAACCTCAACTTATAGTGAAG	0.507000													240	108					0	0	0.003610	0	0
SPINK5	11005	broad.mit.edu	37	5	147470781	147470781	+	Missense_Mutation	SNP	A	A	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr5:147470781A>C	ENST00000359874.3	+	8	729	c.656A>C	c.(655-657)aAt>aCt	p.N219T	SPINK5_ENST00000476608.1_3'UTR|SPINK5_ENST00000398454.1_Missense_Mutation_p.N219T|SPINK5_ENST00000256084.7_Missense_Mutation_p.N219T	NM_001127698.1	NP_001121170.1	Q9NQ38	ISK5_HUMAN	serine peptidase inhibitor, Kazal type 5	219	Kazal-like 4.				anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation	cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm	serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATTCGACGAAATGCTGAAAAG	0.333000													6	9					0	0	0.001984	0	0
THEG	51298	broad.mit.edu	37	19	375944	375944	+	Silent	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr19:375944G>T	ENST00000342640.4	-	1	69	c.27C>A	c.(25-27)ctC>ctA	p.L9L	THEG_ENST00000346878.2_Silent_p.L9L	NM_016585.4	NP_057669.1	Q9P2T0	THEG_HUMAN	theg spermatid protein	9					cell differentiation|chaperone-mediated protein complex assembly|multicellular organismal development|spermatogenesis	nucleus	protein binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)|soft_tissue(1)	29		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCTGGTTCCCGAGTGACCTTC	0.687000													10	15					3.86212e-05	4.34189e-05	0.008291	1	0
SRP54	6729	broad.mit.edu	37	14	35478009	35478009	+	Missense_Mutation	SNP	A	A	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr14:35478009A>T	ENST00000556994.1	+	8	854	c.457A>T	c.(457-459)Acc>Tcc	p.T153S	SRP54_ENST00000216774.6_Missense_Mutation_p.T153S|SRP54_ENST00000546080.1_Missense_Mutation_p.T104S|SRP54_ENST00000555557.1_Missense_Mutation_p.T89S			P61011	SRP54_HUMAN	signal recognition particle 54kDa	153	G-domain.				GTP catabolic process|response to drug|SRP-dependent cotranslational protein targeting to membrane, signal sequence recognition|SRP-dependent cotranslational protein targeting to membrane, translocation	cytosol|nuclear speck|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding|drug binding|endoplasmic reticulum signal peptide binding|GDP binding|GTP binding|nucleoside-triphosphatase activity|ribonucleoprotein binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	14	Breast(36;0.0545)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;2.48e-05)|Lung(238;3.13e-05)|Epithelial(34;0.0314)|all cancers(34;0.0797)|BRCA - Breast invasive adenocarcinoma(188;0.243)	GBM - Glioblastoma multiforme(112;0.0396)		ACAGAATGCTACCAAAGCAAG	0.279000													46	28					0	0	0.003610	0	0
PCDHB3	56132	broad.mit.edu	37	5	140482553	140482553	+	Missense_Mutation	SNP	T	T	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr5:140482553T>G	ENST00000231130.2	+	1	2320	c.2320T>G	c.(2320-2322)Ttc>Gtc	p.F774V		NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN		774					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TATCCCCAACTTCGTTGCTCA	0.517000													25	39					0	0	0.004289	0	0
SLC9C1	285335	broad.mit.edu	37	3	111898518	111898518	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr3:111898518C>T	ENST00000305815.5	-	23	3031	c.2779G>A	c.(2779-2781)Gat>Aat	p.D927N	SLC9C1_ENST00000487372.1_Missense_Mutation_p.D879N	NM_183061.1	NP_898884.1	Q4G0N8	S9A10_HUMAN	solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1	927					cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis	cilium|flagellar membrane|integral to membrane	solute:hydrogen antiporter activity										ACCATTTGATCAATCCCTAAA	0.338000													6	44					0	0	0.001168	0	0
LMAN1L	79748	broad.mit.edu	37	15	75115996	75115996	+	Silent	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr15:75115996C>A	ENST00000309664.5	+	12	1435	c.1296C>A	c.(1294-1296)ctC>ctA	p.L432L	RP11-414J4.2_ENST00000564823.1_RNA|LMAN1L_ENST00000379709.3_Silent_p.L420L	NM_021819.2	NP_068591.2	Q9HAT1	LMA1L_HUMAN	lectin, mannose-binding, 1 like	432						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						TCCTGGGCCTCCTGCAGGAGG	0.617000													20	23					1.50039e-11	2.11339e-11	0.001882	1	0
WNK3	65267	broad.mit.edu	37	X	54334508	54334508	+	Silent	SNP	A	A	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chrX:54334508A>G	ENST00000354646.2	-	5	1374	c.936T>C	c.(934-936)acT>acC	p.T312T	WNK3_ENST00000375169.3_Silent_p.T312T|WNK3_ENST00000375159.2_Silent_p.T312T	NM_020922.4	NP_065973.2	Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3	312	Protein kinase.				intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation	adherens junction|tight junction	ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity			autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						TAAACTCAGGAGTTCCTACAA	0.388000													11	26					0	0	0.001368	0	0
DNAH10	196385	broad.mit.edu	37	12	124398903	124398903	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr12:124398903G>T	ENST00000409039.3	+	60	10051	c.10026G>T	c.(10024-10026)atG>atT	p.M3342I		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	3342					microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		ATGAGCTGATGCACCGGCGCG	0.597000													29	38					5.60225e-13	8.18573e-13	0.009535	1	0
POTEH	23784	broad.mit.edu	37	22	16287925	16287925	+	Translation_Start_Site	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr22:16287925G>T	ENST00000343518.6	-	0	12					NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H											NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						GTAGCCAGCAGATCGCGTCTA	0.532000													17	51					2.48551e-13	3.66498e-13	0.004990	1	0
FOLR2	2350	broad.mit.edu	37	11	71929695	71929695	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr11:71929695G>T	ENST00000449475.2	+	2	416	c.118G>T	c.(118-120)Gac>Tac	p.D40Y	FOLR2_ENST00000454954.2_Intron|FOLR2_ENST00000298223.6_Missense_Mutation_p.D23Y			P14207	FOLR2_HUMAN	folate receptor 2 (fetal)	23					folic acid transport	anchored to membrane|extracellular region|membrane fraction|plasma membrane	folic acid binding|receptor activity			breast(3)|large_intestine(3)|ovary(1)|skin(1)	8					Folic Acid(DB00158)	CAGTGCCCAGGACAGGACTGA	0.552000													4	18					0.000602214	0.000651724	0.000602	1	0
KIAA1755	85449	broad.mit.edu	37	20	36841559	36841559	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr20:36841559G>T	ENST00000279024.4	-	14	3759	c.3488C>A	c.(3487-3489)cCc>cAc	p.P1163H		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755	1163										breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				CTGCCTGGGGGGCTGCTGCCG	0.647000													37	34					8.16277e-20	1.4021e-19	0.006999	1	0
RASGRP4	115727	broad.mit.edu	37	19	38910548	38910548	+	Silent	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr19:38910548C>T	ENST00000454404.2	-	6	828	c.615G>A	c.(613-615)ctG>ctA	p.L205L	RASGRP4_ENST00000293062.9_Silent_p.L205L|RASGRP4_ENST00000586305.1_Silent_p.L191L|RASGRP4_ENST00000433821.2_Silent_p.L205L|RASGRP4_ENST00000587753.1_Silent_p.L205L|RASGRP4_ENST00000587738.1_Silent_p.L205L|RASGRP4_ENST00000426920.2_Silent_p.L205L	NM_001146205.1|NM_170604.2	NP_001139677.1|NP_733749.1	Q8TDF6	GRP4_HUMAN	RAS guanyl releasing protein 4	205	Ras-GEF.				activation of phospholipase C activity|cell growth|cell proliferation|myeloid cell differentiation|positive regulation of Ras protein signal transduction|regulation of G-protein coupled receptor protein signaling pathway|response to extracellular stimulus|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|membrane fraction|plasma membrane|soluble fraction	diacylglycerol binding|GTP-dependent protein binding|metal ion binding|Ras guanyl-nucleotide exchange factor activity			cervix(1)|kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|prostate(3)|skin(1)	23	all_cancers(60;4.21e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			GGTGCTGAGCCAGCTCCCCCG	0.647000													6	5					0	0	0.001168	0	0
CCT2	10576	broad.mit.edu	37	12	69991453	69991453	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr12:69991453C>G	ENST00000543146.2	+	12	1479	c.997C>G	c.(997-999)Caa>Gaa	p.Q333E	CCT2_ENST00000544368.2_Missense_Mutation_p.Q380E|CCT2_ENST00000299300.6_Missense_Mutation_p.Q380E	NM_001198842.1	NP_001185771.1	P78371	TCPB_HUMAN	chaperonin containing TCP1, subunit 2 (beta)	380					'de novo' posttranslational protein folding	nucleus	ATP binding|unfolded protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(1)	24	all_cancers(2;7.7e-106)|Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		Epithelial(6;2.72e-18)|GBM - Glioblastoma multiforme(2;2.58e-10)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			TGGTGCCACTCAACAAATTTT	0.393000													17	78					0	0	0.006122	0	0
TMEM198	130612	broad.mit.edu	37	2	220413950	220413950	+	Silent	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr2:220413950G>T	ENST00000344458.2	+	5	1404	c.819G>T	c.(817-819)cgG>cgT	p.R273R	TMEM198_ENST00000373883.3_Silent_p.R273R			Q66K66	TM198_HUMAN	transmembrane protein 198	273	Arg-rich.					integral to membrane				NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	16		Renal(207;0.0376)		Epithelial(149;6.49e-08)|all cancers(144;6.45e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		AGAAAAGGCGGAAAAAGAGAC	0.637000													19	82					5.35267e-07	6.44814e-07	0.007413	1	0
ALPK2	115701	broad.mit.edu	37	18	56204016	56204016	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr18:56204016G>T	ENST00000361673.3	-	5	3616	c.3403C>A	c.(3403-3405)Cag>Aag	p.Q1135K	RP11-1151B14.4_ENST00000591360.1_RNA	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	1135							ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						TGGACCCCCTGCTTTGTTTCA	0.478000													48	101					1.02067e-35	1.95752e-35	0.003610	1	0
PROX1	5629	broad.mit.edu	37	1	214170420	214170420	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr1:214170420G>T	ENST00000366958.4	+	2	1150	c.542G>T	c.(541-543)aGt>aTt	p.S181I	PROX1_ENST00000261454.4_Missense_Mutation_p.S181I|PROX1_ENST00000498508.2_Missense_Mutation_p.S181I|PROX1_ENST00000435016.1_Missense_Mutation_p.S181I	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN	prospero homeobox 1	181					aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis	cytoplasm|nucleus	DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		CATTCCCCCAGTGTGGCATTA	0.493000													26	33					4.87955e-14	7.37536e-14	0.005443	1	0
CLEC14A	161198	broad.mit.edu	37	14	38724207	38724207	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr14:38724207T>A	ENST00000342213.2	-	1	1367	c.1021A>T	c.(1021-1023)Aca>Tca	p.T341S		NM_175060.2	NP_778230.1	Q86T13	CLC14_HUMAN	C-type lectin domain family 14, member A	341						integral to membrane	sugar binding			breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)		GGAATAGATGTTACTGAATTG	0.537000													30	215					0	0	0.002445	0	0
DST	667	broad.mit.edu	37	6	56481478	56481478	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr6:56481478C>T	ENST00000370765.6	-	24	6894	c.6787G>A	c.(6787-6789)Gtt>Att	p.V2263I	DST_ENST00000370754.5_Intron|DST_ENST00000446842.2_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000370769.4_Intron|DST_ENST00000361203.3_Intron|DST_ENST00000312431.6_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000244364.6_Intron	NM_001723.5	NP_001714.1	Q03001	DYST_HUMAN	dystonin	1605					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TCTGGAGGAACACGAATGCCT	0.443000													18	111					0	0	0.006122	0	0
NOX1	27035	broad.mit.edu	37	X	100103634	100103634	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chrX:100103634G>C	ENST00000372966.3	-	12	1758	c.1553C>G	c.(1552-1554)gCt>gGt	p.A518G	NOX1_ENST00000372964.1_Intron|NOX1_ENST00000217885.5_Missense_Mutation_p.A469G|NOX1_ENST00000372960.4_Missense_Mutation_p.A481G	NM_007052.4|NM_013955.2	NP_008983.2|NP_039249.1	Q9Y5S8	NOX1_HUMAN	NADPH oxidase 1	518	Interaction with NOXO1.				angiogenesis|cell migration|electron transport chain|FADH2 metabolic process|hydrogen peroxide metabolic process|inflammatory response|intracellular pH elevation|positive regulation of integrin biosynthetic process|positive regulation of smooth muscle cell proliferation|positive regulation vascular endothelial growth factor production|respiratory burst|response to pH|signal transduction|superoxide anion generation	cell junction|early endosome|invadopodium membrane|NADPH oxidase complex	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|Rac GTPase binding|superoxide-generating NADPH oxidase activity|voltage-gated proton channel activity			cervix(1)|lung(3)|ovary(1)|skin(2)	7						GTGGGAGGTAGCTATTGTAGA	0.473000													13	58					0	0	0.002450	0	0
USH2A	7399	broad.mit.edu	37	1	216591863	216591863	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr1:216591863C>A	ENST00000366943.2	-	3	1030	c.644G>T	c.(643-645)aGt>aTt	p.S215I	USH2A_ENST00000307340.3_Missense_Mutation_p.S215I|USH2A_ENST00000366942.3_Missense_Mutation_p.S215I			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	215					maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CACCTGCACACTAAGATGAAT	0.333000										HNSCC(13;0.011)			19	50					5.26018e-13	7.70145e-13	0.001882	1	0
SLC6A10P	386757	broad.mit.edu	37	16	32890630	32890630	+	RNA	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr16:32890630C>A	ENST00000330048.5	-	0	3168					NR_003083.2																						TTTTTGTAGACCAGCGGCTTG	0.627000													12	13					4.3838e-07	5.30304e-07	0.001855	1	0
GOLGA3	2802	broad.mit.edu	37	12	133373220	133373220	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr12:133373220C>A	ENST00000204726.3	-	10	2563	c.2005G>T	c.(2005-2007)Gac>Tac	p.D669Y	GOLGA3_ENST00000537452.1_Missense_Mutation_p.D669Y|GOLGA3_ENST00000450791.2_Missense_Mutation_p.D669Y|GOLGA3_ENST00000545875.1_Missense_Mutation_p.D669Y|GOLGA3_ENST00000456883.2_Missense_Mutation_p.D669Y	NM_005895.3	NP_005886.2	Q08378	GOGA3_HUMAN	golgin A3	669	Gln-rich.				intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity			breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		CTCTGAAGGTCCTCCTCCACC	0.562000													132	292					3.19997e-73	6.2956e-73	0.003610	1	0
TSIX	9383	broad.mit.edu	37	X	73043709	73043709	+	RNA	SNP	G	G	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chrX:73043709G>C	ENST00000604411.1	+	0	31670				XIST_ENST00000429829.1_lincRNA	NR_003255.2																						ACTCTATAATGATAACATCAT	0.363000													8	24					0	0	0.003080	0	0
HCCS	3052	broad.mit.edu	37	X	11132993	11132993	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chrX:11132993G>T	ENST00000321143.4	+	3	341	c.139G>T	c.(139-141)Gag>Tag	p.E47*	HCCS_ENST00000380763.3_Nonsense_Mutation_p.E47*|HCCS_ENST00000380762.4_Nonsense_Mutation_p.E47*	NM_001122608.2|NM_001171991.2|NM_005333.4	NP_001116080.1|NP_001165462.1|NP_005324.3	P53701	CCHL_HUMAN	holocytochrome c synthase	47					organ morphogenesis|oxidation-reduction process	mitochondrial inner membrane	holocytochrome-c synthase activity|metal ion binding			kidney(1)|large_intestine(3)|lung(3)	7						CCCAACCTGTGAGAAGAAAAC	0.483000													26	43					6.32553e-13	9.22394e-13	0.004656	1	0
APOB	338	broad.mit.edu	37	2	21229575	21229575	+	Missense_Mutation	SNP	T	T	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr2:21229575T>C	ENST00000233242.1	-	26	10292	c.10165A>G	c.(10165-10167)Aga>Gga	p.R3389G		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	3389	Basic (possible receptor binding region).|Heparin-binding.|LDL receptor binding.				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	CCCCTTTTTCTTGTCAATCTT	0.403000													21	112					0	0	0.010504	0	0
F5	2153	broad.mit.edu	37	1	169492497	169492497	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr1:169492497C>A	ENST00000367796.3	-	21	6202	c.6001G>T	c.(6001-6003)Gct>Tct	p.A2001S	F5_ENST00000367797.3_Missense_Mutation_p.A1996S			P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	1996	F5/8 type C 1.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	GAACTGTAAGCTACATAGAAC	0.438000													42	39					2.64894e-19	4.49668e-19	0.003610	1	0
PIM2	11040	broad.mit.edu	37	X	48772330	48772330	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chrX:48772330G>C	ENST00000376509.4	-	4	751	c.562C>G	c.(562-564)Ctg>Gtg	p.L188V		NM_006875.3	NP_006866.2	Q9P1W9	PIM2_HUMAN	pim-2 oncogene	188	Protein kinase.				anti-apoptosis|cell proliferation|male meiosis|positive regulation of autophagy|positive regulation of I-kappaB kinase/NF-kappaB cascade|response to virus		ATP binding|protein serine/threonine kinase activity			lung(3)|stomach(1)	4						TCATGAAGCAGGGCACCAGAA	0.488000													7	38					0	0	0.001984	0	0
ALPK2	115701	broad.mit.edu	37	18	56204009	56204009	+	Missense_Mutation	SNP	A	A	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr18:56204009A>C	ENST00000361673.3	-	5	3623	c.3410T>G	c.(3409-3411)gTc>gGc	p.V1137G	RP11-1151B14.4_ENST00000591360.1_RNA	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	1137							ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						CTGCTGCTGGACCCCCTGCTT	0.483000													46	92					0	0	0.003214	0	0
TYR	7299	broad.mit.edu	37	11	88961112	88961112	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr11:88961112C>G	ENST00000263321.5	+	3	1660	c.1158C>G	c.(1156-1158)ttC>ttG	p.F386L		NM_000372.4	NP_000363.1	P14679	TYRO_HUMAN	tyrosinase	386					eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception	Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm	copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)			Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157)	ATCCTATCTTCCTTCTTCACC	0.408000													31	35					0	0	0.002445	0	0
MUC3A	4584	broad.mit.edu	37	7	100552541	100552541	+	Missense_Mutation	SNP	T	T	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr7:100552541T>C	ENST00000319509.7	+	1	1292	c.1292T>C	c.(1291-1293)gTg>gCg	p.V431A						mucin 3A, cell surface associated											breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						AACAGTTCTGTGATCCCCCTA	0.537000													57	47					0	0	0.003610	0	0
FAM129A	116496	broad.mit.edu	37	1	184764460	184764460	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr1:184764460C>A	ENST00000367511.3	-	14	2631	c.2438G>T	c.(2437-2439)gGg>gTg	p.G813V	FAM129A_ENST00000487074.1_5'UTR	NM_052966.2	NP_443198.1	Q9BZQ8	NIBAN_HUMAN	family with sequence similarity 129, member A	813	Glu-rich.				negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress	cytoplasm|nucleus|plasma membrane				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						TGGGAGCTCCCCCTCCATGGG	0.657000													24	58					9.39395e-14	1.41397e-13	0.006320	1	0
KLF5	688	broad.mit.edu	37	13	73636638	73636638	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr13:73636638C>T	ENST00000377687.4	+	2	1437	c.901C>T	c.(901-903)Ccc>Tcc	p.P301S	KLF5_ENST00000477333.1_3'UTR|KLF5_ENST00000539231.1_Missense_Mutation_p.P210S	NM_001730.3	NP_001721.2	Q13887	KLF5_HUMAN	Kruppel-like factor 5 (intestinal)	301			P -> S (in a colorectal cancer sample; somatic mutation).		transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	p.P301S(1)		breast(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Prostate(6;0.00187)|Breast(118;0.0735)		GBM - Glioblastoma multiforme(99;0.0011)		CACTTACTTTCCCCCGTCACC	0.512000													46	25					0	0	0.002522	0	0
TAS1R3	83756	broad.mit.edu	37	1	1267812	1267812	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr1:1267812G>A	ENST00000339381.5	+	3	933	c.901G>A	c.(901-903)Gag>Aag	p.E301K		NM_152228.1	NP_689414.1	Q7RTX0	TS1R3_HUMAN	taste receptor, type 1, member 3	301					detection of chemical stimulus involved in sensory perception of sweet taste|sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity	p.E301K(1)		kidney(2)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	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;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.88e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.146)	Aspartame(DB00168)	GGTGGCCAGCGAGGCCTGGCT	0.672000													8	8					0	0	0.004482	0	0
ATRX	546	broad.mit.edu	37	X	76938718	76938718	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chrX:76938718G>T	ENST00000373344.5	-	9	2244	c.2030C>A	c.(2029-2031)tCa>tAa	p.S677*	ATRX_ENST00000395603.3_Nonsense_Mutation_p.S639*|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	677					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	TTCTTCATCTGAATTAGATGT	0.373000			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						50	125					1.30916e-28	2.44919e-28	0.003610	1	0
ASXL3	80816	broad.mit.edu	37	18	31326557	31326557	+	Nonstop_Mutation	SNP	T	T	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr18:31326557T>C	ENST00000269197.5	+	12	6745	c.6745T>C	c.(6745-6747)Taa>Caa	p.*2249Q		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	0					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						GGTTGTACGATAAGAGCTGAG	0.453000													18	66					0	0	0.002780	0	0
NCOA4	8031	broad.mit.edu	37	10	51584853	51584853	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr10:51584853G>C	ENST00000452682.1	+	9	1252	c.1000G>C	c.(1000-1002)Gag>Cag	p.E334Q	NCOA4_ENST00000414907.2_Missense_Mutation_p.E152Q|NCOA4_ENST00000438493.1_Missense_Mutation_p.E334Q|NCOA4_ENST00000374087.4_Missense_Mutation_p.E318Q|NCOA4_ENST00000374082.1_Missense_Mutation_p.E318Q|NCOA4_ENST00000430396.2_Missense_Mutation_p.E218Q|NCOA4_ENST00000443446.1_Missense_Mutation_p.E318Q|NCOA4_ENST00000344348.6_Missense_Mutation_p.E318Q	NM_001145260.1	NP_001138732.1	Q13772	NCOA4_HUMAN	nuclear receptor coactivator 4	318					androgen receptor signaling pathway|male gonad development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	androgen receptor binding|transcription coactivator activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|skin(1)	5						GCGGAAGCCTGAGAATGGCAG	0.453000			T	RET	papillary thyroid								27	35					0	0	0.006320	0	0
OAS3	4940	broad.mit.edu	37	12	113405356	113405356	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr12:113405356G>C	ENST00000228928.7	+	13	3002	c.2823G>C	c.(2821-2823)aaG>aaC	p.K941N	RP1-71H24.1_ENST00000552784.1_RNA	NM_006187.2	NP_006178.2	Q9Y6K5	OAS3_HUMAN	2'-5'-oligoadenylate synthetase 3, 100kDa	941	OAS domain 3.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	microsome	ATP binding|nucleotidyltransferase activity|RNA binding			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|skin(2)	27						GCCCTACCAAGCTGAAGAGCC	0.567000													15	18					0	0	0.007413	0	0
HTATSF1	27336	broad.mit.edu	37	X	135593100	135593100	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chrX:135593100C>G	ENST00000535601.1	+	10	1618	c.1196C>G	c.(1195-1197)gCa>gGa	p.A399G	HTATSF1_ENST00000218364.4_Missense_Mutation_p.A399G	NM_001163280.1	NP_001156752.1	O43719	HTSF1_HUMAN	HIV-1 Tat specific factor 1	399	Mediates interaction with the P-TEFb complex.				regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|viral genome replication	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(3)|prostate(1)	30	Acute lymphoblastic leukemia(192;0.000127)					CCTTCTAGAGCAAGGCATTTT	0.483000													31	91					0	0	0.002445	0	0
PLEC	5339	broad.mit.edu	37	8	144991533	144991533	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr8:144991533C>T	ENST00000322810.4	-	32	13036	c.12867G>A	c.(12865-12867)atG>atA	p.M4289I	PLEC_ENST00000357649.2_Missense_Mutation_p.M4156I|PLEC_ENST00000527096.1_Missense_Mutation_p.M4175I|PLEC_ENST00000345136.3_Missense_Mutation_p.M4152I|PLEC_ENST00000354589.3_Missense_Mutation_p.M4152I|PLEC_ENST00000354958.2_Missense_Mutation_p.M4130I|PLEC_ENST00000436759.2_Missense_Mutation_p.M4179I|PLEC_ENST00000356346.3_Missense_Mutation_p.M4138I|PLEC_ENST00000398774.2_Missense_Mutation_p.M4120I	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	4289	Binding to intermediate filaments (By similarity).|Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CGTACACTGACATCTCCTTGC	0.622000													23	28					0	0	0.003954	0	0
NELL1	4745	broad.mit.edu	37	11	20959377	20959377	+	Missense_Mutation	SNP	T	T	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr11:20959377T>G	ENST00000298925.5	+	11	1280	c.1127T>G	c.(1126-1128)aTt>aGt	p.I376S	NELL1_ENST00000357134.5_Missense_Mutation_p.I348S|NELL1_ENST00000532434.1_Missense_Mutation_p.I348S|NELL1_ENST00000325319.5_Missense_Mutation_p.I291S			Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	348	VWFC 2.				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity			NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						GGCCAGCGGATTTTAACCAAG	0.408000													7	99					0	0	0.003080	0	0
ADCY5	111	broad.mit.edu	37	3	123019011	123019011	+	Silent	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr3:123019011G>A	ENST00000462833.1	-	15	4068	c.2856C>T	c.(2854-2856)gtC>gtT	p.V952V	ADCY5_ENST00000491190.1_Silent_p.V585V|ADCY5_ENST00000309879.5_Silent_p.V602V	NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN	adenylate cyclase 5	952					activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		CGAAGAGCGTGACACCTGGCA	0.622000													11	52					0	0	0.000978	0	0
RP1L1	94137	broad.mit.edu	37	8	10469162	10469162	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr8:10469162C>A	ENST00000382483.3	-	4	2669	c.2446G>T	c.(2446-2448)Ggg>Tgg	p.G816W		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	816					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		CCCACCGCCCCTTGCTCAGGC	0.692000													7	16					2.0095e-06	2.36181e-06	0.001984	1	0
ZC3H6	376940	broad.mit.edu	37	2	113089870	113089870	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr2:113089870G>T	ENST00000409871.1	+	12	3776	c.3375G>T	c.(3373-3375)caG>caT	p.Q1125H	ZC3H6_ENST00000343936.4_Missense_Mutation_p.Q1125H	NM_198581.2	NP_940983.2	P61129	ZC3H6_HUMAN	zinc finger CCCH-type containing 6	1125							nucleic acid binding|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(4)|prostate(2)	35						GTAAGGTTCAGGTCCCAGCAG	0.567000													11	26					1.58986e-06	1.87775e-06	0.008291	1	0
PTPRT	11122	broad.mit.edu	37	20	40710553	40710553	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr20:40710553C>T	ENST00000373198.3	-	31	4542	c.4307G>A	c.(4306-4308)cGt>cAt	p.R1436H	PTPRT_ENST00000373187.1_Missense_Mutation_p.R1414H|PTPRT_ENST00000373190.1_Missense_Mutation_p.R1413H|PTPRT_ENST00000373193.3_Missense_Mutation_p.R1417H|PTPRT_ENST00000373201.1_Missense_Mutation_p.R1404H|PTPRT_ENST00000373184.1_Missense_Mutation_p.R1424H|PTPRT_ENST00000356100.2_Missense_Mutation_p.R1423H	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	1414	Tyrosine-protein phosphatase 2.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				TTTGTTGTTACGCAGTGTTTT	0.507000													38	59					0	0	0.007835	0	0
DNAH9	1770	broad.mit.edu	37	17	11513774	11513774	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr17:11513774T>A	ENST00000262442.3	+	3	744	c.676T>A	c.(676-678)Tac>Aac	p.Y226N	DNAH9_ENST00000454412.2_Missense_Mutation_p.Y226N|DNAH9_ENST00000579828.1_Missense_Mutation_p.Y226N|DNAH9_ENST00000579406.1_3'UTR	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	226	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CAAATGGAGCTACCAAGTCCA	0.443000													5	30					0	0	0.000602	0	0
GPR158	57512	broad.mit.edu	37	10	25887426	25887426	+	Silent	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr10:25887426C>A	ENST00000376351.3	+	11	3230	c.2871C>A	c.(2869-2871)gcC>gcA	p.A957A	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	957						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						AAGATCCTGCCCCCCAAAACT	0.443000													28	32					2.61193e-14	3.98113e-14	0.009535	1	0
ADAMTS12	81792	broad.mit.edu	37	5	33576721	33576721	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr5:33576721G>T	ENST00000504830.1	-	19	3745	c.3410C>A	c.(3409-3411)aCt>aAt	p.T1137N	ADAMTS12_ENST00000352040.3_Missense_Mutation_p.T1052N	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1137	Spacer 2.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						CACAGGCCAAGTGATAGGGTT	0.478000										HNSCC(64;0.19)			17	55					1.02788e-11	1.45207e-11	0.004990	1	0
GRID1	2894	broad.mit.edu	37	10	87487652	87487652	+	Missense_Mutation	SNP	T	T	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr10:87487652T>G	ENST00000327946.7	-	10	1578	c.1493A>C	c.(1492-1494)aAc>aCc	p.N498T	GRID1_ENST00000536331.1_Missense_Mutation_p.N69T	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	498						cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106					L-Glutamic Acid(DB00142)	CCAGGAGGTGTTATGGAGCTG	0.552000										Multiple Myeloma(13;0.14)			11	63					0	0	0.008291	0	0
SETD1A	9739	broad.mit.edu	37	16	30975431	30975431	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr16:30975431G>T	ENST00000262519.8	+	6	1342	c.656G>T	c.(655-657)cGc>cTc	p.R219L		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	219					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck|Set1C/COMPASS complex	histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						TCCCGCCGCCGCTCTTCCTCT	0.622000													26	47					1.5548e-18	2.59971e-18	0.005443	1	0
DCHS1	8642	broad.mit.edu	37	11	6662136	6662136	+	Missense_Mutation	SNP	C	C	A	rs149950385		TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr11:6662136C>A	ENST00000299441.3	-	2	1120	c.709G>T	c.(709-711)Gcc>Tcc	p.A237S		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	237	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGGGCCTGGGCCCTCCGGGGG	0.597000													26	68					4.87955e-14	7.37536e-14	0.005443	1	0
ECEL1	9427	broad.mit.edu	37	2	233349214	233349214	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr2:233349214C>A	ENST00000304546.1	-	6	1362	c.1152G>T	c.(1150-1152)caG>caT	p.Q384H	ECEL1_ENST00000409941.1_Missense_Mutation_p.Q384H	NM_004826.2	NP_004817.2	O95672	ECEL1_HUMAN	endothelin converting enzyme-like 1	384					neuropeptide signaling pathway|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000771)|Lung(119;0.00213)|LUSC - Lung squamous cell carcinoma(224;0.00746)		GCTGCGACACCTGCTGCATGT	0.592000													75	84					7.62596e-35	1.45295e-34	0.003610	1	0
NAV3	89795	broad.mit.edu	37	12	78522533	78522533	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr12:78522533G>T	ENST00000397909.2	+	18	4501	c.4328G>T	c.(4327-4329)tGg>tTg	p.W1443L	NAV3_ENST00000228327.6_Missense_Mutation_p.W1443L|NAV3_ENST00000266692.7_Missense_Mutation_p.W1266L|NAV3_ENST00000536525.2_Missense_Mutation_p.W1443L			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1443	Ser-rich.					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						GGCAAAGAGTGGTTGCGTTCT	0.502000										HNSCC(70;0.22)			39	59					1.62957e-23	2.94217e-23	0.008740	1	0
NEU2	4759	broad.mit.edu	37	2	233899029	233899029	+	Silent	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr2:233899029C>A	ENST00000233840.3	+	2	405	c.405C>A	c.(403-405)acC>acA	p.T135T		NM_005383.2	NP_005374.2	Q9Y3R4	NEUR2_HUMAN	sialidase 2 (cytosolic sialidase)	135							exo-alpha-sialidase activity			endometrium(3)|large_intestine(2)|lung(10)|skin(2)|urinary_tract(1)	18		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0271)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0839)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0488)		ACGGGAGGACCTGGAGCTCCC	0.637000													9	32					3.86212e-05	4.34189e-05	0.008291	1	0
GPRASP1	9737	broad.mit.edu	37	X	101911151	101911151	+	Silent	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chrX:101911151G>A	ENST00000537097.1	+	6	3123	c.2310G>A	c.(2308-2310)agG>agA	p.R770R	GPRASP1_ENST00000415986.1_Silent_p.R770R|RP4-769N13.7_ENST00000602441.1_RNA|GPRASP1_ENST00000444152.1_Silent_p.R770R|GPRASP1_ENST00000361600.5_Silent_p.R770R	NM_001184727.1	NP_001171656.1	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting protein 1	770	Glu-rich.					cytoplasm	protein binding			NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						AAGAGTCCAGGCCAGAAGCTG	0.488000													24	72					0	0	0.002780	0	0
CCDC135	84229	broad.mit.edu	37	16	57765153	57765153	+	Nonsense_Mutation	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr16:57765153C>T	ENST00000360716.3	+	19	2829	c.2608C>T	c.(2608-2610)Cag>Tag	p.Q870*	CCDC135_ENST00000394337.4_Nonsense_Mutation_p.Q870*|CCDC135_ENST00000336825.8_Nonsense_Mutation_p.Q805*			Q8IY82	CC135_HUMAN	coiled-coil domain containing 135	870						cytoplasm				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						GGGGGAGCTCCAGAAAATATT	0.567000													14	26					0	0	0.004990	0	0
MEX3B	84206	broad.mit.edu	37	15	82336839	82336839	+	Silent	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr15:82336839C>T	ENST00000329713.4	-	2	807	c.372G>A	c.(370-372)cgG>cgA	p.R124R	MEX3B_ENST00000558133.1_3'UTR	NM_032246.3	NP_115622.2	Q6ZN04	MEX3B_HUMAN	mex-3 RNA binding family member B	124	KH 1.				protein autophosphorylation	cytoplasmic mRNA processing body|nucleus	calcium ion binding|RNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|upper_aerodigestive_tract(1)	19						TGATCTCCCTCCGAGCCATGG	0.622000													6	19					0	0	0.003080	0	0
AAR2	25980	broad.mit.edu	37	20	34827870	34827870	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr20:34827870C>A	ENST00000373932.3	+	2	426	c.80C>A	c.(79-81)cCc>cAc	p.P27H	AAR2_ENST00000320849.4_Missense_Mutation_p.P27H|AAR2_ENST00000397286.3_Missense_Mutation_p.P27H	NM_015511.3	NP_056326.2			AAR2 splicing factor homolog (S. cerevisiae)																		CTGAACATGCCCAAGGGAACA	0.582000													40	40					3.05275e-18	5.08674e-18	0.003214	1	0
RRAGB	10325	broad.mit.edu	37	X	55744767	55744767	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chrX:55744767G>A	ENST00000374941.4	+	1	596	c.7G>A	c.(7-9)Gaa>Aaa	p.E3K	RRAGB_ENST00000262850.7_Missense_Mutation_p.E3K	NM_006064.4	NP_006055.3	Q5VZM2	RRAGB_HUMAN	Ras-related GTP binding B	3					cellular protein localization|cellular response to amino acid stimulus|positive regulation of TOR signaling cascade|signal transduction	Golgi apparatus|lysosome|nucleus	GTP binding|protein binding			breast(1)|endometrium(3)|large_intestine(5)|lung(3)|pancreas(1)|prostate(1)	14						CGCAATGGAAGAATCTGACTC	0.463000											OREG0019812	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	14					0	0	0.000602	0	0
PDE3A	5139	broad.mit.edu	37	12	20807013	20807013	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr12:20807013G>A	ENST00000359062.3	+	15	3098	c.3058G>A	c.(3058-3060)Gga>Aga	p.G1020R	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	1020	Catalytic (By similarity).				lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	TGATTCAGCAGGACTAATGCC	0.507000													18	42					0	0	0.006122	0	0
ANKS6	203286	broad.mit.edu	37	9	101536239	101536239	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr9:101536239C>A	ENST00000353234.4	-	9	1788	c.1741G>T	c.(1741-1743)Ggg>Tgg	p.G581W	ANKS6_ENST00000375018.1_Missense_Mutation_p.G581W|ANKS6_ENST00000375019.2_Missense_Mutation_p.G280W|ANKS6_ENST00000540940.1_Missense_Mutation_p.G386W			Q68DC2	ANKS6_HUMAN	ankyrin repeat and sterile alpha motif domain containing 6	581										endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	21		Acute lymphoblastic leukemia(62;0.0527)				TCTGCCTTCCCGTTGTGACGC	0.617000													21	21					3.28513e-13	4.82441e-13	0.003954	1	0
SLC6A10P	386757	broad.mit.edu	37	16	32890601	32890601	+	RNA	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr16:32890601C>A	ENST00000330048.5	-	0	3197					NR_003083.2																						CCTCACCCCACCACGGGTACA	0.592000													3	15					0.00909568	0.0094684	0.009096	1	0
POLA1	5422	broad.mit.edu	37	X	24751887	24751887	+	Missense_Mutation	SNP	A	A	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chrX:24751887A>G	ENST00000379068.3	+	17	1830	c.1787A>G	c.(1786-1788)aAg>aGg	p.K596R	POLA1_ENST00000379059.3_Missense_Mutation_p.K590R|POLA1_ENST00000493342.1_3'UTR			P09884	DPOLA_HUMAN	polymerase (DNA directed), alpha 1, catalytic subunit	590					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)	TCTAAACCAAAGGACTGTATT	0.328000													10	34					0	0	0.001368	0	0
DRD1	1812	broad.mit.edu	37	5	174869971	174869971	+	Silent	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr5:174869971G>T	ENST00000393752.2	-	2	1124	c.132C>A	c.(130-132)gtC>gtA	p.V44V		NM_000794.3	NP_000785.1	P21728	DRD1_HUMAN	dopamine receptor D1	44					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|adult walking behavior|cerebral cortex GABAergic interneuron migration|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|mating behavior|positive regulation of cAMP biosynthetic process|positive regulation of cell migration|positive regulation of potassium ion transport|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of synaptic transmission, glutamatergic|prepulse inhibition|response to drug|synapse assembly|visual learning	endoplasmic reticulum membrane|membrane fraction	protein binding	p.V44V(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(89;0.00895)|Renal(175;0.000159)|Lung NSC(126;0.00625)|all_lung(126;0.0104)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Carphenazine(DB01038)|Chlorprothixene(DB01239)|Clozapine(DB00363)|Cocaine(DB00907)|Dopamine(DB00988)|Fenoldopam(DB00800)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methylergonovine(DB00353)|Minaprine(DB00805)|Olanzapine(DB00334)|Pegademase bovine(DB00061)|Pergolide(DB01186)|Perphenazine(DB00850)|Prochlorperazine(DB00433)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Triflupromazine(DB00508)|Zuclopenthixol(DB01624)	CGGCAGCACAGACCAGCGTGT	0.577000													12	23					6.40141e-05	7.15772e-05	0.000978	1	0
TGM6	343641	broad.mit.edu	37	20	2375918	2375918	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr20:2375918C>G	ENST00000202625.2	+	3	321	c.260C>G	c.(259-261)gCa>gGa	p.A87G	TGM6_ENST00000477505.1_Intron|TGM6_ENST00000381423.1_Missense_Mutation_p.A87G	NM_198994.2	NP_945345.2	O95932	TGM3L_HUMAN	transglutaminase 6	87					cell death|peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52					L-Glutamine(DB00130)	GGCTGGACAGCAGCAAGGGAG	0.612000													4	16					0	0	0.009096	0	0
BEND2	139105	broad.mit.edu	37	X	18221737	18221737	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chrX:18221737C>A	ENST00000380033.4	-	5	923	c.791G>T	c.(790-792)cGa>cTa	p.R264L	BEND2_ENST00000380030.3_Missense_Mutation_p.R264L	NM_153346.4	NP_699177.2	Q8NDZ0	BEND2_HUMAN	BEN domain containing 2	264										NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1)	49						GGATTCTCTTCGTGACAGAAC	0.463000													22	61					0.000229342	0.000252346	0.001882	1	0
FAP	2191	broad.mit.edu	37	2	163039931	163039931	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr2:163039931C>A	ENST00000188790.4	-	21	2069	c.1862G>T	c.(1861-1863)tGg>tTg	p.W621L	FAP_ENST00000443424.1_Missense_Mutation_p.W596L	NM_004460.2	NP_004451.2	Q12884	SEPR_HUMAN	fibroblast activation protein, alpha	621					endothelial cell migration|negative regulation of extracellular matrix disassembly|proteolysis	cell junction|integral to membrane|invadopodium membrane|lamellipodium membrane	dipeptidyl-peptidase activity|metalloendopeptidase activity|protein homodimerization activity|serine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)	63						CACCCAGCCCCATATGGCTAT	0.294000													51	56					9.77497e-20	1.67109e-19	0.003610	1	0
GNAS	2778	broad.mit.edu	37	20	57429950	57429950	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr20:57429950C>T	ENST00000371100.4	+	1	2182	c.1630C>T	c.(1630-1632)Cgg>Tgg	p.R544W	GNAS_ENST00000371075.3_Intron|GNAS_ENST00000603534.1_Intron|GNAS_ENST00000371098.2_Intron|GNAS_ENST00000371102.4_Missense_Mutation_p.R544W|GNAS_ENST00000313949.7_Intron|GNAS_ENST00000306120.3_Silent_p.R480R|GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000371099.2_Missense_Mutation_p.R544W	NM_001077490.1|NM_080425.2	NP_001070958.1|NP_536350.2	P63092	GNAS2_HUMAN	GNAS complex locus	0					activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity			adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			GCCTACTCCGCGGCCTACTCG	0.716000			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)			6	6					0	0	0.001168	0	0
PRKDC	5591	broad.mit.edu	37	8	48772236	48772236	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr8:48772236C>T	ENST00000314191.2	-	47	6196	c.6140G>A	c.(6139-6141)gGa>gAa	p.G2047E	PRKDC_ENST00000338368.3_Missense_Mutation_p.G2047E|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	2048					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				GCTCTGAACTCCGGTTGAGAA	0.423000								Non-homologous end-joining					42	96					0	0	0.009718	0	0
PLCB4	5332	broad.mit.edu	37	20	9402085	9402085	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr20:9402085G>T	ENST00000378501.2	+	23	2275	c.2260G>T	c.(2260-2262)Gaa>Taa	p.E754*	PLCB4_ENST00000414679.2_Nonsense_Mutation_p.E766*|PLCB4_ENST00000378493.1_Nonsense_Mutation_p.E754*|PLCB4_ENST00000334005.3_Nonsense_Mutation_p.E754*|PLCB4_ENST00000378473.3_Nonsense_Mutation_p.E766*|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000278655.4_Nonsense_Mutation_p.E754*	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN	phospholipase C, beta 4	754	C2.				intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						AGTTTACAATGAAGAGTCATT	0.418000													17	33					1.01871e-10	1.39291e-10	0.008871	1	0
SLFN11	91607	broad.mit.edu	37	17	33690515	33690515	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr17:33690515G>T	ENST00000394566.1	-	4	584	c.312C>A	c.(310-312)taC>taA	p.Y104*	SLFN11_ENST00000308377.4_Nonsense_Mutation_p.Y104*	NM_001104587.1|NM_001104588.1|NM_001104589.1|NM_001104590.1	NP_001098057.1|NP_001098058.1|NP_001098059.1|NP_001098060.1	Q7Z7L1	SLN11_HUMAN	schlafen family member 11	104						nucleus	ATP binding			autonomic_ganglia(1)|breast(1)|kidney(3)|large_intestine(14)|lung(17)|ovary(1)|prostate(4)|skin(2)|stomach(5)|upper_aerodigestive_tract(2)	50		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		TAACAAAAATGTAAAAACACC	0.448000													33	44					8.16721e-17	1.31694e-16	0.002096	1	0
KIAA1462	57608	broad.mit.edu	37	10	30315157	30315157	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr10:30315157C>A	ENST00000375377.1	-	3	4021	c.3920G>T	c.(3919-3921)aGt>aTt	p.S1307I		NM_020848.2	NP_065899.1	Q9P266	K1462_HUMAN	KIAA1462	1307										breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						ACGGTCCCCACTGCCAGGAGA	0.622000													21	44					2.89027e-11	4.01257e-11	0.002299	1	0
OAZ1	4946	broad.mit.edu	37	19	2273022	2273022	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr19:2273022G>T	ENST00000583542.3	+	6	705	c.626G>T	c.(625-627)gGg>gTg	p.G209V	OAZ1_ENST00000592727.1_3'UTR|OAZ1_ENST00000322297.4_Missense_Mutation_p.G200V|OAZ1_ENST00000602676.1_Missense_Mutation_p.G201V|OAZ1_ENST00000582888.3_Missense_Mutation_p.G199V			P54368	OAZ1_HUMAN	ornithine decarboxylase antizyme 1	201					polyamine biosynthetic process|regulation of cellular amino acid metabolic process	cytosol	ornithine decarboxylase inhibitor activity			endometrium(1)|lung(2)	3		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	L-Ornithine(DB00129)	GTGAGACCGGGGCATCCCCTT	0.637000													4	6					0.00024832	0.000271987	0.009096	1	0
ZNF831	128611	broad.mit.edu	37	20	57768774	57768774	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr20:57768774G>C	ENST00000371030.2	+	1	2700	c.2700G>C	c.(2698-2700)agG>agC	p.R900S		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	900						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					TGGGGCCAAGGGACAAGGCTA	0.672000													20	35					0	0	0.010504	0	0
SH3RF3	344558	broad.mit.edu	37	2	110015186	110015186	+	Silent	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr2:110015186G>T	ENST00000309415.6	+	4	1086	c.1086G>T	c.(1084-1086)gcG>gcT	p.A362A		NM_001099289.1	NP_001092759.1	Q8TEJ3	SH3R3_HUMAN	SH3 domain containing ring finger 3	362							zinc ion binding			endometrium(2)|kidney(1)|large_intestine(6)|liver(2)|lung(5)|ovary(2)	18						GCTCAGGGGCGGTCAGTGCCT	0.632000													3	21					0.00024832	0.000271987	0.009096	1	0
OR9A4	130075	broad.mit.edu	37	7	141618956	141618956	+	Missense_Mutation	SNP	T	T	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr7:141618956T>G	ENST00000548136.1	+	1	340	c.281T>G	c.(280-282)tTg>tGg	p.L94W	MGAM_ENST00000497554.1_Intron	NM_001001656.1	NP_001001656.1	Q8NGU2	OR9A4_HUMAN	olfactory receptor, family 9, subfamily A, member 4	94					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|large_intestine(9)|lung(7)|prostate(1)|skin(2)	22	Melanoma(164;0.0171)					ACAATATATTTGTCTGCCTGT	0.527000													11	87					0	0	0.001368	0	0
NXF5	55998	broad.mit.edu	37	X	101092590	101092590	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chrX:101092590G>T	ENST00000537026.1	-	15	1315	c.956C>A	c.(955-957)cCa>cAa	p.P319Q	NXF5_ENST00000473265.2_Missense_Mutation_p.P319Q|NXF5_ENST00000361708.2_Missense_Mutation_p.P319Q	NM_032946.2	NP_116564.2	Q9H1B4	NXF5_HUMAN	nuclear RNA export factor 5	319	NTF2; truncated.				mRNA export from nucleus|multicellular organismal development	actin cytoskeleton|cytoplasm|nucleus	nucleocytoplasmic transporter activity|nucleotide binding|protein binding|RNA binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|skin(1)	30						CACGTTTCGTGGACATTTTGT	0.532000													32	70					1.06801e-11	1.50729e-11	0.009535	1	0
ARID1A	8289	broad.mit.edu	37	1	27087527	27087527	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr1:27087527G>T	ENST00000324856.7	+	5	2472	c.2101G>T	c.(2101-2103)Ggc>Tgc	p.G701C	ARID1A_ENST00000457599.2_Missense_Mutation_p.G701C|ARID1A_ENST00000374152.2_Missense_Mutation_p.G318C	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	701					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GTCCCCTGTTGGCTCTCCCGC	0.607000			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								23	33					1.64293e-13	2.45002e-13	0.003330	1	0
SH2B1	25970	broad.mit.edu	37	16	28880417	28880417	+	Splice_Site	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr16:28880417G>T	ENST00000337120.5	+	3	4423	c.1133_splice	c.e3+1	p.G378_splice	SH2B1_ENST00000545570.1_Splice_Site_p.G68_splice|SH2B1_ENST00000538342.1_Splice_Site_p.G42_splice|SH2B1_ENST00000563674.1_Intron|SH2B1_ENST00000395532.4_Splice_Site_p.G378_splice|SH2B1_ENST00000359285.5_Splice_Site_p.G378_splice|SH2B1_ENST00000322610.8_Splice_Site_p.G378_splice	NM_001145812.1|NM_015503.2	NP_001139284.1|NP_056318.2	Q9NRF2	SH2B1_HUMAN	SH2B adaptor protein 1	378	Interaction with JAK2 (low-affinity binding; independent of JAK2 phosphorylation) (By similarity).				blood coagulation|intracellular signal transduction	cytosol|membrane|nucleus	signal transducer activity	p.G378*(2)		endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						CCTGAGCCCAGGGTGAGAAGC	0.562000													32	31					1.39806e-14	2.15131e-14	0.008361	1	0
DZIP3	9666	broad.mit.edu	37	3	108392970	108392970	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr3:108392970G>T	ENST00000361582.3	+	24	2865	c.2635G>T	c.(2635-2637)Gag>Tag	p.E879*	DZIP3_ENST00000463306.1_Nonsense_Mutation_p.E879*	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN	DAZ interacting zinc finger protein 3	879					protein polyubiquitination	cytoplasm	polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						GCTTCATCTAGAGCAGACTGA	0.408000													72	59					5.42381e-49	1.05418e-48	0.003610	1	0
SF3A1	10291	broad.mit.edu	37	22	30738840	30738840	+	Nonsense_Mutation	SNP	G	G	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr22:30738840G>C	ENST00000439242.1	-	5	616	c.485C>G	c.(484-486)tCa>tGa	p.S162*	SF3A1_ENST00000215793.7_Nonsense_Mutation_p.S227*	NM_001005409.1	NP_001005409.1	Q15459	SF3A1_HUMAN	splicing factor 3a, subunit 1, 120kDa	227					nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|nucleoplasm|U2-type spliceosomal complex	protein binding|RNA binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|urinary_tract(1)	29						CTTGAGCTTTGAAAATAAACC	0.423000													9	62					0	0	0.000978	0	0
ARHGAP6	395	broad.mit.edu	37	X	11207050	11207050	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chrX:11207050C>A	ENST00000337414.4	-	4	1747	c.875G>T	c.(874-876)aGg>aTg	p.R292M	ARHGAP6_ENST00000534860.1_Missense_Mutation_p.R117M|ARHGAP6_ENST00000380718.1_Missense_Mutation_p.R292M|ARHGAP6_ENST00000413512.3_Missense_Mutation_p.R101M|ARHGAP6_ENST00000380732.3_Missense_Mutation_p.R324M|ARHGAP6_ENST00000380736.1_Missense_Mutation_p.R89M|ARHGAP6_ENST00000303025.6_Missense_Mutation_p.R89M	NM_013427.2	NP_038286.2	O43182	RHG06_HUMAN	Rho GTPase activating protein 6	292					actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly|Rho protein signal transduction	actin filament|cytosol	phospholipase activator activity|phospholipase binding|Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						TTTATAGGCCCTGTCATTCGC	0.443000													18	39					6.49762e-13	9.43686e-13	0.006122	1	0
GPR101	83550	broad.mit.edu	37	X	136112472	136112472	+	Nonsense_Mutation	SNP	A	A	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chrX:136112472A>T	ENST00000298110.1	-	1	1361	c.1362T>A	c.(1360-1362)taT>taA	p.Y454*		NM_054021.1	NP_473362.1	Q96P66	GP101_HUMAN	G protein-coupled receptor 101	454						integral to membrane|plasma membrane	G-protein coupled receptor activity			autonomic_ganglia(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(18)|ovary(3)|skin(1)|urinary_tract(1)	42	Acute lymphoblastic leukemia(192;0.000127)					GCATGTAGCCATAGACATAGG	0.512000													31	52					0	0	0.002836	0	0
DHX37	57647	broad.mit.edu	37	12	125473463	125473463	+	Splice_Site	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr12:125473463C>A	ENST00000308736.2	-	1	204	c.106_splice	c.e1+1	p.D36_splice		NM_032656.3	NP_116045.2	Q8IY37	DHX37_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 37	36							ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3)	65	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)		GATGTCTTACCCTCCAGTTCC	0.701000													9	23					1.76689e-08	2.24821e-08	0.006214	1	0
TOX2	84969	broad.mit.edu	37	20	42679966	42679966	+	Silent	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr20:42679966G>T	ENST00000358131.5	+	4	667	c.459G>T	c.(457-459)tcG>tcT	p.S153S	TOX2_ENST00000423191.1_Silent_p.S102S|TOX2_ENST00000341197.3_Silent_p.S144S|TOX2_ENST00000372999.1_Silent_p.S102S|TOX2_ENST00000435864.2_Silent_p.S22S	NM_001098798.1	NP_001092268.1	Q96NM4	TOX2_HUMAN	TOX high mobility group box family member 2	153					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.S153S(1)|p.S102S(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)			TGGTCCACTCGGAAGTGGCTG	0.612000													44	14					4.67007e-22	8.25672e-22	0.008740	1	0
EYS	346007	broad.mit.edu	37	6	66063351	66063351	+	Splice_Site	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr6:66063351C>A	ENST00000503581.1	-	9	1996	c.1459_splice	c.e9+1	p.G487_splice	EYS_ENST00000370621.3_Splice_Site_p.G487_splice|EYS_ENST00000393380.2_Splice_Site_p.G487_splice|EYS_ENST00000342421.5_Splice_Site_p.G487_splice|EYS_ENST00000370616.2_Splice_Site_p.G487_splice|EYS_ENST00000370618.3_Splice_Site_p.G487_splice	NM_001142800.1	NP_001136272.1	Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	487					response to stimulus|visual perception	extracellular region	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						AATTTGTTACCTGCAAATCCC	0.333000													10	51					2.17888e-05	2.47646e-05	0.006214	1	0
TOPBP1	11073	broad.mit.edu	37	3	133368263	133368263	+	Silent	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr3:133368263G>A	ENST00000260810.5	-	10	1599	c.1468C>T	c.(1468-1470)Ctg>Ttg	p.L490L	TOPBP1_ENST00000511439.1_5'UTR	NM_007027.3	NP_008958.2	Q92547	TOPB1_HUMAN	topoisomerase (DNA) II binding protein 1	490					DNA repair|response to ionizing radiation	microtubule organizing center|PML body|spindle pole	DNA binding|protein C-terminus binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	40						TGAGAGAGCAGATCTTCATCA	0.353000								Other conserved DNA damage response genes					13	46					0	0	0.002450	0	0
FAM217B	63939	broad.mit.edu	37	20	58519167	58519167	+	Missense_Mutation	SNP	A	A	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr20:58519167A>G	ENST00000358293.3	+	5	584	c.169A>G	c.(169-171)Aga>Gga	p.R57G	FAM217B_ENST00000360816.3_Missense_Mutation_p.R57G|FAM217B_ENST00000469084.1_Intron	NM_001190826.1	NP_001177755.1	Q9NTX9	CT177_HUMAN	family with sequence similarity 217, member B	57																	CCCGGAAGCAAGACGCAAAAG	0.468000													27	62					0	0	0.007291	0	0
GRIA3	2892	broad.mit.edu	37	X	122387172	122387172	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chrX:122387172G>T	ENST00000264357.5	+	3	579	c.287G>T	c.(286-288)aGa>aTa	p.R96I	GRIA3_ENST00000371251.1_Missense_Mutation_p.R96I|GRIA3_ENST00000479118.1_3'UTR|GRIA3_ENST00000542149.1_Missense_Mutation_p.R96I|GRIA3_ENST00000541091.1_Missense_Mutation_p.R80I|GRIA3_ENST00000371256.5_Missense_Mutation_p.R96I	NM_000828.4	NP_000819.3	P42263	GRIA3_HUMAN	glutamate receptor, ionotropic, AMPA 3	96					glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					L-Glutamic Acid(DB00142)	CAGTTCTCGAGAGGGGTGTAT	0.458000													24	76					2.79863e-10	3.77672e-10	0.004656	1	0
C18orf25	147339	broad.mit.edu	37	18	43796201	43796201	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr18:43796201C>G	ENST00000282059.6	+	2	729	c.355C>G	c.(355-357)Cag>Gag	p.Q119E	C18orf25_ENST00000321319.6_Missense_Mutation_p.Q119E	NM_145055.3	NP_659492.1	Q96B23	CR025_HUMAN	chromosome 18 open reading frame 25	119										central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)	11						TGAACCCTCTCAGGCAGAAAC	0.522000													35	59					0	0	0.004878	0	0
UQCRC1	7384	broad.mit.edu	37	3	48637544	48637544	+	Silent	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr3:48637544C>T	ENST00000203407.5	-	11	1670	c.1254G>A	c.(1252-1254)ctG>ctA	p.L418L		NM_003365.2	NP_003356.2	P31930	QCR1_HUMAN	ubiquinol-cytochrome c reductase core protein I	418					aerobic respiration|proteolysis		metalloendopeptidase activity|ubiquinol-cytochrome-c reductase activity|zinc ion binding			breast(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)	Atovaquone(DB01117)	GGCCATAGGTCAGGAGGCTGC	0.602000													7	33					0	0	0.006214	0	0
AGMO	392636	broad.mit.edu	37	7	15470662	15470662	+	Nonsense_Mutation	SNP	T	T	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr7:15470662T>A	ENST00000342526.3	-	4	650	c.481A>T	c.(481-483)Aga>Tga	p.R161*		NM_001004320.1	NP_001004320.1	Q6ZNB7	ALKMO_HUMAN	alkylglycerol monooxygenase	161					ether lipid metabolic process|fatty acid biosynthetic process|membrane lipid metabolic process	endoplasmic reticulum membrane|integral to membrane	glyceryl-ether monooxygenase activity|iron ion binding			breast(1)|kidney(1)|large_intestine(6)|liver(1)|lung(30)|prostate(1)|skin(2)	42						ACAGACTGTCTCAGTGCTGTG	0.358000													10	59					0	0	0.008291	0	0
GRSF1	2926	broad.mit.edu	37	4	71698153	71698153	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr4:71698153T>A	ENST00000254799.6	-	4	802	c.685A>T	c.(685-687)Aat>Tat	p.N229Y	GRSF1_ENST00000545193.1_Missense_Mutation_p.N111Y|GRSF1_ENST00000502323.1_Missense_Mutation_p.N67Y|GRSF1_ENST00000439371.1_Missense_Mutation_p.N67Y|GRSF1_ENST00000508091.1_Intron	NM_002092.3	NP_002083.3	Q12849	GRSF1_HUMAN	G-rich RNA sequence binding factor 1	229	RRM 1.				mRNA polyadenylation		mRNA binding|nucleotide binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|upper_aerodigestive_tract(2)	17		all_hematologic(202;0.21)	Lung(101;0.235)			ACATCTTCATTGTTTATCTCA	0.368000													3	24					0	0	0.004672	0	0
TECRL	253017	broad.mit.edu	37	4	65275040	65275040	+	Silent	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr4:65275040C>T	ENST00000381210.3	-	1	140	c.30G>A	c.(28-30)tcG>tcA	p.S10S	TECRL_ENST00000507440.1_Silent_p.S10S	NM_001010874.4	NP_001010874.2	Q5HYJ1	TECRL_HUMAN	trans-2,3-enoyl-CoA reductase-like	10					lipid metabolic process	cytoplasm|integral to membrane	oxidoreductase activity, acting on the CH-CH group of donors			endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1)	47						TCTTGCGTTCCGAAGCGAGGG	0.413000													27	61					0	0	0.009535	0	0
SORCS1	114815	broad.mit.edu	37	10	108427524	108427524	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr10:108427524G>T	ENST00000263054.6	-	17	2233	c.2226C>A	c.(2224-2226)tgC>tgA	p.C742*	SORCS1_ENST00000369698.1_Nonsense_Mutation_p.C277*|SORCS1_ENST00000344440.6_Nonsense_Mutation_p.C742*	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	742						integral to membrane	neuropeptide receptor activity|protein binding	p.C742*(1)		breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		ATGCCGGCAGGCACTGGCCAT	0.458000													8	18					0.00621372	0.00651046	0.006214	1	0
GLUD2	2747	broad.mit.edu	37	X	120181692	120181692	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chrX:120181692C>A	ENST00000328078.1	+	1	231	c.154C>A	c.(154-156)Cac>Aac	p.H52N		NM_012084.3	NP_036216.2	P49448	DHE4_HUMAN	glutamate dehydrogenase 2	52					glutamate biosynthetic process|glutamate catabolic process	mitochondrial matrix	ADP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|leucine binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|urinary_tract(1)	38					L-Glutamic Acid(DB00142)|NADH(DB00157)	CGCCCGGCGCCACTACAGCGA	0.716000													19	26					3.62473e-10	4.87789e-10	0.001882	1	0
LAMA1	284217	broad.mit.edu	37	18	7017304	7017304	+	Silent	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr18:7017304C>A	ENST00000389658.3	-	20	2874	c.2781G>T	c.(2779-2781)gtG>gtT	p.V927V		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	927	Laminin EGF-like 9.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GCTGTCCAGTCACGTTTGGTT	0.498000													7	45					0.00448238	0.0047135	0.004482	1	0
IRGC	56269	broad.mit.edu	37	19	44223494	44223494	+	Missense_Mutation	SNP	A	A	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr19:44223494A>G	ENST00000244314.5	+	2	983	c.784A>G	c.(784-786)Atg>Gtg	p.M262V		NM_019612.3	NP_062558.1	Q6NXR0	IIGP5_HUMAN	immunity-related GTPase family, cinema	262						membrane	GTP binding|hydrolase activity, acting on acid anhydrides			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(2)	25		Prostate(69;0.0435)				GAAGAAGGCCATGCTTCAAGA	0.662000													10	18					0	0	0.006214	0	0
GRM3	2913	broad.mit.edu	37	7	86394822	86394822	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr7:86394822G>T	ENST00000361669.2	+	2	1460	c.361G>T	c.(361-363)Gat>Tat	p.D121Y	GRM3_ENST00000536043.1_Intron|GRM3_ENST00000394720.2_Missense_Mutation_p.D119Y|GRM3_ENST00000439827.1_Missense_Mutation_p.D121Y|GRM3_ENST00000546348.1_Intron	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	121					synaptic transmission	integral to plasma membrane				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	GACAAAAGTGGATGAAGCTGA	0.438000													76	211					1.63007e-36	3.13043e-36	0.003610	1	0
PRSS22	64063	broad.mit.edu	37	16	2906129	2906129	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr16:2906129G>C	ENST00000161006.3	-	3	300	c.235C>G	c.(235-237)Ctg>Gtg	p.L79V	PRSS22_ENST00000574768.1_Intron|PRSS22_ENST00000571228.1_Intron	NM_022119.3	NP_071402.1	Q9GZN4	BSSP4_HUMAN	protease, serine, 22	79	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|skin(2)	10						CTGGTGAGCAGAGAACCTGCG	0.612000													8	28					0	0	0.006214	0	0
NT5E	4907	broad.mit.edu	37	6	86203677	86203677	+	Missense_Mutation	SNP	A	A	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr6:86203677A>C	ENST00000257770.3	+	9	1729	c.1680A>C	c.(1678-1680)ttA>ttC	p.L560F	NT5E_ENST00000369651.3_Missense_Mutation_p.L510F	NM_002526.3	NP_002517.1	P21589	5NTD_HUMAN	5'-nucleotidase, ecto (CD73)	560					DNA metabolic process|purine base metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	anchored to membrane|cytoplasm|membrane fraction|plasma membrane	5'-nucleotidase activity|nucleotide binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(76;0.000215)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0427)		BRCA - Breast invasive adenocarcinoma(108;0.0417)	Pentoxifylline(DB00806)	GCTTTTCTTTAATATTTCTTT	0.353000													12	25					0	0	0.001855	0	0
ATP10D	57205	broad.mit.edu	37	4	47517562	47517562	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr4:47517562G>T	ENST00000273859.3	+	3	629	c.360G>T	c.(358-360)aaG>aaT	p.K120N	ATP10D_ENST00000504445.1_Missense_Mutation_p.K120N	NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	120					ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						CCTTCCAAAAGGAAATCACCA	0.413000													23	64					5.35356e-11	7.38985e-11	0.002780	1	0
DUSP27	92235	broad.mit.edu	37	1	167097504	167097504	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr1:167097504C>A	ENST00000361200.2	+	6	3302	c.3136C>A	c.(3136-3138)Cca>Aca	p.P1046T	DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000271385.5_Missense_Mutation_p.P1046T|DUSP27_ENST00000443333.1_Missense_Mutation_p.P1046T			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	1046					protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						CCGCCGGACCCCAGAGTCCTC	0.577000													13	26					1.5842e-08	2.03002e-08	0.001855	1	0
SPAG5	10615	broad.mit.edu	37	17	26907094	26907094	+	Silent	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr17:26907094G>T	ENST00000321765.5	-	16	3062	c.2730C>A	c.(2728-2730)acC>acA	p.T910T		NM_006461.3	NP_006452.3	Q96R06	SPAG5_HUMAN	sperm associated antigen 5	910					cell division|mitosis|phosphatidylinositol-mediated signaling|spindle organization	condensed chromosome kinetochore|cytoplasm|spindle pole	protein binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43	Lung NSC(42;0.00431)					GGTGTTCCTGGGTGGGAGGAC	0.517000													20	35					4.47668e-21	7.83825e-21	0.003954	1	0
POLR1B	84172	broad.mit.edu	37	2	113309351	113309351	+	Splice_Site	SNP	G	G	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr2:113309351G>C	ENST00000263331.5	+	6	1342		c.e6-1		POLR1B_ENST00000541869.1_Splice_Site|POLR1B_ENST00000537335.1_Splice_Site|POLR1B_ENST00000409894.3_Splice_Site|POLR1B_ENST00000417433.2_Splice_Site	NM_019014.4	NP_061887.2	Q9H9Y6	RPA2_HUMAN	polymerase (RNA) I polypeptide B, 128kDa						termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding			breast(3)|endometrium(9)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42						TTCTATTCTAGGCACTTGTCA	0.308000													26	36					0	0	0.004656	0	0
ZNF521	25925	broad.mit.edu	37	18	22807555	22807555	+	Translation_Start_Site	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr18:22807555C>A	ENST00000584787.1	-	0	430				ZNF521_ENST00000538137.2_Missense_Mutation_p.E109D|ZNF521_ENST00000361524.3_Missense_Mutation_p.E109D			Q96K83	ZN521_HUMAN	zinc finger protein 521						cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					CACCTTCTTCCTCTCCAAAAT	0.517000			T	PAX5	ALL								48	39					1.81118e-26	3.3623e-26	0.003610	1	0
HECTD4	283450	broad.mit.edu	37	12	112702999	112702999	+	Missense_Mutation	SNP	T	T	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr12:112702999T>G	ENST00000550722.1	-	16	2562	c.2167A>C	c.(2167-2169)Aag>Cag	p.K723Q	HECTD4_ENST00000377560.5_Missense_Mutation_p.K685Q|HECTD4_ENST00000430131.2_Missense_Mutation_p.K435Q	NM_001109662.3	NP_001103132.3			HECT domain containing E3 ubiquitin protein ligase 4																		GAAAGGAGCTTTTGAAAATCA	0.323000													24	41					0	0	0.004656	0	0
JMJD1C	221037	broad.mit.edu	37	10	64967354	64967354	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr10:64967354C>A	ENST00000399262.2	-	10	4293	c.4075G>T	c.(4075-4077)Gtg>Ttg	p.V1359L	JMJD1C_ENST00000399251.1_Missense_Mutation_p.V1140L|JMJD1C_ENST00000402544.1_Missense_Mutation_p.V1140L|JMJD1C_ENST00000542921.1_Missense_Mutation_p.V1177L	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	1359					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					TCTGAATTCACATTTGGCAAA	0.418000													24	82					1.10513e-12	1.60023e-12	0.002299	1	0
SLITRK1	114798	broad.mit.edu	37	13	84455420	84455420	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr13:84455420G>C	ENST00000377084.2	-	1	1108	c.223C>G	c.(223-225)Cct>Gct	p.P75A		NM_052910.1	NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	75						integral to membrane				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		AACTCATTAGGGAAAAGTCGA	0.463000													32	27					0	0	0.002096	0	0
CDKL5	6792	broad.mit.edu	37	X	18646665	18646665	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chrX:18646665C>A	ENST00000379989.3	+	19	2956	c.2671C>A	c.(2671-2673)Cag>Aag	p.Q891K	CDKL5_ENST00000379996.3_Missense_Mutation_p.Q891K	NM_001037343.1	NP_001032420.1	O76039	CDKL5_HUMAN	cyclin-dependent kinase-like 5	891					neuron migration|positive regulation of axon extension|positive regulation of dendrite morphogenesis|positive regulation of Rac GTPase activity|protein autophosphorylation	dendrite cytoplasm|dendritic growth cone|nucleus	ATP binding|cyclin-dependent protein kinase activity|Rac GTPase binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1)	44	Hepatocellular(33;0.183)					CAACATCCGGCAGGAACCCGC	0.602000													30	65					7.01153e-11	9.64169e-11	0.007291	1	0
OR5M11	219487	broad.mit.edu	37	11	56310441	56310441	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr11:56310441G>T	ENST00000528616.2	-	1	316	c.293C>A	c.(292-294)aCa>aAa	p.T98K		NM_001005245.1	NP_001005245.1	Q96RB7	OR5MB_HUMAN	olfactory receptor, family 5, subfamily M, member 11	98					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)	18						GTAGCACTGTGTAAAGCAACC	0.448000													9	21					0.000442599	0.000481144	0.006214	1	0
KIAA1467	57613	broad.mit.edu	37	12	13208570	13208570	+	Silent	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr12:13208570G>A	ENST00000197268.8	+	2	243	c.123G>A	c.(121-123)ctG>ctA	p.L41L		NM_020853.1	NP_065904.1	A2RU67	K1467_HUMAN	KIAA1467	41						integral to membrane				NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(4)	36		Prostate(47;0.184)		BRCA - Breast invasive adenocarcinoma(232;0.157)		TGCTTAACCTGCAGAAGAATG	0.507000													20	50					0	0	0.008871	0	0
C10orf76	79591	broad.mit.edu	37	10	103773745	103773745	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr10:103773745C>G	ENST00000370033.4	-	9	825	c.706G>C	c.(706-708)Gat>Cat	p.D236H		NM_024541.2	NP_078817.2	Q5T2E6	CJ076_HUMAN	chromosome 10 open reading frame 76	236						integral to membrane				autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|upper_aerodigestive_tract(2)	24		Colorectal(252;0.123)		Epithelial(162;2.41e-08)|all cancers(201;6.41e-07)		GCCTCATCATCCACGATAGAC	0.378000													31	47					0	0	0.002445	0	0
HOXA13	3209	broad.mit.edu	37	7	27238774	27238774	+	Splice_Site	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr7:27238774C>A	ENST00000222753.4	-	1	951		c.e1+1		HOTTIP_ENST00000421733.1_RNA	NM_000522.4	NP_000513.2	P31271	HXA13_HUMAN	homeobox A13						skeletal system development	nucleus	sequence-specific DNA binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	6						TCGTCATTTACCGGGCAGAGT	0.632000			T	NUP98	AML								19	11					8.34094e-07	9.9323e-07	0.008871	1	0
CCDC120	90060	broad.mit.edu	37	X	48923039	48923039	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chrX:48923039G>T	ENST00000376396.3	+	8	956	c.737G>T	c.(736-738)tGg>tTg	p.W246L	CCDC120_ENST00000536628.2_Missense_Mutation_p.W234L|CCDC120_ENST00000422185.2_Missense_Mutation_p.W246L|CCDC120_ENST00000603986.1_Missense_Mutation_p.W281L|CCDC120_ENST00000597275.1_Missense_Mutation_p.W246L|CCDC120_ENST00000496529.2_Missense_Mutation_p.W246L	NM_001271835.1|NM_001271836.1|NM_033626.2	NP_001258764.1|NP_001258765.1|NP_296375.1	Q96HB5	CC120_HUMAN	coiled-coil domain containing 120	246							protein binding			breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	14						CCCAAGGCTTGGGACCAGCTG	0.617000													10	26					2.17888e-05	2.47646e-05	0.006214	1	0
PTBP2	58155	broad.mit.edu	37	1	97243152	97243152	+	Silent	SNP	A	A	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr1:97243152A>G	ENST00000236228.6	+	6	526	c.444A>G	c.(442-444)gcA>gcG	p.A148A	PTBP2_ENST00000426398.2_Silent_p.A148A|PTBP2_ENST00000394184.3_Silent_p.A159A|PTBP2_ENST00000482253.1_3'UTR|PTBP2_ENST00000370198.1_Silent_p.A148A|PTBP2_ENST00000370197.1_Silent_p.A148A|PTBP2_ENST00000541987.1_Silent_p.A117A	NM_021190.2	NP_067013.1	Q9UKA9	PTBP2_HUMAN	polypyrimidine tract binding protein 2	148							nucleotide binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|skin(1)	26		all_epithelial(167;2.95e-05)|all_lung(203;0.000396)|Lung NSC(277;0.00171)		all cancers(265;0.0582)|Epithelial(280;0.0716)|Colorectal(170;0.0879)|KIRC - Kidney renal clear cell carcinoma(1967;0.202)		GTGCTCAGGCAGTTCTTCAAG	0.438000													16	21					0	0	0.006122	0	0
ZFHX4	79776	broad.mit.edu	37	8	77768454	77768454	+	Silent	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr8:77768454C>A	ENST00000521891.2	+	10	9745	c.9297C>A	c.(9295-9297)ccC>ccA	p.P3099P	ZFHX4_ENST00000518282.1_Silent_p.P3073P|ZFHX4_ENST00000455469.2_Silent_p.P3054P|ZFHX4_ENST00000050961.6_Silent_p.P3054P	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	3054	Pro-rich.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CAGCCTACCCCGGACTCCCCG	0.542000										HNSCC(33;0.089)			20	41					3.51602e-12	5.05079e-12	0.008871	1	0
LTBP1	4052	broad.mit.edu	37	2	33518259	33518259	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr2:33518259G>T	ENST00000404816.2	+	20	3498	c.3145G>T	c.(3145-3147)Gca>Tca	p.A1049S	LTBP1_ENST00000498013.1_3'UTR|LTBP1_ENST00000407925.1_Missense_Mutation_p.A723S|LTBP1_ENST00000390003.4_Missense_Mutation_p.A724S|LTBP1_ENST00000272273.5_5'UTR|LTBP1_ENST00000354476.3_Missense_Mutation_p.A1050S|LTBP1_ENST00000404525.1_Missense_Mutation_p.A670S|LTBP1_ENST00000418533.2_Missense_Mutation_p.A723S|LTBP1_ENST00000402934.1_Missense_Mutation_p.A670S			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	1049	EGF-like 8; calcium-binding (Potential).				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				AAACGTCTGCGCAAATGGTGA	0.423000													14	21					0.00244969	0.00260437	0.002450	1	0
DUSP5	1847	broad.mit.edu	37	10	112269834	112269834	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr10:112269834C>T	ENST00000369583.3	+	4	1089	c.805C>T	c.(805-807)Cgt>Tgt	p.R269C	DUSP5_ENST00000468749.1_3'UTR	NM_004419.3	NP_004410.3	Q16690	DUS5_HUMAN	dual specificity phosphatase 5	269	Tyrosine-protein phosphatase.				endoderm formation|inactivation of MAPK activity	nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			kidney(2)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	13		Breast(234;0.0848)		Epithelial(162;0.000276)|all cancers(201;0.00465)|BRCA - Breast invasive adenocarcinoma(275;0.12)		TGGGATCTCCCGTTCACCCAC	0.537000													9	38					0	0	0.004482	0	0
WBP11P1	441818	broad.mit.edu	37	18	30093118	30093118	+	RNA	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr18:30093118G>T	ENST00000567636.1	+	0	1493					NR_003558.1																						CCTTTACCCTGACTTTTACCT	0.607000													3	10					6.4e-05	7.15772e-05	0.004672	1	0
RP1L1	94137	broad.mit.edu	37	8	10464791	10464791	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr8:10464791G>T	ENST00000382483.3	-	4	7040	c.6817C>A	c.(6817-6819)Cct>Act	p.P2273T		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	2273					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		CTGTCCTCAGGGACTGGGCTG	0.587000													53	59					4.96213e-28	9.25924e-28	0.003610	1	0
MEOX2	4223	broad.mit.edu	37	7	15725581	15725581	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr7:15725581G>T	ENST00000262041.5	-	1	856	c.447C>A	c.(445-447)taC>taA	p.Y149*		NM_005924.4	NP_005915.2	P50222	MEOX2_HUMAN	mesenchyme homeobox 2	149					blood circulation|multicellular organismal development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24				UCEC - Uterine corpus endometrioid carcinoma (126;0.0822)		CCTGGCGGCCGTAGTCCCCCG	0.706000													51	38					4.86159e-25	8.92216e-25	0.003610	1	0
XIRP2	129446	broad.mit.edu	37	2	168105807	168105807	+	Missense_Mutation	SNP	A	A	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr2:168105807A>C	ENST00000409195.1	+	9	7994	c.7905A>C	c.(7903-7905)gaA>gaC	p.E2635D	XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.E2635D|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.E2413D	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2460					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						CATCGCCAGAAACAGTCGCTG	0.443000													22	65					0	0	0.002780	0	0
HNF4A	3172	broad.mit.edu	37	20	43058302	43058302	+	Silent	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr20:43058302C>A	ENST00000316099.3	+	10	1511	c.1422C>A	c.(1420-1422)atC>atA	p.I474I	HNF4A_ENST00000457232.1_Silent_p.I442I|HNF4A_ENST00000415691.1_Silent_p.I464I	NM_000457.4|NM_001258355.1	NP_000448.3|NP_001245284.1	P41235	HNF4A_HUMAN	hepatocyte nuclear factor 4, alpha	474					blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process	cytoplasm	activating transcription factor binding|protein homodimerization activity|receptor binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	34		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			AGGAAGTTATCTAGCAAGCCG	0.627000													25	109					2.41591e-17	3.93061e-17	0.004656	1	0
SLC6A1	6529	broad.mit.edu	37	3	11070434	11070434	+	Silent	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr3:11070434G>A	ENST00000287766.4	+	11	1513	c.1092G>A	c.(1090-1092)gcG>gcA	p.A364A	SLC6A1_ENST00000536032.1_Silent_p.A186A	NM_003042.3	NP_003033.3	P30531	SC6A1_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 1	364					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	26		Ovarian(110;0.0392)		OV - Ovarian serous cystadenocarcinoma(96;0.00099)	Cocaine(DB00907)|Tiagabine(DB00906)	CCGGGCTGGCGTTCCTGGCAT	0.532000													9	18					0	0	0.006214	0	0
TRHDE	29953	broad.mit.edu	37	12	72771835	72771835	+	Missense_Mutation	SNP	A	A	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr12:72771835A>G	ENST00000261180.4	+	3	1210	c.1114A>G	c.(1114-1116)Ata>Gta	p.I372V		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	372					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						TGCTCTCCATATAACAAAGAG	0.328000													29	46					0	0	0.009535	0	0
SERPINA9	327657	broad.mit.edu	37	14	94931119	94931119	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr14:94931119C>T	ENST00000337425.5	-	4	1103	c.1029G>A	c.(1027-1029)atG>atA	p.M343I	SERPINA9_ENST00000448305.2_Missense_Mutation_p.M245I|SERPINA9_ENST00000546329.1_Missense_Mutation_p.M307I|SERPINA9_ENST00000380365.3_Missense_Mutation_p.M325I|SERPINA9_ENST00000424550.2_Missense_Mutation_p.M194I|SERPINA9_ENST00000298845.7_Missense_Mutation_p.M243I	NM_175739.3	NP_783866.2	Q86WD7	SPA9_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9	325					regulation of proteolysis	cytoplasm|extracellular region|membrane	serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(17)	21		all_cancers(154;0.0691)|all_epithelial(191;0.233)		Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24)		TTTGGATGCCCATCTTCGGGA	0.413000													11	36					0	0	0.001368	0	0
LTBP2	4053	broad.mit.edu	37	14	75019645	75019645	+	Missense_Mutation	SNP	A	A	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr14:75019645A>C	ENST00000261978.4	-	5	1528	c.1142T>G	c.(1141-1143)cTg>cGg	p.L381R	CTD-2207P18.1_ENST00000554552.1_lincRNA|LTBP2_ENST00000557425.1_Intron|LTBP2_ENST00000556690.1_Missense_Mutation_p.L381R	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	381					protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		CTGGCTGTACAGGGTGGTGGT	0.592000													8	15					0	0	0.003080	0	0
LAS1L	81887	broad.mit.edu	37	X	64738059	64738059	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chrX:64738059C>A	ENST00000374811.3	-	12	1775	c.1735G>T	c.(1735-1737)Gta>Tta	p.V579L	LAS1L_ENST00000374807.5_Missense_Mutation_p.V562L|LAS1L_ENST00000374804.5_Missense_Mutation_p.V520L|LAS1L_ENST00000312391.8_3'UTR	NM_031206.4	NP_112483.1	Q9Y4W2	LAS1L_HUMAN	LAS1-like (S. cerevisiae)	579						MLL1 complex|nucleolus	protein binding			breast(4)|endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	33						tcctcctcTACCTGGTCTGGC	0.507000													26	49					3.73148e-12	5.34439e-12	0.007291	1	0
TTN	7273	broad.mit.edu	37	2	179474015	179474015	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr2:179474015C>A	ENST00000589042.1	-	273	52246	c.52022G>T	c.(52021-52023)cGa>cTa	p.R17341L	TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R8276L|TTN_ENST00000342175.6_Missense_Mutation_p.R8468L|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R14773L|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R8401L|TTN_ENST00000591111.1_Missense_Mutation_p.R15700L|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589487.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	15700	Fibronectin type-III 25.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATGGTCAGGTCGGAGAGAATC	0.438000													21	22					8.34094e-07	9.9323e-07	0.008871	1	0
HEATR5B	54497	broad.mit.edu	37	2	37283695	37283695	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr2:37283695G>A	ENST00000233099.5	-	16	2382	c.2287C>T	c.(2287-2289)Cgc>Tgc	p.R763C	HEATR5B_ENST00000354531.2_Missense_Mutation_p.R763C	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	763							binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				GCAGGTATGCGTAAATAAATA	0.463000													13	112					0	0	0.001368	0	0
COQ10B	80219	broad.mit.edu	37	2	198324753	198324753	+	Missense_Mutation	SNP	A	A	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr2:198324753A>G	ENST00000263960.2	+	2	340	c.202A>G	c.(202-204)Act>Gct	p.T68A	COQ10B_ENST00000409010.1_Missense_Mutation_p.T40A|COQ10B_ENST00000409398.1_Intron|COQ10B_ENST00000545340.1_Missense_Mutation_p.T25A	NM_025147.3	NP_079423.1	Q9H8M1	CQ10B_HUMAN	coenzyme Q10 homolog B (S. cerevisiae)	68						mitochondrial inner membrane				endometrium(1)|large_intestine(2)|lung(3)	6			Epithelial(96;0.231)|OV - Ovarian serous cystadenocarcinoma(117;0.246)			CTTCAAAATCACTGCACCATT	0.343000													9	42					0	0	0.004482	0	0
AGO1	26523	broad.mit.edu	37	1	36354197	36354197	+	Silent	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr1:36354197C>T	ENST00000373204.4	+	2	408	c.195C>T	c.(193-195)ccC>ccT	p.P65P	AGO1_ENST00000373206.1_5'UTR	NM_012199.2	NP_036331.1			argonaute RISC catalytic component 1																		ATAAGTGTCCCCGTAGAGTCA	0.488000													13	34					0	0	0.001368	0	0
RAB39B	116442	broad.mit.edu	37	X	154493454	154493454	+	Silent	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chrX:154493454G>T	ENST00000369454.3	-	1	420	c.120C>A	c.(118-120)acC>acA	p.T40T		NM_171998.2	NP_741995.1	Q96DA2	RB39B_HUMAN	RAB39B, member RAS oncogene family	40					protein transport|small GTPase mediated signal transduction|synapse organization|vesicle-mediated transport	Golgi apparatus|plasma membrane	GTP binding			breast(1)|central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(12)	19	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					CCACCCCCACGGTGGGGTCAG	0.592000													29	53					8.58068e-18	1.41352e-17	0.007291	1	0
NKPD1	284353	broad.mit.edu	37	19	45655644	45655644	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr19:45655644G>T	ENST00000317951.4	-	4	2050	c.2051C>A	c.(2050-2052)cCc>cAc	p.P684H	NKPD1_ENST00000589776.1_Missense_Mutation_p.P462H|NKPD1_ENST00000429338.1_Missense_Mutation_p.P462H|NKPD1_ENST00000438936.2_Missense_Mutation_p.P462H	NM_198478.3	NP_940880.3			NTPase, KAP family P-loop domain containing 1											endometrium(1)|lung(4)|prostate(2)|urinary_tract(1)	8		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00863)|GBM - Glioblastoma multiforme(486;0.231)		gcggccctcgggcgcgccccc	0.726000													7	2					0.00307968	0.00326216	0.003080	1	0
ABCG8	64241	broad.mit.edu	37	2	44079825	44079825	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr2:44079825G>T	ENST00000272286.2	+	6	872	c.782G>T	c.(781-783)gGc>gTc	p.G261V		NM_022437.2	NP_071882.1	Q9H221	ABCG8_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 8	261	ABC transporter.				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				CTGGCCAAAGGCAACCGGCTG	0.562000													34	25					3.67414e-24	6.67523e-24	0.002445	1	0
GATA4	2626	broad.mit.edu	37	8	11615981	11615981	+	Silent	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr8:11615981G>T	ENST00000335135.4	+	7	1884	c.1326G>T	c.(1324-1326)gcG>gcT	p.A442A	GATA4_ENST00000532059.1_Silent_p.A443A|GATA4_ENST00000528712.1_Silent_p.A236A	NM_002052.3	NP_002043.2	P43694	GATA4_HUMAN	GATA binding protein 4	442					atrial septum primum morphogenesis|atrial septum secundum morphogenesis|blood coagulation|cardiac right ventricle morphogenesis|cell-cell signaling|embryonic foregut morphogenesis|embryonic heart tube anterior/posterior pattern formation|endocardial cushion development|endoderm development|heart looping|intestinal epithelial cell differentiation|male gonad development|positive regulation of angiogenesis|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation vascular endothelial growth factor production|response to drug|transcription from RNA polymerase II promoter|ventricular septum development	nucleoplasm	activating transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(10)	13	all_epithelial(15;0.0839)		STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.199)		TAATCACTGCGTAATCTTCCC	0.602000													9	34					0.000978159	0.00105542	0.000978	1	0
ESRRB	2103	broad.mit.edu	37	14	76965096	76965096	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr14:76965096G>T	ENST00000261532.7	+	8	1396	c.1324G>T	c.(1324-1326)Gag>Tag	p.E442*	RP11-187O7.3_ENST00000554926.1_lincRNA|ESRRB_ENST00000509242.1_Intron|ESRRB_ENST00000380887.2_Intron			A2VDJ2	A2VDJ2_HUMAN	estrogen-related receptor beta	0						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(2)|large_intestine(4)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(234;0.0213)		CTCCCTTCAGGAGTGGAGGCC	0.612000													7	12					3.86212e-05	4.34189e-05	0.008291	1	0
SLC5A7	60482	broad.mit.edu	37	2	108626928	108626928	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr2:108626928C>A	ENST00000264047.2	+	9	1630	c.1354C>A	c.(1354-1356)Cca>Aca	p.P452T	SLC5A7_ENST00000540517.1_Missense_Mutation_p.P347T|SLC5A7_ENST00000409059.1_Missense_Mutation_p.P452T	NM_021815.2	NP_068587.1	Q9GZV3	SC5A7_HUMAN	solute carrier family 5 (sodium/choline cotransporter), member 7	452					acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	TGGAGGGGAGCCATATCTGTA	0.448000													20	54					1.36565e-18	2.30204e-18	0.002780	1	0
DST	667	broad.mit.edu	37	6	56397174	56397174	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr6:56397174T>A	ENST00000370754.5	-	64	16982	c.16983A>T	c.(16981-16983)agA>agT	p.R5661S	DST_ENST00000340834.4_5'UTR|DST_ENST00000446842.2_Missense_Mutation_p.R5157S|DST_ENST00000370788.2_Missense_Mutation_p.R3395S|DST_ENST00000370769.4_Missense_Mutation_p.R5483S|DST_ENST00000361203.3_Missense_Mutation_p.R5481S|DST_ENST00000312431.6_3'UTR|DST_ENST00000421834.2_Missense_Mutation_p.R3395S|DST_ENST00000244364.6_Missense_Mutation_p.R3069S			Q03001	DYST_HUMAN	dystonin	5481					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			ATGCCTCCCATCTGCTATCCA	0.408000													25	17					0	0	0.004656	0	0
SERPINA12	145264	broad.mit.edu	37	14	94964309	94964309	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr14:94964309C>A	ENST00000341228.2	-	3	1221	c.426G>T	c.(424-426)caG>caT	p.Q142H	SERPINA12_ENST00000556881.1_Missense_Mutation_p.Q142H	NM_173850.2	NP_776249.1	Q8IW75	SPA12_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12	142			Q -> K (in dbSNP:rs17090972).		regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33				COAD - Colon adenocarcinoma(157;0.235)		GCTGCAGCCTCTGGTCAATGA	0.468000													31	45					1.26612e-14	1.95244e-14	0.003271	1	0
ANKLE2	23141	broad.mit.edu	37	12	133312078	133312078	+	Silent	SNP	G	G	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr12:133312078G>C	ENST00000539605.1	-	8	8112	c.1428C>G	c.(1426-1428)ctC>ctG	p.L476L	ANKLE2_ENST00000357997.5_Silent_p.L538L|ANKLE2_ENST00000337516.5_Silent_p.L538L			Q86XL3	ANKL2_HUMAN	ankyrin repeat and LEM domain containing 2	538						cytoplasm|integral to membrane|nuclear envelope				NS(2)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(20)|ovary(1)|urinary_tract(2)	45	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06)		GAGTTTTCCAGAGCTTGCGAA	0.517000													55	125					0	0	0.003610	0	0
GYG2	8908	broad.mit.edu	37	X	2773087	2773087	+	Silent	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chrX:2773087G>A	ENST00000381163.3	+	6	753	c.471G>A	c.(469-471)ccG>ccA	p.P157P	GYG2_ENST00000542787.1_Silent_p.P157P|GYG2_ENST00000338623.5_Silent_p.P157P|GYG2_ENST00000398806.3_Silent_p.P126P|GYG2_ENST00000381161.1_3'UTR	NM_001079855.1|NM_001184702.1|NM_003918.2	NP_001073324.1|NP_001171631.1|NP_003909.2	O15488	GLYG2_HUMAN	glycogenin 2	157					glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|soluble fraction	glycogenin glucosyltransferase activity	p.P157P(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)	13		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CTGCGGCCCCGGACCCCGGAT	0.557000													25	57					0	0	0.003954	0	0
L1CAM	3897	broad.mit.edu	37	X	153132925	153132925	+	Missense_Mutation	SNP	T	T	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chrX:153132925T>C	ENST00000370060.1	-	17	2212	c.2023A>G	c.(2023-2025)Acc>Gcc	p.T675A	L1CAM_ENST00000361981.3_Missense_Mutation_p.T670A|L1CAM_ENST00000370057.3_Missense_Mutation_p.T675A|L1CAM_ENST00000361699.4_Missense_Mutation_p.T675A|L1CAM_ENST00000538883.1_Missense_Mutation_p.T677A|L1CAM_ENST00000543994.1_Missense_Mutation_p.T677A|L1CAM_ENST00000370055.1_Missense_Mutation_p.T670A	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	675	Fibronectin type-III 1.				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane				NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TTGAGGGTGGTAGAGGTCTGG	0.512000													39	139					0	0	0.009718	0	0
TBC1D17	79735	broad.mit.edu	37	19	50387984	50387984	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr19:50387984G>T	ENST00000221543.5	+	13	1712	c.1413G>T	c.(1411-1413)agG>agT	p.R471S	TBC1D17_ENST00000535102.2_Missense_Mutation_p.R438S	NM_024682.2	NP_078958.2	Q9HA65	TBC17_HUMAN	TBC1 domain family, member 17	471	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			NS(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15		all_lung(116;0.000338)|Lung NSC(112;0.000446)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.017)		TGCTCCTGAGGGTGCTGGACC	0.607000													14	26					8.28177e-16	1.3106e-15	0.007413	1	0
LILRP2	79166	broad.mit.edu	37	19	55221263	55221263	+	RNA	SNP	T	T	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr19:55221263T>G	ENST00000413439.1	+	0	1118																											CAGTGAGACCTGCAGGGCCAG	0.582000													5	6					0	0	0.001168	0	0
PCMTD1	115294	broad.mit.edu	37	8	52733193	52733193	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr8:52733193C>A	ENST00000360540.5	-	7	1198	c.792G>T	c.(790-792)caG>caT	p.Q264H	PCMTD1_ENST00000519559.1_5'UTR|PCMTD1_ENST00000544451.1_Missense_Mutation_p.Q188H|PCMTD1_ENST00000522514.1_Missense_Mutation_p.Q264H	NM_052937.2	NP_443169.2	Q96MG8	PCMD1_HUMAN	protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1	264						cytoplasm	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity			NS(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(17)|prostate(2)|skin(8)|soft_tissue(1)	37		Lung NSC(129;0.0795)|all_lung(136;0.144)				TCCCCTTGGCCTGCATCTCAT	0.408000													14	136					2.61681e-11	3.65043e-11	0.002450	1	0
FLG	2312	broad.mit.edu	37	1	152283963	152283963	+	Silent	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr1:152283963C>T	ENST00000368799.1	-	3	3434	c.3399G>A	c.(3397-3399)cgG>cgA	p.R1133R	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1133	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGGTCCTGGTCCGCCCATGGG	0.592000									Ichthyosis				105	236					0	0	0.003610	0	0
COL4A1	1282	broad.mit.edu	37	13	110859048	110859048	+	Silent	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr13:110859048G>A	ENST00000375820.4	-	15	943	c.822C>T	c.(820-822)gtC>gtT	p.V274V	COL4A1_ENST00000543140.1_Silent_p.V274V	NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	274	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			CTTTCTCTCCGACCCCTGGCA	0.363000													26	60					0	0	0.002096	0	0
EYA2	2139	broad.mit.edu	37	20	45717947	45717947	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr20:45717947C>A	ENST00000327619.5	+	8	1105	c.731C>A	c.(730-732)gCc>gAc	p.A244D	EYA2_ENST00000317304.6_Missense_Mutation_p.A244D|EYA2_ENST00000357410.3_Missense_Mutation_p.A244D	NM_005244.4	NP_005235.3	O00167	EYA2_HUMAN	eyes absent homolog 2 (Drosophila)	244					DNA repair|histone dephosphorylation|mesodermal cell fate specification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	magnesium ion binding|protein binding|protein tyrosine phosphatase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0241)				CCGCACCGGGCCTCCGACGGG	0.577000													40	66					9.85913e-13	1.43046e-12	0.009718	1	0
GPR124	25960	broad.mit.edu	37	8	37698729	37698729	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr8:37698729C>A	ENST00000315215.7	+	16	2585	c.2222C>A	c.(2221-2223)cCc>cAc	p.P741H	GPR124_ENST00000412232.2_Missense_Mutation_p.P958H			Q96PE1	GP124_HUMAN	G protein-coupled receptor 124	958	GPS.				central nervous system development|endothelial cell migration|neuropeptide signaling pathway|regulation of angiogenesis|regulation of chemotaxis|sprouting angiogenesis	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37			BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			GCACAGAACCCCAAGGCGGGC	0.637000													12	27					1.08611e-07	1.34879e-07	0.000978	1	0
OR13J1	392309	broad.mit.edu	37	9	35869787	35869787	+	Silent	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr9:35869787G>T	ENST00000377981.2	-	1	674	c.612C>A	c.(610-612)atC>atA	p.I204I		NM_001004487.1	NP_001004487.1	Q8NGT2	O13J1_HUMAN	olfactory receptor, family 13, subfamily J, member 1	204					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|large_intestine(1)|lung(3)|skin(1)	6	all_epithelial(49;0.169)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00494)|STAD - Stomach adenocarcinoma(86;0.194)			GCAGCAGCAGGATGGAGCCCG	0.617000													15	13					1.49906e-05	1.71456e-05	0.002450	1	0
OR2T6	254879	broad.mit.edu	37	1	248551323	248551323	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr1:248551323G>T	ENST00000355728.2	+	1	414	c.414G>T	c.(412-414)tgG>tgT	p.W138C		NM_001005471.1	NP_001005471.1	Q8NHC8	OR2T6_HUMAN	olfactory receptor, family 2, subfamily T, member 6	138					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(5)|lung(38)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TCATCAGCTGGCGGGTCTGCT	0.582000													26	32					4.22769e-11	5.85249e-11	0.006320	1	0
PLD1	5337	broad.mit.edu	37	3	171451267	171451267	+	Silent	SNP	T	T	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr3:171451267T>C	ENST00000356327.5	-	6	643	c.573A>G	c.(571-573)ctA>ctG	p.L191L	PLD1_ENST00000351298.4_Silent_p.L191L|PLD1_ENST00000342215.6_Silent_p.L191L|PLD1_ENST00000340989.4_Silent_p.L191L	NM_001130081.2	NP_001123553.1	Q13393	PLD1_HUMAN	phospholipase D1, phosphatidylcholine-specific	191	PX.				cell communication|chemotaxis|Ras protein signal transduction	endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	TGGGCATTTTTAGTATCTTTG	0.279000													24	46					0	0	0.007291	0	0
ZFPM2	23414	broad.mit.edu	37	8	106815570	106815570	+	Missense_Mutation	SNP	A	A	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr8:106815570A>G	ENST00000407775.2	+	8	3510	c.3260A>G	c.(3259-3261)aAt>aGt	p.N1087S	ZFPM2_ENST00000520492.1_Missense_Mutation_p.N955S|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000509144.2_RNA|RP11-152P17.2_ENST00000521622.1_RNA|RP11-152P17.2_ENST00000520594.1_RNA|ZFPM2_ENST00000378472.4_Missense_Mutation_p.N818S|RP11-152P17.2_ENST00000524045.2_RNA|ZFPM2_ENST00000517361.1_Missense_Mutation_p.N955S	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	1087					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			TTAGCTGCCAATGAGAATGTC	0.498000													8	21					0	0	0.004482	0	0
UHRF1BP1	54887	broad.mit.edu	37	6	34789481	34789481	+	Silent	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr6:34789481G>A	ENST00000192788.5	+	2	267	c.96G>A	c.(94-96)ggG>ggA	p.G32G	UHRF1BP1_ENST00000452449.2_Silent_p.G32G	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	32										breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						CCCTGAAAGGGGAGGGTCAGC	0.478000													48	51					0	0	0.003610	0	0
FCRL6	343413	broad.mit.edu	37	1	159778918	159778918	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr1:159778918C>A	ENST00000321935.6	+	5	594	c.508C>A	c.(508-510)Cca>Aca	p.P170T	FCRL6_ENST00000392235.3_Intron|FCRL6_ENST00000368106.3_Missense_Mutation_p.P163T|FCRL6_ENST00000339348.5_Missense_Mutation_p.P163T			Q6DN72	FCRL6_HUMAN	Fc receptor-like 6	163	Ig-like C2-type 2.					integral to membrane				NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	24	all_hematologic(112;0.0597)					GGGCCCTCACCCAGAACTCTG	0.622000													7	47					1.76689e-08	2.24821e-08	0.006214	1	0
CCDC40	55036	broad.mit.edu	37	17	78055541	78055541	+	Missense_Mutation	SNP	A	A	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr17:78055541A>G	ENST00000397545.4	+	11	1786	c.1759A>G	c.(1759-1761)Agg>Ggg	p.R587G	CCDC40_ENST00000374877.3_Missense_Mutation_p.R587G	NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	587					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			CAATACCTACAGGCTCACCCT	0.642000													6	18					0	0	0.001984	0	0
WNT9A	7483	broad.mit.edu	37	1	228109639	228109639	+	Silent	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr1:228109639C>T	ENST00000272164.5	-	4	688	c.678G>A	c.(676-678)gtG>gtA	p.V226V	WNT9A_ENST00000497852.1_Intron	NM_003395.2	NP_003386.1	O14904	WNT9A_HUMAN	wingless-type MMTV integration site family, member 9A	226					anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|cornea development in camera-type eye|embryonic arm morphogenesis|embryonic skeletal joint morphogenesis|endoderm development|iris morphogenesis|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|neuron differentiation|positive regulation of smoothened signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|G-protein-coupled receptor binding|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19		Prostate(94;0.0405)				AGCAGGTCCGCACCGTGCATG	0.627000													9	54					0	0	0.004482	0	0
NOX3	50508	broad.mit.edu	37	6	155728288	155728288	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr6:155728288T>A	ENST00000159060.2	-	12	1658	c.1556A>T	c.(1555-1557)aAg>aTg	p.K519M		NM_015718.2	NP_056533.1	Q9HBY0	NOX3_HUMAN	NADPH oxidase 3	519							electron carrier activity|flavin adenine dinucleotide binding|iron ion binding			cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	45		Breast(66;0.0183)		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)		GGCAATCTGCTTGAACTCATT	0.488000													8	28					0	0	0.004482	0	0
OR56A1	120796	broad.mit.edu	37	11	6047984	6047984	+	Silent	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr11:6047984C>A	ENST00000316650.5	-	1	987	c.951G>T	c.(949-951)ggG>ggT	p.G317G		NM_001001917.2	NP_001001917.2	Q8NGH5	O56A1_HUMAN	olfactory receptor, family 56, subfamily A, member 1	317					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(22)|ovary(2)	33		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATATTCACCTCCCTCTCTGCA	0.413000													14	25					1.49906e-05	1.71456e-05	0.002450	1	0
CREBBP	1387	broad.mit.edu	37	16	3777847	3777847	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr16:3777847C>A	ENST00000262367.5	-	31	8010	c.7201G>T	c.(7201-7203)Ggg>Tgg	p.G2401W	CREBBP_ENST00000382070.3_Missense_Mutation_p.G2363W	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	2401					cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		TCGGGGTTCCCCAAGTGTCCC	0.652000			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome						32	53					9.78306e-22	1.72125e-21	0.009535	1	0
ZNF653	115950	broad.mit.edu	37	19	11597835	11597835	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr19:11597835G>A	ENST00000293771.5	-	5	1446	c.1310C>T	c.(1309-1311)gCc>gTc	p.A437V	CTC-398G3.6_ENST00000585656.1_Intron	NM_138783.3	NP_620138.2	Q96CK0	ZN653_HUMAN	zinc finger protein 653	437					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	17						ATAGATGATGGCTGACATGTC	0.677000													14	23					0	0	0.002450	0	0
SERPINA4	5267	broad.mit.edu	37	14	95029947	95029947	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr14:95029947G>A	ENST00000557004.1	+	2	549	c.128G>A	c.(127-129)gGt>gAt	p.G43D	SERPINA4_ENST00000298841.5_Missense_Mutation_p.G43D|SERPINA5_ENST00000553780.1_Intron|SERPINA4_ENST00000555095.1_Missense_Mutation_p.G43D			P29622	KAIN_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4	43					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(28)|ovary(3)|skin(1)|urinary_tract(1)	46				COAD - Colon adenocarcinoma(157;0.211)		CTGGAGACAGGTGAGGGCTCC	0.562000													14	33					0	0	0.002450	0	0
CELF3	11189	broad.mit.edu	37	1	151682231	151682231	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr1:151682231C>T	ENST00000290583.4	-	3	1058	c.265G>A	c.(265-267)Gag>Aag	p.E89K	CELF3_ENST00000290585.4_Missense_Mutation_p.E89K|CELF3_ENST00000470688.1_5'UTR	NM_001172648.1|NM_007185.4	NP_001166119.1|NP_009116.3	Q5SZQ8	CELF3_HUMAN	CUGBP, Elav-like family member 3	89					nuclear mRNA splicing, via spliceosome|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	mRNA binding|nucleotide binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)	21						CCTCGGCTCTCGCTGTCGGCT	0.622000													11	61					0	0	0.008871	0	0
SORCS1	114815	broad.mit.edu	37	10	108339226	108339226	+	Missense_Mutation	SNP	A	A	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr10:108339226A>G	ENST00000263054.6	-	25	3279	c.3272T>C	c.(3271-3273)cTg>cCg	p.L1091P	SORCS1_ENST00000369698.1_Missense_Mutation_p.L626P|SORCS1_ENST00000344440.6_Missense_Mutation_p.L1091P	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	1091						integral to membrane	neuropeptide receptor activity|protein binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		GAGGTCCACCAGGGGGGCTTG	0.517000													6	22					0	0	0.003080	0	0
KCNV2	169522	broad.mit.edu	37	9	2718331	2718331	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr9:2718331T>A	ENST00000382082.3	+	1	830	c.592T>A	c.(592-594)Tgc>Agc	p.C198S		NM_133497.3	NP_598004.1	Q8TDN2	KCNV2_HUMAN	potassium channel, subfamily V, member 2	198						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	35				GBM - Glioblastoma multiforme(50;0.0257)		CACGCCACGCTGCTGCCGCAT	0.697000													3	9					0	0	0.004672	0	0
CAND1	55832	broad.mit.edu	37	12	67696315	67696315	+	Missense_Mutation	SNP	A	A	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr12:67696315A>T	ENST00000545606.1	+	8	1650	c.1213A>T	c.(1213-1215)Act>Tct	p.T405S		NM_018448.3	NP_060918.2	Q86VP6	CAND1_HUMAN	cullin-associated and neddylation-dissociated 1	405					cell differentiation|negative regulation of catalytic activity|protein ubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|ubiquitin ligase complex	protein binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)	35			GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)		TTTGAAGCAAACTCGTCCTGT	0.418000													69	26					0	0	0.003610	0	0
SLC4A2	6522	broad.mit.edu	37	7	150767073	150767073	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr7:150767073G>T	ENST00000485713.1	+	9	2227	c.1187G>T	c.(1186-1188)gGa>gTa	p.G396V	SLC4A2_ENST00000310317.5_Missense_Mutation_p.G314V|SLC4A2_ENST00000392826.2_Missense_Mutation_p.G387V|SLC4A2_ENST00000461735.1_Missense_Mutation_p.G382V|SLC4A2_ENST00000413384.2_Missense_Mutation_p.G396V	NM_001199692.1	NP_001186621.1	P04920	B3A2_HUMAN	solute carrier family 4 (anion exchanger), member 2	396					bicarbonate transport	integral to membrane|membrane fraction	inorganic anion exchanger activity			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(14)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		ACCCTGCCCGGAGTGGCCCAC	0.607000													22	11					7.41877e-09	9.60857e-09	0.001882	1	0
FAM65C	140876	broad.mit.edu	37	20	49208924	49208924	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr20:49208924G>A	ENST00000327979.2	-	19	2933	c.2522C>T	c.(2521-2523)gCt>gTt	p.A841V	FAM65C_ENST00000535356.1_Missense_Mutation_p.A845V|FAM65C_ENST00000045083.2_Missense_Mutation_p.A841V			Q96MK2	FA65C_HUMAN	family with sequence similarity 65, member C	841										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(1)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						AGCCAGGCGAGCGCTGGCCGC	0.657000													25	63					0	0	0.008361	0	0
ACACB	32	broad.mit.edu	37	12	109613743	109613743	+	Silent	SNP	A	A	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr12:109613743A>T	ENST00000338432.7	+	8	1343	c.1224A>T	c.(1222-1224)acA>acT	p.T408T	ACACB_ENST00000377848.3_Silent_p.T408T|ACACB_ENST00000377854.5_Silent_p.T408T			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	408	Biotin carboxylation.				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	CAGGCCTGACAGTGGAGTGGA	0.502000													7	34					0	0	0.003080	0	0
MYO18B	84700	broad.mit.edu	37	22	26298650	26298650	+	Nonsense_Mutation	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr22:26298650C>T	ENST00000335473.7	+	30	5144	c.4894C>T	c.(4894-4896)Cag>Tag	p.Q1632*	MYO18B_ENST00000536204.1_3'UTR|MYO18B_ENST00000536101.1_Nonsense_Mutation_p.Q1632*|MYO18B_ENST00000407587.2_Nonsense_Mutation_p.Q1633*	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	1632	Tail.					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						GAAAGTGACCCAGGAGAACAC	0.577000													8	2					0	0	0.003080	0	0
FAM181A	90050	broad.mit.edu	37	14	94395378	94395378	+	Silent	SNP	C	C	A	rs34468063		TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr14:94395378C>A	ENST00000267594.5	+	3	1240	c.933C>A	c.(931-933)ccC>ccA	p.P311P	FAM181A_ENST00000557000.2_Silent_p.P249P|FAM181A_ENST00000557719.1_Silent_p.P249P|FAM181A_ENST00000556222.1_Silent_p.P249P	NM_001207073.1|NM_001207074.1|NM_138344.4	NP_001194002.1|NP_001194003.1|NP_612353.3	Q8N9Y4	F181A_HUMAN	family with sequence similarity 181, member A	311										cervix(1)|endometrium(2)|large_intestine(8)|lung(4)|prostate(1)|skin(2)	18						CAGCCTTTCCCGGGGAGCTGG	0.672000													12	23					5.50884e-06	6.35601e-06	0.001368	1	0
COL20A1	57642	broad.mit.edu	37	20	61945437	61945437	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr20:61945437G>T	ENST00000422202.1	+	18	2461	c.2393G>T	c.(2392-2394)gGa>gTa	p.G798V	COL20A1_ENST00000326996.6_Missense_Mutation_p.G791V|COL20A1_ENST00000358894.6_Missense_Mutation_p.G791V|COL20A1_ENST00000435874.1_Missense_Mutation_p.G798V			Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	791	Fibronectin type-III 6.				cell adhesion	collagen|extracellular space	structural molecule activity			NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					TCTGTGCCAGGAGCCAGGAGC	0.637000													14	16					4.14922e-12	5.91345e-12	0.004007	1	0
GPR148	344561	broad.mit.edu	37	2	131487721	131487721	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr2:131487721G>T	ENST00000309926.4	+	1	1079	c.997G>T	c.(997-999)Ggc>Tgc	p.G333C		NM_207364.2	NP_997247.2	Q8TDV2	GP148_HUMAN	G protein-coupled receptor 148	333						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(15)|skin(3)|upper_aerodigestive_tract(1)	27	Colorectal(110;0.1)					CATGGTCCGGGGCCACCTCCC	0.542000													11	14					3.86212e-05	4.34189e-05	0.008291	1	0
SFSWAP	6433	broad.mit.edu	37	12	132249067	132249067	+	Missense_Mutation	SNP	A	A	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr12:132249067A>T	ENST00000261674.4	+	12	1928	c.1787A>T	c.(1786-1788)aAt>aTt	p.N596I	SFSWAP_ENST00000541286.1_Missense_Mutation_p.N596I	NM_004592.3	NP_004583.2	Q12872	SFSWA_HUMAN	splicing factor, suppressor of white-apricot homolog (Drosophila)	596					mRNA splice site selection|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|RNA binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(8)|ovary(1)|skin(2)	25						CTGGAAAAAAATCGTGTTAAG	0.408000													6	76					0	0	0.001168	0	0
DTNA	1837	broad.mit.edu	37	18	32335943	32335943	+	Translation_Start_Site	SNP	G	G	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr18:32335943G>C	ENST00000283365.9	+	3	354	c.3G>C	c.(1-3)atG>atC	p.M1I	DTNA_ENST00000598142.1_Start_Codon_SNP_p.M1I|DTNA_ENST00000595022.1_Start_Codon_SNP_p.M1I|DTNA_ENST00000598334.1_Start_Codon_SNP_p.M1I|DTNA_ENST00000554864.3_Start_Codon_SNP_p.M1I|DTNA_ENST00000598774.1_Start_Codon_SNP_p.M1I|DTNA_ENST00000269191.6_Start_Codon_SNP_p.M1I|DTNA_ENST00000348997.5_Start_Codon_SNP_p.M1I|DTNA_ENST00000269190.7_Start_Codon_SNP_p.M1I|DTNA_ENST00000399121.5_Start_Codon_SNP_p.M1I|RP11-138H11.1_ENST00000596954.1_RNA|DTNA_ENST00000399097.3_5'UTR|DTNA_ENST00000399113.3_Start_Codon_SNP_p.M1I|DTNA_ENST00000444659.1_Start_Codon_SNP_p.M1I|DTNA_ENST00000596745.1_Start_Codon_SNP_p.M1I|DTNA_ENST00000597599.1_Start_Codon_SNP_p.M1I|DTNA_ENST00000315456.6_Start_Codon_SNP_p.M1I	NM_032975.3	NP_116757.2	Q9Y4J8	DTNA_HUMAN	dystrobrevin, alpha	1	Interaction with MAGEE1 (By similarity).				neuromuscular synaptic transmission|signal transduction|striated muscle contraction	cell junction|cytoplasm|synapse	calcium ion binding|protein binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(2)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	29						CTCATAGAATGATTGAAGATA	0.378000													16	34					0	0	0.007413	0	0
TNN	63923	broad.mit.edu	37	1	175046639	175046639	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr1:175046639G>T	ENST00000239462.4	+	2	198	c.85G>T	c.(85-87)Gag>Tag	p.E29*		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	29					cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		AGCCACTCTGGAGCCTCCCGG	0.597000													8	19					9.95505e-16	1.56514e-15	0.002299	1	0
SPTA1	6708	broad.mit.edu	37	1	158639227	158639227	+	Missense_Mutation	SNP	T	T	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr1:158639227T>C	ENST00000368148.3	-	14	1984	c.1804A>G	c.(1804-1806)Aaa>Gaa	p.K602E	SPTA1_ENST00000368147.3_Missense_Mutation_p.K602E	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	602					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GCCAACTTTTTCTTCTTGTTG	0.418000													32	218					0	0	0.003271	0	0
SORCS3	22986	broad.mit.edu	37	10	106974319	106974319	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr10:106974319G>T	ENST00000369701.3	+	18	2722	c.2495G>T	c.(2494-2496)cGg>cTg	p.R832L	SORCS3_ENST00000369699.4_Missense_Mutation_p.R118L	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	832	PKD.					integral to membrane	neuropeptide receptor activity	p.R832L(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		ACCGATGGGCGGCTGGTGGCA	0.582000													9	19					1.12685e-05	1.29293e-05	0.004482	1	0
C17orf74	201243	broad.mit.edu	37	17	7330190	7330190	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr17:7330190C>A	ENST00000333870.3	+	3	954	c.880C>A	c.(880-882)Ccc>Acc	p.P294T	C17orf74_ENST00000574034.1_3'UTR|RP11-104H15.7_ENST00000575310.1_RNA	NM_175734.4	NP_783861.3	Q0P670	CQ074_HUMAN	chromosome 17 open reading frame 74	294						integral to membrane				cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	22		Prostate(122;0.157)				CTCTTGGGTCCCCGTGGGGCA	0.677000													19	15					1.64113e-05	1.8741e-05	0.010504	1	0
SVEP1	79987	broad.mit.edu	37	9	113198698	113198698	+	Nonsense_Mutation	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr9:113198698G>A	ENST00000401783.2	-	28	5062	c.4726C>T	c.(4726-4728)Cag>Tag	p.Q1576*	SVEP1_ENST00000374469.1_Nonsense_Mutation_p.Q1553*	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	1576	Pentaxin.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						AGGTTGAGCTGGCTTATGGAG	0.468000													21	18					0	0	0.010504	0	0
CTSA	5476	broad.mit.edu	37	20	44527062	44527062	+	Silent	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr20:44527062C>T	ENST00000372484.3	+	15	1752	c.1470C>T	c.(1468-1470)tcC>tcT	p.S490S	CTSA_ENST00000372459.2_Silent_p.S472S|CTSA_ENST00000354880.5_Silent_p.S473S|CTSA_ENST00000191018.5_Silent_p.S472S	NM_000308.2|NM_001127695.1	NP_000299.2|NP_001121167.1	P10619	PPGB_HUMAN	cathepsin A	472					intracellular protein transport|proteolysis	endoplasmic reticulum|lysosome|nucleus	enzyme activator activity|protein binding|serine-type carboxypeptidase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.0122)				CCATGTTCTCCCGCTTCCTGA	0.612000													4	33					0	0	0.000602	0	0
TSHZ3	57616	broad.mit.edu	37	19	31767730	31767730	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr19:31767730G>C	ENST00000240587.4	-	2	3296	c.2969C>G	c.(2968-2970)aCg>aGg	p.T990R		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	990					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					ACTGATGTACGTGGAAGGAGT	0.483000													13	33					0	0	0.001368	0	0
WFDC5	149708	broad.mit.edu	37	20	43739107	43739107	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr20:43739107C>A	ENST00000307971.4	-	3	379	c.301G>T	c.(301-303)Gac>Tac	p.D101Y	WFDC5_ENST00000372789.4_Missense_Mutation_p.D101Y			Q8TCV5	WFDC5_HUMAN	WAP four-disulfide core domain 5	101	WAP 2.					extracellular region	serine-type endopeptidase inhibitor activity			kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	5		Myeloproliferative disorder(115;0.0122)				CCCGAGCAGTCTGAGTCCTTG	0.647000													4	13					0.00024832	0.000271987	0.009096	1	0
ABCC12	94160	broad.mit.edu	37	16	48167679	48167679	+	Silent	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr16:48167679C>T	ENST00000311303.3	-	7	1392	c.1047G>A	c.(1045-1047)ctG>ctA	p.L349L	ABCC12_ENST00000416054.1_Silent_p.L349L|ABCC12_ENST00000448542.1_Silent_p.L349L	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	349	ABC transmembrane type-1 1.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				CGATGGGGGCCAGGGCAGAGT	0.498000													13	24					0	0	0.003163	0	0
CACNA1I	8911	broad.mit.edu	37	22	40055735	40055735	+	Missense_Mutation	SNP	T	T	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr22:40055735T>C	ENST00000336649.4	+	17	2500	c.2500T>C	c.(2500-2502)Tac>Cac	p.Y834H	CACNA1I_ENST00000404898.1_Missense_Mutation_p.Y793H|CACNA1I_ENST00000400164.3_Missense_Mutation_p.Y793H|CACNA1I_ENST00000401624.1_Missense_Mutation_p.Y828H|CACNA1I_ENST00000402142.3_Missense_Mutation_p.Y828H|CACNA1I_ENST00000407673.1_Missense_Mutation_p.Y793H			Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	828					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	CGTCGTTCTCTACAATGGCAT	0.577000													59	72					0	0	0.003610	0	0
CCDC19	25790	broad.mit.edu	37	1	159850393	159850393	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr1:159850393T>A	ENST00000426543.2	-	8	1195	c.740A>T	c.(739-741)cAg>cTg	p.Q247L	CCDC19_ENST00000476696.1_5'UTR|CCDC19_ENST00000368099.4_Missense_Mutation_p.Q332L			Q9UL16	CCD19_HUMAN	coiled-coil domain containing 19	332						mitochondrion|soluble fraction				endometrium(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	26	all_hematologic(112;0.0597)		BRCA - Breast invasive adenocarcinoma(70;0.151)			CAGCTTCTCCTGAGCCAGCAG	0.463000													48	55					0	0	0.003610	0	0
LONRF3	79836	broad.mit.edu	37	X	118140177	118140177	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chrX:118140177G>T	ENST00000365713.2	+	5	1549	c.1386G>T	c.(1384-1386)ttG>ttT	p.L462F	LONRF3_ENST00000422289.2_Missense_Mutation_p.L247F|LONRF3_ENST00000472173.1_3'UTR|LONRF3_ENST00000304778.7_Missense_Mutation_p.L462F|LONRF3_ENST00000371628.3_Missense_Mutation_p.L503F			Q496Y0	LONF3_HUMAN	LON peptidase N-terminal domain and ring finger 3	503					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						AGTGTCCATTGTGCAAAGACG	0.358000													53	131					8.44121e-28	1.57309e-27	0.003610	1	0
NCOA2	10499	broad.mit.edu	37	8	71039095	71039095	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr8:71039095C>T	ENST00000452400.2	-	19	4050	c.3869G>A	c.(3868-3870)cGg>cAg	p.R1290Q	NCOA2_ENST00000267974.4_Missense_Mutation_p.R378Q	NM_006540.2	NP_006531.1	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	1290					cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity		PAX3/NCOA2(4)|HEY1/NCOA2(10)	NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			CTGGGGAATCCGAGGGTTGCT	0.502000			T	"""RUNXBP2, HEY1"""	"""AML, Chondrosarcoma"""								13	19					0	0	0.001855	0	0
VWA2	340706	broad.mit.edu	37	10	116020984	116020984	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr10:116020984C>G	ENST00000603594.1	+	5	622	c.301C>G	c.(301-303)Ctg>Gtg	p.L101V	VWA2_ENST00000392982.3_Missense_Mutation_p.L101V	NM_001272046.1	NP_001258975.1	Q5GFL6	VWA2_HUMAN	von Willebrand factor A domain containing 2	101	VWFA 1.					extracellular region				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26				Epithelial(162;0.036)|all cancers(201;0.0793)		CACTCCTCATCTGGAATTCCC	0.483000													11	131					0	0	0.001855	0	0
ALKBH5	54890	broad.mit.edu	37	17	18110155	18110155	+	Missense_Mutation	SNP	A	A	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr17:18110155A>T	ENST00000399138.4	+	3	883	c.878A>T	c.(877-879)gAa>gTa	p.E293V	ALKBH5_ENST00000541285.1_5'UTR	NM_017758.3	NP_060228.3	Q6P6C2	ALKB5_HUMAN	alkB, alkylation repair homolog 5 (E. coli)	293						integral to membrane	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(2)|ovary(1)|skin(1)	10	all_neural(463;0.228)					CCCCGGTTGGAAACAAAGTCC	0.552000													51	143					0	0	0.003610	0	0
ABCA3	21	broad.mit.edu	37	16	2334802	2334802	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr16:2334802C>T	ENST00000301732.5	-	24	4381	c.3681G>A	c.(3679-3681)atG>atA	p.M1227I	ABCA3_ENST00000382381.3_Missense_Mutation_p.M1169I	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	1227					response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)				TGATGGTGACCATCAGGAAGG	0.622000													10	19					0	0	0.006214	0	0
RRAGC	64121	broad.mit.edu	37	1	39317399	39317399	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr1:39317399C>A	ENST00000373001.3	-	5	963	c.787G>T	c.(787-789)Gat>Tat	p.D263Y		NM_022157.2	NP_071440.1	Q9HB90	RRAGC_HUMAN	Ras-related GTP binding C	263					apoptosis|cell growth|cellular protein localization|cellular response to amino acid stimulus|positive regulation of TOR signaling cascade|RNA splicing|small GTPase mediated signal transduction|transcription, DNA-dependent	lysosome|nucleus	GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein heterodimerization activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)	10	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)				CTGACAACATCAAAGAGAAAA	0.338000													12	39					9.05144e-12	1.28369e-11	0.001855	1	0
IGKV1D-12	28903	broad.mit.edu	37	2	90199170	90199170	+	RNA	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr2:90199170C>A	ENST00000390276.2	+	0	512																											TTACTATTGTCAACAGGCTAA	0.527000													13	126					1.01871e-10	1.39291e-10	0.008871	1	0
SEPT3	55964	broad.mit.edu	37	22	42388689	42388689	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr22:42388689G>T	ENST00000396425.3	+	8	918	c.787G>T	c.(787-789)Gtg>Ttg	p.V263L	SEPT3_ENST00000406029.1_Missense_Mutation_p.V199L|SEPT3_ENST00000291236.11_Missense_Mutation_p.V199L|SEPT3_ENST00000328414.8_3'UTR|SEPT3_ENST00000396426.3_Missense_Mutation_p.V263L	NM_019106.5	NP_061979.3	Q9UH03	SEPT3_HUMAN	septin 3	263					cell cycle|cytokinesis	cell junction|septin complex	GTP binding			breast(1)|kidney(3)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	17						GCCTTTTGCTGTGGTGGGAAG	0.532000													3	13					0.00909568	0.0094684	0.009096	1	0
TSHR	7253	broad.mit.edu	37	14	81610378	81610378	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr14:81610378C>A	ENST00000541158.2	+	11	2298	c.1976C>A	c.(1975-1977)tCc>tAc	p.S659Y	RP11-114N19.3_ENST00000557775.1_RNA|TSHR_ENST00000298171.2_Missense_Mutation_p.S659Y			P16473	TSHR_HUMAN	thyroid stimulating hormone receptor	659			Missing (in hyperthyroidism; associated with hyperfunctioning thyroid adenomas).		cell-cell signaling|positive regulation of cell proliferation	integral to plasma membrane	protein binding|thyroid-stimulating hormone receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1)	337				BRCA - Breast invasive adenocarcinoma(234;0.0402)	Thyrotropin Alfa(DB00024)	GTTAGCAACTCCAAAATCTTG	0.448000			Mis		toxic thyroid adenoma	thyroid  adenoma	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism						45	70					2.43139e-17	3.95135e-17	0.003610	1	0
GFRAL	389400	broad.mit.edu	37	6	55216119	55216119	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr6:55216119C>G	ENST00000340465.2	+	5	525	c.439C>G	c.(439-441)Cag>Gag	p.Q147E		NM_207410.2	NP_997293.2	Q6UXV0	GFRAL_HUMAN	GDNF family receptor alpha like	147						integral to membrane	receptor activity			NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	48	Lung NSC(77;0.0875)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			CTGTAATGCACAGTTGGCCTC	0.458000													26	189					0	0	0.006320	0	0
ENTHD1	150350	broad.mit.edu	37	22	40283560	40283560	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr22:40283560C>A	ENST00000325157.6	-	2	443	c.193G>T	c.(193-195)Ggg>Tgg	p.G65W		NM_152512.3	NP_689725.2	Q8IYW4	ENTD1_HUMAN	ENTH domain containing 1	65	ENTH.									breast(2)|endometrium(1)|kidney(6)|large_intestine(6)|lung(11)|ovary(3)|skin(3)	32	Melanoma(58;0.0749)					CAGTTCTTCCCATGGTCATTG	0.413000													24	119					9.86323e-18	1.62295e-17	0.003954	1	0
ZBTB21	49854	broad.mit.edu	37	21	43413863	43413863	+	Silent	SNP	C	C	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr21:43413863C>G	ENST00000310826.5	-	3	525	c.342G>C	c.(340-342)ctG>ctC	p.L114L	ZBTB21_ENST00000465968.1_Intron|ZBTB21_ENST00000398499.1_Silent_p.L114L|ZBTB21_ENST00000398505.3_Silent_p.L114L|ZBTB21_ENST00000398511.3_Silent_p.L114L	NM_001098402.1	NP_001091872.1			zinc finger and BTB domain containing 21																		CGATGTTAGTCAGAAAGGAAA	0.368000													11	27					0	0	0.001855	0	0
MRPS6	64968	broad.mit.edu	37	21	35514757	35514757	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr21:35514757G>T	ENST00000399312.2	+	3	413	c.235G>T	c.(235-237)Gtg>Ttg	p.V79L	MRPS6_ENST00000482679.1_3'UTR	NM_032476.3	NP_115865.1	P82932	RT06_HUMAN	mitochondrial ribosomal protein S6	79					translation	mitochondrion|small ribosomal subunit	rRNA binding|structural constituent of ribosome			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|pancreas(1)|skin(1)	6						TGAAAGCATGGTGGAGCACTT	0.408000													25	40					6.07407e-21	1.05712e-20	0.007291	1	0
OR9Q2	219957	broad.mit.edu	37	11	57958227	57958227	+	Missense_Mutation	SNP	G	G	A	rs142991971		TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr11:57958227G>A	ENST00000311591.3	+	1	322	c.265G>A	c.(265-267)Ggc>Agc	p.G89S		NM_001005283.2	NP_001005283.1	Q8NGE9	OR9Q2_HUMAN	olfactory receptor, family 9, subfamily Q, member 2	89					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(2)|endometrium(1)|large_intestine(3)|lung(24)|ovary(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41		Breast(21;0.0589)				GTGGGAGCACGGCACAACCAT	0.572000													29	80					0	0	0.009535	0	0
NLRC5	84166	broad.mit.edu	37	16	57104528	57104528	+	Silent	SNP	G	G	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr16:57104528G>C	ENST00000262510.6	+	38	4890	c.4665G>C	c.(4663-4665)ctG>ctC	p.L1555L	NLRC5_ENST00000436936.1_3'UTR|NLRC5_ENST00000308149.7_Silent_p.L1526L|NLRC5_ENST00000539144.1_Silent_p.L1526L	NM_032206.4	NP_115582.4	Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	1555					defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				TAAAGAGGCTGGAGTAAGTAG	0.527000													27	49					0	0	0.007291	0	0
SUCO	51430	broad.mit.edu	37	1	172579351	172579351	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr1:172579351G>T	ENST00000367723.3	+	23	4297	c.4173G>T	c.(4171-4173)gaG>gaT	p.E1391D	SUCO_ENST00000263688.3_Missense_Mutation_p.E1239D	NM_016227.2	NP_057311.2			SUN domain containing ossification factor																		GAAACAAAGAGATCACCGTGG	0.368000													15	34					4.14922e-12	5.91345e-12	0.004007	1	0
TNFRSF19	55504	broad.mit.edu	37	13	24190104	24190104	+	Silent	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr13:24190104G>T	ENST00000382263.3	+	4	463	c.279G>T	c.(277-279)ctG>ctT	p.L93L	TNFRSF19_ENST00000248484.4_Silent_p.L93L|TNFRSF19_ENST00000403372.2_5'UTR|TNFRSF19_ENST00000382258.4_Silent_p.L93L	NM_001204458.1	NP_001191387.1	Q9NS68	TNR19_HUMAN	tumor necrosis factor receptor superfamily, member 19	93					apoptosis|induction of apoptosis|JNK cascade	integral to membrane|mitochondrion	tumor necrosis factor receptor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	22		all_cancers(29;3.4e-22)|all_epithelial(30;8.75e-19)|all_lung(29;5.09e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00193)|Epithelial(112;0.0137)|OV - Ovarian serous cystadenocarcinoma(117;0.0465)|GBM - Glioblastoma multiforme(144;0.184)|Lung(94;0.19)		AGCCCTGTCTGGACTGCGCAG	0.567000													33	19					8.73648e-17	1.40717e-16	0.004289	1	0
TPH1	7166	broad.mit.edu	37	11	18044361	18044361	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr11:18044361C>A	ENST00000250018.2	-	9	1706	c.1144G>T	c.(1144-1146)Gca>Tca	p.A382S	TPH1_ENST00000525406.1_5'UTR|RP1-59M18.2_ENST00000525523.1_RNA|TPH1_ENST00000341556.2_Missense_Mutation_p.A382S	NM_004179.2	NP_004170.1	P17752	TPH1_HUMAN	tryptophan hydroxylase 1	382					aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(14)|prostate(1)|stomach(1)	25					L-Tryptophan(DB00150)|Tetrahydrobiopterin(DB00360)	TTCTCCTTTGCATCTTCAAAA	0.398000													17	19					0.00400662	0.00423783	0.004007	1	0
TMEM68	137695	broad.mit.edu	37	8	56675424	56675424	+	Missense_Mutation	SNP	T	T	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr8:56675424T>G	ENST00000434581.2	-	3	294	c.95A>C	c.(94-96)gAg>gCg	p.E32A	TMEM68_ENST00000523073.1_Intron|TMEM68_ENST00000334667.2_Missense_Mutation_p.E32A|TMEM68_ENST00000519784.1_Intron|TMEM68_ENST00000522576.1_Missense_Mutation_p.E32A|TMEM68_ENST00000521229.1_Missense_Mutation_p.E32A			Q96MH6	TMM68_HUMAN	transmembrane protein 68	32						integral to membrane	acyltransferase activity			NS(1)|kidney(1)|lung(2)|ovary(1)|skin(1)	6			Epithelial(17;0.000361)|all cancers(17;0.00326)			CTCCAACTGCTCCACACCAAA	0.358000													77	220					0	0	0.003610	0	0
IGHV6-1	28385	broad.mit.edu	37	14	106405775	106405775	+	RNA	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr14:106405775G>T	ENST00000390593.2	-	0	250																											AGCCACTCAAGGCCTCTCGAT	0.517000													39	85					4.16155e-14	6.30986e-14	0.008740	1	0
HCN1	348980	broad.mit.edu	37	5	45262526	45262526	+	Missense_Mutation	SNP	C	C	T	rs141383188	byFrequency	TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr5:45262526C>T	ENST00000303230.4	-	8	2227	c.2170G>A	c.(2170-2172)Gcc>Acc	p.A724T		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	724						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						AGCTGGGAGGCGGTGGGGGAG	0.652000													12	26					0	0	0.001855	0	0
ZMYM4	9202	broad.mit.edu	37	1	35852719	35852719	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr1:35852719C>T	ENST00000314607.6	+	12	2032	c.1952C>T	c.(1951-1953)tCt>tTt	p.S651F	ZMYM4_ENST00000373297.2_Missense_Mutation_p.S562F	NM_005095.2	NP_005086.2	Q5VZL5	ZMYM4_HUMAN	zinc finger, MYM-type 4	651					multicellular organismal development		DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2)	54		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GGTAGCACATCTGCTGTTTCT	0.537000													14	22					0	0	0.002450	0	0
INPP5B	3633	broad.mit.edu	37	1	38339795	38339795	+	Silent	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr1:38339795C>T	ENST00000373023.2	-	18	2154	c.2061G>A	c.(2059-2061)ttG>ttA	p.L687L	INPP5B_ENST00000373027.1_Silent_p.L443L|INPP5B_ENST00000373024.3_Silent_p.L607L|INPP5B_ENST00000373026.1_Silent_p.L687L|INPP5B_ENST00000458109.2_3'UTR	NM_005540.2	NP_005531.2	P32019	I5P2_HUMAN	inositol polyphosphate-5-phosphatase, 75kDa	687					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to membrane|microtubule cytoskeleton	GTPase activator activity|inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding			breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(9)|urinary_tract(1)	15	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				ATTCTACTTTCAATTGCATGT	0.453000													9	31					0	0	0.008291	0	0
ENY2	56943	broad.mit.edu	37	8	110355686	110355686	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr8:110355686C>A	ENST00000521688.1	+	5	427	c.282C>A	c.(280-282)ttC>ttA	p.F94L	ENY2_ENST00000522407.1_3'UTR|ENY2_ENST00000520147.1_3'UTR|ENY2_ENST00000521662.1_Missense_Mutation_p.F89L	NM_001193557.1|NM_020189.5	NP_001180486.1|NP_064574.1	Q9NPA8	ENY2_HUMAN	enhancer of yellow 2 homolog (Drosophila)	94					histone deubiquitination|mRNA transport|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	SAGA complex	ligand-dependent nuclear receptor transcription coactivator activity			endometrium(2)|large_intestine(1)|lung(1)	4	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;9.05e-13)			TAAGAACATTCCTTGCTCAGC	0.328000													39	57					1.02591e-13	1.53939e-13	0.002522	1	0
CCNF	899	broad.mit.edu	37	16	2489405	2489405	+	Nonsense_Mutation	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr16:2489405C>T	ENST00000397066.4	+	7	734	c.646C>T	c.(646-648)Cag>Tag	p.Q216*		NM_001761.2	NP_001752.2	P41002	CCNF_HUMAN	cyclin F	216					cell division|mitosis|negative regulation of centrosome duplication|protein ubiquitination|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	centriole|nucleus|SCF ubiquitin ligase complex	protein binding			breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(2)|lung(5)|prostate(4)|skin(1)	20		Ovarian(90;0.17)				GGCTGCTCATCAGGGATGTCT	0.522000													6	9					0	0	0.001984	0	0
S1PR5	53637	broad.mit.edu	37	19	10625538	10625538	+	Silent	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr19:10625538G>A	ENST00000439028.3	-	2	275	c.150C>T	c.(148-150)atC>atT	p.I50I	S1PR5_ENST00000333430.4_Silent_p.I50I	NM_001166215.1	NP_001159687.1	Q9H228	S1PR5_HUMAN	sphingosine-1-phosphate receptor 5	50						integral to membrane|plasma membrane	lysosphingolipid and lysophosphatidic acid receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	12						TCTCTAGCACGATGAAGGCGC	0.662000													11	6					0	0	0.008291	0	0
MOSPD1	56180	broad.mit.edu	37	X	134025544	134025544	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chrX:134025544C>A	ENST00000370783.3	-	5	761	c.575G>T	c.(574-576)aGt>aTt	p.S192I	MOSPD1_ENST00000370779.4_Intron|MOSPD1_ENST00000370777.1_Missense_Mutation_p.S193I|MOSPD1_ENST00000491609.1_5'UTR	NM_019556.1	NP_062456.1	Q9UJG1	MSPD1_HUMAN	motile sperm domain containing 1	192					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter	integral to membrane|nucleus|perinuclear region of cytoplasm	structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(1)|ovary(1)	9	Acute lymphoblastic leukemia(192;0.000127)					TTGATTCACACTTAAGTGGAG	0.468000													38	98					4.0492e-12	5.79372e-12	0.006999	1	0
LRP1B	53353	broad.mit.edu	37	2	142012104	142012104	+	Silent	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr2:142012104C>A	ENST00000389484.3	-	4	1421	c.450G>T	c.(448-450)ggG>ggT	p.G150G		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	150	EGF-like 1.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TACAGCTTCTCCCATCTTCTG	0.353000										TSP Lung(27;0.18)			20	34					3.8784e-16	6.17814e-16	0.001882	1	0
RNF2	6045	broad.mit.edu	37	1	185068982	185068982	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr1:185068982G>A	ENST00000367510.3	+	6	1085	c.797G>A	c.(796-798)aGg>aAg	p.R266K	RNF2_ENST00000367509.4_Missense_Mutation_p.R194K	NM_007212.3	NP_009143.1	Q99496	RING2_HUMAN	ring finger protein 2	266					histone H2A monoubiquitination|transcription, DNA-dependent	MLL1 complex|PcG protein complex|ubiquitin ligase complex	RING-like zinc finger domain binding|zinc ion binding			breast(3)|endometrium(2)|large_intestine(4)|lung(3)|skin(2)	14		Breast(1374;0.000496)		Colorectal(1306;6.9e-08)|KIRC - Kidney renal clear cell carcinoma(1967;8.12e-06)		CTGGCTGTGAGGTTAGCTTTA	0.363000													19	53					0	0	0.010504	0	0
MRPS35	60488	broad.mit.edu	37	12	27908184	27908184	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr12:27908184C>T	ENST00000081029.3	+	8	844	c.773C>T	c.(772-774)tCa>tTa	p.S258L	MRPS35_ENST00000538315.1_3'UTR	NM_021821.3	NP_068593.2	P82673	RT35_HUMAN	mitochondrial ribosomal protein S35	258					DNA damage response, detection of DNA damage	mitochondrial small ribosomal subunit				breast(1)|endometrium(1)|kidney(1)|lung(2)|urinary_tract(1)	6	Lung SC(9;0.0873)					AATAGCTCATCAGAAAGAAAT	0.333000													16	90					0	0	0.004007	0	0
COL19A1	1310	broad.mit.edu	37	6	70873262	70873262	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr6:70873262G>T	ENST00000322773.4	+	36	2476	c.2374G>T	c.(2374-2376)Ggt>Tgt	p.G792C	COL19A1_ENST00000393344.1_Missense_Mutation_p.G414C	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	792	Triple-helical region 4 (COL4).				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						TGGACATCCTGGTCCCACAGG	0.438000													10	17					6.40141e-05	7.15772e-05	0.000978	1	0
HIST1H2BN	8341	broad.mit.edu	37	6	27806487	27806487	+	Silent	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr6:27806487G>A	ENST00000606613.1	+	1	109	c.48G>A	c.(46-48)aaG>aaA	p.K16K	HIST1H2BN_ENST00000396980.3_Silent_p.K16K			Q99877	H2B1N_HUMAN	histone cluster 1, H2bn	16					nucleosome assembly	nucleosome|nucleus	DNA binding			central_nervous_system(1)|endometrium(3)|lung(3)|prostate(1)	8						AAGGCTCCAAGAAGGCAGTGA	0.562000													30	149					0	0	0.007291	0	0
CLDN18	51208	broad.mit.edu	37	3	137742562	137742562	+	Silent	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr3:137742562C>T	ENST00000183605.5	+	2	509	c.283C>T	c.(283-285)Ctg>Ttg	p.L95L	CLDN18_ENST00000343735.4_Silent_p.L95L	NM_016369.3	NP_057453.1	P56856	CLD18_HUMAN	claudin 18	95					calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity			endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	6						CATTGGCCTCCTGGTATCCAT	0.547000													39	31					0	0	0.005524	0	0
OR4C15	81309	broad.mit.edu	37	11	55322514	55322514	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr11:55322514T>A	ENST00000314644.2	+	1	732	c.732T>A	c.(730-732)gaT>gaA	p.D244E		NM_001001920.1	NP_001001920.1	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C, member 15	190					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						CCTGCACTGATACTCACATCT	0.438000										HNSCC(20;0.049)			11	24					0	0	0.008291	0	0
FNTA	2339	broad.mit.edu	37	8	42940002	42940002	+	Missense_Mutation	SNP	A	A	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr8:42940002A>T	ENST00000529687.1	+	8	1430	c.542A>T	c.(541-543)gAc>gTc	p.D181V	FNTA_ENST00000302279.3_Missense_Mutation_p.D332V|FNTA_ENST00000342116.4_Missense_Mutation_p.D265V			P49354	FNTA_HUMAN	farnesyltransferase, CAAX box, alpha	332					cellular component disassembly involved in apoptosis|positive regulation of deacetylase activity|positive regulation of tubulin deacetylation|protein farnesylation|protein geranylgeranylation|transforming growth factor beta receptor signaling pathway	cytosol|microtubule associated complex	alpha-tubulin binding|CAAX-protein geranylgeranyltransferase activity|microtubule binding|protein farnesyltransferase activity			cervix(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	16	Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184)	all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17)			AATAAGGAAGACATTCTTAAT	0.393000													49	55					0	0	0.003610	0	0
SPOCK3	50859	broad.mit.edu	37	4	167656143	167656143	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr4:167656143C>T	ENST00000357154.3	-	12	1377	c.1240G>A	c.(1240-1242)Gaa>Aaa	p.E414K	SPOCK3_ENST00000357545.4_Missense_Mutation_p.E411K|SPOCK3_ENST00000510741.1_Missense_Mutation_p.E371K|SPOCK3_ENST00000507137.1_5'UTR|SPOCK3_ENST00000512681.1_Missense_Mutation_p.E316K|SPOCK3_ENST00000421836.2_Missense_Mutation_p.E363K|SPOCK3_ENST00000506886.1_Missense_Mutation_p.E414K|SPOCK3_ENST00000511531.1_Missense_Mutation_p.E414K|SPOCK3_ENST00000504953.1_Missense_Mutation_p.E411K|SPOCK3_ENST00000541637.1_Missense_Mutation_p.E316K|SPOCK3_ENST00000511269.1_Missense_Mutation_p.E411K|SPOCK3_ENST00000541354.1_Missense_Mutation_p.E294K|SPOCK3_ENST00000535728.1_Missense_Mutation_p.E282K|SPOCK3_ENST00000502330.1_Missense_Mutation_p.E414K|SPOCK3_ENST00000534949.1_Missense_Mutation_p.E318K	NM_016950.2	NP_058646.2	Q9BQ16	TICN3_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3	414	Asp-rich.				signal transduction	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase inhibitor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	38	all_hematologic(180;0.221)	Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198)		GBM - Glioblastoma multiforme(119;0.02)		tcttcaatttcatcttcatca	0.353000													9	24					0	0	0.004482	0	0
ERCC2	2068	broad.mit.edu	37	19	45858052	45858052	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr19:45858052C>T	ENST00000391945.4	-	17	1678	c.1601G>A	c.(1600-1602)gGc>gAc	p.G534D	ERCC2_ENST00000391944.3_Missense_Mutation_p.G456D	NM_000400.3	NP_000391.1	P18074	ERCC2_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 2	534	Mediates interaction with MMS19.				cell cycle checkpoint|chromosome segregation|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|UV protection|viral reproduction	cytoplasm|holo TFIIH complex|MMXD complex	5'-3' DNA helicase activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding|protein C-terminus binding|protein N-terminus binding			large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|stomach(1)	9		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		GGCCACGATGCCATCAGGGAC	0.627000			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				92	54					0	0	0.003610	0	0
LSS	4047	broad.mit.edu	37	21	47636393	47636393	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr21:47636393G>T	ENST00000397728.3	-	7	771	c.693C>A	c.(691-693)tgC>tgA	p.C231*	LSS_ENST00000457828.2_Nonsense_Mutation_p.C151*|LSS_ENST00000522411.1_Nonsense_Mutation_p.C220*|LSS_ENST00000464357.1_5'UTR|LSS_ENST00000356396.4_Nonsense_Mutation_p.C231*	NM_001145436.1|NM_002340.5	NP_001138908.1|NP_002331.3	P48449	ERG7_HUMAN	lanosterol synthase (2,3-oxidosqualene-lanosterol cyclase)	231					cholesterol biosynthetic process	endoplasmic reticulum membrane	lanosterol synthase activity			cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|skin(1)|urinary_tract(1)	21	Breast(49;0.214)					GCCGGCAGTGGCACCAGAGTG	0.662000													3	16					0.004672	0.00490577	0.004672	1	0
OR10J3	441911	broad.mit.edu	37	1	159284388	159284388	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr1:159284388C>A	ENST00000332217.5	-	1	61	c.62G>T	c.(61-63)aGg>aTg	p.R21M		NM_001004467.1	NP_001004467.1	Q5JRS4	O10J3_HUMAN	olfactory receptor, family 10, subfamily J, member 3	21					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	47	all_hematologic(112;0.0429)					GTGCTGCCGCCTGAAGCTGGA	0.448000													48	102					2.81731e-22	4.99934e-22	0.003610	1	0
TSPYL1	7259	broad.mit.edu	37	6	116600489	116600489	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr6:116600489C>T	ENST00000368608.3	-	1	577	c.505G>A	c.(505-507)Gag>Aag	p.E169K	DSE_ENST00000540275.1_Intron	NM_003309.3	NP_003300.1	Q9H0U9	TSYL1_HUMAN	TSPY-like 1	169					nucleosome assembly	nucleolus				breast(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(3)|urinary_tract(1)	11		all_cancers(87;0.0144)|all_epithelial(87;0.021)|Colorectal(196;0.234)		all cancers(137;0.0235)|OV - Ovarian serous cystadenocarcinoma(136;0.0469)|GBM - Glioblastoma multiforme(226;0.0503)|Epithelial(106;0.094)		CTCTCCCTCTCAGCCACGGCT	0.637000													10	52					0	0	0.000978	0	0
FICD	11153	broad.mit.edu	37	12	108910758	108910758	+	Silent	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr12:108910758C>A	ENST00000552695.1	+	2	244	c.9C>A	c.(7-9)ctC>ctA	p.L3L	FICD_ENST00000361549.2_Silent_p.L3L|FICD_ENST00000552758.1_Silent_p.L3L	NM_007076.2	NP_009007.2	Q9BVA6	FICD_HUMAN	FIC domain containing	3					negative regulation of Rho GTPase activity	integral to membrane	binding|protein adenylyltransferase activity			NS(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(1)|prostate(1)|upper_aerodigestive_tract(2)	15						AGATGATGCTCATACCAATGG	0.592000													16	43					9.16793e-09	1.18634e-08	0.004990	1	0
MFAP3L	9848	broad.mit.edu	37	4	170912639	170912639	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr4:170912639T>A	ENST00000361618.3	-	3	1427	c.1120A>T	c.(1120-1122)Aca>Tca	p.T374S	RP11-6E9.4_ENST00000508955.1_RNA|MFAP3L_ENST00000393704.3_Missense_Mutation_p.T271S	NM_021647.6	NP_067679.6	O75121	MFA3L_HUMAN	microfibrillar-associated protein 3-like	374						integral to membrane|plasma membrane				cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		Prostate(90;0.00601)|Renal(120;0.0183)|all_neural(102;0.122)|Melanoma(52;0.17)		GBM - Glioblastoma multiforme(119;0.0201)|LUSC - Lung squamous cell carcinoma(193;0.116)		TCAACAGGTGTTGGCTCTTCA	0.502000													41	38					0	0	0.007835	0	0
OR4D6	219983	broad.mit.edu	37	11	59224722	59224722	+	Missense_Mutation	SNP	T	T	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr11:59224722T>G	ENST00000300127.2	+	1	312	c.289T>G	c.(289-291)Tgc>Ggc	p.C97G		NM_001004708.1	NP_001004708.1	Q8NGJ1	OR4D6_HUMAN	olfactory receptor, family 4, subfamily D, member 6	97					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	34						CTACAATGACTGCATGGCACA	0.463000													39	101					0	0	0.007835	0	0
MDN1	23195	broad.mit.edu	37	6	90457071	90457071	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr6:90457071C>G	ENST00000369393.3	-	27	3996	c.3881G>C	c.(3880-3882)tGg>tCg	p.W1294S	MDN1_ENST00000428876.1_Missense_Mutation_p.W1294S			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	1294					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		ATGCTGTAGCCAGTCATACTC	0.408000													9	35					0	0	0.000978	0	0
STK36	27148	broad.mit.edu	37	2	219544765	219544765	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr2:219544765G>T	ENST00000295709.3	+	9	1377	c.1098G>T	c.(1096-1098)tgG>tgT	p.W366C	STK36_ENST00000440309.1_Missense_Mutation_p.W366C|STK36_ENST00000392106.2_Missense_Mutation_p.W366C|STK36_ENST00000392105.3_Missense_Mutation_p.W366C	NM_015690.4	NP_056505.2	Q9NRP7	STK36_HUMAN	serine/threonine kinase 36	366					cilium assembly|positive regulation of hh target transcription factor activity|positive regulation of smoothened signaling pathway|post-embryonic development	aggresome|cytoplasm|focal adhesion|intermediate filament cytoskeleton|nucleus	ATP binding|protein serine/threonine kinase activity|transcription factor binding			biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(20)|ovary(4)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	52		Renal(207;0.0915)		Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984)		AGAGCAGCTGGGCTAAATCAG	0.562000													21	89					4.4004e-07	5.31425e-07	0.003330	1	0
OR2G3	81469	broad.mit.edu	37	1	247769203	247769203	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr1:247769203G>T	ENST00000320002.2	+	1	348	c.316G>T	c.(316-318)Gca>Tca	p.A106S	RP11-978I15.10_ENST00000446347.1_RNA|RP11-978I15.10_ENST00000435333.1_RNA	NM_001001914.1	NP_001001914.1	Q8NGZ4	OR2G3_HUMAN	olfactory receptor, family 2, subfamily G, member 3	106					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(31)|skin(5)	50	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			TATTTCTCTGGCACTGGGCTC	0.488000													51	156					1.54886e-18	2.59971e-18	0.003610	1	0
INPP5B	3633	broad.mit.edu	37	1	38397563	38397563	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr1:38397563T>A	ENST00000373023.2	-	7	647	c.554A>T	c.(553-555)aAa>aTa	p.K185I	INPP5B_ENST00000373021.1_Missense_Mutation_p.K185I|INPP5B_ENST00000373024.3_Intron|INPP5B_ENST00000373026.1_Missense_Mutation_p.K185I	NM_005540.2	NP_005531.2	P32019	I5P2_HUMAN	inositol polyphosphate-5-phosphatase, 75kDa	185					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to membrane|microtubule cytoskeleton	GTPase activator activity|inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding			breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(9)|urinary_tract(1)	15	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				TCCCCACCGTTTCTTCCGGGA	0.637000													11	82					0	0	0.002450	0	0
TXNDC16	57544	broad.mit.edu	37	14	52907281	52907281	+	Splice_Site	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr14:52907281C>A	ENST00000281741.4	-	19	2375		c.e19+1		TXNDC16_ENST00000554399.1_Splice_Site	NM_001160047.1|NM_020784.2	NP_001153519.1|NP_065835.2	Q9P2K2	TXD16_HUMAN	thioredoxin domain containing 16						cell redox homeostasis	extracellular region				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(3)|skin(1)	21	Breast(41;0.0716)					CACATACTTACAGATTTAACC	0.294000													5	22					1.23904e-05	1.42053e-05	0.000602	1	0
TGM6	343641	broad.mit.edu	37	20	2375157	2375157	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr20:2375157C>A	ENST00000202625.2	+	2	128	c.67C>A	c.(67-69)Cag>Aag	p.Q23K	TGM6_ENST00000477505.1_3'UTR|TGM6_ENST00000381423.1_Missense_Mutation_p.Q23K	NM_198994.2	NP_945345.2	O95932	TGM3L_HUMAN	transglutaminase 6	23					cell death|peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52					L-Glutamine(DB00130)	CCACCACACCCAGGAGTACCC	0.642000													8	16					0.000274275	0.00029951	0.004482	1	0
H2BFWT	158983	broad.mit.edu	37	X	103268102	103268102	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chrX:103268102G>C	ENST00000217926.5	-	1	157	c.131C>G	c.(130-132)aCc>aGc	p.T44S		NM_001002916.3	NP_001002916.2	Q7Z2G1	H2BWT_HUMAN	H2B histone family, member W, testis-specific	44					nucleosome assembly	nuclear membrane|nucleosome	DNA binding			breast(2)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	16						GGGCTCCTGGGTGATCAGCTG	0.627000													14	23					0	0	0.002450	0	0
CSPG4	1464	broad.mit.edu	37	15	75981642	75981642	+	Silent	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr15:75981642C>T	ENST00000308508.5	-	3	1856	c.1764G>A	c.(1762-1764)gaG>gaA	p.E588E		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	588	Globular or compact configuration stabilized by disulfide bonds.|Interaction with COL6A2 (By similarity).|Neurite growth inhibition (By similarity).				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						AGGTGAGGCCCTCACAGGCAG	0.652000													3	23					0	0	0.004672	0	0
POM121C	100101267	broad.mit.edu	37	7	75051125	75051125	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr7:75051125C>G	ENST00000453279.2	-	13	3274	c.2410G>C	c.(2410-2412)Ggt>Cgt	p.G804R	POM121C_ENST00000257665.5_Missense_Mutation_p.G1046R	NM_001099415.1	NP_001092885.1	A8CG34	P121C_HUMAN	POM121 transmembrane nucleoporin C	1046	Pore side (Potential).|Thr-rich.				mRNA transport|protein transport|transmembrane transport	endoplasmic reticulum membrane|nuclear membrane|nuclear pore	protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14						GTGGCTGCACCGAAGGAGAAG	0.647000													8	56					0	0	0.000978	0	0
OR13A1	79290	broad.mit.edu	37	10	45799695	45799695	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr10:45799695C>A	ENST00000553795.1	-	4	484	c.176G>T	c.(175-177)gGt>gTt	p.G59V	OR13A1_ENST00000536058.1_Missense_Mutation_p.G59V|OR13A1_ENST00000374401.2_Missense_Mutation_p.G59V	NM_001004297.2	NP_001004297.2	Q8NGR1	O13A1_HUMAN	olfactory receptor, family 13, subfamily A, member 1	59					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(2)|urinary_tract(1)	19						GAGGACATTACCTGTGAGGGC	0.502000													11	30					2.27111e-07	2.77282e-07	0.001368	1	0
KCNH5	27133	broad.mit.edu	37	14	63417143	63417143	+	Silent	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr14:63417143C>T	ENST00000322893.7	-	7	1345	c.1077G>A	c.(1075-1077)gtG>gtA	p.V359V	KCNH5_ENST00000394968.1_Silent_p.V301V|KCNH5_ENST00000420622.2_Silent_p.V359V|KCNH5_ENST00000394964.2_Silent_p.V301V	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	359					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		GCCAGTGGGCCACCAGTCCAA	0.527000													16	47					0	0	0.006122	0	0
LCT	3938	broad.mit.edu	37	2	136575090	136575090	+	Missense_Mutation	SNP	A	A	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr2:136575090A>T	ENST00000264162.2	-	6	1538	c.1528T>A	c.(1528-1530)Tgg>Agg	p.W510R		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	510	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		TCATTCTGCCATCCACCATGA	0.587000													12	36					0	0	0.001368	0	0
RYR2	6262	broad.mit.edu	37	1	237947958	237947958	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr1:237947958G>T	ENST00000366574.2	+	90	13263	c.12946G>T	c.(12946-12948)Gga>Tga	p.G4316*	RYR2_ENST00000360064.6_Nonsense_Mutation_p.G4322*|RYR2_ENST00000542537.1_Nonsense_Mutation_p.G4300*	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4316					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GCTGCTTGGGGGAAGCCTCGT	0.507000													25	43					2.21704e-12	3.18795e-12	0.002780	1	0
DCAF12L1	139170	broad.mit.edu	37	X	125686465	125686465	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chrX:125686465T>A	ENST00000371126.1	-	1	369	c.127A>T	c.(127-129)Agg>Tgg	p.R43W		NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	43										breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						GCCGGCCGCCTCTGCCTCTTG	0.711000													11	49					0	0	0.002450	0	0
KRT84	3890	broad.mit.edu	37	12	52777468	52777468	+	Silent	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr12:52777468G>A	ENST00000257951.3	-	2	727	c.661C>T	c.(661-663)Ctg>Ttg	p.L221L	RP3-416H24.4_ENST00000547174.1_RNA	NM_033045.3	NP_149034.2	Q9NSB2	KRT84_HUMAN	keratin 84	221	Coil 1B.|Rod.					keratin filament	structural constituent of epidermis			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(10)|skin(3)	27	all_hematologic(5;0.12)			BRCA - Breast invasive adenocarcinoma(357;0.189)		TGCCTCCGCAGGTTGGTGATG	0.547000													25	42					0	0	0.006320	0	0
SDE2	163859	broad.mit.edu	37	1	226175779	226175779	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr1:226175779C>A	ENST00000272091.7	-	6	970	c.952G>T	c.(952-954)Gag>Tag	p.E318*	SDE2_ENST00000366817.1_Nonsense_Mutation_p.E223*	NM_152608.3	NP_689821.3			SDE2 telomere maintenance homolog (S. pombe)																		TCCTGGGTCTCTTCTGTTTCT	0.498000													31	93					1.99505e-19	3.39863e-19	0.002445	1	0
C1orf95	375057	broad.mit.edu	37	1	226784513	226784513	+	Silent	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr1:226784513C>A	ENST00000366789.4	+	2	318	c.213C>A	c.(211-213)gtC>gtA	p.V71V	C1orf95_ENST00000366788.3_Silent_p.V71V			Q69YW2	CA095_HUMAN	chromosome 1 open reading frame 95	71						integral to membrane				large_intestine(1)|lung(4)|ovary(3)	8	Breast(184;0.133)	Prostate(94;0.0885)		GBM - Glioblastoma multiforme(131;0.113)		GGACATTCGTCTCGGCCTTCA	0.627000													23	76					2.41591e-17	3.93061e-17	0.004656	1	0
PTGIS	5740	broad.mit.edu	37	20	48129705	48129705	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr20:48129705C>T	ENST00000244043.4	-	8	1147	c.1118G>A	c.(1117-1119)cGa>cAa	p.R373Q	PTGIS_ENST00000478971.1_5'UTR	NM_000961.3	NP_000952.1	Q16647	PTGIS_HUMAN	prostaglandin I2 (prostacyclin) synthase	373					hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|prostaglandin-I synthase activity			endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|ovary(3)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	27			BRCA - Breast invasive adenocarcinoma(12;2.37e-05)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		Phenylbutazone(DB00812)	GTTGAATTCTCGCCCGTCTGC	0.602000													33	92					0	0	0.003271	0	0
SCYL2	55681	broad.mit.edu	37	12	100731216	100731216	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr12:100731216G>T	ENST00000360820.2	+	17	2514	c.2077G>T	c.(2077-2079)Gca>Tca	p.A693S		NM_017988.4	NP_060458.3	Q6P3W7	SCYL2_HUMAN	SCY1-like 2 (S. cerevisiae)	693					endosome to lysosome transport|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of clathrin-mediated endocytosis|positive regulation of receptor internalization	clathrin-coated vesicle|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|protein kinase activity|receptor binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(4)|lung(15)|ovary(2)|skin(1)	41						ACAAGAGCAGGCACAGAAGCT	0.373000													58	29					7.92265e-33	1.49961e-32	0.003610	1	0
CTSG	1511	broad.mit.edu	37	14	25042851	25042851	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr14:25042851G>T	ENST00000216336.2	-	5	796	c.760C>A	c.(760-762)Ccc>Acc	p.P254T		NM_001911.2	NP_001902.1	P08311	CATG_HUMAN	cathepsin G	254					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)		AGTCACAGGGGGGTCTCCATC	0.498000													57	190					8.77104e-35	1.66892e-34	0.003610	1	0
CACNA1D	776	broad.mit.edu	37	3	53699724	53699724	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr3:53699724G>T	ENST00000288139.3	+	6	922	c.804G>T	c.(802-804)atG>atT	p.M268I	CACNA1D_ENST00000350061.5_Missense_Mutation_p.M268I|CACNA1D_ENST00000422281.2_Missense_Mutation_p.M268I	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	268					axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	TAAAAGCCATGGTTCCCCTCC	0.333000													34	31					9.8876e-21	1.71876e-20	0.004878	1	0
NID1	4811	broad.mit.edu	37	1	236205413	236205413	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr1:236205413G>A	ENST00000264187.6	-	4	1014	c.932C>T	c.(931-933)aCg>aTg	p.T311M	NID1_ENST00000366595.3_Missense_Mutation_p.T311M	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	311					cell-matrix adhesion	basement membrane	calcium ion binding			breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Becaplermin(DB00102)|Urokinase(DB00013)	GGAGAAGGGCGTGGTGCCCAC	0.597000													65	54					0	0	0.003610	0	0
SPNS2	124976	broad.mit.edu	37	17	4436619	4436619	+	Silent	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr17:4436619G>A	ENST00000329078.3	+	8	1380	c.1170G>A	c.(1168-1170)ctG>ctA	p.L390L		NM_001124758.1	NP_001118230.1	Q8IVW8	SPNS2_HUMAN	spinster homolog 2 (Drosophila)	390					lipid transport|transmembrane transport	integral to membrane				large_intestine(3)|lung(1)|prostate(1)|skin(1)	6						GGTGCCGCCTGAAGACCCAGC	0.637000													5	24					0	0	0.001168	0	0
GPR137B	7107	broad.mit.edu	37	1	236306325	236306325	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr1:236306325T>A	ENST00000366592.3	+	1	494	c.403T>A	c.(403-405)Tac>Aac	p.Y135N	GPR137B_ENST00000366591.4_Missense_Mutation_p.Y135N	NM_003272.3	NP_003263.1	O60478	G137B_HUMAN	G protein-coupled receptor 137B	135						integral to plasma membrane|membrane fraction				endometrium(2)|large_intestine(1)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.197)|Prostate(94;0.219)|Acute lymphoblastic leukemia(190;0.226)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)			GATGAACTTGTACTTCACGCA	0.647000													10	82					0	0	0.000978	0	0
CCKBR	887	broad.mit.edu	37	11	6292659	6292659	+	Silent	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr11:6292659C>A	ENST00000525462.1	+	4	1440	c.1437C>A	c.(1435-1437)ccC>ccA	p.P479P	CCKBR_ENST00000334619.2_Silent_p.P410P|CCKBR_ENST00000532715.1_Silent_p.P326P			P32239	GASR_HUMAN	cholecystokinin B receptor	410					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cell proliferation|digestion|elevation of cytosolic calcium ion concentration|feeding behavior|positive regulation of cell proliferation|sensory perception		1-phosphatidylinositol-3-kinase regulator activity|gastrin receptor activity|phosphatidylinositol phospholipase C activity|type B gastrin/cholecystokinin receptor binding			NS(2)|breast(2)|endometrium(4)|kidney(13)|large_intestine(10)|lung(22)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	Pentagastrin(DB00183)	GCTGCTGCCCCCGGCCTCCAC	0.642000													21	48					4.35082e-09	5.6859e-09	0.010504	1	0
UBA6	55236	broad.mit.edu	37	4	68504713	68504713	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr4:68504713C>A	ENST00000322244.4	-	19	1743	c.1684G>T	c.(1684-1686)Gat>Tat	p.D562Y		NM_018227.5	NP_060697.4	A0AVT1	UBA6_HUMAN	ubiquitin-like modifier activating enzyme 6	562					protein ubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm	ATP binding|FAT10 activating enzyme activity|ligase activity|protein binding			central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(6)|liver(1)|lung(23)|skin(2)|upper_aerodigestive_tract(2)	44						ATAATTACATCTTGTTTAGTA	0.333000													27	50					9.80776e-20	1.67472e-19	0.006320	1	0
HRNR	388697	broad.mit.edu	37	1	152191918	152191918	+	Missense_Mutation	SNP	G	G	T	rs146453724	byFrequency	TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr1:152191918G>T	ENST00000368801.2	-	3	2262	c.2187C>A	c.(2185-2187)caC>caA	p.H729Q	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	729					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ACCTAGAGCCGTGTTTTCTGT	0.537000													95	161					3.07327e-39	5.93346e-39	0.003610	1	0
PLEKHG3	26030	broad.mit.edu	37	14	65198849	65198849	+	Missense_Mutation	SNP	C	C	T	rs142732386	byFrequency	TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr14:65198849C>T	ENST00000247226.7	+	8	1302	c.994C>T	c.(994-996)Cac>Tac	p.H332Y	PLEKHG3_ENST00000394691.1_Missense_Mutation_p.H388Y	NM_015549.1	NP_056364.1	A1L390	PKHG3_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 3	388	PH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2)	29				all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)		CTGGACTCACCACATCAAGAG	0.547000													11	28					0	0	0.000978	0	0
RDH8	50700	broad.mit.edu	37	19	10132014	10132014	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr19:10132014G>A	ENST00000591589.1	+	5	869	c.680G>A	c.(679-681)gGc>gAc	p.G227D	RDH8_ENST00000171214.1_Missense_Mutation_p.G207D			Q9NYR8	RDH8_HUMAN	retinol dehydrogenase 8 (all-trans)	207					estrogen biosynthetic process|response to stimulus|visual perception	cytoplasm|integral to plasma membrane	binding|estradiol 17-beta-dehydrogenase activity|NADP-retinol dehydrogenase activity|retinol dehydrogenase activity			endometrium(3)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|prostate(1)	21			Epithelial(33;4.24e-05)		Vitamin A(DB00162)	GAGTTCCCAGGCACTGACCCT	0.612000													57	23					0	0	0.003610	0	0
KANK4	163782	broad.mit.edu	37	1	62732417	62732417	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr1:62732417G>T	ENST00000371153.4	-	6	2684	c.2306C>A	c.(2305-2307)aCa>aAa	p.T769K	KANK4_ENST00000354381.3_Missense_Mutation_p.T141K|KANK4_ENST00000371150.1_Missense_Mutation_p.T125K	NM_181712.4	NP_859063.3	Q5T7N3	KANK4_HUMAN	KN motif and ankyrin repeat domains 4	769										NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						GAGCTGGTCTGTGGTGGTCCC	0.423000													26	50					2.61193e-14	3.98113e-14	0.009535	1	0
PKD1L1	168507	broad.mit.edu	37	7	47852827	47852827	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr7:47852827C>A	ENST00000289672.2	-	49	7288	c.7238G>T	c.(7237-7239)gGc>gTc	p.G2413V	C7orf69_ENST00000258776.4_Intron|C7orf69_ENST00000418326.2_Intron	NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	2413					cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						GTTCTCAGGGCCTCCAACTTC	0.547000													37	26					1.30998e-17	2.14819e-17	0.005524	1	0
ZNF644	84146	broad.mit.edu	37	1	91403085	91403085	+	Silent	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr1:91403085C>A	ENST00000370440.1	-	4	3862	c.3645G>T	c.(3643-3645)ccG>ccT	p.P1215P	ZNF644_ENST00000361321.5_Intron|ZNF644_ENST00000467231.1_Intron|ZNF644_ENST00000337393.5_Silent_p.P1215P|ZNF644_ENST00000347275.5_Intron			Q9H582	ZN644_HUMAN	zinc finger protein 644	1215					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	47		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		GATACATCAACGGACTATCCT	0.373000													22	52					2.39556e-15	3.73388e-15	0.002780	1	0
DSC2	1824	broad.mit.edu	37	18	28667691	28667691	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr18:28667691T>A	ENST00000280904.6	-	6	1159	c.716A>T	c.(715-717)aAc>aTc	p.N239I	DSC2_ENST00000251081.6_Missense_Mutation_p.N239I	NM_024422.3	NP_077740.1	Q02487	DSC2_HUMAN	desmocollin 2	239	Cadherin 1.				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			AATTGGGTAGTTATCATTTTC	0.343000													29	61					0	0	0.006320	0	0
SYNE1	23345	broad.mit.edu	37	6	152949440	152949440	+	Silent	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr6:152949440C>A	ENST00000367255.5	-	3	628	c.27G>T	c.(25-27)cgG>cgT	p.R9R	SYNE1_ENST00000341594.5_Silent_p.R9R|SYNE1_ENST00000423061.1_Silent_p.R9R|SYNE1_ENST00000466159.2_Silent_p.R9R|SYNE1_ENST00000265368.4_Silent_p.R9R|SYNE1_ENST00000367253.4_Silent_p.R9R|SYNE1_ENST00000448038.1_Silent_p.R9R|SYNE1_ENST00000367248.3_Silent_p.R9R|SYNE1_ENST00000413186.2_Silent_p.R9R	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	9	Actin-binding.				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CCCGAGGACACCGGGAGGCCC	0.517000										HNSCC(10;0.0054)			29	74					5.6714e-07	6.82643e-07	0.002096	1	0
ABCB1	5243	broad.mit.edu	37	7	87148649	87148649	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr7:87148649C>A	ENST00000265724.3	-	24	3337	c.2920G>T	c.(2920-2922)Gtt>Ttt	p.V974F	ABCB1_ENST00000488737.2_5'UTR|ABCB1_ENST00000543898.1_Missense_Mutation_p.V910F	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	974	ABC transmembrane type-1 2.				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	TACAACAGAACATCCTCAAAG	0.403000													21	26					7.45023e-12	1.05764e-11	0.010504	1	0
TTN	7273	broad.mit.edu	37	2	179574576	179574576	+	Silent	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr2:179574576G>A	ENST00000589042.1	-	99	28694	c.28470C>T	c.(28468-28470)ctC>ctT	p.L9490L	TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Silent_p.L8246L|TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Silent_p.L9173L|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000431752.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	9173							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTGGTGGGATGAGCCGCTCTA	0.373000													20	69					0	0	0.001882	0	0
FAM47C	442444	broad.mit.edu	37	X	37027912	37027912	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chrX:37027912G>T	ENST00000358047.3	+	1	1481	c.1429G>T	c.(1429-1431)Gag>Tag	p.E477*		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	477										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						TCTCTGCCCGGAGCCTCCAGA	0.617000													27	76					4.59853e-10	6.14268e-10	0.005443	1	0
PCDHA5	56143	broad.mit.edu	37	5	140202807	140202807	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr5:140202807G>C	ENST00000529859.1	+	1	1447	c.1447G>C	c.(1447-1449)Gcg>Ccg	p.A483P	PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000378126.3_Missense_Mutation_p.A483P|PCDHA5_ENST00000529619.1_Missense_Mutation_p.A483P	NM_018908.2	NP_061731.1														NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGACGCGGACGCGCAGGAGAA	0.667000													12	56					0	0	0.001855	0	0
FAM71D	161142	broad.mit.edu	37	14	67664975	67664975	+	Missense_Mutation	SNP	T	T	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr14:67664975T>G	ENST00000556046.1	+	3	321	c.97T>G	c.(97-99)Ttg>Gtg	p.L33V				Q8N9W8	FA71D_HUMAN	family with sequence similarity 71, member D	33										breast(1)|endometrium(1)|large_intestine(1)|lung(9)|ovary(1)	13		all_hematologic(31;0.0116)		all cancers(60;0.00107)|BRCA - Breast invasive adenocarcinoma(234;0.00993)|OV - Ovarian serous cystadenocarcinoma(108;0.012)		TCAAAATATGTTGGATGGAGG	0.433000													16	62					0	0	0.004990	0	0
ATP7B	540	broad.mit.edu	37	13	52513223	52513223	+	Silent	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr13:52513223C>A	ENST00000242839.4	-	17	3819	c.3663G>T	c.(3661-3663)ggG>ggT	p.G1221G	ATP7B_ENST00000344297.5_Silent_p.G1014G|ATP7B_ENST00000417240.2_Silent_p.G432G|ATP7B_ENST00000448424.2_Silent_p.G1143G|ATP7B_ENST00000418097.2_Silent_p.G1156G|ATP7B_ENST00000400366.3_Silent_p.G1110G|ATP7B_ENST00000400370.3_Silent_p.G791G	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	1221			G -> E (in WD).		ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)		TCCGGTTGTCCCCCGTGATCA	0.532000									Wilson disease				36	24					3.78316e-11	5.24714e-11	0.006230	1	0
NXF4	55999	broad.mit.edu	37	X	101818974	101818974	+	RNA	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chrX:101818974G>T	ENST00000360035.2	+	0	1258					NR_002216.1															endometrium(2)|lung(8)	10						GCCTATGTAAGGTCAGTGGCA	0.562000													10	17					7.48243e-07	8.96159e-07	0.006214	1	0
ABCB11	8647	broad.mit.edu	37	2	169824975	169824975	+	Silent	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr2:169824975C>T	ENST00000263817.6	-	17	2161	c.2037G>A	c.(2035-2037)gcG>gcA	p.A679A		NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 11	679					bile acid biosynthetic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)	TAAAGGTCCTCGCAAGCATGT	0.398000													11	10					0	0	0.001368	0	0
KRT72	140807	broad.mit.edu	37	12	52985332	52985332	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr12:52985332G>C	ENST00000293745.2	-	5	964	c.879C>G	c.(877-879)gaC>gaG	p.D293E	KRT72_ENST00000354310.4_Missense_Mutation_p.D293E|KRT72_ENST00000398066.3_Missense_Mutation_p.D105E|KRT72_ENST00000537672.2_Missense_Mutation_p.D293E	NM_080747.2	NP_542785.1	Q14CN4	K2C72_HUMAN	keratin 72	293	Linker 12.|Rod.					keratin filament	structural molecule activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(357;0.195)		CAATGATGCTGTCCAGGTCCA	0.597000													30	46					0	0	0.007291	0	0
OR2T27	403239	broad.mit.edu	37	1	248813466	248813466	+	Silent	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr1:248813466G>T	ENST00000344889.3	-	1	719	c.720C>A	c.(718-720)acC>acA	p.T240T		NM_001001824.1	NP_001001824.1	Q8NH04	O2T27_HUMAN	olfactory receptor, family 2, subfamily T, member 27	240					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(2)|large_intestine(4)|lung(20)|skin(3)|stomach(1)	32	all_cancers(71;1.15e-05)|all_epithelial(71;5.29e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.089)|Lung NSC(105;0.0969)|Melanoma(84;0.199)	all_cancers(173;0.237)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GTGAGGAGCAGGTGGCCACAG	0.527000													10	13					1.08611e-07	1.34879e-07	0.000978	1	0
OR2W5	441932	broad.mit.edu	37	1	247654766	247654766	+	RNA	SNP	G	G	T	rs145704231		TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr1:247654766G>T	ENST00000522351.1	+	0	397							A6NFC9	OR2W5_HUMAN							sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(24)|ovary(1)|skin(4)	39	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.222)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			CACCGAGTGCGTCCTCCTGGT	0.602000													56	46					1.74971e-23	3.15515e-23	0.003610	1	0
SKAP2	8935	broad.mit.edu	37	7	26765118	26765118	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr7:26765118T>A	ENST00000345317.2	-	9	1038	c.725A>T	c.(724-726)cAt>cTt	p.H242L	SKAP2_ENST00000539623.1_Missense_Mutation_p.H70L|SKAP2_ENST00000489977.1_5'UTR	NM_003930.3	NP_003921.2	O75563	SKAP2_HUMAN	src kinase associated phosphoprotein 2	242					B cell activation|cell junction assembly|protein complex assembly|signal transduction	cytosol|plasma membrane	SH3/SH2 adaptor activity			haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|skin(3)	17						TGGTAGAGGATGATCAACATC	0.303000													33	25					0	0	0.003271	0	0
HMCN1	83872	broad.mit.edu	37	1	185931747	185931747	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr1:185931747G>C	ENST00000271588.4	+	12	2155	c.1926G>C	c.(1924-1926)aaG>aaC	p.K642N	HMCN1_ENST00000367492.2_Missense_Mutation_p.K642N|HMCN1_ENST00000485744.1_3'UTR	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	642	Ig-like C2-type 3.				response to stimulus|visual perception	basement membrane	calcium ion binding	p.K642N(1)		NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CCAAACCAAAGATTGCCTGGA	0.428000													14	93					0	0	0.004990	0	0
PDE1A	5136	broad.mit.edu	37	2	183011820	183011820	+	Nonsense_Mutation	SNP	C	C	A	rs144375935		TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr2:183011820C>A	ENST00000435564.1	-	14	1824	c.1624G>T	c.(1624-1626)Gag>Tag	p.E542*	PDE1A_ENST00000331935.6_Nonsense_Mutation_p.E542*|PDE1A_ENST00000346717.4_Nonsense_Mutation_p.E508*|PDE1A_ENST00000409365.1_Nonsense_Mutation_p.E526*|PDE1A_ENST00000536095.1_Nonsense_Mutation_p.E438*	NM_001258312.1|NM_005019.4	NP_001245241.1|NP_005010.2	P54750	PDE1A_HUMAN	phosphodiesterase 1A, calmodulin-dependent	0					activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2)	35			OV - Ovarian serous cystadenocarcinoma(117;0.061)			GAATGTGTCTCATCATGTTTT	0.294000													32	57					6.97489e-18	1.15293e-17	0.004878	1	0
SNTG1	54212	broad.mit.edu	37	8	51569499	51569499	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr8:51569499G>T	ENST00000522124.1	+	14	1541	c.880G>T	c.(880-882)Gag>Tag	p.E294*	SNTG1_ENST00000517473.1_Nonsense_Mutation_p.E294*|SNTG1_ENST00000276467.5_Nonsense_Mutation_p.E294*|SNTG1_ENST00000518864.1_Nonsense_Mutation_p.E294*	NM_018967.2	NP_061840.1	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	294	PH.				cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				TGAAGCCCGGGAGCAAGACCC	0.443000													37	168					1.47197e-15	2.30672e-15	0.007835	1	0
TFF2	7032	broad.mit.edu	37	21	43767673	43767673	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr21:43767673C>T	ENST00000291526.4	-	3	468	c.298G>A	c.(298-300)Gaa>Aaa	p.E100K	TFF2_ENST00000475297.1_5'UTR	NM_005423.4	NP_005414.1	Q03403	TFF2_HUMAN	trefoil factor 2	100	P-type 2.				digestion	extracellular region				large_intestine(1)|pancreas(1)|urinary_tract(1)	3						GAGGCGCATTCCTCGGGGCTG	0.582000													15	22					0	0	0.003163	0	0
POMP	51371	broad.mit.edu	37	13	29252222	29252222	+	Missense_Mutation	SNP	A	A	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr13:29252222A>G	ENST00000380842.4	+	6	490	c.409A>G	c.(409-411)Aaa>Gaa	p.K137E	POMP_ENST00000460403.1_3'UTR	NM_015932.5	NP_057016.1	Q9Y244	POMP_HUMAN	proteasome maturation protein	137					proteasome assembly	cytosol|endoplasmic reticulum|membrane|microsome|nucleus|proteasome complex				endometrium(2)|kidney(1)|large_intestine(1)	4		Lung SC(185;0.0367)		all cancers(112;0.141)|OV - Ovarian serous cystadenocarcinoma(117;0.216)		GGTGGAATATAAACTTGGTTT	0.353000													38	26					0	0	0.009718	0	0
SLC7A9	11136	broad.mit.edu	37	19	33353074	33353074	+	Silent	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr19:33353074C>A	ENST00000023064.4	-	6	845	c.654G>T	c.(652-654)gtG>gtT	p.V218V	SLC7A9_ENST00000590341.1_Silent_p.V218V|SLC7A9_ENST00000587772.1_Silent_p.V218V	NM_001126335.1|NM_001243036.1|NM_014270.4	NP_001119807.1|NP_001229965.1|NP_055085.1	P82251	BAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, bo,+ system), member 9	218					blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	integral to plasma membrane	L-cystine transmembrane transporter activity|neutral amino acid transmembrane transporter activity|peptide antigen binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32	Esophageal squamous(110;0.137)				L-Cystine(DB00138)	TGATGGCTCCCACAGACAGCT	0.542000													16	50					4.14922e-12	5.91345e-12	0.004007	1	0
TG	7038	broad.mit.edu	37	8	133912572	133912572	+	Missense_Mutation	SNP	A	A	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr8:133912572A>T	ENST00000220616.4	+	15	3461	c.3421A>T	c.(3421-3423)Agc>Tgc	p.S1141C	TG_ENST00000377869.1_Missense_Mutation_p.S1141C	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1141	Thyroglobulin type-1 9.				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		TGGCTCGAGCAGCAGTGCCCA	0.617000													9	7					0	0	0.004482	0	0
TBX18	9096	broad.mit.edu	37	6	85447030	85447030	+	Silent	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr6:85447030G>T	ENST00000369663.5	-	8	1534	c.1197C>A	c.(1195-1197)gcC>gcA	p.A399A	TBX18_ENST00000606784.1_Intron	NM_001080508.1	NP_001073977.1	O95935	TBX18_HUMAN	T-box 18	399					multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3)	61		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)		BRCA - Breast invasive adenocarcinoma(108;0.0267)		CCAGATGGAAGGCAGGAGAGG	0.582000													11	28					0.000151284	0.000166966	0.001855	1	0
PPP1R21	129285	broad.mit.edu	37	2	48725686	48725686	+	Missense_Mutation	SNP	A	A	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr2:48725686A>G	ENST00000294952.8	+	17	1904	c.1747A>G	c.(1747-1749)Atg>Gtg	p.M583V	PPP1R21_ENST00000449090.2_Missense_Mutation_p.M552V|PPP1R21_ENST00000281394.4_Missense_Mutation_p.M583V	NM_001135629.2	NP_001129101.1	Q6ZMI0	KLRAQ_HUMAN	protein phosphatase 1, regulatory subunit 21	583										endometrium(2)|kidney(4)|lung(9)	15						AGAACATTGGATGTTGGAAGC	0.398000													8	35					0	0	0.003080	0	0
CD86	942	broad.mit.edu	37	3	121822406	121822406	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr3:121822406C>A	ENST00000330540.2	+	3	228	c.112C>A	c.(112-114)Ctg>Atg	p.L38M	CD86_ENST00000393627.2_Missense_Mutation_p.L32M|CD86_ENST00000483949.1_3'UTR|CD86_ENST00000469710.1_5'UTR|CD86_ENST00000493101.1_Intron|CD86_ENST00000264468.5_Intron	NM_175862.4	NP_787058.4	P42081	CD86_HUMAN	CD86 molecule	38	Ig-like V-type.				interspecies interaction between organisms|positive regulation of cell proliferation|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of lymphotoxin A biosynthetic process|positive regulation of T-helper 2 cell differentiation|positive regulation of transcription, DNA-dependent|T cell costimulation		coreceptor activity|protein binding			breast(2)|endometrium(1)|kidney(1)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	23				GBM - Glioblastoma multiforme(114;0.156)	Abatacept(DB01281)	GACTGCAGACCTGCCATGCCA	0.428000													11	60					6.40141e-05	7.15772e-05	0.000978	1	0
OR5L1	219437	broad.mit.edu	37	11	55578989	55578989	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr11:55578989G>T	ENST00000333973.2	+	1	136	c.47G>T	c.(46-48)gGa>gTa	p.G16V		NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L, member 1	16					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G16V(1)		NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				ATTCTCCTTGGACTATCAGAT	0.433000													33	129					9.14704e-12	1.29598e-11	0.008740	1	0
KCNK9	51305	broad.mit.edu	37	8	140631244	140631244	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr8:140631244G>T	ENST00000520439.1	-	2	445	c.382C>A	c.(382-384)Ctg>Atg	p.L128M	KCNK9_ENST00000303015.1_Missense_Mutation_p.L128M			Q9NPC2	KCNK9_HUMAN	potassium channel, subfamily K, member 9	128						integral to membrane|membrane fraction	potassium channel activity|voltage-gated ion channel activity			NS(1)|endometrium(9)|kidney(1)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)	43	all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;0.134)	BRCA - Breast invasive adenocarcinoma(115;0.0855)			CGCTCGCCCAGGCTCTGGAAC	0.587000													11	19					2.80697e-09	3.68495e-09	0.000978	1	0
PNLIPRP3	119548	broad.mit.edu	37	10	118220478	118220478	+	Splice_Site	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr10:118220478G>T	ENST00000369230.3	+	6	712	c.565_splice	c.e6-1	p.G189_splice		NM_001011709.2	NP_001011709.2	Q17RR3	LIPR3_HUMAN	pancreatic lipase-related protein 3	189					lipid catabolic process	extracellular region	triglyceride lipase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(29)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50				all cancers(201;0.0131)		CTTTCTCTAGGGTTGGACCCA	0.423000													14	29					1.5842e-08	2.03002e-08	0.001855	1	0
COL12A1	1303	broad.mit.edu	37	6	75818746	75818746	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr6:75818746C>A	ENST00000322507.8	-	52	8397	c.8088G>T	c.(8086-8088)agG>agT	p.R2696S	COL12A1_ENST00000345356.6_Missense_Mutation_p.R1532S|COL12A1_ENST00000483888.2_Missense_Mutation_p.R2696S|COL12A1_ENST00000416123.2_Intron	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	2696	Nonhelical region (NC3).|TSP N-terminal.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						CGGCTGATTTCCTTTCCCCTT	0.323000													25	48					8.58068e-18	1.41352e-17	0.007291	1	0
RNPEP	6051	broad.mit.edu	37	1	201969078	201969078	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr1:201969078G>C	ENST00000295640.4	+	6	1182	c.1139G>C	c.(1138-1140)cGt>cCt	p.R380P	RNPEP_ENST00000471105.1_3'UTR|RNPEP_ENST00000367286.3_Missense_Mutation_p.R341P	NM_020216.3	NP_064601.3	Q9H4A4	AMPB_HUMAN	arginyl aminopeptidase (aminopeptidase B)	380					leukotriene biosynthetic process		epoxide hydrolase activity|zinc ion binding			breast(1)|endometrium(4)|large_intestine(4)|lung(6)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21				KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|Colorectal(1306;0.005)		GCTCTGCTGCGTCAGCACATG	0.582000											OREG0014093	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	25					0	0	0.000602	0	0
SLC25A53	401612	broad.mit.edu	37	X	103349078	103349078	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chrX:103349078G>A	ENST00000357421.4	-	2	1043	c.863C>T	c.(862-864)aCg>aTg	p.T288M		NM_001012755.3	NP_001012773.2	Q5H9E4	MCAR6_HUMAN	solute carrier family 25, member 53	288					transport	integral to membrane|mitochondrial inner membrane											ATGGATTGCCGTAGTGAGGCC	0.532000													11	23					0	0	0.000978	0	0
ZNF33A	7581	broad.mit.edu	37	10	38305835	38305835	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr10:38305835G>T	ENST00000374618.3	+	3	224	c.46G>T	c.(46-48)Gat>Tat	p.D16Y	ZNF33A_ENST00000307441.9_Missense_Mutation_p.D16Y|ZNF33A_ENST00000458705.2_Missense_Mutation_p.D16Y|ZNF33A_ENST00000476504.1_3'UTR|ZNF33A_ENST00000469037.2_Missense_Mutation_p.D16Y|ZNF33A_ENST00000432900.2_Missense_Mutation_p.D23Y	NM_001278170.1|NM_001278171.1|NM_001278173.1|NM_001278174.1|NM_001278175.1|NM_001278176.1|NM_001278177.1|NM_001278178.1|NM_001278179.1|NM_006954.1|NM_006974.2	NP_001265099.1|NP_001265100.1|NP_001265102.1|NP_001265103.1|NP_001265104.1|NP_001265105.1|NP_001265106.1|NP_001265107.1|NP_001265108.1|NP_008885.1|NP_008905.1	Q06730	ZN33A_HUMAN	zinc finger protein 33A	16	KRAB.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(2)|endometrium(2)|large_intestine(8)|liver(2)|lung(27)|ovary(2)|prostate(1)|skin(2)	46						ATCATTTAAAGATGTGACTGT	0.453000													30	21					2.85442e-18	4.76174e-18	0.002096	1	0
PREPL	9581	broad.mit.edu	37	2	44565657	44565657	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr2:44565657C>T	ENST00000541738.1	-	7	1107	c.721G>A	c.(721-723)Gat>Aat	p.D241N	PREPL_ENST00000260648.6_Missense_Mutation_p.D330N|PREPL_ENST00000409936.1_Missense_Mutation_p.D330N|PREPL_ENST00000409957.1_Missense_Mutation_p.D241N|PREPL_ENST00000409411.1_Missense_Mutation_p.D241N|PREPL_ENST00000409272.1_Missense_Mutation_p.D330N|PREPL_ENST00000378520.3_Missense_Mutation_p.D330N|PREPL_ENST00000378511.3_Intron|PREPL_ENST00000410081.1_Missense_Mutation_p.D330N	NM_001171617.1	NP_001165088.1	Q4J6C6	PPCEL_HUMAN	prolyl endopeptidase-like	330					proteolysis	cytosol	serine-type endopeptidase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(19)|ovary(1)|prostate(1)|skin(2)	33		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				GCAGGGGTATCAGCCGCTGTT	0.378000													7	51					0	0	0.001984	0	0
PNLIP	5406	broad.mit.edu	37	10	118306841	118306841	+	Missense_Mutation	SNP	A	A	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr10:118306841A>T	ENST00000369221.2	+	3	110	c.82A>T	c.(82-84)Agt>Tgt	p.S28C	PNLIP_ENST00000470562.1_3'UTR	NM_000936.2	NP_000927.1	P16233	LIPP_HUMAN	pancreatic lipase	28					lipid catabolic process|retinoid metabolic process|steroid metabolic process	extracellular region	retinyl-palmitate esterase activity|triglyceride lipase activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	43				all cancers(201;0.0131)	Bentiromide(DB00522)|Orlistat(DB01083)	CGGCTGCTTCAGTGATGACTC	0.428000													22	53					0	0	0.002780	0	0
WDR17	116966	broad.mit.edu	37	4	177032808	177032808	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr4:177032808G>T	ENST00000393643.2	+	2	329	c.77G>T	c.(76-78)gGa>gTa	p.G26V	WDR17_ENST00000507824.2_Missense_Mutation_p.G50V|WDR17_ENST00000280190.4_Missense_Mutation_p.G50V|WDR17_ENST00000508596.1_Missense_Mutation_p.G26V	NM_170710.4	NP_733828.2	Q8IZU2	WDR17_HUMAN	WD repeat domain 17	50										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		GCTGCCAGTGGAGACAGGTTT	0.378000													15	29					1.02788e-11	1.45207e-11	0.004990	1	0
DCDC1	341019	broad.mit.edu	37	11	31312394	31312394	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr11:31312394G>T	ENST00000597505.1	-	5	759	c.760C>A	c.(760-762)Ctg>Atg	p.L254M	DCDC1_ENST00000452803.1_Missense_Mutation_p.L254M			P59894	DCDC1_HUMAN	doublecortin domain containing 1	254					intracellular signal transduction			p.L254L(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					ATTAACAACAGATGGTCTAGA	0.328000													14	27					2.23348e-06	2.61869e-06	0.004007	1	0
TLL1	7092	broad.mit.edu	37	4	166981261	166981261	+	Missense_Mutation	SNP	A	A	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr4:166981261A>G	ENST00000061240.2	+	15	2575	c.1928A>G	c.(1927-1929)aAc>aGc	p.N643S	TLL1_ENST00000507499.1_Missense_Mutation_p.N666S	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	643	CUB 3.				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		CCTAATAAGAACTGTGTGTGG	0.428000													13	16					0	0	0.001368	0	0
LCE1A	353131	broad.mit.edu	37	1	152799984	152799984	+	Silent	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr1:152799984C>A	ENST00000335123.2	+	1	36	c.36C>A	c.(34-36)ccC>ccA	p.P12P		NM_178348.2	NP_848125.1	Q5T7P2	LCE1A_HUMAN	late cornified envelope 1A	12	Cys-rich.				keratinization					endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)|skin(1)	8	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			AGTGCCAGCCCCCTcccaagt	0.622000													21	53					1.87028e-06	2.20715e-06	0.001882	1	0
VAV1	7409	broad.mit.edu	37	19	6773018	6773018	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr19:6773018C>A	ENST00000304076.2	+	1	294	c.200C>A	c.(199-201)tCc>tAc	p.S67Y	VAV1_ENST00000539284.1_Missense_Mutation_p.S2Y|VAV1_ENST00000596764.1_Missense_Mutation_p.S67Y|VAV1_ENST00000602142.1_Missense_Mutation_p.S67Y	NM_001258206.1	NP_001245135.1	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor	67	CH.|Leu-rich.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						CCCCAGATGTCCCAGGTGAGC	0.667000													33	23					1.69901e-12	2.44793e-12	0.005524	1	0
MYO10	4651	broad.mit.edu	37	5	16672932	16672932	+	Silent	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr5:16672932C>T	ENST00000513610.1	-	37	5629	c.5175G>A	c.(5173-5175)gtG>gtA	p.V1725V	MYO10_ENST00000505695.1_Silent_p.V1064V|MYO10_ENST00000515803.1_Silent_p.V1064V|MYO10_ENST00000427430.2_Silent_p.V1082V|MYO10_ENST00000274203.9_Silent_p.V1082V	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	1725	FERM.				axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						GCTTCTCCACCACCTGGAAGA	0.567000													12	13					0	0	0.002450	0	0
GNB3	2784	broad.mit.edu	37	12	6953059	6953059	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr12:6953059G>T	ENST00000229264.3	+	9	1021	c.616G>T	c.(616-618)Gcc>Tcc	p.A206S	GNB3_ENST00000435982.2_Missense_Mutation_p.A205S	NM_002075.2	NP_002066.1	P16520	GBB3_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 3	206					cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of blood pressure|synaptic transmission	plasma membrane	GTPase activity|GTPase binding|signal transducer activity			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|stomach(1)	20						GGCCTGTGATGCCAGTGCCAA	0.582000													30	50					8.88839e-20	1.52132e-19	0.002096	1	0
BAGE2	85319	broad.mit.edu	37	21	11038964	11038964	+	RNA	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr21:11038964G>T	ENST00000470054.1	-	0	1239									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TGATGACTCTGTCTCAGATGA	0.418000													18	297					5.03518e-11	6.96365e-11	0.007413	1	0
ATP5J2	9551	broad.mit.edu	37	7	99063733	99063733	+	Splice_Site	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr7:99063733C>A	ENST00000292475.3	-	1	221		c.e1+1		ATP5J2_ENST00000466753.1_Splice_Site|PTCD1_ENST00000555673.1_Intron|ATP5J2_ENST00000488775.1_Intron|ATP5J2_ENST00000359832.4_Splice_Site|ATP5J2_ENST00000449683.1_Intron|ATP5J2_ENST00000394186.3_Intron|ATP5J2-PTCD1_ENST00000413834.1_Intron	NM_004889.3	NP_004880.1			ATP synthase, H+ transporting, mitochondrial Fo complex, subunit F2											large_intestine(1)|ovary(1)	2	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					AACAGCCTTACCTGGGGCCGG	0.647000													24	14					2.79863e-10	3.77672e-10	0.004656	1	0
JPH4	84502	broad.mit.edu	37	14	24041027	24041027	+	Silent	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr14:24041027G>T	ENST00000397118.3	-	5	2156	c.1254C>A	c.(1252-1254)ccC>ccA	p.P418P	JPH4_ENST00000544177.1_Silent_p.P83P|JPH4_ENST00000356300.4_Silent_p.P418P	NM_032452.2	NP_115828.2	Q96JJ6	JPH4_HUMAN	junctophilin 4	418					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane				endometrium(1)|large_intestine(2)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00654)		CCTCTAGCATGGGCTGCAGGT	0.632000													62	57					1.48873e-21	2.61611e-21	0.003610	1	0
CCDC73	493860	broad.mit.edu	37	11	32724484	32724484	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr11:32724484G>A	ENST00000531481.1	-	4	490	c.214C>T	c.(214-216)Ctt>Ttt	p.L72F	CCDC73_ENST00000534415.1_5'UTR|CCDC73_ENST00000335185.5_Missense_Mutation_p.L72F			Q6ZRK6	CCD73_HUMAN	coiled-coil domain containing 73	72										NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	51	Breast(20;0.112)					TGATTCTGAAGAGTTTCCTGT	0.318000													13	80					0	0	0.001855	0	0
EDEM2	55741	broad.mit.edu	37	20	33722565	33722565	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr20:33722565C>A	ENST00000540582.1	-	10	1276	c.555G>T	c.(553-555)tgG>tgT	p.W185C	EDEM2_ENST00000542871.1_Intron|EDEM2_ENST00000541621.1_5'UTR|EDEM2_ENST00000374491.2_Missense_Mutation_p.W189C|EDEM2_ENST00000374492.3_Missense_Mutation_p.W226C			Q9BV94	EDEM2_HUMAN	ER degradation enhancer, mannosidase alpha-like 2	226					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding	p.W226*(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	22			BRCA - Breast invasive adenocarcinoma(18;0.00936)			ACCGGCTCTCCCAGAGGCGCA	0.567000													29	20					9.04072e-19	1.52753e-18	0.003271	1	0
STK33	65975	broad.mit.edu	37	11	8496413	8496413	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr11:8496413G>A	ENST00000447869.1	-	1	958	c.40C>T	c.(40-42)Ccc>Tcc	p.P14S	STK33_ENST00000315204.1_Missense_Mutation_p.P14S|STK33_ENST00000358872.3_Intron|STK33_ENST00000534493.1_Intron|STK33_ENST00000396672.1_Missense_Mutation_p.P14S|STK33_ENST00000396673.1_Missense_Mutation_p.P14S			Q9BYT3	STK33_HUMAN	serine/threonine kinase 33	14						Golgi apparatus|nucleus|perinuclear region of cytoplasm	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|skin(3)	23				Epithelial(150;2.13e-06)|BRCA - Breast invasive adenocarcinoma(625;0.239)		GAACAGTCGGGGCATTTTGTG	0.393000													33	85					0	0	0.004878	0	0
ADRA1A	148	broad.mit.edu	37	8	26627890	26627890	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr8:26627890C>A	ENST00000380573.3	-	3	2200	c.1177G>T	c.(1177-1179)Ggc>Tgc	p.G393C	ADRA1A_ENST00000380586.1_Missense_Mutation_p.G393C|ADRA1A_ENST00000380587.1_Intron|ADRA1A_ENST00000354550.4_Missense_Mutation_p.G393C|ADRA1A_ENST00000380582.3_Missense_Mutation_p.G393C|ADRA1A_ENST00000380581.2_Intron|ADRA1A_ENST00000276393.4_Missense_Mutation_p.G393C|ADRA1A_ENST00000519229.1_Missense_Mutation_p.G393C			P35348	ADA1A_HUMAN	adrenoceptor alpha 1A	393					activation of phospholipase C activity|aging|apoptosis|calcium ion transport into cytosol|cell-cell signaling|intracellular protein kinase cascade|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of synaptic transmission, GABAergic|positive regulation of action potential|positive regulation of cardiac muscle contraction|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase C signaling cascade|positive regulation of vasoconstriction|response to drug|response to hormone stimulus|response to stress|smooth muscle contraction	integral to plasma membrane	alpha1-adrenergic receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|skin(1)	36		all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115)	Alfuzosin(DB00346)|Amiodarone(DB01118)|Amphetamine(DB00182)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Carvedilol(DB01136)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Epinastine(DB00751)|Epinephrine(DB00668)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Maprotiline(DB00934)|Mephentermine(DB01365)|Metaraminol(DB00610)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Nefazodone(DB01149)|Nicergoline(DB00699)|Nilutamide(DB00665)|Norepinephrine(DB00368)|Norgestrel(DB00506)|Oxymetazoline(DB00935)|Perphenazine(DB00850)|Phendimetrazine(DB01579)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Prazosin(DB00457)|Promazine(DB00420)|Promethazine(DB01069)|Propericiazine(DB01608)|Propiomazine(DB00777)|Pseudoephedrine(DB00852)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Thioridazine(DB00679)|Tolazoline(DB00797)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Ziprasidone(DB00246)	TCACAAACGCCATCCGTCTTG	0.562000													13	75					1.61879e-10	2.19888e-10	0.001368	1	0
FLG2	388698	broad.mit.edu	37	1	152327631	152327631	+	Silent	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr1:152327631G>A	ENST00000388718.5	-	3	2703	c.2631C>T	c.(2629-2631)agC>agT	p.S877S	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	877	Ser-rich.						calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ATTGACCTGAGCTTGACCTGT	0.502000													183	273					0	0	0.003610	0	0
NELL2	4753	broad.mit.edu	37	12	44913879	44913879	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr12:44913879G>T	ENST00000429094.2	-	19	2813	c.2309C>A	c.(2308-2310)aCc>aAc	p.T770N	NELL2_ENST00000452445.2_Missense_Mutation_p.T770N|NELL2_ENST00000333837.4_Missense_Mutation_p.T793N|NELL2_ENST00000395487.2_Missense_Mutation_p.T769N|NELL2_ENST00000551601.1_Missense_Mutation_p.T722N|NELL2_ENST00000549027.1_Missense_Mutation_p.T769N|NELL2_ENST00000437801.2_Missense_Mutation_p.T820N	NM_001145108.1	NP_001138580.1	Q99435	NELL2_HUMAN	NEL-like 2 (chicken)	770	VWFC 5.				cell adhesion	extracellular region	calcium ion binding|protein binding|structural molecule activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		GCAAGTCTTGGTGATGTCATT	0.532000													12	64					3.07112e-06	3.57762e-06	0.000978	1	0
IGHV1OR16-4	28312	broad.mit.edu	37	16	33013853	33013853	+	RNA	SNP	T	T	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr16:33013853T>A	ENST00000567619.1	-	0	499																											TCAGTGAAGGTCTCCTGCCAG	0.572000													13	101					0	0	0.007413	0	0
PCDH19	57526	broad.mit.edu	37	X	99662048	99662048	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chrX:99662048G>T	ENST00000373034.4	-	1	3223	c.1548C>A	c.(1546-1548)taC>taA	p.Y516*	PCDH19_ENST00000255531.7_Nonsense_Mutation_p.Y516*|PCDH19_ENST00000420881.2_Nonsense_Mutation_p.Y516*	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	516	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						ATCGCAGCGCGTAGATGTCGC	0.582000													22	64					2.32416e-17	3.78984e-17	0.002299	1	0
KRT82	3888	broad.mit.edu	37	12	52799947	52799947	+	Silent	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr12:52799947G>T	ENST00000257974.2	-	1	192	c.115C>A	c.(115-117)Cgg>Agg	p.R39R		NM_033033.3	NP_149022.3	Q9NSB4	KRT82_HUMAN	keratin 82	39	Head.					keratin filament	protein binding|structural constituent of epidermis			endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	29				BRCA - Breast invasive adenocarcinoma(357;0.193)		CCCCCGGGCCGGCATGGCCCC	0.657000													12	19					1.5842e-08	2.03002e-08	0.001855	1	0
LDLRAD3	143458	broad.mit.edu	37	11	36103329	36103329	+	Splice_Site	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr11:36103329G>T	ENST00000315571.5	+	3	340		c.e3+1		LDLRAD3_ENST00000524419.1_Splice_Site|LDLRAD3_ENST00000528989.1_Splice_Site	NM_174902.2	NP_777562.1	Q86YD5	LRAD3_HUMAN	low density lipoprotein receptor class A domain containing 3							integral to membrane	receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(7)|skin(1)	28	all_lung(20;0.089)|Lung NSC(22;0.175)|all_epithelial(35;0.177)	all_hematologic(20;0.124)				GAGAACTGCAGTAAGTGCTGC	0.527000													29	53					1.74807e-11	2.45987e-11	0.002096	1	0
HTR5A	3361	broad.mit.edu	37	7	154875913	154875913	+	Missense_Mutation	SNP	G	G	A	rs150067714	byFrequency	TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr7:154875913G>A	ENST00000287907.2	+	2	1366	c.790G>A	c.(790-792)Gcc>Acc	p.A264T	HTR5A_ENST00000486819.1_3'UTR	NM_024012.3	NP_076917.1	P47898	5HT5A_HUMAN	5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled	264						integral to plasma membrane	serotonin receptor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)		GGTCCGCCACGCCACCGTCAC	0.602000													14	28					0	0	0.004007	0	0
DCC	1630	broad.mit.edu	37	18	50976902	50976902	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr18:50976902G>T	ENST00000442544.2	+	23	3878	c.3262G>T	c.(3262-3264)Ggc>Tgc	p.G1088C	DCC_ENST00000581580.1_Missense_Mutation_p.G723C	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	1088					apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		CCCCCCGCATGGCAGTGTCAC	0.498000													19	35					1.56452e-12	2.25641e-12	0.007413	1	0
LATS2	26524	broad.mit.edu	37	13	21557801	21557801	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr13:21557801C>A	ENST00000382592.4	-	5	2449	c.2044G>T	c.(2044-2046)Gtg>Ttg	p.V682L	LATS2_ENST00000542899.1_Missense_Mutation_p.V682L	NM_014572.2	NP_055387.2	Q9NRM7	LATS2_HUMAN	large tumor suppressor kinase 2	682	Protein kinase.				cell division|G1/S transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|intracellular protein kinase cascade|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity	microtubule organizing center|nucleus|spindle pole	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2)	45		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)		GCAAGGCACACTTCTCCAAAG	0.498000													26	27					3.01185e-09	3.94318e-09	0.003954	1	0
C7orf63	79846	broad.mit.edu	37	7	89891302	89891302	+	Silent	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr7:89891302G>T	ENST00000389297.4	+	4	539	c.288G>T	c.(286-288)ctG>ctT	p.L96L	C7orf63_ENST00000497910.1_Silent_p.L96L|C7orf63_ENST00000463311.1_3'UTR|C7orf63_ENST00000316089.8_Silent_p.L96L	NM_001039706.2|NM_001160138.1	NP_001034795.2|NP_001153610.1	A5D8W1	CG063_HUMAN	chromosome 7 open reading frame 63	96							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|prostate(3)	37						TTCTGAATCTGTGTTCAGGAA	0.249000													152	37					1.19275e-65	2.34342e-65	0.003610	1	0
SPNS1	83985	broad.mit.edu	37	16	28993752	28993752	+	Silent	SNP	C	C	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr16:28993752C>G	ENST00000311008.11	+	8	1418	c.1041C>G	c.(1039-1041)ctC>ctG	p.L347L	SPNS1_ENST00000352260.7_Silent_p.L273L|SPNS1_ENST00000334536.8_Silent_p.L295L|SPNS1_ENST00000323081.8_Silent_p.L274L|RP11-264B17.3_ENST00000569969.1_RNA|SPNS1_ENST00000565975.1_Silent_p.L392L	NM_032038.2	NP_114427.1	Q9H2V7	SPNS1_HUMAN	spinster homolog 1 (Drosophila)	347					lipid transport|transmembrane transport	integral to membrane|mitochondrial inner membrane	protein binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)|urinary_tract(1)	21						GCCGCCGGCTCCGCCACTCCA	0.657000													25	65					0	0	0.007291	0	0
ABCB11	8647	broad.mit.edu	37	2	169780256	169780256	+	Missense_Mutation	SNP	T	T	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr2:169780256T>C	ENST00000263817.6	-	28	3966	c.3842A>G	c.(3841-3843)cAg>cGg	p.Q1281R		NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 11	1281	ABC transporter 2.				bile acid biosynthetic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)	ATCCGCGTTCTGGATGGTGGA	0.512000													22	48					0	0	0.001882	0	0
TCP10	6953	broad.mit.edu	37	6	167790080	167790080	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr6:167790080C>A	ENST00000366827.2	-	5	741	c.530G>T	c.(529-531)aGg>aTg	p.R177M	TCP10_ENST00000397829.4_Missense_Mutation_p.R177M			Q12799	TCP10_HUMAN	t-complex 10	204						cytosol				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(6)	18		Breast(66;1.53e-05)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)|GBM - Glioblastoma multiforme(31;0.0386)		GGGAGTCGGCCTTCCAGTGGG	0.527000													22	55					1.75199e-13	2.60995e-13	0.007291	1	0
ERBB4	2066	broad.mit.edu	37	2	212295716	212295716	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr2:212295716C>T	ENST00000342788.4	-	21	2907	c.2597G>A	c.(2596-2598)aGa>aAa	p.R866K	ERBB4_ENST00000436443.1_Missense_Mutation_p.R866K|ERBB4_ENST00000402597.1_Missense_Mutation_p.R856K	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	866	Protein kinase.				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		TTCCAAGAGTCTGGCTAGCCC	0.403000										TSP Lung(8;0.080)			42	85					0	0	0.002522	0	0
UBR4	23352	broad.mit.edu	37	1	19467338	19467338	+	Missense_Mutation	SNP	T	T	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr1:19467338T>C	ENST00000375267.2	-	58	8540	c.8537A>G	c.(8536-8538)cAg>cGg	p.Q2846R	UBR4_ENST00000375226.2_Intron|UBR4_ENST00000375254.3_Missense_Mutation_p.Q2846R|UBR4_ENST00000375217.2_Intron			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	2846					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		GCTGGGTGCCTGGCCGGACAG	0.632000													8	9					0	0	0.004482	0	0
LYG1	129530	broad.mit.edu	37	2	99901279	99901279	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr2:99901279G>T	ENST00000409448.1	-	7	654	c.338C>A	c.(337-339)cCt>cAt	p.P113H	LYG1_ENST00000308528.4_Missense_Mutation_p.P113H			Q8N1E2	LYG1_HUMAN	lysozyme G-like 1	113					cell wall macromolecule catabolic process|peptidoglycan catabolic process	extracellular region	lysozyme activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(1)	7						TTGAGAGCCAGGGTCCTGCAG	0.517000													23	25					9.95505e-16	1.56514e-15	0.002299	1	0
OR51F1	256892	broad.mit.edu	37	11	4790226	4790226	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr11:4790226G>T	ENST00000380383.1	-	1	942	c.943C>A	c.(943-945)Ctg>Atg	p.L315M	MMP26_ENST00000380390.1_Intron|OR51F1_ENST00000343430.3_Missense_Mutation_p.L308M|MMP26_ENST00000477339.1_Intron			A6NLW9	A6NLW9_HUMAN	olfactory receptor, family 51, subfamily F, member 1	308						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)		GTAAGCAGCAGACTGAGCATA	0.418000													28	27					3.73988e-18	6.21026e-18	0.006320	1	0
ZNF496	84838	broad.mit.edu	37	1	247492105	247492105	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr1:247492105C>A	ENST00000294753.4	-	4	918	c.454G>T	c.(454-456)Gag>Tag	p.E152*	ZNF496_ENST00000366498.2_Nonsense_Mutation_p.E152*	NM_032752.1	NP_116141.1	Q96IT1	ZN496_HUMAN	zinc finger protein 496	152					positive regulation of transcription, DNA-dependent|viral reproduction		DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	36	all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)		OV - Ovarian serous cystadenocarcinoma(106;0.00703)			GGCAGCTGCTCCTGCTCCTGG	0.597000													26	125					1.5548e-18	2.59971e-18	0.005443	1	0
PIK3CA	5290	broad.mit.edu	37	3	178937410	178937410	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr3:178937410G>A	ENST00000263967.3	+	12	1955	c.1798G>A	c.(1798-1800)Gaa>Aaa	p.E600K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	600	PI3K helical.				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity			NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			ACAGGCTATGGAACTTCTGGA	0.363000		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			11	27					0	0	0.004007	0	0
STXBP5	134957	broad.mit.edu	37	6	147680250	147680250	+	Missense_Mutation	SNP	G	G	T	rs144076925		TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr6:147680250G>T	ENST00000367481.3	+	21	2336	c.2228G>T	c.(2227-2229)cGg>cTg	p.R743L	STXBP5_ENST00000321680.6_Missense_Mutation_p.R779L|STXBP5_ENST00000367480.3_Missense_Mutation_p.R726L|STXBP5_ENST00000179882.6_Missense_Mutation_p.R434L	NM_139244.4	NP_640337.3	Q5T5C0	STXB5_HUMAN	syntaxin binding protein 5 (tomosyn)	779					exocytosis|positive regulation of exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|nicotinic acetylcholine-gated receptor-channel complex|synaptic vesicle	syntaxin-1 binding	p.R743L(1)|p.R779L(1)		breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	42		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)		AGCCGATCACGGAGTTCAAGT	0.383000													13	23					7.93312e-07	9.47004e-07	0.002450	1	0
COL6A2	1292	broad.mit.edu	37	21	47532214	47532214	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr21:47532214G>A	ENST00000300527.4	+	3	541	c.437G>A	c.(436-438)cGg>cAg	p.R146Q	COL6A2_ENST00000409416.1_Missense_Mutation_p.R146Q|COL6A2_ENST00000357838.4_Missense_Mutation_p.R146Q|COL6A2_ENST00000397763.1_Missense_Mutation_p.R146Q|COL6A2_ENST00000310645.5_Missense_Mutation_p.R146Q	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	146	Nonhelical region.|VWFA 1.				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging			NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		GAGCAGATCCGGCAGGACCGC	0.687000													6	17					0	0	0.001168	0	0
DOCK8	81704	broad.mit.edu	37	9	376232	376232	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr9:376232C>T	ENST00000432829.2	+	19	2244	c.1928C>T	c.(1927-1929)cCc>cTc	p.P643L	DOCK8_ENST00000453981.1_Missense_Mutation_p.P711L|DOCK8_ENST00000382331.1_Missense_Mutation_p.P13L|DOCK8_ENST00000382329.1_Missense_Mutation_p.P178L|DOCK8_ENST00000469391.1_Missense_Mutation_p.P643L	NM_203447.3	NP_982272.2	Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	711					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		CAGAATCCTCCCATTAAGTGG	0.373000													33	103					0	0	0.002836	0	0
IFT172	26160	broad.mit.edu	37	2	27677520	27677520	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr2:27677520C>T	ENST00000260570.3	-	31	3482	c.3379G>A	c.(3379-3381)Gaa>Aaa	p.E1127K		NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN	intraflagellar transport 172 homolog (Chlamydomonas)	1127					cilium assembly	cilium	binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					AACGCAAATTCAAAGGAGCTG	0.443000													10	38					0	0	0.008291	0	0
L1CAM	3897	broad.mit.edu	37	X	153132121	153132121	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chrX:153132121C>A	ENST00000370060.1	-	19	2603	c.2414G>T	c.(2413-2415)gGc>gTc	p.G805V	L1CAM_ENST00000361981.3_Missense_Mutation_p.G800V|L1CAM_ENST00000370057.3_Missense_Mutation_p.G805V|L1CAM_ENST00000361699.4_Missense_Mutation_p.G805V|L1CAM_ENST00000538883.1_Missense_Mutation_p.G807V|L1CAM_ENST00000543994.1_Missense_Mutation_p.G807V|L1CAM_ENST00000370055.1_Missense_Mutation_p.G800V	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	805	Fibronectin type-III 2.				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane				NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TCCAGAGTAGCCGATAGTGAC	0.612000													17	54					1.33834e-09	1.76817e-09	0.007413	1	0
NEB	4703	broad.mit.edu	37	2	152410485	152410485	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr2:152410485C>A	ENST00000397345.3	-	126	19685	c.19483G>T	c.(19483-19485)Gac>Tac	p.D6495Y	NEB_ENST00000603639.1_Missense_Mutation_p.D6495Y|NEB_ENST00000604864.1_Missense_Mutation_p.D6495Y|NEB_ENST00000427231.2_Missense_Mutation_p.D6495Y|NEB_ENST00000409198.1_Missense_Mutation_p.D4794Y|NEB_ENST00000172853.10_Missense_Mutation_p.D4794Y	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN	nebulin	4794	Interaction with SVIL.				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TCTACCATGTCGGGCACGATG	0.453000													26	91					6.32553e-13	9.22394e-13	0.004656	1	0
TPK1	27010	broad.mit.edu	37	7	144380019	144380019	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr7:144380019G>T	ENST00000538212.2	-	2	102	c.32C>A	c.(31-33)cCg>cAg	p.P11Q	TPK1_ENST00000378099.3_Silent_p.T56T|TPK1_ENST00000549981.1_5'UTR|TPK1_ENST00000360057.3_Silent_p.T56T			Q9H3S4	TPK1_HUMAN	thiamin pyrophosphokinase 1	0					thiamine diphosphate biosynthetic process	cytosol	ATP binding|kinase activity|thiamine diphosphokinase activity			large_intestine(3)|lung(12)|ovary(2)|urinary_tract(2)	19					Thiamine(DB00152)	TCTCTCCTTCGGTGATATCAT	0.388000													37	83					6.53348e-20	1.12491e-19	0.003755	1	0
HYDIN	54768	broad.mit.edu	37	16	71212912	71212912	+	Silent	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr16:71212912G>A	ENST00000393567.2	-	4	450	c.300C>T	c.(298-300)ccC>ccT	p.P100P	HYDIN_ENST00000538248.1_Silent_p.P127P|HYDIN_ENST00000448691.1_Silent_p.P100P|HYDIN_ENST00000321489.5_Silent_p.P100P|HYDIN_ENST00000288168.10_Silent_p.P117P|HYDIN_ENST00000448089.2_Silent_p.P100P|HYDIN_ENST00000393550.2_Silent_p.P100P|HYDIN_ENST00000541601.1_Silent_p.P117P	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	100										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				CTGATGGAAAGGGCTGGAATA	0.378000													13	42					0	0	0.001855	0	0
SCN8A	6334	broad.mit.edu	37	12	52201157	52201157	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr12:52201157G>A	ENST00000354534.5	+	27	6065	c.5887G>A	c.(5887-5889)Gaa>Aaa	p.E1963K	SCN8A_ENST00000545061.1_Missense_Mutation_p.E1922K	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	1963					axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Lamotrigine(DB00555)	GCGGGCAGAGGAAGGAAGAAG	0.453000													9	19					0	0	0.004482	0	0
CRISP2	7180	broad.mit.edu	37	6	49666144	49666144	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr6:49666144G>T	ENST00000339139.4	-	7	584	c.348C>A	c.(346-348)gaC>gaA	p.D116E		NM_001142407.2|NM_001142408.2|NM_001142417.2|NM_001142435.2|NM_001261822.1|NM_003296.3	NP_001135879.1|NP_001135880.1|NP_001135889.1|NP_001135907.1|NP_001248751.1|NP_003287.1	P16562	CRIS2_HUMAN	cysteine-rich secretory protein 2	116						extracellular space		p.D116D(1)		kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	19	Lung NSC(77;0.0161)		KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)			CTAGGATCTCGTCATACCAGC	0.423000													47	47					7.88023e-25	1.44255e-24	0.003610	1	0
UNC5A	90249	broad.mit.edu	37	5	176304276	176304276	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr5:176304276G>A	ENST00000329542.4	+	9	1736	c.1462G>A	c.(1462-1464)Gtg>Atg	p.V488M	UNC5A_ENST00000261961.3_Missense_Mutation_p.V448M	NM_133369.2	NP_588610.2	Q6ZN44	UNC5A_HUMAN	unc-5 homolog A (C. elegans)	488	ZU5.				apoptosis|axon guidance|regulation of apoptosis	integral to membrane|plasma membrane				endometrium(4)|kidney(3)|large_intestine(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	34	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCCGGAAGACGTGAGGTGTGG	0.652000													21	18					0	0	0.002780	0	0
KIF4B	285643	broad.mit.edu	37	5	154394675	154394675	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr5:154394675G>A	ENST00000435029.4	+	1	1416	c.1256G>A	c.(1255-1257)aGg>aAg	p.R419K		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	419					axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity	p.R419M(2)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			ATGTTGGAGAGGATCATTTTG	0.478000													29	44					0	0	0.008361	0	0
DST	667	broad.mit.edu	37	6	56515773	56515773	+	Missense_Mutation	SNP	T	T	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr6:56515773T>C	ENST00000370754.5	-	11	1285	c.1286A>G	c.(1285-1287)tAt>tGt	p.Y429C	DST_ENST00000370788.2_Missense_Mutation_p.Y251C|DST_ENST00000370769.4_Missense_Mutation_p.Y251C|DST_ENST00000361203.3_Missense_Mutation_p.Y251C|DST_ENST00000312431.6_Missense_Mutation_p.Y251C|DST_ENST00000421834.2_Missense_Mutation_p.Y251C			Q03001	DYST_HUMAN	dystonin	251					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			AAATGCATCATAGAGAGATGA	0.368000													42	31					0	0	0.003610	0	0
NCKAP1L	3071	broad.mit.edu	37	12	54929927	54929927	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr12:54929927G>T	ENST00000293373.6	+	28	3050	c.2971G>T	c.(2971-2973)Gag>Tag	p.E991*	NCKAP1L_ENST00000545638.2_Nonsense_Mutation_p.E941*	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	991					actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						TTCATCTCCTGAGGAGGAATA	0.448000													35	53					1.07637e-12	1.56014e-12	0.004878	1	0
HRG	3273	broad.mit.edu	37	3	186394987	186394987	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr3:186394987C>A	ENST00000232003.4	+	7	973	c.893C>A	c.(892-894)cCa>cAa	p.P298Q		NM_000412.2	NP_000403.1	P04196	HRG_HUMAN	histidine-rich glycoprotein	298	Pro-rich.				fibrinolysis|platelet activation|platelet degranulation	extracellular region|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(12)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0683)		CATGGACCCCCACCTCCTCCA	0.542000													20	110					3.10358e-05	3.52469e-05	0.002299	1	0
CYTH4	27128	broad.mit.edu	37	22	37690736	37690736	+	Silent	SNP	A	A	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr22:37690736A>G	ENST00000248901.6	+	3	325	c.138A>G	c.(136-138)caA>caG	p.Q46Q	CYTH4_ENST00000439667.1_3'UTR|CYTH4_ENST00000405206.3_Silent_p.Q46Q|CYTH4_ENST00000402997.1_Silent_p.Q46Q	NM_013385.3	NP_037517.1	Q9UIA0	CYH4_HUMAN	cytohesin 4	46					regulation of ARF protein signal transduction|regulation of cell adhesion	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(2)|stomach(1)	15						TGTTTGCCCAAATCGACTGCT	0.587000													20	68					0	0	0.002299	0	0
OR4A16	81327	broad.mit.edu	37	11	55110788	55110788	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr11:55110788G>T	ENST00000314721.2	+	1	162	c.112G>T	c.(112-114)Gtg>Ttg	p.V38L		NM_001005274.1	NP_001005274.1	Q8NH70	O4A16_HUMAN	olfactory receptor, family 4, subfamily A, member 16	38					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						TGTGACAATGGTGGGAAACCT	0.423000													18	56					2.89027e-11	4.01257e-11	0.002299	1	0
ARHGAP1	392	broad.mit.edu	37	11	46700978	46700978	+	Silent	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr11:46700978G>A	ENST00000311956.4	-	12	1165	c.1068C>T	c.(1066-1068)gtC>gtT	p.V356V		NM_004308.2	NP_004299.1	Q07960	RHG01_HUMAN	Rho GTPase activating protein 1	356	Rho-GAP.				Rho protein signal transduction	cytosol|intracellular membrane-bounded organelle	SH3 domain binding|SH3/SH2 adaptor activity			endometrium(1)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	11		Lung NSC(402;1.76e-12)|all_lung(304;1.3e-11)		GBM - Glioblastoma multiforme(35;5.17e-06)|BRCA - Breast invasive adenocarcinoma(625;0.00112)|Lung(87;0.153)		GCGTCTGGAGGACCTGCAGTG	0.597000													17	29					0	0	0.008871	0	0
CCNB3	85417	broad.mit.edu	37	X	50051958	50051958	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chrX:50051958G>T	ENST00000376042.1	+	6	1087	c.789G>T	c.(787-789)atG>atT	p.M263I	CCNB3_ENST00000376038.1_Intron|CCNB3_ENST00000348603.2_Intron|CCNB3_ENST00000276014.7_Missense_Mutation_p.M263I			Q8WWL7	CCNB3_HUMAN	cyclin B3	263					cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	nucleus	protein kinase binding			breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					CCTTCTTTATGGAGTCAATGA	0.413000													23	71					1.55795e-14	2.3872e-14	0.001882	1	0
PNLIPRP3	119548	broad.mit.edu	37	10	118231387	118231387	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr10:118231387G>T	ENST00000369230.3	+	10	1314	c.1168G>T	c.(1168-1170)Gtc>Ttc	p.V390F		NM_001011709.2	NP_001011709.2	Q17RR3	LIPR3_HUMAN	pancreatic lipase-related protein 3	390	PLAT.				lipid catabolic process	extracellular region	triglyceride lipase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(29)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50				all cancers(201;0.0131)		GTTTGCCATTGTCAGGTAGGC	0.483000													12	37					1.15088e-07	1.42433e-07	0.004007	1	0
ACVRL1	94	broad.mit.edu	37	12	52309904	52309904	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr12:52309904C>A	ENST00000550683.1	+	7	1276	c.1175C>A	c.(1174-1176)cCc>cAc	p.P392H	ACVRL1_ENST00000419526.2_Missense_Mutation_p.P204H|ACVRL1_ENST00000388922.4_Missense_Mutation_p.P378H	NM_001077401.1	NP_001070869.1	P37023	ACVL1_HUMAN	activin A receptor type II-like 1	378	Protein kinase.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|blood vessel maturation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of endothelial cell migration|negative regulation of focal adhesion assembly|positive regulation of BMP signaling pathway|positive regulation of transcription, DNA-dependent|regulation of blood pressure|regulation of blood vessel endothelial cell migration|regulation of DNA replication|regulation of endothelial cell proliferation|transforming growth factor beta receptor signaling pathway|wound healing, spreading of epidermal cells	cell surface|integral to plasma membrane	activin binding|activin receptor activity, type I|ATP binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	20				BRCA - Breast invasive adenocarcinoma(357;0.0991)	Adenosine triphosphate(DB00171)	TACATGGCACCCGAGGTGCTG	0.627000													42	65					8.20599e-20	1.40785e-19	0.002852	1	0
GPR115	221393	broad.mit.edu	37	6	47682757	47682757	+	Silent	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr6:47682757C>T	ENST00000283303.2	+	6	2034	c.1776C>T	c.(1774-1776)tcC>tcT	p.S592S	GPR115_ENST00000371220.1_Silent_p.S649S|GPR115_ENST00000327753.3_Silent_p.S592S	NM_153838.3	NP_722580.3	Q8IZF3	GP115_HUMAN	G protein-coupled receptor 115	592					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	52						TTGGCAGTTCCAAGTCTCAGG	0.473000													12	116					0	0	0.001855	0	0
ELF1	1997	broad.mit.edu	37	13	41515310	41515310	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr13:41515310G>A	ENST00000239882.3	-	8	1317	c.1003C>T	c.(1003-1005)Cca>Tca	p.P335S	ELF1_ENST00000442101.1_Missense_Mutation_p.P311S|ELF1_ENST00000498824.1_5'UTR	NM_172373.3	NP_758961.1	P32519	ELF1_HUMAN	E74-like factor 1 (ets domain transcription factor)	335					positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37		Lung NSC(96;8.3e-05)|Prostate(109;0.0233)|Breast(139;0.0296)|Lung SC(185;0.0367)		all cancers(112;1.87e-08)|Epithelial(112;8.45e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000202)|GBM - Glioblastoma multiforme(144;0.00266)|BRCA - Breast invasive adenocarcinoma(63;0.072)		TTTACCCCTGGACTTGAAGAT	0.448000													11	83					0	0	0.002450	0	0
HCN1	348980	broad.mit.edu	37	5	45262811	45262811	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr5:45262811C>A	ENST00000303230.4	-	8	1942	c.1885G>T	c.(1885-1887)Gac>Tac	p.D629Y		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	629						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						ATCTCCCTGTCATGTTTCACA	0.448000													19	88					9.7654e-05	0.000108438	0.007413	1	0
COL8A2	1296	broad.mit.edu	37	1	36563225	36563225	+	Missense_Mutation	SNP	T	T	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr1:36563225T>C	ENST00000397799.1	-	4	2281	c.2057A>G	c.(2056-2058)tAc>tGc	p.Y686C	COL8A2_ENST00000481785.1_Missense_Mutation_p.Y621C|COL8A2_ENST00000303143.4_Missense_Mutation_p.Y686C			P25067	CO8A2_HUMAN	collagen, type VIII, alpha 2	686	C1q.|Nonhelical region (NC1).				angiogenesis|cell-cell adhesion|extracellular matrix organization	basement membrane|collagen	extracellular matrix structural constituent|protein binding, bridging			NS(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CTCCGTGGAGTAGAGGCCGTT	0.647000													11	28					0	0	0.008291	0	0
SIGLEC11	114132	broad.mit.edu	37	19	50453299	50453299	+	Silent	SNP	T	T	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr19:50453299T>A	ENST00000447370.2	-	11	2115	c.2025A>T	c.(2023-2025)acA>acT	p.T675T	CTC-326K19.6_ENST00000451973.1_Intron|SIGLEC11_ENST00000426971.2_Silent_p.T579T	NM_052884.2	NP_443116.2	Q96RL6	SIG11_HUMAN	sialic acid binding Ig-like lectin 11	675					cell adhesion	integral to membrane	sugar binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1)	32		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517)		GGGGCTGTCCTGTGTGGATCT	0.607000													7	19					0	0	0.004482	0	0
XG	7499	broad.mit.edu	37	X	2712644	2712644	+	Splice_Site	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chrX:2712644G>T	ENST00000426774.1	+	6	548	c.325_splice	c.e6+1	p.G109_splice	XG_ENST00000419513.2_Splice_Site_p.G108_splice|XG_ENST00000381174.5_Splice_Site_p.G108_splice	NM_001141920.1|NM_175569.2	NP_001135392.1|NP_780778.1	P55808	XG_HUMAN	Xg blood group	108						integral to membrane|plasma membrane				endometrium(1)|large_intestine(3)|lung(3)|ovary(1)	8		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				GCCGCCTGCAGGTAGGTGCCG	0.612000													5	10					3.59834e-05	4.06744e-05	0.001168	1	0
ZNF788	388507	broad.mit.edu	37	19	12222283	12222283	+	Translation_Start_Site	SNP	A	A	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr19:12222283A>T	ENST00000339302.4	+	0	558				ZNF788_ENST00000430298.2_3'UTR|ZNF20_ENST00000600335.1_Intron|ZNF788_ENST00000596883.1_3'UTR					zinc finger family member 788											endometrium(1)|haematopoietic_and_lymphoid_tissue(1)	2						CGCCATATAAATGTACATACT	0.433000													6	14					0	0	0.001168	0	0
DNAH1	25981	broad.mit.edu	37	3	52426606	52426606	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr3:52426606G>T	ENST00000420323.2	+	64	10440	c.10179G>T	c.(10177-10179)caG>caT	p.Q3393H		NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	3458	AAA 5 (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		TTGAGGACCAGATCCTGTACC	0.562000													8	7					3.09899e-07	3.77721e-07	0.004482	1	0
DENND5A	23258	broad.mit.edu	37	11	9199820	9199820	+	Missense_Mutation	SNP	T	T	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr11:9199820T>C	ENST00000328194.3	-	8	2085	c.1765A>G	c.(1765-1767)Ata>Gta	p.I589V	DENND5A_ENST00000530044.1_Missense_Mutation_p.I589V	NM_001243254.1|NM_015213.3	NP_001230183.1|NP_056028.2	Q6IQ26	DEN5A_HUMAN	DENN/MADD domain containing 5A	589										breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						TGACACATTATTTTGTTGTCA	0.468000													21	52					0	0	0.008871	0	0
TMEM260	54916	broad.mit.edu	37	14	57083900	57083900	+	Splice_Site	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr14:57083900G>A	ENST00000261556.6	+	9	1063		c.e9-1		TMEM260_ENST00000536419.1_Splice_Site|TMEM260_ENST00000538838.1_Splice_Site|TMEM260_ENST00000553335.1_Splice_Site	NM_017799.3	NP_060269.3			transmembrane protein 260																		ATTTTTTGTAGGGACAGACAG	0.264000													10	39					0	0	0.006214	0	0
DMD	1756	broad.mit.edu	37	X	32366641	32366641	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chrX:32366641G>A	ENST00000357033.4	-	38	5536	c.5330C>T	c.(5329-5331)tCc>tTc	p.S1777F	DMD_ENST00000378677.2_Missense_Mutation_p.S1773F	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	1777	Interaction with SYNM (By similarity).				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				CAAAGGAATGGAGGCCTAAAA	0.338000													6	18					0	0	0.001168	0	0
RAI2	10742	broad.mit.edu	37	X	17818977	17818977	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chrX:17818977G>C	ENST00000545871.1	-	3	1614	c.1154C>G	c.(1153-1155)tCt>tGt	p.S385C	RAI2_ENST00000451717.1_Missense_Mutation_p.S385C|RAI2_ENST00000415486.3_Missense_Mutation_p.S335C|RAI2_ENST00000360011.1_Missense_Mutation_p.S385C|RAI2_ENST00000331511.1_Missense_Mutation_p.S385C	NM_001172739.1|NM_001172743.1	NP_001166210.1|NP_001166214.1	Q9Y5P3	RAI2_HUMAN	retinoic acid induced 2	385					embryo development					breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	22	Hepatocellular(33;0.183)					AGGGGCAAAAGAAATTTCCAT	0.557000													8	49					0	0	0.004482	0	0
DGCR8	54487	broad.mit.edu	37	22	20093787	20093787	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr22:20093787G>T	ENST00000351989.3	+	10	2305	c.1876G>T	c.(1876-1878)Gag>Tag	p.E626*	DGCR8_ENST00000383024.2_Nonsense_Mutation_p.E593*|DGCR8_ENST00000407755.1_Nonsense_Mutation_p.E593*	NM_022720.6	NP_073557.3	Q8WYQ5	DGCR8_HUMAN	DGCR8 microprocessor complex subunit	626	DRBM 2.|Necessary for heme-binding and pri-miRNA processing.|Necessary for interaction with DROSHA.				primary miRNA processing	cytoplasm|microtubule cytoskeleton|nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding			NS(2)|breast(1)|endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	Colorectal(54;0.0993)					GATCCTCCACGAGTGCCTTAA	0.547000													12	42					2.80697e-09	3.68495e-09	0.000978	1	0
ATE1	11101	broad.mit.edu	37	10	123661976	123661976	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr10:123661976G>A	ENST00000369043.3	-	6	829	c.743C>T	c.(742-744)tCc>tTc	p.S248F	ATE1_ENST00000369040.3_Missense_Mutation_p.S152F|ATE1_ENST00000540606.1_Missense_Mutation_p.S241F|ATE1_ENST00000535655.1_Intron|ATE1_ENST00000481784.1_5'UTR|ATE1_ENST00000224652.6_Missense_Mutation_p.S248F|ATE1_ENST00000543447.1_Missense_Mutation_p.S133F	NM_007041.2	NP_008972.2	O95260	ATE1_HUMAN	arginyltransferase 1	248					protein arginylation	cytoplasm|nucleus	acyltransferase activity|arginyltransferase activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		all_neural(114;0.061)|Lung NSC(174;0.095)|all_lung(145;0.124)|Breast(234;0.212)				TGGCTGGTTGGATTTAGCCTT	0.413000													33	164					0	0	0.004878	0	0
KARS	3735	broad.mit.edu	37	16	75668151	75668151	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr16:75668151C>T	ENST00000319410.5	-	8	1040	c.919G>A	c.(919-921)Gtg>Atg	p.V307M	KARS_ENST00000302445.3_Missense_Mutation_p.V279M|KARS_ENST00000568378.1_Intron	NM_001130089.1	NP_001123561.1	Q15046	SYK_HUMAN	lysyl-tRNA synthetase	279					interspecies interaction between organisms|lysyl-tRNA aminoacylation|tRNA processing	cytosol|extracellular region|mitochondrial matrix|nucleus|plasma membrane|soluble fraction	ATP binding|lysine-tRNA ligase activity|metal ion binding|tRNA binding			kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	18					L-Lysine(DB00123)	GGCTTGGCCACGGCTCCCCCT	0.448000													32	55					0	0	0.008361	0	0
ANK3	288	broad.mit.edu	37	10	62038534	62038534	+	Nonsense_Mutation	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr10:62038534G>A	ENST00000280772.1	-	4	603	c.412C>T	c.(412-414)Cag>Tag	p.Q138*	ANK3_ENST00000373827.2_Nonsense_Mutation_p.Q132*|ANK3_ENST00000503366.1_Nonsense_Mutation_p.Q121*	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	138					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						AGGCTTACCTGAGATTGTGCA	0.423000													30	92					0	0	0.002096	0	0
BCL2	596	broad.mit.edu	37	18	60985850	60985850	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr18:60985850T>A	ENST00000398117.1	-	1	1511	c.50A>T	c.(49-51)aAg>aTg	p.K17M	BCL2_ENST00000333681.4_Missense_Mutation_p.K17M|BCL2_ENST00000444484.1_Missense_Mutation_p.K17M|BCL2_ENST00000589955.1_Missense_Mutation_p.K17M	NM_000633.2	NP_000624.2	P10415	BCL2_HUMAN	B-cell CLL/lymphoma 2	17					activation of pro-apoptotic gene products|anti-apoptosis|apoptosis in response to endoplasmic reticulum stress|B cell proliferation|B cell receptor signaling pathway|defense response to virus|female pregnancy|humoral immune response|induction of apoptosis by intracellular signals|negative regulation of cellular pH reduction|negative regulation of mitochondrial depolarization|negative regulation of neuron apoptosis|neuron apoptosis|positive regulation of B cell proliferation|positive regulation of cell growth|protein polyubiquitination|regulation of mitochondrial membrane permeability|regulation of mitochondrial membrane potential|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|regulation of transmembrane transporter activity|release of cytochrome c from mitochondria|response to cytokine stimulus|response to DNA damage stimulus|response to drug|response to iron ion|response to nicotine|response to toxin	endoplasmic reticulum membrane|mitochondrial outer membrane|nuclear membrane|pore complex	BH3 domain binding|channel activity|protease binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(106)|kidney(1)|large_intestine(1)|lung(3)	113		all_hematologic(56;1.18e-20)|Prostate(75;0.0872)		Lung(128;0.0234)|READ - Rectum adenocarcinoma(59;0.0935)	Docetaxel(DB01248)|Fludarabine(DB01073)|Melatonin(DB01065)|Paclitaxel(DB01229)|Rasagiline(DB01367)	ATGGATGTACTTCATCACTAT	0.647000			T	IGH@	"""NHL, CLL"""								26	58					0	0	0.006320	0	0
CXXC11	285093	broad.mit.edu	37	2	242815135	242815135	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr2:242815135C>G	ENST00000343216.3	+	2	1456	c.1428C>G	c.(1426-1428)ttC>ttG	p.F476L		NM_173821.2	NP_776182.2	Q14D33	CB085_HUMAN	CXXC finger protein 11	476						integral to membrane											CCATCCCCTTCGCAGTCTTCG	0.627000													21	69					0	0	0.010504	0	0
TTN	7273	broad.mit.edu	37	2	179442720	179442720	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr2:179442720G>T	ENST00000589042.1	-	322	68746	c.68522C>A	c.(68521-68523)cCa>cAa	p.P22841Q	TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P13776Q|TTN_ENST00000342175.6_Missense_Mutation_p.P13968Q|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P20273Q|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P13901Q|TTN_ENST00000591111.1_Missense_Mutation_p.P21200Q|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586452.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	21200	Ig-like 117.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTTACCAATTGGGTCCAGTGC	0.398000													26	52					9.57634e-11	1.31312e-10	0.003330	1	0
CCDC11	220136	broad.mit.edu	37	18	47753781	47753781	+	Silent	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr18:47753781G>A	ENST00000398545.4	-	8	1632	c.1515C>T	c.(1513-1515)cgC>cgT	p.R505R		NM_145020.3	NP_659457.2	Q96M91	CCD11_HUMAN	coiled-coil domain containing 11	505										endometrium(1)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|pancreas(1)|skin(1)	20				STAD - Stomach adenocarcinoma(97;2.66e-05)|Colorectal(21;7.57e-05)|Lung(128;0.00932)|READ - Rectum adenocarcinoma(32;0.164)		GGCATGCCTTGCGCATGGGAT	0.443000													12	38					0	0	0.000978	0	0
SLC38A8	146167	broad.mit.edu	37	16	84050766	84050766	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr16:84050766G>A	ENST00000299709.3	-	7	931	c.932C>T	c.(931-933)cCc>cTc	p.P311L		NM_001080442.1	NP_001073911.1	A6NNN8	S38A8_HUMAN	solute carrier family 38, member 8	311					amino acid transport|sodium ion transport	integral to membrane		p.P311R(1)		central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						GAGCACGATGGGGTAGACAGT	0.547000													12	18					0	0	0.001368	0	0
CNTN3	5067	broad.mit.edu	37	3	74334455	74334455	+	Splice_Site	SNP	C	C	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr3:74334455C>G	ENST00000263665.6	-	19	2732		c.e19+1			NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)						cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		AATATACTTACGCGTTTTCTT	0.428000													62	48					0	0	0.003610	0	0
RLF	6018	broad.mit.edu	37	1	40702175	40702175	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr1:40702175G>T	ENST00000372771.4	+	8	1828	c.1801G>T	c.(1801-1803)Gtg>Ttg	p.V601L		NM_012421.3	NP_036553.2	Q13129	RLF_HUMAN	rearranged L-myc fusion	601					chromosome organization|DNA integration|DNA mediated transformation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2)	68	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)			TGTTCCTCATGTGATGGAGCA	0.363000													16	31					6.72482e-11	9.26503e-11	0.003163	1	0
EBF1	1879	broad.mit.edu	37	5	158267100	158267100	+	Silent	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr5:158267100G>A	ENST00000313708.6	-	7	855	c.573C>T	c.(571-573)ttC>ttT	p.F191F	EBF1_ENST00000518836.1_5'UTR|EBF1_ENST00000517373.1_Silent_p.F191F|EBF1_ENST00000380654.4_Silent_p.F168F	NM_024007.3	NP_076870.1	Q9UH73	COE1_HUMAN	early B-cell factor 1	191					multicellular organismal development	nucleus	DNA binding|metal ion binding		HMGA2/EBF1(2)	breast(3)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42	Renal(175;0.00196)	Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TACATTTGAGGAAAAATTTCA	0.423000			T	HMGA2	lipoma								22	14					0	0	0.002780	0	0
CPS1	1373	broad.mit.edu	37	2	211523382	211523382	+	Silent	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr2:211523382C>A	ENST00000233072.5	+	31	3922	c.3726C>A	c.(3724-3726)gtC>gtA	p.V1242V	CPS1_ENST00000451903.2_Silent_p.V791V|CPS1_ENST00000430249.2_Silent_p.V1248V	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	1242	ATP-grasp 2.				carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		CATTCAACGTCCAATTTCTTG	0.438000													14	45					1.15088e-07	1.42433e-07	0.004007	1	0
UBQLNL	143630	broad.mit.edu	37	11	5537474	5537474	+	Silent	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr11:5537474C>T	ENST00000380184.1	-	1	461	c.198G>A	c.(196-198)caG>caA	p.Q66Q	HBG2_ENST00000380259.2_Intron	NM_145053.4	NP_659490.4	Q8IYU4	UBQLN_HUMAN	ubiquilin-like	66	Ubiquitin-like.									endometrium(1)|kidney(3)|large_intestine(9)|lung(13)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.136)		GTTGGTCCATCTGGCATTGGA	0.493000													14	28					0	0	0.002450	0	0
CST2	1470	broad.mit.edu	37	20	23804722	23804722	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr20:23804722G>T	ENST00000304725.2	-	3	431	c.361C>A	c.(361-363)Cag>Aag	p.Q121K		NM_001322.2	NP_001313.1	P09228	CYTT_HUMAN	cystatin SA	121						extracellular region	cysteine-type endopeptidase inhibitor activity			breast(1)|cervix(1)|large_intestine(1)|liver(1)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	10						TCGTAGATCTGGAAAGAGCAC	0.517000													17	29					1.67942e-08	2.14255e-08	0.006122	1	0
CDC14B	8555	broad.mit.edu	37	9	99314142	99314142	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr9:99314142C>A	ENST00000375241.1	-	5	884	c.433G>T	c.(433-435)Ggg>Tgg	p.G145W	CDC14B_ENST00000463569.1_Missense_Mutation_p.G145W|CDC14B_ENST00000375242.3_Missense_Mutation_p.G108W|CDC14B_ENST00000375240.3_Missense_Mutation_p.G145W|CDC14B_ENST00000265659.2_Missense_Mutation_p.G145W|CDC14B_ENST00000375236.1_Missense_Mutation_p.G145W	NM_003671.3|NM_033331.2	NP_003662.1|NP_201588.1	O60729	CC14B_HUMAN	cell division cycle 14B	145	A.				activation of anaphase-promoting complex activity|DNA repair|G2/M transition DNA damage checkpoint	nucleolus|nucleoplasm	protein binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)	15		Acute lymphoblastic leukemia(62;0.0559)				GGGGTTCTCCCCAAATATATA	0.328000													30	22					1.16021e-09	1.53563e-09	0.007291	1	0
GP1BA	2811	broad.mit.edu	37	17	4836761	4836761	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr17:4836761G>A	ENST00000329125.5	+	2	937	c.862G>A	c.(862-864)Gac>Aac	p.D288N		NM_000173.5	NP_000164.5	E7ES66	E7ES66_HUMAN	glycoprotein Ib (platelet), alpha polypeptide	288										central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(5)|stomach(1)|urinary_tract(1)	20						TGATGAAGGTGACACAGACCT	0.517000													20	51					0	0	0.001882	0	0
OR2M3	127062	broad.mit.edu	37	1	248366414	248366414	+	Silent	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr1:248366414G>T	ENST00000456743.1	+	1	83	c.45G>T	c.(43-45)ctG>ctT	p.L15L		NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M, member 3	15					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L15L(1)		endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			TCATCCTCCTGGGAATCTTCA	0.463000													52	187					4.09171e-25	7.51877e-25	0.003610	1	0
KHNYN	23351	broad.mit.edu	37	14	24901093	24901093	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr14:24901093G>C	ENST00000251343.5	+	3	765	c.626G>C	c.(625-627)tGg>tCg	p.W209S	KHNYN_ENST00000553935.1_Missense_Mutation_p.W209S|KHNYN_ENST00000556842.1_Missense_Mutation_p.W209S			O15037	KHNYN_HUMAN	KH and NYN domain containing	209										kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(3)	24						CTGGCTTCTTGGGAGGGGCGG	0.642000											OREG0022627	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	26	79					0	0	0.005443	0	0
UVRAG	7405	broad.mit.edu	37	11	75852056	75852056	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr11:75852056G>T	ENST00000356136.3	+	15	1940	c.1699G>T	c.(1699-1701)Gat>Tat	p.D567Y	UVRAG_ENST00000538870.1_Missense_Mutation_p.D123Y|UVRAG_ENST00000528420.1_Missense_Mutation_p.D466Y|UVRAG_ENST00000531818.1_Missense_Mutation_p.D195Y|UVRAG_ENST00000532130.1_Missense_Mutation_p.D195Y|UVRAG_ENST00000533454.1_Missense_Mutation_p.D195Y|UVRAG_ENST00000539288.1_Missense_Mutation_p.D195Y	NM_003369.3	NP_003360.2	Q9P2Y5	UVRAG_HUMAN	UV radiation resistance associated	567					DNA repair|positive regulation of autophagy	early endosome|late endosome|lysosome	protein binding	p.D567Y(1)		central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(15)|skin(5)|urinary_tract(2)	32						AAAAGGAGAGGATCTAGTTGG	0.527000													8	26					0.00448238	0.0047135	0.004482	1	0
PCDHB10	56126	broad.mit.edu	37	5	140572190	140572190	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr5:140572190G>T	ENST00000239446.4	+	1	249	c.65G>T	c.(64-66)gGa>gTa	p.G22V		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN		22					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTTTTTTGGGGAGTGTCCTTG	0.468000													34	54					4.92203e-23	8.82066e-23	0.006230	1	0
UNC93A	54346	broad.mit.edu	37	6	167717444	167717444	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr6:167717444C>A	ENST00000230256.3	+	5	838	c.663C>A	c.(661-663)ttC>ttA	p.F221L	UNC93A_ENST00000366829.2_Missense_Mutation_p.F179L	NM_018974.3	NP_061847.2	Q86WB7	UN93A_HUMAN	unc-93 homolog A (C. elegans)	221						integral to membrane|plasma membrane				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	40		Breast(66;7.62e-05)|Ovarian(120;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		TAGCTGCGTTCCTCCAACCCA	0.507000													17	30					6.94344e-10	9.2155e-10	0.006122	1	0
SLC22A7	10864	broad.mit.edu	37	6	43271936	43271936	+	Missense_Mutation	SNP	A	A	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr6:43271936A>T	ENST00000372585.5	+	10	1641	c.1546A>T	c.(1546-1548)Agg>Tgg	p.R516W	SLC22A7_ENST00000372574.3_Missense_Mutation_p.R514W|SLC22A7_ENST00000372589.3_Missense_Mutation_p.R514W	NM_153320.2	NP_696961.2	Q9Y694	S22A7_HUMAN	solute carrier family 22 (organic anion transporter), member 7	516						basolateral plasma membrane|integral to plasma membrane|membrane fraction	anion:anion antiporter activity|sodium-independent organic anion transmembrane transporter activity			NS(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(3)	26			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305)			GCCAGAGACGAGGCAGGCACA	0.602000													9	190					0	0	0.006214	0	0
IFIT1B	439996	broad.mit.edu	37	10	91143649	91143649	+	Silent	SNP	A	A	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr10:91143649A>G	ENST00000371809.3	+	2	659	c.579A>G	c.(577-579)acA>acG	p.T193T	LIPA_ENST00000371837.1_Intron	NM_001010987.2	NP_001010987.1	Q5T764	IFT1B_HUMAN	interferon-induced protein with tetratricopeptide repeats 1B	193							binding			endometrium(2)|large_intestine(3)|lung(8)	13						AATTTAACACAGCATCAGGGA	0.458000													64	157					0	0	0.003610	0	0
UNC5D	137970	broad.mit.edu	37	8	35453098	35453098	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr8:35453098C>A	ENST00000287272.2	+	4	513	c.493C>A	c.(493-495)Cca>Aca	p.P165T	UNC5D_ENST00000404895.2_Missense_Mutation_p.P165T|UNC5D_ENST00000416672.1_Missense_Mutation_p.P165T|UNC5D_ENST00000453357.2_Missense_Mutation_p.P160T|UNC5D_ENST00000420357.1_Missense_Mutation_p.P165T			Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	165	Ig-like C2-type.				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)		TGAACAAGACCCACAAGGAAG	0.463000													22	53					4.4004e-07	5.31425e-07	0.003330	1	0
POTEG	404785	broad.mit.edu	37	14	19553759	19553759	+	Missense_Mutation	SNP	A	A	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr14:19553759A>T	ENST00000409832.3	+	1	395	c.343A>T	c.(343-345)Agc>Tgc	p.S115C		NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	115										cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						GAGCGGCAAGAGCAAAGTGGG	0.597000													28	406					0	0	0.002445	0	0
COL3A1	1281	broad.mit.edu	37	2	189859297	189859297	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr2:189859297G>C	ENST00000304636.3	+	19	1494	c.1324G>C	c.(1324-1326)Gag>Cag	p.E442Q	COL3A1_ENST00000317840.5_Missense_Mutation_p.E442Q	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	442	Triple-helical region.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding	p.E442*(2)		NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	TGCCAAAGGAGAGCCCGGACC	0.398000													13	55					0	0	0.004007	0	0
EHHADH	1962	broad.mit.edu	37	3	184910364	184910364	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr3:184910364G>C	ENST00000231887.3	-	7	1897	c.1822C>G	c.(1822-1824)Cac>Gac	p.H608D	EHHADH_ENST00000456310.1_Missense_Mutation_p.H512D	NM_001166415.1|NM_001966.3	NP_001159887.1|NP_001957.2	Q08426	ECHP_HUMAN	enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase	608						peroxisome	3-hydroxyacyl-CoA dehydrogenase activity|coenzyme binding|dodecenoyl-CoA delta-isomerase activity|enoyl-CoA hydratase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(2)|skin(3)	24	all_cancers(143;4.04e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.98e-32)|OV - Ovarian serous cystadenocarcinoma(80;5.55e-21)		NADH(DB00157)	GGTTCAATGTGATGGGTTTTT	0.438000													14	145					0	0	0.002450	0	0
DCUN1D1	54165	broad.mit.edu	37	3	182662962	182662962	+	Splice_Site	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr3:182662962C>A	ENST00000292782.4	-	7	854		c.e7-1		DCUN1D1_ENST00000469954.1_Splice_Site	NM_020640.2	NP_065691.2	Q96GG9	DCNL1_HUMAN	DCN1, defective in cullin neddylation 1, domain containing 1							ubiquitin ligase complex	protein binding			endometrium(2)|large_intestine(4)|lung(8)|ovary(1)	15	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		all cancers(12;2.54e-44)|Epithelial(37;4.71e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)			GGCCATGCTCCTGGAAAAAAG	0.373000													48	26					2.24722e-20	3.89231e-20	0.003610	1	0
RALGAPA1	253959	broad.mit.edu	37	14	36159114	36159114	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr14:36159114C>A	ENST00000258840.6	-	18	2893	c.2503G>T	c.(2503-2505)Gag>Tag	p.E835*	RALGAPA1_ENST00000382366.3_Nonsense_Mutation_p.E788*|RALGAPA1_ENST00000389698.3_Nonsense_Mutation_p.E788*|RALGAPA1_ENST00000307138.6_Nonsense_Mutation_p.E788*			Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)	788					activation of Ral GTPase activity	cytosol|mitochondrion|nucleus	protein heterodimerization activity|Ral GTPase activator activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						GGCTGCTCCTCATTCAAAGCA	0.428000													177	43					4.28478e-88	8.45281e-88	0.003610	1	0
MTERFD3	80298	broad.mit.edu	37	12	107371383	107371383	+	Silent	SNP	T	T	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr12:107371383T>C	ENST00000552029.1	-	2	3178	c.1110A>G	c.(1108-1110)aaA>aaG	p.K370K	MTERFD3_ENST00000240050.4_Silent_p.K370K|MTERFD3_ENST00000392830.2_Silent_p.K370K|C12orf23_ENST00000551237.1_Intron			Q49AM1	MTER3_HUMAN	MTERF domain containing 3	370					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial nucleoid	transcription regulatory region DNA binding			breast(1)|kidney(1)|large_intestine(2)|lung(3)	7						ATGGCCTTACTTTTTTGGCCT	0.373000													12	72					0	0	0.001368	0	0
PSG4	5672	broad.mit.edu	37	19	43702187	43702187	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr19:43702187C>T	ENST00000405312.3	-	3	908	c.671G>A	c.(670-672)aGt>aAt	p.S224N	PSG4_ENST00000244295.9_Missense_Mutation_p.S224N|PSG4_ENST00000433626.2_Intron	NM_002780.3	NP_002771.2	Q00888	PSG4_HUMAN	pregnancy specific beta-1-glycoprotein 4	224	Ig-like C2-type 1.				defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24		Prostate(69;0.00682)				GCGGCTGGCACTCACTGGGTT	0.517000													67	136					0	0	0.003610	0	0
PCDH11X	27328	broad.mit.edu	37	X	91131909	91131909	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chrX:91131909G>C	ENST00000373094.1	+	2	1515	c.670G>C	c.(670-672)Ggt>Cgt	p.G224R	PCDH11X_ENST00000298274.8_Missense_Mutation_p.G224R|PCDH11X_ENST00000504220.1_Missense_Mutation_p.G224R|PCDH11X_ENST00000406881.1_Missense_Mutation_p.G224R|PCDH11X_ENST00000373097.1_Missense_Mutation_p.G224R|PCDH11X_ENST00000361724.1_Missense_Mutation_p.G224R|PCDH11X_ENST00000395337.2_Missense_Mutation_p.G224R|PCDH11X_ENST00000373088.1_Missense_Mutation_p.G224R|PCDH11X_ENST00000361655.2_Missense_Mutation_p.G224R	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	224	Cadherin 2.				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						GGTTGAAGATGGTGGCTTTCC	0.413000													40	118					0	0	0.008740	0	0
DOCK8	81704	broad.mit.edu	37	9	421071	421071	+	Silent	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr9:421071G>T	ENST00000432829.2	+	32	4258	c.3942G>T	c.(3940-3942)cgG>cgT	p.R1314R	DOCK8_ENST00000453981.1_Silent_p.R1382R|DOCK8_ENST00000382329.1_Silent_p.R849R|DOCK8_ENST00000469391.1_Silent_p.R1282R|DOCK8_ENST00000493666.2_3'UTR	NM_203447.3	NP_982272.2	Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	1382	DHR-2.				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		TGCGCCGCCGGGCTCCAGGTG	0.572000													64	17					3.58576e-35	6.84985e-35	0.003610	1	0
MTERFD3	80298	broad.mit.edu	37	12	107371394	107371394	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr12:107371394G>C	ENST00000552029.1	-	2	3167	c.1099C>G	c.(1099-1101)Cag>Gag	p.Q367E	MTERFD3_ENST00000240050.4_Missense_Mutation_p.Q367E|MTERFD3_ENST00000392830.2_Missense_Mutation_p.Q367E|C12orf23_ENST00000551237.1_Intron			Q49AM1	MTER3_HUMAN	MTERF domain containing 3	367					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial nucleoid	transcription regulatory region DNA binding			breast(1)|kidney(1)|large_intestine(2)|lung(3)	7						TTTTTGGCCTGAATTTTGCCA	0.373000													12	76					0	0	0.001368	0	0
NHSL2	340527	broad.mit.edu	37	X	71360053	71360053	+	Silent	SNP	C	C	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chrX:71360053C>G	ENST00000373677.1	+	2	2819	c.1557C>G	c.(1555-1557)gtC>gtG	p.V519V	NHSL2_ENST00000510661.1_Silent_p.V654V|NHSL2_ENST00000540800.1_Silent_p.V885V|NHSL2_ENST00000535692.1_Silent_p.V519V			F5H593	F5H593_HUMAN	NHS-like 2	885										NS(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(10)|lung(7)|stomach(1)	28	Renal(35;0.156)					CAAGCTTGGTCCACAAGCCAC	0.552000													8	33					0	0	0.004482	0	0
NBAS	51594	broad.mit.edu	37	2	15496434	15496434	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr2:15496434C>T	ENST00000281513.5	-	33	3949	c.3924G>A	c.(3922-3924)atG>atA	p.M1308I	NBAS_ENST00000441750.1_Missense_Mutation_p.M1188I	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	1308										NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						CACCTGTGGCCATCAGCTCCT	0.448000													14	51					0	0	0.003163	0	0
KCNH3	23416	broad.mit.edu	37	12	49937805	49937805	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr12:49937805G>A	ENST00000257981.6	+	6	1191	c.931G>A	c.(931-933)Gtc>Atc	p.V311I		NM_012284.1	NP_036416.1	Q9ULD8	KCNH3_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 3	311					regulation of transcription, DNA-dependent	integral to membrane	two-component sensor activity|voltage-gated potassium channel activity			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36						CCTGCTGGATGTCATCGCAGC	0.597000													44	96					0	0	0.003610	0	0
TTC29	83894	broad.mit.edu	37	4	147796051	147796051	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr4:147796051C>A	ENST00000513335.1	-	8	893	c.694G>T	c.(694-696)Gaa>Taa	p.E232*	TTC29_ENST00000325106.4_Nonsense_Mutation_p.E206*|TTC29_ENST00000398886.4_Nonsense_Mutation_p.E232*			Q8NA56	TTC29_HUMAN	tetratricopeptide repeat domain 29	206							binding	p.E206K(2)		breast(2)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	26	all_hematologic(180;0.151)					TGGAATGCTTCATAATGCTCA	0.448000													21	10					3.83957e-06	4.46921e-06	0.002780	1	0
SPTA1	6708	broad.mit.edu	37	1	158613134	158613134	+	Silent	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr1:158613134G>T	ENST00000368148.3	-	31	4600	c.4420C>A	c.(4420-4422)Cgg>Agg	p.R1474R	SPTA1_ENST00000368147.3_Silent_p.R1474R	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	1474					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CGTTGGAGCCGCGTAGCAATC	0.438000													10	29					2.17888e-05	2.47646e-05	0.006214	1	0
BTNL2	56244	broad.mit.edu	37	6	32363858	32363858	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr6:32363858C>T	ENST00000454136.3	-	5	1040	c.1036G>A	c.(1036-1038)Gat>Aat	p.D346N	BTNL2_ENST00000374993.1_Missense_Mutation_p.D346N|BTNL2_ENST00000544175.1_Missense_Mutation_p.D69N|BTNL2_ENST00000429232.2_Missense_Mutation_p.D253N|BTNL2_ENST00000414363.1_Missense_Mutation_p.D136N|BTNL2_ENST00000374995.3_Missense_Mutation_p.D252N|BTNL2_ENST00000540315.1_Missense_Mutation_p.D136N			Q9UIR0	BTNL2_HUMAN	butyrophilin-like 2 (MHC class II associated)	346	Ig-like V-type 3.					integral to membrane				central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)|urinary_tract(1)	19						TAGACATCATCTTTTTCAAAA	0.473000													13	95					0	0	0.002450	0	0
CHM	1121	broad.mit.edu	37	X	85128136	85128136	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chrX:85128136C>A	ENST00000357749.2	-	14	1720	c.1691G>T	c.(1690-1692)tGt>tTt	p.C564F	CHM_ENST00000537751.1_Missense_Mutation_p.C416F|CHM_ENST00000467744.1_Intron	NM_000390.2	NP_000381.1	P24386	RAE1_HUMAN	choroideremia (Rab escort protein 1)	564					intracellular protein transport|protein geranylgeranylation|response to stimulus|visual perception	Rab-protein geranylgeranyltransferase complex	GTPase activator activity|Rab geranylgeranyltransferase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|prostate(1)	20		all_lung(315;5.41e-06)				ATCATTATAACAGCTCCTGCT	0.368000													7	26					0.000442599	0.000481144	0.006214	1	0
UBE2A	7319	broad.mit.edu	37	X	118717179	118717179	+	Silent	SNP	T	T	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chrX:118717179T>A	ENST00000371569.5	+	3	1441	c.195T>A	c.(193-195)cgT>cgA	p.R65R	UBE2A_ENST00000346330.3_Silent_p.R110R|UBE2A_ENST00000371558.2_Silent_p.R140R	NM_181777.1	NP_861442.1	P49459	UBE2A_HUMAN	ubiquitin-conjugating enzyme E2A	140					histone H2A ubiquitination|positive regulation of cell proliferation|postreplication repair|protein autoubiquitination|protein K11-linked ubiquitination|protein K48-linked ubiquitination|response to UV|ubiquitin-dependent protein catabolic process		ATP binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity			haematopoietic_and_lymphoid_tissue(1)|lung(7)	8						ATGAAAAGCGTGTTTCTGCAA	0.438000								Rad6 pathway					26	85					0	0	0.006320	0	0
LHX2	9355	broad.mit.edu	37	9	126794863	126794863	+	Silent	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr9:126794863C>A	ENST00000373615.4	+	5	1837	c.1098C>A	c.(1096-1098)acC>acA	p.T366T		NM_004789.3	NP_004780.3	P50458	LHX2_HUMAN	LIM homeobox 2	366						nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)	10						CGCCCACCACCCTGACAGACT	0.647000													13	13					2.27111e-07	2.77282e-07	0.001368	1	0
FAM86B3P	286042	broad.mit.edu	37	8	8095990	8095990	+	RNA	SNP	C	C	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr8:8095990C>G	ENST00000523017.1	-	0	608																											CCAGGAGCCCCGAGACCTGCA	0.647000													3	3					0	0	0.004672	0	0
TRMT6	51605	broad.mit.edu	37	20	5922665	5922665	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr20:5922665C>A	ENST00000203001.2	-	8	1174	c.1044G>T	c.(1042-1044)agG>agT	p.R348S	TRMT6_ENST00000453074.2_Missense_Mutation_p.R178S|TRMT6_ENST00000473131.1_5'UTR	NM_015939.3	NP_057023.2	Q9UJA5	TRM6_HUMAN	tRNA methyltransferase 6 homolog (S. cerevisiae)	348					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						CTTCTTGTCTCCTCTGTTTTT	0.428000													39	68					1.465e-08	1.88562e-08	0.008740	1	0
HADHA	3030	broad.mit.edu	37	2	26457193	26457193	+	Silent	SNP	T	T	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr2:26457193T>C	ENST00000380649.3	-	5	474	c.345A>G	c.(343-345)gaA>gaG	p.E115E	HADHA_ENST00000457468.2_Silent_p.E28E|HADHA_ENST00000461025.1_5'UTR	NM_000182.4	NP_000173.2	P40939	ECHA_HUMAN	hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit	115					fatty acid beta-oxidation	fatty acid beta-oxidation multienzyme complex|mitochondrial nucleoid|nucleolus	3-hydroxyacyl-CoA dehydrogenase activity|acetyl-CoA C-acetyltransferase activity|coenzyme binding|enoyl-CoA hydratase activity|long-chain-3-hydroxyacyl-CoA dehydrogenase activity|protein binding			autonomic_ganglia(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(4)|skin(1)	30	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				NADH(DB00157)	GCTGTGTTACTTCTTGAAGGG	0.388000													25	69					0	0	0.007291	0	0
MYO3A	53904	broad.mit.edu	37	10	26446271	26446271	+	Silent	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr10:26446271G>T	ENST00000265944.5	+	26	2992	c.2826G>T	c.(2824-2826)gtG>gtT	p.V942V	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	942	Myosin head-like.				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						CTAAAATGGTGGTGGGCCAAC	0.393000													18	12					8.10497e-08	1.0126e-07	0.010504	1	0
NMT1	4836	broad.mit.edu	37	17	43175843	43175843	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr17:43175843G>T	ENST00000592782.1	+	8	938	c.807G>T	c.(805-807)agG>agT	p.R269S	NMT1_ENST00000258960.2_Missense_Mutation_p.R269S			P30419	NMT1_HUMAN	N-myristoyltransferase 1	269					activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals|N-terminal protein myristoylation|protein lipoylation	actin cytoskeleton|cell junction|cytosol	glycylpeptide N-tetradecanoyltransferase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)	8		Prostate(33;0.155)				AGATCACCAGGCGGGTTCACC	0.527000													51	81					3.76525e-18	6.24522e-18	0.003610	1	0
COL22A1	169044	broad.mit.edu	37	8	139791781	139791781	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr8:139791781G>T	ENST00000303045.6	-	14	2121	c.1675C>A	c.(1675-1677)Ccg>Acg	p.P559T	COL22A1_ENST00000435777.1_Missense_Mutation_p.P559T	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	559	Collagen-like 2.|Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			GGCAGCCCCGGCTCTCCCAGC	0.607000										HNSCC(7;0.00092)			27	27					8.16721e-17	1.31694e-16	0.002096	1	0
OR2T2	401992	broad.mit.edu	37	1	248616317	248616317	+	Silent	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr1:248616317C>A	ENST00000342927.3	+	1	241	c.219C>A	c.(217-219)atC>atA	p.I73I		NM_001004136.1	NP_001004136.1	Q6IF00	OR2T2_HUMAN	olfactory receptor, family 2, subfamily T, member 2	73					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	37	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TGGATACCATCTACATCTGTA	0.512000													11	113					6.44725e-10	8.58843e-10	0.002299	1	0
RPS6KA4	8986	broad.mit.edu	37	11	64135651	64135651	+	Silent	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr11:64135651G>T	ENST00000528057.1	+	10	1207	c.1119G>T	c.(1117-1119)gcG>gcT	p.A373A	RPS6KA4_ENST00000294261.4_Intron|RPS6KA4_ENST00000334205.4_Silent_p.A373A	NM_001006944.1	NP_001006945.1	O75676	KS6A4_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 4	373					axon guidance|histone phosphorylation|interleukin-1-mediated signaling pathway|intracellular protein kinase cascade|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|magnesium ion binding|mitogen-activated protein kinase p38 binding|ribosomal protein S6 kinase activity			breast(1)|endometrium(3)|lung(7)|ovary(1)|prostate(1)	13						ACAACAACGCGGTGATGACCG	0.667000													17	54					1.67942e-08	2.14255e-08	0.006122	1	0
RAD51AP1	10635	broad.mit.edu	37	12	4657984	4657984	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr12:4657984G>C	ENST00000228843.9	+	7	639	c.589G>C	c.(589-591)Gaa>Caa	p.E197Q	RAD51AP1_ENST00000544927.1_Missense_Mutation_p.E180Q|RAD51AP1_ENST00000543041.1_Missense_Mutation_p.E62Q|RAD51AP1_ENST00000352618.4_Missense_Mutation_p.E180Q|RAD51AP1_ENST00000321524.7_Missense_Mutation_p.E197Q	NM_001130862.1	NP_001124334.1	Q96B01	R51A1_HUMAN	RAD51 associated protein 1	197					double-strand break repair via homologous recombination		double-stranded DNA binding|protein binding|RNA binding|single-stranded DNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)	13			Colorectal(7;0.00306)|COAD - Colon adenocarcinoma(12;0.0389)			TAATGACACTGAACCAGACTT	0.408000													38	50					0	0	0.006230	0	0
RADIL	55698	broad.mit.edu	37	7	4856904	4856904	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr7:4856904T>A	ENST00000399583.3	-	7	1881	c.1694A>T	c.(1693-1695)tAc>tTc	p.Y565F	RADIL_ENST00000538469.1_Missense_Mutation_p.Y325F|RADIL_ENST00000536091.1_Silent_p.V511V	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN	Ras association and DIL domains	565	Dilute.				cell adhesion|multicellular organismal development|signal transduction		protein binding			NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		CTGGAAGGCGTACAGCACCAC	0.632000													35	12					0	0	0.002852	0	0
PKHD1	5314	broad.mit.edu	37	6	51927327	51927327	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr6:51927327G>T	ENST00000371117.3	-	14	1383	c.1108C>A	c.(1108-1110)Caa>Aaa	p.Q370K	PKHD1_ENST00000340994.4_Missense_Mutation_p.Q370K	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	370					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					CTGAAAGGTTGTCCTTCCTGT	0.488000													29	97					5.45727e-16	8.68365e-16	0.008361	1	0
IL21R	50615	broad.mit.edu	37	16	27455949	27455949	+	Silent	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr16:27455949G>A	ENST00000337929.3	+	6	1067	c.594G>A	c.(592-594)ctG>ctA	p.L198L	IL21R_ENST00000395755.1_Silent_p.L198L|IL21R_ENST00000395754.4_Silent_p.L198L|IL21R_ENST00000564583.1_3'UTR|IL21R_ENST00000564089.1_Silent_p.L198L	NM_181078.2	NP_851564.1	Q9HBE5	IL21R_HUMAN	interleukin 21 receptor	198	Fibronectin type-III.				natural killer cell activation	integral to membrane	interleukin-21 receptor activity			breast(2)|large_intestine(3)|lung(1)|ovary(2)	8						GCTATGAGCTGCAGGTGCGGG	0.592000			T	BCL6	NHL								51	35					0	0	0.003610	0	0
ABCC6	368	broad.mit.edu	37	16	16297269	16297269	+	Silent	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr16:16297269G>A	ENST00000205557.7	-	8	1025	c.996C>T	c.(994-996)ctC>ctT	p.L332L	ABCC6_ENST00000574094.1_5'UTR	NM_001171.5	NP_001162.4	O95255	MRP6_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 6	332	ABC transmembrane type-1 1.				response to drug|visual perception	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)		GGACTCACCTGAGCAGCTTGG	0.577000													10	25					0	0	0.000978	0	0
DOCK7	85440	broad.mit.edu	37	1	63001286	63001286	+	Silent	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr1:63001286C>A	ENST00000251157.5	-	29	3522	c.3489G>T	c.(3487-3489)acG>acT	p.T1163T	DOCK7_ENST00000340370.5_Silent_p.T1132T	NM_001271999.1	NP_001258928.1	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	1163					activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						CTTGTACATTCGTAGAAAATC	0.398000													13	22					0.00498961	0.00523547	0.004990	1	0
SMARCA2	6595	broad.mit.edu	37	9	2110400	2110400	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr9:2110400G>A	ENST00000382203.1	+	24	3648	c.3439G>A	c.(3439-3441)Gac>Aac	p.D1147N	SMARCA2_ENST00000349721.2_Missense_Mutation_p.D1147N|SMARCA2_ENST00000357248.2_Missense_Mutation_p.D1147N|SMARCA2_ENST00000382194.1_Missense_Mutation_p.D1147N			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	1147	Helicase C-terminal.				chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		CTTTGACAGCGACTGGAATCC	0.483000													12	10					0	0	0.001855	0	0
BLOC1S3	388552	broad.mit.edu	37	19	45683049	45683049	+	Silent	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr19:45683049G>T	ENST00000433642.2	+	2	591	c.495G>T	c.(493-495)ggG>ggT	p.G165G	BLOC1S3_ENST00000587722.1_Silent_p.G165G	NM_212550.3	NP_997715.1	Q6QNY0	BL1S3_HUMAN	biogenesis of lysosomal organelles complex-1, subunit 3	165					cellular membrane organization|eye development|melanosome organization|platelet activation|platelet dense granule organization|post-Golgi vesicle-mediated transport	BLOC-1 complex	identical protein binding			ovary(1)|skin(1)	2		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00863)|GBM - Glioblastoma multiforme(486;0.231)		TGGCGCGCGGGGACCTTTGTG	0.761000									Hermansky-Pudlak syndrome				11	5					3.86212e-05	4.34189e-05	0.008291	1	0
ROBO1	6091	broad.mit.edu	37	3	78656106	78656106	+	Silent	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr3:78656106C>T	ENST00000436010.2	-	27	5401	c.4404G>A	c.(4402-4404)gtG>gtA	p.V1468V	ROBO1_ENST00000495273.1_Silent_p.V1462V|ROBO1_ENST00000464233.1_Silent_p.V1507V|ROBO1_ENST00000466906.1_5'UTR|ROBO1_ENST00000467549.1_Silent_p.V1407V			Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	1507					activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		GTTTTGGCACCACTACAGGTC	0.473000													52	41					0	0	0.003610	0	0
EMID1	129080	broad.mit.edu	37	22	29628272	29628272	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr22:29628272G>T	ENST00000334018.6	+	8	892	c.704G>T	c.(703-705)gGc>gTc	p.G235V	EMID1_ENST00000484039.1_3'UTR|EMID1_ENST00000404755.3_Missense_Mutation_p.G235V|EMID1_ENST00000404820.3_Missense_Mutation_p.G235V	NM_001267895.1|NM_133455.3	NP_001254824.1|NP_597712.2	Q96A84	EMID1_HUMAN	EMI domain containing 1	233	Collagen-like.					collagen				NS(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(2)|skin(3)	12						GGGAGCCCTGGCCGGGCTGGA	0.697000													20	47					7.87624e-14	1.188e-13	0.002780	1	0
MIR381HG	378881	broad.mit.edu	37	14	101512838	101512838	+	RNA	SNP	G	G	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr14:101512838G>C	ENST00000553692.1	+	0	28				MIR487B_ENST00000385021.1_RNA																							TTTTGCTCATGTCGAATCGTA	0.478000													6	31					0	0	0.001168	0	0
CALCR	799	broad.mit.edu	37	7	93067545	93067545	+	Silent	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr7:93067545G>T	ENST00000359558.2	-	12	1241	c.942C>A	c.(940-942)acC>acA	p.T314T	CALCR_ENST00000394441.1_Silent_p.T280T|CALCR_ENST00000360249.4_Silent_p.T296T|CALCR_ENST00000421592.1_Silent_p.T296T|CALCR_ENST00000426151.1_Silent_p.T280T	NM_001164737.1	NP_001158209.1	P30988	CALCR_HUMAN	calcitonin receptor	296					activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus	integral to plasma membrane	calcitonin binding|calcitonin receptor activity|protein binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Salmon Calcitonin(DB00017)	ACACGGCCCTGGTAATAGCAT	0.383000													313	40					3.91224e-161	7.74955e-161	0.003610	1	0
KRTAP9-2	83899	broad.mit.edu	37	17	39383169	39383169	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr17:39383169C>A	ENST00000377721.3	+	1	270	c.263C>A	c.(262-264)cCc>cAc	p.P88H	KRTAP9-2_ENST00000455970.2_Splice_Site_p.P72_splice	NM_031961.2	NP_114167.2	Q9BYQ4	KRA92_HUMAN	keratin associated protein 9-2	88	17 X 5 AA repeats of C-C-[RQVSGE]-[SPTQ]- [TASP].					keratin filament	protein binding			large_intestine(1)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	11		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			TGCTGCCAGCCCACCTGCTGT	0.617000													41	48					4.64027e-19	7.8678e-19	0.003610	1	0
RGPD4	285190	broad.mit.edu	37	2	108499164	108499164	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr2:108499164C>A	ENST00000408999.3	+	22	5178	c.5101C>A	c.(5101-5103)Caa>Aaa	p.Q1701K	RGPD4_ENST00000354986.4_Missense_Mutation_p.Q1701K	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	1701					intracellular transport		binding			breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						GGAAAGGAATCAAGAGCAAGA	0.408000													25	101					2.44723e-14	3.74587e-14	0.004656	1	0
COL20A1	57642	broad.mit.edu	37	20	61945462	61945462	+	Silent	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr20:61945462C>A	ENST00000422202.1	+	18	2486	c.2418C>A	c.(2416-2418)ccC>ccA	p.P806P	COL20A1_ENST00000326996.6_Silent_p.P799P|COL20A1_ENST00000358894.6_Silent_p.P799P|COL20A1_ENST00000435874.1_Silent_p.P806P			Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	799	Fibronectin type-III 6.				cell adhesion	collagen|extracellular space	structural molecule activity			NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					TGACACTGCCCGACCTGCAGG	0.637000													6	16					0.00116845	0.00125327	0.001168	1	0
GPR124	25960	broad.mit.edu	37	8	37693152	37693152	+	Silent	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr8:37693152C>A	ENST00000412232.2	+	13	1927	c.1914C>A	c.(1912-1914)ccC>ccA	p.P638P	GPR124_ENST00000315215.7_Intron	NM_032777.9	NP_116166.9	Q96PE1	GP124_HUMAN	G protein-coupled receptor 124	638					central nervous system development|endothelial cell migration|neuropeptide signaling pathway|regulation of angiogenesis|regulation of chemotaxis|sprouting angiogenesis	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37			BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			CCCCGGTGCCCCCAGACTGCA	0.667000													51	69					4.1673e-28	7.78614e-28	0.003610	1	0
TCF4	6925	broad.mit.edu	37	18	52896251	52896251	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr18:52896251C>T	ENST00000354452.3	-	18	2317	c.1706G>A	c.(1705-1707)cGg>cAg	p.R569Q	TCF4_ENST00000570287.2_Missense_Mutation_p.R405Q|TCF4_ENST00000457482.3_Missense_Mutation_p.R409Q|TCF4_ENST00000564999.1_Missense_Mutation_p.R565Q|TCF4_ENST00000565018.2_Missense_Mutation_p.R569Q|TCF4_ENST00000544241.2_Missense_Mutation_p.R498Q|TCF4_ENST00000398339.1_Missense_Mutation_p.R671Q|TCF4_ENST00000567880.1_Missense_Mutation_p.R505Q|TCF4_ENST00000570177.2_Missense_Mutation_p.R435Q|TCF4_ENST00000561992.1_Missense_Mutation_p.R435Q|TCF4_ENST00000543082.1_Missense_Mutation_p.R523Q|TCF4_ENST00000566286.1_Missense_Mutation_p.R562Q|TCF4_ENST00000566279.1_Missense_Mutation_p.R509Q|TCF4_ENST00000540999.1_Missense_Mutation_p.R541Q|TCF4_ENST00000537578.1_Missense_Mutation_p.R545Q|TCF4_ENST00000561831.3_Missense_Mutation_p.R405Q|TCF4_ENST00000568740.1_Missense_Mutation_p.R540Q|TCF4_ENST00000568673.1_Missense_Mutation_p.R545Q|TCF4_ENST00000537856.3_Missense_Mutation_p.R435Q|TCF4_ENST00000564228.1_Missense_Mutation_p.R494Q|TCF4_ENST00000564403.2_Missense_Mutation_p.R575Q|TCF4_ENST00000356073.4_Missense_Mutation_p.R565Q	NM_001083962.1	NP_001077431.1	P15884	ITF2_HUMAN	transcription factor 4	565					positive regulation of neuron differentiation|protein-DNA complex assembly|transcription initiation from RNA polymerase II promoter	transcription factor complex	E-box binding|protein C-terminus binding|protein heterodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity|TFIIB-class binding transcription factor activity|TFIIB-class transcription factor binding			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	41				Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718)		GGCCATCCTCCGCTCCTTCTC	0.552000													34	84					0	0	0.003214	0	0
ZNF250	58500	broad.mit.edu	37	8	146107404	146107404	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr8:146107404C>A	ENST00000292579.7	-	6	1295	c.1179G>T	c.(1177-1179)aaG>aaT	p.K393N	ZNF250_ENST00000417550.2_Missense_Mutation_p.K388N|ZNF250_ENST00000342660.6_Intron|ZNF250_ENST00000543949.1_Intron	NM_001109689.3|NM_021061.4	NP_001103159.1|NP_066405.1	P15622	ZN250_HUMAN	zinc finger protein 250	393					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(2)|lung(8)|skin(1)	15	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;2.53e-38)|OV - Ovarian serous cystadenocarcinoma(54;4.07e-38)|all cancers(56;2.27e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.0654)		ACTCATAGGGCTTCTCCCCGG	0.592000													9	47					1.76689e-08	2.24821e-08	0.006214	1	0
OR4C16	219428	broad.mit.edu	37	11	55340052	55340052	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr11:55340052C>A	ENST00000314634.3	+	1	449	c.449C>A	c.(448-450)tCc>tAc	p.S150Y		NM_001004701.2	NP_001004701.2	Q8NGL9	OR4CG_HUMAN	olfactory receptor, family 4, subfamily C, member 16 (gene/pseudogene)	150					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41		all_epithelial(135;0.0748)				TGGGTGGGATCCTGTGTGCAT	0.498000													26	64					4.26978e-12	6.07332e-12	0.003330	1	0
ITGA7	3679	broad.mit.edu	37	12	56096669	56096669	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr12:56096669C>A	ENST00000257880.7	-	3	620	c.401G>T	c.(400-402)gGg>gTg	p.G134V	ITGA7_ENST00000394229.2_Missense_Mutation_p.G134V|ITGA7_ENST00000394230.2_Missense_Mutation_p.G134V|ITGA7_ENST00000347027.6_Missense_Mutation_p.G134V|ITGA7_ENST00000555728.1_Missense_Mutation_p.G134V|ITGA7_ENST00000257879.6_Missense_Mutation_p.G134V|ITGA7_ENST00000452168.2_Intron|ITGA7_ENST00000553804.1_Missense_Mutation_p.G134V			Q13683	ITA7_HUMAN	integrin, alpha 7	134					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						AATCTTGCCCCCAGGCCCCTG	0.512000													25	47					1.26454e-06	1.5021e-06	0.005443	1	0
OR2T1	26696	broad.mit.edu	37	1	248569867	248569867	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr1:248569867G>T	ENST00000366474.1	+	1	572	c.572G>T	c.(571-573)tGt>tTt	p.C191F		NM_030904.1	NP_112166.1	O43869	OR2T1_HUMAN	olfactory receptor, family 2, subfamily T, member 1	191					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	39	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CGCCGGGTCTGTTGGATGATT	0.547000													51	41					6.9144e-35	1.31911e-34	0.003610	1	0
PIK3C2G	5288	broad.mit.edu	37	12	18650569	18650569	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr12:18650569G>T	ENST00000433979.1	+	21	2896	c.2780G>T	c.(2779-2781)cGt>cTt	p.R927L	PIK3C2G_ENST00000538779.1_Missense_Mutation_p.R968L|PIK3C2G_ENST00000266497.5_Missense_Mutation_p.R927L	NM_004570.4	NP_004561.3	O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	927	PI3K/PI4K.				cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				GATGATCTTCGTCAGGATATG	0.363000													15	29					5.3912e-06	6.23519e-06	0.006122	1	0
SHOX2	6474	broad.mit.edu	37	3	157815970	157815970	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr3:157815970G>T	ENST00000490689.2	-	5	1952	c.419C>A	c.(418-420)cCc>cAc	p.P140H	SHOX2_ENST00000483851.2_Missense_Mutation_p.P269H|SHOX2_ENST00000441443.2_Missense_Mutation_p.P140H|SHOX2_ENST00000425436.3_Missense_Mutation_p.P281H|SHOX2_ENST00000389589.4_Missense_Mutation_p.P305H			O60902	SHOX2_HUMAN	short stature homeobox 2	281					nervous system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(10)|skin(3)|upper_aerodigestive_tract(1)	20			Lung(72;0.00318)|LUSC - Lung squamous cell carcinoma(72;0.0043)			CAGTCCGAAGGGCGGTGCTGG	0.711000													71	54					2.32817e-41	4.51297e-41	0.003610	1	0
PRG4	10216	broad.mit.edu	37	1	186276708	186276708	+	Silent	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr1:186276708C>A	ENST00000445192.2	+	7	1902	c.1857C>A	c.(1855-1857)acC>acA	p.T619T	PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367483.4_Silent_p.T578T|PRG4_ENST00000367486.3_Silent_p.T576T|PRG4_ENST00000367485.4_Silent_p.T526T	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	619	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CTGCACCCACCACCCCCAAGA	0.667000													26	22					0.000147802	0.000163622	0.006320	1	0
ABCG4	64137	broad.mit.edu	37	11	119027100	119027100	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr11:119027100G>A	ENST00000307417.3	+	7	1112	c.748G>A	c.(748-750)Ggc>Agc	p.G250S	ABCG4_ENST00000531739.1_Missense_Mutation_p.G250S|ABCG4_ENST00000449422.2_Missense_Mutation_p.G250S	NM_022169.4	NP_071452.2	Q9H172	ABCG4_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 4	250	ABC transporter.				cholesterol efflux	integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(28)|ovary(2)|prostate(1)|skin(1)	44	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		GGCACAGGGGGGCCGTACCAT	0.587000													43	103					0	0	0.008740	0	0
SCN3A	6328	broad.mit.edu	37	2	165956881	165956881	+	Silent	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr2:165956881G>T	ENST00000360093.3	-	22	4388	c.3897C>A	c.(3895-3897)gcC>gcA	p.A1299A	SCN3A_ENST00000283254.7_Silent_p.A1299A|SCN3A_ENST00000409101.3_Silent_p.A1250A	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	1299						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	ATGATTTGATGGCACCGAGTT	0.383000													18	83					8.00594e-06	9.22243e-06	0.007413	1	0
NCOR2	9612	broad.mit.edu	37	12	124934381	124934381	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr12:124934381C>A	ENST00000356219.3	-	8	950	c.795G>T	c.(793-795)caG>caT	p.Q265H	NCOR2_ENST00000429285.2_Missense_Mutation_p.Q265H|NCOR2_ENST00000404121.2_5'UTR|NCOR2_ENST00000397355.1_Missense_Mutation_p.Q265H|NCOR2_ENST00000405201.1_Missense_Mutation_p.Q265H|NCOR2_ENST00000404621.1_Missense_Mutation_p.Q265H	NM_006312.5	NP_006303.4	Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	265	Interaction with SIN3A/B (By similarity).				cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		TCTCATGATACTGCCGGGTGT	0.612000													12	43					1.5842e-08	2.03002e-08	0.001855	1	0
OR4P4	81300	broad.mit.edu	37	11	55406058	55406058	+	Silent	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr11:55406058G>A	ENST00000314612.2	+	1	225	c.225G>A	c.(223-225)gtG>gtA	p.V75V		NM_001004124.1	NP_001004124.1	Q8NGL7	OR4P4_HUMAN	olfactory receptor, family 4, subfamily P, member 4	75					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1)	40						CATCCACAGTGACCCCCAAAT	0.408000													20	80					0	0	0.008871	0	0
MCEE	84693	broad.mit.edu	37	2	71337190	71337190	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr2:71337190T>A	ENST00000244217.5	-	3	458	c.441A>T	c.(439-441)gaA>gaT	p.E147D	MCEE_ENST00000462609.2_5'UTR	NM_032601.3	NP_115990.3	Q96PE7	MCEE_HUMAN	methylmalonyl CoA epimerase	147					fatty acid beta-oxidation|L-methylmalonyl-CoA metabolic process	mitochondrial matrix	methylmalonyl-CoA epimerase activity			kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9						TTTTGACCTCTTCACTTAGAC	0.373000													10	97					0	0	0.001368	0	0
IFT122	55764	broad.mit.edu	37	3	129195286	129195286	+	Silent	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr3:129195286G>T	ENST00000296266.3	+	11	1290	c.1098G>T	c.(1096-1098)ggG>ggT	p.G366G	IFT122_ENST00000347300.2_Silent_p.G256G|IFT122_ENST00000431818.2_Silent_p.G165G|IFT122_ENST00000507564.1_Silent_p.G307G|IFT122_ENST00000504021.1_Silent_p.G209G|IFT122_ENST00000440957.2_Silent_p.G106G|IFT122_ENST00000349441.2_Silent_p.G204G|IFT122_ENST00000348417.2_Silent_p.G315G	NM_052985.2	NP_443711.2	Q9HBG6	IF122_HUMAN	intraflagellar transport 122 homolog (Chlamydomonas)	315					camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure	microtubule basal body|photoreceptor connecting cilium				breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						TGCGGCTTGGGACTGTTGGGG	0.507000													20	98					1.22574e-08	1.57906e-08	0.002299	1	0
FLG	2312	broad.mit.edu	37	1	152287816	152287816	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr1:152287816C>G	ENST00000368799.1	-	2	152	c.117G>C	c.(115-117)aaG>aaC	p.K39N	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	39	EF-hand 1.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.K39N(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCCGAAATTCCTTTTCCAGAA	0.328000									Ichthyosis				28	144					0	0	0.003755	0	0
ZNF565	147929	broad.mit.edu	37	19	36673763	36673763	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr19:36673763C>A	ENST00000355114.5	-	5	1951	c.1225G>T	c.(1225-1227)Ggg>Tgg	p.G409W	ZNF565_ENST00000392173.2_Missense_Mutation_p.G369W|ZNF565_ENST00000304116.5_Missense_Mutation_p.G369W			Q8N9K5	ZN565_HUMAN	zinc finger protein 565	369					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(4)|lung(4)|ovary(1)|skin(2)	11	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.206)			AAGGCCTTCCCACATTCCTTA	0.488000													20	48					5.26018e-13	7.70145e-13	0.001882	1	0
STXBP5	134957	broad.mit.edu	37	6	147684481	147684481	+	Silent	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr6:147684481G>A	ENST00000367481.3	+	22	2556	c.2448G>A	c.(2446-2448)ttG>ttA	p.L816L	STXBP5_ENST00000321680.6_Silent_p.L852L|STXBP5_ENST00000367480.3_Silent_p.L799L|STXBP5_ENST00000179882.6_Silent_p.L507L	NM_139244.4	NP_640337.3	Q5T5C0	STXB5_HUMAN	syntaxin binding protein 5 (tomosyn)	852					exocytosis|positive regulation of exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|nicotinic acetylcholine-gated receptor-channel complex|synaptic vesicle	syntaxin-1 binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	42		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)		GTACTATATTGAGGTTAAAAG	0.353000													7	24					0	0	0.003080	0	0
CFB	629	broad.mit.edu	37	6	31911286	31911286	+	Silent	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr6:31911286C>T	ENST00000456570.1	+	9	1145	c.1090C>T	c.(1090-1092)Ctg>Ttg	p.L364L	CFB_ENST00000477310.1_Silent_p.L288L|C2_ENST00000442278.2_Silent_p.L385L|C2_ENST00000469372.1_Silent_p.L271L|C2_ENST00000299367.5_Silent_p.L517L|C2_ENST00000452323.2_Silent_p.L303L|CFB_ENST00000556679.1_Silent_p.L364L			P00751	CFAB_HUMAN	complement factor B	537	VWFA.				complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						CGACCACTCCCTGTGGAGGGT	0.632000													31	108					0	0	0.007291	0	0
MTMR4	9110	broad.mit.edu	37	17	56572926	56572926	+	Silent	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr17:56572926C>A	ENST00000323456.5	-	16	2701	c.2577G>T	c.(2575-2577)ggG>ggT	p.G859G	MTMR4_ENST00000579925.1_Silent_p.G802G	NM_004687.4	NP_004678.3	Q9NYA4	MTMR4_HUMAN	myotubularin related protein 4	859						cytoplasm|membrane	metal ion binding|protein tyrosine phosphatase activity			breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TGTCTTCCTCCCCATGGGTCA	0.478000													13	63					0.000151284	0.000166966	0.001855	1	0
CDH13	1012	broad.mit.edu	37	16	83065760	83065760	+	Silent	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr16:83065760C>A	ENST00000566620.1	+	3	593	c.303C>A	c.(301-303)ccC>ccA	p.P101P	CDH13_ENST00000431540.3_Silent_p.P101P|CDH13_ENST00000565636.1_Silent_p.P101P|CDH13_ENST00000428848.3_Silent_p.P101P|CDH13_ENST00000268613.10_Silent_p.P148P|CDH13_ENST00000569454.1_3'UTR|CDH13_ENST00000446376.2_Silent_p.P101P	NM_001220488.1|NM_001220489.1|NM_001220490.1|NM_001257.4	NP_001207417.1|NP_001207418.1|NP_001207419.1|NP_001248.1	P55290	CAD13_HUMAN	cadherin 13	101					adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|Rac protein signal transduction|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|Rho protein signal transduction|sprouting angiogenesis	anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection	adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding			large_intestine(1)	1		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)		COAD - Colon adenocarcinoma(5;0.0268)		CACGGACCCCCCATGCGGAAG	0.517000													10	17					0.000442599	0.000481144	0.006214	1	0
NEB	4703	broad.mit.edu	37	2	152404226	152404226	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr2:152404226T>A	ENST00000397345.3	-	132	20386	c.20184A>T	c.(20182-20184)aaA>aaT	p.K6728N	NEB_ENST00000603639.1_Missense_Mutation_p.K6728N|NEB_ENST00000604864.1_Missense_Mutation_p.K6728N|NEB_ENST00000427231.2_Missense_Mutation_p.K6728N|NEB_ENST00000409198.1_Missense_Mutation_p.K5027N|NEB_ENST00000172853.10_Missense_Mutation_p.K5027N	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN	nebulin	5027					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TGTCTTTCAGTTTGTGGTACA	0.443000													13	19					0	0	0.002450	0	0
TAOK3	51347	broad.mit.edu	37	12	118639195	118639195	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr12:118639195C>T	ENST00000392533.3	-	12	1383	c.893G>A	c.(892-894)cGt>cAt	p.R298H	TAOK3_ENST00000419821.2_Missense_Mutation_p.R298H	NM_016281.3	NP_057365.3	Q9H2K8	TAOK3_HUMAN	TAO kinase 3	298					MAPKKK cascade|negative regulation of JNK cascade|positive regulation of JNK cascade|protein autophosphorylation	mitochondrion|plasma membrane	ATP binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			central_nervous_system(1)|lung(5)|skin(1)	7	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					ATCTAGCTCACGAACTGCATC	0.438000													15	79					0	0	0.003163	0	0
CPXCR1	53336	broad.mit.edu	37	X	88008425	88008425	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chrX:88008425C>A	ENST00000276127.4	+	3	269	c.10C>A	c.(10-12)Cct>Act	p.P4T	CPXCR1_ENST00000373111.1_Missense_Mutation_p.P4T	NM_033048.5	NP_149037.4	Q8N123	CPXCR_HUMAN	CPX chromosome region, candidate 1	4						intracellular	zinc ion binding			NS(1)|cervix(1)|kidney(1)|large_intestine(11)|liver(1)|lung(20)|ovary(3)|upper_aerodigestive_tract(2)	40						GATGAGTTATCCTACTAAAGA	0.353000													3	9					0.00909568	0.0094684	0.009096	1	0
CDC34	997	broad.mit.edu	37	19	537015	537015	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr19:537015C>T	ENST00000215574.4	+	4	583	c.365C>T	c.(364-366)aCc>aTc	p.T122I		NM_004359.1	NP_004350.1	P49427	UB2R1_HUMAN	cell division cycle 34	122					DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|negative regulation of cAMP-mediated signaling|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination	cytoplasm|nucleus	ATP binding|protein binding|ubiquitin-protein ligase activity			large_intestine(1)|lung(1)	2		all_cancers(10;1.94e-35)|all_epithelial(18;5.94e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCCCACAGGACCATTCTCCTG	0.647000													20	39					0	0	0.007413	0	0
DCAF8L2	347442	broad.mit.edu	37	X	27766229	27766229	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chrX:27766229G>T	ENST00000451261.2	+	5	1616	c.1217G>T	c.(1216-1218)gGc>gTc	p.G406V		NM_001136533.1	NP_001130005.1			DDB1 and CUL4 associated factor 8-like 2											central_nervous_system(1)|endometrium(9)|kidney(3)|lung(7)|pancreas(1)|skin(3)	24						GAAAACAATGGCGTGCTCAAG	0.438000													13	23					7.03913e-09	9.1332e-09	0.001368	1	0
MYH2	4620	broad.mit.edu	37	17	10433043	10433043	+	Silent	SNP	T	T	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr17:10433043T>C	ENST00000245503.5	-	24	3339	c.2955A>G	c.(2953-2955)acA>acG	p.T985T	MYH2_ENST00000397183.2_Silent_p.T985T|MYH2_ENST00000532183.1_Intron|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	985					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						CCATCTCTTCTGTGAGGTTTT	0.478000													23	120					0	0	0.002780	0	0
SLC6A5	9152	broad.mit.edu	37	11	20676304	20676304	+	Missense_Mutation	SNP	T	T	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr11:20676304T>G	ENST00000525748.1	+	16	2557	c.2284T>G	c.(2284-2286)Tta>Gta	p.L762V	SLC6A5_ENST00000528440.1_3'UTR	NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 5	762					synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	GGGCCCATTCTTAGCTCAACA	0.547000													10	125					0	0	0.000978	0	0
TEX11	56159	broad.mit.edu	37	X	69849524	69849524	+	Missense_Mutation	SNP	A	A	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chrX:69849524A>T	ENST00000395889.2	-	19	1745	c.1590T>A	c.(1588-1590)gaT>gaA	p.D530E	TEX11_ENST00000374333.2_Missense_Mutation_p.D515E|TEX11_ENST00000374320.2_Missense_Mutation_p.D205E|TEX11_ENST00000344304.3_Missense_Mutation_p.D530E	NM_001003811.1	NP_001003811.1	Q8IYF3	TEX11_HUMAN	testis expressed 11	530							protein binding			breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(13)|ovary(3)|prostate(3)|skin(3)	48	Renal(35;0.156)					CTGCAACTAGATCATTATCTT	0.328000													17	46					0	0	0.004007	0	0
APOBEC3G	60489	broad.mit.edu	37	22	39483021	39483021	+	Nonsense_Mutation	SNP	A	A	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr22:39483021A>T	ENST00000407997.3	+	7	1387	c.1030A>T	c.(1030-1032)Aag>Tag	p.K344*	APOBEC3G_ENST00000452957.2_Nonsense_Mutation_p.K344*	NM_021822.3	NP_068594.1			apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3G											central_nervous_system(1)|large_intestine(4)|lung(5)|skin(1)|stomach(1)	12	Melanoma(58;0.04)					TTCAGAATTTAAGCACTGCTG	0.572000													17	44					0	0	0.004990	0	0
MAGEB3	4114	broad.mit.edu	37	X	30254298	30254298	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chrX:30254298C>A	ENST00000361644.2	+	5	994	c.257C>A	c.(256-258)gCc>gAc	p.A86D	MAGEB3_ENST00000378986.1_Missense_Mutation_p.A86D	NM_002365.4	NP_002356.2	O15480	MAGB3_HUMAN	melanoma antigen family B, 3	86										NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	25						TACAAGGGAGCCAACAGCAAA	0.448000													9	14					0.00448238	0.0047135	0.004482	1	0
COL11A2	1302	broad.mit.edu	37	6	33139529	33139529	+	Silent	SNP	C	C	A	rs146093235	byFrequency	TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr6:33139529C>A	ENST00000341947.2	-	42	3338	c.3111G>T	c.(3109-3111)ccG>ccT	p.P1037P	COL11A2_ENST00000477772.1_Intron|COL11A2_ENST00000374708.4_Silent_p.P951P|COL11A2_ENST00000374712.1_Silent_p.P956P|COL11A2_ENST00000361917.1_Silent_p.P930P|COL11A2_ENST00000357486.1_Silent_p.P1016P|COL11A2_ENST00000374713.1_Silent_p.P990P|COL11A2_ENST00000374714.1_Silent_p.P1011P|COL11A2_ENST00000395197.1_Silent_p.P977P	NM_080680.2	NP_542411.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	1037	Triple-helical region.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						GGGGACCCTGCGGGCCTGGGC	0.657000													27	15					8.88839e-20	1.52132e-19	0.002096	1	0
TSHZ3	57616	broad.mit.edu	37	19	31769005	31769005	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr19:31769005C>G	ENST00000240587.4	-	2	2021	c.1694G>C	c.(1693-1695)gGc>gCc	p.G565A		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	565					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					CCCCGACGAGCCCAGGGACAA	0.587000													35	57					0	0	0.003271	0	0
WNT10B	7480	broad.mit.edu	37	12	49361936	49361936	+	Silent	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr12:49361936G>T	ENST00000301061.4	-	4	852	c.504C>A	c.(502-504)tcC>tcA	p.S168S	WNT10B_ENST00000407467.1_Silent_p.S168S|WNT10B_ENST00000403957.1_Intron	NM_003394.3	NP_003385.2	O00744	WN10B_HUMAN	wingless-type MMTV integration site family, member 10B	168					axis specification|bone trabecula formation|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|chondrocyte differentiation|female gonad development|hemopoietic stem cell proliferation|midbrain-hindbrain boundary development|myoblast cell differentiation involved in skeletal muscle regeneration|negative regulation of epithelial cell proliferation|negative regulation of fat cell differentiation|neuron differentiation|positive regulation of anagen|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cell proliferation|positive regulation of epithelial cell differentiation|positive regulation of osteoblast differentiation|protein stabilization|regulation of skeletal muscle tissue development|skeletal muscle fiber development|smoothened signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity			central_nervous_system(1)|large_intestine(5)|lung(12)|prostate(1)|skin(4)	23						TCTTGCCTCGGGACAGTGCCT	0.657000													17	30					2.35188e-11	3.29036e-11	0.006122	1	0
ZNF275	10838	broad.mit.edu	37	X	152612745	152612745	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chrX:152612745G>T	ENST00000421401.3	+	4	779	c.602G>T	c.(601-603)aGg>aTg	p.R201M	ZNF275_ENST00000370249.2_Missense_Mutation_p.R148M|ZNF275_ENST00000440091.1_Missense_Mutation_p.R231M|ZNF275_ENST00000370251.2_Missense_Mutation_p.R201M	NM_001080485.3	NP_001073954.3	A6NFS0	A6NFS0_HUMAN	zinc finger protein 275	201						intracellular	nucleic acid binding|zinc ion binding			endometrium(5)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	16	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CAGCATCTGAGGGTCCACAGC	0.547000													41	52					2.13384e-23	3.84303e-23	0.003610	1	0
C1orf168	199920	broad.mit.edu	37	1	57254653	57254653	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr1:57254653C>A	ENST00000343433.6	-	3	992	c.912G>T	c.(910-912)caG>caT	p.Q304H	C1orf168_ENST00000484327.1_5'UTR	NM_001004303.4	NP_001004303.3	Q5VWT5	CA168_HUMAN	chromosome 1 open reading frame 168	304										NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2)	46						TACCTTCCCCCTGAGTCTTGG	0.597000													27	72					6.07407e-21	1.05712e-20	0.007291	1	0
GLP1R	2740	broad.mit.edu	37	6	39046924	39046924	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr6:39046924G>C	ENST00000373256.4	+	10	1034	c.991G>C	c.(991-993)Gtg>Ctg	p.V331L		NM_002062.3	NP_002053.3	P43220	GLP1R_HUMAN	glucagon-like peptide 1 receptor	331					activation of adenylate cyclase activity|cAMP-mediated signaling|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	glucagon receptor activity|peptide receptor activity, G-protein coupled			breast(5)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	31					Exenatide(DB01276)|Glucagon recombinant(DB00040)	CATCTGCATCGTGGTATCCAA	0.562000													18	141					0	0	0.007413	0	0
NUDCD2	134492	broad.mit.edu	37	5	162886923	162886923	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr5:162886923C>G	ENST00000302764.4	-	1	223	c.134G>C	c.(133-135)tGc>tCc	p.C45S	NUDCD2_ENST00000517501.1_Missense_Mutation_p.C45S	NM_145266.4	NP_660309.1	Q8WVJ2	NUDC2_HUMAN	NudC domain containing 2	45	CS.					intracellular				large_intestine(1)|prostate(1)	2	Renal(175;0.000281)	Medulloblastoma(196;0.0207)|all_neural(177;0.0966)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0981)|OV - Ovarian serous cystadenocarcinoma(192;0.183)|Epithelial(171;0.247)		CTGGAGGCCGCACTGGATATC	0.657000													10	55					0	0	0.008291	0	0
EHHADH	1962	broad.mit.edu	37	3	184910516	184910516	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr3:184910516C>A	ENST00000231887.3	-	7	1745	c.1670G>T	c.(1669-1671)aGg>aTg	p.R557M	EHHADH_ENST00000456310.1_Missense_Mutation_p.R461M	NM_001166415.1|NM_001966.3	NP_001159887.1|NP_001957.2	Q08426	ECHP_HUMAN	enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase	557	3-hydroxyacyl-CoA dehydrogenase.					peroxisome	3-hydroxyacyl-CoA dehydrogenase activity|coenzyme binding|dodecenoyl-CoA delta-isomerase activity|enoyl-CoA hydratase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(2)|skin(3)	24	all_cancers(143;4.04e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.98e-32)|OV - Ovarian serous cystadenocarcinoma(80;5.55e-21)		NADH(DB00157)	TGGGCAGTACCTCCTATTACC	0.488000													62	35					2.66076e-39	5.1439e-39	0.003610	1	0
ZFHX4	79776	broad.mit.edu	37	8	77775757	77775757	+	Silent	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr8:77775757G>T	ENST00000521891.2	+	11	10255	c.9807G>T	c.(9805-9807)ggG>ggT	p.G3269G	ZFHX4_ENST00000518282.1_Silent_p.G3243G|ZFHX4_ENST00000455469.2_Silent_p.G3224G|ZFHX4_ENST00000050961.6_Silent_p.G3220G	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	3220						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TTATCCCTGGGTTTGCTTCTT	0.493000										HNSCC(33;0.089)			20	80					1.55795e-14	2.3872e-14	0.001882	1	0
MYPOP	339344	broad.mit.edu	37	19	46404961	46404961	+	Missense_Mutation	SNP	T	T	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr19:46404961T>G	ENST00000322217.5	-	2	157	c.71A>C	c.(70-72)gAg>gCg	p.E24A		NM_001012643.2	NP_001012661.1	Q86VE0	MYPOP_HUMAN	Myb-related transcription factor, partner of profilin	24	Myb-like.					nucleus	DNA binding			large_intestine(2)|lung(1)|skin(1)	4						GATCTGGTTCTCTTCGAATGA	0.726000													10	3					0	0	0.008291	0	0
CTSG	1511	broad.mit.edu	37	14	25042850	25042850	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr14:25042850G>C	ENST00000216336.2	-	5	797	c.761C>G	c.(760-762)cCc>cGc	p.P254R		NM_001911.2	NP_001902.1	P08311	CATG_HUMAN	cathepsin G	254					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)		CAGTCACAGGGGGGTCTCCAT	0.493000													124	122					0	0	0.003610	0	0
OR14C36	127066	broad.mit.edu	37	1	248512455	248512455	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr1:248512455C>A	ENST00000317861.1	+	1	379	c.379C>A	c.(379-381)Cca>Aca	p.P127T		NM_001001918.1	NP_001001918.1	Q8NHC7	O14CZ_HUMAN	olfactory receptor, family 14, subfamily C, member 36	127					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(2)|lung(20)|ovary(2)|prostate(3)|skin(7)|upper_aerodigestive_tract(2)	43						TGTCTGCCAGCCACTTCACTA	0.507000													18	19					2.35188e-11	3.29036e-11	0.006122	1	0
ZEB2	9839	broad.mit.edu	37	2	145157509	145157509	+	Missense_Mutation	SNP	A	A	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr2:145157509A>T	ENST00000558170.2	-	8	2429	c.1245T>A	c.(1243-1245)ttT>ttA	p.F415L	ZEB2_ENST00000409487.3_Missense_Mutation_p.F415L|ZEB2_ENST00000303660.4_Missense_Mutation_p.F415L|ZEB2_ENST00000539609.3_Missense_Mutation_p.F391L	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	415						cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		CACCATTCATAAAGGGACTAG	0.453000													9	43					0	0	0.006214	0	0
MYH15	22989	broad.mit.edu	37	3	108195258	108195258	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr3:108195258G>T	ENST00000273353.3	-	13	1335	c.1279C>A	c.(1279-1281)Caa>Aaa	p.Q427K		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	427	Myosin head-like.					myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						TCTATAGTTTGACCTCTGGTA	0.338000													17	15					7.07596e-05	7.89367e-05	0.006122	1	0
PKP4	8502	broad.mit.edu	37	2	159519545	159519545	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr2:159519545C>T	ENST00000389757.3	+	14	2473	c.2348C>T	c.(2347-2349)cCa>cTa	p.P783L	AC005042.4_ENST00000342892.4_RNA|PKP4_ENST00000495123.1_3'UTR|PKP4_ENST00000389759.3_Missense_Mutation_p.P783L	NM_001005476.1	NP_001005476.1	Q99569	PKP4_HUMAN	plakophilin 4	783					cell adhesion	desmosome	protein binding			breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	61						GACTCTGAGCCAAGTTGCTGG	0.448000										HNSCC(62;0.18)			27	34					0	0	0.002445	0	0
TMEM255A	55026	broad.mit.edu	37	X	119438318	119438318	+	Silent	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chrX:119438318G>T	ENST00000371369.4	-	2	313	c.87C>A	c.(85-87)tcC>tcA	p.S29S	TMEM255A_ENST00000309720.5_Silent_p.S29S|TMEM255A_ENST00000440464.1_Silent_p.S29S	NM_001104544.1	NP_001098014.1			transmembrane protein 255A																		TGACATAGATGGAGTTTCGTT	0.428000													26	58					1.17739e-12	1.70316e-12	0.005443	1	0
DCAF12L1	139170	broad.mit.edu	37	X	125685683	125685683	+	Silent	SNP	C	C	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chrX:125685683C>G	ENST00000371126.1	-	1	1151	c.909G>C	c.(907-909)ctG>ctC	p.L303L		NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	303								p.L303L(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						GGAAGTAGGGCAGCCTGATGG	0.597000													14	54					0	0	0.002450	0	0
CD244	51744	broad.mit.edu	37	1	160811650	160811650	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr1:160811650C>A	ENST00000368034.4	-	2	280	c.103G>T	c.(103-105)Gtg>Ttg	p.V35L	CD244_ENST00000322302.7_Missense_Mutation_p.V35L|CD244_ENST00000368032.2_Missense_Mutation_p.V35L|CD244_ENST00000368033.3_Missense_Mutation_p.V35L	NM_001166663.1|NM_001166664.1|NM_016382.3	NP_001160135.1|NP_001160136.1|NP_057466.1	Q9BZW8	CD244_HUMAN	CD244 molecule, natural killer cell receptor 2B4	35	Ig-like 1.				blood coagulation|leukocyte migration	integral to membrane|plasma membrane	protein binding|receptor activity			central_nervous_system(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1)	18	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			TGAAGAGGCACTCCCGAGATG	0.483000													21	26					1.55469e-16	2.49302e-16	0.003330	1	0
TMPRSS11F	389208	broad.mit.edu	37	4	68919700	68919700	+	Missense_Mutation	SNP	A	A	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr4:68919700A>C	ENST00000356291.2	-	10	1303	c.1244T>G	c.(1243-1245)cTt>cGt	p.L415R	RP11-453E17.1_ENST00000500538.2_RNA	NM_207407.2	NP_997290.2	Q6ZWK6	TM11F_HUMAN	transmembrane protease, serine 11F	415	Peptidase S1.				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(4)	39						TTTTTTGGGAAGTGCACATGA	0.403000													13	70					0	0	0.002450	0	0
F2	2147	broad.mit.edu	37	11	46750227	46750227	+	Missense_Mutation	SNP	A	A	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr11:46750227A>T	ENST00000311907.5	+	11	1368	c.1312A>T	c.(1312-1314)Att>Ttt	p.I438F	F2_ENST00000530231.1_Missense_Mutation_p.I438F	NM_000506.3	NP_000497.1	P00734	THRB_HUMAN	coagulation factor II (thrombin)	438	Peptidase S1.				activation of caspase activity|acute-phase response|blood coagulation, intrinsic pathway|cell surface receptor linked signaling pathway|cytosolic calcium ion homeostasis|fibrinolysis|leukocyte migration|negative regulation of astrocyte differentiation|negative regulation of fibrinolysis|negative regulation of platelet activation|negative regulation of proteolysis|peptidyl-glutamic acid carboxylation|platelet activation|positive regulation of collagen biosynthetic process|positive regulation of protein phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of release of sequestered calcium ion into cytosol|post-translational protein modification|proteolysis|STAT protein import into nucleus|tyrosine phosphorylation of STAT protein	cytosol|endoplasmic reticulum lumen|extracellular space|Golgi lumen|plasma membrane|soluble fraction	calcium ion binding|growth factor activity|serine-type endopeptidase activity|thrombospondin receptor activity			endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	27		all_lung(304;0.000414)|Lung NSC(402;0.0011)		BRCA - Breast invasive adenocarcinoma(625;0.146)	Antihemophilic Factor(DB00025)|Argatroban(DB00278)|Bivalirudin(DB00006)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)|Enoxaparin(DB01225)|Heparin(DB01109)|Lepirudin(DB00001)|Menadione(DB00170)|Proflavine(DB01123)|Simvastatin(DB00641)|Suramin(DB04786)|Warfarin(DB00682)|Ximelagatran(DB04898)	CGAGCGAAACATTGAAAAGAT	0.532000													15	47					0	0	0.004007	0	0
CCNB3	85417	broad.mit.edu	37	X	50051956	50051956	+	Missense_Mutation	SNP	A	A	T	rs142543110		TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chrX:50051956A>T	ENST00000376042.1	+	6	1085	c.787A>T	c.(787-789)Atg>Ttg	p.M263L	CCNB3_ENST00000376038.1_Intron|CCNB3_ENST00000348603.2_Intron|CCNB3_ENST00000276014.7_Missense_Mutation_p.M263L			Q8WWL7	CCNB3_HUMAN	cyclin B3	263					cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	nucleus	protein kinase binding			breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					TTCCTTCTTTATGGAGTCAAT	0.413000													27	75					0	0	0.003954	0	0
PLEKHG4B	153478	broad.mit.edu	37	5	156309	156309	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr5:156309G>C	ENST00000283426.6	+	8	1314	c.1264G>C	c.(1264-1266)Ggc>Cgc	p.G422R		NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4B	422					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		AGAAGAGCTTGGCACAGAAGA	0.637000													16	30					0	0	0.003163	0	0
ZNF99	7652	broad.mit.edu	37	19	22939922	22939922	+	Silent	SNP	T	T	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr19:22939922T>C	ENST00000397104.3	-	6	2408	c.2409A>G	c.(2407-2409)aaA>aaG	p.K803K						zinc finger protein 99											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				ATTCTCCACATTTGTAGGGCT	0.388000													4	58					0	0	0.009096	0	0
OR8B12	219858	broad.mit.edu	37	11	124412749	124412749	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr11:124412749C>G	ENST00000306842.2	-	1	826	c.802G>C	c.(802-804)Gag>Cag	p.E268Q		NM_001005195.1	NP_001005195.1	Q8NGG6	OR8BC_HUMAN	olfactory receptor, family 8, subfamily B, member 12	268					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0213)		TTCCCTTGCTCGAGGGGCAGG	0.438000													17	46					0	0	0.004007	0	0
C1orf112	55732	broad.mit.edu	37	1	169812836	169812836	+	Nonsense_Mutation	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr1:169812836C>T	ENST00000286031.6	+	19	2570	c.1870C>T	c.(1870-1872)Caa>Taa	p.Q624*	C1orf112_ENST00000498289.1_3'UTR|C1orf112_ENST00000359326.4_Nonsense_Mutation_p.Q624*	NM_018186.2	NP_060656.2	Q9NSG2	CA112_HUMAN	chromosome 1 open reading frame 112	624										breast(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|stomach(1)	34	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					ACCTTATGTTCAACAGACATT	0.308000													6	42					0	0	0.003080	0	0
NDRG2	57447	broad.mit.edu	37	14	21490242	21490242	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr14:21490242C>A	ENST00000556147.1	-	5	1263	c.323G>T	c.(322-324)gGa>gTa	p.G108V	NDRG2_ENST00000397858.1_Missense_Mutation_p.G108V|NDRG2_ENST00000298687.5_Missense_Mutation_p.G108V|NDRG2_ENST00000350792.3_Missense_Mutation_p.G94V|NDRG2_ENST00000397844.2_Missense_Mutation_p.G94V|NDRG2_ENST00000554104.1_Missense_Mutation_p.G21V|NDRG2_ENST00000554143.1_Missense_Mutation_p.G94V|NDRG2_ENST00000553503.1_Missense_Mutation_p.G94V|NDRG2_ENST00000360463.3_Missense_Mutation_p.G94V|NDRG2_ENST00000397856.3_Missense_Mutation_p.G94V|NDRG2_ENST00000397855.3_Missense_Mutation_p.G94V|NDRG2_ENST00000397853.3_Missense_Mutation_p.G108V|NDRG2_ENST00000403829.3_Missense_Mutation_p.G104V|NDRG2_ENST00000397851.2_Missense_Mutation_p.G108V|NDRG2_ENST00000555158.1_Missense_Mutation_p.G94V|NDRG2_ENST00000298684.5_Missense_Mutation_p.G94V|NDRG2_ENST00000397847.2_Missense_Mutation_p.G108V			Q9UN36	NDRG2_HUMAN	NDRG family member 2	108					cell differentiation|nervous system development	centrosome|cytosol|Golgi apparatus|nucleus|perinuclear region of cytoplasm				breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	23	all_cancers(95;0.00185)		OV - Ovarian serous cystadenocarcinoma(11;6.85e-11)|Epithelial(56;9.49e-09)|all cancers(55;3.84e-08)	GBM - Glioblastoma multiforme(265;0.0191)		CACAGGGGCTCCCTCTTCCAT	0.522000													12	50					2.27111e-07	2.77282e-07	0.001368	1	0
LEMD2	221496	broad.mit.edu	37	6	33744940	33744940	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr6:33744940C>A	ENST00000293760.5	-	7	1252	c.1233G>T	c.(1231-1233)atG>atT	p.M411I	LEMD2_ENST00000502643.1_5'UTR|LEMD2_ENST00000508327.1_Missense_Mutation_p.M109I	NM_181336.3	NP_851853.1	Q8NC56	LEMD2_HUMAN	LEM domain containing 2	411						integral to nuclear inner membrane				central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(2)|pancreas(1)	9						CCATCTCATACATGGCTTGTT	0.498000													114	180					1.08021e-59	2.11085e-59	0.003610	1	0
BAI3	577	broad.mit.edu	37	6	70071032	70071032	+	Silent	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr6:70071032G>A	ENST00000370598.1	+	29	4688	c.3867G>A	c.(3865-3867)ttG>ttA	p.L1289L	BAI3_ENST00000546190.1_Silent_p.L253L|BAI3_ENST00000238918.8_Silent_p.L495L	NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	1289					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				ATGATAATTTGAGAGGGGCTG	0.393000													20	33					0	0	0.010504	0	0
POU6F1	5463	broad.mit.edu	37	12	51584375	51584375	+	Splice_Site	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr12:51584375C>A	ENST00000389243.4	-	11	1500	c.560_splice	c.e11-1	p.R187_splice	POU6F1_ENST00000333640.10_Splice_Site_p.R187_splice|POU6F1_ENST00000550824.1_Splice_Site_p.R187_splice			Q14863	PO6F1_HUMAN	POU class 6 homeobox 1	187	POU-specific.				brain development|heart development|muscle organ development	nucleus	sequence-specific DNA binding transcription factor activity			breast(2)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)	11						GCTTCTCGAACCTGTGGGCAA	0.582000													56	64					1.0442e-30	1.96619e-30	0.003610	1	0
CTNNA2	1496	broad.mit.edu	37	2	80085192	80085192	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr2:80085192G>T	ENST00000466387.1	+	8	1076	c.352G>T	c.(352-354)Gta>Tta	p.V118L	CTNNA2_ENST00000361291.4_Missense_Mutation_p.V152L|CTNNA2_ENST00000402739.4_Missense_Mutation_p.V118L|CTNNA2_ENST00000540488.1_Missense_Mutation_p.V118L|CTNNA2_ENST00000496558.1_Missense_Mutation_p.V118L|CTNNA2_ENST00000541047.1_Missense_Mutation_p.V118L			P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	118					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						TTGCTCGTCGGTAAAGCGCGG	0.577000													8	90					1.06961e-07	1.33287e-07	0.003080	1	0
ARNT	405	broad.mit.edu	37	1	150789613	150789613	+	Silent	SNP	T	T	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr1:150789613T>C	ENST00000358595.5	-	17	1844	c.1644A>G	c.(1642-1644)ttA>ttG	p.L548L	ARNT_ENST00000515192.1_Silent_p.L534L|ARNT_ENST00000505755.1_Silent_p.L533L|ARNT_ENST00000354396.2_Silent_p.L548L	NM_001197325.1|NM_001668.3|NM_178427.2	NP_001184254.1|NP_001659.1|NP_848514.1	P27540	ARNT_HUMAN	aryl hydrocarbon receptor nuclear translocator	548					positive regulation of hormone biosynthetic process|positive regulation vascular endothelial growth factor production|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|response to hypoxia		aryl hydrocarbon receptor binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|prostate(2)|skin(4)|stomach(1)	34	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.02)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211)			CCTGGGCAAATAAACCATCTG	0.383000			T	ETV6	AML								14	42					0	0	0.004007	0	0
NEK10	152110	broad.mit.edu	37	3	27213309	27213309	+	Splice_Site	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr3:27213309C>A	ENST00000429845.2	-	30	3194		c.e30+1		NEK10_ENST00000357467.2_Splice_Site|NEK10_ENST00000498182.1_Splice_Site|NEK10_ENST00000383770.3_Splice_Site|NEK10_ENST00000295720.6_Splice_Site|NEK10_ENST00000383771.4_Splice_Site			Q6ZWH5	NEK10_HUMAN	NIMA-related kinase 10								ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						TTTGCACCTACCTTGTTTGGG	0.358000													18	13					1.64113e-05	1.8741e-05	0.010504	1	0
LRP12	29967	broad.mit.edu	37	8	105503727	105503727	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr8:105503727T>A	ENST00000276654.5	-	7	1862	c.1754A>T	c.(1753-1755)cAg>cTg	p.Q585L	LRP12_ENST00000424843.2_Missense_Mutation_p.Q566L|LRP12_ENST00000518375.1_5'UTR	NM_013437.4	NP_038465.1	Q9Y561	LRP12_HUMAN	low density lipoprotein receptor-related protein 12	585					endocytosis|regulation of growth	coated pit|integral to plasma membrane	low-density lipoprotein receptor activity|protein binding			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			AAATCCAAGCTGAGATCGTAC	0.368000													21	28					0	0	0.002780	0	0
IL9	3578	broad.mit.edu	37	5	135231498	135231498	+	Missense_Mutation	SNP	A	A	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr5:135231498A>T	ENST00000274520.1	-	1	18	c.8T>A	c.(7-9)cTg>cAg	p.L3Q		NM_000590.1	NP_000581.1	P15248	IL9_HUMAN	interleukin 9	3					immune response|inflammatory response|positive regulation of cell proliferation|positive regulation of interleukin-5 biosynthetic process	extracellular space	cytokine activity|cytokine receptor binding|growth factor activity			large_intestine(3)|lung(2)|pancreas(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GACCATGGCCAGAAGCATCTT	0.542000													13	5					0	0	0.004007	0	0
DDX28	55794	broad.mit.edu	37	16	68055794	68055794	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr16:68055794C>A	ENST00000332395.5	-	1	1976	c.1312G>T	c.(1312-1314)Gga>Tga	p.G438*		NM_018380.3	NP_060850.2	Q9NUL7	DDX28_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 28	438	Helicase C-terminal.					mitochondrial nucleoid|nucleus	ATP binding|ATP-dependent helicase activity|RNA binding			central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	13		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0116)|Epithelial(162;0.0474)|all cancers(182;0.233)		TGGAAGATTCCTACCCTCATC	0.517000													16	33					4.7546e-09	6.208e-09	0.004007	1	0
DMD	1756	broad.mit.edu	37	X	31279119	31279119	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chrX:31279119G>T	ENST00000357033.4	-	63	9445	c.9239C>A	c.(9238-9240)aCa>aAa	p.T3080K	DMD_ENST00000378677.2_Missense_Mutation_p.T3076K|DMD_ENST00000541735.1_Missense_Mutation_p.T620K|DMD_ENST00000343523.2_Missense_Mutation_p.T620K|DMD_ENST00000359836.1_Missense_Mutation_p.T620K|DMD_ENST00000378680.2_Missense_Mutation_p.T12K|DMD_ENST00000474231.1_Missense_Mutation_p.T620K|DMD_ENST00000378723.3_Missense_Mutation_p.T12K|DMD_ENST00000361471.4_Missense_Mutation_p.T12K|DMD_ENST00000378702.4_Missense_Mutation_p.T12K|DMD_ENST00000378707.3_Missense_Mutation_p.T620K	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	3080	Interaction with SYNM (By similarity).|WW.				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				CCAGCAAGTTGTTTGAGTCTC	0.378000													7	21					0.000157383	0.000173433	0.003080	1	0
LRRC4B	94030	broad.mit.edu	37	19	51051798	51051798	+	Splice_Site	SNP	C	C	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr19:51051798C>G	ENST00000599957.1	-	2	495		c.e2+1		LRRC4B_ENST00000389201.3_Splice_Site			Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B							cell junction|integral to membrane|presynaptic membrane				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	30		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		GCCCCGCATACCTGGATGCCG	0.672000													2	2					0	0	0.004672	0	0
MXD4	10608	broad.mit.edu	37	4	2254172	2254172	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr4:2254172G>A	ENST00000337190.2	-	4	585	c.272C>T	c.(271-273)aCg>aTg	p.T91M		NM_006454.2	NP_006445.1	Q14582	MAD4_HUMAN	MAX dimerization protein 4	91	Helix-loop-helix motif.				negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|transcription corepressor activity			breast(1)|endometrium(1)|kidney(1)|lung(3)	6						GAGGCTCAGCGTGGTGTGGCG	0.637000													9	19					0	0	0.002450	0	0
ZBP1	81030	broad.mit.edu	37	20	56186853	56186853	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr20:56186853G>T	ENST00000340462.4	-	5	1015	c.735C>A	c.(733-735)caC>caA	p.H245Q	ZBP1_ENST00000343535.4_Missense_Mutation_p.H268Q|ZBP1_ENST00000395822.3_Missense_Mutation_p.H193Q|ZBP1_ENST00000371173.3_Missense_Mutation_p.H268Q			Q9H171	ZBP1_HUMAN	Z-DNA binding protein 1	268						cytoplasm|nucleus	double-stranded RNA adenosine deaminase activity|left-handed Z-DNA binding|RNA binding	p.H268H(1)		large_intestine(11)|lung(8)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	27	Lung NSC(12;0.000545)|all_lung(29;0.00195)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;7.87e-13)|Epithelial(14;3.26e-09)|all cancers(14;3.62e-08)			TCTCATTGCTGTGTCCCAGCT	0.632000													8	11					3.03607e-14	4.61305e-14	0.001368	1	0
CNTNAP5	129684	broad.mit.edu	37	2	125281979	125281979	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr2:125281979C>A	ENST00000431078.1	+	9	1788	c.1424C>A	c.(1423-1425)cCa>cAa	p.P475Q		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	475	Laminin G-like 2.				cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		CCCCCGGCTCCAGACAGCACT	0.483000													7	22					8.12818e-05	9.0327e-05	0.001984	1	0
AP2M1	1173	broad.mit.edu	37	3	183896904	183896904	+	Silent	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr3:183896904C>T	ENST00000382456.3	+	3	648	c.334C>T	c.(334-336)Ctg>Ttg	p.L112L	EIF2B5_ENST00000444495.1_Intron|AP2M1_ENST00000439647.1_Silent_p.L112L|AP2M1_ENST00000411763.2_Silent_p.L137L|AP2M1_ENST00000292807.5_Silent_p.L112L	NM_001025205.1	NP_001020376.1	Q96CW1	AP2M1_HUMAN	adaptor-related protein complex 2, mu 1 subunit	112					axon guidance|cellular membrane organization|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|vesicle-mediated transport|viral reproduction	clathrin adaptor complex|clathrin coat of coated pit|cytosol|endocytic vesicle membrane|peroxisomal membrane	lipid binding|protein binding|transporter activity			endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	18	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.92e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			ATATGAGCTGCTGGATGGTGA	0.547000													84	41					0	0	0.003610	0	0
ADAMTS13	11093	broad.mit.edu	37	9	136324098	136324098	+	Silent	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr9:136324098C>T	ENST00000371929.3	+	29	4524	c.4080C>T	c.(4078-4080)atC>atT	p.I1360I	ADAMTS13_ENST00000355699.2_Silent_p.I1304I|ADAMTS13_ENST00000371916.1_3'UTR|ADAMTS13_ENST00000371910.1_Silent_p.I156I|ADAMTS13_ENST00000485925.1_3'UTR|ADAMTS13_ENST00000356589.2_Silent_p.I1273I	NM_139025.3|NM_139027.3	NP_620594.1|NP_620596.2	Q76LX8	ATS13_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 13	1360	CUB 2.				cell-matrix adhesion|glycoprotein metabolic process|integrin-mediated signaling pathway|peptide catabolic process|platelet activation|protein processing|proteolysis	cell surface|proteinaceous extracellular matrix	calcium ion binding|integrin binding|metalloendopeptidase activity|zinc ion binding			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(4)	36				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		TCTCTCAGATCCGGGACACCC	0.572000													14	10					0	0	0.003163	0	0
CTAGE1	64693	broad.mit.edu	37	18	19996204	19996204	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr18:19996204C>T	ENST00000391403.2	-	1	1674	c.1571G>A	c.(1570-1572)gGa>gAa	p.G524E		NM_172241.2	NP_758441.2	Q96RT6	CTGE2_HUMAN	cutaneous T-cell lymphoma-associated antigen 1	524						integral to membrane				cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1)	27	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)					GCCTCTTCCTCCTCCCCGTGG	0.512000													15	83					0	0	0.007413	0	0
KCNB2	9312	broad.mit.edu	37	8	73849614	73849614	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr8:73849614C>A	ENST00000523207.1	+	3	2612	c.2024C>A	c.(2023-2025)aCt>aAt	p.T675N		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	675					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			GTTGACATAACTGTGAACCTC	0.547000													17	41					2.35188e-11	3.29036e-11	0.006122	1	0
STAG2	10735	broad.mit.edu	37	X	123202495	123202495	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chrX:123202495G>T	ENST00000371160.1	+	24	2637	c.2347G>T	c.(2347-2349)Gtt>Ttt	p.V783F	STAG2_ENST00000218089.9_Missense_Mutation_p.V783F|STAG2_ENST00000371157.3_Missense_Mutation_p.V783F|STAG2_ENST00000371144.3_Missense_Mutation_p.V783F|STAG2_ENST00000354548.5_Missense_Mutation_p.V714F|STAG2_ENST00000371145.3_Missense_Mutation_p.V783F|STAG2_ENST00000469481.1_Intron			Q8N3U4	STAG2_HUMAN	stromal antigen 2	783					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						GAATACTACTGTTAAGGAACA	0.294000													14	34					0.00316338	0.00334837	0.003163	1	0
MYH6	4624	broad.mit.edu	37	14	23855649	23855649	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr14:23855649C>T	ENST00000405093.3	-	33	4904	c.4834G>A	c.(4834-4836)Gag>Aag	p.E1612K	MYH6_ENST00000356287.3_Missense_Mutation_p.E1612K	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	1612					adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		CTCAGGACCTCGTTGCGGCTG	0.607000													83	83					0	0	0.003610	0	0
ADAM15	8751	broad.mit.edu	37	1	155030771	155030771	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr1:155030771C>G	ENST00000356955.2	+	15	1872	c.1771C>G	c.(1771-1773)Ctg>Gtg	p.L591V	ADAM15_ENST00000271836.6_Missense_Mutation_p.L591V|ADAM15_ENST00000449910.2_Missense_Mutation_p.L591V|ADAM15_ENST00000531455.1_Missense_Mutation_p.L601V|ADAM15_ENST00000359280.4_Missense_Mutation_p.L591V|ADAM15_ENST00000368410.2_Missense_Mutation_p.L297V|ADAM15_ENST00000368412.3_Missense_Mutation_p.L591V|ADAM15_ENST00000447332.3_Missense_Mutation_p.L575V|ADAM15_ENST00000360674.4_Missense_Mutation_p.L591V|ADAM15_ENST00000355956.2_Missense_Mutation_p.L591V|ADAM15_ENST00000368413.1_Missense_Mutation_p.L297V|ADAM15_ENST00000472434.1_3'UTR	NM_207197.2	NP_997080.1	Q13444	ADA15_HUMAN	ADAM metallopeptidase domain 15	591	Cys-rich.				angiogenesis|cell-matrix adhesion|collagen catabolic process|proteolysis	acrosomal vesicle|adherens junction|endomembrane system|flagellum|integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(5)|urinary_tract(1)	39	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			GACCCAGCCTCTGCTGGGCTC	0.597000													5	48					0	0	0.001168	0	0
OR51I1	390063	broad.mit.edu	37	11	5461847	5461847	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr11:5461847C>A	ENST00000380211.1	-	1	897	c.898G>T	c.(898-900)Gag>Tag	p.E300*	HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA	NM_001005288.2	NP_001005288.1	Q9H343	O51I1_HUMAN	olfactory receptor, family 51, subfamily I, member 1	300					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.E300*(1)		central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TTGCGGATCTCCTTGGTTTTC	0.473000													25	52					1.04121e-07	1.2986e-07	0.005443	1	0
KMT2C	58508	broad.mit.edu	37	7	151874875	151874875	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr7:151874875C>G	ENST00000355193.2	-	38	7881	c.7663G>C	c.(7663-7665)Ggc>Cgc	p.G2555R	KMT2C_ENST00000262189.6_Missense_Mutation_p.G2555R					lysine (K)-specific methyltransferase 2C																		TATGCTTGGCCCAGTATGTTG	0.473000													21	41					0	0	0.008871	0	0
MME	4311	broad.mit.edu	37	3	154834294	154834294	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr3:154834294G>C	ENST00000460393.1	+	5	505	c.385G>C	c.(385-387)Gat>Cat	p.D129H	MME_ENST00000360490.2_Missense_Mutation_p.D129H|MME_ENST00000492661.1_Missense_Mutation_p.D129H|MME_ENST00000493237.1_Missense_Mutation_p.D129H|MME_ENST00000462745.1_Missense_Mutation_p.D129H	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	P08473	NEP_HUMAN	membrane metallo-endopeptidase	129					cell-cell signaling|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)	CAAAACTGAAGATATAGTAGC	0.308000													32	38					0	0	0.006999	0	0
ZFHX4	79776	broad.mit.edu	37	8	77776468	77776468	+	Silent	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr8:77776468G>A	ENST00000521891.2	+	11	10966	c.10518G>A	c.(10516-10518)caG>caA	p.Q3506Q	ZFHX4_ENST00000518282.1_Silent_p.Q3480Q|ZFHX4_ENST00000455469.2_Silent_p.Q3461Q|ZFHX4_ENST00000050961.6_Silent_p.Q3457Q	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	3457	Ser-rich.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CTACCTCGCAGTCTGCAGCTT	0.438000										HNSCC(33;0.089)			23	15					0	0	0.003954	0	0
KPRP	448834	broad.mit.edu	37	1	152733784	152733784	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr1:152733784G>A	ENST00000368773.1	+	2	1778	c.1720G>A	c.(1720-1722)Gca>Aca	p.A574T	KPRP_ENST00000606109.1_Missense_Mutation_p.A574T	NM_001025231.1	NP_001020402.1	Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	574						cytoplasm				NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GAAAGGGGAAGCAAAGAGTGC	0.502000													8	34					0	0	0.003080	0	0
FAT3	120114	broad.mit.edu	37	11	92532563	92532563	+	Silent	SNP	C	C	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr11:92532563C>G	ENST00000298047.6	+	9	6401	c.6384C>G	c.(6382-6384)ggC>ggG	p.G2128G	FAT3_ENST00000525166.1_Silent_p.G1978G|FAT3_ENST00000409404.2_Silent_p.G2128G			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2128	Cadherin 19.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				ATGACTATGGCCACTTTGAAA	0.438000										TCGA Ovarian(4;0.039)			3	8					0	0	0.004672	0	0
SERPINE3	647174	broad.mit.edu	37	13	51915467	51915467	+	Silent	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr13:51915467G>A	ENST00000524365.1	+	4	865	c.240G>A	c.(238-240)ctG>ctA	p.L80L	SERPINE3_ENST00000521255.1_Silent_p.L80L|SERPINE3_ENST00000400389.4_Silent_p.L80L			A8MV23	SERP3_HUMAN	serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 3	80					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			ovary(2)	2						CAGATGCCCTGGGGTACACTG	0.577000													3	2					0	0	0.004672	0	0
FAM19A2	338811	broad.mit.edu	37	12	62261137	62261137	+	Missense_Mutation	SNP	A	A	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr12:62261137A>T	ENST00000416284.3	-	2	1654	c.70T>A	c.(70-72)Tgg>Agg	p.W24R	FAM19A2_ENST00000551619.1_Missense_Mutation_p.W24R|FAM19A2_ENST00000551449.1_Missense_Mutation_p.W24R	NM_178539.4	NP_848634.1	Q8N3H0	F19A2_HUMAN	family with sequence similarity 19 (chemokine (C-C motif)-like), member A2	24						cytoplasm				endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)	15			GBM - Glioblastoma multiforme(1;0.00484)	GBM - Glioblastoma multiforme(3;0.02)		ACTTTCCCCCACAAGGTTACA	0.303000													47	75					0	0	0.003610	0	0
TNRC6C	57690	broad.mit.edu	37	17	76047273	76047273	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr17:76047273G>T	ENST00000335749.4	+	3	2699	c.2130G>T	c.(2128-2130)tgG>tgT	p.W710C	TNRC6C_ENST00000588847.1_Missense_Mutation_p.W710C|TNRC6C_ENST00000544502.1_Missense_Mutation_p.W710C|TNRC6C_ENST00000301624.4_Missense_Mutation_p.W710C|TNRC6C_ENST00000541771.1_Missense_Mutation_p.W710C|TNRC6C_ENST00000588061.1_Missense_Mutation_p.W710C	NM_001142640.1	NP_001136112.1	Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C	710	Sufficient for interaction with argonaute family proteins.				gene silencing by RNA|regulation of translation		nucleotide binding|RNA binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			CAACTGGCTGGGAAGAACCCT	0.522000													7	7					0.000274275	0.00029951	0.004482	1	0
PRAMEF2	65122	broad.mit.edu	37	1	12921424	12921424	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr1:12921424C>A	ENST00000240189.2	+	4	1302	c.1215C>A	c.(1213-1215)agC>agA	p.S405R		NM_023014.1	NP_075390.1	O60811	PRAM2_HUMAN	PRAME family member 2	405										breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GTGGGCTGAGCAAGTTAAGCC	0.552000													36	75					1.47244e-24	2.68865e-24	0.006230	1	0
NDRG2	57447	broad.mit.edu	37	14	21490241	21490241	+	Silent	SNP	T	T	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr14:21490241T>A	ENST00000556147.1	-	5	1264	c.324A>T	c.(322-324)ggA>ggT	p.G108G	NDRG2_ENST00000397858.1_Silent_p.G108G|NDRG2_ENST00000298687.5_Silent_p.G108G|NDRG2_ENST00000350792.3_Silent_p.G94G|NDRG2_ENST00000397844.2_Silent_p.G94G|NDRG2_ENST00000554104.1_Silent_p.G21G|NDRG2_ENST00000554143.1_Silent_p.G94G|NDRG2_ENST00000553503.1_Silent_p.G94G|NDRG2_ENST00000360463.3_Silent_p.G94G|NDRG2_ENST00000397856.3_Silent_p.G94G|NDRG2_ENST00000397855.3_Silent_p.G94G|NDRG2_ENST00000397853.3_Silent_p.G108G|NDRG2_ENST00000403829.3_Silent_p.G104G|NDRG2_ENST00000397851.2_Silent_p.G108G|NDRG2_ENST00000555158.1_Silent_p.G94G|NDRG2_ENST00000298684.5_Silent_p.G94G|NDRG2_ENST00000397847.2_Silent_p.G108G			Q9UN36	NDRG2_HUMAN	NDRG family member 2	108					cell differentiation|nervous system development	centrosome|cytosol|Golgi apparatus|nucleus|perinuclear region of cytoplasm				breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	23	all_cancers(95;0.00185)		OV - Ovarian serous cystadenocarcinoma(11;6.85e-11)|Epithelial(56;9.49e-09)|all cancers(55;3.84e-08)	GBM - Glioblastoma multiforme(265;0.0191)		ACACAGGGGCTCCCTCTTCCA	0.517000													12	51					0	0	0.001368	0	0
RP1	6101	broad.mit.edu	37	8	55539392	55539392	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr8:55539392G>C	ENST00000220676.1	+	4	3098	c.2950G>C	c.(2950-2952)Gat>Cat	p.D984H		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	984			D -> G (in RP1).		axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TTTGACAGGAGATAATCTATG	0.348000													7	226					0	0	0.001984	0	0
ZNF548	147694	broad.mit.edu	37	19	57909966	57909966	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr19:57909966G>T	ENST00000366197.5	+	3	561	c.311G>T	c.(310-312)gGa>gTa	p.G104V	AC004076.7_ENST00000597410.1_Intron|AC003002.6_ENST00000596400.1_Intron|ZNF548_ENST00000336128.7_Missense_Mutation_p.G116V|ZNF548_ENST00000597400.1_3'UTR|AC003002.6_ENST00000600421.1_Intron	NM_152909.3	NP_690873.2	Q8NEK5	ZN548_HUMAN	zinc finger protein 548	104					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GAGCACAATGGAATTCATCCT	0.468000													25	45					7.76418e-22	1.36771e-21	0.005443	1	0
MAP3K15	389840	broad.mit.edu	37	X	19392632	19392632	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chrX:19392632G>C	ENST00000338883.4	-	20	2735	c.2736C>G	c.(2734-2736)aaC>aaG	p.N912K	MAP3K15_ENST00000359173.3_Missense_Mutation_p.N347K|MAP3K15_ENST00000469203.2_Missense_Mutation_p.N744K|MAP3K15_ENST00000518578.1_5'UTR	NM_001001671.3	NP_001001671.3	Q6ZN16	M3K15_HUMAN	mitogen-activated protein kinase kinase kinase 15	912							ATP binding|MAP kinase kinase kinase activity|metal ion binding			NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	Hepatocellular(33;0.183)					TCTTGCCCTTGTTCACCTGCC	0.577000													15	47					0	0	0.003163	0	0
CHST6	4166	broad.mit.edu	37	16	75513075	75513075	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr16:75513075G>T	ENST00000332272.4	-	3	831	c.652C>A	c.(652-654)Ctg>Atg	p.L218M	CHST6_ENST00000390664.2_Missense_Mutation_p.L218M|RP11-77K12.4_ENST00000530512.3_RNA	NM_021615.4	NP_067628.1	Q9GZX3	CHST6_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6	218					keratan sulfate biosynthetic process|N-acetylglucosamine metabolic process	Golgi membrane|integral to membrane	N-acetylglucosamine 6-O-sulfotransferase activity			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						TCACGCGCCAGAGCCTTGGCT	0.721000													12	19					7.03913e-09	9.1332e-09	0.001368	1	0
ADAMTS14	140766	broad.mit.edu	37	10	72511358	72511358	+	Nonsense_Mutation	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr10:72511358G>A	ENST00000373208.1	+	17	2561	c.2561G>A	c.(2560-2562)tGg>tAg	p.W854*	ADAMTS14_ENST00000373207.1_Nonsense_Mutation_p.W851*	NM_139155.2	NP_631894.2	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 14	851	TSP type-1 2.				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						ACCTATGAGTGGGCGCTCAAG	0.622000													13	27					0	0	0.001855	0	0
MAS1L	116511	broad.mit.edu	37	6	29455569	29455569	+	Silent	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr6:29455569C>T	ENST00000377127.3	-	1	169	c.111G>A	c.(109-111)gaG>gaA	p.E37E		NM_052967.1	NP_443199.1	P35410	MAS1L_HUMAN	MAS1 oncogene-like	37						cytoplasm|integral to membrane|nucleus|plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(7)|pancreas(1)|prostate(2)|skin(2)	28						GGTTCTGTGCCTCCTGGTCAC	0.493000													7	67					0	0	0.001984	0	0
ZSCAN1	284312	broad.mit.edu	37	19	58563973	58563973	+	Missense_Mutation	SNP	C	C	A	rs144488549		TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr19:58563973C>A	ENST00000282326.1	+	5	828	c.581C>A	c.(580-582)gCg>gAg	p.A194E		NM_182572.3	NP_872378.3	Q8NBB4	ZSCA1_HUMAN	zinc finger and SCAN domain containing 1	194					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		GAGGCCGAAGCGCCCCGCGCC	0.602000													11	31					2.27111e-07	2.77282e-07	0.001368	1	0
ZNF675	171392	broad.mit.edu	37	19	23837472	23837472	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr19:23837472T>A	ENST00000359788.4	-	4	431	c.263A>T	c.(262-264)gAg>gTg	p.E88V	ZNF675_ENST00000601935.1_Intron|ZNF675_ENST00000600313.1_Intron|ZNF675_ENST00000596211.1_Intron	NM_138330.2	NP_612203.2	Q8TD23	ZN675_HUMAN	zinc finger protein 675	88					bone resorption|cytokine-mediated signaling pathway|hemopoiesis|I-kappaB kinase/NF-kappaB cascade|negative regulation of JNK cascade|negative regulation of osteoclast differentiation|negative regulation of protein kinase activity|negative regulation of transcription, DNA-dependent|regulation of ossification|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				TATGTTCTGCTCTGGCCAAAA	0.308000													10	23					0	0	0.008291	0	0
OR9Q2	219957	broad.mit.edu	37	11	57958678	57958678	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr11:57958678C>A	ENST00000311591.3	+	1	773	c.716C>A	c.(715-717)tCc>tAc	p.S239Y		NM_001005283.2	NP_001005283.1	Q8NGE9	OR9Q2_HUMAN	olfactory receptor, family 9, subfamily Q, member 2	239					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(2)|endometrium(1)|large_intestine(3)|lung(24)|ovary(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41		Breast(21;0.0589)				AAGACCTTCTCCACCTGCGCC	0.567000													21	37					5.26018e-13	7.70145e-13	0.001882	1	0
LRRTM3	347731	broad.mit.edu	37	10	68686853	68686853	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr10:68686853C>G	ENST00000361320.4	+	2	757	c.179C>G	c.(178-180)tCt>tGt	p.S60C	CTNNA3_ENST00000433211.1_Intron|CTNNA3_ENST00000373744.4_Intron|CTNNA3_ENST00000494580.1_Intron	NM_178011.3	NP_821079.3	Q86VH5	LRRT3_HUMAN	leucine rich repeat transmembrane neuronal 3	60	LRRNT.					integral to membrane				breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	41						TCAAGTATATCTGCTGGTTGC	0.428000													18	43					0	0	0.007413	0	0
IGHV3-33	28434	broad.mit.edu	37	14	106815935	106815935	+	RNA	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr14:106815935G>A	ENST00000390615.2	-	0	217																											TACTGAAGGTGAATCCAGACG	0.567000													27	96					0	0	0.005443	0	0
SNX8	29886	broad.mit.edu	37	7	2297015	2297015	+	Silent	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr7:2297015C>T	ENST00000222990.3	-	9	1161	c.1119G>A	c.(1117-1119)gaG>gaA	p.E373E		NM_013321.2	NP_037453.1	Q9Y5X2	SNX8_HUMAN	sorting nexin 8	373					cell communication|early endosome to Golgi transport|intracellular protein transport	early endosome membrane	phosphatidylinositol binding|protein binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(2)|skin(3)	26		Ovarian(82;0.11)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0853)|OV - Ovarian serous cystadenocarcinoma(56;3.79e-14)		CAATGCGGGACTCCAGCTGCT	0.697000													4	8					0	0	0.009096	0	0
ZNF548	147694	broad.mit.edu	37	19	57909965	57909965	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr19:57909965G>T	ENST00000366197.5	+	3	560	c.310G>T	c.(310-312)Gga>Tga	p.G104*	AC004076.7_ENST00000597410.1_Intron|AC003002.6_ENST00000596400.1_Intron|ZNF548_ENST00000336128.7_Nonsense_Mutation_p.G116*|ZNF548_ENST00000597400.1_3'UTR|AC003002.6_ENST00000600421.1_Intron	NM_152909.3	NP_690873.2	Q8NEK5	ZN548_HUMAN	zinc finger protein 548	104					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TGAGCACAATGGAATTCATCC	0.473000													24	45					2.27525e-19	3.86686e-19	0.003954	1	0
ERN2	10595	broad.mit.edu	37	16	23718359	23718359	+	Silent	SNP	G	G	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr16:23718359G>C	ENST00000256797.4	-	5	660	c.492C>G	c.(490-492)ccC>ccG	p.P164P	ERN2_ENST00000457008.2_Silent_p.P116P	NM_033266.3	NP_150296.3	Q76MJ5	ERN2_HUMAN	endoplasmic reticulum to nucleus signaling 2	116					apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity			large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)		AGCTGCGGCAGGGAGAGGCAT	0.547000													10	46					0	0	0.008291	0	0
KSR1	8844	broad.mit.edu	37	17	25909746	25909746	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr17:25909746G>T	ENST00000398988.3	+	5	629	c.184G>T	c.(184-186)Gac>Tac	p.D62Y	KSR1_ENST00000509603.2_Missense_Mutation_p.D199Y|KSR1_ENST00000268763.6_Missense_Mutation_p.D62Y|KSR1_ENST00000319524.6_Missense_Mutation_p.D199Y	NM_014238.1	NP_055053.1	Q8IVT5	KSR1_HUMAN	kinase suppressor of ras 1	197					Ras protein signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	28	Lung NSC(42;0.00836)		BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		GCCTTCCACGGACACCCTCTC	0.662000													18	41					2.37509e-13	3.52732e-13	0.010504	1	0
ITM2A	9452	broad.mit.edu	37	X	78622626	78622626	+	Silent	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chrX:78622626G>A	ENST00000434584.2	-	1	423	c.87C>T	c.(85-87)gtC>gtT	p.V29V	ITM2A_ENST00000373298.2_Silent_p.V29V	NM_001171581.1	NP_001165052.1	O43736	ITM2A_HUMAN	integral membrane protein 2A	29						integral to membrane	protein binding			breast(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	18						TCTGAGTTCTGACCGTGCGGC	0.582000													3	9					0	0	0.004672	0	0
PPP2R3C	55012	broad.mit.edu	37	14	35585916	35585916	+	Missense_Mutation	SNP	T	T	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr14:35585916T>G	ENST00000261475.5	-	2	439	c.86A>C	c.(85-87)gAt>gCt	p.D29A	PPP2R3C_ENST00000555644.1_Missense_Mutation_p.D29A	NM_017917.2	NP_060387.2	Q969Q6	P2R3C_HUMAN	protein phosphatase 2, regulatory subunit B'', gamma	29						centrosome|nucleus	calcium ion binding			central_nervous_system(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)	15	Breast(36;0.0545)|Hepatocellular(127;0.158)|Prostate(35;0.184)		Lung(238;8.62e-06)|LUAD - Lung adenocarcinoma(48;1.42e-05)|Epithelial(34;0.0177)|all cancers(34;0.0491)	GBM - Glioblastoma multiforme(112;0.0803)		CATTTCTTCATCTTTTAATTC	0.303000													6	41					0	0	0.001984	0	0
TRIM51	84767	broad.mit.edu	37	11	55653694	55653694	+	Splice_Site	SNP	G	G	T	rs143260124		TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr11:55653694G>T	ENST00000449290.2	+	3	599	c.507_splice	c.e3+1	p.K169_splice	TRIM51_ENST00000244891.3_Splice_Site_p.K26_splice	NM_032681.3	NP_116070.2	Q9BSJ1	SPRY5_HUMAN	tripartite motif-containing 51	169						intracellular	zinc ion binding										GATGCTGGAAGGTTAGTACCG	0.398000													21	40					6.21321e-17	1.00522e-16	0.002780	1	0
MIR517A	574479	broad.mit.edu	37	19	54215527	54215527	+	RNA	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr19:54215527G>T	ENST00000385001.1	+	0	6					NR_030201.1																						gaaGATCTCAGGCAGTGACCC	0.493000													16	31					2.48551e-13	3.66498e-13	0.004990	1	0
ENOX2	10495	broad.mit.edu	37	X	129799677	129799677	+	Silent	SNP	T	T	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chrX:129799677T>A	ENST00000338144.3	-	10	1458	c.1041A>T	c.(1039-1041)gcA>gcT	p.A347A	ENOX2_ENST00000370935.1_Silent_p.A318A|ENOX2_ENST00000370927.1_Silent_p.A347A|ENOX2_ENST00000394363.1_Silent_p.A318A	NM_182314.1	NP_872114.1	Q16206	ENOX2_HUMAN	ecto-NOX disulfide-thiol exchanger 2	347					cell growth|electron transport chain|regulation of growth|transport|ultradian rhythm	cytosol|external side of plasma membrane|extracellular space	nucleic acid binding|nucleotide binding|protein disulfide oxidoreductase activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(3)	33						AGTGGTCCCATGCCTTCTGCT	0.522000													5	15					0	0	0.001168	0	0
DRD5	1816	broad.mit.edu	37	4	9783849	9783849	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr4:9783849G>T	ENST00000304374.2	+	1	592	c.196G>T	c.(196-198)Gtg>Ttg	p.V66L		NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN	dopamine receptor D5	66					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane				NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)	CGCAGCCATCGTGCGGAGCCG	0.652000													8	16					0.00307968	0.00326216	0.003080	1	0
MYCBP2	23077	broad.mit.edu	37	13	77642954	77642954	+	Missense_Mutation	SNP	T	T	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr13:77642954T>C	ENST00000407578.2	-	70	12183	c.11917A>G	c.(11917-11919)Att>Gtt	p.I3973V	MYCBP2_ENST00000357337.6_Missense_Mutation_p.I3935V|MYCBP2_ENST00000544440.2_Missense_Mutation_p.I3935V	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	3935					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		GCTTGGACAATATGAGCACAC	0.363000													17	49					0	0	0.006122	0	0
PTPRD	5789	broad.mit.edu	37	9	8499771	8499771	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr9:8499771C>T	ENST00000381196.4	-	22	2741	c.2198G>A	c.(2197-2199)cGc>cAc	p.R733H	PTPRD_ENST00000356435.5_Missense_Mutation_p.R733H|PTPRD_ENST00000358503.5_Missense_Mutation_p.R720H|PTPRD_ENST00000397611.3_Intron|PTPRD_ENST00000540109.1_Missense_Mutation_p.R733H|PTPRD_ENST00000537002.1_Intron|PTPRD_ENST00000397617.3_Intron|PTPRD_ENST00000397606.3_Intron|PTPRD_ENST00000355233.5_Intron|PTPRD_ENST00000471274.1_5'UTR|PTPRD_ENST00000486161.1_Intron|PTPRD_ENST00000360074.4_Missense_Mutation_p.R720H	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	733	Fibronectin type-III 5.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		CACGGGTGAGCGCCATGAGAC	0.473000										TSP Lung(15;0.13)			47	23					0	0	0.003610	0	0
DYDC2	84332	broad.mit.edu	37	10	82122242	82122242	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr10:82122242G>T	ENST00000372199.1	+	4	641	c.43G>T	c.(43-45)Gcc>Tcc	p.A15S	DYDC2_ENST00000444807.2_Missense_Mutation_p.A15S|DYDC2_ENST00000372198.1_Missense_Mutation_p.A29S|DYDC2_ENST00000372197.1_Missense_Mutation_p.A15S|DYDC2_ENST00000256039.2_Missense_Mutation_p.A15S			Q96IM9	DYDC2_HUMAN	DPY30 domain containing 2	15							protein binding			breast(1)|large_intestine(3)|lung(6)|skin(1)	11			Colorectal(32;0.229)			AAATTGCCTGGCCCAGGCACT	0.453000													13	28					2.27111e-07	2.77282e-07	0.001368	1	0
PLXNB3	5365	broad.mit.edu	37	X	153039404	153039404	+	Missense_Mutation	SNP	T	T	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chrX:153039404T>G	ENST00000538966.1	+	21	3710	c.3439T>G	c.(3439-3441)Ttc>Gtc	p.F1147V	PLXNB3_ENST00000538282.1_Missense_Mutation_p.F734V|PLXNB3_ENST00000361971.5_Missense_Mutation_p.F1124V|PLXNB3_ENST00000538776.1_Missense_Mutation_p.F777V	NM_001163257.1	NP_001156729.1	Q9ULL4	PLXB3_HUMAN	plexin B3	1124					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)					GCGGGTCTTCTTCACCCTAGA	0.672000													13	61					0	0	0.003163	0	0
ZBTB33	10009	broad.mit.edu	37	X	119388309	119388309	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chrX:119388309G>T	ENST00000326624.2	+	2	1267	c.1039G>T	c.(1039-1041)Gac>Tac	p.D347Y	ZBTB33_ENST00000557385.1_Missense_Mutation_p.D347Y	NM_006777.3	NP_006768.1	Q86T24	KAISO_HUMAN	zinc finger and BTB domain containing 33	347					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.D347H(1)		breast(2)|central_nervous_system(2)|endometrium(6)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	26						CTCCAGTCCTGACTCGGCCGT	0.428000													43	72					1.76056e-25	3.25164e-25	0.002852	1	0
SWSAP1	126074	broad.mit.edu	37	19	11486600	11486600	+	Nonsense_Mutation	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr19:11486600C>T	ENST00000312423.2	+	2	657	c.598C>T	c.(598-600)Cga>Tga	p.R200*		NM_175871.3	NP_787067.2	Q6NVH7	CS039_HUMAN	SWIM-type zinc finger 7 associated protein 1	200																	GGTGACTTTCCGATCAGATGG	0.642000													5	13					0	0	0.000602	0	0
FANCL	55120	broad.mit.edu	37	2	58425717	58425717	+	Silent	SNP	A	A	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr2:58425717A>T	ENST00000402135.3	-	7	588	c.552T>A	c.(550-552)ccT>ccA	p.P184P	FANCL_ENST00000403676.1_Intron|FANCL_ENST00000540646.1_Intron|FANCL_ENST00000233741.4_Intron|FANCL_ENST00000403295.3_Intron	NM_001114636.1	NP_001108108.1	Q9NW38	FANCL_HUMAN	Fanconi anemia, complementation group L	180					DNA repair	cytoplasm|nucleoplasm	ubiquitin-protein ligase activity|zinc ion binding			endometrium(1)|large_intestine(1)|lung(4)|ovary(2)	8						AATTTACCTGAGGAGAATTTA	0.358000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				10	23					0	0	0.001368	0	0
STIM2	57620	broad.mit.edu	37	4	27019334	27019334	+	Splice_Site	SNP	G	G	T	rs140282649		TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr4:27019334G>T	ENST00000382009.3	+	12	2043	c.1774_splice	c.e12-1	p.G592_splice	STIM2_ENST00000467011.1_Splice_Site_p.G497_splice|STIM2_ENST00000465503.1_Splice_Site_p.G505_splice|STIM2_ENST00000237364.5_Splice_Site_p.G584_splice|STIM2_ENST00000467087.1_Splice_Site_p.G497_splice|STIM2_ENST00000412829.2_Splice_Site_p.G584_splice	NM_001169118.1	NP_001162589.1	Q9P246	STIM2_HUMAN	stromal interaction molecule 2	497					activation of store-operated calcium channel activity|calcium ion transport|cellular calcium ion homeostasis|negative regulation of calcium ion transport via store-operated calcium channel activity	endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium channel regulator activity|calcium ion binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	25		Breast(46;0.0503)				GTTTTTCAGGGACCATGGCTA	0.507000													27	85					0.000117367	0.000130029	0.005443	1	0
IGHV7-81	28378	broad.mit.edu	37	14	107282904	107282904	+	RNA	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr14:107282904G>T	ENST00000390639.2	-	0	292																											GAAGCCCTGGGCATATGTTGG	0.537000													16	134					2.32078e-09	3.05778e-09	0.003163	1	0
TEX19	400629	broad.mit.edu	37	17	80320452	80320452	+	Silent	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr17:80320452C>T	ENST00000333437.4	+	2	736	c.426C>T	c.(424-426)acC>acT	p.T142T		NM_207459.3	NP_997342.1	Q8NA77	TEX19_HUMAN	testis expressed 19	142						nucleus		p.T142T(1)		breast(1)|endometrium(1)|kidney(1)|lung(2)|upper_aerodigestive_tract(1)	6						CTGACTGGACCCAGGGTCTTC	0.582000													35	98					0	0	0.002836	0	0
PKD2	5311	broad.mit.edu	37	4	88983142	88983142	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr4:88983142G>T	ENST00000237596.2	+	10	2170	c.2104G>T	c.(2104-2106)Gat>Tat	p.D702Y	PKD2_ENST00000502363.1_Missense_Mutation_p.D120Y|PKD2_ENST00000511337.1_3'UTR|PKD2_ENST00000508588.1_Missense_Mutation_p.D120Y	NM_000297.3	NP_000288.1	Q13563	PKD2_HUMAN	polycystic kidney disease 2 (autosomal dominant)	702						basal cortex|basal plasma membrane|endoplasmic reticulum|integral to membrane|lamellipodium|microtubule basal body	calcium ion binding|cytoskeletal protein binding|voltage-gated chloride channel activity|voltage-gated sodium channel activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(2)|lung(15)|skin(4)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221)		OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237)		GGAACTCTCAGATCTTATCAG	0.333000													40	15					2.00842e-17	3.28238e-17	0.002522	1	0
PRDM5	11107	broad.mit.edu	37	4	121675745	121675745	+	Missense_Mutation	SNP	T	T	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr4:121675745T>C	ENST00000264808.3	-	14	1826	c.1586A>G	c.(1585-1587)aAt>aGt	p.N529S	PRDM5_ENST00000506065.1_5'UTR|PRDM5_ENST00000428209.2_Missense_Mutation_p.N498S|PRDM5_ENST00000515109.1_Intron	NM_018699.2	NP_061169.2	Q9NQX1	PRDM5_HUMAN	PR domain containing 5	529					histone deacetylation|histone H3-K9 methylation|mitotic cell cycle|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	repressing transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(17)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						CAGTCCATCATTTTTACTGAA	0.348000													11	26					0	0	0.001855	0	0
UGT1A7	54577	broad.mit.edu	37	2	234591295	234591295	+	Missense_Mutation	SNP	C	C	T	rs141296723	byFrequency	TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr2:234591295C>T	ENST00000373426.3	+	1	712	c.712C>T	c.(712-714)Cct>Tct	p.P238S	UGT1A10_ENST00000373445.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A8_ENST00000373450.4_Intron	NM_019077.2	NP_061950.2														NS(1)|endometrium(6)|kidney(5)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|prostate(1)|skin(1)	33		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;8.93e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000412)|Lung(119;0.00333)|LUSC - Lung squamous cell carcinoma(224;0.00746)		TCTCCAAACCCCTGTCACGGC	0.413000													67	249					0	0	0.003610	0	0
PLG	5340	broad.mit.edu	37	6	161135903	161135903	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr6:161135903T>A	ENST00000308192.9	+	6	688	c.625T>A	c.(625-627)Tgg>Agg	p.W209R		NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	209	Kringle 2.				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	ATGCCAGGCCTGGGACTCTCA	0.473000													4	28					0	0	0.001168	0	0
CTCFL	140690	broad.mit.edu	37	20	56099195	56099195	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr20:56099195G>A	ENST00000426658.2	-	1	728	c.67C>T	c.(67-69)Ccg>Tcg	p.P23S	CTCFL_ENST00000432255.2_Missense_Mutation_p.P23S|CTCFL_ENST00000243914.3_Missense_Mutation_p.P23S|CTCFL_ENST00000422109.2_Missense_Mutation_p.P23S|CTCFL_ENST00000422869.2_Missense_Mutation_p.P23S|CTCFL_ENST00000371196.2_Missense_Mutation_p.P23S|CTCFL_ENST00000539382.1_Intron|CTCFL_ENST00000502686.2_Intron|CTCFL_ENST00000423479.2_Missense_Mutation_p.P23S|CTCFL_ENST00000433949.2_Missense_Mutation_p.P23S|CTCFL_ENST00000429804.2_Missense_Mutation_p.P23S			Q8NI51	CTCFL_HUMAN	CCCTC-binding factor (zinc finger protein)-like	23					cell cycle|DNA methylation involved in gamete generation|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent	cytoplasm|nucleus	histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding	p.P23S(1)		NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			CCTTTTTCCGGCATCAACTCG	0.507000													203	241					0	0	0.003610	0	0
TCF25	22980	broad.mit.edu	37	16	89967134	89967134	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr16:89967134G>T	ENST00000263346.8	+	12	1369	c.1313G>T	c.(1312-1314)tGt>tTt	p.C438F	TCF25_ENST00000263347.7_Missense_Mutation_p.C203F	NM_014972.2	NP_055787.1	Q9BQ70	TCF25_HUMAN	transcription factor 25 (basic helix-loop-helix)	438					heart development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|large_intestine(1)|lung(8)|ovary(3)|skin(1)|urinary_tract(2)	18		all_cancers(9;4.71e-08)|Lung NSC(15;0.000192)|all_lung(18;0.000319)|all_neural(9;0.0122)|all_hematologic(23;0.027)		BRCA - Breast invasive adenocarcinoma(80;0.0288)		CTCCCTGAGTGTGAGCAGAGC	0.592000													20	22					6.33239e-15	9.79626e-15	0.010504	1	0
SRCAP	10847	broad.mit.edu	37	16	30735460	30735460	+	Missense_Mutation	SNP	T	T	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr16:30735460T>C	ENST00000262518.4	+	25	5100	c.4715T>C	c.(4714-4716)cTt>cCt	p.L1572P	SRCAP_ENST00000395059.2_Missense_Mutation_p.L1510P|SRCAP_ENST00000344771.4_Missense_Mutation_p.L1414P	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	1572	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)			CAGGCTTCCCTTCTGGCTCCA	0.602000													46	42					0	0	0.003610	0	0
SLC25A14	9016	broad.mit.edu	37	X	129499558	129499558	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chrX:129499558C>T	ENST00000218197.5	+	8	990	c.763C>T	c.(763-765)Ccg>Tcg	p.P255S	SLC25A14_ENST00000339231.3_Missense_Mutation_p.P283S|SLC25A14_ENST00000361980.5_Missense_Mutation_p.P252S|SLC25A14_ENST00000543953.1_3'UTR|SLC25A14_ENST00000467496.1_3'UTR	NM_003951.2|NM_022810.1	NP_003942.1|NP_073721.1	O95258	UCP5_HUMAN	solute carrier family 25 (mitochondrial carrier, brain), member 14	255					aerobic respiration|mitochondrial transport	integral to plasma membrane|mitochondrial inner membrane	binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)	22						GGCCTCCAACCCGGTTGATGT	0.478000													33	90					0	0	0.003755	0	0
GPR98	84059	broad.mit.edu	37	5	90059178	90059178	+	Silent	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr5:90059178G>T	ENST00000405460.2	+	59	12273	c.12177G>T	c.(12175-12177)acG>acT	p.T4059T		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	4059					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TGACATTGACGGTTGTCCGGT	0.418000													10	10					0.000442599	0.000481144	0.006214	1	0
C2orf80	389073	broad.mit.edu	37	2	209045976	209045976	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr2:209045976G>A	ENST00000341287.4	-	5	455	c.260C>T	c.(259-261)gCt>gTt	p.A87V	C2orf80_ENST00000453017.1_Missense_Mutation_p.A87V|C2orf80_ENST00000451346.1_Missense_Mutation_p.A68V	NM_001099334.2	NP_001092804.1	Q0P641	CB080_HUMAN	chromosome 2 open reading frame 80	87										endometrium(2)|large_intestine(3)|lung(6)|skin(2)	13						TAAAATCATAGCTTCTCGTTC	0.333000													15	52					0	0	0.004007	0	0
CSTF2	1478	broad.mit.edu	37	X	100078976	100078976	+	Silent	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chrX:100078976G>T	ENST00000415585.2	+	5	568	c.546G>T	c.(544-546)gtG>gtT	p.V182V	CSTF2_ENST00000486615.1_Intron|CSTF2_ENST00000372972.2_Silent_p.V182V			P33240	CSTF2_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa	182	Interactions with CSTF3 and SYMPK.				mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	cleavage body|mRNA cleavage and polyadenylation specificity factor complex	nucleotide binding|protein binding|RNA binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1)	13						TGAGAATTGTGGATCCGGAAA	0.463000													26	67					3.73148e-12	5.34439e-12	0.007291	1	0
NLRP10	338322	broad.mit.edu	37	11	7981222	7981222	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr11:7981222G>C	ENST00000328600.2	-	2	2098	c.1937C>G	c.(1936-1938)aCa>aGa	p.T646R		NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	646							ATP binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TGTTTCCTCTGTCCCTCTGCC	0.378000													8	35					0	0	0.004482	0	0
MYT1L	23040	broad.mit.edu	37	2	1893222	1893222	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr2:1893222C>G	ENST00000399161.2	-	16	3058	c.2311G>C	c.(2311-2313)Ggg>Cgg	p.G771R	MYT1L_ENST00000428368.2_Missense_Mutation_p.G769R	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	771					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		TCCAGGGTCCCGTTCTCATCC	0.597000													38	28					0	0	0.002522	0	0
OR52J3	119679	broad.mit.edu	37	11	5068433	5068433	+	Silent	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr11:5068433C>A	ENST00000380370.1	+	1	678	c.678C>A	c.(676-678)gtC>gtA	p.V226V		NM_001001916.2	NP_001001916.2	Q8NH60	O52J3_HUMAN	olfactory receptor, family 52, subfamily J, member 3	226			V -> I (in dbSNP:rs17350764).		sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|kidney(6)|large_intestine(6)|lung(19)|ovary(1)|skin(2)	36		Medulloblastoma(188;0.00131)|all_neural(188;0.0189)|Breast(177;0.0204)		Epithelial(150;9.29e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.19)		TCCGTGCTGTCTTCCGCCTCC	0.443000													47	78					3.39706e-21	5.95513e-21	0.003610	1	0
FRMPD3	84443	broad.mit.edu	37	X	106808204	106808204	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chrX:106808204G>C	ENST00000276185.4	+	13	1303	c.1303G>C	c.(1303-1305)Gtg>Ctg	p.V435L				Q5JV73	FRPD3_HUMAN	FERM and PDZ domain containing 3	435	FERM.					cytoskeleton				breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(16)|ovary(2)|urinary_tract(1)	28						CCTCACCACTGTGCTGTCCGA	0.587000													34	78					0	0	0.002096	0	0
CAMTA1	23261	broad.mit.edu	37	1	7527931	7527931	+	Silent	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr1:7527931C>T	ENST00000303635.7	+	6	687	c.480C>T	c.(478-480)acC>acT	p.T160T	CAMTA1_ENST00000439411.2_Silent_p.T160T	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	160					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		TCATCCCCACCTTCCACCGGA	0.547000			T	WWTR1	epitheliod hemangioendothelioma								49	91					0	0	0.003610	0	0
MAGEA11	4110	broad.mit.edu	37	X	148797683	148797683	+	Silent	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chrX:148797683C>A	ENST00000355220.5	+	5	639	c.537C>A	c.(535-537)tcC>tcA	p.S179S	MAGEA11_ENST00000333104.4_Silent_p.S150S	NM_005366.4	NP_005357.2	P43364	MAGAB_HUMAN	melanoma antigen family A, 11	179						cytoplasm|nucleus	protein binding			cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	9	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					AGGAAGAGTCCTTCTCTCCCA	0.562000													16	29					2.35188e-11	3.29036e-11	0.006122	1	0
FLYWCH1	84256	broad.mit.edu	37	16	2980841	2980841	+	Silent	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr16:2980841G>T	ENST00000399667.2	+	4	1119	c.756G>T	c.(754-756)ctG>ctT	p.L252L	FLYWCH1_ENST00000253928.9_Silent_p.L252L|FLYWCH1_ENST00000416288.2_Silent_p.L251L			Q4VC44	FWCH1_HUMAN	FLYWCH-type zinc finger 1	252						nucleus	DNA binding|metal ion binding			kidney(1)|lung(3)	4						CCCTGTCACTGCTGAGCCTGC	0.706000													6	8					0.00198382	0.00211529	0.001984	1	0
MAMLD1	10046	broad.mit.edu	37	X	149639337	149639337	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chrX:149639337C>A	ENST00000370401.2	+	4	1802	c.1492C>A	c.(1492-1494)Cag>Aag	p.Q498K	MAMLD1_ENST00000432680.2_Missense_Mutation_p.Q473K|MAMLD1_ENST00000426613.2_Missense_Mutation_p.Q473K|MAMLD1_ENST00000455522.2_5'UTR|MAMLD1_ENST00000262858.5_Missense_Mutation_p.Q498K			Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	498	Poly-Gln.				male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37	Acute lymphoblastic leukemia(192;6.56e-05)					gcagcagcagcagcagcagca	0.547000													11	37					0.00829132	0.00866847	0.008291	1	0
IGF2R	3482	broad.mit.edu	37	6	160468351	160468351	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr6:160468351G>T	ENST00000356956.1	+	16	2360	c.2212G>T	c.(2212-2214)Ggc>Tgc	p.G738C		NM_000876.2	NP_000867.2	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	738					receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)		CGCGGGAGTGGGCTTCCCTGA	0.507000													7	9					0.000274275	0.00029951	0.004482	1	0
ZBED1	9189	broad.mit.edu	37	X	2407570	2407570	+	Silent	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chrX:2407570C>A	ENST00000381223.4	-	2	1394	c.1191G>T	c.(1189-1191)ctG>ctT	p.L397L	ZBED1_ENST00000381218.3_Silent_p.L397L|DHRSX_ENST00000334651.5_Intron|ZBED1_ENST00000381222.2_Silent_p.L397L	NM_001171135.1|NM_001171136.1|NM_004729.3	NP_001164606.1|NP_001164607.1|NP_004720.1	O96006	ZBED1_HUMAN	zinc finger, BED-type containing 1	397						nuclear chromosome	DNA binding|metal ion binding|protein dimerization activity|transposase activity			endometrium(8)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	25		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GGAGCTCCACCAGCCCCTCGA	0.632000													19	13					2.4624e-09	3.23847e-09	0.008871	1	0
FAM135B	51059	broad.mit.edu	37	8	139278033	139278033	+	Silent	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr8:139278033C>A	ENST00000395297.1	-	4	380	c.210G>T	c.(208-210)cgG>cgT	p.R70R		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	70										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			TCTGAAAGACCCGGCTGTGCA	0.478000										HNSCC(54;0.14)			16	33					1.99824e-07	2.45832e-07	0.004990	1	0
PHEX	5251	broad.mit.edu	37	X	22051130	22051130	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chrX:22051130G>C	ENST00000379374.4	+	1	572	c.7G>C	c.(7-9)Gca>Cca	p.A3P	PHEX_ENST00000537599.1_Missense_Mutation_p.A3P	NM_000444.4	NP_000435.3	P78562	PHEX_HUMAN	phosphate regulating endopeptidase homolog, X-linked	3					biomineral tissue development|cell-cell signaling|protein modification process|proteolysis|skeletal system development	integral to plasma membrane	aminopeptidase activity|metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(2)|endometrium(2)|large_intestine(12)|liver(1)|lung(19)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	42						TCTGATGGAAGCAGAAACAGG	0.542000													20	60					0	0	0.008871	0	0
CD200R1	131450	broad.mit.edu	37	3	112647867	112647867	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr3:112647867C>A	ENST00000471858.1	-	4	728	c.496G>T	c.(496-498)Gta>Tta	p.V166L	CD200R1_ENST00000490004.1_3'UTR|CD200R1_ENST00000308611.3_Missense_Mutation_p.V189L|CD200R1_ENST00000440122.2_3'UTR|CD200R1_ENST00000295863.4_Missense_Mutation_p.V144L	NM_170780.2	NP_740750.1	Q8TD46	MO2R1_HUMAN	CD200 receptor 1	166	Ig-like C2-type.				interspecies interaction between organisms|regulation of immune response	extracellular region|integral to membrane|plasma membrane	receptor activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	26						GCCTTGCATACTGCAGTTCTA	0.473000													34	14					2.80507e-11	3.90552e-11	0.002445	1	0
AP5S1	55317	broad.mit.edu	37	20	3804570	3804570	+	Missense_Mutation	SNP	A	A	G	rs149938656		TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr20:3804570A>G	ENST00000246041.2	+	3	448	c.229A>G	c.(229-231)Atg>Gtg	p.M77V	AP5S1_ENST00000379573.2_3'UTR|AP5S1_ENST00000379567.2_Missense_Mutation_p.M77V			Q9NUS5	CT029_HUMAN	adaptor-related protein complex 5, sigma 1 subunit	77					double-strand break repair via homologous recombination		protein binding										CCGGCCCCCCATGGACCTGCA	0.652000													11	25					0	0	0.001855	0	0
HMBOX1	79618	broad.mit.edu	37	8	28827628	28827628	+	Missense_Mutation	SNP	A	A	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr8:28827628A>T	ENST00000397358.3	+	4	796	c.92A>T	c.(91-93)cAg>cTg	p.Q31L	HMBOX1_ENST00000403668.2_Missense_Mutation_p.Q31L|HMBOX1_ENST00000444075.1_Missense_Mutation_p.Q31L|HMBOX1_ENST00000523613.1_Missense_Mutation_p.Q31L|HMBOX1_ENST00000287701.10_Missense_Mutation_p.Q31L|HMBOX1_ENST00000355231.5_Missense_Mutation_p.Q31L|HMBOX1_ENST00000519047.1_Missense_Mutation_p.Q31L|HMBOX1_ENST00000558662.1_Missense_Mutation_p.Q31L|HMBOX1_ENST00000524238.1_Missense_Mutation_p.Q31L	NM_024567.3	NP_078843.2	Q6NT76	HMBX1_HUMAN	homeobox containing 1	31					negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	11		Ovarian(32;0.0192)		KIRC - Kidney renal clear cell carcinoma(542;0.135)|Kidney(114;0.161)		GATCTGCTTCAGCGACTTCGG	0.393000													26	31					0	0	0.004656	0	0
COLGALT1	79709	broad.mit.edu	37	19	17688833	17688833	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr19:17688833C>G	ENST00000252599.4	+	9	1321	c.1201C>G	c.(1201-1203)Cac>Gac	p.H401D		NM_024656.2	NP_078932.2			collagen beta(1-O)galactosyltransferase 1																		GGACCCCTACCACGGCCGGCC	0.632000													19	16					0	0	0.010504	0	0
PCDHGA1	56114	broad.mit.edu	37	5	140712366	140712366	+	Silent	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr5:140712366G>T	ENST00000517417.1	+	1	2115	c.2115G>T	c.(2113-2115)ctG>ctT	p.L705L	PCDHGA1_ENST00000378105.3_Silent_p.L705L	NM_018912.2	NP_061735.1														breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGTCTTCCTGGCCTTCGTCA	0.677000													15	73					1.5739e-10	2.14595e-10	0.004007	1	0
ASB11	140456	broad.mit.edu	37	X	15301747	15301747	+	Silent	SNP	T	T	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chrX:15301747T>A	ENST00000537676.1	-	7	861	c.789A>T	c.(787-789)ccA>ccT	p.P263P	ASB11_ENST00000480796.1_Silent_p.P284P|ASB11_ENST00000380470.3_Silent_p.P267P|ASB11_ENST00000344384.4_Silent_p.P263P			Q8WXH4	ASB11_HUMAN	ankyrin repeat and SOCS box containing 11	284			S -> G (in dbSNP:rs35859007).		intracellular signal transduction					breast(2)|central_nervous_system(4)|endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|skin(1)	16	Hepatocellular(33;0.183)					AAAGAGCAGGTGGGCCTGAGA	0.517000													20	58					0	0	0.010504	0	0
F9	2158	broad.mit.edu	37	X	138642944	138642944	+	Silent	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chrX:138642944C>A	ENST00000218099.2	+	7	775	c.768C>A	c.(766-768)atC>atA	p.I256I	F9_ENST00000394090.2_Silent_p.I218I	NM_000133.3	NP_000124.1	P00740	FA9_HUMAN	coagulation factor IX	256	Peptidase S1.				blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen|plasma membrane	calcium ion binding|serine-type endopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|skin(1)	35	Acute lymphoblastic leukemia(192;0.000127)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Heparin(DB01109)|Menadione(DB00170)	GAGGCTCTATCGTTAATGAAA	0.333000													37	78					9.42957e-07	1.12102e-06	0.007835	1	0
PAMR1	25891	broad.mit.edu	37	11	35463195	35463195	+	Silent	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr11:35463195C>A	ENST00000378880.2	-	7	1312	c.867G>T	c.(865-867)ggG>ggT	p.G289G	PAMR1_ENST00000532848.1_Silent_p.G249G|PAMR1_ENST00000278360.3_Silent_p.G306G|PAMR1_ENST00000378878.3_Silent_p.G178G	NM_001001991.1	NP_001001991.1	Q6UXH9	PAMR1_HUMAN	peptidase domain containing associated with muscle regeneration 1	289	Sushi 1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						TTTTCTGGTACCCATTGACTG	0.428000													44	52					2.00842e-17	3.28238e-17	0.002522	1	0
RNF150	57484	broad.mit.edu	37	4	141888788	141888788	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr4:141888788C>A	ENST00000420921.2	-	3	389	c.301G>T	c.(301-303)Gat>Tat	p.D101Y	RNF150_ENST00000306799.3_Intron|RNF150_ENST00000515673.1_Missense_Mutation_p.D242Y|RNF150_ENST00000379512.2_Missense_Mutation_p.D101Y|RNF150_ENST00000507500.1_Missense_Mutation_p.D242Y|RNF150_ENST00000515057.1_5'UTR			Q9ULK6	RN150_HUMAN	ring finger protein 150	242	PA.					integral to membrane	zinc ion binding			breast(1)|large_intestine(10)|lung(7)|ovary(1)	19	all_hematologic(180;0.162)					TGGTTCCTATCCCTGGCATTT	0.363000													32	14					3.1745e-13	4.67617e-13	0.008361	1	0
BTRC	8945	broad.mit.edu	37	10	103221745	103221745	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr10:103221745C>A	ENST00000370187.3	+	3	282	c.164C>A	c.(163-165)tCa>tAa	p.S55*	BTRC_ENST00000393441.4_Intron|BTRC_ENST00000408038.2_Nonsense_Mutation_p.S19*	NM_033637.3	NP_378663.1	Q9Y297	FBW1A_HUMAN	beta-transducin repeat containing E3 ubiquitin protein ligase	55					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|positive regulation of proteolysis|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|viral reproduction|Wnt receptor signaling pathway	cytosol|nucleus|SCF ubiquitin ligase complex				endometrium(4)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	27		Colorectal(252;0.234)		Epithelial(162;1.05e-08)|all cancers(201;6.59e-07)		CAGAATTCCTCAGAGAGAGAA	0.328000													12	47					0.00185496	0.00198227	0.001855	1	0
LINC00477	144360	broad.mit.edu	37	12	24736982	24736982	+	RNA	SNP	G	G	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr12:24736982G>C	ENST00000483544.1	-	0	120					NR_029451.2																						AAGAGAGTGGGGTAGCAGGAG	0.507000													29	81					0	0	0.002445	0	0
LATS1	9113	broad.mit.edu	37	6	150004668	150004668	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr6:150004668C>G	ENST00000543571.1	-	4	2104	c.1557G>C	c.(1555-1557)tgG>tgC	p.W519C	LATS1_ENST00000253339.5_Missense_Mutation_p.W519C|LATS1_ENST00000542747.1_5'UTR|LATS1_ENST00000392273.3_Missense_Mutation_p.W519C	NM_004690.3	NP_004681.1	O95835	LATS1_HUMAN	large tumor suppressor kinase 1	519					cell division|cytoplasmic sequestering of protein|G2/M transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|positive regulation of peptidyl-serine phosphorylation|regulation of actin filament polymerization|sister chromatid segregation	microtubule organizing center|spindle pole	ATP binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity			central_nervous_system(1)|lung(5)	6		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)		GCTGTGGTATCCAAGAAGGGT	0.458000													11	56					0	0	0.000978	0	0
USP24	23358	broad.mit.edu	37	1	55563650	55563650	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr1:55563650C>A	ENST00000294383.6	-	47	5560	c.5561G>T	c.(5560-5562)aGt>aTt	p.S1854I	USP24_ENST00000407756.1_Missense_Mutation_p.S1694I	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN	ubiquitin specific peptidase 24	1854					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						GTACGCATTACTTCCTTCTAG	0.348000													28	38					4.66903e-05	5.24496e-05	0.002096	1	0
MYH11	4629	broad.mit.edu	37	16	15797965	15797965	+	Silent	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr16:15797965G>T	ENST00000396324.3	-	42	5910	c.5823C>A	c.(5821-5823)acC>acA	p.T1941T	NDE1_ENST00000396354.1_Intron|NDE1_ENST00000342673.5_Intron|MYH11_ENST00000452625.2_3'UTR|MYH11_ENST00000576790.1_3'UTR|MYH11_ENST00000573908.1_5'UTR|MYH11_ENST00000300036.5_Silent_p.T1934T|NDE1_ENST00000396355.1_Intron|MYH11_ENST00000338282.6_3'UTR	NM_001040114.1	NP_001035203.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	1934	Carboxyl-terminal.				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						GAACGAAAGAGGTCTCGTTTC	0.393000			T	CBFB	AML								32	61					7.11191e-15	1.09904e-14	0.002836	1	0
RP11-909M7.3	0	broad.mit.edu	37	14	101439954	101439954	+	RNA	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr14:101439954G>T	ENST00000554693.2	+	0	384				SNORD114-16_ENST00000363044.1_RNA																							GACTACTGGTGTGAGTCACGC	0.363000													8	23					9.70103e-10	1.28636e-09	0.008291	1	0
ALDH3A2	224	broad.mit.edu	37	17	19575133	19575133	+	Missense_Mutation	SNP	A	A	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr17:19575133A>T	ENST00000176643.6	+	9	1753	c.1307A>T	c.(1306-1308)aAc>aTc	p.N436I	ALDH3A2_ENST00000571163.1_Intron|ALDH3A2_ENST00000395575.2_Missense_Mutation_p.N436I|ALDH3A2_ENST00000581518.1_Missense_Mutation_p.N436I|ALDH3A2_ENST00000579855.1_Missense_Mutation_p.N436I|ALDH3A2_ENST00000339618.4_Missense_Mutation_p.N436I			P51648	AL3A2_HUMAN	aldehyde dehydrogenase 3 family, member A2	436					cellular aldehyde metabolic process|central nervous system development|epidermis development|lipid metabolic process|peripheral nervous system development	endoplasmic reticulum membrane|integral to membrane	3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase|aldehyde dehydrogenase (NAD) activity			endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(2)|ovary(2)|prostate(1)	13	all_cancers(12;1.39e-05)|all_epithelial(12;0.00158)|Breast(13;0.245)				NADH(DB00157)	GAAGGTGCTAACAAACTCAGA	0.408000													57	38					0	0	0.003610	0	0
ZDBF2	57683	broad.mit.edu	37	2	207171539	207171539	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr2:207171539G>C	ENST00000374423.3	+	5	2673	c.2287G>C	c.(2287-2289)Gag>Cag	p.E763Q		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	763							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						GTCAGTTACTGAGCAGTCTCA	0.403000													52	123					0	0	0.003610	0	0
FERMT1	55612	broad.mit.edu	37	20	6065747	6065747	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr20:6065747G>A	ENST00000217289.4	-	12	2347	c.1559C>T	c.(1558-1560)tCa>tTa	p.S520L	FERMT1_ENST00000478194.1_5'UTR|FERMT1_ENST00000536936.1_Missense_Mutation_p.S263L	NM_017671.4	NP_060141.3	Q9BQL6	FERM1_HUMAN	fermitin family member 1	520	FERM.				cell adhesion|establishment of epithelial cell polarity|keratinocyte migration|keratinocyte proliferation	cytosol|focal adhesion|ruffle membrane	binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	17						ACACCGTGGTGACACAAAACA	0.393000													31	57					0	0	0.002445	0	0
ZNF292	23036	broad.mit.edu	37	6	87968387	87968387	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr6:87968387G>C	ENST00000369577.3	+	8	5083	c.5040G>C	c.(5038-5040)caG>caC	p.Q1680H	ZNF292_ENST00000339907.4_Missense_Mutation_p.Q1675H	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	1680					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		GTGAACCTCAGAGTTTGGTGG	0.333000													5	8					0	0	0.000602	0	0
ZNF407	55628	broad.mit.edu	37	18	72344865	72344865	+	Silent	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr18:72344865G>T	ENST00000299687.5	+	1	1890	c.1890G>T	c.(1888-1890)gtG>gtT	p.V630V	ZNF407_ENST00000309902.6_Silent_p.V630V|ZNF407_ENST00000582337.1_Silent_p.V630V|ZNF407_ENST00000577538.1_Silent_p.V630V	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	630					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		AAAAAGATGTGGAAGAACACA	0.358000													23	61					2.89027e-11	4.01257e-11	0.002299	1	0
PCDHGC4	56098	broad.mit.edu	37	5	140864778	140864778	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr5:140864778G>C	ENST00000306593.1	+	1	38	c.38G>C	c.(37-39)cGg>cCg	p.R13P	PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB6_ENST00000520790.1_Intron	NM_018928.2|NM_032406.1	NP_061751.1|NP_115782.1														NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(13)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	42			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAAATCTGGCGGTGGGCTACC	0.572000													10	17					0	0	0.008291	0	0
PCDH15	65217	broad.mit.edu	37	10	56138679	56138679	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr10:56138679G>T	ENST00000373965.2	-	4	575	c.181C>A	c.(181-183)Ctg>Atg	p.L61M	PCDH15_ENST00000395430.1_Missense_Mutation_p.L61M|PCDH15_ENST00000414778.1_Missense_Mutation_p.L66M|PCDH15_ENST00000395442.1_Missense_Mutation_p.L61M|PCDH15_ENST00000373957.3_Missense_Mutation_p.L39M|PCDH15_ENST00000395432.2_Missense_Mutation_p.L61M|PCDH15_ENST00000395438.1_Missense_Mutation_p.L61M|PCDH15_ENST00000395440.1_Missense_Mutation_p.L61M|PCDH15_ENST00000395446.1_Missense_Mutation_p.L61M|PCDH15_ENST00000373955.1_Missense_Mutation_p.L61M|PCDH15_ENST00000395445.1_Missense_Mutation_p.L61M|PCDH15_ENST00000361849.3_Missense_Mutation_p.L61M|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000320301.6_Missense_Mutation_p.L61M|PCDH15_ENST00000395433.1_Missense_Mutation_p.L39M|PCDH15_ENST00000437009.1_Missense_Mutation_p.L61M	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	61	Cadherin 1.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				CCTTTGATCAGCATGTTGTCC	0.403000										HNSCC(58;0.16)			35	94					1.30998e-17	2.14819e-17	0.005524	1	0
HIST1H3D	8351	broad.mit.edu	37	6	26197189	26197189	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr6:26197189C>T	ENST00000377831.5	-	2	743	c.290G>A	c.(289-291)tGc>tAc	p.C97Y	HIST1H3D_ENST00000356476.2_Missense_Mutation_p.C97Y	NM_003530.3	NP_003521.2	P68431	H31_HUMAN	histone cluster 1, H3d	97					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			NS(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)	14		all_hematologic(11;0.196)				GTAGGCCTCGCAGGCCTCCTG	0.597000													40	55					0	0	0.009718	0	0
TBC1D8	11138	broad.mit.edu	37	2	101644861	101644861	+	Silent	SNP	T	T	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr2:101644861T>C	ENST00000409318.1	-	13	2386	c.2256A>G	c.(2254-2256)ccA>ccG	p.P752P	TBC1D8_ENST00000376840.4_Silent_p.P737P	NM_001102426.1	NP_001095896.1	O95759	TBCD8_HUMAN	TBC1 domain family, member 8 (with GRAM domain)	737					blood circulation|positive regulation of cell proliferation	intracellular|membrane	calcium ion binding|Rab GTPase activator activity			breast(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	32						CTGGGGGCCCTGGGCTGTCCT	0.557000													54	35					0	0	0.003610	0	0
SLC7A3	84889	broad.mit.edu	37	X	70146814	70146814	+	Missense_Mutation	SNP	T	T	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chrX:70146814T>G	ENST00000374299.3	-	9	1508	c.1364A>C	c.(1363-1365)aAg>aCg	p.K455T	SLC7A3_ENST00000298085.4_Missense_Mutation_p.K455T			Q8WY07	CTR3_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 3	455					cellular nitrogen compound metabolic process	integral to membrane|plasma membrane				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|urinary_tract(1)	31	Renal(35;0.156)				L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	TAGGGTCAACTTCTCTGATTC	0.478000													8	45					0	0	0.003080	0	0
MARCH1	55016	broad.mit.edu	37	4	164506997	164506997	+	Silent	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr4:164506997G>T	ENST00000503008.1	-	6	1303	c.327C>A	c.(325-327)tcC>tcA	p.S109S	MARCH1_ENST00000514618.1_Silent_p.S365S|MARCH1_ENST00000274056.7_Silent_p.S109S|MARCH1_ENST00000339875.5_Silent_p.S92S	NM_001166373.1	NP_001159845.1	Q8TCQ1	MARH1_HUMAN	membrane-associated ring finger (C3HC4) 1, E3 ubiquitin protein ligase	109					antigen processing and presentation of peptide antigen via MHC class II|immune response	cytoplasmic vesicle membrane|early endosome membrane|Golgi apparatus|integral to membrane|late endosome membrane|lysosomal membrane|plasma membrane	MHC protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(3)|lung(20)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	36	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				GGTGGAGGCAGGACTGGTGGA	0.542000													7	33					1.6384e-10	2.22135e-10	0.001984	1	0
MAGIX	79917	broad.mit.edu	37	X	49022561	49022561	+	Silent	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chrX:49022561C>A	ENST00000376338.3	+	4	730	c.651C>A	c.(649-651)gcC>gcA	p.A217A	MAGIX_ENST00000412696.2_Silent_p.A276A|MAGIX_ENST00000498742.1_3'UTR|MAGIX_ENST00000376339.1_Silent_p.A212A|MAGIX_ENST00000425661.2_Silent_p.A200A			Q9H6Y5	MAGIX_HUMAN	MAGI family member, X-linked	276																	CAGAGGCGGCCGCCGATGGCC	0.692000													7	17					0.00307968	0.00326216	0.003080	1	0
C6orf222	389384	broad.mit.edu	37	6	36290124	36290124	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr6:36290124C>G	ENST00000437635.2	-	9	1744	c.1567G>C	c.(1567-1569)Gaa>Caa	p.E523Q		NM_001010903.4	NP_001010903.3	P0C671	CF222_HUMAN	chromosome 6 open reading frame 222	523										breast(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(4)|urinary_tract(4)	26						GGTGCCCCTTCTGGCGTGTGG	0.587000													76	58					0	0	0.003610	0	0
TAOK2	9344	broad.mit.edu	37	16	29997038	29997038	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr16:29997038G>T	ENST00000308893.4	+	15	2891	c.1848G>T	c.(1846-1848)caG>caT	p.Q616H	TAOK2_ENST00000416441.2_Missense_Mutation_p.Q443H|TAOK2_ENST00000279394.3_Missense_Mutation_p.Q616H|TAOK2_ENST00000543033.1_Missense_Mutation_p.Q616H	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	616					actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						TGCTGCGGCAGAAGGAGCAGC	0.662000													3	9					0.00909568	0.0094684	0.009096	1	0
CD163	9332	broad.mit.edu	37	12	7640054	7640054	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr12:7640054G>A	ENST00000359156.4	-	8	2153	c.1951C>T	c.(1951-1953)Cac>Tac	p.H651Y	CD163_ENST00000396620.3_Missense_Mutation_p.H684Y|CD163_ENST00000541972.1_Missense_Mutation_p.H639Y|CD163_ENST00000432237.2_Missense_Mutation_p.H651Y	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	651	SRCR 6.				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						CCAGTGCAGTGAAACATATGC	0.493000													12	67					0	0	0.000978	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125284970	125284970	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr2:125284970T>A	ENST00000431078.1	+	10	1947	c.1583T>A	c.(1582-1584)gTt>gAt	p.V528D		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	528	Laminin G-like 2.				cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		CTCATTTCAGTTCAGCAAGGT	0.438000													8	62					0	0	0.004482	0	0
SACS	26278	broad.mit.edu	37	13	23909383	23909383	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr13:23909383C>A	ENST00000382298.3	-	10	9220	c.8632G>T	c.(8632-8634)Ggg>Tgg	p.G2878W	SACS_ENST00000382292.3_Missense_Mutation_p.G2878W|SACS_ENST00000402364.1_Missense_Mutation_p.G2128W	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	2878					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		AATGGCAGCCCAGTCTCCAAA	0.458000													7	31					5.18039e-06	6.01058e-06	0.003080	1	0
KCTD7	154881	broad.mit.edu	37	7	66098289	66098289	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr7:66098289G>T	ENST00000275532.3	+	2	356	c.172G>T	c.(172-174)Gga>Tga	p.G58*	KCTD7_ENST00000443322.1_Nonsense_Mutation_p.G58*	NM_001167961.2|NM_153033.4	NP_001161433.1|NP_694578.1	Q96MP8	KCTD7_HUMAN	potassium channel tetramerization domain containing 7	58	BTB.					voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|urinary_tract(1)	16						CCTTAACATCGGAGGGGCTCA	0.572000													17	13					2.48551e-13	3.66498e-13	0.004990	1	0
DEK	7913	broad.mit.edu	37	6	18236822	18236822	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr6:18236822G>C	ENST00000397239.3	-	9	1355	c.908C>G	c.(907-909)tCt>tGt	p.S303C	DEK_ENST00000244776.7_Missense_Mutation_p.S269C	NM_003472.3	NP_003463.1	P35659	DEK_HUMAN	DEK oncogene	303	Asp/Glu-rich (acidic).				chromatin modification|regulation of transcription from RNA polymerase II promoter|signal transduction|transcription from RNA polymerase II promoter|viral genome replication	nucleus	DNA binding|histone binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	7	Ovarian(93;0.00769)|Breast(50;0.0495)	all_hematologic(90;0.053)	OV - Ovarian serous cystadenocarcinoma(7;0.00291)|all cancers(50;0.031)|Epithelial(50;0.0332)			ACTATCCTCAGACTCACTTTC	0.289000			T	NUP214	AML								5	42					0	0	0.000602	0	0
AMER1	139285	broad.mit.edu	37	X	63411982	63411982	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chrX:63411982C>A	ENST00000330258.3	-	2	1457	c.1185G>T	c.(1183-1185)gaG>gaT	p.E395D	AMER1_ENST00000403336.1_Missense_Mutation_p.E395D|AMER1_ENST00000374869.3_Missense_Mutation_p.E395D	NM_152424.3	NP_689637.3			APC membrane recruitment protein 1									p.0?(67)									ccttaacctcctcttcttcct	0.502000													18	32					4.75885e-15	7.38565e-15	0.004990	1	0
FOXC2	2303	broad.mit.edu	37	16	86602192	86602192	+	Silent	SNP	C	C	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr16:86602192C>G	ENST00000320354.4	+	1	1336	c.1251C>G	c.(1249-1251)gcC>gcG	p.A417A		NM_005251.2	NP_005242.1	Q99958	FOXC2_HUMAN	forkhead box C2 (MFH-1, mesenchyme forkhead 1)	417	Ala/Pro-rich.|Poly-Ala.				anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|embryonic viscerocranium morphogenesis|insulin receptor signaling pathway|lymphangiogenesis|metanephros development|negative regulation of transcription from RNA polymerase II promoter|neural crest cell fate commitment|Notch signaling pathway|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of cell adhesion mediated by integrin|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of vascular wound healing|regulation of blood vessel size|regulation of organ growth|regulation of sequence-specific DNA binding transcription factor activity|somitogenesis|ureteric bud development|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	transcription factor complex	chromatin DNA binding|DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	15						ccggggccgccgcggcGCAGG	0.761000									Late-onset Hereditary Lymphedema				4	9					0	0	0.009096	0	0
PARK2	5071	broad.mit.edu	37	6	162206851	162206851	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr6:162206851C>G	ENST00000366898.1	-	7	926	c.824G>C	c.(823-825)cGg>cCg	p.R275P	PARK2_ENST00000366892.1_Missense_Mutation_p.R275P|PARK2_ENST00000338468.3_Missense_Mutation_p.R84P|PARK2_ENST00000366894.1_Missense_Mutation_p.R84P|PARK2_ENST00000366896.1_Missense_Mutation_p.R126P|PARK2_ENST00000366897.1_Missense_Mutation_p.R247P	NM_004562.2	NP_004553.2	O60260	PRKN2_HUMAN	parkin RBR E3 ubiquitin protein ligase	275	SYT11 binding 2.		R -> W (in PARK2 and PARK; early and late onset; impairs the ability to ubiquitinate SNCAIP; dbSNP:rs34424986).		aggresome assembly|central nervous system development|mitochondrion degradation|negative regulation of actin filament bundle assembly|negative regulation of cell death|negative regulation of protein phosphorylation|negative regulation of release of cytochrome c from mitochondria|neuron death|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein monoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of autophagy|regulation of reactive oxygen species metabolic process	aggresome|cytosol|endoplasmic reticulum|Golgi apparatus|mitochondrion|nucleus|perinuclear region of cytoplasm	chaperone binding|PDZ domain binding|protein kinase binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046)		AACAAACTGCCGATCATTGAG	0.478000													6	11					0	0	0.001168	0	0
CERS5	91012	broad.mit.edu	37	12	50528463	50528463	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr12:50528463C>G	ENST00000317551.6	-	9	1019	c.895G>C	c.(895-897)Gag>Cag	p.E299Q	CERS5_ENST00000422340.2_Missense_Mutation_p.E241Q	NM_147190.2	NP_671723.1	Q8N5B7	CERS5_HUMAN	ceramide synthase 5	299	TLC.				ceramide biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity										TCCCAACTCTCAAAGAGGGTC	0.512000													37	101					0	0	0.005524	0	0
KRT27	342574	broad.mit.edu	37	17	38937451	38937451	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr17:38937451G>T	ENST00000301656.3	-	2	556	c.516C>A	c.(514-516)gaC>gaA	p.D172E		NM_181537.3	NP_853515.2	Q7Z3Y8	K1C27_HUMAN	keratin 27	172	Coil 1B.|Rod.					cytoplasm|intermediate filament	structural molecule activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(3)|skin(1)|stomach(1)	21		Breast(137;0.000812)				TTAGTCTGAAGTCATCAGCTG	0.333000													8	14					5.4927e-09	7.15881e-09	0.004482	1	0
TRIM58	25893	broad.mit.edu	37	1	248020656	248020656	+	Silent	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr1:248020656C>T	ENST00000366481.3	+	1	156	c.108C>T	c.(106-108)tgC>tgT	p.C36C		NM_015431.3	NP_056246.3	Q8NG06	TRI58_HUMAN	tripartite motif containing 58	36						intracellular	zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			ACAGCTTCTGCCTCAGGTGCA	0.726000													4	10					0	0	0.000602	0	0
ARHGAP1	392	broad.mit.edu	37	11	46701249	46701249	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr11:46701249G>T	ENST00000311956.4	-	11	1073	c.976C>A	c.(976-978)Cct>Act	p.P326T		NM_004308.2	NP_004299.1	Q07960	RHG01_HUMAN	Rho GTPase activating protein 1	326	Rho-GAP.				Rho protein signal transduction	cytosol|intracellular membrane-bounded organelle	SH3 domain binding|SH3/SH2 adaptor activity			endometrium(1)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	11		Lung NSC(402;1.76e-12)|all_lung(304;1.3e-11)		GBM - Glioblastoma multiforme(35;5.17e-06)|BRCA - Breast invasive adenocarcinoma(625;0.00112)|Lung(87;0.153)		AGGGGCTCAGGAAGCTCCCGG	0.617000													22	35					1.9806e-07	2.44285e-07	0.002299	1	0
ABCA2	20	broad.mit.edu	37	9	139913231	139913231	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr9:139913231C>A	ENST00000265662.5	-	13	1906	c.1759G>T	c.(1759-1761)Gag>Tag	p.E587*	ABCA2_ENST00000371605.3_Nonsense_Mutation_p.E586*|ABCA2_ENST00000492260.1_5'UTR|ABCA2_ENST00000341511.6_Nonsense_Mutation_p.E587*			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	586					cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		ACAATGCTCTCCTCGTCGTGG	0.647000													5	25					3.59834e-05	4.06744e-05	0.001168	1	0
FBLN7	129804	broad.mit.edu	37	2	112922696	112922696	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr2:112922696C>A	ENST00000331203.2	+	3	625	c.354C>A	c.(352-354)agC>agA	p.S118R	FBLN7_ENST00000472377.1_3'UTR|FBLN7_ENST00000409450.3_Missense_Mutation_p.S118R|FBLN7_ENST00000409903.1_Missense_Mutation_p.S118R|FBLN7_ENST00000409667.3_Missense_Mutation_p.S118R	NM_001128165.1|NM_153214.2	NP_001121637.1|NP_694946.2	Q53RD9	FBLN7_HUMAN	fibulin 7	118	Sushi.				cell adhesion	proteinaceous extracellular matrix	calcium ion binding|heparin binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						GGCCCAGCAGCGTGGTGTGTC	0.577000													40	41					5.20837e-25	9.54648e-25	0.008740	1	0
ZIC4	84107	broad.mit.edu	37	3	147108856	147108856	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr3:147108856C>A	ENST00000383075.3	-	4	1378	c.866G>T	c.(865-867)gGg>gTg	p.G289V	ZIC4_ENST00000472749.2_5'UTR|ZIC4_ENST00000473123.1_Missense_Mutation_p.G289V|ZIC4_ENST00000484399.1_Missense_Mutation_p.G289V|ZIC4_ENST00000491672.1_Missense_Mutation_p.G83V|ZIC4_ENST00000425731.3_Missense_Mutation_p.G327V|ZIC4_ENST00000525172.2_Missense_Mutation_p.G339V	NM_032153.5	NP_115529.2	Q8N9L1	ZIC4_HUMAN	Zic family member 4	289						nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						CGGCGAGCGCCCGTGCACCTT	0.662000													36	26					2.32173e-10	3.14194e-10	0.004878	1	0
MIR517A	574479	broad.mit.edu	37	19	54215528	54215528	+	RNA	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr19:54215528G>T	ENST00000385001.1	+	0	7					NR_030201.1																						aaGATCTCAGGCAGTGACCCT	0.493000													16	32					2.48551e-13	3.66498e-13	0.004990	1	0
RCC1	1104	broad.mit.edu	37	1	28861844	28861844	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr1:28861844G>T	ENST00000373833.6	+	9	898	c.613G>T	c.(613-615)Ggc>Tgc	p.G205C	RCC1_ENST00000373831.3_Missense_Mutation_p.G236C|RCC1_ENST00000373832.1_Missense_Mutation_p.G205C|RCC1_ENST00000398958.2_Missense_Mutation_p.G205C|RCC1_ENST00000429051.1_3'UTR			P18754	RCC1_HUMAN	regulator of chromosome condensation 1	205					cell division|chromosome segregation|G1/S transition of mitotic cell cycle|mitosis|mitotic spindle organization|regulation of mitosis|regulation of S phase of mitotic cell cycle|spindle assembly|viral reproduction	condensed nuclear chromosome|cytoplasm|nuclear chromatin|nuclear membrane|nucleoplasm	histone binding|nucleosomal DNA binding|Ran guanyl-nucleotide exchange factor activity			breast(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;0.000318)|all_lung(284;0.000434)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.00989)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)|Medulloblastoma(700;0.123)		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|KIRC - Kidney renal clear cell carcinoma(1967;0.0101)|BRCA - Breast invasive adenocarcinoma(304;0.022)|READ - Rectum adenocarcinoma(331;0.0649)		GGGCCAGCTAGGCCGTGTGCC	0.587000													15	34					3.27435e-08	4.13002e-08	0.002450	1	0
KRTAP13-1	140258	broad.mit.edu	37	21	31768821	31768821	+	Silent	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr21:31768821C>A	ENST00000355459.2	+	1	430	c.417C>A	c.(415-417)tcC>tcA	p.S139S		NM_181599.2	NP_853630.2	Q8IUC0	KR131_HUMAN	keratin associated protein 13-1	139						intermediate filament				endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GCTTCCCTTCCCTGGGCTATG	0.572000													6	38					5.9392e-07	7.12507e-07	0.001168	1	0
ARNT	405	broad.mit.edu	37	1	150811989	150811989	+	Silent	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr1:150811989G>A	ENST00000358595.5	-	6	614	c.414C>T	c.(412-414)caC>caT	p.H138H	ARNT_ENST00000515192.1_Silent_p.H129H|ARNT_ENST00000505755.1_Silent_p.H123H|ARNT_ENST00000354396.2_Silent_p.H138H	NM_001197325.1|NM_001668.3|NM_178427.2	NP_001184254.1|NP_001659.1|NP_848514.1	P27540	ARNT_HUMAN	aryl hydrocarbon receptor nuclear translocator	138	Helix-loop-helix motif.				positive regulation of hormone biosynthetic process|positive regulation vascular endothelial growth factor production|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|response to hypoxia		aryl hydrocarbon receptor binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|prostate(2)|skin(4)|stomach(1)	34	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.02)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211)			AGGACTTCATGTGAGAAACTG	0.498000			T	ETV6	AML								55	69					0	0	0.003610	0	0
CELSR3	1951	broad.mit.edu	37	3	48697443	48697443	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr3:48697443G>T	ENST00000544264.1	-	1	2905	c.2625C>A	c.(2623-2625)agC>agA	p.S875R	CELSR3_ENST00000164024.4_Missense_Mutation_p.S875R			Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	875	Cadherin 6.				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		ccactatggtgctacccattg	0.517000													27	16					3.73808e-20	6.45912e-20	0.005443	1	0
FCGR2B	2213	broad.mit.edu	37	1	161645088	161645088	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr1:161645088C>A	ENST00000367962.4	+	6	929	c.802C>A	c.(802-804)Ctc>Atc	p.L268I	FCGR2B_ENST00000367961.4_Missense_Mutation_p.L261I|FCGR2B_ENST00000367960.5_Missense_Mutation_p.L261I|FCGR2B_ENST00000236937.9_Intron|FCGR2B_ENST00000403078.3_Intron|FCGR2B_ENST00000358671.5_Missense_Mutation_p.L268I			P31994	FCG2B_HUMAN	Fc fragment of IgG, low affinity IIb, receptor (CD32)	268					immune response|interspecies interaction between organisms|regulation of immune response	integral to membrane|plasma membrane	IgG binding|receptor activity					all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	GGGAGAGACCCTCCCTGAGAA	0.602000			T	?	ALL								6	14					2.7689e-08	3.51698e-08	0.001984	1	0
FCGBP	8857	broad.mit.edu	37	19	40433917	40433917	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr19:40433917C>A	ENST00000221347.6	-	2	359	c.352G>T	c.(352-354)Gtg>Ttg	p.V118L		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	118	IgGFc-binding.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			AGTGCCTGCACAGAGATGGCA	0.577000													12	25					1.61879e-10	2.19888e-10	0.001368	1	0
CSNK2A3	283106	broad.mit.edu	37	11	11373917	11373917	+	Silent	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr11:11373917C>A	ENST00000528848.2	-	1	987	c.750G>T	c.(748-750)ggG>ggT	p.G250G	GALNT18_ENST00000227756.4_Intron	NM_001256686.1	NP_001243615.1			casein kinase 2, alpha 3 polypeptide																		AATCTTCTGTCCCCAGAAACT	0.418000													8	92					2.4624e-09	3.23847e-09	0.008871	1	0
GRAMD1C	54762	broad.mit.edu	37	3	113659180	113659180	+	Silent	SNP	G	G	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr3:113659180G>C	ENST00000358160.4	+	17	2388	c.1896G>C	c.(1894-1896)gtG>gtC	p.V632V	GRAMD1C_ENST00000472026.1_Silent_p.V465V|GRAMD1C_ENST00000452134.2_Silent_p.V361V|GRAMD1C_ENST00000440446.2_Silent_p.V427V|GRAMD1C_ENST00000479212.1_3'UTR	NM_017577.4	NP_060047.3	Q8IYS0	GRM1C_HUMAN	GRAM domain containing 1C	632						integral to membrane				NS(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	26						ACTCCATAGTGATGCTTGAAC	0.408000													31	94					0	0	0.003271	0	0
SLC6A10P	386757	broad.mit.edu	37	16	32890622	32890622	+	RNA	SNP	T	T	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr16:32890622T>G	ENST00000330048.5	-	0	3176					NR_003083.2																						CGTTGGTGTTTTTGTAGACCA	0.617000													3	21					0	0	0.009096	0	0
SORCS1	114815	broad.mit.edu	37	10	108339228	108339228	+	Silent	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr10:108339228G>T	ENST00000263054.6	-	25	3277	c.3270C>A	c.(3268-3270)ccC>ccA	p.P1090P	SORCS1_ENST00000369698.1_Silent_p.P625P|SORCS1_ENST00000344440.6_Silent_p.P1090P	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	1090						integral to membrane	neuropeptide receptor activity|protein binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		GGTCCACCAGGGGGGCTTGTG	0.512000													6	21					0.00307968	0.00326216	0.003080	1	0
SP100	6672	broad.mit.edu	37	2	231406611	231406611	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr2:231406611G>A	ENST00000340126.4	+	28	2439	c.2408G>A	c.(2407-2409)aGa>aAa	p.R803K	AC010149.4_ENST00000455357.1_RNA|AC010149.4_ENST00000414539.1_RNA	NM_001080391.1	NP_001073860.1	P23497	SP100_HUMAN	SP100 nuclear antigen	0					DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|interspecies interaction between organisms|negative regulation of cellular component movement|negative regulation of DNA binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of viral transcription|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to cytokine stimulus|response to retinoic acid|response to type I interferon	cytoplasm|nuclear periphery|nucleolus|PML body	chromo shadow domain binding|DNA binding|identical protein binding|kinase binding|protein homodimerization activity|transcription coactivator activity|transcription corepressor activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1)	25		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		CAACAGAACAGAGAGGGGTCT	0.473000													11	44					0	0	0.008291	0	0
DMD	1756	broad.mit.edu	37	X	32717312	32717312	+	Nonsense_Mutation	SNP	C	C	A	rs128626239		TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chrX:32717312C>A	ENST00000357033.4	-	8	954	c.748G>T	c.(748-750)Gaa>Taa	p.E250*	DMD_ENST00000378677.2_Nonsense_Mutation_p.E246*|DMD_ENST00000288447.4_Nonsense_Mutation_p.E242*	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	250					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				ATTTCCACTTCCTGGATGGCT	0.393000													22	61					1.28384e-07	1.58482e-07	0.001882	1	0
OR51B2	79345	broad.mit.edu	37	11	5344970	5344970	+	Silent	SNP	A	A	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr11:5344970A>G	ENST00000328813.2	-	1	612	c.558T>C	c.(556-558)gcT>gcC	p.A186A	HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron	NM_033180.4	NP_149420.4	Q9Y5P1	O51B2_HUMAN	olfactory receptor, family 51, subfamily B, member 2	186					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|biliary_tract(1)|central_nervous_system(1)|large_intestine(6)|lung(21)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGTCAGCACAAGCCAGTCTCA	0.373000													8	54					0	0	0.004482	0	0
ZNF215	7762	broad.mit.edu	37	11	6977037	6977037	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr11:6977037C>A	ENST00000278319.5	+	7	1417	c.829C>A	c.(829-831)Cag>Aag	p.Q277K	ZNF215_ENST00000414517.2_Missense_Mutation_p.Q277K|ZNF215_ENST00000529903.1_Intron|ZNF215_ENST00000527171.1_3'UTR	NM_013250.2	NP_037382.2	Q9UL58	ZN215_HUMAN	zinc finger protein 215	277					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(4)	32				Epithelial(150;6.33e-08)|BRCA - Breast invasive adenocarcinoma(625;0.134)		ATATAGGAACCAGAAAAAATG	0.393000													36	86					1.07121e-22	1.90788e-22	0.006999	1	0
PRKCH	5583	broad.mit.edu	37	14	61920037	61920037	+	Missense_Mutation	SNP	T	T	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr14:61920037T>G	ENST00000332981.5	+	7	1311	c.926T>G	c.(925-927)aTg>aGg	p.M309R	PRKCH_ENST00000555082.1_Missense_Mutation_p.M148R	NM_006255.3	NP_006246.2	P24723	KPCL_HUMAN	protein kinase C, eta	309					intracellular signal transduction|platelet activation	cytosol|plasma membrane	ATP binding|enzyme binding|metal ion binding|protein kinase C activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(4)|ovary(2)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25				OV - Ovarian serous cystadenocarcinoma(108;0.045)|BRCA - Breast invasive adenocarcinoma(234;0.0906)|KIRC - Kidney renal clear cell carcinoma(182;0.182)		CTGGCAGGGATGGGTCTCCAA	0.468000													4	33					0	0	0.009096	0	0
IGSF1	3547	broad.mit.edu	37	X	130409233	130409233	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chrX:130409233G>A	ENST00000370904.1	-	23	4095	c.3185C>T	c.(3184-3186)gCc>gTc	p.A1062V	IGSF1_ENST00000361420.3_Missense_Mutation_p.A1071V|IGSF1_ENST00000370903.3_Missense_Mutation_p.A1076V|IGSF1_ENST00000370910.1_Missense_Mutation_p.A1062V			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	1071					regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						ACCAGGCTGGGCTAATAGGCT	0.537000													34	80					0	0	0.004289	0	0
TTN	7273	broad.mit.edu	37	2	179434111	179434111	+	Missense_Mutation	SNP	A	A	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr2:179434111A>G	ENST00000589042.1	-	326	76972	c.76748T>C	c.(76747-76749)tTa>tCa	p.L25583S	TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.L16518S|TTN_ENST00000342175.6_Missense_Mutation_p.L16710S|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.L23015S|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.L16643S|TTN_ENST00000591111.1_Missense_Mutation_p.L23942S|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586452.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	23942	Fibronectin type-III 86.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCTGTTTTCTAATGTAAGCGT	0.413000													32	110					0	0	0.008361	0	0
UNC5D	137970	broad.mit.edu	37	8	35583812	35583812	+	Missense_Mutation	SNP	A	A	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr8:35583812A>C	ENST00000287272.2	+	9	1259	c.1239A>C	c.(1237-1239)aaA>aaC	p.K413N	UNC5D_ENST00000449677.1_Missense_Mutation_p.K58N|UNC5D_ENST00000404895.2_Missense_Mutation_p.K482N|UNC5D_ENST00000416672.1_Missense_Mutation_p.K487N|UNC5D_ENST00000453357.2_Missense_Mutation_p.K477N|UNC5D_ENST00000420357.1_Missense_Mutation_p.K415N			Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	482					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)		CGGACATCAAAGTGAAAGTCC	0.522000													5	15					0	0	0.000602	0	0
MORC4	79710	broad.mit.edu	37	X	106228325	106228325	+	Splice_Site	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chrX:106228325C>A	ENST00000355610.4	-	5	949		c.e5+1		MORC4_ENST00000255495.7_Splice_Site|MORC4_ENST00000535534.1_Intron	NM_001085354.2|NM_024657.4	NP_001078823.1|NP_078933.3	Q8TE76	MORC4_HUMAN	MORC family CW-type zinc finger 4								ATP binding|zinc ion binding			endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	28						GAATACTATACCTGCGGATGT	0.348000													27	47					2.65835e-16	4.24397e-16	0.007291	1	0
SFMBT2	57713	broad.mit.edu	37	10	7290516	7290516	+	Silent	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr10:7290516C>T	ENST00000361972.4	-	8	1056	c.966G>A	c.(964-966)gtG>gtA	p.V322V	SFMBT2_ENST00000397167.1_Silent_p.V322V	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	322					regulation of transcription, DNA-dependent	nucleus				NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						CCACCTTAGTCACCGACGCAG	0.493000													8	14					0	0	0.006214	0	0
CIDEB	27141	broad.mit.edu	37	14	24775613	24775613	+	Silent	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr14:24775613C>T	ENST00000336557.5	-	6	1605	c.303G>A	c.(301-303)gtG>gtA	p.V101V	CIDEB_ENST00000554411.1_Silent_p.V101V|NOP9_ENST00000267425.3_3'UTR|CIDEB_ENST00000556756.1_5'UTR|CIDEB_ENST00000258807.5_Silent_p.V101V			Q9UHD4	CIDEB_HUMAN	cell death-inducing DFFA-like effector b	101	CIDE-N.				apoptosis|DNA damage response, signal transduction resulting in induction of apoptosis	cytosol				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|urinary_tract(1)	7				GBM - Glioblastoma multiforme(265;0.0181)		CAGACTGCAACACCATCAGGC	0.552000													17	110					0	0	0.008871	0	0
ILF2	3608	broad.mit.edu	37	1	153635230	153635230	+	Silent	SNP	G	G	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr1:153635230G>C	ENST00000361891.4	-	13	1088	c.963C>G	c.(961-963)ctC>ctG	p.L321L	ILF2_ENST00000480213.1_5'UTR	NM_001267809.1|NM_004515.3	NP_001254738.1|NP_004506.2	Q12905	ILF2_HUMAN	interleukin enhancer binding factor 2	321	DZF.				immune response|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus|ribonucleoprotein complex	ATP binding|DNA binding|double-stranded RNA binding|protein binding|transferase activity			cervix(1)|kidney(1)|lung(4)|skin(1)	7	all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			CACCATGTGAGAGGATTCGGA	0.468000													25	95					0	0	0.004656	0	0
SNX29	92017	broad.mit.edu	37	16	12492348	12492348	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr16:12492348G>T	ENST00000566228.1	+	17	2014	c.1945G>T	c.(1945-1947)Gat>Tat	p.D649Y	SNX29_ENST00000306030.3_Missense_Mutation_p.D264Y|SNX29_ENST00000323433.4_Missense_Mutation_p.D264Y	NM_032167.3	NP_115543.3	Q8TEQ0	SNX29_HUMAN	sorting nexin 29	264					cell communication		phosphatidylinositol binding			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	7						GAGTTTGTCGGATTTTGAAAT	0.488000													24	51					1.32181e-22	2.35133e-22	0.007291	1	0
BUB1	699	broad.mit.edu	37	2	111431761	111431761	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr2:111431761C>G	ENST00000535254.1	-	2	134	c.67G>C	c.(67-69)Gaa>Caa	p.E23Q	BUB1_ENST00000409311.1_Missense_Mutation_p.E43Q|BUB1_ENST00000302759.6_Missense_Mutation_p.E43Q	NM_001278616.1	NP_001265545.1	O43683	BUB1_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase	43	BUB1 N-terminal.|Necessary for kinetochore localization.				apoptosis|cell division|chromosome segregation|interspecies interaction between organisms|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|regulation of sister chromatid cohesion	condensed chromosome kinetochore|cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			breast(3)|endometrium(8)|kidney(4)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|stomach(1)	45		Ovarian(717;0.0822)		BRCA - Breast invasive adenocarcinoma(221;0.0556)		ATCAAGTATTCTTTATTCTCA	0.289000													10	38					0	0	0.008291	0	0
ARHGAP19-SLIT1	100533184	broad.mit.edu	37	10	99016090	99016090	+	Silent	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr10:99016090G>A	ENST00000453547.2	-	6	911	c.912C>T	c.(910-912)tcC>tcT	p.S304S	ARHGAP19-SLIT1_ENST00000316676.8_Silent_p.S304S|ARHGAP19_ENST00000371027.1_Silent_p.S295S|ARHGAP19-SLIT1_ENST00000358308.3_Intron|ARHGAP19_ENST00000358531.4_Silent_p.S304S|ARHGAP19_ENST00000487035.1_Intron|ARHGAP19_ENST00000355366.5_Silent_p.S295S																							AAAGTTTCTGGGAGTGTTTAA	0.393000													5	142					0	0	0.001984	0	0
RNF130	55819	broad.mit.edu	37	5	179393827	179393827	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr5:179393827C>T	ENST00000522208.2	-	7	1147	c.1129G>A	c.(1129-1131)Gaa>Aaa	p.E377K	RNF130_ENST00000261947.4_Missense_Mutation_p.E377K|RNF130_ENST00000521389.1_Missense_Mutation_p.E377K			Q86XS8	GOLI_HUMAN	ring finger protein 130	377					apoptosis	cytoplasm|integral to membrane|nucleus	ubiquitin-protein ligase activity|zinc ion binding			breast(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	17	all_cancers(89;5.49e-05)|all_epithelial(37;1.94e-05)|Renal(175;0.000159)|Lung NSC(126;0.00118)|all_lung(126;0.00212)	all_cancers(40;0.0294)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ATGTTGATTTCTCCTGTTCTC	0.587000													11	6					0	0	0.000978	0	0
CERKL	375298	broad.mit.edu	37	2	182403888	182403888	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr2:182403888G>T	ENST00000410087.3	-	12	1569	c.1469C>A	c.(1468-1470)gCt>gAt	p.A490D	CERKL_ENST00000409440.3_Missense_Mutation_p.A472D|CERKL_ENST00000339098.5_Missense_Mutation_p.A516D|CERKL_ENST00000374969.2_Missense_Mutation_p.A377D|CERKL_ENST00000374970.2_Missense_Mutation_p.A421D	NM_001030311.2|NM_201548.4	NP_001025482.1|NP_963842.1	Q49MI3	CERKL_HUMAN	ceramide kinase-like	516					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis	endoplasmic reticulum|Golgi apparatus|nucleolus	diacylglycerol kinase activity			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(13)|ovary(3)|skin(3)	32			OV - Ovarian serous cystadenocarcinoma(117;0.088)			ATTTTCTGAAGCAGTTTCATC	0.373000													119	70					1.90269e-63	3.7332e-63	0.003610	1	0
RHOBTB2	23221	broad.mit.edu	37	8	22864676	22864676	+	Silent	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr8:22864676G>T	ENST00000251822.6	+	5	1455	c.918G>T	c.(916-918)ggG>ggT	p.G306G	RP11-875O11.1_ENST00000523884.1_RNA|RHOBTB2_ENST00000519685.1_Silent_p.G328G|RP11-875O11.1_ENST00000502083.2_RNA|RHOBTB2_ENST00000522948.1_Silent_p.G313G	NM_015178.2	NP_055993.2	Q9BYZ6	RHBT2_HUMAN	Rho-related BTB domain containing 2	306	BTB 1.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	31		Prostate(55;0.0513)|Breast(100;0.214)		Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)		GGGAGCTGGGGGGCCCCTCGG	0.622000													13	31					1.52009e-12	2.1967e-12	0.003163	1	0
LOC220729	220729	broad.mit.edu	37	3	197346729	197346729	+	RNA	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr3:197346729C>T	ENST00000418868.1	-	0	715					NR_003266.2																						GCAAAATACTCCACAAAACAG	0.423000													13	44					0	0	0.001855	0	0
GDI1	2664	broad.mit.edu	37	X	153670947	153670947	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chrX:153670947G>T	ENST00000447750.2	+	11	1607	c.1272G>T	c.(1270-1272)atG>atT	p.M424I	GDI1_ENST00000465640.1_3'UTR	NM_001493.2	NP_001484.1	P31150	GDIA_HUMAN	GDP dissociation inhibitor 1	424					protein transport|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|midbody	GTPase activator activity|protein binding			autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	16	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)					ACAAACGCATGGCTGGCACGG	0.547000													19	79					1.40151e-16	2.25487e-16	0.010504	1	0
KLHL1	57626	broad.mit.edu	37	13	70293684	70293684	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr13:70293684C>A	ENST00000377844.4	-	9	2591	c.1832G>T	c.(1831-1833)aGt>aTt	p.S611I	KLHL1_ENST00000545028.1_Missense_Mutation_p.S418I	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	611					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding	p.S611I(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		CAAACAGGAACTTCCATCACG	0.388000													15	9					1.3612e-06	1.61295e-06	0.003163	1	0
BCL6	604	broad.mit.edu	37	3	187447769	187447769	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr3:187447769C>G	ENST00000406870.2	-	5	790	c.424G>C	c.(424-426)Gag>Cag	p.E142Q	BCL6_ENST00000232014.4_Missense_Mutation_p.E142Q|RP11-211G3.3_ENST00000449623.1_Intron|BCL6_ENST00000450123.2_Missense_Mutation_p.E142Q|RP11-211G3.3_ENST00000437407.1_Intron	NM_001706.4	NP_001697.2	P41182	BCL6_HUMAN	B-cell CLL/lymphoma 6	142					negative regulation of B cell apoptosis|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|protein import into nucleus, translocation|regulation of germinal center formation|response to DNA damage stimulus	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(9)|lung(10)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	40	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)		TTGAGGAACTCTTCACGAGGA	0.527000			"""T, Mis"""	"""IG loci, ZNFN1A1, LCP1, PIM1, TFRC, CIITA, NACA, HSPCB, HSPCA, HIST1H4I, IL21R,  POU2AF1, ARHH, EIF4A2, SFRS3"""	"""NHL, CLL"""								7	115					0	0	0.001984	0	0
NR4A2	4929	broad.mit.edu	37	2	157186008	157186008	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr2:157186008C>A	ENST00000339562.4	-	3	1053	c.691G>T	c.(691-693)Ggc>Tgc	p.G231C	NR4A2_ENST00000429376.1_Missense_Mutation_p.G168C|NR4A2_ENST00000426264.1_Missense_Mutation_p.G168C|NR4A2_ENST00000409572.1_Missense_Mutation_p.G231C|NR4A2_ENST00000409108.2_Missense_Mutation_p.G231C|NR4A2_ENST00000539077.1_Missense_Mutation_p.G242C	NM_006186.3	NP_006177.1	P43354	NR4A2_HUMAN	nuclear receptor subfamily 4, group A, member 2	231	Pro-rich.				cellular response to extracellular stimulus|dopaminergic neuron differentiation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus	nucleoplasm	sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	40						CCCGGGAAGCCCATGGACGCG	0.721000													9	17					2.17888e-05	2.47646e-05	0.006214	1	0
SDF2	6388	broad.mit.edu	37	17	26982305	26982305	+	Splice_Site	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr17:26982305C>A	ENST00000247020.4	-	2	646	c.348_splice	c.e2+1	p.Q116_splice	SDF2_ENST00000592250.1_5'UTR	NM_006923.3	NP_008854.2	Q99470	SDF2_HUMAN	stromal cell-derived factor 2	116	MIR 2.				protein glycosylation	extracellular space|membrane	dolichyl-phosphate-mannose-protein mannosyltransferase activity			endometrium(1)|large_intestine(2)|lung(2)|prostate(2)	7	Lung NSC(42;0.00431)					GCCACCTCACCTGGTTTCCAG	0.483000													16	62					1.15088e-07	1.42433e-07	0.004007	1	0
FIGLA	344018	broad.mit.edu	37	2	71012617	71012617	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr2:71012617C>A	ENST00000332372.6	-	3	543	c.539G>T	c.(538-540)gGt>gTt	p.G180V		NM_001004311.3	NP_001004311.2	Q6QHK4	FIGLA_HUMAN	folliculogenesis specific basic helix-loop-helix	180					multicellular organismal development|oocyte development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcription factor complex	DNA binding|transcription factor binding			endometrium(2)|lung(3)	5						TGCTGGCTCACCACTGCCACC	0.483000													101	351					1.50986e-39	2.92284e-39	0.003610	1	0
BAI3	577	broad.mit.edu	37	6	70071016	70071016	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr6:70071016G>T	ENST00000370598.1	+	29	4672	c.3851G>T	c.(3850-3852)tGt>tTt	p.C1284F	BAI3_ENST00000546190.1_Missense_Mutation_p.C248F|BAI3_ENST00000238918.8_Missense_Mutation_p.C490F	NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	1284					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				GTGTACTTATGTACGGATGAT	0.403000													12	43					1.36491e-13	2.04173e-13	0.001855	1	0
SLC9A9	285195	broad.mit.edu	37	3	142985726	142985726	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr3:142985726C>A	ENST00000316549.6	-	16	1964	c.1756G>T	c.(1756-1758)Gaa>Taa	p.E586*		NM_173653.3	NP_775924.1	Q8IVB4	SL9A9_HUMAN	solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9	586					regulation of pH	integral to membrane|late endosome membrane|recycling endosome	sodium:hydrogen antiporter activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(13)|lung(29)|ovary(2)|skin(3)|stomach(1)	57						ATGGCTAGTTCATCCTGGTTT	0.493000													53	40					2.48254e-18	4.14616e-18	0.003610	1	0
CCDC77	84318	broad.mit.edu	37	12	547537	547537	+	Silent	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr12:547537C>T	ENST00000239830.4	+	10	1037	c.858C>T	c.(856-858)acC>acT	p.T286T	CCDC77_ENST00000422000.1_Silent_p.T254T|CCDC77_ENST00000540180.1_Silent_p.T254T|CCDC77_ENST00000412006.2_Silent_p.T254T	NM_032358.3	NP_115734.1	Q9BR77	CCD77_HUMAN	coiled-coil domain containing 77	286						centrosome				cervix(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(10;0.0149)|all_epithelial(11;0.035)|all_lung(10;0.111)|Ovarian(42;0.142)|Lung NSC(10;0.156)		OV - Ovarian serous cystadenocarcinoma(31;0.00123)|BRCA - Breast invasive adenocarcinoma(9;0.033)			ATGAGAGCACCAAAGATTTTC	0.393000													23	35					0	0	0.004656	0	0
PCDH10	57575	broad.mit.edu	37	4	134084222	134084222	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr4:134084222G>C	ENST00000264360.4	+	4	3714	c.2888G>C	c.(2887-2889)gGa>gCa	p.G963A		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	963					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		CCTTCTGATGGACGCCAGGCT	0.522000													27	29					0	0	0.003954	0	0
IFNLR1	163702	broad.mit.edu	37	1	24484118	24484118	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr1:24484118C>G	ENST00000327535.1	-	7	1077	c.1065G>C	c.(1063-1065)caG>caC	p.Q355H	IFNLR1_ENST00000327575.2_3'UTR|IFNLR1_ENST00000374421.3_Missense_Mutation_p.Q326H	NM_170743.3|NM_173064.2	NP_734464.1|NP_775087.1			interferon, lambda receptor 1																		GCCCTGGAGCCTGGTGCTCTT	0.597000													17	24					0	0	0.004990	0	0
PCDHGA6	56109	broad.mit.edu	37	5	140754055	140754055	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr5:140754055G>T	ENST00000517434.1	+	1	405	c.405G>T	c.(403-405)aaG>aaT	p.K135N	PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1														breast(1)|large_intestine(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GATTCTTAAAGGAAGAATTGG	0.428000													16	21					3.32936e-07	4.041e-07	0.006122	1	0
LAMC2	3918	broad.mit.edu	37	1	183189969	183189969	+	Silent	SNP	A	A	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr1:183189969A>G	ENST00000264144.4	+	5	578	c.513A>G	c.(511-513)tcA>tcG	p.S171S	LAMC2_ENST00000493293.1_Silent_p.S171S	NM_005562.2	NP_005553.2	Q13753	LAMC2_HUMAN	laminin, gamma 2	171	Laminin EGF-like 3.				cell adhesion|epidermis development|hemidesmosome assembly		heparin binding			breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						GGTGTCGATCAGGTTACTATA	0.448000													7	29					0	0	0.004482	0	0
PTPRF	5792	broad.mit.edu	37	1	44071284	44071284	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr1:44071284G>T	ENST00000359947.4	+	19	3814	c.3474G>T	c.(3472-3474)gaG>gaT	p.E1158D	PTPRF_ENST00000438120.1_Missense_Mutation_p.E1149D|PTPRF_ENST00000372413.3_Missense_Mutation_p.E1149D|PTPRF_ENST00000372414.3_Missense_Mutation_p.E1158D|PTPRF_ENST00000422171.2_Missense_Mutation_p.E506D|PTPRF_ENST00000496447.1_3'UTR	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	1158					transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				AGGAACTGGAGCTGGACGAGG	0.627000													8	21					1.58986e-06	1.87775e-06	0.008291	1	0
DHX16	8449	broad.mit.edu	37	6	30638193	30638193	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr6:30638193C>A	ENST00000376442.3	-	4	855	c.660G>T	c.(658-660)aaG>aaT	p.K220N		NM_001164239.1|NM_003587.4	NP_001157711.1|NP_003578.2	O60231	DHX16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 16	220					mRNA processing|RNA splicing	nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity	p.K220N(1)|p.K220_A221>NS(1)		kidney(2)|ovary(2)	4						TCACCATGGCCTTCCGGTCTT	0.517000													7	45					8.12818e-05	9.0327e-05	0.001984	1	0
PYGL	5836	broad.mit.edu	37	14	51383714	51383714	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr14:51383714C>A	ENST00000216392.7	-	8	1297	c.965G>T	c.(964-966)gGt>gTt	p.G322V	PYGL_ENST00000544180.2_Missense_Mutation_p.G288V|PYGL_ENST00000532462.1_Missense_Mutation_p.G322V	NM_002863.4	NP_002854.3	P06737	PYGL_HUMAN	phosphorylase, glycogen, liver	322					glucose homeostasis|glucose metabolic process|glycogen catabolic process	cytosol|soluble fraction	AMP binding|ATP binding|bile acid binding|drug binding|glucose binding|glycogen phosphorylase activity|protein homodimerization activity|purine base binding|pyridoxal phosphate binding			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(3)	25	all_epithelial(31;0.00825)|Breast(41;0.148)				Adenosine monophosphate(DB00131)|Pyridoxal Phosphate(DB00114)|Riboflavin(DB00140)	AGTTCCTGCACCACGGGTGGA	0.498000													16	67					3.32936e-07	4.041e-07	0.006122	1	0
PAGE5	90737	broad.mit.edu	37	X	55248250	55248250	+	Silent	SNP	T	T	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chrX:55248250T>C	ENST00000289619.5	+	3	437	c.192T>C	c.(190-192)gaT>gaC	p.D64D	PAGE5_ENST00000374952.1_Silent_p.D44D|PAGE5_ENST00000374955.3_Silent_p.D44D	NM_130467.3	NP_569734.2	Q96GU1	GGEE1_HUMAN	P antigen family, member 5 (prostate associated)	64										breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	8						CACCAACTGATAATCAGGGTA	0.453000													8	14					0	0	0.001368	0	0
NINL	22981	broad.mit.edu	37	20	25457663	25457663	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr20:25457663C>T	ENST00000278886.6	-	17	2337	c.2264G>A	c.(2263-2265)aGa>aAa	p.R755K	NINL_ENST00000422516.1_Intron	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	755					G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						GGTCAGGTCTCTGCGAGCGGG	0.682000													6	15					0	0	0.001984	0	0
STRA8	346673	broad.mit.edu	37	7	134916754	134916754	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr7:134916754G>C	ENST00000275764.3	+	1	24	c.24G>C	c.(22-24)aaG>aaC	p.K8N		NM_182489.1	NP_872295.1	Q7Z7C7	STRA8_HUMAN	stimulated by retinoic acid 8	8					DNA replication|regulation of transcription, DNA-dependent	cytoplasm|nucleus				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|skin(1)|urinary_tract(1)	16						ATGTGGACAAGATCCTCTTTT	0.483000													52	27					0	0	0.003610	0	0
TPCN2	219931	broad.mit.edu	37	11	68851461	68851461	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr11:68851461C>T	ENST00000294309.3	+	19	1839	c.1738C>T	c.(1738-1740)Cgt>Tgt	p.R580C	TPCN2_ENST00000542467.1_Intron|TPCN2_ENST00000442692.2_3'UTR	NM_139075.3	NP_620714.2	Q8NHX9	TPC2_HUMAN	two pore segment channel 2	580					cellular calcium ion homeostasis|smooth muscle contraction	endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated calcium channel activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	32			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			GCAGAACATGCGTGCGTTTGG	0.662000													14	42					0	0	0.004990	0	0
TSPYL6	388951	broad.mit.edu	37	2	54482321	54482321	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr2:54482321G>T	ENST00000317802.7	-	1	1088	c.968C>A	c.(967-969)tCt>tAt	p.S323Y	ACYP2_ENST00000303536.4_Intron|ACYP2_ENST00000607452.1_Intron|ACYP2_ENST00000606865.1_Intron|ACYP2_ENST00000394666.3_Intron	NM_001003937.2	NP_001003937.2	Q8N831	TSYL6_HUMAN	TSPY-like 6	323					nucleosome assembly	nucleus				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(1)|ovary(1)|skin(1)|stomach(2)	20						AGTGGAAAAAGACACCACTTG	0.468000													28	57					8.58068e-18	1.41352e-17	0.007291	1	0
PPRC1	23082	broad.mit.edu	37	10	103898426	103898426	+	Silent	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr10:103898426G>T	ENST00000278070.2	+	3	432	c.393G>T	c.(391-393)ctG>ctT	p.L131L	PPRC1_ENST00000413464.2_Silent_p.L131L	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1	131					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding			central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		TCACGGCTCTGACGGAGATCT	0.512000													18	31					1.99824e-07	2.45832e-07	0.004990	1	0
SCN11A	11280	broad.mit.edu	37	3	38889159	38889159	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr3:38889159C>A	ENST00000302328.3	-	26	4600	c.4402G>T	c.(4402-4404)Gct>Tct	p.A1468S	SCN11A_ENST00000456224.3_Missense_Mutation_p.A1430S|SCN11A_ENST00000450244.1_Missense_Mutation_p.A1468S	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	1468					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	CCAATCCGAGCCAAGCGGACA	0.488000													8	20					0.00185496	0.00198227	0.001855	1	0
OR13J1	392309	broad.mit.edu	37	9	35869685	35869685	+	Silent	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr9:35869685G>A	ENST00000377981.2	-	1	776	c.714C>T	c.(712-714)ttC>ttT	p.F238F		NM_001004487.1	NP_001004487.1	Q8NGT2	O13J1_HUMAN	olfactory receptor, family 13, subfamily J, member 1	238					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|large_intestine(1)|lung(3)|skin(1)	6	all_epithelial(49;0.169)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00494)|STAD - Stomach adenocarcinoma(86;0.194)			AGCAGGTGGAGAAGGCTTTGC	0.567000													9	13					0	0	0.004482	0	0
FANK1	92565	broad.mit.edu	37	10	127693610	127693610	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr10:127693610G>A	ENST00000368695.1	+	7	801	c.679G>A	c.(679-681)Ggc>Agc	p.G227S	FANK1_ENST00000477963.1_3'UTR|FANK1_ENST00000368693.1_Missense_Mutation_p.G233S	NM_145235.3	NP_660278.3	Q8TC84	FANK1_HUMAN	fibronectin type III and ankyrin repeat domains 1	233						cytoplasm|nucleus				central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(10)|ovary(1)|urinary_tract(1)	21		all_lung(145;0.00752)|Lung NSC(174;0.0115)|Colorectal(57;0.0847)|all_neural(114;0.0936)				GATAAAGGATGGCTGTGAGGT	0.542000													37	72					0	0	0.005524	0	0
OR4K2	390431	broad.mit.edu	37	14	20345054	20345054	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr14:20345054T>A	ENST00000298642.2	+	1	664	c.628T>A	c.(628-630)Tgt>Agt	p.C210S		NM_001005501.1	NP_001005501.1	Q8NGD2	OR4K2_HUMAN	olfactory receptor, family 4, subfamily K, member 2	210					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TGCGTTGTCCTGTTTTATTGT	0.398000													16	109					0	0	0.006122	0	0
PNN	5411	broad.mit.edu	37	14	39644496	39644496	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr14:39644496G>T	ENST00000216832.4	+	1	80	c.13G>T	c.(13-15)Gtg>Ttg	p.V5L	PNN_ENST00000553331.1_Missense_Mutation_p.V5L|RP11-407N17.4_ENST00000556537.1_lincRNA|PNN_ENST00000556530.1_Missense_Mutation_p.V5L	NM_002687.3	NP_002678.2	Q9H307	PININ_HUMAN	pinin, desmosome associated protein	5	Necessary for interaction with RNPS1.|Necessary for interactions with KRT8, KRT18 and KRT19.|Necessary for mediating alternative 5' splicing.				cell adhesion|regulation of transcription, DNA-dependent|transcription, DNA-dependent	catalytic step 2 spliceosome|desmosome|intermediate filament|nuclear speck	DNA binding|protein binding|structural molecule activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)|stomach(1)	27	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0119)		GGCGGTCGCCGTGAGAACTTT	0.607000													51	14					6.03219e-31	1.14029e-30	0.003610	1	0
IL16	3603	broad.mit.edu	37	15	81517848	81517848	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr15:81517848C>A	ENST00000394660.2	+	2	468	c.108C>A	c.(106-108)agC>agA	p.S36R	IL16_ENST00000302987.4_Missense_Mutation_p.S36R	NM_001172128.1|NM_172217.3	NP_001165599.1|NP_757366.2	Q14005	IL16_HUMAN	interleukin 16	36					immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						ATGGCTCTAGCCCTGATGAGA	0.517000													18	19					5.35267e-07	6.44814e-07	0.007413	1	0
FHL1	2273	broad.mit.edu	37	X	135288703	135288703	+	Missense_Mutation	SNP	A	A	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chrX:135288703A>T	ENST00000543669.1	+	2	823	c.112A>T	c.(112-114)Aac>Tac	p.N38Y	FHL1_ENST00000394155.2_Missense_Mutation_p.N38Y|FHL1_ENST00000370683.1_Missense_Mutation_p.N54Y|FHL1_ENST00000370690.3_Missense_Mutation_p.N38Y|FHL1_ENST00000539015.1_Missense_Mutation_p.N67Y|FHL1_ENST00000535737.1_Missense_Mutation_p.N38Y|FHL1_ENST00000345434.3_Missense_Mutation_p.N38Y|FHL1_ENST00000477080.1_3'UTR|FHL1_ENST00000370676.3_Missense_Mutation_p.N54Y|FHL1_ENST00000394153.2_Missense_Mutation_p.N38Y	NM_001159704.1	NP_001153176.1	Q13642	FHL1_HUMAN	four and a half LIM domains 1	38					cell differentiation|cell growth|muscle organ development|organ morphogenesis	cytosol|nucleus|plasma membrane	protein binding|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(192;0.000127)					GTTCTGTGCCAACACCTGTGT	0.552000													37	114					0	0	0.006999	0	0
PCDHGA6	56109	broad.mit.edu	37	5	140754056	140754056	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr5:140754056G>T	ENST00000517434.1	+	1	406	c.406G>T	c.(406-408)Gaa>Taa	p.E136*	PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1														breast(1)|large_intestine(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATTCTTAAAGGAAGAATTGGA	0.428000													16	22					5.3912e-06	6.23519e-06	0.006122	1	0
SUCO	51430	broad.mit.edu	37	1	172539803	172539803	+	Splice_Site	SNP	A	A	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr1:172539803A>T	ENST00000367723.3	+	9	1583	c.1458_splice	c.e9-1	p.S487_splice	SUCO_ENST00000263688.3_Splice_Site_p.S328_splice	NM_016227.2	NP_057311.2			SUN domain containing ossification factor																		TTTAAAATAGAGCACATCTGC	0.269000													16	30					0	0	0.004990	0	0
CLEC18B	497190	broad.mit.edu	37	16	74455116	74455116	+	Missense_Mutation	SNP	A	A	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr16:74455116A>C	ENST00000339953.5	-	1	174	c.53T>G	c.(52-54)cTg>cGg	p.L18R		NM_001011880.2	NP_001011880.2	Q6UXF7	CL18B_HUMAN	C-type lectin domain family 18, member B	18						extracellular region	sugar binding			endometrium(3)|kidney(9)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						AAGGAGGGCCAGGAGCACAGC	0.682000													20	18					0	0	0.001882	0	0
OR10Z1	128368	broad.mit.edu	37	1	158576491	158576491	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr1:158576491G>T	ENST00000361284.1	+	1	263	c.263G>T	c.(262-264)gGg>gTg	p.G88V		NM_001004478.1	NP_001004478.1	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z, member 1	88					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37	all_hematologic(112;0.0378)					CTGGCTGGGGGGGACCAGGCT	0.552000													56	113					2.76378e-25	5.08508e-25	0.003610	1	0
CLP1	10978	broad.mit.edu	37	11	57428834	57428834	+	Silent	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr11:57428834C>T	ENST00000533682.1	+	3	1929	c.1204C>T	c.(1204-1206)Ctg>Ttg	p.L402L	CLP1_ENST00000302731.4_Silent_p.L338L|CLP1_ENST00000529430.1_Silent_p.L413L|CLP1_ENST00000525602.1_Silent_p.L402L			Q92989	CLP1_HUMAN	cleavage and polyadenylation factor I subunit 1	402					mRNA 3'-end processing|nuclear mRNA splicing, via spliceosome|siRNA loading onto RISC involved in RNA interference|targeting of mRNA for destruction involved in RNA interference|termination of RNA polymerase II transcription|tRNA splicing, via endonucleolytic cleavage and ligation	nucleoplasm|tRNA-intron endonuclease complex	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|ATP-dependent polyribonucleotide 5'-hydroxyl-kinase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|stomach(1)	15						GTTTACTGTTCTGTCTCCAGC	0.532000													12	75					0	0	0.001368	0	0
PAK3	5063	broad.mit.edu	37	X	110439096	110439096	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chrX:110439096C>A	ENST00000519681.1	+	16	1642	c.1200C>A	c.(1198-1200)caC>caA	p.H400Q	PAK3_ENST00000446737.1_Missense_Mutation_p.H379Q|PAK3_ENST00000417227.1_Missense_Mutation_p.H400Q|PAK3_ENST00000372007.4_Missense_Mutation_p.H379Q|PAK3_ENST00000372010.1_Missense_Mutation_p.H394Q|PAK3_ENST00000360648.4_Missense_Mutation_p.H415Q|PAK3_ENST00000262836.4_Missense_Mutation_p.H394Q|PAK3_ENST00000425146.1_Missense_Mutation_p.H379Q|PAK3_ENST00000518291.1_Missense_Mutation_p.H415Q			O75914	PAK3_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 3	394	Protein kinase.				multicellular organismal development		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding			breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						ATTTCCTGCACTCAAACCAGG	0.313000										TSP Lung(19;0.15)			36	111					1.58521e-26	2.94657e-26	0.005524	1	0
NUDT17	200035	broad.mit.edu	37	1	145586916	145586916	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr1:145586916C>T	ENST00000334513.5	-	7	783	c.772G>A	c.(772-774)Gtc>Atc	p.V258I		NM_001012758.2	NP_001012776.1	P0C025	NUD17_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 17	258							hydrolase activity|metal ion binding			endometrium(3)|large_intestine(1)|lung(2)|skin(1)|urinary_tract(2)	9	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					ATGTGCAGGACCAGAGGTCGG	0.532000													52	68					0	0	0.003610	0	0
NR4A3	8013	broad.mit.edu	37	9	102595026	102595026	+	Missense_Mutation	SNP	T	T	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr9:102595026T>G	ENST00000330847.1	+	3	1084	c.1040T>G	c.(1039-1041)gTa>gGa	p.V347G	NR4A3_ENST00000395097.2_Missense_Mutation_p.V336G|NR4A3_ENST00000338488.4_Missense_Mutation_p.V336G			Q92570	NR4A3_HUMAN	nuclear receptor subfamily 4, group A, member 3	336					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor		steroid hormone receptor activity|thyroid hormone receptor activity|zinc ion binding		TCF12/NR4A3(2)|TAF15/NR4A3(33)|EWSR1/NR4A3(146)|TFG/NR4A3(2)				Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189)				AACTGCCCAGTAGACAAGAGA	0.373000			T	EWSR1	extraskeletal myxoid chondrosarcoma								49	22					0	0	0.003610	0	0
POU4F3	5459	broad.mit.edu	37	5	145720006	145720006	+	Silent	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr5:145720006G>A	ENST00000230732.4	+	2	1105	c.1016G>A	c.(1015-1017)tGa>tAa	p.*339*	CTC-359M8.1_ENST00000515598.1_RNA	NM_002700.2	NP_002691.1	Q15319	PO4F3_HUMAN	POU class 4 homeobox 3	0					sensory perception of sound|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GCTGTCCACTGATTGCGGCAG	0.562000													4	17					0	0	0.000602	0	0
LAMP2	3920	broad.mit.edu	37	X	119582867	119582867	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chrX:119582867G>C	ENST00000371335.4	-	4	650	c.514C>G	c.(514-516)Ctt>Gtt	p.L172V	LAMP2_ENST00000434600.2_Missense_Mutation_p.L172V|LAMP2_ENST00000538785.1_Missense_Mutation_p.L61V|LAMP2_ENST00000540603.1_Missense_Mutation_p.L125V|LAMP2_ENST00000200639.4_Missense_Mutation_p.L172V	NM_013995.2	NP_054701.1	P13473	LAMP2_HUMAN	lysosomal-associated membrane protein 2	172	First lumenal domain.				platelet activation|platelet degranulation	endosome membrane|integral to membrane|late endosome|lysosomal membrane|membrane fraction|plasma membrane|platelet dense granule membrane				endometrium(4)|large_intestine(2)|lung(5)|ovary(2)|urinary_tract(2)	15						GCTTGTACAAGAACATCCCAG	0.358000													25	67					0	0	0.007291	0	0
ABCG8	64241	broad.mit.edu	37	2	44079810	44079810	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr2:44079810C>T	ENST00000272286.2	+	6	857	c.767C>T	c.(766-768)tCc>tTc	p.S256F		NM_022437.2	NP_071882.1	Q9H221	ABCG8_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 8	256	ABC transporter.				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				AAGACCTTGTCCAGGCTGGCC	0.572000													41	25					0	0	0.006999	0	0
RPF2	84154	broad.mit.edu	37	6	111320934	111320934	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr6:111320934G>T	ENST00000441448.2	+	6	429	c.337G>T	c.(337-339)Gtg>Ttg	p.V113L		NM_032194.1	NP_115570.1	Q9H7B2	RPF2_HUMAN	ribosome production factor 2 homolog (S. cerevisiae)	113	Brix.					nucleolus	protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|ovary(2)	7						TGACTACCATGTGCTGGATAT	0.333000													16	60					5.3912e-06	6.23519e-06	0.006122	1	0
TTN	7273	broad.mit.edu	37	2	179408970	179408970	+	Missense_Mutation	SNP	A	A	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr2:179408970A>G	ENST00000589042.1	-	345	96210	c.95986T>C	c.(95986-95988)Tac>Cac	p.Y31996H	TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.Y22931H|TTN_ENST00000342175.6_Missense_Mutation_p.Y23123H|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.Y29428H|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.Y23056H|TTN_ENST00000591111.1_Missense_Mutation_p.Y30355H|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586452.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	30355	Ig-like 142.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GATTCGCTGTATTCGCTCATA	0.403000													13	57					0	0	0.001368	0	0
PCDHGA6	56109	broad.mit.edu	37	5	140753848	140753848	+	Silent	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr5:140753848C>A	ENST00000517434.1	+	1	198	c.198C>A	c.(196-198)atC>atA	p.I66I	PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1												p.I66I(1)		breast(1)|large_intestine(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGTCCGCATCGTCTCCAGAG	0.592000													26	16					2.48779e-11	3.4738e-11	0.005443	1	0
DCAF8L1	139425	broad.mit.edu	37	X	27998524	27998524	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chrX:27998524C>A	ENST00000441525.1	-	1	1042	c.928G>T	c.(928-930)Gtt>Ttt	p.V310F		NM_001017930.1	NP_001017930.1	A6NGE4	DC8L1_HUMAN	DDB1 and CUL4 associated factor 8-like 1	310										NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						GTGAACACAACGGCATCTTCA	0.483000													13	24					0.00244969	0.00260437	0.002450	1	0
ZYG11B	79699	broad.mit.edu	37	1	53279551	53279551	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr1:53279551G>T	ENST00000294353.6	+	12	2058	c.1913G>T	c.(1912-1914)tGg>tTg	p.W638L	ZYG11B_ENST00000545132.1_3'UTR|ZYG11B_ENST00000443756.2_Missense_Mutation_p.W568L	NM_024646.2	NP_078922.1	Q9C0D3	ZY11B_HUMAN	zyg-11 family member B, cell cycle regulator	638							protein binding			breast(1)|endometrium(1)|kidney(6)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	30						ATTTTGAAATGGCCAACTCCA	0.353000													20	34					1.50039e-11	2.11339e-11	0.001882	1	0
ANK2	287	broad.mit.edu	37	4	114171000	114171000	+	Silent	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr4:114171000C>T	ENST00000357077.4	+	10	1025	c.972C>T	c.(970-972)ccC>ccT	p.P324P	ANK2_ENST00000394537.3_Silent_p.P324P|ANK2_ENST00000506722.1_Silent_p.P303P|ANK2_ENST00000264366.6_Silent_p.P324P	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	324					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		GGGGTGCCCCCTTGCTGGCAA	0.423000													8	9					0	0	0.004482	0	0
G6PC2	57818	broad.mit.edu	37	2	169764389	169764389	+	Silent	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr2:169764389C>T	ENST00000375363.3	+	5	960	c.868C>T	c.(868-870)Ctg>Ttg	p.L290L	G6PC2_ENST00000461586.1_3'UTR|SPC25_ENST00000472216.2_Intron	NM_021176.2	NP_066999.1	Q9NQR9	G6PC2_HUMAN	glucose-6-phosphatase, catalytic, 2	290					gluconeogenesis|glucose homeostasis|glucose transport|regulation of insulin secretion|transmembrane transport	endoplasmic reticulum membrane|integral to membrane	glucose-6-phosphatase activity			breast(1)|endometrium(1)|large_intestine(1)|lung(5)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	13						TAACTACACACTGAGCTTCCG	0.498000													15	94					0	0	0.002450	0	0
SLAMF1	6504	broad.mit.edu	37	1	160616732	160616732	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr1:160616732C>A	ENST00000302035.6	-	1	353	c.4G>T	c.(4-6)Gat>Tat	p.D2Y	SLAMF1_ENST00000235739.5_Missense_Mutation_p.D2Y|SLAMF1_ENST00000494463.1_5'UTR|SLAMF1_ENST00000355199.3_Missense_Mutation_p.D2Y|SLAMF1_ENST00000538290.1_Missense_Mutation_p.D2Y	NM_003037.2	NP_003028.1	Q13291	SLAF1_HUMAN	signaling lymphocytic activation molecule family member 1	2					interspecies interaction between organisms|lymphocyte activation|positive regulation of cell proliferation	integral to membrane	antigen binding|transmembrane receptor activity			breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(52;4.94e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			CCCTTGGGATCCATCAGCCAA	0.567000													4	16					0.00024832	0.000271987	0.009096	1	0
ZFPM2	23414	broad.mit.edu	37	8	106815547	106815547	+	Silent	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr8:106815547C>T	ENST00000407775.2	+	8	3487	c.3237C>T	c.(3235-3237)atC>atT	p.I1079I	ZFPM2_ENST00000520492.1_Silent_p.I947I|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000509144.2_RNA|RP11-152P17.2_ENST00000521622.1_RNA|RP11-152P17.2_ENST00000520594.1_RNA|ZFPM2_ENST00000378472.4_Silent_p.I810I|RP11-152P17.2_ENST00000524045.2_RNA|ZFPM2_ENST00000517361.1_Silent_p.I947I	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	1079					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			CCTCGTGGATCTCTGAGAACC	0.493000													7	17					0	0	0.001984	0	0
OR4S2	219431	broad.mit.edu	37	11	55418917	55418917	+	Missense_Mutation	SNP	C	C	G	rs140330182		TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr11:55418917C>G	ENST00000312422.2	+	1	538	c.538C>G	c.(538-540)Cac>Gac	p.H180D		NM_001004059.2	NP_001004059.2	Q8NH73	OR4S2_HUMAN	olfactory receptor, family 4, subfamily S, member 2	180					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(28)|ovary(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_epithelial(135;0.0748)				TTGTGATGTTCACCCTGTGTT	0.453000													50	120					0	0	0.003610	0	0
TCL1B	9623	broad.mit.edu	37	14	96152899	96152899	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr14:96152899G>T	ENST00000340722.7	+	1	146	c.95G>T	c.(94-96)tGg>tTg	p.W32L	RP11-1070N10.6_ENST00000461160.1_RNA	NM_004918.3	NP_004909.1	O95988	TCL1B_HUMAN	T-cell leukemia/lymphoma 1B	32										cervix(1)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		all_cancers(154;0.103)		COAD - Colon adenocarcinoma(157;0.205)|Epithelial(152;0.248)		GGGAGAACCTGGGTGACTGTG	0.647000													18	17					1.67942e-08	2.14255e-08	0.006122	1	0
OR13J1	392309	broad.mit.edu	37	9	35869736	35869736	+	Silent	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr9:35869736G>A	ENST00000377981.2	-	1	725	c.663C>T	c.(661-663)atC>atT	p.I221I		NM_001004487.1	NP_001004487.1	Q8NGT2	O13J1_HUMAN	olfactory receptor, family 13, subfamily J, member 1	221					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|large_intestine(1)|lung(3)|skin(1)	6	all_epithelial(49;0.169)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00494)|STAD - Stomach adenocarcinoma(86;0.194)			TGGTGGCCAGGATGAGCAAGT	0.617000													15	11					0	0	0.003163	0	0
KDM4A	9682	broad.mit.edu	37	1	44128655	44128655	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr1:44128655C>A	ENST00000372396.3	+	5	654	c.520C>A	c.(520-522)Cca>Aca	p.P174T	KDM4A_ENST00000463151.1_3'UTR	NM_014663.2	NP_055478.2	O75164	KDM4A_HUMAN	lysine (K)-specific demethylase 4A	174	JmjC.				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleolus	histone demethylase activity (H3-K36 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(13)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	37						TGTGAACACCCCATACCTGTA	0.493000													32	80					2.80507e-11	3.90552e-11	0.002445	1	0
TAOK2	9344	broad.mit.edu	37	16	29996620	29996620	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr16:29996620G>T	ENST00000308893.4	+	14	2552	c.1509G>T	c.(1507-1509)caG>caT	p.Q503H	TAOK2_ENST00000416441.2_Missense_Mutation_p.Q330H|TAOK2_ENST00000279394.3_Missense_Mutation_p.Q503H|TAOK2_ENST00000543033.1_Missense_Mutation_p.Q503H	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	503					actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						GACAGCACCAGAAGCAGCTGC	0.662000													17	44					3.45872e-05	3.9188e-05	0.004007	1	0
ZNF536	9745	broad.mit.edu	37	19	30934697	30934697	+	Silent	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr19:30934697C>A	ENST00000355537.3	+	2	375	c.228C>A	c.(226-228)ccC>ccA	p.P76P		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	76					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					GCGGCCAGCCCATGGGCAGTC	0.682000													9	23					0.00448238	0.0047135	0.004482	1	0
ZNF335	63925	broad.mit.edu	37	20	44578493	44578493	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr20:44578493C>G	ENST00000322927.2	-	24	3715	c.3615G>C	c.(3613-3615)gaG>gaC	p.E1205D	ZNF335_ENST00000426788.1_Missense_Mutation_p.E1050D	NM_022095.3	NP_071378.1	Q9H4Z2	ZN335_HUMAN	zinc finger protein 335	1205	Gln-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	51		Myeloproliferative disorder(115;0.0122)				CCGTGGTGATCTCTTGGATGT	0.597000													37	38					0	0	0.005524	0	0
PCDHB13	56123	broad.mit.edu	37	5	140595266	140595266	+	Missense_Mutation	SNP	T	T	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr5:140595266T>C	ENST00000341948.4	+	1	1758	c.1571T>C	c.(1570-1572)cTg>cCg	p.L524P		NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN		524	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TACGAGGCCCTGCAGGGGTTC	0.692000													31	52					0	0	0.003755	0	0
PRKD1	5587	broad.mit.edu	37	14	30068940	30068940	+	Missense_Mutation	SNP	A	A	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr14:30068940A>T	ENST00000331968.5	-	14	2218	c.1989T>A	c.(1987-1989)caT>caA	p.H663Q	PRKD1_ENST00000415220.2_Missense_Mutation_p.H671Q	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1	663	Protein kinase.				cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		GCATGTCTCCATGGAGTTTTT	0.378000													13	113					0	0	0.002450	0	0
GABRR2	2570	broad.mit.edu	37	6	89975382	89975382	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr6:89975382C>A	ENST00000402938.3	-	7	972	c.839G>T	c.(838-840)tGg>tTg	p.W280L	GABRR2_ENST00000602399.1_Missense_Mutation_p.W305L			P28476	GBRR2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 2	305					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(10)|prostate(2)|urinary_tract(1)	21		all_cancers(76;1.67e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.77e-07)|all_epithelial(107;2.51e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0158)		GAAGGACACCCAGGACAGCAT	0.468000													16	32					0.000566183	0.000615029	0.004990	1	0
SLC25A48	153328	broad.mit.edu	37	5	135207338	135207338	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr5:135207338G>C	ENST00000274513.5	+	5	782	c.610G>C	c.(610-612)Gag>Cag	p.E204Q	SLC25A48_ENST00000433282.2_Missense_Mutation_p.E150Q|SLC25A48_ENST00000420621.1_Missense_Mutation_p.E204Q|SLC25A48_ENST00000425402.1_Intron|SLC25A48_ENST00000412661.2_Intron			Q6ZT89	S2548_HUMAN	solute carrier family 25, member 48	204					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	10						GTTCCTGAGTGAGTGGATCAC	0.662000													6	22					0	0	0.001168	0	0
ROS1	6098	broad.mit.edu	37	6	117622204	117622204	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr6:117622204G>C	ENST00000368508.3	-	42	6864	c.6666C>G	c.(6664-6666)ttC>ttG	p.F2222L	ROS1_ENST00000368507.3_Missense_Mutation_p.F2216L	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase	2222	Protein kinase.				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		TGCTATTTAAGAAAAAATTTC	0.353000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""								27	42					0	0	0.006320	0	0
SPACA1	81833	broad.mit.edu	37	6	88773917	88773917	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr6:88773917G>T	ENST00000237201.1	+	6	828	c.711G>T	c.(709-711)ttG>ttT	p.L237F	SPACA1_ENST00000462690.1_Intron	NM_030960.2	NP_112222.1	Q9HBV2	SACA1_HUMAN	sperm acrosome associated 1	237			L -> S (in dbSNP:rs2276089).			integral to membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	20		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.11)		TTTTCTTATTGATCTTCATAA	0.398000													19	41					5.35267e-07	6.44814e-07	0.007413	1	0
AGO4	192670	broad.mit.edu	37	1	36299636	36299636	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr1:36299636G>T	ENST00000373210.3	+	12	1670	c.1425G>T	c.(1423-1425)atG>atT	p.M475I		NM_017629.3	NP_060099.2			argonaute RISC catalytic component 4																		ATGCAGGAATGCCCATCCAGG	0.433000													20	44					5.35356e-11	7.38985e-11	0.002780	1	0
FREM1	158326	broad.mit.edu	37	9	14824823	14824823	+	Silent	SNP	A	A	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr9:14824823A>T	ENST00000380881.4	-	12	2867	c.2052T>A	c.(2050-2052)acT>acA	p.T684T	FREM1_ENST00000380880.3_Silent_p.T683T|FREM1_ENST00000422223.2_Silent_p.T683T			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	683					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		ATGGAGGAGTAGTTATTGTGT	0.383000													8	6					0	0	0.003080	0	0
ZFHX4	79776	broad.mit.edu	37	8	77617213	77617213	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr8:77617213C>A	ENST00000521891.2	+	2	1338	c.890C>A	c.(889-891)gCt>gAt	p.A297D	ZFHX4_ENST00000518282.1_Missense_Mutation_p.A297D|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000455469.2_Missense_Mutation_p.A297D|ZFHX4_ENST00000050961.6_Missense_Mutation_p.A297D	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	297						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			GTAACCCATGCTGTGCATGAT	0.423000										HNSCC(33;0.089)			20	53					1.55795e-14	2.3872e-14	0.001882	1	0
LRRC16A	55604	broad.mit.edu	37	6	25581506	25581506	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr6:25581506G>T	ENST00000329474.6	+	31	3213	c.2845G>T	c.(2845-2847)Gta>Tta	p.V949L		NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	Q5VZK9	LR16A_HUMAN	leucine rich repeat containing 16A	949					actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process	cytosol|lamellipodium|nucleus				breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						GCTGGAAGAGGTACCAATTCA	0.443000													34	14					4.62619e-21	8.09024e-21	0.004289	1	0
TMEM68	137695	broad.mit.edu	37	8	56675442	56675442	+	Missense_Mutation	SNP	T	T	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr8:56675442T>C	ENST00000434581.2	-	3	276	c.77A>G	c.(76-78)gAa>gGa	p.E26G	TMEM68_ENST00000523073.1_Intron|TMEM68_ENST00000334667.2_Missense_Mutation_p.E26G|TMEM68_ENST00000519784.1_Intron|TMEM68_ENST00000522576.1_Missense_Mutation_p.E26G|TMEM68_ENST00000521229.1_Missense_Mutation_p.E26G			Q96MH6	TMM68_HUMAN	transmembrane protein 68	26						integral to membrane	acyltransferase activity			NS(1)|kidney(1)|lung(2)|ovary(1)|skin(1)	6			Epithelial(17;0.000361)|all cancers(17;0.00326)			AAACCATTCTTCGAGTATGTG	0.358000													88	216					0	0	0.003610	0	0
MAGI1	9223	broad.mit.edu	37	3	65347012	65347012	+	Splice_Site	SNP	T	T	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr3:65347012T>C	ENST00000330909.8	-	23	3579	c.3579_splice	c.e23-1	p.I1194_splice	MAGI1_ENST00000483466.1_Splice_Site_p.I1195_splice|MAGI1_ENST00000402939.2_Splice_Site_p.I1166_splice|MAGI1_ENST00000497477.2_Splice_Site_p.I1099_splice	NM_015520.1	NP_056335.1	Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	1195	PDZ 6.				cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		TCATCACCAATCTGCCAAAGC	0.393000													16	38					0	0	0.003163	0	0
ZNF607	84775	broad.mit.edu	37	19	38189824	38189824	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr19:38189824C>A	ENST00000355202.4	-	5	1803	c.1208G>T	c.(1207-1209)aGg>aTg	p.R403M	CTD-2528L19.4_ENST00000586606.2_Intron|ZNF607_ENST00000395835.3_Missense_Mutation_p.R402M	NM_032689.4	NP_116078.4	Q96SK3	ZN607_HUMAN	zinc finger protein 607	403					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|lung(8)|urinary_tract(1)	27			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)			TGAATTGAGCCTAAAGGACTT	0.423000													26	59					8.24728e-16	1.30657e-15	0.004656	1	0
ARHGAP30	257106	broad.mit.edu	37	1	161024251	161024251	+	Silent	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr1:161024251G>A	ENST00000368013.3	-	5	761	c.441C>T	c.(439-441)ttC>ttT	p.F147F	ARHGAP30_ENST00000368015.1_Intron|ARHGAP30_ENST00000368016.3_Silent_p.F147F	NM_001025598.1|NM_181720.2	NP_001020769.1|NP_859071.2	Q7Z6I6	RHG30_HUMAN	Rho GTPase activating protein 30	147	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			GCCTCATGAGGAACTCCAGGG	0.602000													3	17					0	0	0.004672	0	0
RANBP9	10048	broad.mit.edu	37	6	13697085	13697085	+	Silent	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr6:13697085C>T	ENST00000011619.3	-	2	673	c.615G>A	c.(613-615)acG>acA	p.T205T		NM_005493.2	NP_005484.2	Q96S59	RANB9_HUMAN	RAN binding protein 9	205	B30.2/SPRY.				axon guidance|microtubule nucleation|protein complex assembly	cytosol|microtubule associated complex|nucleus	Ran GTPase binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	16	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.117)	Epithelial(50;0.223)			GTATTGGATGCGTGGCTCGAA	0.403000													18	411					0	0	0.010504	0	0
FABP1	2168	broad.mit.edu	37	2	88425740	88425740	+	Silent	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr2:88425740C>T	ENST00000393750.3	-	2	226	c.195G>A	c.(193-195)gtG>gtA	p.V65V	FABP1_ENST00000295834.3_Silent_p.V65V|FABP1_ENST00000495375.1_5'UTR			P07148	FABPL_HUMAN	fatty acid binding protein 1, liver	65					organ morphogenesis					kidney(1)|large_intestine(1)|lung(2)|prostate(1)|stomach(1)	6						ATTCCTCCCCCACCGTGAATT	0.532000													80	205					0	0	0.003610	0	0
HCN1	348980	broad.mit.edu	37	5	45262657	45262657	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr5:45262657G>C	ENST00000303230.4	-	8	2096	c.2039C>G	c.(2038-2040)tCc>tGc	p.S680C		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	680						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						GGGACTGGGGGAGTGCAGGTT	0.622000													38	25					0	0	0.004878	0	0
ZNF536	9745	broad.mit.edu	37	19	30936096	30936096	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr19:30936096C>G	ENST00000355537.3	+	2	1774	c.1627C>G	c.(1627-1629)Ccg>Gcg	p.P543A		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	543					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					TAAAGAGCATCCGCTGCAGCG	0.572000													26	49					0	0	0.003330	0	0
COL4A5	1287	broad.mit.edu	37	X	107821200	107821200	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chrX:107821200G>T	ENST00000328300.6	+	11	872	c.628G>T	c.(628-630)Gga>Tga	p.G210*	COL4A5_ENST00000361603.2_Nonsense_Mutation_p.G210*	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	210	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						TGGTCCACCAGGACTTCCAGG	0.308000									Alport syndrome with Diffuse Leiomyomatosis				6	19					5.9392e-07	7.12507e-07	0.001168	1	0
LRRIQ1	84125	broad.mit.edu	37	12	85521787	85521787	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr12:85521787G>T	ENST00000393217.2	+	18	4246	c.4185G>T	c.(4183-4185)agG>agT	p.R1395S		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	1395	IQ 3.									breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		GAAAACAGAGGGAGAAGGCTG	0.308000													18	57					8.10497e-08	1.0126e-07	0.010504	1	0
MAGEB4	4115	broad.mit.edu	37	X	30260473	30260473	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chrX:30260473C>T	ENST00000378982.2	+	1	417	c.221C>T	c.(220-222)gCt>gTt	p.A74V		NM_002367.3	NP_002358.1	O15481	MAGB4_HUMAN	melanoma antigen family B, 4	74										breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27						GCTGCTGCAGCTATGTCATGC	0.522000													7	28					0	0	0.003080	0	0
MAGEC1	9947	broad.mit.edu	37	X	140995862	140995862	+	Nonsense_Mutation	SNP	T	T	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chrX:140995862T>A	ENST00000285879.4	+	4	2958	c.2672T>A	c.(2671-2673)tTg>tAg	p.L891*	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	891							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					AGTGATTCCTTGACAGACAGC	0.473000										HNSCC(15;0.026)			52	131					0	0	0.003610	0	0
OR4M2	390538	broad.mit.edu	37	15	22368785	22368785	+	Silent	SNP	T	T	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr15:22368785T>C	ENST00000332663.2	+	1	308	c.210T>C	c.(208-210)gaT>gaC	p.D70D	RP11-69H14.6_ENST00000558896.1_RNA	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M, member 2	70					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		CCTTCCTTGATATTTGGTACT	0.418000													35	164					0	0	0.004878	0	0
ADAMTSL3	57188	broad.mit.edu	37	15	84659891	84659891	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr15:84659891C>A	ENST00000286744.5	+	23	4122	c.3898C>A	c.(3898-3900)Cat>Aat	p.H1300N	ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.H1300N	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	1300	Ig-like C2-type 3.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			AGAGCACAACCATCTGTCTGT	0.468000													52	115					2.0833e-19	3.54479e-19	0.003610	1	0
DRD5	1816	broad.mit.edu	37	4	9783943	9783943	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr4:9783943G>T	ENST00000304374.2	+	1	686	c.290G>T	c.(289-291)tGg>tTg	p.W97L		NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN	dopamine receptor D5	97					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane				NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)	GTCATGCCCTGGAAGGCAGTC	0.627000													14	36					6.31663e-08	7.92589e-08	0.003163	1	0
RNF183	138065	broad.mit.edu	37	9	116060189	116060189	+	Silent	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr9:116060189G>A	ENST00000478815.1	-	1	1856	c.276C>T	c.(274-276)atC>atT	p.I92I	RNF183_ENST00000441031.3_Silent_p.I92I|RNF183_ENST00000297894.5_Silent_p.I92I|RNF183_ENST00000416588.2_Silent_p.I92I			Q96D59	RN183_HUMAN	ring finger protein 183	92						integral to membrane	zinc ion binding			lung(1)|prostate(1)|skin(1)	3						GGCCTTCCAGGATGACATGGT	0.662000													26	13					0	0	0.005443	0	0
CACNB2	783	broad.mit.edu	37	10	18825057	18825057	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr10:18825057G>A	ENST00000396576.2	+	11	1570	c.1069G>A	c.(1069-1071)Ggg>Agg	p.G357R	CACNB2_ENST00000377329.4_Missense_Mutation_p.G358R|CACNB2_ENST00000352115.6_Missense_Mutation_p.G388R|RP11-499P20.2_ENST00000425669.1_RNA|CACNB2_ENST00000377315.4_Missense_Mutation_p.G364R|CACNB2_ENST00000324631.7_Missense_Mutation_p.G412R|CACNB2_ENST00000282343.8_Missense_Mutation_p.G384R|CACNB2_ENST00000377319.3_Missense_Mutation_p.G319R|CACNB2_ENST00000377331.2_Missense_Mutation_p.G360R|CACNB2_ENST00000377328.1_Missense_Mutation_p.G162R	NM_000724.3	NP_000715.2	Q08289	CACB2_HUMAN	calcium channel, voltage-dependent, beta 2 subunit	412					axon guidance|neuromuscular junction development	integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2)	31					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	AAAATCTCGAGGGAAATCTCA	0.368000													8	15					0	0	0.004482	0	0
DIAPH2	1730	broad.mit.edu	37	X	95993694	95993694	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chrX:95993694C>T	ENST00000324765.8	+	3	622	c.275C>T	c.(274-276)cCa>cTa	p.P92L	DIAPH2_ENST00000373054.4_Missense_Mutation_p.P81L|DIAPH2_ENST00000355827.4_Missense_Mutation_p.P92L|DIAPH2_ENST00000373049.4_Missense_Mutation_p.P92L|DIAPH2_ENST00000373061.3_Missense_Mutation_p.P92L			O60879	DIAP2_HUMAN	diaphanous-related formin 2	92					cell differentiation|cytokinesis|multicellular organismal development|oogenesis	cytosol|early endosome|Golgi apparatus|mitochondrion|nucleolus	receptor binding|Rho GTPase binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51						GCAGCTCAGCCATTATATGAT	0.318000													14	46					0	0	0.001855	0	0
ANK2	287	broad.mit.edu	37	4	114286205	114286205	+	Silent	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr4:114286205C>A	ENST00000357077.4	+	41	10952	c.10899C>A	c.(10897-10899)ctC>ctA	p.L3633L	ANK2_ENST00000509550.1_Silent_p.L724L|ANK2_ENST00000394537.3_Silent_p.L1548L|ANK2_ENST00000510275.2_Silent_p.L200L|ANK2_ENST00000506722.1_Silent_p.L1539L|ANK2_ENST00000264366.6_Silent_p.L3600L	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	3600					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		ATACCAACCTCGTTGAATGTC	0.388000													22	53					1.77063e-15	2.76578e-15	0.005443	1	0
PCMTD1	115294	broad.mit.edu	37	8	52733210	52733210	+	Missense_Mutation	SNP	T	T	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr8:52733210T>G	ENST00000360540.5	-	7	1181	c.775A>C	c.(775-777)Ata>Cta	p.I259L	PCMTD1_ENST00000519559.1_5'UTR|PCMTD1_ENST00000544451.1_Missense_Mutation_p.I183L|PCMTD1_ENST00000522514.1_Missense_Mutation_p.I259L	NM_052937.2	NP_443169.2	Q96MG8	PCMD1_HUMAN	protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1	259						cytoplasm	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity			NS(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(17)|prostate(2)|skin(8)|soft_tissue(1)	37		Lung NSC(129;0.0795)|all_lung(136;0.144)				TCATCATTTATGAAATTTCTA	0.403000													10	114					0	0	0.001368	0	0
TARS	6897	broad.mit.edu	37	5	33456123	33456123	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr5:33456123G>T	ENST00000265112.3	+	7	1021	c.710G>T	c.(709-711)tGc>tTc	p.C237F	TARS_ENST00000414361.2_Missense_Mutation_p.C116F|TARS_ENST00000455217.2_Missense_Mutation_p.C270F|TARS_ENST00000541634.1_Missense_Mutation_p.C133F|TARS_ENST00000502553.1_Missense_Mutation_p.C237F	NM_152295.4	NP_689508.3	P26639	SYTC_HUMAN	threonyl-tRNA synthetase	237					threonyl-tRNA aminoacylation	cytosol	ATP binding|protein homodimerization activity|threonine-tRNA ligase activity			NS(1)|biliary_tract(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)	29					L-Threonine(DB00156)	AAGTTCAAATGCCGGATATTG	0.294000													10	40					3.86212e-05	4.34189e-05	0.008291	1	0
GPC4	2239	broad.mit.edu	37	X	132548940	132548940	+	Silent	SNP	G	G	T	rs150450966	byFrequency	TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chrX:132548940G>T	ENST00000370828.3	-	1	578	c.54C>A	c.(52-54)gcC>gcA	p.A18A		NM_001448.2	NP_001439.2	O75487	GPC4_HUMAN	glypican 4	18					anatomical structure morphogenesis|cell proliferation	anchored to membrane|external side of plasma membrane|extracellular space|insoluble fraction|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;0.000127)					CCAGCAGCGCGGCGCTGAGCA	0.647000													11	22					3.07112e-06	3.57762e-06	0.000978	1	0
RPS6KC1	26750	broad.mit.edu	37	1	213415634	213415634	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr1:213415634G>C	ENST00000366960.3	+	11	2965	c.2815G>C	c.(2815-2817)Gat>Cat	p.D939H	RPS6KC1_ENST00000490299.1_3'UTR|RPS6KC1_ENST00000543354.1_Missense_Mutation_p.D642H|RPS6KC1_ENST00000366959.3_Missense_Mutation_p.D927H|RPS6KC1_ENST00000543470.1_Missense_Mutation_p.D727H	NM_012424.3	NP_036556.2	Q96S38	KS6C1_HUMAN	ribosomal protein S6 kinase, 52kDa, polypeptide 1	939	Protein kinase 2.				cell communication|signal transduction	early endosome|membrane	ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity			breast(1)|endometrium(6)|kidney(4)|large_intestine(8)|liver(2)|lung(15)|ovary(3)|prostate(1)|urinary_tract(3)	43				OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)		CTTATTGAATGATAGAGGTCA	0.388000													31	82					0	0	0.003755	0	0
LRRCC1	85444	broad.mit.edu	37	8	86048158	86048158	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr8:86048158G>T	ENST00000414626.2	+	13	3118	c.2229G>T	c.(2227-2229)agG>agT	p.R743S	LRRCC1_ENST00000360375.3_Missense_Mutation_p.R763S			Q9C099	LRCC1_HUMAN	leucine rich repeat and coiled-coil centrosomal protein 1	763					cell division|mitosis	centriole|nucleus				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						TTGGTTTAAGGACAGAAAGAA	0.368000													13	40					1.35283e-19	2.3073e-19	0.004007	1	0
ADAMTS20	80070	broad.mit.edu	37	12	43945646	43945646	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr12:43945646G>C	ENST00000389420.3	-	1	78	c.79C>G	c.(79-81)Cac>Gac	p.H27D	ADAMTS20_ENST00000553158.1_Missense_Mutation_p.H27D	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	27						proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		TGCCTGGGGTGGAAGTCAACT	0.647000													33	38					0	0	0.002836	0	0
TMEM187	8269	broad.mit.edu	37	X	153247610	153247610	+	Missense_Mutation	SNP	G	G	A	rs139864308	byFrequency	TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chrX:153247610G>A	ENST00000369982.4	+	2	844	c.97G>A	c.(97-99)Gtg>Atg	p.V33M		NM_003492.2	NP_003483.1	Q14656	TM187_HUMAN	transmembrane protein 187	33						integral to membrane|transport vesicle				breast(1)|large_intestine(1)|lung(1)|prostate(2)	5	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CAGTGTTTCCGTGCAAGTGGG	0.637000													20	58					0	0	0.002780	0	0
UNC79	57578	broad.mit.edu	37	14	94044226	94044226	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr14:94044226C>A	ENST00000553484.1	+	18	2404	c.2250C>A	c.(2248-2250)caC>caA	p.H750Q	UNC79_ENST00000256339.4_Missense_Mutation_p.H573Q|UNC79_ENST00000393151.2_Missense_Mutation_p.H750Q|UNC79_ENST00000555664.1_Missense_Mutation_p.H750Q			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	750						integral to membrane				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						GAGTTCAGCACAATATGCTTA	0.453000													24	103					1.55469e-16	2.49302e-16	0.003330	1	0
ACBD4	79777	broad.mit.edu	37	17	43213951	43213951	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr17:43213951G>T	ENST00000431281.1	+	5	642	c.173G>T	c.(172-174)cGg>cTg	p.R58L	ACBD4_ENST00000591136.1_3'UTR|ACBD4_ENST00000586346.1_Missense_Mutation_p.R58L|ACBD4_ENST00000376955.4_Missense_Mutation_p.R58L|ACBD4_ENST00000321854.8_Missense_Mutation_p.R58L|ACBD4_ENST00000592162.1_Missense_Mutation_p.R58L|ACBD4_ENST00000591859.1_Missense_Mutation_p.R58L|ACBD4_ENST00000398322.3_Missense_Mutation_p.R58L	NM_001135704.1	NP_001129176.1	Q8NC06	ACBD4_HUMAN	acyl-CoA binding domain containing 4	58	ACB.						fatty-acyl-CoA binding			kidney(1)|lung(3)|ovary(1)	5						CTGGTCCCCCGGCCCGGGTTC	0.607000													23	87					3.85864e-22	6.83882e-22	0.002780	1	0
ZBTB21	49854	broad.mit.edu	37	21	43412359	43412359	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr21:43412359C>T	ENST00000310826.5	-	3	2029	c.1846G>A	c.(1846-1848)Gaa>Aaa	p.E616K	ZBTB21_ENST00000465968.1_Intron|ZBTB21_ENST00000398499.1_Missense_Mutation_p.E616K|ZBTB21_ENST00000398505.3_Intron|ZBTB21_ENST00000398511.3_Missense_Mutation_p.E616K	NM_001098402.1	NP_001091872.1			zinc finger and BTB domain containing 21																		TGGAATTTTTCATCCAAAACA	0.453000													20	56					0	0	0.010504	0	0
ALKBH3	221120	broad.mit.edu	37	11	43908168	43908168	+	Silent	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr11:43908168G>T	ENST00000302708.4	+	5	642	c.231G>T	c.(229-231)gtG>gtT	p.V77V	ALKBH3_ENST00000532410.1_3'UTR|ALKBH3_ENST00000378840.4_Silent_p.V76V	NM_139178.3	NP_631917.1	Q96Q83	ALKB3_HUMAN	alkB, alkylation repair homolog 3 (E. coli)	77					DNA dealkylation involved in DNA repair|oxidative single-stranded DNA demethylation	mitochondrion|nucleoplasm	damaged DNA binding|DNA-N1-methyladenine dioxygenase activity|ferrous iron binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			endometrium(2)|kidney(1)|lung(4)|prostate(1)	8					Vitamin C(DB00126)	GAGAGGGTGTGTATGAAATCA	0.388000								Direct reversal of damage					6	36					1.12685e-05	1.29293e-05	0.004482	1	0
BCAP31	10134	broad.mit.edu	37	X	152981071	152981071	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chrX:152981071C>T	ENST00000458587.2	-	4	897	c.468G>A	c.(466-468)atG>atA	p.M156I	BCAP31_ENST00000345046.6_Missense_Mutation_p.M89I|BCAP31_ENST00000477175.1_5'UTR|BCAP31_ENST00000441714.1_Missense_Mutation_p.M89I	NM_001139441.1|NM_001139457.2	NP_001132913.1|NP_001132929.1	P51572	BAP31_HUMAN	B-cell receptor-associated protein 31	89					cellular component disassembly involved in apoptosis|immune response|intracellular protein transport|vesicle-mediated transport	cytosol|endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|integral to plasma membrane	receptor binding			endometrium(2)|large_intestine(2)|lung(2)|prostate(1)	7	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GGAAGTGCTCCATGGCCCCGG	0.552000													26	56					0	0	0.003330	0	0
ITGA10	8515	broad.mit.edu	37	1	145532463	145532463	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr1:145532463G>T	ENST00000369304.3	+	9	1091	c.916G>T	c.(916-918)Ggt>Tgt	p.G306C	ITGA10_ENST00000539363.1_Missense_Mutation_p.G163C|ITGA10_ENST00000481236.1_3'UTR|ITGA10_ENST00000538811.1_Missense_Mutation_p.G175C	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN	integrin, alpha 10	306	VWFA.				cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity			NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TTAGGTCCTTGGTCACTACCT	0.458000													16	49					3.32936e-07	4.041e-07	0.006122	1	0
KRTAP21-2	337978	broad.mit.edu	37	21	32119357	32119357	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr21:32119357G>T	ENST00000333892.2	-	1	194	c.164C>A	c.(163-165)tCt>tAt	p.S55Y		NM_181617.1	NP_853648.1	Q3LI59	KR212_HUMAN	keratin associated protein 21-2	55						intermediate filament				lung(4)|skin(2)|upper_aerodigestive_tract(1)	7						tccacagccagagccgtatcc	0.517000													15	37					2.35188e-11	3.29036e-11	0.006122	1	0
CSPP1	79848	broad.mit.edu	37	8	68049768	68049768	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr8:68049768G>T	ENST00000262210.5	+	15	1921	c.1890G>T	c.(1888-1890)atG>atT	p.M630I	CSPP1_ENST00000412460.1_Missense_Mutation_p.M336I	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	centrosome and spindle pole associated protein 1	665						centrosome|microtubule|spindle				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)			AAGCTGAAATGAGAACATATA	0.353000													11	11					0.000151284	0.000166966	0.001855	1	0
CTSF	8722	broad.mit.edu	37	11	66335023	66335023	+	Silent	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr11:66335023G>A	ENST00000310325.5	-	3	532	c.423C>T	c.(421-423)ttC>ttT	p.F141F	CTSF_ENST00000533168.1_5'UTR	NM_003793.3	NP_003784.2	Q9UBX1	CATF_HUMAN	cathepsin F	141					proteolysis	lysosome	cysteine-type endopeptidase activity			endometrium(1)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	19						AGCCCTGAGTGAAGGCTGACT	0.547000													27	81					0	0	0.006320	0	0
FAM173B	134145	broad.mit.edu	37	5	10227603	10227603	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr5:10227603C>A	ENST00000280330.8	-	6	766	c.160G>T	c.(160-162)Gaa>Taa	p.E54*	FAM173B_ENST00000511437.1_Nonsense_Mutation_p.E218*|FAM173B_ENST00000510047.1_Nonsense_Mutation_p.E201*			Q6P4H8	F173B_HUMAN	family with sequence similarity 173, member B	218						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	16						GGCCTCTTTTCACGGCCTCTA	0.493000													29	43					4.31634e-10	5.80321e-10	0.002445	1	0
ZNF81	347344	broad.mit.edu	37	X	47755298	47755298	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chrX:47755298C>A	ENST00000376954.1	+	5	604	c.236C>A	c.(235-237)cCa>cAa	p.P79Q	ZNF81_ENST00000338637.7_Missense_Mutation_p.P79Q			P51508	ZNF81_HUMAN	zinc finger protein 81	79	KRAB.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|large_intestine(1)|lung(1)|skin(1)	4		all_lung(315;0.0973)				GGAGAGGGGCCATGGACATTG	0.493000													7	16					1.67772e-17	2.74812e-17	0.000978	1	0
PCDH11X	27328	broad.mit.edu	37	X	91090671	91090671	+	Silent	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chrX:91090671C>A	ENST00000373094.1	+	1	1013	c.168C>A	c.(166-168)tcC>tcA	p.S56S	PCDH11X_ENST00000298274.8_Silent_p.S56S|PCDH11X_ENST00000504220.1_Silent_p.S56S|PCDH11X_ENST00000406881.1_Silent_p.S56S|PCDH11X_ENST00000373097.1_Silent_p.S56S|PCDH11X_ENST00000361724.1_Silent_p.S56S|PCDH11X_ENST00000395337.2_Silent_p.S56S|PCDH11X_ENST00000373088.1_Silent_p.S56S|PCDH11X_ENST00000361655.2_Silent_p.S56S	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	56	Cadherin 1.				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						CAAACAAGTCCTTGACAACTG	0.463000													26	47					3.28513e-13	4.82441e-13	0.003954	1	0
SLC44A5	204962	broad.mit.edu	37	1	75740677	75740677	+	Missense_Mutation	SNP	C	C	A	rs143283722		TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr1:75740677C>A	ENST00000370855.5	-	6	339	c.226G>T	c.(226-228)Ggc>Tgc	p.G76C	SLC44A5_ENST00000370859.3_Missense_Mutation_p.G76C|SLC44A5_ENST00000469525.1_5'UTR|SLC44A5_ENST00000535611.1_Intron	NM_152697.4	NP_689910.2	Q8NCS7	CTL5_HUMAN	solute carrier family 44, member 5	76						integral to membrane|plasma membrane	choline transmembrane transporter activity			kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						CAAAAGTGGCCCTGGCTGTCT	0.478000													10	6					4.68919e-08	5.9043e-08	0.008291	1	0
GLUD2	2747	broad.mit.edu	37	X	120183091	120183091	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chrX:120183091C>A	ENST00000328078.1	+	1	1630	c.1553C>A	c.(1552-1554)gCc>gAc	p.A518D		NM_012084.3	NP_036216.2	P49448	DHE4_HUMAN	glutamate dehydrogenase 2	518					glutamate biosynthetic process|glutamate catabolic process	mitochondrial matrix	ADP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|leucine binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|urinary_tract(1)	38					L-Glutamic Acid(DB00142)|NADH(DB00157)	GAGCGTTCTGCCAGGCAAATT	0.463000													24	49					7.4402e-23	1.32841e-22	0.003954	1	0
PRICKLE3	4007	broad.mit.edu	37	X	49033386	49033386	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chrX:49033386G>T	ENST00000376317.3	-	8	1215	c.1121C>A	c.(1120-1122)gCt>gAt	p.A374D	PRICKLE3_ENST00000536904.1_Missense_Mutation_p.A293D|PRICKLE3_ENST00000538114.1_Intron|PRICKLE3_ENST00000540849.1_Missense_Mutation_p.A306D	NM_006150.3	NP_006141.2	O43900	PRIC3_HUMAN	prickle homolog 3 (Drosophila)	374				Missing (in Ref. 5; AAB92357).			protein binding|zinc ion binding			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|skin(2)	22						CGGCCCTGGAGCTGTGGGCTC	0.677000													9	23					0.000274275	0.00029951	0.004482	1	0
ADAMTSL3	57188	broad.mit.edu	37	15	84582127	84582127	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr15:84582127G>T	ENST00000286744.5	+	16	2208	c.1984G>T	c.(1984-1986)Gga>Tga	p.G662*	ADAMTSL3_ENST00000567476.1_Nonsense_Mutation_p.G662*	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	662						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			AACATGCGTGGGAGGTATTTG	0.488000													13	13					4.3838e-07	5.30304e-07	0.001855	1	0
CSNK2A3	283106	broad.mit.edu	37	11	11373918	11373918	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr11:11373918C>A	ENST00000528848.2	-	1	986	c.749G>T	c.(748-750)gGg>gTg	p.G250V	GALNT18_ENST00000227756.4_Intron	NM_001256686.1	NP_001243615.1			casein kinase 2, alpha 3 polypeptide																		ATCTTCTGTCCCCAGAAACTT	0.418000													11	94					4.35082e-09	5.6859e-09	0.010504	1	0
STAG2	10735	broad.mit.edu	37	X	123191804	123191804	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chrX:123191804G>T	ENST00000371160.1	+	15	1683	c.1393G>T	c.(1393-1395)Gtt>Ttt	p.V465F	STAG2_ENST00000218089.9_Missense_Mutation_p.V465F|STAG2_ENST00000371157.3_Missense_Mutation_p.V465F|STAG2_ENST00000371144.3_Missense_Mutation_p.V465F|STAG2_ENST00000354548.5_Missense_Mutation_p.V396F|STAG2_ENST00000371145.3_Missense_Mutation_p.V465F|STAG2_ENST00000469481.1_Intron			Q8N3U4	STAG2_HUMAN	stromal antigen 2	465					cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding	p.V465F(1)		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						TAAGACATTGGTTTTTTTCTT	0.348000													11	45					1.08611e-07	1.34879e-07	0.000978	1	0
GRM1	2911	broad.mit.edu	37	6	146480550	146480550	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr6:146480550C>A	ENST00000392299.2	+	3	1237	c.767C>A	c.(766-768)gCc>gAc	p.A256D	GRM1_ENST00000282753.1_Missense_Mutation_p.A256D|GRM1_ENST00000507907.1_Missense_Mutation_p.A256D|GRM1_ENST00000355289.4_Missense_Mutation_p.A256D|GRM1_ENST00000361719.2_Missense_Mutation_p.A256D|GRM1_ENST00000492807.2_Missense_Mutation_p.A256D			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	256					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	CTCTGTATCGCCCATTCTGAC	0.527000													17	24					2.94398e-08	3.73283e-08	0.007413	1	0
GRIK5	2901	broad.mit.edu	37	19	42510043	42510043	+	Missense_Mutation	SNP	T	T	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr19:42510043T>G	ENST00000262895.3	-	16	2094	c.2095A>C	c.(2095-2097)Agc>Cgc	p.S699R	GRIK5_ENST00000593562.1_Missense_Mutation_p.S699R|GRIK5_ENST00000301218.4_Missense_Mutation_p.S699R	NM_002088.4	NP_002079.3	Q16478	GRIK5_HUMAN	glutamate receptor, ionotropic, kainate 5	699						cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	35		Prostate(69;0.059)			L-Glutamic Acid(DB00142)	ACGAACACGCTGGGCTGCTTC	0.577000													6	10					0	0	0.001984	0	0
IGHV3OR16-8	388255	broad.mit.edu	37	16	33020907	33020907	+	RNA	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr16:33020907G>A	ENST00000565407.2	+	0	315				RP11-19N8.2_ENST00000567619.1_RNA																							TGAACAGCCTGAGAGCTGAGG	0.532000													59	214					0	0	0.003610	0	0
PRDM11	56981	broad.mit.edu	37	11	45204635	45204635	+	Silent	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr11:45204635C>T	ENST00000263765.4	+	5	798	c.549C>T	c.(547-549)atC>atT	p.I183I	PRDM11_ENST00000530656.1_Silent_p.I183I|PRDM11_ENST00000528980.1_3'UTR|PRDM11_ENST00000424263.2_Silent_p.I149I			Q9NQV5	PRD11_HUMAN	PR domain containing 11	183	SET.									endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	26						AGGGGCAGATCTCCACCCAGG	0.557000											OREG0020926	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	22					0	0	0.001855	0	0
MAGI3	260425	broad.mit.edu	37	1	114226374	114226374	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr1:114226374C>G	ENST00000307546.9	+	21	4259	c.4184C>G	c.(4183-4185)tCt>tGt	p.S1395C	MAGI3_ENST00000369615.1_3'UTR	NM_001142782.1	NP_001136254.1	Q5TCQ9	MAGI3_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 3	1420					apoptosis|interspecies interaction between organisms|intracellular signal transduction	nucleus|tight junction	ATP binding|guanylate kinase activity|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GAAACAAGTTCTAGTAACGAT	0.343000													5	5					0	0	0.000602	0	0
PCDH15	65217	broad.mit.edu	37	10	55587240	55587240	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr10:55587240G>T	ENST00000373965.2	-	33	4695	c.4301C>A	c.(4300-4302)cCg>cAg	p.P1434Q	PCDH15_ENST00000395430.1_Missense_Mutation_p.P1424Q|PCDH15_ENST00000414778.1_Missense_Mutation_p.P1429Q|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395432.2_Missense_Mutation_p.P1387Q|PCDH15_ENST00000395438.1_Missense_Mutation_p.P1427Q|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395445.1_Missense_Mutation_p.P1434Q|PCDH15_ENST00000361849.3_Missense_Mutation_p.P1427Q|PCDH15_ENST00000409834.1_Missense_Mutation_p.P1038Q|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000320301.6_Missense_Mutation_p.P1427Q|PCDH15_ENST00000395433.1_Missense_Mutation_p.P1402Q|PCDH15_ENST00000437009.1_Missense_Mutation_p.P1356Q	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1427					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TGCAGGAGCCGGCACTGCTGG	0.572000										HNSCC(58;0.16)			16	40					4.14922e-12	5.91345e-12	0.004007	1	0
TNNT1	7138	broad.mit.edu	37	19	55653268	55653268	+	Nonsense_Mutation	SNP	A	A	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr19:55653268A>T	ENST00000588981.1	-	7	353	c.149T>A	c.(148-150)tTg>tAg	p.L50*	TNNT1_ENST00000585321.2_5'UTR|TNNT1_ENST00000291901.8_Nonsense_Mutation_p.L50*|TNNT1_ENST00000587465.2_5'UTR|TNNT1_ENST00000592920.1_5'UTR|TNNT1_ENST00000588426.1_Intron|TNNT1_ENST00000536926.1_Nonsense_Mutation_p.L39*|TNNT1_ENST00000587758.1_Nonsense_Mutation_p.L39*|TNNT1_ENST00000356783.5_Nonsense_Mutation_p.L39*	NM_003283.4	NP_003274.3	P13805	TNNT1_HUMAN	troponin T type 1 (skeletal, slow)	50					muscle filament sliding|negative regulation of muscle contraction	cytosol|troponin complex	tropomyosin binding			endometrium(2)|kidney(3)|lung(4)|ovary(1)	10			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.047)		TGGCGGGATCAAAGGAGGCAC	0.602000													42	61					0	0	0.003214	0	0
KIAA0556	23247	broad.mit.edu	37	16	27751537	27751537	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr16:27751537G>T	ENST00000261588.4	+	15	1938	c.1919G>T	c.(1918-1920)aGc>aTc	p.S640I		NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	640										breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						TCGGAAGAAAGCAAAGGCACC	0.562000													35	34					9.78485e-24	1.77106e-23	0.002836	1	0
SERPINA12	145264	broad.mit.edu	37	14	94953696	94953696	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr14:94953696C>G	ENST00000341228.2	-	6	1984	c.1189G>C	c.(1189-1191)Gag>Cag	p.E397Q	SERPINA12_ENST00000556881.1_Missense_Mutation_p.E397Q	NM_173850.2	NP_776249.1	Q8IW75	SPA12_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12	397					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33				COAD - Colon adenocarcinoma(157;0.235)		GGTATTTTCTCGCTGTAAATC	0.522000													9	60					0	0	0.000978	0	0
LCT	3938	broad.mit.edu	37	2	136575089	136575089	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr2:136575089C>A	ENST00000264162.2	-	6	1539	c.1529G>T	c.(1528-1530)tGg>tTg	p.W510L		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	510	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		CTCATTCTGCCATCCACCATG	0.587000													14	36					3.27435e-08	4.13002e-08	0.002450	1	0
TTN	7273	broad.mit.edu	37	2	179463902	179463902	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr2:179463902C>A	ENST00000589042.1	-	290	56842	c.56618G>T	c.(56617-56619)aGt>aTt	p.S18873I	TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.S9808I|TTN_ENST00000342175.6_Missense_Mutation_p.S10000I|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S16305I|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.S9933I|TTN_ENST00000591111.1_Missense_Mutation_p.S17232I|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	17232	Ig-like 107.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTCAGGTTCACTGTCAAGAGG	0.358000													111	215					7.90946e-78	1.55822e-77	0.003610	1	0
CCDC86	79080	broad.mit.edu	37	11	60609861	60609861	+	Silent	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr11:60609861C>T	ENST00000227520.5	+	1	318	c.264C>T	c.(262-264)ggC>ggT	p.G88G	RP11-804A23.4_ENST00000538705.1_RNA|RP11-804A23.2_ENST00000539897.1_RNA	NM_024098.3	NP_077003.1	Q9H6F5	CCD86_HUMAN	coiled-coil domain containing 86	88	Pro-rich.				interspecies interaction between organisms	nucleus				endometrium(1)|large_intestine(2)|liver(2)|lung(2)|urinary_tract(3)	10						CAGAGCCAGGCGCAGCGTCCC	0.647000													12	51					0	0	0.001855	0	0
TRPA1	8989	broad.mit.edu	37	8	72936059	72936059	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr8:72936059G>T	ENST00000262209.4	-	26	3346	c.3139C>A	c.(3139-3141)Cag>Aag	p.Q1047K	RP11-383H13.1_ENST00000537896.1_Intron|RP11-383H13.1_ENST00000457356.4_Intron|RP11-383H13.1_ENST00000524152.1_Intron	NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	1047						integral to plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	CGGTATTTCTGCTTTAATATT	0.259000													17	53					1.02788e-11	1.45207e-11	0.004990	1	0
RIMBP2	23504	broad.mit.edu	37	12	130935883	130935883	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr12:130935883G>T	ENST00000261655.4	-	5	473	c.310C>A	c.(310-312)Cag>Aag	p.Q104K	RIMBP2_ENST00000535703.1_Missense_Mutation_p.Q12K|RIMBP2_ENST00000536002.1_Missense_Mutation_p.Q12K	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	104						cell junction|synapse				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		GCGCTCTCCTGACCTGGCCAC	0.557000													15	33					7.93312e-07	9.47004e-07	0.002450	1	0
CRX	1406	broad.mit.edu	37	19	48343050	48343050	+	Silent	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr19:48343050G>T	ENST00000221996.7	+	4	932	c.726G>T	c.(724-726)gtG>gtT	p.V242V	TPRX2P_ENST00000535362.1_Intron|CRX_ENST00000539067.1_Silent_p.V242V	NM_000554.4	NP_000545.1	O43186	CRX_HUMAN	cone-rod homeobox	242			V -> M (in CORD2).		organ morphogenesis|response to stimulus|visual perception		leucine zipper domain binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|urinary_tract(1)	23		all_cancers(25;2.76e-09)|all_epithelial(76;7.01e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)		OV - Ovarian serous cystadenocarcinoma(262;0.000266)|all cancers(93;0.000788)|Epithelial(262;0.0226)|GBM - Glioblastoma multiforme(486;0.0521)		GCCCCTCCGTGGGACCTTCCC	0.652000													53	102					2.17126e-26	4.02558e-26	0.003610	1	0
ST8SIA3	51046	broad.mit.edu	37	18	55024672	55024672	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr18:55024672G>T	ENST00000324000.3	+	3	2865	c.831G>T	c.(829-831)tgG>tgT	p.W277C		NM_015879.2	NP_056963.2	O43173	SIA8C_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 3	277					glycosphingolipid biosynthetic process|N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(16)|prostate(1)|skin(3)	36				READ - Rectum adenocarcinoma(59;0.19)|Colorectal(16;0.205)		AACTGGCTTGGCCGGGAAATA	0.403000													31	76					2.47316e-13	3.66498e-13	0.003271	1	0
TTYH2	94015	broad.mit.edu	37	17	72227059	72227059	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr17:72227059G>T	ENST00000269346.4	+	3	409	c.335G>T	c.(334-336)aGc>aTc	p.S112I	TTYH2_ENST00000529107.1_Missense_Mutation_p.S91I	NM_032646.5	NP_116035.5	Q9BSA4	TTYH2_HUMAN	tweety family member 2	112						chloride channel complex|plasma membrane	chloride channel activity|protein binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(14)|ovary(3)|pancreas(1)|stomach(3)|upper_aerodigestive_tract(1)	36						TATGGAAACAGCGAGACCAAC	0.507000													26	52					8.24728e-16	1.30657e-15	0.004656	1	0
TPCN2	219931	broad.mit.edu	37	11	68846201	68846201	+	Splice_Site	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr11:68846201G>A	ENST00000294309.3	+	15	1451		c.e15-1		TPCN2_ENST00000542467.1_Splice_Site|TPCN2_ENST00000442692.2_Splice_Site	NM_139075.3	NP_620714.2	Q8NHX9	TPC2_HUMAN	two pore segment channel 2						cellular calcium ion homeostasis|smooth muscle contraction	endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated calcium channel activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	32			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			TGGCGTTGCAGGTGTTCCTGG	0.657000													5	57					0	0	0.001984	0	0
GRIA3	2892	broad.mit.edu	37	X	122616872	122616872	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chrX:122616872G>T	ENST00000264357.5	+	15	2954	c.2662G>T	c.(2662-2664)Gga>Tga	p.G888*	GRIA3_ENST00000371251.1_Nonsense_Mutation_p.G888*|GRIA3_ENST00000542149.1_3'UTR|GRIA3_ENST00000371256.5_Nonsense_Mutation_p.G888*	NM_000828.4	NP_000819.3	P42263	GRIA3_HUMAN	glutamate receptor, ionotropic, AMPA 3	888					glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					L-Glutamic Acid(DB00142)	CAACGTGTATGGAACAGAGAG	0.378000													26	66					1.39806e-14	2.15131e-14	0.008361	1	0
HARBI1	283254	broad.mit.edu	37	11	46637683	46637683	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr11:46637683C>G	ENST00000326737.3	-	2	352	c.105G>C	c.(103-105)ttG>ttC	p.L35F		NM_173811.3	NP_776172.1	Q96MB7	HARB1_HUMAN	harbinger transposase derived 1	35						cytoplasm|nucleus	metal ion binding|nuclease activity			large_intestine(1)|prostate(1)|upper_aerodigestive_tract(1)	3						ACATGGACATCAAGTATTCAT	0.478000													13	48					0	0	0.001368	0	0
RMDN3	55177	broad.mit.edu	37	15	41046915	41046915	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr15:41046915C>G	ENST00000260385.6	-	1	1134	c.67G>C	c.(67-69)Ggc>Cgc	p.G23R	RMDN3_ENST00000338376.3_Missense_Mutation_p.G23R					regulator of microtubule dynamics 3																		AATCCAAGGCCGGCGGCGGTA	0.657000													11	13					0	0	0.008291	0	0
CYP2B6	1555	broad.mit.edu	37	19	41515938	41515938	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr19:41515938C>A	ENST00000324071.4	+	6	869	c.862C>A	c.(862-864)Ctc>Atc	p.L288I	CYP2B6_ENST00000593831.1_Intron|CYP2B6_ENST00000330446.5_Intron	NM_000767.4	NP_000758.1	P20813	CP2B6_HUMAN	cytochrome P450, family 2, subfamily B, polypeptide 6	288					cellular ketone metabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(20;0.00322)		Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361)	CCACCAGAACCTCAACCTCAA	0.552000													14	40					3.45872e-05	3.9188e-05	0.004007	1	0
GNL3L	54552	broad.mit.edu	37	X	54574706	54574706	+	Silent	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chrX:54574706G>T	ENST00000336470.4	+	9	814	c.675G>T	c.(673-675)ctG>ctT	p.L225L	GNL3L_ENST00000360845.2_Silent_p.L225L	NM_019067.5	NP_061940.1	Q9NVN8	GNL3L_HUMAN	guanine nucleotide binding protein-like 3 (nucleolar)-like	225					ribosome biogenesis	nucleolus	GTP binding			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	30						AGTCACTGCTGAAAAGCAAAG	0.493000													15	27					0.000422831	0.000461039	0.004007	1	0
GAB4	128954	broad.mit.edu	37	22	17447120	17447120	+	Silent	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr22:17447120C>A	ENST00000400588.1	-	6	1265	c.1158G>T	c.(1156-1158)gtG>gtT	p.V386V		NM_001037814.1	NP_001032903.1	Q2WGN9	GAB4_HUMAN	GRB2-associated binding protein family, member 4	386										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(24)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44		all_epithelial(15;0.112)|Lung NSC(13;0.248)				GACATGAGCCCACAGGGATGC	0.597000													11	44					5.50884e-06	6.35601e-06	0.001368	1	0
GPC4	2239	broad.mit.edu	37	X	132548941	132548941	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chrX:132548941G>T	ENST00000370828.3	-	1	577	c.53C>A	c.(52-54)gCc>gAc	p.A18D		NM_001448.2	NP_001439.2	O75487	GPC4_HUMAN	glypican 4	18					anatomical structure morphogenesis|cell proliferation	anchored to membrane|external side of plasma membrane|extracellular space|insoluble fraction|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;0.000127)					CAGCAGCGCGGCGCTGAGCAC	0.647000													11	21					3.07112e-06	3.57762e-06	0.000978	1	0
MDGA2	161357	broad.mit.edu	37	14	47530713	47530713	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr14:47530713G>T	ENST00000426342.1	-	7	1116	c.370C>A	c.(370-372)Cgt>Agt	p.R124S	MDGA2_ENST00000439988.2_Missense_Mutation_p.R353S|MDGA2_ENST00000357362.3_Missense_Mutation_p.R124S|MDGA2_ENST00000399232.2_Missense_Mutation_p.R422S	NM_182830.3	NP_878250.2	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	353	Ig-like 1.				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						TTCACCTCACGGCCAATCTGG	0.383000													12	36					0.00010058	0.000111516	0.001368	1	0
SELP	6403	broad.mit.edu	37	1	169582879	169582879	+	Silent	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr1:169582879G>T	ENST00000263686.6	-	4	571	c.534C>A	c.(532-534)atC>atA	p.I178I	SELP_ENST00000367791.2_Silent_p.I178I|SELP_ENST00000367794.2_Silent_p.I178I|SELP_ENST00000458599.2_Silent_p.I178I|SELP_ENST00000367793.2_Silent_p.I178I|SELP_ENST00000367788.2_Silent_p.I178I|SELP_ENST00000367786.2_Silent_p.I178I|SELP_ENST00000367792.2_Silent_p.I178I	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN	selectin P (granule membrane protein 140kDa, antigen CD62)	178	EGF-like.				platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)	TGTAGTTCCCGATGGTCTCGA	0.473000													19	44					2.37509e-13	3.52732e-13	0.010504	1	0
TOX2	84969	broad.mit.edu	37	20	42680075	42680075	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr20:42680075G>T	ENST00000358131.5	+	4	776	c.568G>T	c.(568-570)Ggc>Tgc	p.G190C	TOX2_ENST00000423191.1_Missense_Mutation_p.G139C|TOX2_ENST00000341197.3_Missense_Mutation_p.G181C|TOX2_ENST00000372999.1_Missense_Mutation_p.G139C|TOX2_ENST00000435864.2_Missense_Mutation_p.G59C	NM_001098798.1	NP_001092268.1	Q96NM4	TOX2_HUMAN	TOX high mobility group box family member 2	190					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)			CTCGCAGATGGGCATCCGGAG	0.677000													4	24					1.024e-07	1.27823e-07	0.000602	1	0
DOCK2	1794	broad.mit.edu	37	5	169135183	169135183	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr5:169135183G>T	ENST00000256935.8	+	15	1474	c.1394G>T	c.(1393-1395)tGc>tTc	p.C465F	DOCK2_ENST00000540750.1_5'UTR|DOCK2_ENST00000520908.1_5'UTR	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	465	DHR-1.				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AATGCAATTTGCGTGGGAGCA	0.463000													5	14					0.00116845	0.00125327	0.001168	1	0
KCNV2	169522	broad.mit.edu	37	9	2729457	2729457	+	Silent	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr9:2729457C>A	ENST00000382082.3	+	2	1606	c.1368C>A	c.(1366-1368)tcC>tcA	p.S456S		NM_133497.3	NP_598004.1	Q8TDN2	KCNV2_HUMAN	potassium channel, subfamily V, member 2	456						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	35				GBM - Glioblastoma multiforme(50;0.0257)		TGAGCATCTCCACCGTGGGCT	0.532000													35	13					1.15183e-24	2.10587e-24	0.009718	1	0
MUC16	94025	broad.mit.edu	37	19	9082425	9082425	+	Silent	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr19:9082425G>T	ENST00000397910.4	-	1	9593	c.9390C>A	c.(9388-9390)ccC>ccA	p.P3130P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3131	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGGGTTCTGTGGGAGAAGAGA	0.488000													27	57					3.01185e-09	3.94318e-09	0.003954	1	0
HYDIN	54768	broad.mit.edu	37	16	70871670	70871670	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr16:70871670G>C	ENST00000393567.2	-	77	13315	c.13165C>G	c.(13165-13167)Caa>Gaa	p.Q4389E		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	4389										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				ATGAGTTCTTGATAGTTGATA	0.438000													11	22					0	0	0.001855	0	0
TTN	7273	broad.mit.edu	37	2	179440483	179440483	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr2:179440483G>T	ENST00000589042.1	-	326	70600	c.70376C>A	c.(70375-70377)cCt>cAt	p.P23459H	TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P14394H|TTN_ENST00000342175.6_Missense_Mutation_p.P14586H|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P20891H|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P14519H|TTN_ENST00000591111.1_Missense_Mutation_p.P21818H|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586452.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	21818	Fibronectin type-III 70.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATCTATCAGAGGGAGGTCCCA	0.507000													50	60					5.82388e-19	9.86314e-19	0.003610	1	0
ABI3	51225	broad.mit.edu	37	17	47297531	47297531	+	Splice_Site	SNP	C	C	T	rs147987389		TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr17:47297531C>T	ENST00000225941.1	+	6	1143	c.644_splice	c.e6-1	p.G215_splice	ABI3_ENST00000419580.2_Splice_Site_p.G209_splice	NM_001135186.1|NM_016428.2	NP_001128658.1|NP_057512.1	Q9P2A4	ABI3_HUMAN	ABI family, member 3	215					cellular component movement|regulation of cell migration	cytoplasm|lamellipodium	protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	12			Epithelial(5;6.37e-06)|all cancers(6;6.36e-05)			TGGTGTTCAGCAGCGCCGAAG	0.682000										HNSCC(55;0.14)			5	34					0	0	0.001984	0	0
AR	367	broad.mit.edu	37	X	66941747	66941747	+	Nonsense_Mutation	SNP	G	G	A	rs137852565		TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chrX:66941747G>A	ENST00000374690.3	+	6	2915	c.2391G>A	c.(2389-2391)tgG>tgA	p.W797*	AR_ENST00000396044.3_Intron|AR_ENST00000396043.2_Nonsense_Mutation_p.W265*	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN	androgen receptor	796	Interaction with MYST2.|Ligand-binding.				cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport	cytoplasm|nuclear chromatin|nucleoplasm	androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624)	AGTTTGGATGGCTCCAAATCA	0.527000									Androgen Insensitivity Syndrome				16	29					0	0	0.004990	0	0
ZIC1	7545	broad.mit.edu	37	3	147130396	147130396	+	Missense_Mutation	SNP	C	C	A	rs138369951	by1000genomes	TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr3:147130396C>A	ENST00000282928.4	+	2	1803	c.1074C>A	c.(1072-1074)agC>agA	p.S358R		NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN	Zic family member 1	358					behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						TGCACACGAGCGACAAGCCCT	0.582000													40	77					7.05121e-23	1.26207e-22	0.002522	1	0
SLC26A10	65012	broad.mit.edu	37	12	58018936	58018936	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr12:58018936G>A	ENST00000320442.4	+	11	1686	c.1375G>A	c.(1375-1377)Gca>Aca	p.A459T	SLC26A10_ENST00000379218.2_3'UTR|SLC26A10_ENST00000490243.1_3'UTR	NM_133489.2	NP_597996.2	Q8NG04	S2610_HUMAN	solute carrier family 26, member 10	459	STAS.					integral to membrane	antiporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)	19	Melanoma(17;0.122)					CCCAATGGTTGCAGGTGAGAT	0.512000													87	195					0	0	0.003610	0	0
C11orf54	28970	broad.mit.edu	37	11	93492964	93492964	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr11:93492964G>T	ENST00000528288.1	+	7	799	c.564G>T	c.(562-564)ttG>ttT	p.L188F	C11orf54_ENST00000528099.1_Missense_Mutation_p.L238F|C11orf54_ENST00000540113.1_Missense_Mutation_p.L219F|C11orf54_ENST00000331239.4_Missense_Mutation_p.L238F|C11orf54_ENST00000354421.3_Missense_Mutation_p.L238F	NM_014039.2	NP_054758.2	Q9H0W9	CK054_HUMAN	chromosome 11 open reading frame 54	238						nucleus	hydrolase activity, acting on ester bonds|protein binding|zinc ion binding			NS(1)|endometrium(1)|large_intestine(1)|lung(5)	8		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				ATAAATGGTTGCATTTTTATG	0.338000													28	75					3.65163e-15	5.68555e-15	0.006320	1	0
MYLK4	340156	broad.mit.edu	37	6	2693048	2693048	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr6:2693048C>A	ENST00000274643.7	-	3	547	c.205G>T	c.(205-207)Gtc>Ttc	p.V69F	MYLK4_ENST00000268446.5_Missense_Mutation_p.V69F	NM_001012418.3	NP_001012418.2	Q86YV6	MYLK4_HUMAN	myosin light chain kinase family, member 4	69							ATP binding|protein serine/threonine kinase activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(2)|skin(1)	23	Ovarian(93;0.0412)	all_hematologic(90;0.0897)				TTGCTTTTGACGGGCATCCTT	0.433000													11	31					2.62699e-14	3.99567e-14	0.003163	1	0
LTF	4057	broad.mit.edu	37	3	46480871	46480871	+	Silent	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr3:46480871G>A	ENST00000231751.4	-	15	2119	c.1824C>T	c.(1822-1824)tgC>tgT	p.C608C	LTF_ENST00000417439.1_Silent_p.C606C|LTF_ENST00000493056.1_5'UTR|LTF_ENST00000426532.2_Silent_p.C564C	NM_002343.3	NP_002334.2	P02788	TRFL_HUMAN	lactotransferrin	608	Transferrin-like 2.				cellular iron ion homeostasis|defense response to bacterium|humoral immune response|iron ion transport	extracellular region|stored secretory granule	ferric iron binding|heparin binding|protein binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	40				all cancers(1;7.55e-14)|GBM - Glioblastoma multiforme(1;2.1e-09)|Epithelial(1;9.25e-07)|Colorectal(1;3.81e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00129)|COAD - Colon adenocarcinoma(1;0.00308)|KIRC - Kidney renal clear cell carcinoma(197;0.0205)|Kidney(197;0.0242)|OV - Ovarian serous cystadenocarcinoma(275;0.089)	Pefloxacin(DB00487)	TGGCAAGATGGCAGCTTCTAG	0.547000													25	21					0	0	0.003954	0	0
TSIX	9383	broad.mit.edu	37	X	73048957	73048957	+	RNA	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chrX:73048957G>A	ENST00000604411.1	+	0	36918				XIST_ENST00000429829.1_lincRNA	NR_003255.2																						CTTCAGGTGGGAAGGCTGACT	0.453000													4	32					0	0	0.009096	0	0
COL2A1	1280	broad.mit.edu	37	12	48377872	48377872	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr12:48377872C>G	ENST00000380518.3	-	29	2103	c.1939G>C	c.(1939-1941)Gct>Cct	p.A647P	COL2A1_ENST00000493991.1_5'UTR|COL2A1_ENST00000337299.6_Missense_Mutation_p.A578P	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	647	Triple-helical region.				axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	GTACTTACAGCAGGGCCAGGG	0.582000													8	20					0	0	0.008291	0	0
MURC	347273	broad.mit.edu	37	9	103348308	103348308	+	Missense_Mutation	SNP	A	A	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr9:103348308A>G	ENST00000307584.5	+	2	735	c.670A>G	c.(670-672)Aga>Gga	p.R224G		NM_001018116.1	NP_001018126.1	Q5BKX8	MURC_HUMAN	muscle-related coiled-coil protein	224					cell differentiation|muscle organ development|transcription, DNA-dependent					endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)	16		Acute lymphoblastic leukemia(62;0.0461)				AATTAGAACTAGAATAGTGAC	0.468000													62	29					0	0	0.003610	0	0
KCNU1	157855	broad.mit.edu	37	8	36691150	36691150	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr8:36691150G>T	ENST00000399881.3	+	11	1222	c.1185G>T	c.(1183-1185)atG>atT	p.M395I		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	395	RCK N-terminal.					voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		GATCTGCAATGAAGTGGGAGG	0.393000													4	22					0.00909568	0.0094684	0.009096	1	0
RTN4	57142	broad.mit.edu	37	2	55253785	55253785	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr2:55253785C>A	ENST00000337526.6	-	3	1693	c.1450G>T	c.(1450-1452)Gga>Tga	p.G484*	RTN4_ENST00000404909.1_Nonsense_Mutation_p.G278*|RTN4_ENST00000354474.6_Nonsense_Mutation_p.G252*|RTN4_ENST00000317610.7_Intron|RTN4_ENST00000402434.2_Intron|RTN4_ENST00000357732.4_Intron|RTN4_ENST00000405240.1_Nonsense_Mutation_p.G278*|RTN4_ENST00000357376.3_Nonsense_Mutation_p.G278*|RTN4_ENST00000394611.2_Nonsense_Mutation_p.G278*	NM_020532.4	NP_065393.1	Q9NQC3	RTN4_HUMAN	reticulon 4	484					apoptosis|axonal fasciculation|cerebral cortex radial glia guided migration|endoplasmic reticulum tubular network organization|negative regulation of anti-apoptosis|negative regulation of axon extension|nerve growth factor receptor signaling pathway|regulation of apoptosis|regulation of branching morphogenesis of a nerve|regulation of cell migration	integral to endoplasmic reticulum membrane|nuclear envelope|plasma membrane	protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(1)|skin(1)|stomach(1)	36						GTAGGATCTCCTAACAAAGGA	0.388000													44	88					2.26627e-22	4.02646e-22	0.007835	1	0
EEF2K	29904	broad.mit.edu	37	16	22256000	22256000	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr16:22256000G>T	ENST00000263026.5	+	3	770	c.296G>T	c.(295-297)tGg>tTg	p.W99L		NM_013302.3	NP_037434.1	O00418	EF2K_HUMAN	eukaryotic elongation factor-2 kinase	99					insulin receptor signaling pathway|translational elongation	cytosol	ATP binding|calcium ion binding|calmodulin binding|elongation factor-2 kinase activity|translation factor activity, nucleic acid binding			breast(1)|central_nervous_system(1)|endometrium(8)|large_intestine(2)|lung(13)|ovary(1)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(48;0.0223)		CCCGACCCCTGGGCTGAGTTC	0.587000													35	45					2.59497e-14	3.96363e-14	0.007835	1	0
TPR	7175	broad.mit.edu	37	1	186287706	186287706	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr1:186287706C>A	ENST00000367478.3	-	48	6990	c.6694G>T	c.(6694-6696)Gat>Tat	p.D2232Y		NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	2232					carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity			autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		TCCGAAGCATCAGAGGTGGTG	0.383000			T	NTRK1	papillary thyroid								14	39					0.00185496	0.00198227	0.001855	1	0
HIVEP2	3097	broad.mit.edu	37	6	143093749	143093749	+	Silent	SNP	C	C	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr6:143093749C>G	ENST00000367603.2	-	5	2869	c.2127G>C	c.(2125-2127)acG>acC	p.T709T	HIVEP2_ENST00000012134.2_Silent_p.T709T|HIVEP2_ENST00000367604.1_Silent_p.T709T	NM_006734.3	NP_006725.3	P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	709					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		AGATCATGGGCGTGTCCTCTT	0.522000													36	40					0	0	0.003755	0	0
WNT10B	7480	broad.mit.edu	37	12	49361734	49361734	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr12:49361734G>T	ENST00000301061.4	-	4	1054	c.706C>A	c.(706-708)Cgc>Agc	p.R236S	WNT10B_ENST00000407467.1_Silent_p.G188G|WNT10B_ENST00000403957.1_Silent_p.G170G	NM_003394.3	NP_003385.2	O00744	WN10B_HUMAN	wingless-type MMTV integration site family, member 10B	236					axis specification|bone trabecula formation|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|chondrocyte differentiation|female gonad development|hemopoietic stem cell proliferation|midbrain-hindbrain boundary development|myoblast cell differentiation involved in skeletal muscle regeneration|negative regulation of epithelial cell proliferation|negative regulation of fat cell differentiation|neuron differentiation|positive regulation of anagen|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cell proliferation|positive regulation of epithelial cell differentiation|positive regulation of osteoblast differentiation|protein stabilization|regulation of skeletal muscle tissue development|skeletal muscle fiber development|smoothened signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity	p.R236C(1)		central_nervous_system(1)|large_intestine(5)|lung(12)|prostate(1)|skin(4)	23						CATACCTGGCGCCCCACCCTG	0.517000													16	28					2.62699e-14	3.99567e-14	0.003163	1	0
FAM47B	170062	broad.mit.edu	37	X	34961615	34961615	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chrX:34961615C>A	ENST00000329357.5	+	1	703	c.667C>A	c.(667-669)Ctc>Atc	p.L223I		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	223	Pro-rich.									breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						GGTGTCCAGTCTCCGCCCAGA	0.662000													32	68					3.90053e-15	6.06656e-15	0.002445	1	0
C9orf163	158055	broad.mit.edu	37	9	139379174	139379174	+	Missense_Mutation	SNP	G	G	T	rs142971274		TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr9:139379174G>T	ENST00000354376.1	+	1	1228	c.274G>T	c.(274-276)Gtg>Ttg	p.V92L		NM_152571.2	NP_689784.1	Q8N9P6	CI163_HUMAN	chromosome 9 open reading frame 163	92							protein binding			kidney(1)|lung(1)	2		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;4.36e-06)|Epithelial(140;5.65e-06)		TCCGGCTGACGTGGCACCAGG	0.632000													19	13					3.5997e-14	5.46369e-14	0.002299	1	0
HEPACAM2	253012	broad.mit.edu	37	7	92855759	92855759	+	Translation_Start_Site	SNP	T	T	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr7:92855759T>C	ENST00000394468.2	-	1	78	c.1A>G	c.(1-3)Atg>Gtg	p.M1V	HEPACAM2_ENST00000453812.2_Start_Codon_SNP_p.M1V	NM_001039372.1	NP_001034461.1	A8MVW5	HECA2_HUMAN	HEPACAM family member 2	1						integral to membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(4)|skin(1)	28						TCCTGTCCCATGCATGCAGTG	0.493000													8	252					0	0	0.003080	0	0
OR14C36	127066	broad.mit.edu	37	1	248512430	248512430	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr1:248512430T>A	ENST00000317861.1	+	1	354	c.354T>A	c.(352-354)caT>caA	p.H118Q		NM_001001918.1	NP_001001918.1	Q8NHC7	O14CZ_HUMAN	olfactory receptor, family 14, subfamily C, member 36	118					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(2)|lung(20)|ovary(2)|prostate(3)|skin(7)|upper_aerodigestive_tract(2)	43						TTATGGCTCATGACCGCTATG	0.502000													13	16					0	0	0.001855	0	0
SLC8A1	6546	broad.mit.edu	37	2	40656328	40656328	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr2:40656328G>C	ENST00000406785.1	-	2	1282	c.1093C>G	c.(1093-1095)Cgc>Ggc	p.R365G	SLC8A1_ENST00000542024.1_Missense_Mutation_p.R365G|SLC8A1_ENST00000408028.2_Missense_Mutation_p.R365G|SLC8A1_ENST00000542756.1_Missense_Mutation_p.R365G|SLC8A1_ENST00000332839.4_Missense_Mutation_p.R365G|SLC8A1_ENST00000406391.2_Missense_Mutation_p.R365G|SLC8A1_ENST00000405269.1_Missense_Mutation_p.R365G|SLC8A1_ENST00000405901.3_Missense_Mutation_p.R365G|SLC8A1_ENST00000403092.1_Missense_Mutation_p.R365G|SLC8A1_ENST00000402441.1_Missense_Mutation_p.R365G			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	365					cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	GCTTGAATGCGATAAAATGCT	0.433000													12	66					0	0	0.002450	0	0
CHI3L1	1116	broad.mit.edu	37	1	203149637	203149637	+	Silent	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr1:203149637G>T	ENST00000255409.3	-	8	980	c.855C>A	c.(853-855)ggC>ggA	p.G285G		NM_001276.2	NP_001267.2	P36222	CH3L1_HUMAN	chitinase 3-like 1 (cartilage glycoprotein-39)	285					chitin catabolic process	extracellular space|proteinaceous extracellular matrix	cation binding|chitinase activity|extracellular matrix structural constituent|sugar binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|skin(1)	18						TGGTGAACCGGCCTGGAATTC	0.587000													13	24					2.32078e-09	3.05778e-09	0.003163	1	0
OR9K2	441639	broad.mit.edu	37	12	55523708	55523708	+	Silent	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr12:55523708C>A	ENST00000305377.5	+	1	244	c.156C>A	c.(154-156)ctC>ctA	p.L52L		NM_001005243.1	NP_001005243.1	Q8NGE7	OR9K2_HUMAN	olfactory receptor, family 9, subfamily K, member 2	52					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(3)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(2)	31						ACATTCTCCTCTTCCTGCTAT	0.448000													75	109					3.86735e-44	7.50659e-44	0.003610	1	0
TRBV6-7	28600	broad.mit.edu	37	7	142143715	142143715	+	RNA	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr7:142143715G>T	ENST00000390373.2	-	0	280																											CAGCTTGAGGGGGAAATCCTC	0.502000													60	32					1.53122e-18	2.57815e-18	0.003610	1	0
NXPE1	120400	broad.mit.edu	37	11	114393655	114393655	+	Silent	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr11:114393655G>A	ENST00000536271.1	-	3	1445	c.202C>T	c.(202-204)Ctg>Ttg	p.L68L	NXPE1_ENST00000251921.2_Silent_p.L210L|NXPE1_ENST00000424269.1_Silent_p.L352L					neurexophilin and PC-esterase domain family, member 1																		GAGTCTCCCAGGAGGTAAATG	0.353000													22	26					0	0	0.003954	0	0
COL5A2	1290	broad.mit.edu	37	2	189899839	189899839	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr2:189899839G>T	ENST00000374866.3	-	53	4430	c.4156C>A	c.(4156-4158)Cag>Aag	p.Q1386K		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	1386	Fibrillar collagen NC1.				axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			AAAGTCATCTGAGTAATGGCT	0.393000													17	64					1.00905e-13	1.51724e-13	0.008871	1	0
DST	667	broad.mit.edu	37	6	56397172	56397172	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr6:56397172C>A	ENST00000370754.5	-	64	16984	c.16985G>T	c.(16984-16986)tGg>tTg	p.W5662L	DST_ENST00000340834.4_5'UTR|DST_ENST00000446842.2_Missense_Mutation_p.W5158L|DST_ENST00000370788.2_Missense_Mutation_p.W3396L|DST_ENST00000370769.4_Missense_Mutation_p.W5484L|DST_ENST00000361203.3_Missense_Mutation_p.W5482L|DST_ENST00000312431.6_3'UTR|DST_ENST00000421834.2_Missense_Mutation_p.W3396L|DST_ENST00000244364.6_Missense_Mutation_p.W3070L			Q03001	DYST_HUMAN	dystonin	5482					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CAATGCCTCCCATCTGCTATC	0.398000													24	17					9.57634e-11	1.31312e-10	0.003330	1	0
DNAH3	55567	broad.mit.edu	37	16	21098179	21098179	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr16:21098179G>T	ENST00000261383.3	-	19	2867	c.2868C>A	c.(2866-2868)caC>caA	p.H956Q	DNAH3_ENST00000415178.1_Missense_Mutation_p.H956Q	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	956	Stem (By similarity).				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)		CCTGCTGCCAGTGTCGGTCTT	0.527000													62	72					5.62145e-24	1.01876e-23	0.003610	1	0
SEMA3D	223117	broad.mit.edu	37	7	84727122	84727122	+	Splice_Site	SNP	T	T	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr7:84727122T>A	ENST00000284136.6	-	2	354	c.312_splice	c.e2+1	p.K104_splice	SEMA3D_ENST00000444867.1_Splice_Site_p.K104_splice	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D	104	Sema.				cell differentiation|nervous system development	extracellular region|membrane	receptor activity			NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						TATACTGACCTTCTTAAAATT	0.353000													68	91					0	0	0.003610	0	0
TTN	7273	broad.mit.edu	37	2	179497646	179497646	+	Splice_Site	SNP	T	T	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr2:179497646T>A	ENST00000589042.1	-	234	43436	c.43213_splice	c.e234+1	p.K14404_splice	TTN_ENST00000460472.2_Splice_Site_p.K5339_splice|TTN_ENST00000342175.6_Splice_Site_p.K5531_splice|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Splice_Site_p.K11836_splice|TTN_ENST00000359218.5_Splice_Site_p.K5464_splice|TTN_ENST00000591111.1_Splice_Site_p.K12763_splice|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589487.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	12763							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGAGCATACCTTTCACTTTCA	0.438000													99	81					0	0	0.003610	0	0
NKAPL	222698	broad.mit.edu	37	6	28227326	28227326	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr6:28227326C>A	ENST00000343684.3	+	1	229	c.177C>A	c.(175-177)gaC>gaA	p.D59E		NM_001007531.1	NP_001007532.1	Q5M9Q1	NKAPL_HUMAN	NFKB activating protein-like	59										breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						GTGAGTTGGACGTGGGCGCTC	0.637000													33	52					5.91797e-21	1.03368e-20	0.002445	1	0
DSG4	147409	broad.mit.edu	37	18	28991352	28991352	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr18:28991352C>A	ENST00000359747.4	+	14	2382	c.2353C>A	c.(2353-2355)Ctg>Atg	p.L785M	RP11-534N16.1_ENST00000578477.1_RNA|RP11-534N16.1_ENST00000581856.1_RNA|DSG4_ENST00000308128.4_Missense_Mutation_p.L766M	NM_001134453.1	NP_001127925.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	766					homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			CATGGGAACCCTGCGGGACTA	0.577000													12	51					3.07112e-06	3.57762e-06	0.000978	1	0
HMGCLL1	54511	broad.mit.edu	37	6	55360299	55360299	+	Missense_Mutation	SNP	T	T	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr6:55360299T>G	ENST00000398661.2	-	8	934	c.803A>C	c.(802-804)aAa>aCa	p.K268T	HMGCLL1_ENST00000508459.1_Intron|HMGCLL1_ENST00000274901.4_Missense_Mutation_p.K238T|HMGCLL1_ENST00000370850.2_Missense_Mutation_p.K135T|HMGCLL1_ENST00000308161.4_Missense_Mutation_p.K206T	NM_019036.2	NP_061909.2	Q8TB92	HMGC2_HUMAN	3-hydroxymethyl-3-methylglutaryl-CoA lyase-like 1	268							hydroxymethylglutaryl-CoA lyase activity|metal ion binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31	Lung NSC(77;0.0875)		LUSC - Lung squamous cell carcinoma(124;0.23)			TGGGATTTCTTTCATCACACT	0.433000													50	39					0	0	0.003610	0	0
ABCA10	10349	broad.mit.edu	37	17	67215830	67215830	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr17:67215830C>A	ENST00000269081.4	-	7	1295	c.386G>T	c.(385-387)gGa>gTa	p.G129V	ABCA10_ENST00000416101.2_Missense_Mutation_p.G129V|ABCA10_ENST00000432313.2_Missense_Mutation_p.G129V	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	129					transport	integral to membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					CATAATTTCTCCCTTAGAAAT	0.313000													23	61					4.26978e-12	6.07332e-12	0.003330	1	0
GBP6	163351	broad.mit.edu	37	1	89834176	89834176	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr1:89834176G>T	ENST00000370456.4	+	2	159	c.66G>T	c.(64-66)ttG>ttT	p.L22F	GBP6_ENST00000535065.1_Intron	NM_198460.2	NP_940862.2	Q6ZN66	GBP6_HUMAN	guanylate binding protein family, member 6	22							GTP binding|GTPase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42		Lung NSC(277;0.0908)		all cancers(265;0.0108)|Epithelial(280;0.0398)		AGCAGCTATTGGTGAACCAGC	0.478000													19	52					8.10497e-08	1.0126e-07	0.010504	1	0
OR56B1	387748	broad.mit.edu	37	11	5758365	5758365	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr11:5758365T>A	ENST00000317121.3	+	1	685	c.619T>A	c.(619-621)Tgc>Agc	p.C207S	TRIM5_ENST00000380027.1_Intron	NM_001005180.2	NP_001005180.1	Q8NGI3	O56B1_HUMAN	olfactory receptor, family 56, subfamily B, member 1	207					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	13		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.086)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.184)		AAACAGCATTTGCCAGTTGGT	0.443000													6	39					0	0	0.001168	0	0
CRISP2	7180	broad.mit.edu	37	6	49667590	49667590	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr6:49667590C>A	ENST00000339139.4	-	6	434	c.198G>T	c.(196-198)gaG>gaT	p.E66D		NM_001142407.2|NM_001142408.2|NM_001142417.2|NM_001142435.2|NM_001261822.1|NM_003296.3	NP_001135879.1|NP_001135880.1|NP_001135889.1|NP_001135907.1|NP_001248751.1|NP_003287.1	P16562	CRIS2_HUMAN	cysteine-rich secretory protein 2	66						extracellular space				kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	19	Lung NSC(77;0.0161)		KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)			TCGTTGTTACCTCTCTGCTCC	0.348000													13	28					3.27435e-08	4.13002e-08	0.002450	1	0
SPAM1	6677	broad.mit.edu	37	7	123599874	123599874	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr7:123599874G>A	ENST00000340011.5	+	5	1738	c.1381G>A	c.(1381-1383)Gat>Aat	p.D461N	SPAM1_ENST00000223028.7_Missense_Mutation_p.D461N|SPAM1_ENST00000460182.1_Missense_Mutation_p.D461N|SPAM1_ENST00000402183.2_Missense_Mutation_p.D461N|SPAM1_ENST00000439500.1_Missense_Mutation_p.D461N	NM_003117.4	NP_003108.2	P38567	HYALP_HUMAN	sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding)	461					binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane	anchored to membrane|plasma membrane	hyalurononglucosaminidase activity			breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46					Hyaluronidase(DB00070)	GTGTATTGCTGATGGTGTCTG	0.388000													26	36					0	0	0.004656	0	0
LAMA1	284217	broad.mit.edu	37	18	7034485	7034485	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr18:7034485G>T	ENST00000389658.3	-	14	2137	c.2044C>A	c.(2044-2046)Ctt>Att	p.L682I		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	682	Laminin IV type A 1.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TACCTGTAAAGAGCCATTTTT	0.363000													43	9					3.4597e-24	6.29353e-24	0.003610	1	0
KIRREL	55243	broad.mit.edu	37	1	158059251	158059251	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr1:158059251G>T	ENST00000368172.1	+	5	458	c.446G>T	c.(445-447)aGg>aTg	p.R149M	KIRREL_ENST00000360089.4_Intron|KIRREL_ENST00000368173.3_Missense_Mutation_p.R351M|KIRREL_ENST00000392272.2_Intron|KIRREL_ENST00000416935.2_Intron|KIRREL_ENST00000359209.6_Intron			Q96J84	KIRR1_HUMAN	kin of IRRE like (Drosophila)	348	Ig-like C2-type 2.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1)	38	all_hematologic(112;0.0378)					TAGGGGCCCAGGCCTCCTGGC	0.622000													14	20					0.00244969	0.00260437	0.002450	1	0
NUP205	23165	broad.mit.edu	37	7	135282896	135282896	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr7:135282896C>T	ENST00000285968.6	+	15	2241	c.2215C>T	c.(2215-2217)Ctt>Ttt	p.L739F	NUP205_ENST00000440390.2_3'UTR	NM_015135.2	NP_055950.1	Q92621	NU205_HUMAN	nucleoporin 205kDa	739					carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						TTTGCAGTTCCTTAGAGACTC	0.458000													112	62					0	0	0.003610	0	0
CR1L	1379	broad.mit.edu	37	1	207881565	207881565	+	Silent	SNP	G	G	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr1:207881565G>C	ENST00000508064.2	+	10	1431	c.1371G>C	c.(1369-1371)tcG>tcC	p.S457S	CR1L_ENST00000530905.1_Intron	NM_175710.1	NP_783641.1	Q2VPA4	CR1L_HUMAN	complement component (3b/4b) receptor 1-like	457	Sushi 7.					cytoplasm|extracellular region|membrane				endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						GTATCCTCTCGGGCAATACTG	0.453000													24	126					0	0	0.004656	0	0
NOX3	50508	broad.mit.edu	37	6	155749951	155749951	+	Silent	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr6:155749951G>T	ENST00000159060.2	-	9	1224	c.1122C>A	c.(1120-1122)ctC>ctA	p.L374L		NM_015718.2	NP_056533.1	Q9HBY0	NOX3_HUMAN	NADPH oxidase 3	374	FAD-binding FR-type.						electron carrier activity|flavin adenine dinucleotide binding|iron ion binding			cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	45		Breast(66;0.0183)		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)		AGGGCTCCTGGAGGGCCTGTC	0.532000													10	43					0.00829132	0.00866847	0.008291	1	0
SIPA1L1	26037	broad.mit.edu	37	14	72190593	72190593	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr14:72190593G>A	ENST00000555818.1	+	16	4849	c.4501G>A	c.(4501-4503)Gac>Aac	p.D1501N	SIPA1L1_ENST00000358550.2_Missense_Mutation_p.D1480N|SIPA1L1_ENST00000381232.3_Missense_Mutation_p.D1480N|SIPA1L1_ENST00000537413.1_Missense_Mutation_p.D955N|SIPA1L1_ENST00000554874.1_3'UTR	NM_015556.1	NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	1501					actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		GGGATTTATGGACACGAGAAA	0.458000													8	53					0	0	0.003080	0	0
ANO3	63982	broad.mit.edu	37	11	26619958	26619958	+	Silent	SNP	C	C	A	rs148526395		TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr11:26619958C>A	ENST00000256737.3	+	15	2346	c.1494C>A	c.(1492-1494)acC>acA	p.T498T	ANO3_ENST00000525139.1_Silent_p.T482T|ANO3_ENST00000537978.1_Silent_p.T482T|ANO3_ENST00000531568.1_Silent_p.T352T	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3	498						chloride channel complex	chloride channel activity			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						GTATACTGACCTATACTTGGG	0.368000													172	81					1.06793e-96	2.11251e-96	0.003610	1	0
CHD1	1105	broad.mit.edu	37	5	98236897	98236897	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr5:98236897G>C	ENST00000284049.3	-	5	729	c.580C>G	c.(580-582)Caa>Gaa	p.Q194E		NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1	194					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding			NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	TACCTATTTTGAGGTTTTCTG	0.328000													23	79					0	0	0.004656	0	0
COL24A1	255631	broad.mit.edu	37	1	86304278	86304278	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr1:86304278T>A	ENST00000370571.2	-	43	4037	c.3671A>T	c.(3670-3672)gAg>gTg	p.E1224V	COL24A1_ENST00000436319.1_Missense_Mutation_p.E1224V	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	1224	Collagen-like 13.				cell adhesion	collagen	extracellular matrix structural constituent			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		CTTATATCCCTCTGCTCCAGG	0.398000													30	41					0	0	0.009535	0	0
RSC1A1	6248	broad.mit.edu	37	1	15987376	15987376	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr1:15987376G>T	ENST00000345034.1	+	1	1013	c.1013G>T	c.(1012-1014)tGt>tTt	p.C338F	DDI2_ENST00000480945.1_3'UTR	NM_006511.1	NP_006502.1	Q92681	RSCA1_HUMAN	regulatory solute carrier protein, family 1, member 1	338					negative regulation of transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transport	cell junction|Golgi apparatus|nucleus	ion channel inhibitor activity			kidney(1)|large_intestine(3)|lung(6)|ovary(1)	11		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00276)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.73e-07)|COAD - Colon adenocarcinoma(227;3.49e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000114)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TGTGGCAGTTGTCAGCCTTCT	0.433000													13	37					2.27111e-07	2.77282e-07	0.001368	1	0
NCOR2	9612	broad.mit.edu	37	12	124827678	124827678	+	Silent	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr12:124827678G>A	ENST00000356219.3	-	34	4985	c.4830C>T	c.(4828-4830)caC>caT	p.H1610H	NCOR2_ENST00000429285.2_Silent_p.H1593H|NCOR2_ENST00000404121.2_Silent_p.H1164H|NCOR2_ENST00000397355.1_Silent_p.H1594H|NCOR2_ENST00000405201.1_Silent_p.H1603H|NCOR2_ENST00000404621.1_Silent_p.H1593H	NM_006312.5	NP_006303.4	Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	1611					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		GGTGTGGGTGGTGCTCGGGCA	0.657000													15	40					0	0	0.004990	0	0
BCL6	604	broad.mit.edu	37	3	187447752	187447752	+	Silent	SNP	C	C	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr3:187447752C>G	ENST00000406870.2	-	5	807	c.441G>C	c.(439-441)cgG>cgC	p.R147R	BCL6_ENST00000232014.4_Silent_p.R147R|RP11-211G3.3_ENST00000449623.1_Intron|BCL6_ENST00000450123.2_Silent_p.R147R|RP11-211G3.3_ENST00000437407.1_Intron	NM_001706.4	NP_001697.2	P41182	BCL6_HUMAN	B-cell CLL/lymphoma 6	147					negative regulation of B cell apoptosis|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|protein import into nucleus, translocation|regulation of germinal center formation|response to DNA damage stimulus	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(9)|lung(10)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	40	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)		GCATCAGCATCCGGCTGTTGA	0.547000			"""T, Mis"""	"""IG loci, ZNFN1A1, LCP1, PIM1, TFRC, CIITA, NACA, HSPCB, HSPCA, HIST1H4I, IL21R,  POU2AF1, ARHH, EIF4A2, SFRS3"""	"""NHL, CLL"""								7	119					0	0	0.003080	0	0
CNKSR2	22866	broad.mit.edu	37	X	21627666	21627666	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chrX:21627666G>T	ENST00000425654.2	+	19	3013	c.2533G>T	c.(2533-2535)Gag>Tag	p.E845*	CNKSR2_ENST00000279451.4_Nonsense_Mutation_p.E875*|CNKSR2_ENST00000543067.1_Nonsense_Mutation_p.E826*|CNKSR2_ENST00000379510.3_Nonsense_Mutation_p.E875*	NM_001168647.1	NP_001162118.1	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras 2	875					regulation of signal transduction	cytoplasm|membrane	protein binding			breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						GCAACCCCCagaggtggagga	0.522000													15	27					1.3612e-06	1.61295e-06	0.003163	1	0
ZNF831	128611	broad.mit.edu	37	20	57767204	57767204	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr20:57767204G>A	ENST00000371030.2	+	1	1130	c.1130G>A	c.(1129-1131)gGc>gAc	p.G377D		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	377						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					GAGGGGGAgggcggcccgggc	0.761000													5	20					0	0	0.000602	0	0
CSMD3	114788	broad.mit.edu	37	8	113484863	113484863	+	Silent	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr8:113484863C>T	ENST00000297405.5	-	32	5596	c.5352G>A	c.(5350-5352)gtG>gtA	p.V1784V	CSMD3_ENST00000455883.2_Silent_p.V1680V|CSMD3_ENST00000352409.3_Silent_p.V1784V|CSMD3_ENST00000343508.3_Silent_p.V1744V	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1784	CUB 10.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AATTATGTCCCACACTGTAAT	0.363000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			9	68					0	0	0.006214	0	0
IRS1	3667	broad.mit.edu	37	2	227662648	227662648	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr2:227662648C>A	ENST00000305123.4	-	1	1827	c.807G>T	c.(805-807)aaG>aaT	p.K269N		NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1	269	Ser-rich.				fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		AGGACTGGCTCTTGCTGCGAG	0.637000											OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	17	46					1.99824e-07	2.45832e-07	0.004990	1	0
DMD	1756	broad.mit.edu	37	X	32632420	32632420	+	Splice_Site	SNP	C	C	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chrX:32632420C>G	ENST00000357033.4	-	12	1688	c.1482_splice	c.e12+1	p.K494_splice	DMD_ENST00000378677.2_Splice_Site_p.K490_splice|DMD_ENST00000288447.4_Splice_Site_p.K486_splice	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	494					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				ATACACCTACCTTATGTTGTT	0.398000													14	34					0	0	0.004007	0	0
MAP2	4133	broad.mit.edu	37	2	210558660	210558660	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr2:210558660G>C	ENST00000360351.4	+	7	2272	c.1766G>C	c.(1765-1767)gGc>gCc	p.G589A	MAP2_ENST00000392194.1_Intron|MAP2_ENST00000361559.4_Intron|MAP2_ENST00000447185.1_Missense_Mutation_p.G585A|MAP2_ENST00000199940.6_Intron	NM_002374.3	NP_002365.3	P11137	MAP2_HUMAN	microtubule-associated protein 2	589					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	ATTGAGCCAGGCAGTGATTAC	0.388000													23	72					0	0	0.002780	0	0
MAMLD1	10046	broad.mit.edu	37	X	149638775	149638775	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chrX:149638775G>T	ENST00000370401.2	+	4	1240	c.930G>T	c.(928-930)ttG>ttT	p.L310F	MAMLD1_ENST00000432680.2_Missense_Mutation_p.L285F|MAMLD1_ENST00000426613.2_Missense_Mutation_p.L285F|MAMLD1_ENST00000262858.5_Missense_Mutation_p.L310F			Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	310					male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37	Acute lymphoblastic leukemia(192;6.56e-05)					TGAAGGCGTTGGCAGCCAGCA	0.637000													14	41					4.36969e-10	5.84779e-10	0.001855	1	0
CSMD2	114784	broad.mit.edu	37	1	34286079	34286079	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr1:34286079G>T	ENST00000373381.4	-	8	1366	c.1190C>A	c.(1189-1191)tCg>tAg	p.S397*		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	357	Sushi 2.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CCTGAAATCCGAGCCTAGTCT	0.488000													47	113					1.11015e-26	2.06619e-26	0.003610	1	0
FREM1	158326	broad.mit.edu	37	9	14737481	14737481	+	Nonsense_Mutation	SNP	A	A	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr9:14737481A>T	ENST00000380881.4	-	38	7271	c.6456T>A	c.(6454-6456)tgT>tgA	p.C2152*	FREM1_ENST00000380880.3_Nonsense_Mutation_p.C2151*|FREM1_ENST00000422223.2_Nonsense_Mutation_p.C2151*|FREM1_ENST00000380894.1_Nonsense_Mutation_p.C687*			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	2151	C-type lectin.				cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		GAACCAAAACACAGCTCTTTC	0.473000													28	9					0	0	0.005443	0	0
NHLRC2	374354	broad.mit.edu	37	10	115668189	115668189	+	Missense_Mutation	SNP	A	A	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr10:115668189A>T	ENST00000369301.3	+	11	2287	c.2075A>T	c.(2074-2076)gAc>gTc	p.D692V		NM_198514.3	NP_940916.2	Q8NBF2	NHLC2_HUMAN	NHL repeat containing 2	692					cell redox homeostasis					breast(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	15				Epithelial(162;0.017)|all cancers(201;0.0187)		TGTAGTGCAGACAGCAGTGCT	0.393000													91	60					0	0	0.003610	0	0
MYLK4	340156	broad.mit.edu	37	6	2679576	2679576	+	Silent	SNP	C	C	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr6:2679576C>G	ENST00000274643.7	-	9	1167	c.825G>C	c.(823-825)gtG>gtC	p.V275V	MYLK4_ENST00000268446.5_Silent_p.V275V	NM_001012418.3	NP_001012418.2	Q86YV6	MYLK4_HUMAN	myosin light chain kinase family, member 4	275	Protein kinase.						ATP binding|protein serine/threonine kinase activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(2)|skin(1)	23	Ovarian(93;0.0412)	all_hematologic(90;0.0897)				AATCATAGTTCACAACTTCAG	0.468000													30	302					0	0	0.003610	0	0
RNASE2	6036	broad.mit.edu	37	14	21423997	21423997	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr14:21423997G>T	ENST00000304625.2	+	2	157	c.67G>T	c.(67-69)Ggc>Tgc	p.G23C		NM_002934.2	NP_002925.1	P10153	RNAS2_HUMAN	ribonuclease, RNase A family, 2 (liver, eosinophil-derived neurotoxin)	23					chemotaxis|RNA catabolic process	extracellular region|lysosome	nucleic acid binding|pancreatic ribonuclease activity			breast(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|stomach(1)	17	all_cancers(95;0.00381)		OV - Ovarian serous cystadenocarcinoma(11;6.3e-09)|Epithelial(56;1.42e-07)|all cancers(55;5.48e-07)	GBM - Glioblastoma multiforme(265;0.0187)		GGCTGTGGAGGGCTCACTCCA	0.463000													17	51					2.5808e-16	4.12472e-16	0.006122	1	0
PLCB1	23236	broad.mit.edu	37	20	8665694	8665694	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr20:8665694C>G	ENST00000378641.3	+	10	1453	c.978C>G	c.(976-978)ttC>ttG	p.F326L	PLCB1_ENST00000378637.2_Missense_Mutation_p.F326L|PLCB1_ENST00000338037.6_Missense_Mutation_p.F326L	NM_182734.1	NP_877398.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	326	PI-PLC X-box.				activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						CTCACTATTTCATTAATTCCT	0.413000													51	95					0	0	0.003610	0	0
PCDHGA2	56113	broad.mit.edu	37	5	140718777	140718777	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr5:140718777G>T	ENST00000394576.2	+	1	239	c.239G>T	c.(238-240)cGa>cTa	p.R80L	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1														breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGAACCCGCGAAGCGGCAGC	0.572000													31	12					5.8336e-16	9.27229e-16	0.003271	1	0
DDX28	55794	broad.mit.edu	37	16	68055793	68055793	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr16:68055793C>A	ENST00000332395.5	-	1	1977	c.1313G>T	c.(1312-1314)gGa>gTa	p.G438V		NM_018380.3	NP_060850.2	Q9NUL7	DDX28_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 28	438	Helicase C-terminal.					mitochondrial nucleoid|nucleus	ATP binding|ATP-dependent helicase activity|RNA binding			central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	13		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0116)|Epithelial(162;0.0474)|all cancers(182;0.233)		CTGGAAGATTCCTACCCTCAT	0.517000													15	30					2.32078e-09	3.05778e-09	0.003163	1	0
PCDHB7	56129	broad.mit.edu	37	5	140553499	140553499	+	Silent	SNP	C	C	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr5:140553499C>G	ENST00000231137.3	+	1	1257	c.1083C>G	c.(1081-1083)ccC>ccG	p.P361P		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN		361	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AAAACTCACCCGAGACAGTCG	0.473000													25	16					0	0	0.003330	0	0
C14orf166B	145497	broad.mit.edu	37	14	77294801	77294801	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr14:77294801C>A	ENST00000216453.5	+	1	127	c.127C>A	c.(127-129)Cct>Act	p.P43T	C14orf166B_ENST00000393774.3_Intron|C14orf166B_ENST00000450042.2_Intron|C14orf166B_ENST00000460005.1_3'UTR			Q0VAA2	CN16B_HUMAN	chromosome 14 open reading frame 166B	0										breast(1)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(1)	18			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0306)		GGCAGCTTCTCCTCAGAAACT	0.547000													10	25					3.07112e-06	3.57762e-06	0.000978	1	0
S1PR1	1901	broad.mit.edu	37	1	101705131	101705131	+	Silent	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr1:101705131C>A	ENST00000305352.6	+	2	966	c.591C>A	c.(589-591)ctC>ctA	p.L197L		NM_001400.4	NP_001391.2	P21453	S1PR1_HUMAN	sphingosine-1-phosphate receptor 1	197					cell adhesion	integral to membrane	lysosphingolipid and lysophosphatidic acid receptor activity			NS(1)|autonomic_ganglia(1)|breast(1)|large_intestine(7)|lung(23)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	43						TGCTGCCGCTCTACCACAAGC	0.567000											OREG0013620	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	50					6.31663e-08	7.92589e-08	0.003163	1	0
IFIT1B	439996	broad.mit.edu	37	10	91143527	91143527	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr10:91143527G>A	ENST00000371809.3	+	2	537	c.457G>A	c.(457-459)Ggt>Agt	p.G153S	LIPA_ENST00000371837.1_Intron	NM_001010987.2	NP_001010987.1	Q5T764	IFT1B_HUMAN	interferon-induced protein with tetratricopeptide repeats 1B	153							binding			endometrium(2)|large_intestine(3)|lung(8)	13						GGCGAAGTGTGGTGGAAAGAA	0.493000													20	39					0	0	0.001882	0	0
TECRL	253017	broad.mit.edu	37	4	65146797	65146797	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr4:65146797G>T	ENST00000381210.3	-	11	1036	c.926C>A	c.(925-927)tCa>tAa	p.S309*	TECRL_ENST00000507440.1_Nonsense_Mutation_p.S309*	NM_001010874.4	NP_001010874.2	Q5HYJ1	TECRL_HUMAN	trans-2,3-enoyl-CoA reductase-like	309					lipid metabolic process	cytoplasm|integral to membrane	oxidoreductase activity, acting on the CH-CH group of donors	p.S309*(1)		endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1)	47						ACTAATCCATGATCCAATCTG	0.284000													12	50					0.000219431	0.000241625	0.002450	1	0
GRIK1	2897	broad.mit.edu	37	21	30959887	30959887	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr21:30959887G>A	ENST00000399914.1	-	11	2068	c.1547C>T	c.(1546-1548)cCt>cTt	p.P516L	GRIK1_ENST00000399913.1_Missense_Mutation_p.P531L|GRIK1_ENST00000309434.7_Missense_Mutation_p.P533L|GRIK1_ENST00000535441.1_Missense_Mutation_p.P533L|GRIK1_ENST00000389125.3_Missense_Mutation_p.P516L|GRIK1_ENST00000327783.4_Missense_Mutation_p.P531L|GRIK1_ENST00000399909.1_Missense_Mutation_p.P516L|GRIK1_ENST00000389124.2_Missense_Mutation_p.P531L|GRIK1_ENST00000399907.1_Missense_Mutation_p.P531L			P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	531					central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					L-Glutamic Acid(DB00142)|Topiramate(DB00273)	GATGGTAAGAGGAGCCACTGC	0.478000													13	13					0	0	0.002450	0	0
PDIA4	9601	broad.mit.edu	37	7	148701251	148701251	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr7:148701251C>G	ENST00000286091.4	-	10	1805	c.1573G>C	c.(1573-1575)Gga>Cga	p.G525R		NM_004911.4	NP_004902.1	P13667	PDIA4_HUMAN	protein disulfide isomerase family A, member 4	525	Thioredoxin 3.				cell redox homeostasis|glycerol ether metabolic process|protein secretion	endoplasmic reticulum lumen|melanosome	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			large_intestine(6)|lung(15)|ovary(2)|prostate(1)	24	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00385)			TTGACGGGTCCCTTGTTGTTC	0.567000													75	33					0	0	0.003610	0	0
CCDC87	55231	broad.mit.edu	37	11	66358707	66358707	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr11:66358707C>A	ENST00000333861.3	-	1	1847	c.1780G>T	c.(1780-1782)Gtg>Ttg	p.V594L		NM_018219.2	NP_060689.2	Q9NVE4	CCD87_HUMAN	coiled-coil domain containing 87	594										central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						TAGTCATCCACAGACAAGGTG	0.468000													29	80					6.38683e-12	9.07569e-12	0.008361	1	0
DEFB126	81623	broad.mit.edu	37	20	126203	126203	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr20:126203C>A	ENST00000382398.3	+	2	466	c.206C>A	c.(205-207)cCt>cAt	p.P69H	DEFB126_ENST00000542572.1_Intron	NM_030931.2	NP_112193.1	Q9BYW3	DB126_HUMAN	defensin, beta 126	69					defense response to bacterium	extracellular region				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(1)	4		all_cancers(10;7.65e-05)|Lung NSC(37;0.0417)|all_epithelial(17;0.0676)|all_lung(30;0.0713)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.122)			GCTAATTATCCTGTTTTCTGT	0.428000													19	32					6.49762e-13	9.43686e-13	0.006122	1	0
PAX7	5081	broad.mit.edu	37	1	19018324	19018324	+	Silent	SNP	G	G	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr1:19018324G>C	ENST00000420770.2	+	5	746	c.663G>C	c.(661-663)cgG>cgC	p.R221R	PAX7_ENST00000400661.3_Silent_p.R219R|PAX7_ENST00000375375.3_Silent_p.R221R	NM_001135254.1	NP_001128726.1	P23759	PAX7_HUMAN	paired box 7	221					anti-apoptosis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		PAX7/FOXO1(197)	breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)	31		Colorectal(325;3.46e-05)|all_lung(284;0.000439)|Renal(390;0.000518)|Lung NSC(340;0.000543)|Breast(348;0.00093)|Ovarian(437;0.00768)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00609)|BRCA - Breast invasive adenocarcinoma(304;4.71e-05)|Kidney(64;0.000279)|KIRC - Kidney renal clear cell carcinoma(64;0.00371)|STAD - Stomach adenocarcinoma(196;0.00658)|READ - Rectum adenocarcinoma(331;0.0576)		GACGCAGTCGGACCACATTCA	0.637000			T	FOXO1A	alveolar rhabdomyosarcoma								7	11					0	0	0.001984	0	0
ZNF222	7673	broad.mit.edu	37	19	44536757	44536757	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr19:44536757G>C	ENST00000187879.8	+	4	1092	c.930G>C	c.(928-930)caG>caC	p.Q310H	ZNF223_ENST00000591793.1_Intron|ZNF222_ENST00000391960.3_Missense_Mutation_p.Q350H	NM_013360.2	NP_037492.2	Q9UK12	ZN222_HUMAN	zinc finger protein 222	310					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(7)|lung(6)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20		Prostate(69;0.0435)				ATATGGGACAGAAACCATATA	0.393000													13	190					0	0	0.001855	0	0
TMEM66	51669	broad.mit.edu	37	8	29924381	29924381	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr8:29924381C>A	ENST00000256255.6	-	4	1011	c.754G>T	c.(754-756)Gga>Tga	p.G252*	TMEM66_ENST00000536273.1_Nonsense_Mutation_p.G80*|TMEM66_ENST00000545648.1_Nonsense_Mutation_p.G80*	NM_016127.4	NP_057211.4	Q96BY9	TMM66_HUMAN	transmembrane protein 66	252						integral to membrane				endometrium(2)|large_intestine(1)|lung(11)	14				KIRC - Kidney renal clear cell carcinoma(542;0.0993)|Kidney(114;0.119)		CCTTGTTGTCCTGTAAAAGCA	0.398000													32	55					1.22384e-17	2.01148e-17	0.002836	1	0
MYCBP2	23077	broad.mit.edu	37	13	77671869	77671869	+	Silent	SNP	G	G	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr13:77671869G>C	ENST00000407578.2	-	56	9686	c.9420C>G	c.(9418-9420)acC>acG	p.T3140T	MYCBP2-AS1_ENST00000593933.1_RNA|MYCBP2_ENST00000357337.6_Silent_p.T3102T|MYCBP2_ENST00000544440.2_Silent_p.T3102T	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	3102					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		TTTCAAAAGTGGTCTCGGTTT	0.388000													15	59					0	0	0.003163	0	0
GPRIN3	285513	broad.mit.edu	37	4	90169436	90169436	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr4:90169436G>A	ENST00000333209.3	-	2	2344	c.1826C>T	c.(1825-1827)tCt>tTt	p.S609F		NM_198281.2	NP_938022.2	Q6ZVF9	GRIN3_HUMAN	GPRIN family member 3	609										breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|prostate(2)|skin(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)		CATGGGATCAGATGGCAGGCT	0.582000													26	58					0	0	0.009535	0	0
FLG	2312	broad.mit.edu	37	1	152280800	152280800	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr1:152280800T>A	ENST00000368799.1	-	3	6597	c.6562A>T	c.(6562-6564)Agt>Tgt	p.S2188C	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2188	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGCTTGCACTTCTGGATCCT	0.532000									Ichthyosis				63	450					0	0	0.003610	0	0
ZEB2	9839	broad.mit.edu	37	2	145157512	145157512	+	Silent	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr2:145157512G>A	ENST00000558170.2	-	8	2426	c.1242C>T	c.(1240-1242)ccC>ccT	p.P414P	ZEB2_ENST00000409487.3_Silent_p.P414P|ZEB2_ENST00000303660.4_Silent_p.P414P|ZEB2_ENST00000539609.3_Silent_p.P390P	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	414						cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		CATTCATAAAGGGACTAGTGC	0.453000													10	45					0	0	0.006214	0	0
CHI3L1	1116	broad.mit.edu	37	1	203149636	203149636	+	Missense_Mutation	SNP	G	G	A	rs138989209		TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr1:203149636G>A	ENST00000255409.3	-	8	981	c.856C>T	c.(856-858)Cgg>Tgg	p.R286W		NM_001276.2	NP_001267.2	P36222	CH3L1_HUMAN	chitinase 3-like 1 (cartilage glycoprotein-39)	286					chitin catabolic process	extracellular space|proteinaceous extracellular matrix	cation binding|chitinase activity|extracellular matrix structural constituent|sugar binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|skin(1)	18						TTGGTGAACCGGCCTGGAATT	0.582000													13	24					0	0	0.003163	0	0
AHCTF1	25909	broad.mit.edu	37	1	247013073	247013073	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr1:247013073C>T	ENST00000366508.1	-	33	6476	c.6340G>A	c.(6340-6342)Gag>Aag	p.E2114K	AHCTF1_ENST00000470300.1_5'UTR|AHCTF1_ENST00000326225.3_Missense_Mutation_p.E2088K|AHCTF1_ENST00000391829.2_Missense_Mutation_p.E2079K			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	2079	Necessary for nuclear localization (By similarity).				cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport	condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm	DNA binding			NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			TCTTCCTGCTCATTTGTTTCT	0.433000													19	50					0	0	0.002299	0	0
KNSTRN	90417	broad.mit.edu	37	15	40675101	40675101	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr15:40675101G>A	ENST00000416151.2	+	1	180	c.65G>A	c.(64-66)tGc>tAc	p.C22Y	KNSTRN_ENST00000448395.2_Missense_Mutation_p.C22Y|KNSTRN_ENST00000249776.8_Missense_Mutation_p.C22Y	NM_001142761.1	NP_001136233.1			kinetochore-localized astrin/SPAG5 binding protein																		TCTACAGAGTGCGATTCCCAC	0.572000													10	28					0	0	0.006214	0	0
SPATA2	9825	broad.mit.edu	37	20	48522819	48522819	+	Silent	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr20:48522819G>A	ENST00000422556.1	-	3	1249	c.900C>T	c.(898-900)acC>acT	p.T300T	SPATA2_ENST00000289431.5_Silent_p.T300T|SPATA2_ENST00000543716.1_Silent_p.T163T	NM_001135773.1	NP_001129245.1	Q9UM82	SPAT2_HUMAN	spermatogenesis associated 2	300					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm|nucleus				central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	20	Hepatocellular(150;0.133)		BRCA - Breast invasive adenocarcinoma(9;4.03e-06)			AGCTGGCCATGGTCAGCAGCG	0.652000													52	61					0	0	0.003610	0	0
C18orf25	147339	broad.mit.edu	37	18	43820131	43820131	+	Silent	SNP	A	A	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr18:43820131A>G	ENST00000282059.6	+	3	1250	c.876A>G	c.(874-876)ctA>ctG	p.L292L	C18orf25_ENST00000321319.6_Intron	NM_145055.3	NP_659492.1	Q96B23	CR025_HUMAN	chromosome 18 open reading frame 25	292										central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)	11						GCGGGCTTCTAGAGGAGCTGA	0.522000													18	20					0	0	0.006122	0	0
CUX2	23316	broad.mit.edu	37	12	111746128	111746128	+	Silent	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr12:111746128C>T	ENST00000261726.6	+	13	1303	c.1149C>T	c.(1147-1149)agC>agT	p.S383S		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	383						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						GCACCTGCAGCCTCCCCCAGG	0.647000													48	89					0	0	0.003610	0	0
PPP1R10	5514	broad.mit.edu	37	6	30570015	30570015	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr6:30570015C>A	ENST00000376511.2	-	19	2963	c.2411G>T	c.(2410-2412)gGc>gTc	p.G804V		NM_002714.3	NP_002705.2	Q96QC0	PP1RA_HUMAN	protein phosphatase 1, regulatory subunit 10	804	Gly-rich.				protein import into nucleus|transcription, DNA-dependent	PTW/PP1 phosphatase complex	DNA binding|protein phosphatase inhibitor activity|RNA binding|zinc ion binding			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1)	25						GATGCCACCGCCAGGGCCTTC	0.687000													122	69					5.49952e-60	1.07612e-59	0.003610	1	0
STARD3	10948	broad.mit.edu	37	17	37818598	37818598	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr17:37818598G>T	ENST00000580611.1	+	13	1286	c.1156G>T	c.(1156-1158)Gtg>Ttg	p.V386L	STARD3_ENST00000336308.5_Splice_Site|STARD3_ENST00000394250.4_Splice_Site|STARD3_ENST00000544210.2_Splice_Site			Q14849	STAR3_HUMAN	StAR-related lipid transfer (START) domain containing 3	0	START.				cholesterol metabolic process|mitochondrial transport|steroid biosynthetic process	integral to membrane|late endosome membrane	cholesterol binding|cholesterol transporter activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|prostate(2)|stomach(1)	14	Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;1.04e-44)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			AGATCTCAAGGTGGGGTGCTG	0.592000													3	12					0.00024832	0.000271987	0.009096	1	0
VAV2	7410	broad.mit.edu	37	9	136656922	136656922	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr9:136656922T>A	ENST00000371851.1	-	12	1481	c.1156A>T	c.(1156-1158)Agt>Tgt	p.S386C	VAV2_ENST00000406606.3_Missense_Mutation_p.S386C|VAV2_ENST00000371850.3_Missense_Mutation_p.S391C			P52735	VAV2_HUMAN	vav 2 guanine nucleotide exchange factor	391					angiogenesis|apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	metal ion binding|Rho guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1)	35				OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06)		TCTATAGAACTCTGAAATTCG	0.463000													39	24					0	0	0.009718	0	0
TRMT1L	81627	broad.mit.edu	37	1	185089601	185089601	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr1:185089601C>A	ENST00000367506.5	-	14	2131	c.1863G>T	c.(1861-1863)aaG>aaT	p.K621N	TRMT1L_ENST00000465827.1_5'UTR|TRMT1L_ENST00000367504.3_3'UTR	NM_001202423.1|NM_030934.4	NP_001189352.1|NP_112196.3	Q7Z2T5	TRM1L_HUMAN	tRNA methyltransferase 1 homolog (S. cerevisiae)-like	621						intracellular	RNA binding|tRNA (guanine-N2-)-methyltransferase activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	21						TCTTTTGCTTCTTGCCTAAAT	0.338000													13	39					0.00010058	0.000111516	0.001368	1	0
NR5A2	2494	broad.mit.edu	37	1	200012940	200012940	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr1:200012940G>C	ENST00000367362.3	+	3	487	c.241G>C	c.(241-243)Gat>Cat	p.D81H	NR5A2_ENST00000544748.1_Missense_Mutation_p.D9H|NR5A2_ENST00000236914.3_Missense_Mutation_p.D35H	NM_001276464.1|NM_205860.1	NP_001263393.1|NP_995582.1	O00482	NR5A2_HUMAN	nuclear receptor subfamily 5, group A, member 2	81					embryo development|positive regulation of viral genome replication|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	lipid binding|protein binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31	Prostate(682;0.19)					CTATGATGAAGATCTGGAAGA	0.388000													13	16					0	0	0.002450	0	0
PLCXD2	257068	broad.mit.edu	37	3	111564672	111564672	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr3:111564672G>A	ENST00000393934.3	+	4	1441	c.871G>A	c.(871-873)Gca>Aca	p.A291T	PHLDB2_ENST00000393923.3_5'UTR|PLCXD2_ENST00000477665.1_3'UTR	NM_153268.3	NP_695000.1	Q0VAA5	PLCX2_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 2	0					intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity			endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)	17						GTGCAGGCTGGCACTGATCCC	0.463000													20	74					0	0	0.007413	0	0
F8	2157	broad.mit.edu	37	X	154157794	154157794	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chrX:154157794G>T	ENST00000360256.4	-	14	4471	c.4271C>A	c.(4270-4272)aCc>aAc	p.T1424N		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	1424	B.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	TAGGACCCTGGTCAGATATAT	0.418000													44	74					6.07928e-31	1.14769e-30	0.009718	1	0
SLC22A7	10864	broad.mit.edu	37	6	43271882	43271882	+	Missense_Mutation	SNP	T	T	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr6:43271882T>C	ENST00000372585.5	+	10	1587	c.1492T>C	c.(1492-1494)Tat>Cat	p.Y498H	SLC22A7_ENST00000372574.3_Missense_Mutation_p.Y496H|SLC22A7_ENST00000372589.3_Missense_Mutation_p.Y496H	NM_153320.2	NP_696961.2	Q9Y694	S22A7_HUMAN	solute carrier family 22 (organic anion transporter), member 7	498						basolateral plasma membrane|integral to plasma membrane|membrane fraction	anion:anion antiporter activity|sodium-independent organic anion transmembrane transporter activity			NS(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(3)	26			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305)			CAAGCTTACTTATGGGGGGAT	0.662000													11	245					0	0	0.001368	0	0
TNFRSF11A	8792	broad.mit.edu	37	18	60036668	60036668	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr18:60036668G>T	ENST00000586569.1	+	9	1556	c.1518G>T	c.(1516-1518)agG>agT	p.R506S	TNFRSF11A_ENST00000269485.7_Intron	NM_003839.2	NP_003830.1	Q9Y6Q6	TNR11_HUMAN	tumor necrosis factor receptor superfamily, member 11a, NFKB activator	506					adaptive immune response|cell-cell signaling|circadian temperature homeostasis|monocyte chemotaxis|osteoclast differentiation|positive regulation of cell proliferation|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling|positive regulation of fever generation by positive regulation of prostaglandin secretion|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|response to interleukin-1|response to lipopolysaccharide	external side of plasma membrane|integral to membrane	metal ion binding|tumor necrosis factor receptor activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(13)|skin(3)|upper_aerodigestive_tract(1)	29		Colorectal(73;0.188)				GCTCAGCGAGGGCAGGTGCCG	0.627000													13	30					1.49906e-05	1.71456e-05	0.002450	1	0
ABCA12	26154	broad.mit.edu	37	2	215876849	215876849	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr2:215876849G>T	ENST00000272895.7	-	16	2186	c.1967C>A	c.(1966-1968)cCg>cAg	p.P656Q	ABCA12_ENST00000389661.4_Missense_Mutation_p.P338Q	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	656					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		ATCTTTCCTCGGGAAAAACAC	0.388000													28	86					2.12542e-12	3.05925e-12	0.006320	1	0
MOXD1	26002	broad.mit.edu	37	6	132695848	132695848	+	Silent	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr6:132695848G>T	ENST00000367963.3	-	2	451	c.333C>A	c.(331-333)gcC>gcA	p.A111A	MOXD1_ENST00000336749.3_Silent_p.A43A	NM_015529.2	NP_056344.2	Q6UVY6	MOXD1_HUMAN	monooxygenase, DBH-like 1	111	DOMON.				catecholamine metabolic process	endoplasmic reticulum membrane|integral to membrane	copper ion binding|dopamine beta-monooxygenase activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(3)|skin(1)	37	Breast(56;0.0495)			OV - Ovarian serous cystadenocarcinoma(155;0.0132)|GBM - Glioblastoma multiforme(226;0.0191)		TATTTTCCATGGCATATTCTA	0.338000													10	58					2.17888e-05	2.47646e-05	0.006214	1	0
RGPD3	653489	broad.mit.edu	37	2	107073431	107073431	+	Missense_Mutation	SNP	A	A	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr2:107073431A>T	ENST00000409886.3	-	4	488	c.401T>A	c.(400-402)cTa>cAa	p.L134Q	RGPD3_ENST00000304514.7_Missense_Mutation_p.L134Q	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	134					intracellular transport		binding			breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						GTTTACCTTTAGTTTATAAAT	0.338000													57	69					0	0	0.003610	0	0
BPIFC	254240	broad.mit.edu	37	22	32841872	32841872	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr22:32841872G>T	ENST00000397452.1	-	5	596	c.486C>A	c.(484-486)taC>taA	p.Y162*	BPIFC_ENST00000300399.3_Nonsense_Mutation_p.Y162*|BPIFC_ENST00000534972.1_Intron|BPIFC_ENST00000432451.2_5'UTR			Q8NFQ6	BPIL2_HUMAN	BPI fold containing family C	162						extracellular region	lipopolysaccharide binding|phospholipid binding										TCAGTTGGGCGTAGCAATCTT	0.522000													6	44					0.00116845	0.00125327	0.001168	1	0
GALNT10	55568	broad.mit.edu	37	5	153755919	153755919	+	Silent	SNP	G	G	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr5:153755919G>C	ENST00000297107.6	+	5	788	c.651G>C	c.(649-651)ctG>ctC	p.L217L	GALNT10_ENST00000519544.1_3'UTR|GALNT10_ENST00000425427.2_Silent_p.L217L|SAP30L-AS1_ENST00000519727.1_RNA|GALNT10_ENST00000377661.2_Intron	NM_198321.3	NP_938080.1	Q86SR1	GLT10_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 10 (GalNAc-T10)	217	Catalytic subdomain A.					Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.L217L(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	32	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21)	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)			GGGAAGGGCTGATAAGGACCC	0.522000													12	40					0	0	0.000978	0	0
NTRK3	4916	broad.mit.edu	37	15	88679765	88679765	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr15:88679765C>A	ENST00000394480.1	-	8	1019	c.698G>T	c.(697-699)gGc>gTc	p.G233V	NTRK3_ENST00000360948.2_Missense_Mutation_p.G233V|NTRK3_ENST00000357724.2_Missense_Mutation_p.G233V|NTRK3_ENST00000317501.3_Missense_Mutation_p.G233V|NTRK3_ENST00000558676.1_Missense_Mutation_p.G233V|NTRK3_ENST00000355254.2_Missense_Mutation_p.G233V|NTRK3_ENST00000557856.1_Missense_Mutation_p.G233V|NTRK3_ENST00000542733.2_Missense_Mutation_p.G135V|NTRK3_ENST00000540489.2_Missense_Mutation_p.G233V	NM_001243101.1|NM_002530.3	NP_001230030.1|NP_002521.2	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	233	Ig-like C2-type 1.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity		ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			TGATCCAGAGCCATTGCAAGT	0.562000			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)			19	6					0.00887093	0.00926776	0.008871	1	0
TMEM68	137695	broad.mit.edu	37	8	56675394	56675394	+	Missense_Mutation	SNP	T	T	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr8:56675394T>G	ENST00000434581.2	-	3	324	c.125A>C	c.(124-126)aAc>aCc	p.N42T	TMEM68_ENST00000523073.1_Intron|TMEM68_ENST00000334667.2_Missense_Mutation_p.N42T|TMEM68_ENST00000519784.1_Intron|TMEM68_ENST00000522576.1_Missense_Mutation_p.N42T|TMEM68_ENST00000521229.1_Missense_Mutation_p.N42T			Q96MH6	TMM68_HUMAN	transmembrane protein 68	42						integral to membrane	acyltransferase activity			NS(1)|kidney(1)|lung(2)|ovary(1)|skin(1)	6			Epithelial(17;0.000361)|all cancers(17;0.00326)			CAAGAGATAGTTTGCAAAATT	0.348000													81	189					0	0	0.003610	0	0
PPFIBP1	8496	broad.mit.edu	37	12	27787932	27787932	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr12:27787932G>T	ENST00000318304.8	+	4	437	c.154G>T	c.(154-156)Gtg>Ttg	p.V52L	PPFIBP1_ENST00000228425.6_Missense_Mutation_p.V52L|PPFIBP1_ENST00000537927.1_Intron|PPFIBP1_ENST00000545334.1_Missense_Mutation_p.V52L|PPFIBP1_ENST00000542629.1_Missense_Mutation_p.V52L|PPFIBP1_ENST00000535047.1_Missense_Mutation_p.V52L	NM_001198916.1|NM_177444.2	NP_001185845.1|NP_803193.2	Q86W92	LIPB1_HUMAN	PTPRF interacting protein, binding protein 1 (liprin beta 1)	52					cell adhesion	plasma membrane	protein binding		PPFIBP1/ALK(3)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(13)|prostate(2)|skin(1)	32	Lung SC(9;0.0873)					TCTGCACCTTGTGGAAGACCT	0.448000													27	61					3.73148e-12	5.34439e-12	0.007291	1	0
LRRC37A5P	652972	broad.mit.edu	37	9	114371522	114371522	+	RNA	SNP	T	T	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr9:114371522T>A	ENST00000374304.1	-	0	277																											CCATAGCTGCTGGTTTAGCTG	0.493000													45	33					0	0	0.003610	0	0
FBL	2091	broad.mit.edu	37	19	40331129	40331129	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr19:40331129G>C	ENST00000221801.3	-	3	321	c.208C>G	c.(208-210)Cgg>Ggg	p.R70G		NM_001436.3	NP_001427.2	P22087	FBRL_HUMAN	fibrillarin	70	DMA/Gly-rich.				rRNA processing|tRNA processing	box C/D snoRNP complex|Cajal body	methyltransferase activity|protein binding|RNA binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)	9	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)	Renal(1328;0.000518)|Hepatocellular(1079;0.0893)	Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)	GBM - Glioblastoma multiforme(1328;0.000826)|STAD - Stomach adenocarcinoma(1328;0.138)		CCACGACCCCGGTTGCCACCA	0.592000													70	157					0	0	0.003610	0	0
NNT	23530	broad.mit.edu	37	5	43645480	43645480	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr5:43645480G>T	ENST00000264663.5	+	10	1533	c.1312G>T	c.(1312-1314)Gct>Tct	p.A438S	NNT_ENST00000344920.4_Missense_Mutation_p.A438S|NNT_ENST00000512996.2_Missense_Mutation_p.A307S	NM_012343.3	NP_036475.3	Q13423	NNTM_HUMAN	nicotinamide nucleotide transhydrogenase	438					tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain	NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(6;2.58e-06)				NADH(DB00157)	GATTTTCCCAGCTCCCACACC	0.373000													26	43					3.73988e-18	6.21026e-18	0.006320	1	0
SMARCA1	6594	broad.mit.edu	37	X	128633753	128633753	+	Missense_Mutation	SNP	C	C	G	rs35189334		TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chrX:128633753C>G	ENST00000371122.4	-	10	1362	c.1233G>C	c.(1231-1233)aaG>aaC	p.K411N	SMARCA1_ENST00000371123.1_Missense_Mutation_p.K411N|SMARCA1_ENST00000371121.3_Missense_Mutation_p.K411N	NM_003069.3	NP_003060.2	P28370	SMCA1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1	411					ATP-dependent chromatin remodeling|brain development|neuron differentiation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	NURF complex	ATP binding|DNA binding|helicase activity|nucleosome binding|protein binding			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1)	45						TCTTTATTTCCTTTTTAGGTG	0.299000													44	71					0	0	0.003610	0	0
CTNNA2	1496	broad.mit.edu	37	2	80816542	80816542	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr2:80816542C>A	ENST00000466387.1	+	19	2845	c.2121C>A	c.(2119-2121)agC>agA	p.S707R	AC008067.2_ENST00000430876.1_RNA|CTNNA2_ENST00000361291.4_Missense_Mutation_p.S741R|CTNNA2_ENST00000402739.4_Missense_Mutation_p.S707R|AC008067.2_ENST00000596887.1_RNA|CTNNA2_ENST00000540488.1_Missense_Mutation_p.S707R|CTNNA2_ENST00000496558.1_Missense_Mutation_p.S707R|CTNNA2_ENST00000541047.1_Missense_Mutation_p.S707R|AC008067.2_ENST00000595478.1_RNA|CTNNA2_ENST00000343114.3_Missense_Mutation_p.S386R			P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	707					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton	p.G708G(1)|p.S707R(1)		breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						GGGACGACAGCGGCAATGATA	0.478000													18	58					3.32936e-07	4.041e-07	0.006122	1	0
EXOSC7	23016	broad.mit.edu	37	3	45052814	45052814	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr3:45052814G>T	ENST00000265564.7	+	8	907	c.859G>T	c.(859-861)Gtt>Ttt	p.V287F	CLEC3B_ENST00000490386.1_Intron|EXOSC7_ENST00000461361.1_3'UTR	NM_015004.3	NP_055819.2	Q15024	EXOS7_HUMAN	exosome component 7	287					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA processing	cytosol|exosome (RNase complex)|nucleolus	3'-5'-exoribonuclease activity|protein binding|RNA binding			endometrium(3)|large_intestine(1)|lung(3)	7				BRCA - Breast invasive adenocarcinoma(193;0.00911)|KIRC - Kidney renal clear cell carcinoma(197;0.0509)|Kidney(197;0.064)		GAGACAGAAAGTTGGATTCCT	0.468000													10	4					2.74318e-10	3.7088e-10	0.006214	1	0
TFAP2B	7021	broad.mit.edu	37	6	50786601	50786601	+	Translation_Start_Site	SNP	A	A	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr6:50786601A>T	ENST00000263046.4	+	0	163				TFAP2B_ENST00000393655.3_De_novo_Start_OutOfFrame			Q92481	AP2B_HUMAN	transcription factor AP-2 beta (activating enhancer binding protein 2 beta)						nervous system development|positive regulation of transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)	40	Lung NSC(77;0.156)					TGCTCCTCACATGAATGCACT	0.507000													20	39					0	0	0.001882	0	0
PIK3AP1	118788	broad.mit.edu	37	10	98411027	98411027	+	Silent	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr10:98411027C>T	ENST00000339364.5	-	6	1085	c.966G>A	c.(964-966)ctG>ctA	p.L322L	PIK3AP1_ENST00000468783.1_5'UTR|PIK3AP1_ENST00000371110.2_Silent_p.L144L	NM_152309.2	NP_689522.2	Q6ZUJ8	BCAP_HUMAN	phosphoinositide-3-kinase adaptor protein 1	322						cytoplasm|plasma membrane				NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(27)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	52		Colorectal(252;0.0442)		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)		CTTCTTCTTCCAGCTGGTTGA	0.468000													13	23					0	0	0.004007	0	0
ESYT1	23344	broad.mit.edu	37	12	56531325	56531325	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr12:56531325G>A	ENST00000394048.5	+	18	2245	c.1981G>A	c.(1981-1983)Gcc>Acc	p.A661T	ESYT1_ENST00000267113.4_Missense_Mutation_p.A671T|ESYT1_ENST00000541590.1_Missense_Mutation_p.A671T	NM_001184796.1|NM_015292.2	NP_001171725.1|NP_056107.1	Q9BSJ8	ESYT1_HUMAN	extended synaptotagmin-like protein 1	661	C2 3.					integral to membrane				breast(2)|endometrium(2)|large_intestine(4)|lung(10)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	28						GGACCTGATTGCCAAAGACCG	0.547000													56	244					0	0	0.003610	0	0
RRBP1	6238	broad.mit.edu	37	20	17600359	17600359	+	Silent	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr20:17600359C>T	ENST00000377813.1	-	19	3897	c.3594G>A	c.(3592-3594)acG>acA	p.T1198T	RRBP1_ENST00000468428.1_5'UTR|RRBP1_ENST00000246043.4_Silent_p.T1198T|RRBP1_ENST00000455029.2_Silent_p.T539T|RRBP1_ENST00000377807.2_Silent_p.T765T|RRBP1_ENST00000360807.4_Silent_p.T765T			Q9P2E9	RRBP1_HUMAN	ribosome binding protein 1	1198					protein transport|translation|transmembrane transport	integral to endoplasmic reticulum membrane|ribosome	receptor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(6)	28						CCAAATGCGACGTGTGCTCCC	0.652000													10	25					0	0	0.008291	0	0
OR4K17	390436	broad.mit.edu	37	14	20586176	20586176	+	Missense_Mutation	SNP	T	T	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr14:20586176T>G	ENST00000315543.4	+	1	611	c.611T>G	c.(610-612)gTg>gGg	p.V204G		NM_001004715.1	NP_001004715.1	Q8NGC6	OR4KH_HUMAN	olfactory receptor, family 4, subfamily K, member 17	176					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|skin(3)	21	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.77e-06)	GBM - Glioblastoma multiforme(265;0.0144)		GGTCCCAATGTGGTAGACAGC	0.433000													32	62					0	0	0.004289	0	0
TMEM63B	55362	broad.mit.edu	37	6	44115157	44115157	+	Missense_Mutation	SNP	A	A	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr6:44115157A>T	ENST00000259746.9	+	12	1090	c.907A>T	c.(907-909)Agc>Tgc	p.S303C	TMEM63B_ENST00000323267.6_Missense_Mutation_p.S303C			Q5T3F8	TM63B_HUMAN	transmembrane protein 63B	303						integral to membrane	nucleotide binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(2)|prostate(2)|stomach(4)	35	all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0215)			AAACCTCCAGAGCAAGGAGAA	0.612000													147	29					0	0	0.003610	0	0
LRP2	4036	broad.mit.edu	37	2	170063588	170063588	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr2:170063588C>A	ENST00000263816.3	-	39	6927	c.6642G>T	c.(6640-6642)aaG>aaT	p.K2214N		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2214					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	AACGCTCAATCTTTGGTCTCT	0.502000													66	140					3.13296e-38	6.03262e-38	0.003610	1	0
MYLK4	340156	broad.mit.edu	37	6	2679643	2679643	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr6:2679643C>G	ENST00000268446.5	-	8	1054	c.758G>C	c.(757-759)aGa>aCa	p.R253T	MYLK4_ENST00000274643.7_Splice_Site			Q86YV6	MYLK4_HUMAN	myosin light chain kinase family, member 4	253	Protein kinase.						ATP binding|protein serine/threonine kinase activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(2)|skin(1)	23	Ovarian(93;0.0412)	all_hematologic(90;0.0897)				GGGTTTGTATCTGCAATTTAA	0.413000													35	251					0	0	0.009718	0	0
NDST4	64579	broad.mit.edu	37	4	115856447	115856447	+	Missense_Mutation	SNP	A	A	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr4:115856447A>G	ENST00000264363.2	-	6	2129	c.1451T>C	c.(1450-1452)tTc>tCc	p.F484S		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	484	Heparan sulfate N-deacetylase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		TTCTTTGTAGAAAATAGTGTG	0.403000													12	26					0	0	0.001368	0	0
GIGYF2	26058	broad.mit.edu	37	2	233626121	233626121	+	Silent	SNP	T	T	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr2:233626121T>C	ENST00000373566.3	+	8	704	c.507T>C	c.(505-507)ttT>ttC	p.F169F	GIGYF2_ENST00000409451.3_Silent_p.F169F|AC064852.4_ENST00000427571.1_RNA|GIGYF2_ENST00000409547.1_Silent_p.F169F|GIGYF2_ENST00000409196.3_Silent_p.F169F|GIGYF2_ENST00000373563.4_Silent_p.F169F|GIGYF2_ENST00000409480.1_Silent_p.F169F			Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2	169	Arg-rich.				cell death		protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		ACAGACGTTTTGAAAAACCAG	0.353000													21	34					0	0	0.010504	0	0
WDR61	80349	broad.mit.edu	37	15	78577629	78577629	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr15:78577629G>A	ENST00000267973.2	-	10	1073	c.802C>T	c.(802-804)Cac>Tac	p.H268Y	WDR61_ENST00000559332.1_5'UTR|WDR61_ENST00000558459.1_Missense_Mutation_p.H175Y|WDR61_ENST00000558311.1_Missense_Mutation_p.H268Y			Q9GZS3	WDR61_HUMAN	WD repeat domain 61	268							protein binding			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9						AAGAAGGTGTGAACACAAGTC	0.373000													13	31					0	0	0.006122	0	0
MAP3K15	389840	broad.mit.edu	37	X	19392723	19392723	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chrX:19392723C>T	ENST00000338883.4	-	20	2644	c.2645G>A	c.(2644-2646)cGa>cAa	p.R882Q	MAP3K15_ENST00000359173.3_Missense_Mutation_p.R317Q|MAP3K15_ENST00000469203.2_Missense_Mutation_p.R714Q|MAP3K15_ENST00000518578.1_5'UTR	NM_001001671.3	NP_001001671.3	Q6ZN16	M3K15_HUMAN	mitogen-activated protein kinase kinase kinase 15	882	Protein kinase.						ATP binding|MAP kinase kinase kinase activity|metal ion binding			NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	Hepatocellular(33;0.183)					AATGAAGGCTCGGGCTTCAGC	0.527000													20	33					0	0	0.008871	0	0
RP1L1	94137	broad.mit.edu	37	8	10469891	10469891	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr8:10469891C>A	ENST00000382483.3	-	4	1940	c.1717G>T	c.(1717-1719)Gac>Tac	p.D573Y		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	573					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		GAAGCGGGGTCGCCTCCCTCG	0.662000													28	46					1.13719e-10	1.55345e-10	0.008361	1	0
OR5M11	219487	broad.mit.edu	37	11	56310563	56310563	+	Silent	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr11:56310563C>A	ENST00000528616.2	-	1	194	c.171G>T	c.(169-171)acG>acT	p.T57T		NM_001005245.1	NP_001005245.1	Q96RB7	OR5MB_HUMAN	olfactory receptor, family 5, subfamily M, member 11	57					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)	18						AGTACATGGGCGTGTGAAGGC	0.458000													40	70					3.43241e-23	6.16642e-23	0.009718	1	0
COL20A1	57642	broad.mit.edu	37	20	61939938	61939938	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr20:61939938G>T	ENST00000422202.1	+	7	909	c.841G>T	c.(841-843)Gct>Tct	p.A281S	COL20A1_ENST00000326996.6_Missense_Mutation_p.A274S|COL20A1_ENST00000358894.6_Missense_Mutation_p.A274S|COL20A1_ENST00000435874.1_Missense_Mutation_p.A281S			Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	274	VWFA.				cell adhesion	collagen|extracellular space	structural molecule activity			NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					GCAGCCGGCGGCTGGCCTCCG	0.647000													5	13					0.00116845	0.00125327	0.001168	1	0
E2F7	144455	broad.mit.edu	37	12	77421733	77421733	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr12:77421733C>A	ENST00000322886.7	-	11	2305	c.2070G>T	c.(2068-2070)aaG>aaT	p.K690N	E2F7_ENST00000416496.2_Missense_Mutation_p.K690N	NM_203394.2	NP_976328.2	Q96AV8	E2F7_HUMAN	E2F transcription factor 7	690					cell cycle	transcription factor complex	DNA binding|identical protein binding			central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(15)|lung(14)|ovary(3)|upper_aerodigestive_tract(2)	42						CTTTTGAAGGCTTTTCAACAT	0.433000													40	20					1.07121e-22	1.90788e-22	0.006999	1	0
ACSM5	54988	broad.mit.edu	37	16	20435317	20435317	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr16:20435317T>A	ENST00000331849.4	+	6	994	c.847T>A	c.(847-849)Ttc>Atc	p.F283I		NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5	283					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						CTGGACTCTCTTCTCTGCCTG	0.498000													15	104					0	0	0.003163	0	0
LILRP2	79166	broad.mit.edu	37	19	55220781	55220781	+	RNA	SNP	C	C	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr19:55220781C>G	ENST00000413439.1	+	0	808																											ATGTGGGACGCGTGAGCCCCA	0.602000													10	10					0	0	0.006214	0	0
CAPRIN1	4076	broad.mit.edu	37	11	34118027	34118027	+	Splice_Site	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr11:34118027G>T	ENST00000341394.4	+	16	1896	c.1705_splice	c.e16-1	p.V569_splice	CAPRIN1_ENST00000530820.1_Splice_Site_p.V569_splice|CAPRIN1_ENST00000533657.1_3'UTR|CAPRIN1_ENST00000532820.1_Splice_Site_p.V569_splice|CAPRIN1_ENST00000389645.3_Splice_Site_p.V569_splice|CAPRIN1_ENST00000529307.1_Splice_Site_p.V488_splice	NM_005898.4	NP_005889.3	Q14444	CAPR1_HUMAN	cell cycle associated protein 1	569					negative regulation of translation|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis	cytoplasmic mRNA processing body|cytosol|dendrite|integral to plasma membrane|stress granule	protein binding|RNA binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)	18		Acute lymphoblastic leukemia(5;0.00045)|all_hematologic(20;0.0016)				AAATTATAGTGGTTGGCACTT	0.428000													20	33					2.39187e-15	3.73215e-15	0.008871	1	0
SGIP1	84251	broad.mit.edu	37	1	67199493	67199493	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr1:67199493C>G	ENST00000371037.4	+	21	2038	c.1961C>G	c.(1960-1962)aCt>aGt	p.T654S	SGIP1_ENST00000371035.3_Missense_Mutation_p.T444S|SGIP1_ENST00000371039.1_Missense_Mutation_p.T457S|SGIP1_ENST00000237247.6_Missense_Mutation_p.T685S|SGIP1_ENST00000435165.2_Missense_Mutation_p.T159S|SGIP1_ENST00000371036.3_Missense_Mutation_p.T456S	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1	654					positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	microtubule binding|phospholipid binding|SH3 domain binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						AATTTGATGACTCACCTAAAG	0.358000													29	51					0	0	0.005443	0	0
SLC8A3	6547	broad.mit.edu	37	14	70515701	70515701	+	Nonsense_Mutation	SNP	G	G	T	rs149109491	byFrequency	TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr14:70515701G>T	ENST00000381269.2	-	7	2943	c.2190C>A	c.(2188-2190)taC>taA	p.Y730*	SLC8A3_ENST00000216568.7_Nonsense_Mutation_p.Y101*|SLC8A3_ENST00000394330.2_Nonsense_Mutation_p.Y87*|SLC8A3_ENST00000356921.2_Nonsense_Mutation_p.Y724*|SLC8A3_ENST00000357887.3_Nonsense_Mutation_p.Y728*|SLC8A3_ENST00000528359.1_Nonsense_Mutation_p.Y728*|SLC8A3_ENST00000533541.1_Nonsense_Mutation_p.Y87*|SLC8A3_ENST00000534137.1_Nonsense_Mutation_p.Y727*	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	730					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		AGTGCATGACGTAGTCAAAGC	0.572000													12	32					1.08611e-07	1.34879e-07	0.000978	1	0
NPAP1	23742	broad.mit.edu	37	15	24921181	24921181	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr15:24921181G>T	ENST00000329468.2	+	1	641	c.167G>T	c.(166-168)cGt>cTt	p.R56L		NM_018958.2	NP_061831.2			nuclear pore associated protein 1									p.R56L(1)									CGGAACGCCCGTCGCAGGCCT	0.751000													10	9					1.11149e-13	1.66609e-13	0.008291	1	0
PSME2	5721	broad.mit.edu	37	14	24614455	24614455	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr14:24614455C>A	ENST00000216802.5	-	5	898	c.259G>T	c.(259-261)Gaa>Taa	p.E87*	PSME2_ENST00000560410.1_Nonsense_Mutation_p.E76*|PSME2_ENST00000471700.2_5'UTR	NM_002818.2	NP_002809.2	Q9UL46	PSME2_HUMAN	proteasome (prosome, macropain) activator subunit 2 (PA28 beta)	87					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome activator complex				endometrium(1)|lung(3)|prostate(2)	6				GBM - Glioblastoma multiforme(265;0.00839)		CTCTTACCTTCTTTCTTCTCC	0.458000													15	74					1.5739e-10	2.14595e-10	0.004007	1	0
MYLK4	340156	broad.mit.edu	37	6	2679608	2679608	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr6:2679608C>T	ENST00000274643.7	-	9	1135	c.793G>A	c.(793-795)Gga>Aga	p.G265R	MYLK4_ENST00000268446.5_Missense_Mutation_p.G265R	NM_001012418.3	NP_001012418.2	Q86YV6	MYLK4_HUMAN	myosin light chain kinase family, member 4	265	Protein kinase.						ATP binding|protein serine/threonine kinase activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(2)|skin(1)	23	Ovarian(93;0.0412)	all_hematologic(90;0.0897)				TCTGGGGTTCCAAAGTTCACC	0.438000													31	307					0	0	0.003610	0	0
DDRGK1	65992	broad.mit.edu	37	20	3183950	3183950	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr20:3183950C>A	ENST00000354488.3	-	2	261	c.204G>T	c.(202-204)agG>agT	p.R68S	DDRGK1_ENST00000380201.2_Missense_Mutation_p.R68S	NM_023935.1	NP_076424.1	Q96HY6	DDRGK_HUMAN	DDRGK domain containing 1	68						endoplasmic reticulum	protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|skin(2)|urinary_tract(1)	7						TGCCCAGGTCCCTCCGGCGCC	0.697000													5	4					0.000602214	0.000651724	0.000602	1	0
RYR3	6263	broad.mit.edu	37	15	33878306	33878306	+	Silent	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr15:33878306C>A	ENST00000389232.4	+	16	1847	c.1777C>A	c.(1777-1779)Cgg>Agg	p.R593R	RYR3_ENST00000415757.3_Silent_p.R593R	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	593	B30.2/SPRY 1.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TAAGCACGGGCGGAATCACAA	0.473000													14	11					6.31663e-08	7.92589e-08	0.003163	1	0
C2orf53	339779	broad.mit.edu	37	2	27361043	27361043	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr2:27361043G>C	ENST00000335524.3	-	3	680	c.155C>G	c.(154-156)tCt>tGt	p.S52C		NM_178553.3	NP_848648.2	Q53SZ7	CB053_HUMAN	chromosome 2 open reading frame 53	52	Pro-rich.							p.S52C(1)		cervix(1)|endometrium(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTGAGTGGAAGAGAACGGTGG	0.582000													4	25					0	0	0.009096	0	0
TAB3	257397	broad.mit.edu	37	X	30849675	30849675	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chrX:30849675T>A	ENST00000378933.1	-	8	2185	c.2008A>T	c.(2008-2010)Aca>Tca	p.T670S	TAB3_ENST00000378932.2_Missense_Mutation_p.T642S|TAB3_ENST00000378930.3_Missense_Mutation_p.T670S|TAB3_ENST00000288422.2_Missense_Mutation_p.T670S	NM_152787.3	NP_690000.2	Q8N5C8	TAB3_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 3	670					activation of MAPK activity|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|skin(1)	27						GGACTTTGTGTGGAGCCAGTT	0.458000													8	22					0	0	0.004482	0	0
OR4C6	219432	broad.mit.edu	37	11	55433261	55433261	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr11:55433261G>T	ENST00000314259.3	+	1	648	c.619G>T	c.(619-621)Gcc>Tcc	p.A207S		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	207					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						GATGTGTGTGGCCATCTTTCT	0.488000													23	46					9.95505e-16	1.56514e-15	0.002299	1	0
ITPRIP	85450	broad.mit.edu	37	10	106074637	106074637	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr10:106074637G>T	ENST00000278071.2	-	3	1625	c.1173C>A	c.(1171-1173)ttC>ttA	p.F391L	ITPRIP_ENST00000337478.1_Missense_Mutation_p.F391L|ITPRIP_ENST00000358187.2_Missense_Mutation_p.F391L	NM_033397.2	NP_203755.1	Q8IWB1	IPRI_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein	391						plasma membrane				breast(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(9)|upper_aerodigestive_tract(1)	20						TCGTCCTGAGGAAGTGTCGCT	0.617000													15	23					2.48551e-13	3.66498e-13	0.004990	1	0
PLEK	5341	broad.mit.edu	37	2	68622925	68622925	+	Missense_Mutation	SNP	A	A	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr2:68622925A>C	ENST00000234313.7	+	9	1209	c.1030A>C	c.(1030-1032)Atg>Ctg	p.M344L		NM_002664.2	NP_002655.2	P08567	PLEK_HUMAN	pleckstrin	344	PH 2.				actin cytoskeleton reorganization|cortical actin cytoskeleton organization|hemopoietic progenitor cell differentiation|inhibition of phospholipase C activity involved in G-protein coupled receptor signaling pathway|integrin-mediated signaling pathway|negative regulation of calcium-mediated signaling|negative regulation of inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|platelet aggregation|positive regulation of actin filament bundle assembly|positive regulation of actin filament depolymerization|positive regulation of inositol-polyphosphate 5-phosphatase activity|positive regulation of integrin activation|positive regulation of platelet activation|protein kinase C signaling cascade|protein secretion by platelet|regulation of cell diameter|ruffle organization|thrombin receptor signaling pathway|vesicle docking involved in exocytosis	cytosol|extracellular region|membrane fraction|ruffle membrane|soluble fraction	phosphatidylinositol-3,4-bisphosphate binding|protein homodimerization activity|protein kinase C binding			autonomic_ganglia(1)|endometrium(3)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	24		Ovarian(717;0.0129)		STAD - Stomach adenocarcinoma(1183;0.00159)|READ - Rectum adenocarcinoma(193;0.0419)		AGCCATCCAGATGGCCTCCCG	0.542000													4	52					0	0	0.009096	0	0
OLFML2B	25903	broad.mit.edu	37	1	161989783	161989783	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr1:161989783G>T	ENST00000294794.3	-	2	787	c.364C>A	c.(364-366)Cca>Aca	p.P122T	OLFML2B_ENST00000367940.2_Missense_Mutation_p.P122T	NM_015441.1	NP_056256.1	Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B	122										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)			AGGGCCGATGGGGGTGCTACA	0.597000													18	41					2.94398e-08	3.73283e-08	0.007413	1	0
OR2T12	127064	broad.mit.edu	37	1	248458257	248458257	+	Silent	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr1:248458257G>T	ENST00000317996.1	-	1	623	c.624C>A	c.(622-624)ccC>ccA	p.P208P		NM_001004692.1	NP_001004692.1	Q8NG77	O2T12_HUMAN	olfactory receptor, family 2, subfamily T, member 12	208					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0201)			TGAGGGAAAAGGGGACCAGGA	0.547000													40	52					4.67007e-22	8.25672e-22	0.008740	1	0
SDS	10993	broad.mit.edu	37	12	113837397	113837397	+	Silent	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr12:113837397G>T	ENST00000257549.4	-	2	239	c.117C>A	c.(115-117)tcC>tcA	p.S39S		NM_006843.2	NP_006834.2	P20132	SDHL_HUMAN	serine dehydratase	39					gluconeogenesis|L-serine catabolic process|pyruvate biosynthetic process	cytoplasm	L-serine ammonia-lyase activity|L-threonine ammonia-lyase activity|protein homodimerization activity|pyridoxal phosphate binding			large_intestine(2)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(1)	11					L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	GGATCTTGAAGGAGCCGGAGG	0.627000													11	10					1.61879e-10	2.19888e-10	0.001368	1	0
MPRIP	23164	broad.mit.edu	37	17	17062136	17062136	+	Silent	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr17:17062136G>T	ENST00000395811.5	+	14	1955	c.1866G>T	c.(1864-1866)ctG>ctT	p.L622L	MPRIP_ENST00000341712.4_Silent_p.L622L|MPRIP_ENST00000395804.3_Silent_p.L622L|MPRIP_ENST00000444976.1_Silent_p.L584L	NM_015134.3|NM_201274.3	NP_055949.2|NP_958431.2	Q6WCQ1	MPRIP_HUMAN	myosin phosphatase Rho interacting protein	622	Interaction with RHOA.					cytoplasm|cytoskeleton	actin binding			biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						GCCCAGGGCTGCCTATGAGCG	0.647000													17	34					1.15088e-07	1.42433e-07	0.004007	1	0
LILRA1	11024	broad.mit.edu	37	19	55107848	55107848	+	Missense_Mutation	SNP	A	A	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr19:55107848A>T	ENST00000251372.3	+	7	1335	c.1153A>T	c.(1153-1155)Agt>Tgt	p.S385C	LILRB1_ENST00000396321.2_Intron|LILRA1_ENST00000453777.1_Intron|LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000448689.1_Intron|LILRA1_ENST00000473156.1_3'UTR	NM_006863.1	NP_006854.1	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1	385	Ig-like C2-type 4.				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		ATTCCCTATGAGTCCTGTGAC	0.567000													39	80					0	0	0.007835	0	0
UBR4	23352	broad.mit.edu	37	1	19511665	19511665	+	Silent	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr1:19511665C>A	ENST00000375267.2	-	15	1869	c.1866G>T	c.(1864-1866)cgG>cgT	p.R622R	UBR4_ENST00000375226.2_Silent_p.R622R|UBR4_ENST00000375254.3_Silent_p.R622R|UBR4_ENST00000375217.2_Silent_p.R622R			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	622	Pro-rich.				interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		GGCTTTTAACCCGAGGAGAGC	0.527000													58	138					1.69475e-38	3.26765e-38	0.003610	1	0
CXorf67	340602	broad.mit.edu	37	X	51150614	51150614	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chrX:51150614G>A	ENST00000342995.2	+	1	848	c.746G>A	c.(745-747)cGc>cAc	p.R249H						chromosome X open reading frame 67											breast(1)|endometrium(4)|large_intestine(1)|lung(11)|ovary(3)|prostate(1)	21						TTTCCACACCGCGCCACTCAT	0.677000													3	13					0	0	0.004672	0	0
SNHG14	104472715	broad.mit.edu	37	15	25339252	25339252	+	RNA	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr15:25339252G>T	ENST00000546682.1	+	0	1110				SNHG14_ENST00000553108.1_RNA|SNORD116-24_ENST00000384549.1_RNA|SNHG14_ENST00000549804.2_RNA	NR_003361.1																						ACTCTATACCGTCATCTTCGT	0.423000													21	98					6.36457e-07	7.62906e-07	0.003954	1	0
CAPN13	92291	broad.mit.edu	37	2	30974119	30974119	+	Splice_Site	SNP	T	T	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr2:30974119T>A	ENST00000295055.8	-	11	1264		c.e11-2		CAPN13_ENST00000534090.2_Splice_Site	NM_144575.2	NP_653176.2	Q6MZZ7	CAN13_HUMAN	calpain 13						proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)					GAGGTCCTCCTGCATCAGAAA	0.522000													18	15					0	0	0.010504	0	0
TUBB2B	347733	broad.mit.edu	37	6	3226399	3226399	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr6:3226399C>T	ENST00000259818.7	-	3	462	c.271G>A	c.(271-273)Gtg>Atg	p.V91M	TUBB2B_ENST00000473006.1_5'UTR	NM_178012.4	NP_821080.1	Q9BVA1	TBB2B_HUMAN	tubulin, beta 2B class IIb	91					'de novo' posttranslational protein folding|microtubule-based movement|neuron migration|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			kidney(2)|large_intestine(5)|lung(1)|prostate(1)|skin(1)	10	Ovarian(93;0.0386)	all_hematologic(90;0.108)				TCACCAAACACGAAATTGTCT	0.532000													27	29					0	0	0.009535	0	0
CDHR2	54825	broad.mit.edu	37	5	176002986	176002986	+	Missense_Mutation	SNP	G	G	C	rs144851381		TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr5:176002986G>C	ENST00000510636.1	+	12	1268	c.994G>C	c.(994-996)Gag>Cag	p.E332Q	CDHR2_ENST00000261944.5_Missense_Mutation_p.E332Q|CDHR2_ENST00000506348.1_Missense_Mutation_p.E332Q	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	332	Cadherin 3.				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						CTACGGGCAGGAGGCCAAGGT	0.577000													8	13					0	0	0.003080	0	0
MED13	9969	broad.mit.edu	37	17	60062082	60062082	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr17:60062082G>C	ENST00000397786.2	-	14	2697	c.2621C>G	c.(2620-2622)tCt>tGt	p.S874C		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	874					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						TCCTATACTAGAACTATTTCC	0.338000													8	59					0	0	0.004482	0	0
GABRQ	55879	broad.mit.edu	37	X	151814002	151814002	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chrX:151814002G>T	ENST00000370306.2	+	3	273	c.253G>T	c.(253-255)Gtg>Ttg	p.V85L		NM_018558.2	NP_061028.2	Q9UN88	GBRT_HUMAN	gamma-aminobutyric acid (GABA) A receptor, theta	85						cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|neurotransmitter transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	52	Acute lymphoblastic leukemia(192;6.56e-05)					CCCTGTGCCTGTGAGAATATC	0.443000													20	49					3.62473e-10	4.87789e-10	0.001882	1	0
PGR	5241	broad.mit.edu	37	11	100998878	100998878	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr11:100998878G>C	ENST00000325455.5	-	1	2377	c.924C>G	c.(922-924)atC>atG	p.I308M	PGR_ENST00000534013.1_Intron|PGR_ENST00000263463.5_Missense_Mutation_p.I308M	NM_000926.4|NM_001202474.1	NP_000917.3|NP_001189403.1	P06401	PRGR_HUMAN	progesterone receptor	308	Modulating, Pro-Rich.				cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)	TGAGAGGCAGGATAGGCACGT	0.687000													6	14					0	0	0.001984	0	0
RPTOR	57521	broad.mit.edu	37	17	78681641	78681641	+	Splice_Site	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr17:78681641G>T	ENST00000306801.3	+	4	711	c.348_splice	c.e4-1	p.A117_splice	RPTOR_ENST00000570891.1_Splice_Site_p.A117_splice|RPTOR_ENST00000544334.2_Splice_Site_p.A117_splice|RPTOR_ENST00000537330.1_5'UTR	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN	regulatory associated protein of MTOR, complex 1	117					cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of protein serine/threonine kinase activity|positive regulation of TOR signaling cascade|TOR signaling cascade	cytosol|lysosome|TORC1 complex	protein complex binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						CCTGCAACAGGCCCGGTACAA	0.512000													6	33					2.0095e-06	2.36181e-06	0.001984	1	0
E2F7	144455	broad.mit.edu	37	12	77449844	77449844	+	Missense_Mutation	SNP	A	A	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr12:77449844A>C	ENST00000322886.7	-	3	395	c.160T>G	c.(160-162)Tta>Gta	p.L54V	E2F7_ENST00000416496.2_Missense_Mutation_p.L54V	NM_203394.2	NP_976328.2	Q96AV8	E2F7_HUMAN	E2F transcription factor 7	54					cell cycle	transcription factor complex	DNA binding|identical protein binding			central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(15)|lung(14)|ovary(3)|upper_aerodigestive_tract(2)	42						TGCTTCGATAAATCAATTGGT	0.358000													28	40					0	0	0.006320	0	0
OAT	4942	broad.mit.edu	37	10	126100674	126100674	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr10:126100674C>A	ENST00000368845.5	-	2	159	c.67G>T	c.(67-69)Gct>Tct	p.A23S	OAT_ENST00000539214.1_Intron	NM_000274.3	NP_000265.1	P04181	OAT_HUMAN	ornithine aminotransferase	23					cellular amino acid biosynthetic process|visual perception	mitochondrial matrix	ornithine-oxo-acid transaminase activity|protein binding|pyridoxal phosphate binding			endometrium(2)|large_intestine(1)|lung(2)	5		all_lung(145;0.0271)|Lung NSC(174;0.0436)|Colorectal(57;0.102)|all_neural(114;0.116)			L-Ornithine(DB00129)|Pyridoxal Phosphate(DB00114)	GTAGCAGAAGCCACTGAAGAA	0.418000													127	62					2.47456e-63	4.84867e-63	0.003610	1	0
FOXRED1	55572	broad.mit.edu	37	11	126144846	126144846	+	Silent	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr11:126144846G>A	ENST00000263578.5	+	5	635	c.561G>A	c.(559-561)ctG>ctA	p.L187L	FOXRED1_ENST00000532125.1_Silent_p.L173L|FOXRED1_ENST00000534011.1_3'UTR|FOXRED1_ENST00000442061.2_Silent_p.L17L	NM_017547.3	NP_060017.1	Q96CU9	FXRD1_HUMAN	FAD-dependent oxidoreductase domain containing 1	187						integral to membrane|mitochondrion	oxidoreductase activity|protein binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(1)	15	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0739)|all_lung(97;0.0798)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0729)		AAGTTTCTCTGATGTCTCCTG	0.527000													5	48					0	0	0.001984	0	0
GLMN	11146	broad.mit.edu	37	1	92730115	92730115	+	Nonsense_Mutation	SNP	A	A	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr1:92730115A>T	ENST00000370360.3	-	14	1376	c.1295T>A	c.(1294-1296)tTa>tAa	p.L432*	GLMN_ENST00000534881.1_Nonsense_Mutation_p.L418*	NM_053274.2	NP_444504.1	Q92990	GLMN_HUMAN	glomulin, FKBP associated protein	432					muscle cell differentiation|negative regulation of T cell proliferation|positive regulation of cytokine secretion|positive regulation of interleukin-2 biosynthetic process|positive regulation of phosphorylation|regulation of gene expression, epigenetic|vasculogenesis	intracellular	hepatocyte growth factor receptor binding			endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)	17		all_lung(203;0.00827)|Lung NSC(277;0.0295)		all cancers(265;0.00702)|GBM - Glioblastoma multiforme(16;0.0381)|Epithelial(280;0.0989)		TCTTACCTTTAATGACATGTC	0.289000									Multiple Glomus Tumors (of the Skin), Familial				6	25					0	0	0.001168	0	0
IGHV1-46	28465	broad.mit.edu	37	14	106967442	106967442	+	RNA	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr14:106967442G>T	ENST00000390622.2	-	0	346																											CCTTTACCTGGAGCTACAGCC	0.522000													35	26					7.61001e-30	1.42737e-29	0.005524	1	0
ACOT11	26027	broad.mit.edu	37	1	55067020	55067020	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr1:55067020G>T	ENST00000371316.3	+	9	1045	c.963G>T	c.(961-963)atG>atT	p.M321I	ACOT11_ENST00000481208.1_3'UTR|ACOT11_ENST00000343744.2_Missense_Mutation_p.M321I	NM_015547.3	NP_056362.1	Q8WXI4	ACO11_HUMAN	acyl-CoA thioesterase 11	321	Acyl coenzyme A hydrolase 2.				fatty acid metabolic process|intracellular signal transduction|response to cold		acyl-CoA thioesterase activity|carboxylesterase activity			NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(3)|lung(5)|ovary(1)	17						GTGCCTTTATGACCTTTGTGG	0.657000													29	55					2.2171e-23	3.98803e-23	0.009535	1	0
CASC5	57082	broad.mit.edu	37	15	40917839	40917839	+	Splice_Site	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr15:40917839G>T	ENST00000346991.5	+	11	5844		c.e11+1		CASC5_ENST00000399668.2_Splice_Site			Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5						acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint	acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding			NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		AGATCGGGAGGTGAGCTCTGT	0.338000													17	17					2.23348e-06	2.61869e-06	0.004007	1	0
NOTCH4	4855	broad.mit.edu	37	6	32168650	32168650	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr6:32168650G>T	ENST00000375023.3	-	23	4411	c.4273C>A	c.(4273-4275)Ctg>Atg	p.L1425M		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	1425					cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						GGTCCAGGCAGCAGGGGCTCC	0.652000													5	22					3.59834e-05	4.06744e-05	0.001168	1	0
OR5B3	441608	broad.mit.edu	37	11	58170490	58170490	+	Silent	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr11:58170490G>T	ENST00000309403.2	-	1	392	c.393C>A	c.(391-393)acC>acA	p.T131T		NM_001005469.1	NP_001005469.1	Q8NH48	OR5B3_HUMAN	olfactory receptor, family 5, subfamily B, member 3	131					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(1)	34	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				TCATGGTTGTGGTGTAATGTA	0.478000													22	58					8.10497e-08	1.0126e-07	0.010504	1	0
OR9G1	390174	broad.mit.edu	37	11	56468342	56468342	+	Missense_Mutation	SNP	A	A	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr11:56468342A>C	ENST00000312153.1	+	1	479	c.479A>C	c.(478-480)aAg>aCg	p.K160T		NM_001005213.1	NP_001005213.1			olfactory receptor, family 9, subfamily G, member 1											breast(2)|kidney(1)|lung(25)|stomach(2)|upper_aerodigestive_tract(1)	31						ATCATCACCAAGAAAACGTTT	0.468000													6	113					0	0	0.001168	0	0
IFT140	9742	broad.mit.edu	37	16	1636199	1636199	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr16:1636199C>A	ENST00000426508.2	-	10	1450	c.1087G>T	c.(1087-1089)Gca>Tca	p.A363S	LA16c-395F10.2_ENST00000563162.1_RNA|IFT140_ENST00000439987.2_5'UTR	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN	intraflagellar transport 140 homolog (Chlamydomonas)	363										breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				TTGCCCTCTGCCCCGGGGCTG	0.582000													26	67					3.01185e-09	3.94318e-09	0.003954	1	0
ARHGAP1	392	broad.mit.edu	37	11	46702914	46702914	+	Silent	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr11:46702914G>A	ENST00000311956.4	-	6	562	c.465C>T	c.(463-465)atC>atT	p.I155I		NM_004308.2	NP_004299.1	Q07960	RHG01_HUMAN	Rho GTPase activating protein 1	155	CRAL-TRIO.				Rho protein signal transduction	cytosol|intracellular membrane-bounded organelle	SH3 domain binding|SH3/SH2 adaptor activity			endometrium(1)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	11		Lung NSC(402;1.76e-12)|all_lung(304;1.3e-11)		GBM - Glioblastoma multiforme(35;5.17e-06)|BRCA - Breast invasive adenocarcinoma(625;0.00112)|Lung(87;0.153)		ACAAGGCCTTGATGTTTTTCT	0.522000													35	58					0	0	0.006230	0	0
SLC13A3	64849	broad.mit.edu	37	20	45224895	45224895	+	Translation_Start_Site	SNP	T	T	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr20:45224895T>A	ENST00000435032.1	-	0	732				SLC13A3_ENST00000472148.1_Missense_Mutation_p.K185M|SLC13A3_ENST00000279027.4_Missense_Mutation_p.K232M|SLC13A3_ENST00000372121.1_Missense_Mutation_p.R210W|SLC13A3_ENST00000396360.1_Missense_Mutation_p.K185M|SLC13A3_ENST00000290317.5_Missense_Mutation_p.K185M|SLC13A3_ENST00000495082.1_Missense_Mutation_p.K185M|SLC13A3_ENST00000413164.2_Missense_Mutation_p.R210W			Q8WWT9	S13A3_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3							integral to membrane|plasma membrane	high affinity sodium:dicarboxylate symporter activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(115;0.0122)			Succinic acid(DB00139)	GAGGAAGCCCTTCCAGATGTT	0.562000													18	90					0	0	0.007413	0	0
CSMD3	114788	broad.mit.edu	37	8	113697930	113697930	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr8:113697930C>T	ENST00000297405.5	-	15	2431	c.2187G>A	c.(2185-2187)atG>atA	p.M729I	CSMD3_ENST00000455883.2_Missense_Mutation_p.M625I|CSMD3_ENST00000352409.3_Missense_Mutation_p.M729I|CSMD3_ENST00000343508.3_Missense_Mutation_p.M689I	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	729	CUB 4.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GAACTGTTCCCATTGGTGCAG	0.353000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			26	40					0	0	0.005443	0	0
KCNC2	3747	broad.mit.edu	37	12	75601717	75601717	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr12:75601717C>A	ENST00000549446.1	-	2	727	c.47G>T	c.(46-48)gGc>gTc	p.G16V	KCNC2_ENST00000548513.1_Missense_Mutation_p.G16V|KCNC2_ENST00000393288.2_Missense_Mutation_p.G16V|KCNC2_ENST00000350228.2_Missense_Mutation_p.G16V|KCNC2_ENST00000550433.1_Missense_Mutation_p.G16V|KCNC2_ENST00000341669.3_Missense_Mutation_p.G16V|KCNC2_ENST00000540018.1_Missense_Mutation_p.G16V|KCNC2_ENST00000298972.1_Missense_Mutation_p.G16V	NM_001260497.1|NM_139137.3	NP_001247426.1|NP_631875.1	Q96PR1	KCNC2_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 2	16					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	54						GTGCCGGGTGCCCCCGACATT	0.602000													33	66					6.84511e-11	9.42179e-11	0.003271	1	0
SNX19	399979	broad.mit.edu	37	11	130784380	130784380	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr11:130784380C>A	ENST00000265909.4	-	1	2024	c.1455G>T	c.(1453-1455)aaG>aaT	p.K485N	SNX19_ENST00000528555.1_Intron|SNX19_ENST00000533214.1_Missense_Mutation_p.K485N|SNX19_ENST00000530356.1_Intron|SNX19_ENST00000539184.1_Intron|SNX19_ENST00000533318.1_Intron	NM_014758.2	NP_055573.2	Q92543	SNX19_HUMAN	sorting nexin 19	485					cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding|protein binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(8)|ovary(3)|prostate(1)|skin(6)|urinary_tract(1)	35	all_hematologic(175;0.0597)	Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233)		TGGTGAGATCCTTCTCTAAGC	0.537000													25	57					9.57634e-11	1.31312e-10	0.003330	1	0
XPO7	23039	broad.mit.edu	37	8	21835336	21835336	+	Silent	SNP	T	T	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr8:21835336T>A	ENST00000434536.1	+	8	948	c.846T>A	c.(844-846)ccT>ccA	p.P282P	XPO7_ENST00000252512.9_Silent_p.P273P|XPO7_ENST00000433566.4_Silent_p.P274P			Q9UIA9	XPO7_HUMAN	exportin 7	273				Missing (in Ref. 3; BAA34465).	mRNA transport|protein export from nucleus|transmembrane transport	cytoplasm|nuclear pore	nuclear export signal receptor activity|protein transporter activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724)		ATTCCATCCCTCCTTCATTTT	0.373000													6	22					0	0	0.001168	0	0
NBAS	51594	broad.mit.edu	37	2	15514742	15514742	+	Silent	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr2:15514742C>A	ENST00000281513.5	-	31	3718	c.3693G>T	c.(3691-3693)ctG>ctT	p.L1231L	NBAS_ENST00000441750.1_Silent_p.L1111L	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	1231										NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						CTTGCAAAGGCAGGATCTTTA	0.378000													77	67					2.05912e-35	3.94393e-35	0.003610	1	0
PARD6B	84612	broad.mit.edu	37	20	49366697	49366697	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr20:49366697G>T	ENST00000371610.2	+	3	1034	c.791G>T	c.(790-792)aGt>aTt	p.S264I	PARD6B_ENST00000396039.1_Intron	NM_032521.2	NP_115910.1	Q9BYG5	PAR6B_HUMAN	par-6 family cell polarity regulator beta	264					axonogenesis|cell cycle|cell division|establishment or maintenance of cell polarity|protein complex assembly|regulation of cell migration|tight junction assembly	cytosol|tight junction	protein binding			NS(1)|breast(1)|endometrium(1)|kidney(4)|lung(3)|urinary_tract(1)	11						ACTTCTGGCAGTTCCGGTCAG	0.463000													63	120					7.73544e-29	1.44902e-28	0.003610	1	0
PLG	5340	broad.mit.edu	37	6	161135906	161135906	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr6:161135906G>T	ENST00000308192.9	+	6	691	c.628G>T	c.(628-630)Gac>Tac	p.D210Y		NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	210	Kringle 2.				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	CCAGGCCTGGGACTCTCAGAG	0.468000													4	25					0.00116845	0.00125327	0.001168	1	0
CDH10	1008	broad.mit.edu	37	5	24535323	24535323	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr5:24535323G>T	ENST00000264463.4	-	5	1219	c.712C>A	c.(712-714)Cag>Aag	p.Q238K		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	238	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		TCTTTGGCCTGGATGACCACT	0.463000										HNSCC(23;0.051)			30	40					1.36615e-20	2.37192e-20	0.002836	1	0
SLC6A15	55117	broad.mit.edu	37	12	85260945	85260945	+	Missense_Mutation	SNP	A	A	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr12:85260945A>T	ENST00000266682.5	-	10	2064	c.1523T>A	c.(1522-1524)aTt>aAt	p.I508N	SLC6A15_ENST00000552192.1_Missense_Mutation_p.I401N|SLC6A15_ENST00000309283.7_Missense_Mutation_p.I216N	NM_182767.5	NP_877499.1	Q9H2J7	S6A15_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 15	508					cellular nitrogen compound metabolic process|leucine transport|proline transport	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			kidney(1)|large_intestine(18)|lung(15)|ovary(1)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	44						TATCAGGCCAATACAAAATGC	0.318000													30	12					0	0	0.008361	0	0
MDC1	9656	broad.mit.edu	37	6	30673379	30673379	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr6:30673379G>C	ENST00000376406.3	-	10	4228	c.3581C>G	c.(3580-3582)tCc>tGc	p.S1194C	MDC1-AS1_ENST00000442150.1_RNA|MDC1_ENST00000376405.2_Missense_Mutation_p.S930C	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	1194	Interaction with the PRKDC complex.|Pro-rich.			Missing (in Ref. 2; CAH18685).	cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|kidney(1)|ovary(1)	4						CTTGACAGAGGATCTACTTTT	0.582000								Other conserved DNA damage response genes					59	211					0	0	0.003610	0	0
POM121C	100101267	broad.mit.edu	37	7	75051152	75051152	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr7:75051152C>A	ENST00000453279.2	-	13	3247	c.2383G>T	c.(2383-2385)Ggc>Tgc	p.G795C	POM121C_ENST00000257665.5_Missense_Mutation_p.G1037C	NM_001099415.1	NP_001092885.1	A8CG34	P121C_HUMAN	POM121 transmembrane nucleoporin C	1037	Pore side (Potential).|Thr-rich.				mRNA transport|protein transport|transmembrane transport	endoplasmic reticulum membrane|nuclear membrane|nuclear pore	protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14						GTGGAGCCGCCAAAGGCGGGC	0.667000													31	31					1.26612e-14	1.95244e-14	0.003271	1	0
CC2D2A	57545	broad.mit.edu	37	4	15581639	15581639	+	Nonsense_Mutation	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr4:15581639C>T	ENST00000424120.1	+	30	4074	c.3820C>T	c.(3820-3822)Caa>Taa	p.Q1274*	CC2D2A_ENST00000503292.1_Nonsense_Mutation_p.Q1274*|CC2D2A_ENST00000413206.1_Nonsense_Mutation_p.Q1274*|CC2D2A_ENST00000389652.5_Nonsense_Mutation_p.Q1166*			Q9P2K1	C2D2A_HUMAN	coiled-coil and C2 domain containing 2A	1274					cell projection organization	cilium|microtubule basal body				NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|urinary_tract(2)	32						TGAGAAGTTTCAAGCTGAATG	0.343000													7	74					0	0	0.006214	0	0
PDIA3	2923	broad.mit.edu	37	15	44058156	44058156	+	Missense_Mutation	SNP	A	A	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr15:44058156A>T	ENST00000300289.5	+	7	939	c.791A>T	c.(790-792)tAc>tTc	p.Y264F	PDIA3_ENST00000538521.1_Missense_Mutation_p.Y244F	NM_005313.4	NP_005304.3	P30101	PDIA3_HUMAN	protein disulfide isomerase family A, member 3	264					cell redox homeostasis|glycerol ether metabolic process|post-translational protein modification|protein folding|protein import into nucleus|protein N-linked glycosylation via asparagine|protein retention in ER lumen|signal transduction	endoplasmic reticulum lumen|melanosome	cysteine-type endopeptidase activity|electron carrier activity|phospholipase C activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(2)|skin(1)	17		all_cancers(109;2.61e-15)|all_epithelial(112;1.12e-12)|Lung NSC(122;2.17e-08)|all_lung(180;2.45e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.48e-07)		CTTATTGCTTACTATGATGTG	0.358000													29	15					0	0	0.007291	0	0
TTN	7273	broad.mit.edu	37	2	179529239	179529239	+	Silent	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr2:179529239G>T	ENST00000589042.1	-	168	36452	c.36228C>A	c.(36226-36228)gtC>gtA	p.V12076V	TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000589487.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	10223	Ig-like 80.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCTTTTCCGGGACAACTTCTC	0.393000													33	97					6.50621e-10	8.659e-10	0.002836	1	0
SVOPL	136306	broad.mit.edu	37	7	138312951	138312951	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr7:138312951G>T	ENST00000421622.1	-	7	869	c.661C>A	c.(661-663)Ccc>Acc	p.P221T	SVOPL_ENST00000436657.1_Missense_Mutation_p.P189T|SVOPL_ENST00000419765.3_Missense_Mutation_p.P341T|SVOPL_ENST00000288513.5_Missense_Mutation_p.P189T			Q8N434	SVOPL_HUMAN	SVOP-like	341						integral to membrane	transmembrane transporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	19						TAGTCAGAGGGTGCAAACATG	0.562000													32	18					1.21669e-08	1.57161e-08	0.003271	1	0
TRIM67	440730	broad.mit.edu	37	1	231344799	231344799	+	Silent	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr1:231344799C>T	ENST00000444294.3	+	8	2778	c.1920C>T	c.(1918-1920)ggC>ggT	p.G640G	TRIM67_ENST00000449018.3_Silent_p.G580G|TRIM67_ENST00000366653.5_Silent_p.G642G|TRIM67_ENST00000366652.2_Silent_p.G642G	NM_001004342.3	NP_001004342.3	Q6ZTA4	TRI67_HUMAN	tripartite motif containing 67	642	B30.2/SPRY.					cytoplasm|cytoskeleton	zinc ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Breast(184;0.0871)	all_cancers(173;0.189)|Prostate(94;0.167)				TGGTGCTGGGCACAGCTGCGT	0.617000													22	105					0	0	0.001882	0	0
IQGAP2	10788	broad.mit.edu	37	5	75893271	75893271	+	Silent	SNP	T	T	A	rs141398992	byFrequency	TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr5:75893271T>A	ENST00000274364.6	+	10	1212	c.915T>A	c.(913-915)gcT>gcA	p.A305A	IQGAP2_ENST00000379730.3_5'UTR	NM_006633.2	NP_006624.2	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	305					small GTPase mediated signal transduction	actin cytoskeleton	actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		CAGGGCAGGCTGCAGTGGACC	0.527000													17	12					0	0	0.004990	0	0
ACE2	59272	broad.mit.edu	37	X	15607532	15607532	+	Missense_Mutation	SNP	C	C	A	rs148771870	byFrequency	TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chrX:15607532C>A	ENST00000427411.1	-	6	847	c.631G>T	c.(631-633)Ggg>Tgg	p.G211W	ACE2_ENST00000252519.3_Missense_Mutation_p.G211W	NM_021804.2	NP_068576.1	Q9BYF1	ACE2_HUMAN	angiotensin I converting enzyme 2	211					angiotensin-mediated drinking behavior|proteolysis|receptor biosynthetic process|regulation of cell proliferation|virion attachment, binding of host cell surface receptor	cell surface|extracellular space|integral to membrane|membrane raft|plasma membrane	carboxypeptidase activity|glycoprotein binding|metallopeptidase activity|peptidyl-dipeptidase activity|viral receptor activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	32	Hepatocellular(33;0.183)				Moexipril(DB00691)	CCATCTACCCCATTTACTTCA	0.408000													59	141					1.77791e-30	3.3434e-30	0.003610	1	0
IL17A	3605	broad.mit.edu	37	6	52054021	52054021	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr6:52054021C>A	ENST00000340057.1	+	3	444	c.399C>A	c.(397-399)ttC>ttA	p.F133L		NM_002190.2	NP_002181.1	Q16552	IL17_HUMAN	interleukin 17A	133					apoptosis|cell-cell signaling|fibroblast activation|immune response|inflammatory response|positive regulation of interleukin-23 production|positive regulation of osteoclast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein glycosylation	extracellular space	cytokine activity			endometrium(3)|large_intestine(2)|lung(8)|prostate(3)|skin(1)	17	Lung NSC(77;0.116)					CCAACTCCTTCCGGCTGGAGA	0.597000													107	17					1.81606e-51	3.53448e-51	0.003610	1	0
DIP2A	23181	broad.mit.edu	37	21	47918578	47918578	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr21:47918578G>A	ENST00000318711.7	+	5	670	c.487G>A	c.(487-489)Gtc>Atc	p.V163I	DIP2A_ENST00000427143.2_Missense_Mutation_p.V99I|DIP2A_ENST00000417564.2_Missense_Mutation_p.V163I|DIP2A_ENST00000400274.1_Missense_Mutation_p.V163I|DIP2A_ENST00000435722.3_Missense_Mutation_p.V163I|DIP2A_ENST00000466639.1_Missense_Mutation_p.V163I|DIP2A_ENST00000457905.3_Missense_Mutation_p.V163I	NM_001146116.1|NM_015151.3	NP_001139588.1|NP_055966.2	Q14689	DIP2A_HUMAN	DIP2 disco-interacting protein 2 homolog A (Drosophila)	163					multicellular organismal development	nucleus	catalytic activity|transcription factor binding			cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		CCATTCCAGCGTCGAGCCCTG	0.617000													22	81					0	0	0.002780	0	0
VPS11	55823	broad.mit.edu	37	11	118940016	118940016	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr11:118940016G>T	ENST00000300793.6	+	3	337	c.295G>T	c.(295-297)Gca>Tca	p.A99S	VPS11_ENST00000527798.1_3'UTR	NM_021729.4	NP_068375.3	Q9H270	VPS11_HUMAN	vacuolar protein sorting 11 homolog (S. cerevisiae)	100					protein transport	endocytic vesicle|HOPS complex|late endosome membrane|lysosomal membrane	nucleotide binding|protein binding|zinc ion binding			autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	29	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.88e-05)		CAATATTCTGGCATCTGTTGG	0.493000													22	44					1.64293e-13	2.45002e-13	0.003330	1	0
UCP1	7350	broad.mit.edu	37	4	141484331	141484331	+	Silent	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr4:141484331G>A	ENST00000262999.3	-	4	636	c.561C>T	c.(559-561)atC>atT	p.I187I		NM_021833.4	NP_068605.1	P25874	UCP1_HUMAN	uncoupling protein 1 (mitochondrial, proton carrier)	187					brown fat cell differentiation|cellular lipid metabolic process|respiratory electron transport chain	integral to membrane|mitochondrial inner membrane	binding			NS(1)|breast(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|stomach(1)	16	all_hematologic(180;0.162)					CTGTACAATTGATGATGACAC	0.338000													23	49					0	0	0.005443	0	0
ACRC	93953	broad.mit.edu	37	X	70824130	70824130	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chrX:70824130C>A	ENST00000373695.1	+	7	1540	c.1003C>A	c.(1003-1005)Cct>Act	p.P335T	ACRC_ENST00000373696.3_Missense_Mutation_p.P335T			Q96QF7	ACRC_HUMAN	acidic repeat containing	335						nucleus				autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1)	54	Renal(35;0.156)					TTTGGAAGTTCCTGTGCCAGC	0.473000													29	58					1.77063e-15	2.76578e-15	0.005443	1	0
PLCH2	9651	broad.mit.edu	37	1	2435853	2435853	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr1:2435853C>A	ENST00000419816.2	+	22	3726	c.3452C>A	c.(3451-3453)tCc>tAc	p.S1151Y	PLCH2_ENST00000378488.3_Missense_Mutation_p.S1115Y|PLCH2_ENST00000378483.2_3'UTR|PLCH2_ENST00000449969.1_3'UTR|PLCH2_ENST00000378486.3_Missense_Mutation_p.S1151Y			O75038	PLCH2_HUMAN	phospholipase C, eta 2	1151					intracellular signal transduction|lipid catabolic process	cytoplasm|plasma membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(3)|skin(1)	20	all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2)		AGCATGTCATCCAGCGACACT	0.682000													17	30					6.94344e-10	9.2155e-10	0.006122	1	0
TEKT3	64518	broad.mit.edu	37	17	15212006	15212006	+	Missense_Mutation	SNP	A	A	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr17:15212006A>C	ENST00000395930.1	-	8	1417	c.1231T>G	c.(1231-1233)Ttg>Gtg	p.L411V	TEKT3_ENST00000338696.2_Missense_Mutation_p.L411V	NM_031898.2	NP_114104.1	Q9BXF9	TEKT3_HUMAN	tektin 3	411					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				endometrium(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	23				UCEC - Uterine corpus endometrioid carcinoma (92;0.0877)		TCTCGGCACAACTCAATGTTC	0.572000													10	56					0	0	0.008291	0	0
HACL1	26061	broad.mit.edu	37	3	15628078	15628078	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr3:15628078G>A	ENST00000321169.5	-	6	780	c.413C>T	c.(412-414)tCt>tTt	p.S138F	HACL1_ENST00000457447.2_Intron|HACL1_ENST00000456194.2_Missense_Mutation_p.S111F|HACL1_ENST00000435217.2_Intron|HACL1_ENST00000451445.2_Intron	NM_012260.2	NP_036392.2	Q9UJ83	HACL1_HUMAN	2-hydroxyacyl-CoA lyase 1	138					fatty acid alpha-oxidation	peroxisomal matrix	carbon-carbon lyase activity|identical protein binding|magnesium ion binding|thiamine pyrophosphate binding			NS(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|skin(1)	16						TGGGCGGGCAGAGAACTTGGT	0.358000													24	32					0	0	0.003954	0	0
SIM2	6493	broad.mit.edu	37	21	38092173	38092173	+	Missense_Mutation	SNP	G	G	A	rs149282278	byFrequency	TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr21:38092173G>A	ENST00000290399.6	+	4	1013	c.400G>A	c.(400-402)Gat>Aat	p.D134N	SIM2_ENST00000430056.3_Missense_Mutation_p.D134N	NM_005069.3	NP_005060.1	Q14190	SIM2_HUMAN	single-minded family bHLH transcription factor 2	134	PAS 1.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(2)	16						TTCTGACCACGATGAGATGAC	0.532000													18	70					0	0	0.010504	0	0
RABGAP1	23637	broad.mit.edu	37	9	125751575	125751575	+	Splice_Site	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr9:125751575G>A	ENST00000373647.4	+	5	724		c.e5-1			NM_012197.3	NP_036329.3	Q9Y3P9	RBGP1_HUMAN	RAB GTPase activating protein 1						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						TCTCTGAACAGACTCTTAGAT	0.383000													9	36					0	0	0.008291	0	0
PCDHGA4	56111	broad.mit.edu	37	5	140736964	140736964	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr5:140736964G>T	ENST00000571252.1	+	1	2197	c.2197G>T	c.(2197-2199)Gca>Tca	p.A733S	PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_018917.2	NP_061740.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGCAGGTTGGCAGGTGTGCC	0.617000													22	23					7.41877e-09	9.60857e-09	0.001882	1	0
SLC26A7	115111	broad.mit.edu	37	8	92307860	92307860	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr8:92307860G>C	ENST00000276609.3	+	4	645	c.406G>C	c.(406-408)Ggc>Cgc	p.G136R	SLC26A7_ENST00000523719.1_Missense_Mutation_p.G136R|SLC26A7_ENST00000309536.2_Missense_Mutation_p.G136R	NM_052832.2	NP_439897.1	Q8TE54	S26A7_HUMAN	solute carrier family 26 (anion exchanger), member 7	136						basolateral plasma membrane|integral to membrane|recycling endosome membrane	anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50			BRCA - Breast invasive adenocarcinoma(11;0.00802)			AAGCGTGCTGGGCTTATCCGA	0.483000													28	41					0	0	0.004656	0	0
OSBPL11	114885	broad.mit.edu	37	3	125298818	125298818	+	Silent	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr3:125298818C>T	ENST00000296220.5	-	3	589	c.300G>A	c.(298-300)caG>caA	p.Q100Q		NM_022776.4	NP_073613.2	Q9BXB4	OSB11_HUMAN	oxysterol binding protein-like 11	100	PH.				lipid transport		lipid binding			NS(1)|breast(1)|cervix(1)|kidney(2)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	27						CTCTAGGTTTCTGATTTCTAG	0.378000													29	73					0	0	0.007291	0	0
KMT2E	55904	broad.mit.edu	37	7	104753045	104753045	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr7:104753045C>A	ENST00000334877.4	+	26	5250	c.4716C>A	c.(4714-4716)aaC>aaA	p.N1572K	SRPK2_ENST00000493638.1_Intron|KMT2E_ENST00000311117.3_Missense_Mutation_p.N1614K|KMT2E_ENST00000257745.4_Missense_Mutation_p.N1614K					lysine (K)-specific methyltransferase 2E																		CCTCTCAGAACCCTACCATTC	0.547000													58	28					5.52965e-18	9.15078e-18	0.003610	1	0
DLC1	10395	broad.mit.edu	37	8	12956865	12956865	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr8:12956865C>A	ENST00000276297.4	-	9	3390	c.2981G>T	c.(2980-2982)aGg>aTg	p.R994M	DLC1_ENST00000358919.2_Missense_Mutation_p.R557M|DLC1_ENST00000512044.2_Missense_Mutation_p.R591M|DLC1_ENST00000520226.1_Missense_Mutation_p.R483M	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1	994					actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						CCTGTTGGACCTGGTTAGGGA	0.562000													12	19					4.84862e-15	7.51691e-15	0.000978	1	0
TSHZ2	128553	broad.mit.edu	37	20	51871229	51871229	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr20:51871229C>A	ENST00000371497.5	+	2	2119	c.1232C>A	c.(1231-1233)tCt>tAt	p.S411Y	TSHZ2_ENST00000603338.2_Missense_Mutation_p.S408Y|TSHZ2_ENST00000329613.6_Missense_Mutation_p.S408Y	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	411					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			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)			GTCACCAGCTCTGCCTCCAAG	0.527000													100	123					5.84261e-33	1.10879e-32	0.003610	1	0
EXOSC7	23016	broad.mit.edu	37	3	45052818	45052818	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr3:45052818G>T	ENST00000265564.7	+	8	911	c.863G>T	c.(862-864)gGa>gTa	p.G288V	CLEC3B_ENST00000490386.1_Intron|EXOSC7_ENST00000461361.1_3'UTR	NM_015004.3	NP_055819.2	Q15024	EXOS7_HUMAN	exosome component 7	288					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA processing	cytosol|exosome (RNase complex)|nucleolus	3'-5'-exoribonuclease activity|protein binding|RNA binding			endometrium(3)|large_intestine(1)|lung(3)	7				BRCA - Breast invasive adenocarcinoma(193;0.00911)|KIRC - Kidney renal clear cell carcinoma(197;0.0509)|Kidney(197;0.064)		CAGAAAGTTGGATTCCTGGGA	0.453000													11	3					6.42651e-13	9.36176e-13	0.000978	1	0
TIMM17B	10245	broad.mit.edu	37	X	48754135	48754135	+	Nonsense_Mutation	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chrX:48754135C>T	ENST00000396779.3	-	3	181	c.33G>A	c.(31-33)tgG>tgA	p.W11*	TIMM17B_ENST00000466995.1_5'UTR|TIMM17B_ENST00000376582.3_Nonsense_Mutation_p.W11*	NM_001167947.1	NP_001161419.1	O60830	TI17B_HUMAN	translocase of inner mitochondrial membrane 17 homolog B (yeast)	11					protein targeting to mitochondrion	integral to membrane|microtubule cytoskeleton|mitochondrial inner membrane presequence translocase complex	P-P-bond-hydrolysis-driven protein transmembrane transporter activity			kidney(1)|large_intestine(1)|lung(3)|ovary(1)	6						CCACAATTCGCCATGGGCTGC	0.557000													11	37					0	0	0.001368	0	0
OR10Z1	128368	broad.mit.edu	37	1	158576318	158576318	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr1:158576318G>C	ENST00000361284.1	+	1	90	c.90G>C	c.(88-90)ttG>ttC	p.L30F		NM_001004478.1	NP_001004478.1	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z, member 1	30					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37	all_hematologic(112;0.0378)					TCTTTGCCTTGTTCCTCTCTC	0.502000													36	73					0	0	0.003755	0	0
GALNT13	114805	broad.mit.edu	37	2	155115595	155115595	+	Missense_Mutation	SNP	A	A	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr2:155115595A>T	ENST00000392825.3	+	8	1486	c.919A>T	c.(919-921)Act>Tct	p.T307S	GALNT13_ENST00000409237.1_Missense_Mutation_p.T307S|GALNT13_ENST00000487047.1_3'UTR	NM_052917.2	NP_443149.2	Q8IUC8	GLT13_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)	307	Catalytic subdomain B.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						AGAGATAGGAACTTACGATGC	0.343000													15	101					0	0	0.006122	0	0
MRPL21	219927	broad.mit.edu	37	11	68660871	68660871	+	Splice_Site	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr11:68660871C>A	ENST00000567045.1	-	5	429	c.194_splice	c.e5+1	p.G65_splice	MRPL21_ENST00000450904.2_Splice_Site_p.G65_splice|MRPL21_ENST00000362034.2_Splice_Site_p.G150_splice			Q7Z2W9	RM21_HUMAN	mitochondrial ribosomal protein L21	150					translation	mitochondrion|ribosome	RNA binding|structural constituent of ribosome			large_intestine(1)|lung(6)|prostate(1)	8			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			CAGCCATTACCCGAGGAGTGG	0.532000													16	28					5.45024e-15	8.44059e-15	0.003330	1	0
HSPG2	3339	broad.mit.edu	37	1	22181236	22181236	+	Silent	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr1:22181236C>A	ENST00000374695.3	-	49	6235	c.6156G>T	c.(6154-6156)ccG>ccT	p.P2052P	HSPG2_ENST00000430507.1_Silent_p.P2P	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	2052	Ig-like C2-type 6.			P -> G (in Ref. 1; AAA52700).	angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	CAATCTTGACCGGCGGTGGGC	0.637000													3	10					6.4e-05	7.15772e-05	0.004672	1	0
OR4K17	390436	broad.mit.edu	37	14	20586177	20586177	+	Silent	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr14:20586177G>T	ENST00000315543.4	+	1	612	c.612G>T	c.(610-612)gtG>gtT	p.V204V		NM_001004715.1	NP_001004715.1	Q8NGC6	OR4KH_HUMAN	olfactory receptor, family 4, subfamily K, member 17	176					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|skin(3)	21	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.77e-06)	GBM - Glioblastoma multiforme(265;0.0144)		GTCCCAATGTGGTAGACAGCA	0.428000													35	61					8.69298e-16	1.37417e-15	0.006999	1	0
PCDHA11	56138	broad.mit.edu	37	5	140250979	140250979	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr5:140250979C>A	ENST00000398640.2	+	1	2291	c.2291C>A	c.(2290-2292)cCt>cAt	p.P764H	PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA10_ENST00000506939.2_Intron	NM_018902.3	NP_061725.1														breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGGGCCCACCTAAGACGGAC	0.637000													11	3					3.07112e-06	3.57762e-06	0.000978	1	0
AK5	26289	broad.mit.edu	37	1	77876672	77876672	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr1:77876672G>C	ENST00000344720.5	+	7	1846	c.820G>C	c.(820-822)Gcc>Ccc	p.A274P	AK5_ENST00000354567.2_Missense_Mutation_p.A300P	NM_012093.3	NP_036225.2	Q9Y6K8	KAD5_HUMAN	adenylate kinase 5	300					ADP biosynthetic process|ATP metabolic process|dADP biosynthetic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine ribonucleotide biosynthetic process|signal transduction	centrosome|cytosol	adenylate kinase activity|ATP binding|cAMP-dependent protein kinase regulator activity|nucleoside kinase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|prostate(1)|skin(2)|stomach(1)	40						CCAGTTTGATGCCGACCGCGA	0.418000													3	32					0	0	0.009096	0	0
F5	2153	broad.mit.edu	37	1	169529962	169529962	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr1:169529962T>A	ENST00000367796.3	-	4	617	c.416A>T	c.(415-417)gAc>gTc	p.D139V	F5_ENST00000546081.1_Missense_Mutation_p.D2V|F5_ENST00000367797.3_Missense_Mutation_p.D139V			P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	139	F5/8 type A 1.|Plastocyanin-like 1.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	CACAGCGTCGTCCATCTTCTC	0.522000													26	45					0	0	0.005443	0	0
QDPR	5860	broad.mit.edu	37	4	17488827	17488827	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr4:17488827C>A	ENST00000281243.5	-	7	841	c.662G>T	c.(661-663)cGa>cTa	p.R221L	QDPR_ENST00000513615.1_3'UTR|QDPR_ENST00000508623.1_Missense_Mutation_p.D157Y|QDPR_ENST00000428702.2_Missense_Mutation_p.R190L	NM_000320.2	NP_000311.2	P09417	DHPR_HUMAN	quinoid dihydropteridine reductase	221					dihydrobiopterin metabolic process|L-phenylalanine catabolic process|tetrahydrobiopterin biosynthetic process	cytosol	6,7-dihydropteridine reductase activity|binding|electron carrier activity			autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	13					NADH(DB00157)	TGAGCTCGGTCGGTTTTTCCC	0.458000													12	31					0.000151284	0.000166966	0.001855	1	0
KCTD7	154881	broad.mit.edu	37	7	66270381	66270381	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr7:66270381C>G	ENST00000380828.2	+	10	1349	c.1195C>G	c.(1195-1197)Ctg>Gtg	p.L399V	KCTD7_ENST00000510829.2_Missense_Mutation_p.L359V|KCTD7_ENST00000451741.2_Missense_Mutation_p.L359V|RABGEF1_ENST00000284957.5_Missense_Mutation_p.L359V|RABGEF1_ENST00000450873.2_Missense_Mutation_p.L359V|RABGEF1_ENST00000439720.2_Missense_Mutation_p.L372V|RABGEF1_ENST00000437078.2_Missense_Mutation_p.L373V|RABGEF1_ENST00000484547.2_3'UTR			Q96MP8	KCTD7_HUMAN	potassium channel tetramerization domain containing 7	0						voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|urinary_tract(1)	16						TTTCACCAATCTGGTGAGTAA	0.512000													20	46					0	0	0.003954	0	0
ZBTB10	65986	broad.mit.edu	37	8	81431522	81431522	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr8:81431522G>T	ENST00000430430.1	+	7	3154	c.2375G>T	c.(2374-2376)aGt>aTt	p.S792I	ZBTB10_ENST00000379091.4_Missense_Mutation_p.S500I|ZBTB10_ENST00000455036.3_Missense_Mutation_p.S792I|ZBTB10_ENST00000426744.2_Missense_Mutation_p.S768I	NM_001277145.1	NP_001264074.1	Q96DT7	ZBT10_HUMAN	zinc finger and BTB domain containing 10	792					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(4)	20	all_cancers(3;1.68e-09)|all_epithelial(4;5.13e-11)|Lung NSC(7;1.75e-07)|all_lung(9;7.38e-07)|Breast(3;2.96e-06)		BRCA - Breast invasive adenocarcinoma(6;0.000434)|Epithelial(68;0.00486)|all cancers(69;0.0296)			TTAGCAGCCAGTGTTGGAATA	0.398000													12	29					7.93312e-07	9.47004e-07	0.002450	1	0
ENOX2	10495	broad.mit.edu	37	X	129759372	129759372	+	Silent	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chrX:129759372G>A	ENST00000338144.3	-	16	2166	c.1749C>T	c.(1747-1749)acC>acT	p.T583T	ENOX2_ENST00000370935.1_Silent_p.T554T|ENOX2_ENST00000370927.1_Silent_p.T583T|ENOX2_ENST00000394363.1_Silent_p.T554T	NM_182314.1	NP_872114.1	Q16206	ENOX2_HUMAN	ecto-NOX disulfide-thiol exchanger 2	583					cell growth|electron transport chain|regulation of growth|transport|ultradian rhythm	cytosol|external side of plasma membrane|extracellular space	nucleic acid binding|nucleotide binding|protein disulfide oxidoreductase activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(3)	33						CCTGCTTGAAGGTATGCTGGA	0.468000													10	27					0	0	0.008291	0	0
IPO7	10527	broad.mit.edu	37	11	9431591	9431591	+	Missense_Mutation	SNP	T	T	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr11:9431591T>C	ENST00000379719.3	+	4	579	c.437T>C	c.(436-438)cTa>cCa	p.L146P		NM_006391.2	NP_006382.1	O95373	IPO7_HUMAN	importin 7	146					interspecies interaction between organisms|signal transduction	Golgi apparatus|nuclear pore|soluble fraction	protein transporter activity|Ran GTPase binding|small GTPase regulator activity			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217)		GCTTGTTGGCTAGGAATTCTT	0.378000													33	28					0	0	0.003755	0	0
KCNJ12	3768	broad.mit.edu	37	17	21318690	21318690	+	Silent	SNP	C	C	T	rs138321747	by1000genomes	TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr17:21318690C>T	ENST00000583088.1	+	3	931	c.36C>T	c.(34-36)atC>atT	p.I12I	KCNJ12_ENST00000331718.5_Silent_p.I12I	NM_021012.4	NP_066292.2			potassium inwardly-rectifying channel, subfamily J, member 12											NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)		CCTACAGCATCGTGTCATCGG	0.711000										Prostate(3;0.18)			5	19					0	0	0.001984	0	0
PSG2	5670	broad.mit.edu	37	19	43585324	43585324	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr19:43585324C>T	ENST00000406487.1	-	2	237	c.139G>A	c.(139-141)Gag>Aag	p.E47K		NM_031246.3	NP_112536.2	P11465	PSG2_HUMAN	pregnancy specific beta-1-glycoprotein 2	47	Ig-like V-type.				cell migration|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2)	49		Prostate(69;0.00682)				TCCTTCCCCTCGGAAACTTTT	0.483000													55	127					0	0	0.003610	0	0
NOX3	50508	broad.mit.edu	37	6	155743851	155743851	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr6:155743851G>C	ENST00000159060.2	-	10	1387	c.1285C>G	c.(1285-1287)Cag>Gag	p.Q429E		NM_015718.2	NP_056533.1	Q9HBY0	NOX3_HUMAN	NADPH oxidase 3	429							electron carrier activity|flavin adenine dinucleotide binding|iron ion binding			cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	45		Breast(66;0.0183)		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)		AGTGGGGTCTGTGCCTCACTG	0.463000													31	36					0	0	0.009535	0	0
EGFLAM	133584	broad.mit.edu	37	5	38451501	38451501	+	Silent	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr5:38451501C>A	ENST00000322350.5	+	19	2974	c.2628C>A	c.(2626-2628)ccC>ccA	p.P876P	EGFLAM_ENST00000336740.6_Silent_p.P642P|EGFLAM_ENST00000397202.2_Silent_p.P242P|EGFLAM_ENST00000506135.1_Silent_p.P19P|EGFLAM_ENST00000397210.3_Silent_p.P19P|EGFLAM_ENST00000354891.3_Silent_p.P884P|EGFLAM_ENST00000514476.1_Silent_p.P19P	NM_152403.3	NP_689616.2	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	884	Laminin G-like 3.					cell junction|proteinaceous extracellular matrix|synapse				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					GAGACAGCCCCATGAGACCCA	0.522000													57	70					3.4597e-24	6.29353e-24	0.003610	1	0
DEF6	50619	broad.mit.edu	37	6	35277470	35277470	+	Silent	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr6:35277470G>T	ENST00000316637.5	+	2	125	c.120G>T	c.(118-120)acG>acT	p.T40T	DEF6_ENST00000542066.1_5'UTR	NM_022047.3	NP_071330.3	Q9H4E7	DEFI6_HUMAN	differentially expressed in FDCP 6 homolog (mouse)	40						cytoplasm|nucleus|plasma membrane				cervix(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	15						ACCTGTACACGGTCCTGCACA	0.587000													66	31					5.98616e-33	1.13455e-32	0.003610	1	0
LPPR4	9890	broad.mit.edu	37	1	99772228	99772228	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr1:99772228C>A	ENST00000370185.3	+	7	2451	c.1954C>A	c.(1954-1956)Cct>Act	p.P652T	LPPR4_ENST00000370184.1_Missense_Mutation_p.P494T|LPPR4_ENST00000457765.1_Missense_Mutation_p.P594T	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		652							phosphatidate phosphatase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		GTGGAAAGCCCCTGAAAAGGG	0.532000													7	16					5.18039e-06	6.01058e-06	0.003080	1	0
HLA-DQB1	3119	broad.mit.edu	37	6	32629998	32629998	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr6:32629998G>C	ENST00000399084.1	-	4	585	c.407C>G	c.(406-408)tCc>tGc	p.S136C	HLA-DQB1_ENST00000399079.3_Missense_Mutation_p.S136C|HLA-DQB1_ENST00000374943.4_Missense_Mutation_p.S136C|HLA-DQB1_ENST00000399082.3_Missense_Mutation_p.S46C|XXbac-BPG254F23.6_ENST00000443574.1_RNA|HLA-DQB1_ENST00000434651.2_Missense_Mutation_p.S136C			P01920	DQB1_HUMAN	major histocompatibility complex, class II, DQ beta 1	136	Beta-2.|Ig-like C1-type.				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endoplasmic reticulum membrane|endosome membrane|Golgi apparatus|integral to membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity			breast(1)|large_intestine(1)|lung(1)|pancreas(1)	4					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CTCTGTCCTGGATGGGGAGAT	0.532000									T-cell Lymphoma, (Cutaneous) , Familial Clustering of;Sjgren syndrome;Melanoma, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia				19	59					0	0	0.001882	0	0
TRAF3IP1	26146	broad.mit.edu	37	2	239307493	239307493	+	Missense_Mutation	SNP	A	A	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr2:239307493A>T	ENST00000373327.4	+	17	2231	c.2009A>T	c.(2008-2010)aAc>aTc	p.N670I	TRAF3IP1_ENST00000391993.3_Missense_Mutation_p.N604I|TRAF3IP1_ENST00000391994.2_Missense_Mutation_p.N670I	NM_015650.3	NP_056465.2	Q8TDR0	MIPT3_HUMAN	TNF receptor-associated factor 3 interacting protein 1	670	DISC1-interaction domain.					cytoplasm|cytoskeleton	protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|skin(2)	23		all_epithelial(40;3.22e-10)|Breast(86;0.000523)|Renal(207;0.00571)|Ovarian(221;0.156)|all_hematologic(139;0.182)		Epithelial(121;9.92e-24)|OV - Ovarian serous cystadenocarcinoma(60;7.85e-12)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.01e-07)|BRCA - Breast invasive adenocarcinoma(100;7.72e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0184)		GTGAAGGCCAACATCCTCAAG	0.448000													41	47					0	0	0.006999	0	0
ASXL3	80816	broad.mit.edu	37	18	31319240	31319240	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr18:31319240C>A	ENST00000269197.5	+	11	1872	c.1872C>A	c.(1870-1872)agC>agA	p.S624R		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	624	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						CCTGTACCAGCCTGCCTTCTC	0.483000													21	14					6.44725e-10	8.58843e-10	0.002299	1	0
ITGA10	8515	broad.mit.edu	37	1	145531018	145531018	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr1:145531018G>T	ENST00000369304.3	+	7	925	c.750G>T	c.(748-750)atG>atT	p.M250I	ITGA10_ENST00000539363.1_Missense_Mutation_p.M107I|ITGA10_ENST00000481236.1_3'UTR|ITGA10_ENST00000538811.1_Missense_Mutation_p.M119I	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN	integrin, alpha 10	250	VWFA.				cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity			NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					AAGCAATAATGGTGGCCTGGT	0.562000													22	24					2.32416e-17	3.78984e-17	0.002299	1	0
NRXN3	9369	broad.mit.edu	37	14	79933641	79933641	+	Silent	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr14:79933641C>A	ENST00000281127.7	+	2	1204	c.325C>A	c.(325-327)Cgg>Agg	p.R109R	NRXN3_ENST00000428277.2_Silent_p.R109R|NRXN3_ENST00000557594.1_Silent_p.R109R|NRXN3_ENST00000554719.1_Silent_p.R741R|NRXN3_ENST00000335750.5_Silent_p.R741R|NRXN3_ENST00000556003.1_3'UTR	NM_138970.3	NP_620426.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	109	Laminin G-like.				angiogenesis|cell adhesion	integral to membrane		p.R109W(1)|p.R741W(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		GCCCAGCACGCGGTCTGACCG	0.577000													22	31					1.10923e-09	1.4695e-09	0.002780	1	0
SLC16A2	6567	broad.mit.edu	37	X	73744385	73744385	+	Missense_Mutation	SNP	A	A	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chrX:73744385A>C	ENST00000276033.5	+	3	1155	c.989A>C	c.(988-990)aAg>aCg	p.K330T	SLC16A2_ENST00000587091.1_Missense_Mutation_p.K256T			P36021	MOT8_HUMAN	solute carrier family 16, member 2 (thyroid hormone transporter)	256						integral to plasma membrane|membrane fraction	monocarboxylic acid transmembrane transporter activity|symporter activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	21					Pyruvic acid(DB00119)	CTGGGGGATAAGATCAAGCTG	0.547000													4	21					0	0	0.009096	0	0
ERC2	26059	broad.mit.edu	37	3	56468732	56468732	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr3:56468732G>A	ENST00000288221.6	-	2	559	c.304C>T	c.(304-306)Ccc>Tcc	p.P102S		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	102						cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding			breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		GCAATATTGGGACTACTCCCC	0.522000													22	56					0	0	0.003330	0	0
SEMA3D	223117	broad.mit.edu	37	7	84644484	84644484	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr7:84644484G>T	ENST00000284136.6	-	14	1637	c.1594C>A	c.(1594-1596)Cac>Aac	p.H532N	SEMA3D_ENST00000484038.1_5'UTR	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D	532					cell differentiation|nervous system development	extracellular region|membrane	receptor activity			NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						TCGCATCTGTGCAAGGAGAGC	0.468000													58	74					1.00798e-23	1.82217e-23	0.003610	1	0
ATP1A1	476	broad.mit.edu	37	1	116935553	116935553	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr1:116935553G>A	ENST00000537345.1	+	11	1773	c.1410G>A	c.(1408-1410)atG>atA	p.M470I	ATP1A1_ENST00000369496.4_Missense_Mutation_p.M439I|ATP1A1_ENST00000295598.5_Missense_Mutation_p.M470I	NM_001160233.1	NP_001153705.1	P05023	AT1A1_HUMAN	ATPase, Na+/K+ transporting, alpha 1 polypeptide	470					ATP biosynthetic process	melanosome|sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|protein binding|sodium:potassium-exchanging ATPase activity			NS(2)|breast(2)|cervix(3)|endometrium(2)|kidney(5)|large_intestine(9)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47	Lung SC(450;0.225)	all_cancers(81;1.28e-06)|all_epithelial(167;3.48e-07)|all_lung(203;2.64e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0164)|LUSC - Lung squamous cell carcinoma(189;0.0548)|Colorectal(144;0.0825)|COAD - Colon adenocarcinoma(174;0.127)|all cancers(265;0.24)	Acetyldigitoxin(DB00511)|Almitrine(DB01430)|Aluminium(DB01370)|Bepridil(DB01244)|Bretylium(DB01158)|Captopril(DB01197)|Deslanoside(DB01078)|Diazoxide(DB01119)|Digitoxin(DB01396)|Digoxin(DB00390)|Esomeprazole(DB00736)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Ouabain(DB01092)|Pantoprazole(DB00213)|Trichlormethiazide(DB01021)	TGAAGGAGATGAGAGAAAGAT	0.522000													12	73					0	0	0.001368	0	0
PCDHB3	56132	broad.mit.edu	37	5	140480404	140480404	+	Silent	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr5:140480404G>A	ENST00000231130.2	+	1	171	c.171G>A	c.(169-171)gaG>gaA	p.E57E	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN		57	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TAAGGGTAGAGGAACTGGCCG	0.502000													14	42					0	0	0.004007	0	0
KIAA1211	57482	broad.mit.edu	37	4	57181941	57181941	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr4:57181941C>G	ENST00000504228.1	+	6	2378	c.2273C>G	c.(2272-2274)gCc>gGc	p.A758G	KIAA1211_ENST00000264229.6_Missense_Mutation_p.A758G|KIAA1211_ENST00000541073.1_Missense_Mutation_p.A751G			Q6ZU35	K1211_HUMAN	KIAA1211	758										endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					GAAGAGACAGCCCCCCAGCCT	0.592000													17	18					0	0	0.004007	0	0
PRDM11	56981	broad.mit.edu	37	11	45117395	45117395	+	Silent	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr11:45117395C>A	ENST00000263765.4	+	2	288	c.39C>A	c.(37-39)atC>atA	p.I13I	PRDM11_ENST00000530656.1_Silent_p.I13I			Q9NQV5	PRD11_HUMAN	PR domain containing 11	13										endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	26						ccctgatgatcgtggagtgcc	0.527000													19	60					6.44725e-10	8.58843e-10	0.002299	1	0
OR11G2	390439	broad.mit.edu	37	14	20666392	20666392	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr14:20666392C>A	ENST00000357366.3	+	1	898	c.898C>A	c.(898-900)Cca>Aca	p.P300T		NM_001005503.1	NP_001005503.1	Q8NGC1	O11G2_HUMAN	olfactory receptor, family 11, subfamily G, member 2	300					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(95;0.00108)		Epithelial(56;9.76e-07)|all cancers(55;5.61e-06)	GBM - Glioblastoma multiforme(265;0.0144)		GTATGGGAGcccaccatctaa	0.478000													34	62					1.45844e-13	2.17937e-13	0.002836	1	0
DNHD1	144132	broad.mit.edu	37	11	6588935	6588935	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr11:6588935C>T	ENST00000254579.6	+	36	12760	c.12196C>T	c.(12196-12198)Cgg>Tgg	p.R4066W	DNHD1_ENST00000527990.2_Missense_Mutation_p.R4066W	NM_144666.2	NP_653267.2	Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	4066					microtubule-based movement	dynein complex	microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		CCTCCTGGGTCGGCCCCTGGA	0.602000													8	59					0	0	0.000978	0	0
TMEM120B	144404	broad.mit.edu	37	12	122213649	122213649	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr12:122213649C>T	ENST00000540377.1	+	6	547	c.151C>T	c.(151-153)Cgg>Tgg	p.R51W	TMEM120B_ENST00000449592.2_3'UTR			A0PK00	T120B_HUMAN	transmembrane protein 120B	0						integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(6)	11	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;5.75e-05)|Epithelial(86;0.000128)|BRCA - Breast invasive adenocarcinoma(302;0.238)		CCTGTGCCCTCGGCCCGGACT	0.667000											OREG0022207	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	39					0	0	0.001168	0	0
COL5A1	1289	broad.mit.edu	37	9	137623971	137623971	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr9:137623971C>T	ENST00000371817.3	+	9	1801	c.1387C>T	c.(1387-1389)Ccg>Tcg	p.P463S		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	463	Interrupted collagenous region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		GATTATCGAGCCGGTGAGGAC	0.582000													30	20					0	0	0.008361	0	0
RAB38	23682	broad.mit.edu	37	11	87883020	87883020	+	Silent	SNP	T	T	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr11:87883020T>A	ENST00000243662.6	-	2	388	c.306A>T	c.(304-306)gcA>gcT	p.A102A		NM_022337.2	NP_071732.1	P57729	RAB38_HUMAN	RAB38, member RAS oncogene family	102					protein transport|small GTPase mediated signal transduction	melanosome|plasma membrane	GTP binding|GTPase activity			large_intestine(2)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				TTTTCCACTTTGCCACTGCTT	0.453000													63	103					0	0	0.003610	0	0
FANCF	2188	broad.mit.edu	37	11	22646301	22646301	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr11:22646301T>A	ENST00000327470.3	-	1	1086	c.1056A>T	c.(1054-1056)ttA>ttT	p.L352F		NM_022725.3	NP_073562.1	Q9NPI8	FANCF_HUMAN	Fanconi anemia, complementation group F	352					DNA repair	nucleoplasm	protein binding			kidney(3)|large_intestine(3)|lung(6)|skin(1)	13						TACGAAGAGCTAATAAGAGGT	0.433000			"""N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia		OREG0020844	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	33	95					0	0	0.002445	0	0
NMNAT2	23057	broad.mit.edu	37	1	183230436	183230436	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr1:183230436C>T	ENST00000287713.6	-	9	988	c.654G>A	c.(652-654)atG>atA	p.M218I	NMNAT2_ENST00000294868.4_Missense_Mutation_p.M213I	NM_015039.3	NP_055854.1	Q9BZQ4	NMNA2_HUMAN	nicotinamide nucleotide adenylyltransferase 2	218					water-soluble vitamin metabolic process	Golgi membrane|nucleus	ATP binding|nicotinamide-nucleotide adenylyltransferase activity|nicotinate-nucleotide adenylyltransferase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(7)|skin(2)	18						CAATCACCTCCATCTAAAGAA	0.493000													23	19					0	0	0.002780	0	0
STAT2	6773	broad.mit.edu	37	12	56748643	56748643	+	Silent	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr12:56748643C>T	ENST00000314128.4	-	7	575	c.552G>A	c.(550-552)aaG>aaA	p.K184K	STAT2_ENST00000418572.2_Silent_p.K180K|STAT2_ENST00000557235.1_Silent_p.K180K			P52630	STAT2_HUMAN	signal transducer and activator of transcription 2, 113kDa	184					interspecies interaction between organisms|JAK-STAT cascade|regulation of transcription from RNA polymerase II promoter|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	cytosol|nucleoplasm|plasma membrane	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			NS(1)|endometrium(2)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|skin(3)	31						GAGAGGGTGTCTTCCCTGGAT	0.522000													22	144					0	0	0.010504	0	0
CAPN6	827	broad.mit.edu	37	X	110494896	110494896	+	Missense_Mutation	SNP	A	A	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chrX:110494896A>T	ENST00000324068.1	-	6	941	c.774T>A	c.(772-774)gaT>gaA	p.D258E	CAPN6_ENST00000541758.1_Missense_Mutation_p.D3E	NM_014289.3	NP_055104.2	Q9Y6Q1	CAN6_HUMAN	calpain 6	258	Calpain catalytic.				microtubule bundle formation|proteolysis|regulation of cytoskeleton organization	perinuclear region of cytoplasm|spindle microtubule	calcium-dependent cysteine-type endopeptidase activity|microtubule binding			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	47						TTTTGCGAATATCAGTCATGG	0.453000													40	279					0	0	0.002522	0	0
PKNOX2	63876	broad.mit.edu	37	11	125300009	125300009	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr11:125300009G>T	ENST00000298282.9	+	12	1435	c.1164G>T	c.(1162-1164)caG>caT	p.Q388H	PKNOX2_ENST00000530517.1_3'UTR|PKNOX2_ENST00000542175.1_Missense_Mutation_p.Q324H	NM_022062.2	NP_071345.2	Q96KN3	PKNX2_HUMAN	PBX/knotted 1 homeobox 2	388						nucleus	sequence-specific DNA binding transcription factor activity	p.Q388Q(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(14)|ovary(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	29		Breast(109;0.00234)|all_lung(97;0.0191)|Lung NSC(97;0.0196)|Medulloblastoma(222;0.0447)|all_neural(223;0.116)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.117)		TGCAGCAGCAGGGCGGTGCCC	0.622000													18	36					2.48551e-13	3.66498e-13	0.004990	1	0
DCAF8L2	347442	broad.mit.edu	37	X	27766228	27766228	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chrX:27766228G>T	ENST00000451261.2	+	5	1615	c.1216G>T	c.(1216-1218)Ggc>Tgc	p.G406C		NM_001136533.1	NP_001130005.1			DDB1 and CUL4 associated factor 8-like 2											central_nervous_system(1)|endometrium(9)|kidney(3)|lung(7)|pancreas(1)|skin(3)	24						AGAAAACAATGGCGTGCTCAA	0.433000													13	24					7.03913e-09	9.1332e-09	0.001368	1	0
CHRM2	1129	broad.mit.edu	37	7	136700567	136700567	+	Missense_Mutation	SNP	A	A	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr7:136700567A>G	ENST00000445907.2	+	3	1483	c.955A>G	c.(955-957)Aac>Gac	p.N319D	CHRM2_ENST00000401861.1_Missense_Mutation_p.N319D|AC009264.1_ENST00000586239.1_RNA|AC009264.1_ENST00000593789.1_RNA|AC009264.1_ENST00000439694.1_RNA|AC009264.1_ENST00000425981.2_RNA|CHRM2_ENST00000402486.3_Missense_Mutation_p.N319D|AC009264.1_ENST00000597642.1_RNA|CHRM2_ENST00000453373.1_Missense_Mutation_p.N319D|CHRM2_ENST00000320658.5_Missense_Mutation_p.N319D|AC009264.1_ENST00000598184.1_RNA|AC009264.1_ENST00000592183.1_RNA|CHRM2_ENST00000397608.3_Missense_Mutation_p.N319D	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	319					activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)	CAAAGATGAGAACTCTAAGCA	0.468000													20	45					0	0	0.008871	0	0
NEFH	4744	broad.mit.edu	37	22	29881762	29881762	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr22:29881762G>C	ENST00000310624.6	+	3	1167	c.1134G>C	c.(1132-1134)atG>atC	p.M378I		NM_021076.3	NP_066554.2	P12036	NFH_HUMAN	neurofilament, heavy polypeptide	378	Coil 2B.|Rod.				cell death|nervous system development	neurofilament				cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						AGTGGGAGATGGCCGCCCAGC	0.572000													12	18					0	0	0.000978	0	0
HOXB5	3215	broad.mit.edu	37	17	46670529	46670529	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr17:46670529C>G	ENST00000239151.5	-	1	794	c.516G>C	c.(514-516)caG>caC	p.Q172H	HOXB-AS3_ENST00000487849.3_RNA|HOXB-AS3_ENST00000465846.2_RNA|HOXB-AS3_ENST00000480872.1_RNA|HOXB-AS3_ENST00000476204.1_RNA|HOXB-AS3_ENST00000492897.3_RNA|HOXB-AS3_ENST00000429755.4_RNA|HOXB-AS3_ENST00000467155.2_RNA|HOXB3_ENST00000552000.2_Intron|HOXB-AS3_ENST00000474040.1_RNA	NM_002147.3	NP_002138.1	P09067	HXB5_HUMAN	homeobox B5	172						nucleus	sequence-specific DNA binding			large_intestine(1)|lung(2)	3						TTTGCGGAGTCTGCCCCTCGG	0.597000													33	47					0	0	0.004289	0	0
CDH4	1002	broad.mit.edu	37	20	60448826	60448826	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr20:60448826G>T	ENST00000360469.5	+	7	1008	c.920G>T	c.(919-921)aGc>aTc	p.S307I	CDH4_ENST00000543233.1_Missense_Mutation_p.S233I	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	307	Cadherin 2.				adherens junction organization|cell junction assembly		calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			GCTGACGACAGCACCACGGCC	0.617000													52	82					5.39261e-20	9.29584e-20	0.003610	1	0
TM9SF3	56889	broad.mit.edu	37	10	98307744	98307744	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr10:98307744C>A	ENST00000371142.4	-	8	1178	c.962G>T	c.(961-963)aGg>aTg	p.R321M	TM9SF3_ENST00000490192.1_5'UTR	NM_020123.3	NP_064508.3	Q9HD45	TM9S3_HUMAN	transmembrane 9 superfamily member 3	321						integral to membrane	binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(2)|prostate(1)	15		Colorectal(252;0.158)		Epithelial(162;1.84e-09)|all cancers(201;2.84e-08)		CATTGATCCCCTCCTAAAAAG	0.318000													17	37					0.006122	0.00641902	0.006122	1	0
KIF2B	84643	broad.mit.edu	37	17	51902405	51902405	+	Nonsense_Mutation	SNP	A	A	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr17:51902405A>T	ENST00000268919.4	+	1	2167	c.2011A>T	c.(2011-2013)Aag>Tag	p.K671*		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	671					blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						CGTGAAGAGCAAGGTAGAGTG	0.438000													4	19					0	0	0.000602	0	0
PAX4	5078	broad.mit.edu	37	7	127251591	127251591	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr7:127251591C>G	ENST00000341640.2	-	8	1092	c.887G>C	c.(886-888)tGg>tCg	p.W296S	PAX4_ENST00000378740.2_Missense_Mutation_p.W296S|PAX4_ENST00000463946.1_Missense_Mutation_p.W294S|PAX4_ENST00000338516.3_3'UTR	NM_006193.2	NP_006184.2	O43316	PAX4_HUMAN	paired box 4	304	Transcription repression.				cell differentiation|endocrine pancreas development|organ morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|kidney(2)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						ATTCTTACCCCAGCAGGGCTT	0.577000													23	59					0	0	0.005443	0	0
HECTD1	25831	broad.mit.edu	37	14	31602763	31602763	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr14:31602763C>G	ENST00000399332.1	-	23	4185	c.3697G>C	c.(3697-3699)Gga>Cga	p.G1233R	HECTD1_ENST00000553700.1_Missense_Mutation_p.G1233R	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	1233					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		AGTTCGAATCCAGATAATGAG	0.383000													13	117					0	0	0.004007	0	0
OR5T3	390154	broad.mit.edu	37	11	56019807	56019807	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr11:56019807G>T	ENST00000303059.3	+	1	132	c.132G>T	c.(130-132)ttG>ttT	p.L44F		NM_001004747.1	NP_001004747.1	Q8NGG3	OR5T3_HUMAN	olfactory receptor, family 5, subfamily T, member 3	44					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	39	Esophageal squamous(21;0.00448)					TGTTTATATTGACAGGCTTCA	0.363000													12	52					0.00136819	0.00146534	0.001368	1	0
PCDHA5	56143	broad.mit.edu	37	5	140203561	140203561	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr5:140203561G>T	ENST00000529859.1	+	1	2201	c.2201G>T	c.(2200-2202)gGc>gTc	p.G734V	PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000378126.3_Missense_Mutation_p.G734V|PCDHA5_ENST00000529619.1_Missense_Mutation_p.G734V	NM_018908.2	NP_061731.1														NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCACACGGGGCAAGCCCACT	0.662000													27	14					9.39395e-14	1.41397e-13	0.006320	1	0
TTN	7273	broad.mit.edu	37	2	179599228	179599228	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr2:179599228C>A	ENST00000589042.1	-	52	15547	c.15323G>T	c.(15322-15324)tGg>tTg	p.W5108L	TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.W3864L|TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.W4791L	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	4791	Ig-like 31.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTCTTTGAACCAGCTAATTTC	0.383000													51	80					8.00217e-19	1.35364e-18	0.003610	1	0
KIF5A	3798	broad.mit.edu	37	12	57961342	57961342	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr12:57961342G>A	ENST00000455537.2	+	8	929	c.655G>A	c.(655-657)Gaa>Aaa	p.E219K	KIF5A_ENST00000286452.5_Missense_Mutation_p.E130K	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN	kinesin family member 5A	219	Kinesin-motor.|Microtubule-binding.				blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						GGAGAACATGGAAACGGAGCA	0.557000													8	60					0	0	0.006214	0	0
KYNU	8942	broad.mit.edu	37	2	143685264	143685264	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr2:143685264G>T	ENST00000264170.4	+	4	585	c.327G>T	c.(325-327)tgG>tgT	p.W109C	KYNU_ENST00000375773.2_Missense_Mutation_p.W109C|KYNU_ENST00000410015.2_Missense_Mutation_p.W109C|KYNU_ENST00000409512.1_Missense_Mutation_p.W109C	NM_003937.2	NP_003928.1	Q16719	KYNU_HUMAN	kynureninase	109					anthranilate metabolic process|NAD biosynthetic process|quinolinate biosynthetic process|response to interferon-gamma|response to vitamin B6	cytosol|mitochondrion|soluble fraction	kynureninase activity|protein homodimerization activity			large_intestine(10)|liver(1)|lung(18)|prostate(3)|skin(4)	36				BRCA - Breast invasive adenocarcinoma(221;0.072)	L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)	AGCGTCCTTGGATTACAGGAG	0.358000													24	103					1.77063e-15	2.76578e-15	0.005443	1	0
DNAH11	8701	broad.mit.edu	37	7	21901539	21901539	+	Silent	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr7:21901539C>A	ENST00000328843.6	+	70	11323	c.11292C>A	c.(11290-11292)atC>atA	p.I3764I	DNAH11_ENST00000409508.3_Silent_p.I3757I			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	3764					microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						AGGGACGCATCTCTATCCTGA	0.502000									Kartagener syndrome				26	8					4.87955e-14	7.37536e-14	0.005443	1	0
PDE11A	50940	broad.mit.edu	37	2	178769854	178769854	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr2:178769854C>G	ENST00000286063.5	-	3	1449	c.1132G>C	c.(1132-1134)Gcc>Ccc	p.A378P	PDE11A_ENST00000358450.4_Missense_Mutation_p.A128P|PDE11A_ENST00000497003.1_5'UTR|PDE11A_ENST00000449286.2_Missense_Mutation_p.A20P|PDE11A_ENST00000409504.1_Missense_Mutation_p.A20P	NM_016953.3	NP_058649.3	Q9HCR9	PDE11_HUMAN	phosphodiesterase 11A	378					platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)			TTCCTTGAGGCAGCAAAGAGC	0.363000									Primary Pigmented Nodular Adrenocortical Disease, Familial				17	52					0	0	0.007413	0	0
FBXL4	26235	broad.mit.edu	37	6	99328438	99328438	+	Missense_Mutation	SNP	A	A	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr6:99328438A>C	ENST00000369244.2	-	8	1808	c.1380T>G	c.(1378-1380)agT>agG	p.S460R	FBXL4_ENST00000229971.1_Missense_Mutation_p.S460R			Q9UKA2	FBXL4_HUMAN	F-box and leucine-rich repeat protein 4	460					ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|ubiquitin ligase complex				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|prostate(3)|skin(2)	18		all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197)		BRCA - Breast invasive adenocarcinoma(108;0.0413)		CCATGACACAACTGCCTAAAC	0.423000													10	25					0	0	0.008291	0	0
OR2T4	127074	broad.mit.edu	37	1	248525105	248525105	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr1:248525105G>A	ENST00000366475.1	+	1	223	c.223G>A	c.(223-225)Gct>Act	p.A75T		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	75					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GTCTGGAAATGCTGTCCTGAT	0.463000													23	255					0	0	0.004656	0	0
ZFC3H1	196441	broad.mit.edu	37	12	72013875	72013875	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr12:72013875G>A	ENST00000378743.3	-	26	5238	c.4880C>T	c.(4879-4881)tCt>tTt	p.S1627F		NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	1627					RNA processing	intracellular	metal ion binding	p.S1627Y(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						TTCCAATAAAGATTTACAAAG	0.363000													22	7					0	0	0.002299	0	0
PRG4	10216	broad.mit.edu	37	1	186277469	186277469	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr1:186277469C>A	ENST00000445192.2	+	7	2663	c.2618C>A	c.(2617-2619)cCt>cAt	p.P873H	PRG4_ENST00000367484.3_Missense_Mutation_p.P402H|PRG4_ENST00000367483.4_Missense_Mutation_p.P832H|PRG4_ENST00000367486.3_Missense_Mutation_p.P830H|PRG4_ENST00000367485.4_Missense_Mutation_p.P780H	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	873					cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CACAAAAGCCCTGATGAATCA	0.502000													57	68					3.93605e-18	6.52106e-18	0.003610	1	0
DDN	23109	broad.mit.edu	37	12	49390588	49390588	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr12:49390588C>G	ENST00000421952.2	-	2	2092	c.2071G>C	c.(2071-2073)Gag>Cag	p.E691Q		NM_015086.1	NP_055901.2	O94850	DEND_HUMAN	dendrin	691	Interaction with CD2AP and NPHS1 (By similarity).					dendritic spine membrane|endoplasmic reticulum membrane|nucleus|perikaryon				NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)	8						AGGACCTCCTCGGTTTGGCTT	0.562000											OREG0021778	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	94					0	0	0.002450	0	0
MAP2K3	5606	broad.mit.edu	37	17	21206509	21206509	+	Silent	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr17:21206509G>T	ENST00000342679.4	+	7	780	c.531G>T	c.(529-531)ctG>ctT	p.L177L	MAP2K3_ENST00000316920.6_Silent_p.L148L|MAP2K3_ENST00000361818.5_Silent_p.L148L	NM_145109.2	NP_659731.1	P46734	MP2K3_HUMAN	mitogen-activated protein kinase kinase 3	177	Protein kinase.				activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of transcription, DNA-dependent|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity								COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553)		TGCGGGCCCTGGAGCATCTGC	0.627000													10	19					1.41608e-15	2.22395e-15	0.001855	1	0
SETD1A	9739	broad.mit.edu	37	16	30975533	30975533	+	Missense_Mutation	SNP	G	G	T	rs148087764		TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr16:30975533G>T	ENST00000262519.8	+	6	1444	c.758G>T	c.(757-759)cGa>cTa	p.R253L		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	253	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck|Set1C/COMPASS complex	histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						TCCAGCAGCCGACAAGATACC	0.622000													43	46					3.54561e-26	6.56526e-26	0.009718	1	0
EFTUD2	9343	broad.mit.edu	37	17	42953336	42953336	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr17:42953336G>A	ENST00000426333.2	-	10	1132	c.835C>T	c.(835-837)Cgc>Tgc	p.R279C	EFTUD2_ENST00000591382.1_Missense_Mutation_p.R279C|EFTUD2_ENST00000592576.1_Missense_Mutation_p.R269C|EFTUD2_ENST00000402521.3_Missense_Mutation_p.R244C	NM_001142605.1|NM_001258354.1|NM_004247.3	NP_001136077.1|NP_001245283.1|NP_004238.3	Q15029	U5S1_HUMAN	elongation factor Tu GTP binding domain containing 2	279						Cajal body|catalytic step 2 spliceosome|cytoplasm|nuclear speck	GTP binding|GTPase activity|protein binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	32		Prostate(33;0.109)				ACAATGTGGCGCAGCTTGTAA	0.512000													47	177					0	0	0.002852	0	0
AWAT1	158833	broad.mit.edu	37	X	69455968	69455968	+	Silent	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chrX:69455968C>A	ENST00000374521.3	+	3	275	c.234C>A	c.(232-234)atC>atA	p.I78I	AWAT1_ENST00000480702.1_3'UTR	NM_001013579.2	NP_001013597.1	Q58HT5	AWAT1_HUMAN	acyl-CoA wax alcohol acyltransferase 1	78					lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	long-chain-alcohol O-fatty-acyltransferase activity			breast(2)|central_nervous_system(1)|large_intestine(4)|lung(3)|ovary(4)|skin(1)	15						GGACCCACATCAGGGACTATT	0.502000													14	26					5.01169e-05	5.62553e-05	0.004990	1	0
USP29	57663	broad.mit.edu	37	19	57640451	57640451	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr19:57640451C>A	ENST00000254181.4	+	4	862	c.408C>A	c.(406-408)agC>agA	p.S136R	USP29_ENST00000598197.1_Missense_Mutation_p.S136R	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	136					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CATTTTACAGCATTTGTAACA	0.373000													13	38					4.3838e-07	5.30304e-07	0.001855	1	0
GABRG2	2566	broad.mit.edu	37	5	161580330	161580330	+	Missense_Mutation	SNP	T	T	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr5:161580330T>G	ENST00000356592.3	+	10	1844	c.1384T>G	c.(1384-1386)Tgc>Ggc	p.C462G	GABRG2_ENST00000414552.2_Missense_Mutation_p.C502G|GABRG2_ENST00000393933.4_Missense_Mutation_p.C359G|GABRG2_ENST00000361925.4_Missense_Mutation_p.C454G	NM_000816.3|NM_198904.2	NP_000807.2|NP_944494.1	P18507	GBRG2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 2	454					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)		CACTGCCTTCTGCCTGTTTAA	0.458000													34	91					0	0	0.006230	0	0
TIAM1	7074	broad.mit.edu	37	21	32492884	32492884	+	Silent	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr21:32492884C>T	ENST00000286827.3	-	29	5049	c.4578G>A	c.(4576-4578)gaG>gaA	p.E1526E	TIAM1_ENST00000541036.1_Silent_p.E1466E	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	1526					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						CCTGAAGCCGCTCCTGCAGGT	0.567000													16	32					0	0	0.004990	0	0
GABRG2	2566	broad.mit.edu	37	5	161580244	161580244	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr5:161580244G>C	ENST00000356592.3	+	10	1758	c.1298G>C	c.(1297-1299)cGa>cCa	p.R433P	GABRG2_ENST00000414552.2_Missense_Mutation_p.R473P|GABRG2_ENST00000393933.4_Missense_Mutation_p.R330P|GABRG2_ENST00000361925.4_Missense_Mutation_p.R425P	NM_000816.3|NM_198904.2	NP_000807.2|NP_944494.1	P18507	GBRG2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 2	425	Interaction with GABARAP (Potential).				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding	p.R433Q(1)		NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)		GAAGATTGTCGAACAGGAGCT	0.468000													50	30					0	0	0.003610	0	0
PCNT	5116	broad.mit.edu	37	21	47783821	47783821	+	Missense_Mutation	SNP	G	G	T	rs35772268		TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr21:47783821G>T	ENST00000359568.5	+	14	2688	c.2581G>T	c.(2581-2583)Gcc>Tcc	p.A861S	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	861					cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					GGAAGACTGCGCCCTGCAGCT	0.657000													26	52					7.4402e-23	1.32841e-22	0.003954	1	0
IL18RAP	8807	broad.mit.edu	37	2	103040797	103040797	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr2:103040797G>T	ENST00000264260.2	+	5	1091	c.502G>T	c.(502-504)Ggg>Tgg	p.G168W	IL18RAP_ENST00000409369.1_Missense_Mutation_p.G26W	NM_003853.2	NP_003844.1	O95256	I18RA_HUMAN	interleukin 18 receptor accessory protein	168	Ig-like C2-type 1.				cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						cctacttcttgggagcactgg	0.443000													39	37					3.09479e-21	5.43182e-21	0.006999	1	0
FAM135B	51059	broad.mit.edu	37	8	139163958	139163958	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr8:139163958G>T	ENST00000395297.1	-	13	2930	c.2760C>A	c.(2758-2760)aaC>aaA	p.N920K		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	920										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			AGATGCCACTGTTGGAAAGAG	0.507000										HNSCC(54;0.14)			28	82					7.76418e-22	1.36771e-21	0.005443	1	0
UBXN2A	165324	broad.mit.edu	37	2	24205808	24205808	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr2:24205808G>T	ENST00000309033.4	+	5	574	c.330G>T	c.(328-330)gaG>gaT	p.E110D	UBXN2A_ENST00000446425.2_3'UTR|UBXN2A_ENST00000404924.1_Missense_Mutation_p.E110D|UBXN2A_ENST00000535786.1_Missense_Mutation_p.E110D	NM_181713.3	NP_859064.2	P68543	UBX2A_HUMAN	UBX domain protein 2A	110	SEP.									endometrium(1)|large_intestine(3)|liver(1)|lung(6)	11						ATAAAGAAGAGGTGGACGTTA	0.358000													14	49					3.27435e-08	4.13002e-08	0.002450	1	0
MINA	84864	broad.mit.edu	37	3	97686167	97686167	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr3:97686167T>A	ENST00000333396.6	-	2	853	c.271A>T	c.(271-273)Agc>Tgc	p.S91C	MINA_ENST00000360258.4_Missense_Mutation_p.S91C|MINA_ENST00000394198.2_Missense_Mutation_p.S91C|MINA_ENST00000330299.2_Missense_Mutation_p.S91C	NM_001042533.2|NM_032778.5	NP_001035998.1|NP_116167.3	Q8IUF8	MINA_HUMAN	MYC induced nuclear antigen	91					ribosome biogenesis	cytoplasm|nucleolus				breast(2)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1)	13						ATCCCCCGGCTGCACAGACTC	0.478000													112	232					0	0	0.003610	0	0
UTP14A	10813	broad.mit.edu	37	X	129063311	129063311	+	Splice_Site	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chrX:129063311G>T	ENST00000394422.3	+	15	2071		c.e15-1		UTP14A_ENST00000425117.2_Splice_Site|RP4-537K23.4_ENST00000432062.1_RNA|UTP14A_ENST00000371051.5_Splice_Site|UTP14A_ENST00000371042.3_Splice_Site	NM_006649.3	NP_006640.2	Q9BVJ6	UT14A_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein, homolog A (yeast)						rRNA processing	nucleolus|small-subunit processome	protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(16)|ovary(3)|urinary_tract(1)	32						TTCCTTTCCAGGTACGAGTGC	0.493000													28	70					4.43304e-23	7.95419e-23	0.006320	1	0
XPC	7508	broad.mit.edu	37	3	14199617	14199617	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr3:14199617C>G	ENST00000285021.7	-	9	1980	c.1766G>C	c.(1765-1767)tGg>tCg	p.W589S	XPC_ENST00000449060.2_Missense_Mutation_p.W552S	NM_001145769.1|NM_004628.4	NP_001139241.1|NP_004619.3	Q01831	XPC_HUMAN	xeroderma pigmentosum, complementation group C	589	Interaction with RAD23B.				nucleotide-excision repair, DNA damage recognition|nucleotide-excision repair, DNA damage removal	cytoplasm|nucleoplasm|XPC complex	bubble DNA binding|damaged DNA binding|loop DNA binding|protein binding|single-stranded DNA binding			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CACTGTCATCCAGACTGGGTC	0.557000			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				35	60					0	0	0.002836	0	0
GPR115	221393	broad.mit.edu	37	6	47681720	47681720	+	Missense_Mutation	SNP	A	A	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr6:47681720A>T	ENST00000283303.2	+	6	997	c.739A>T	c.(739-741)Atc>Ttc	p.I247F	GPR115_ENST00000371220.1_Missense_Mutation_p.I304F|GPR115_ENST00000327753.3_Missense_Mutation_p.I247F	NM_153838.3	NP_722580.3	Q8IZF3	GP115_HUMAN	G protein-coupled receptor 115	247					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	52						AGGGTTTCACATCAACCATAA	0.393000													13	74					0	0	0.001855	0	0
ZMYM6	9204	broad.mit.edu	37	1	35457958	35457958	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr1:35457958G>A	ENST00000357182.4	-	15	2250	c.2023C>T	c.(2023-2025)Cca>Tca	p.P675S	ZMYM6_ENST00000493328.1_5'UTR|ZMYM6_ENST00000487874.1_Missense_Mutation_p.P675S|ZMYM6_ENST00000373340.2_Missense_Mutation_p.P675S	NM_007167.3	NP_009098.3	O95789	ZMYM6_HUMAN	zinc finger, MYM-type 6	675					multicellular organismal development	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(10)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	44		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13)				TGGGAAGATGGAAATTTCATA	0.383000													25	40					0	0	0.003954	0	0
ZNF831	128611	broad.mit.edu	37	20	57769036	57769036	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr20:57769036C>G	ENST00000371030.2	+	1	2962	c.2962C>G	c.(2962-2964)Ctt>Gtt	p.L988V		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	988						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					GGGGACCCCTCTTTCTCCCAG	0.637000													20	59					0	0	0.008871	0	0
MUC16	94025	broad.mit.edu	37	19	9059308	9059308	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr19:9059308C>A	ENST00000397910.4	-	3	28341	c.28138G>T	c.(28138-28140)Ggt>Tgt	p.G9380C		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9382	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTAAAGGTACCCTGCGAGGTA	0.507000													54	24					2.23044e-30	4.18894e-30	0.003610	1	0
IL2RG	3561	broad.mit.edu	37	X	70327653	70327653	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chrX:70327653G>T	ENST00000374202.2	-	8	1134	c.1043C>A	c.(1042-1044)gCc>gAc	p.A348D	IL2RG_ENST00000456850.2_Missense_Mutation_p.A158D|IL2RG_ENST00000374188.3_Missense_Mutation_p.A77D	NM_000206.2	NP_000197.1	P31785	IL2RG_HUMAN	interleukin 2 receptor, gamma	348					immune response|interleukin-4-mediated signaling pathway|interspecies interaction between organisms	external side of plasma membrane|integral to plasma membrane	cytokine receptor activity|interleukin-2 binding			breast(1)|endometrium(3)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|urinary_tract(1)	15	Renal(35;0.156)				Aldesleukin(DB00041)|Denileukin diftitox(DB00004)	GCATGGGGAGGCCCCAGGCCC	0.602000									Severe Combined Immunodeficiency, X-linked				12	16					7.03913e-09	9.1332e-09	0.001368	1	0
TNMD	64102	broad.mit.edu	37	X	99849302	99849302	+	Silent	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chrX:99849302C>A	ENST00000373031.4	+	4	583	c.366C>A	c.(364-366)atC>atA	p.I122I	TNMD_ENST00000485971.1_3'UTR	NM_022144.2	NP_071427.2	Q9H2S6	TNMD_HUMAN	tenomodulin	122	BRICHOS.					integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(7)|skin(1)	16						AATGTTTTATCAAAACTCAGA	0.338000													18	23					1.22574e-08	1.57906e-08	0.002299	1	0
ZBTB21	49854	broad.mit.edu	37	21	43411970	43411970	+	Silent	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr21:43411970C>T	ENST00000310826.5	-	3	2418	c.2235G>A	c.(2233-2235)cgG>cgA	p.R745R	ZBTB21_ENST00000465968.1_5'UTR|ZBTB21_ENST00000398499.1_Silent_p.R745R|ZBTB21_ENST00000398505.3_Silent_p.R544R|ZBTB21_ENST00000398511.3_Silent_p.R745R	NM_001098402.1	NP_001091872.1			zinc finger and BTB domain containing 21																		CGGCCGCGTTCCGGCACAGCC	0.547000													57	140					0	0	0.003610	0	0
IGHV1-45	28466	broad.mit.edu	37	14	106963107	106963107	+	RNA	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr14:106963107C>A	ENST00000390621.2	-	0	232																											TGTCCGGGGGCCTGTCGCACC	0.552000													10	116					0.000673444	0.000728265	0.008291	1	0
STARD8	9754	broad.mit.edu	37	X	67940832	67940832	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chrX:67940832T>A	ENST00000252336.6	+	8	2248	c.1876T>A	c.(1876-1878)Tcg>Acg	p.S626T	STARD8_ENST00000374597.3_Missense_Mutation_p.S626T|STARD8_ENST00000374599.3_Missense_Mutation_p.S706T	NM_014725.4	NP_055540.2	Q92502	STAR8_HUMAN	StAR-related lipid transfer (START) domain containing 8	626	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion	GTPase activator activity			NS(2)|breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	50						GAATGAGACCTCGCCTGACAA	0.562000													12	36					0	0	0.001368	0	0
NAV3	89795	broad.mit.edu	37	12	78579401	78579401	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr12:78579401G>T	ENST00000397909.2	+	31	5886	c.5713G>T	c.(5713-5715)Ggt>Tgt	p.G1905C	NAV3_ENST00000552300.1_3'UTR|NAV3_ENST00000228327.6_Missense_Mutation_p.G1883C|NAV3_ENST00000266692.7_Missense_Mutation_p.G1706C|NAV3_ENST00000536525.2_Missense_Mutation_p.G1883C			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1905						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						AGATGATGCTGGTGATGCAAC	0.358000										HNSCC(70;0.22)			21	15					3.28513e-13	4.82441e-13	0.003954	1	0
CNDP2	55748	broad.mit.edu	37	18	72173175	72173175	+	Missense_Mutation	SNP	A	A	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr18:72173175A>G	ENST00000324262.4	+	4	612	c.296A>G	c.(295-297)cAc>cGc	p.H99R	CNDP2_ENST00000324301.8_Intron|CNDP2_ENST00000579847.1_Missense_Mutation_p.H99R	NM_018235.2	NP_060705.2	Q96KP4	CNDP2_HUMAN	CNDP dipeptidase 2 (metallopeptidase M20 family)	99						cytoplasm	carboxypeptidase activity|metal ion binding|metallopeptidase activity|protein binding|tripeptidase activity			breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(5)|ovary(2)|skin(2)|stomach(3)	24		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.22)		ATTTACGGGCACCTGGATGTG	0.662000													11	38					0	0	0.001368	0	0
APOB	338	broad.mit.edu	37	2	21229397	21229397	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr2:21229397G>T	ENST00000233242.1	-	26	10470	c.10343C>A	c.(10342-10344)aCc>aAc	p.T3448N		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	3448	Heparin-binding.				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	p.T3448N(1)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TTTTGACTTGGTATTTCCATT	0.378000													19	136					1.01871e-10	1.39291e-10	0.008871	1	0
APLP2	334	broad.mit.edu	37	11	129996639	129996639	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr11:129996639G>T	ENST00000263574.5	+	8	1207	c.1135G>T	c.(1135-1137)Gag>Tag	p.E379*	APLP2_ENST00000543137.1_Nonsense_Mutation_p.E286*|APLP2_ENST00000278756.7_Nonsense_Mutation_p.E389*|APLP2_ENST00000539648.1_Nonsense_Mutation_p.E167*|APLP2_ENST00000345598.5_Nonsense_Mutation_p.E150*|APLP2_ENST00000528499.1_Nonsense_Mutation_p.E323*|APLP2_ENST00000338167.5_Nonsense_Mutation_p.E379*	NM_001642.2	NP_001633.1	Q06481	APLP2_HUMAN	amyloid beta (A4) precursor-like protein 2	379					G-protein coupled receptor protein signaling pathway	integral to membrane|nucleus|plasma membrane	DNA binding|identical protein binding|serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_hematologic(175;0.0429)	Breast(109;0.00586)|Lung NSC(97;0.00785)|all_lung(97;0.0154)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0197)|Lung(977;0.24)		TGTGTATTTCGAGACCTCTGC	0.483000													70	151					1.74474e-33	3.31547e-33	0.003610	1	0
TNXB	7148	broad.mit.edu	37	6	32024401	32024401	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr6:32024401C>A	ENST00000375244.3	-	23	8306	c.8105G>T	c.(8104-8106)gGc>gTc	p.G2702V	TNXB_ENST00000375247.2_Missense_Mutation_p.G2702V			P22105	TENX_HUMAN	tenascin XB	2762	Fibronectin type-III 19.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CACGCGCTGGCCACCGTGGAA	0.647000													19	17					2.98393e-07	3.64004e-07	0.002780	1	0
MYRF	745	broad.mit.edu	37	11	61539178	61539178	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr11:61539178G>A	ENST00000278836.5	+	6	1043	c.947G>A	c.(946-948)cGt>cAt	p.R316H	MYRF_ENST00000265460.5_Missense_Mutation_p.R307H|TMEM258_ENST00000535042.1_Intron	NM_001127392.1	NP_001120864.1			myelin regulatory factor																		AGCATTGCCCGTGTCCAGACA	0.692000													33	81					0	0	0.004878	0	0
KCNB2	9312	broad.mit.edu	37	8	73849198	73849198	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr8:73849198T>A	ENST00000523207.1	+	3	2196	c.1608T>A	c.(1606-1608)agT>agA	p.S536R		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	536					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			AGCATCTGAGTGCCCAGAAAC	0.498000													25	38					0	0	0.003954	0	0
DISP1	84976	broad.mit.edu	37	1	223178307	223178307	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr1:223178307G>C	ENST00000284476.6	+	8	3732	c.3568G>C	c.(3568-3570)Gag>Cag	p.E1190Q		NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	1190					diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity	p.E1190Q(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		ACTGGAGCATGAGTTTTATGA	0.453000													31	32					0	0	0.008361	0	0
GABRG2	2566	broad.mit.edu	37	5	161580243	161580243	+	Nonsense_Mutation	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr5:161580243C>T	ENST00000356592.3	+	10	1757	c.1297C>T	c.(1297-1299)Cga>Tga	p.R433*	GABRG2_ENST00000414552.2_Nonsense_Mutation_p.R473*|GABRG2_ENST00000393933.4_Nonsense_Mutation_p.R330*|GABRG2_ENST00000361925.4_Nonsense_Mutation_p.R425*	NM_000816.3|NM_198904.2	NP_000807.2|NP_944494.1	P18507	GBRG2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 2	425	Interaction with GABARAP (Potential).				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)		TGAAGATTGTCGAACAGGAGC	0.468000													48	31					0	0	0.003610	0	0
LYSMD2	256586	broad.mit.edu	37	15	52017075	52017075	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr15:52017075C>A	ENST00000267838.3	-	2	1031	c.517G>T	c.(517-519)Gaa>Taa	p.E173*	LYSMD2_ENST00000454181.2_Nonsense_Mutation_p.E82*|LYSMD2_ENST00000558126.1_Nonsense_Mutation_p.E66*|LYSMD2_ENST00000560491.1_Nonsense_Mutation_p.E82*	NM_153374.2	NP_699205.1	Q8IV50	LYSM2_HUMAN	LysM, putative peptidoglycan-binding, domain containing 2	173					cell wall macromolecule catabolic process					lung(2)|upper_aerodigestive_tract(1)	3				all cancers(107;0.00258)		GCTGACACTTCCTCAGGCTGC	0.498000													27	53					8.24728e-16	1.30657e-15	0.004656	1	0
DNER	92737	broad.mit.edu	37	2	230231801	230231801	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr2:230231801G>T	ENST00000341772.4	-	12	2024	c.1890C>A	c.(1888-1890)agC>agA	p.S630R		NM_139072.3	NP_620711.3	Q8NFT8	DNER_HUMAN	delta/notch-like EGF repeat containing	630					central nervous system development|endocytosis|neuron migration|Notch signaling pathway|synapse assembly	dendrite|early endosome|integral to membrane|plasma membrane	calcium ion binding|clathrin binding|transmembrane receptor activity			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	63		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)		TGTTGGTGAGGCTCTCCGCCA	0.522000													8	20					1.58986e-06	1.87775e-06	0.008291	1	0
ADAMTSL3	57188	broad.mit.edu	37	15	84611388	84611388	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr15:84611388G>T	ENST00000286744.5	+	18	2382	c.2158G>T	c.(2158-2160)Gga>Tga	p.G720*	ADAMTSL3_ENST00000567476.1_Nonsense_Mutation_p.G720*	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	720	TSP type-1 5.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			AGCTACCTGTGGAGTTGGAAT	0.542000													43	31					3.4345e-17	5.57528e-17	0.002852	1	0
ARHGAP30	257106	broad.mit.edu	37	1	161024438	161024438	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr1:161024438G>A	ENST00000368013.3	-	4	723	c.403C>T	c.(403-405)Cgg>Tgg	p.R135W	ARHGAP30_ENST00000368015.1_Intron|ARHGAP30_ENST00000368016.3_Missense_Mutation_p.R135W	NM_001025598.1|NM_181720.2	NP_001020769.1|NP_859071.2	Q7Z6I6	RHG30_HUMAN	Rho GTPase activating protein 30	135	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			GGGAGTTCCCGAAGCACCTCT	0.527000													20	68					0	0	0.008871	0	0
SH3D21	79729	broad.mit.edu	37	1	36786094	36786094	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr1:36786094G>T	ENST00000453908.2	+	14	1858	c.1830G>T	c.(1828-1830)agG>agT	p.R610S	SH3D21_ENST00000426732.2_Missense_Mutation_p.R494S|SH3D21_ENST00000505871.1_Missense_Mutation_p.R499S|SH3D21_ENST00000474766.1_3'UTR|SH3D21_ENST00000312808.4_Missense_Mutation_p.R256S	NM_001162530.1	NP_001156002.1	A4FU49	SH321_HUMAN	SH3 domain containing 21	494										endometrium(1)|large_intestine(6)|lung(4)|pancreas(1)	12						ACGAGCAGAGGCCTCTGAGAG	0.592000													13	32					1.5842e-08	2.03002e-08	0.001855	1	0
WDR44	54521	broad.mit.edu	37	X	117530973	117530973	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chrX:117530973G>T	ENST00000254029.3	+	7	1489	c.1094G>T	c.(1093-1095)gGa>gTa	p.G365V	WDR44_ENST00000371822.5_Missense_Mutation_p.G340V|WDR44_ENST00000371825.3_Missense_Mutation_p.G365V	NM_019045.4	NP_061918.3	Q5JSH3	WDR44_HUMAN	WD repeat domain 44	365						cytosol|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm				breast(4)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	33						CTGGATACTGGAGAAGAAATA	0.343000													14	39					0.000308642	0.000336785	0.003163	1	0
COL16A1	1307	broad.mit.edu	37	1	32162668	32162668	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr1:32162668C>A	ENST00000373672.3	-	8	1276	c.760G>T	c.(760-762)Gcc>Tcc	p.A254S	COL16A1_ENST00000271069.6_Missense_Mutation_p.A254S|COL16A1_ENST00000373668.3_Missense_Mutation_p.A254S	NM_001856.3	NP_001847.3	Q07092	COGA1_HUMAN	collagen, type XVI, alpha 1	254	Nonhelical region 10 (NC10).				cell adhesion|female pregnancy|integrin-mediated signaling pathway	collagen type XVI	integrin binding|structural molecule activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		TCCCGGCGGGCCTTGGAGGTC	0.587000													19	58					1.28384e-07	1.58482e-07	0.001882	1	0
CENPK	64105	broad.mit.edu	37	5	64850710	64850710	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr5:64850710C>A	ENST00000396679.1	-	3	239	c.25G>T	c.(25-27)Gat>Tat	p.D9Y	CENPK_ENST00000510693.1_5'UTR|CENPK_ENST00000508421.1_5'UTR|CENPK_ENST00000506282.2_Intron|CENPK_ENST00000242872.3_Missense_Mutation_p.D9Y|CENPK_ENST00000514814.1_Missense_Mutation_p.D9Y|CENPK_ENST00000510354.1_Missense_Mutation_p.D9Y	NM_022145.4	NP_071428.2	Q9BS16	CENPK_HUMAN	centromere protein K	9					CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleoplasm				breast(1)|endometrium(1)|large_intestine(3)|lung(5)	10		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)		Lung(70;0.00466)		GTAGTACTATCCGGATCTAGA	0.313000													66	39					1.25742e-37	2.41799e-37	0.003610	1	0
MIR548M	100313772	broad.mit.edu	37	X	94318156	94318156	+	RNA	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chrX:94318156C>A	ENST00000408260.1	-	0	69					NR_031667.1																						taggttggtgcaaaggtattt	0.333000													13	16					2.27111e-07	2.77282e-07	0.001368	1	0
FER1L6	654463	broad.mit.edu	37	8	125074109	125074109	+	Missense_Mutation	SNP	A	A	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr8:125074109A>G	ENST00000522917.1	+	25	3370	c.3164A>G	c.(3163-3165)gAg>gGg	p.E1055G	FER1L6_ENST00000399018.1_Missense_Mutation_p.E1055G|FER1L6-AS2_ENST00000520031.1_RNA	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	1055	C2 4.					integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			CCTGAGAACGAGCTTCTGCAC	0.567000													11	42					0	0	0.000978	0	0
IL17RA	23765	broad.mit.edu	37	22	17578800	17578800	+	Missense_Mutation	SNP	G	G	A	rs147495146	byFrequency	TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr22:17578800G>A	ENST00000319363.6	+	3	410	c.277G>A	c.(277-279)Gtg>Atg	p.V93M	IL17RA_ENST00000477874.1_3'UTR	NM_014339.5	NP_055154.3	Q96F46	I17RA_HUMAN	interleukin 17 receptor A	93					fibroblast activation|positive regulation of interleukin-23 production	integral to plasma membrane	interleukin-17 receptor activity			endometrium(2)|large_intestine(8)|lung(16)|ovary(1)|skin(2)|stomach(1)	30		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)		Colorectal(9;0.241)		CCTGTTCCCCGTGGCTCACAT	0.612000													28	31					0	0	0.008361	0	0
TACC2	10579	broad.mit.edu	37	10	123987514	123987514	+	Silent	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr10:123987514G>T	ENST00000369005.1	+	14	8227	c.7887G>T	c.(7885-7887)gcG>gcT	p.A2629A	TACC2_ENST00000369001.1_Silent_p.A333A|TACC2_ENST00000260733.3_Silent_p.A707A|TACC2_ENST00000368999.1_Silent_p.A719A|TACC2_ENST00000358010.1_Silent_p.A775A|TACC2_ENST00000515603.1_Silent_p.A2584A|TACC2_ENST00000453444.2_Silent_p.A2633A|TACC2_ENST00000360561.3_Silent_p.A707A|TACC2_ENST00000369004.3_Silent_p.A719A|TACC2_ENST00000334433.3_Silent_p.A2629A|TACC2_ENST00000369000.1_Silent_p.A329A|TACC2_ENST00000515273.1_Silent_p.A2633A|TACC2_ENST00000513429.1_Silent_p.A775A	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	2629						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				CTTCAGAAGCGATTGAAATTG	0.572000													99	56					9.07443e-57	1.77086e-56	0.003610	1	0
KCNB1	3745	broad.mit.edu	37	20	47989796	47989796	+	Silent	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr20:47989796G>T	ENST00000371741.4	-	2	2467	c.2301C>A	c.(2299-2301)ctC>ctA	p.L767L		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	767					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			CCACACTGTAGAGCAGCTGTC	0.562000													203	226					1.9191e-90	3.79107e-90	0.003610	1	0
RPTN	126638	broad.mit.edu	37	1	152127334	152127334	+	Silent	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr1:152127334G>T	ENST00000316073.3	-	3	2305	c.2241C>A	c.(2239-2241)acC>acA	p.T747T		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	747	Gln-rich.					proteinaceous extracellular matrix	calcium ion binding			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						CATGTTCATGGGTTTGTCTGT	0.522000													144	218					2.40396e-54	4.68498e-54	0.003610	1	0
CAMK2D	817	broad.mit.edu	37	4	114680554	114680554	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr4:114680554C>A	ENST00000454265.2	-	2	940	c.82G>T	c.(82-84)Gtg>Ttg	p.V28L	CAMK2D_ENST00000514328.1_Missense_Mutation_p.V28L|CAMK2D_ENST00000505990.1_Missense_Mutation_p.V28L|CAMK2D_ENST00000418639.2_Missense_Mutation_p.V28L|CAMK2D_ENST00000394526.2_Missense_Mutation_p.V28L|CAMK2D_ENST00000515496.1_Missense_Mutation_p.V28L|CAMK2D_ENST00000296402.5_Missense_Mutation_p.V28L|CAMK2D_ENST00000508738.1_Missense_Mutation_p.V28L|CAMK2D_ENST00000379773.2_Missense_Mutation_p.V28L|CAMK2D_ENST00000394524.3_Missense_Mutation_p.V28L|CAMK2D_ENST00000394522.3_Missense_Mutation_p.V28L|CAMK2D_ENST00000509907.1_5'UTR|CAMK2D_ENST00000342666.5_Missense_Mutation_p.V28L|CAMK2D_ENST00000429180.1_Missense_Mutation_p.V28L|CAMK2D_ENST00000511664.1_Missense_Mutation_p.V28L			Q13557	KCC2D_HUMAN	calcium/calmodulin-dependent protein kinase II delta	28	Protein kinase.				interferon-gamma-mediated signaling pathway|regulation of cell growth|synaptic transmission	calcium- and calmodulin-dependent protein kinase complex|cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	13		Ovarian(17;0.00369)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000271)		CATCTTCTCACCACTGAGAAT	0.328000													36	76					1.47197e-15	2.30672e-15	0.007835	1	0
STT3B	201595	broad.mit.edu	37	3	31638349	31638349	+	Silent	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr3:31638349C>T	ENST00000295770.2	+	4	980	c.771C>T	c.(769-771)ttC>ttT	p.F257F	STT3B_ENST00000453168.1_3'UTR	NM_178862.1	NP_849193.1	Q8TCJ2	STT3B_HUMAN	STT3B, subunit of the oligosaccharyltransferase complex (catalytic)	257					protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding			autonomic_ganglia(1)|biliary_tract(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	19						TATCCTATTTCTATATGGTAA	0.313000													4	39					0	0	0.009096	0	0
CDH8	1006	broad.mit.edu	37	16	61687943	61687943	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr16:61687943C>A	ENST00000577390.1	-	12	2923	c.1969G>T	c.(1969-1971)Gat>Tat	p.D657Y	CDH8_ENST00000299345.6_Missense_Mutation_p.D657Y|CDH8_ENST00000577730.1_Missense_Mutation_p.D657Y	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	657					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		ACGTCTTCATCATCTTTGATA	0.403000													25	60					1.96895e-08	2.5031e-08	0.002780	1	0
NFRKB	4798	broad.mit.edu	37	11	129745269	129745269	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr11:129745269C>G	ENST00000446488.3	-	17	1940	c.1837G>C	c.(1837-1839)Gat>Cat	p.D613H	NFRKB_ENST00000524746.1_Missense_Mutation_p.D613H|NFRKB_ENST00000524794.1_Missense_Mutation_p.D638H|NFRKB_ENST00000304521.5_Missense_Mutation_p.D613H	NM_001143835.1	NP_001137307.1	Q6P4R8	NFRKB_HUMAN	nuclear factor related to kappaB binding protein	613					DNA recombination|DNA repair|inflammatory response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Ino80 complex	DNA binding|protease binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(13)|ovary(4)|skin(3)|urinary_tract(1)	32	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184)		CTGGTGACATCTGGTGCAAGA	0.448000													5	9					0	0	0.001168	0	0
FOLH1B	219595	broad.mit.edu	37	11	89402584	89402584	+	RNA	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr11:89402584G>T	ENST00000532352.1	+	0	821							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B						proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						AAAATGGGTGGCTCAGCACCA	0.388000													10	34					0.00136819	0.00146534	0.001368	1	0
CSGALNACT2	55454	broad.mit.edu	37	10	43651075	43651075	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr10:43651075G>T	ENST00000374466.3	+	2	813	c.478G>T	c.(478-480)Gaa>Taa	p.E160*	CSGALNACT2_ENST00000374464.1_Nonsense_Mutation_p.E160*	NM_018590.3	NP_061060.3	Q8N6G5	CGAT2_HUMAN	chondroitin sulfate N-acetylgalactosaminyltransferase 2	160					chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process	Golgi cisterna membrane|integral to Golgi membrane	glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding			endometrium(12)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						ATTTCAATTGGAAATGGGTCT	0.408000													21	58					9.95505e-16	1.56514e-15	0.002299	1	0
HNRNPUL1	11100	broad.mit.edu	37	19	41774165	41774165	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr19:41774165C>A	ENST00000392006.3	+	2	506	c.333C>A	c.(331-333)taC>taA	p.Y111*	HNRNPUL1_ENST00000602130.1_Nonsense_Mutation_p.Y111*|HNRNPUL1_ENST00000594207.1_3'UTR|HNRNPUL1_ENST00000595018.1_Nonsense_Mutation_p.Y11*|HNRNPUL1_ENST00000378215.4_Nonsense_Mutation_p.Y68*|HNRNPUL1_ENST00000352456.3_Nonsense_Mutation_p.Y11*|HNRNPUL1_ENST00000263367.3_Nonsense_Mutation_p.Y22*|HNRNPUL1_ENST00000593587.1_Nonsense_Mutation_p.Y11*	NM_007040.3	NP_008971.2	Q9BUJ2	HNRL1_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 1	111					nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	enzyme binding|RNA binding	p.Y111Y(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	29						ACCAATTCTACGATACCCAAG	0.453000													13	29					0.00244969	0.00260437	0.002450	1	0
LPPR5	163404	broad.mit.edu	37	1	99470069	99470069	+	Silent	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr1:99470069G>T	ENST00000370188.3	-	1	519	c.159C>A	c.(157-159)ccC>ccA	p.P53P	RP5-896L10.1_ENST00000425113.1_RNA|LPPR5_ENST00000263177.4_Silent_p.P53P	NM_001010861.2	NP_001010861.1	Q32ZL2	LPPR5_HUMAN		53						integral to membrane	hydrolase activity										GGCCCGGGTAGGGTTTGCGGT	0.687000													7	23					5.18039e-06	6.01058e-06	0.003080	1	0
SLC35D3	340146	broad.mit.edu	37	6	137245529	137245529	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr6:137245529G>T	ENST00000331858.4	+	2	1111	c.946G>T	c.(946-948)Gcc>Tcc	p.A316S		NM_001008783.1	NP_001008783.1	Q5M8T2	S35D3_HUMAN	solute carrier family 35, member D3	316					carbohydrate transport	integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	13	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000136)|OV - Ovarian serous cystadenocarcinoma(155;0.00365)		GGACCTGGAGGCCCAGCCTCG	0.602000													13	13					9.31168e-06	1.07181e-05	0.001855	1	0
DDN	23109	broad.mit.edu	37	12	49390664	49390664	+	Missense_Mutation	SNP	A	A	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr12:49390664A>C	ENST00000421952.2	-	2	2016	c.1995T>G	c.(1993-1995)agT>agG	p.S665R		NM_015086.1	NP_055901.2	O94850	DEND_HUMAN	dendrin	665	Interaction with CD2AP and NPHS1 (By similarity).					dendritic spine membrane|endoplasmic reticulum membrane|nucleus|perikaryon				NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)	8						CCTCTGGCGAACTGTTTCCAA	0.607000											OREG0021778	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	39					0	0	0.004672	0	0
DSCAM	1826	broad.mit.edu	37	21	41684166	41684166	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr21:41684166C>A	ENST00000400454.1	-	9	2381	c.1904G>T	c.(1903-1905)cGg>cTg	p.R635L		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	635	Ig-like C2-type 7.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				AGGGATTGGCCGGCCATCCTT	0.522000													7	35					5.18039e-06	6.01058e-06	0.003080	1	0
MROH7	374977	broad.mit.edu	37	1	55136487	55136487	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr1:55136487C>T	ENST00000414150.2	+	7	1762	c.1484C>T	c.(1483-1485)aCc>aTc	p.T495I	MROH7_ENST00000454855.2_Missense_Mutation_p.T13I|MROH7_ENST00000409996.1_Missense_Mutation_p.T63I|MROH7_ENST00000395690.2_Missense_Mutation_p.T495I|MROH7_ENST00000545244.1_Missense_Mutation_p.T63I|MROH7_ENST00000421030.2_Missense_Mutation_p.T495I|MROH7_ENST00000339553.5_Missense_Mutation_p.T495I					maestro heat-like repeat family member 7																		ACCCAGCCCACCCTGGGCATG	0.622000													10	23					0	0	0.008291	0	0
WNK3	65267	broad.mit.edu	37	X	54337693	54337693	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chrX:54337693C>A	ENST00000354646.2	-	3	1007	c.569G>T	c.(568-570)aGa>aTa	p.R190I	WNK3_ENST00000375169.3_Missense_Mutation_p.R190I|WNK3_ENST00000375159.2_Missense_Mutation_p.R190I	NM_020922.4	NP_065973.2	Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3	190	Protein kinase.				intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation	adherens junction|tight junction	ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity			autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						TTCCTTGAATCTTTGCTGCTC	0.358000													10	32					2.27111e-07	2.77282e-07	0.001368	1	0
RYR3	6263	broad.mit.edu	37	15	34078113	34078113	+	Silent	SNP	G	G	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr15:34078113G>C	ENST00000389232.4	+	66	9589	c.9519G>C	c.(9517-9519)ctG>ctC	p.L3173L	RYR3_ENST00000415757.3_Silent_p.L3173L	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	3173					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GTCTCATCCTGGGCAACATTC	0.577000													25	94					0	0	0.003954	0	0
TRUB1	142940	broad.mit.edu	37	10	116719515	116719515	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr10:116719515G>T	ENST00000298746.3	+	4	533	c.472G>T	c.(472-474)Gct>Tct	p.A158S	TRUB1_ENST00000485065.1_3'UTR	NM_139169.4	NP_631908.1	Q8WWH5	TRUB1_HUMAN	TruB pseudouridine (psi) synthase family member 1	158					pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding			breast(2)|kidney(2)|large_intestine(1)|lung(5)|urinary_tract(2)	12		Colorectal(252;0.09)|Breast(234;0.174)|Lung NSC(174;0.245)		Epithelial(162;0.00879)|all cancers(201;0.0243)		ACTGGGGAAAGCTACTGATAC	0.413000													57	23					7.10663e-31	1.3399e-30	0.003610	1	0
ZNF365	22891	broad.mit.edu	37	10	64429973	64429973	+	Nonsense_Mutation	SNP	T	T	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr10:64429973T>A	ENST00000410046.3	+	8	1581	c.1301T>A	c.(1300-1302)tTg>tAg	p.L434*	ZNF365_ENST00000395251.1_Nonsense_Mutation_p.L188*|ZNF365_ENST00000395249.1_Nonsense_Mutation_p.L40*	NM_199451.2	NP_955523.1	Q70YC4	TALAN_HUMAN	zinc finger protein 365	188										breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	Prostate(12;0.0297)|all_hematologic(501;0.228)					ATAGGCAAATTGACAATCATC	0.448000													61	138					0	0	0.003610	0	0
ZNF41	7592	broad.mit.edu	37	X	47308861	47308861	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chrX:47308861C>A	ENST00000377065.4	-	5	947	c.308G>T	c.(307-309)gGg>gTg	p.G103V	ZNF41_ENST00000313116.7_Missense_Mutation_p.G103V|ZNF41_ENST00000465311.1_5'UTR|ZNF41_ENST00000397050.2_Missense_Mutation_p.G113V	NM_153380.2	NP_700359.1	P51814	ZNF41_HUMAN	zinc finger protein 41	145	KRAB.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|upper_aerodigestive_tract(2)	24		all_lung(315;0.000129)				CTGCATTTTCCCAATAGCCTC	0.388000													6	13					8.12818e-05	9.0327e-05	0.001984	1	0
KCNJ12	3768	broad.mit.edu	37	17	21319527	21319527	+	Missense_Mutation	SNP	C	C	G	rs80022364	byFrequency	TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr17:21319527C>G	ENST00000583088.1	+	3	1768	c.873C>G	c.(871-873)gaC>gaG	p.D291E	KCNJ12_ENST00000331718.5_Missense_Mutation_p.D291E	NM_021012.4	NP_066292.2			potassium inwardly-rectifying channel, subfamily J, member 12											NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)		TGGAGACGGACGACTTTGAGA	0.617000										Prostate(3;0.18)			25	49					0	0	0.003954	0	0
SIGLEC12	89858	broad.mit.edu	37	19	52004799	52004799	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr19:52004799C>A	ENST00000291707.3	-	1	244	c.189G>T	c.(187-189)tgG>tgT	p.W63C		NM_053003.2	NP_443729.1	Q96PQ1	SIG12_HUMAN	sialic acid binding Ig-like lectin 12 (gene/pseudogene)	63	Ig-like V-type 1.				cell adhesion	integral to membrane	sugar binding			NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)	61		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)		CTGCCCGGAACCAGTAGCCAT	0.592000													15	17					3.45872e-05	3.9188e-05	0.004007	1	0
SMARCA2	6595	broad.mit.edu	37	9	2115969	2115969	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr9:2115969G>T	ENST00000382203.1	+	25	3813	c.3604G>T	c.(3604-3606)Ggc>Tgc	p.G1202C	SMARCA2_ENST00000349721.2_Missense_Mutation_p.G1202C|SMARCA2_ENST00000357248.2_Missense_Mutation_p.G1202C|SMARCA2_ENST00000382194.1_Missense_Mutation_p.G1202C			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	1202	Helicase C-terminal.				chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		GATCCAGGCGGGCATGTTTGA	0.532000											OREG0019074	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	17	8					1.67942e-08	2.14255e-08	0.006122	1	0
ATP8B3	148229	broad.mit.edu	37	19	1795942	1795942	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr19:1795942C>G	ENST00000539485.1	-	18	2220	c.1987G>C	c.(1987-1989)Gac>Cac	p.D663H	ATP8B3_ENST00000310127.6_Missense_Mutation_p.D663H|ATP8B3_ENST00000525591.1_Missense_Mutation_p.D616H			O60423	AT8B3_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 3	663					ATP biosynthetic process		ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ATGACCGTGTCGGCGCCCTTG	0.627000											OREG0025127	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	23	14					0	0	0.004656	0	0
AKAP6	9472	broad.mit.edu	37	14	33068651	33068651	+	Silent	SNP	C	C	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr14:33068651C>G	ENST00000280979.4	+	6	2675	c.2505C>G	c.(2503-2505)ctC>ctG	p.L835L	AKAP6_ENST00000557272.1_Silent_p.L835L|AKAP6_ENST00000557354.1_Silent_p.L835L	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	835					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		ATTGTGCTCTCAAGGAAGCTG	0.393000													29	84					0	0	0.002445	0	0
C8B	732	broad.mit.edu	37	1	57406634	57406634	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr1:57406634C>A	ENST00000543257.1	-	10	1696	c.1130G>T	c.(1129-1131)gGa>gTa	p.G377V	C8B_ENST00000535057.1_Missense_Mutation_p.G367V|C8B_ENST00000371237.4_Missense_Mutation_p.G429V	NM_001278543.1	NP_001265472.1	P07358	CO8B_HUMAN	complement component 8, beta polypeptide	429	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						ACTTGCCCCTCCTCGTACCAG	0.587000													19	21					7.07596e-05	7.89367e-05	0.006122	1	0
PDZRN4	29951	broad.mit.edu	37	12	41585260	41585260	+	Splice_Site	SNP	G	G	C			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr12:41585260G>C	ENST00000402685.2	+	2	657	c.648_splice	c.e2-1	p.D217_splice		NM_001164595.1	NP_001158067.1	Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	217							ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				TTTTTTCTAGGATGGAGAGCA	0.303000													9	46					0	0	0.006214	0	0
MYCBPAP	84073	broad.mit.edu	37	17	48603308	48603308	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr17:48603308G>T	ENST00000323776.5	+	14	2140	c.1978G>T	c.(1978-1980)Gcc>Tcc	p.A660S	MYCBPAP_ENST00000436259.2_Missense_Mutation_p.A623S	NM_032133.4	NP_115509.4	Q8TBZ2	MYBPP_HUMAN	MYCBP associated protein	623					cell differentiation|multicellular organismal development|spermatogenesis|synaptic transmission	cytoplasm|membrane	protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(8)|ovary(4)|pancreas(1)|skin(2)|urinary_tract(2)	31	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;1.23e-09)			GACCCTGCCCGCCAAGGCTGA	0.597000													47	121					1.61004e-24	2.93619e-24	0.003610	1	0
TECRL	253017	broad.mit.edu	37	4	65275046	65275046	+	Silent	SNP	G	G	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr4:65275046G>T	ENST00000381210.3	-	1	134	c.24C>A	c.(22-24)ctC>ctA	p.L8L	TECRL_ENST00000507440.1_Silent_p.L8L	NM_001010874.4	NP_001010874.2	Q5HYJ1	TECRL_HUMAN	trans-2,3-enoyl-CoA reductase-like	8					lipid metabolic process	cytoplasm|integral to membrane	oxidoreductase activity, acting on the CH-CH group of donors			endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1)	47						GTTCCGAAGCGAGGGACTTGT	0.393000													26	63					1.5548e-18	2.59971e-18	0.005443	1	0
AK4	205	broad.mit.edu	37	1	65614125	65614132	+	Frame_Shift_Del	DEL	GGCCGCCC	GGCCGCCC	-			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:65614125_65614132delGGCCGCCC	ENST00000395334.2	+	2	393_400	c.35_42delGGCCGCCC	c.(34-42)gfs	p.GPP12fs	AK4_ENST00000546702.1_Intron|AK4_ENST00000470888.2_3'UTR|AK4_ENST00000327299.7_Frame_Shift_Del_p.GPP12fs|AK4_ENST00000545314.1_Frame_Shift_Del_p.GPP12fs	NM_001005353.2	NP_001005353.1	P27144	KAD4_HUMAN	adenylate kinase 4	12						mitochondrial matrix	adenylate kinase activity|ATP binding|GTP binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|pancreas(1)|skin(1)	9						GTCATCCTCGGGCCGCCCGGCTCGGGCA	0.688													4	4	---	---	---	---					
IFI44	10561	broad.mit.edu	37	1	79120772	79120773	+	Frame_Shift_Ins	INS	-	-	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:79120772_79120773insT	ENST00000370747.4	+	4	653_654	c.568_569insT	c.(568-570)gctfs	p.A190fs	IFI44_ENST00000495254.1_3'UTR|IFI44_ENST00000545124.1_5'UTR	NM_006417.4	NP_006408.3	Q8TCB0	IFI44_HUMAN	interferon-induced protein 44	190					response to virus	cytoplasm				central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	21						AATACGAATTCTGCTGCTGGGT	0.455													21	44	---	---	---	---					
NPR1	4881	broad.mit.edu	37	1	153656220	153656220	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:153656220delC	ENST00000368680.3	+	7	1876	c.1404delC	c.(1402-1404)cafs	p.H468fs		NM_000906.3	NP_000897.3	P16066	ANPRA_HUMAN	natriuretic peptide receptor A/guanylate cyclase A (atrionatriuretic peptide receptor A)	468					body fluid secretion|intracellular signal transduction|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation		ATP binding|GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|peptide receptor activity, G-protein coupled|protein kinase activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(17)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)		Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Nesiritide(DB04899)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)|Nitroprusside(DB00325)	ctGCAGATCACCTTTCCACCC	0.507													30	59	---	---	---	---					
RAB25	57111	broad.mit.edu	37	1	156039504	156039507	+	Frame_Shift_Del	DEL	CTAC	CTAC	-			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:156039504_156039507delCTAC	ENST00000361084.5	+	4	717_720	c.476_479delCTAC	c.(475-480)tcfs	p.ST159fs	RAB25_ENST00000487325.1_3'UTR	NM_020387.2	NP_065120.2	P57735	RAB25_HUMAN	RAB25, member RAS oncogene family	159					positive regulation of cell proliferation|protein transport|pseudopodium organization|small GTPase mediated signal transduction	cytoplasmic membrane-bounded vesicle|pseudopodium membrane	GTP binding|identical protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	5	Hepatocellular(266;0.158)|all_neural(408;0.195)					GCCCTGGACTCTACCAATGTTGAG	0.471													151	220	---	---	---	---					
RYR2	6262	broad.mit.edu	37	1	237796954	237796954	+	Frame_Shift_Del	DEL	A	A	-			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:237796954delA	ENST00000366574.2	+	43	6949	c.6632delA	c.(6631-6633)cafs	p.Q2211fs	RYR2_ENST00000360064.6_Frame_Shift_Del_p.Q2209fs|RYR2_ENST00000542537.1_Frame_Shift_Del_p.Q2195fs	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2211	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AGGCAGAATCAAAAAGCTATG	0.358													20	83	---	---	---	---					
OR2T34	127068	broad.mit.edu	37	1	248738019	248738019	+	Frame_Shift_Del	DEL	T	T	-			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr1:248738019delT	ENST00000328782.2	-	1	61	c.40delA	c.(40-42)gcfs	p.S14fs		NM_001001821.1	NP_001001821.1	Q8NGX1	O2T34_HUMAN	olfactory receptor, family 2, subfamily T, member 34	14					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(6)|lung(28)|ovary(2)|skin(2)|stomach(3)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			AAATCAGTGCTTGCTGTTTGA	0.463													9	49	---	---	---	---					
PLB1	151056	broad.mit.edu	37	2	28766124	28766125	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr2:28766124_28766125insG	ENST00000422425.2	+	14	1002_1003	c.958_959insG	c.(958-960)gaafs	p.E320fs	PLB1_ENST00000327757.5_Frame_Shift_Ins_p.E309fs	NM_001170585.1	NP_001164056.1	Q6P1J6	PLB1_HUMAN	phospholipase B1	309	4 X 308-326 AA approximate repeats.				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					CTGGCATCTCTGGAATAGGATG	0.614													7	17	---	---	---	---					
CLIP4	79745	broad.mit.edu	37	2	29386781	29386782	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr2:29386781_29386782delCA	ENST00000320081.5	+	13	1874_1875	c.1619_1620delCA	c.(1618-1620)cfs	p.P540fs	CLIP4_ENST00000401617.2_Frame_Shift_Del_p.P433fs|CLIP4_ENST00000401605.1_Frame_Shift_Del_p.P540fs|CLIP4_ENST00000404424.1_Frame_Shift_Del_p.P540fs	NM_024692.4	NP_078968.3	Q8N3C7	CLIP4_HUMAN	CAP-GLY domain containing linker protein family, member 4	540	CAP-Gly 2.									endometrium(4)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(1)	26	Acute lymphoblastic leukemia(172;0.155)					AGCTGTTCTCCAAGATATGGAA	0.371													19	106	---	---	---	---					
TCF7L1	83439	broad.mit.edu	37	2	85531103	85531103	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr2:85531103delC	ENST00000282111.3	+	6	1019	c.744delC	c.(742-744)ctfs	p.L248fs		NM_031283.2	NP_112573.1	Q9HCS4	TF7L1_HUMAN	transcription factor 7-like 1 (T-cell specific, HMG-box)	248	Pro-rich.				chromatin organization|regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|skin(4)|upper_aerodigestive_tract(1)	18						CCCACCCCCTCGGCTGGCTCG	0.647													24	55	---	---	---	---					
SLC9A4	389015	broad.mit.edu	37	2	103124574	103124574	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr2:103124574delG	ENST00000295269.4	+	5	1692	c.1235delG	c.(1234-1236)cgfs	p.R412fs		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4	412					regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						AACCAGTTTCGGACTTTCCCC	0.448													29	115	---	---	---	---					
GALNT13	114805	broad.mit.edu	37	2	155102404	155102404	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr2:155102404delG	ENST00000392825.3	+	7	1333	c.766delG	c.(766-768)ggfs	p.G257fs	GALNT13_ENST00000409237.1_Frame_Shift_Del_p.G257fs	NM_052917.2	NP_443149.2	Q8IUC8	GLT13_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)	257						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						CATGACTTATGGGGGTTTTAA	0.413													26	71	---	---	---	---					
DNAH7	56171	broad.mit.edu	37	2	196825599	196825600	+	Frame_Shift_Ins	INS	-	-	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr2:196825599_196825600insT	ENST00000312428.6	-	18	2375_2376	c.2275_2276insA	c.(2275-2277)ccafs	p.P759fs		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	759	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						GCCATCTTGGATTTTTTTACGT	0.366													18	88	---	---	---	---					
KCNH8	131096	broad.mit.edu	37	3	19295164	19295164	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr3:19295164delC	ENST00000328405.2	+	2	361	c.95delC	c.(94-96)gcfs	p.A32fs		NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8	32	PAS.					integral to membrane	two-component sensor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						TTCATCCTTGCCAATGCCCAG	0.423													59	41	---	---	---	---					
TGM4	7047	broad.mit.edu	37	3	44945424	44945425	+	Frame_Shift_Ins	INS	-	-	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr3:44945424_44945425insA	ENST00000296125.4	+	9	1088_1089	c.1020_1021insA	c.(1018-1023)ccagggfs	p.G341fs		NM_003241.3	NP_003232.2	P49221	TGM4_HUMAN	transglutaminase 4	341					peptide cross-linking|protein polyamination		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	38				BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	L-Glutamine(DB00130)	CGGATCTGCCCAAGGGCTACGA	0.634													54	36	---	---	---	---					
ZIC1	7545	broad.mit.edu	37	3	147128309	147128309	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr3:147128309delC	ENST00000282928.4	+	1	1139	c.410delC	c.(409-411)gcfs	p.A138fs		NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN	Zic family member 1	138					behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.A137E(1)|p.A137D(1)		central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						CACACGGACGCCGCGGGCCAC	0.721													19	10	---	---	---	---					
SERPINI2	5276	broad.mit.edu	37	3	167189475	167189475	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr3:167189475delG	ENST00000476257.1	-	3	446	c.148delC	c.(148-150)ttfs	p.L50fs	SERPINI2_ENST00000264677.4_Frame_Shift_Del_p.L50fs|SERPINI2_ENST00000471111.1_Frame_Shift_Del_p.L50fs|SERPINI2_ENST00000461846.1_Frame_Shift_Del_p.L50fs|SERPINI2_ENST00000465031.1_5'UTR			O75830	SPI2_HUMAN	serpin peptidase inhibitor, clade I (pancpin), member 2	50					cellular component movement|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(20)|prostate(1)|skin(5)|urinary_tract(1)	41						GTTATTCCAAGGGGTGAAAAT	0.398													49	89	---	---	---	---					
AMTN	401138	broad.mit.edu	37	4	71394929	71394930	+	Splice_Site	INS	-	-	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr4:71394929_71394930insA	ENST00000339336.4	+	7	487		c.e7+2		AMTN_ENST00000504451.1_Splice_Site	NM_212557.2	NP_997722.1	Q6UX39	AMTN_HUMAN	amelotin						biomineral tissue development|cell adhesion|odontogenesis of dentine-containing tooth	basal lamina|cell-cell junction				NS(3)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(3)|skin(1)	19			Lung(101;0.235)			GAGGAATTGGTAAAAAAAATAA	0.267													12	13	---	---	---	---					
SLC9A3	6550	broad.mit.edu	37	5	491985	491985	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr5:491985delC	ENST00000264938.3	-	2	422	c.413delG	c.(412-414)gcfs	p.G138fs	SLC9A3_ENST00000514375.1_Frame_Shift_Del_p.G138fs	NM_004174.2	NP_004165.2	P48764	SL9A3_HUMAN	solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3	138						cell surface|integral to membrane	sodium:hydrogen antiporter activity			NS(2)|biliary_tract(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(16)|prostate(3)|skin(2)|urinary_tract(1)	37			Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			CCCCAGGTTGCCGAAGAAGAG	0.632													4	9	---	---	---	---					
ARSK	153642	broad.mit.edu	37	5	94927329	94927329	+	Splice_Site	DEL	G	G	-			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr5:94927329delG	ENST00000380009.4	+	6	1301	c.1096_splice	c.e6+1	p.D366_splice		NM_198150.2	NP_937793.1	Q6UWY0	ARSK_HUMAN	arylsulfatase family, member K	366						extracellular region	arylsulfatase activity|metal ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(1)	16		all_cancers(142;3.38e-06)|all_epithelial(76;6.57e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473)		all cancers(79;6.5e-16)		TACCATGCTTGGTAAGTAATG	0.393													27	43	---	---	---	---					
FLJ16171	441116	broad.mit.edu	37	5	174353430	174353431	+	RNA	INS	-	-	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr5:174353430_174353431insA	ENST00000377300.3	-	0	1281					NR_046113.1																						AATTGCCAGCCAAAAAAAACCA	0.371													2	4	---	---	---	---					
CTC-338M12.9	0	broad.mit.edu	37	5	180708697	180708698	+	RNA	INS	-	-	A	rs1815381		TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr5:180708697_180708698insA	ENST00000412295.2	+	0	238																											ggggcggtaggcgggggctgga	0.718													4	2	---	---	---	---					
TNXB	7148	broad.mit.edu	37	6	32026081	32026081	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr6:32026081delC	ENST00000375244.3	-	22	7780	c.7579delG	c.(7579-7581)agfs	p.E2527fs	TNXB_ENST00000375247.2_Frame_Shift_Del_p.E2527fs			P22105	TENX_HUMAN	tenascin XB	2587	Fibronectin type-III 17.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						ACTGTCAGCTCCCCCAGGAGA	0.627													12	51	---	---	---	---					
TRERF1	55809	broad.mit.edu	37	6	42196333	42196333	+	Frame_Shift_Del	DEL	T	T	-			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr6:42196333delT	ENST00000541110.1	-	18	3981	c.3413delA	c.(3412-3414)agfs	p.K1138fs	TRERF1_ENST00000340840.2_Frame_Shift_Del_p.K1047fs|TRERF1_ENST00000372917.4_Frame_Shift_Del_p.K1047fs|TRERF1_ENST00000372922.4_Frame_Shift_Del_p.K1118fs|TRERF1_ENST00000354325.2_Frame_Shift_Del_p.K1035fs			Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	1118	Interacts with CREBBP.				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CTTCTGAGCCTTTTGCCTCTG	0.542													7	1593	---	---	---	---					
SCAF8	22828	broad.mit.edu	37	6	155154520	155154520	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr6:155154520delG	ENST00000367178.3	+	20	4383	c.3807delG	c.(3805-3807)gafs	p.E1269fs	TIAM2_ENST00000461783.3_5'UTR|SCAF8_ENST00000367186.4_Frame_Shift_Del_p.E1335fs|SCAF8_ENST00000417268.1_Frame_Shift_Del_p.E1269fs	NM_014892.3	NP_055707.3	Q9UPN6	SCAF8_HUMAN	SR-related CTD-associated factor 8	1269					mRNA processing|RNA splicing	nuclear matrix|spliceosomal complex	nucleotide binding|RNA binding|RNA polymerase core enzyme binding			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(15)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	46						CAGAAACTGAGGGGACATAAT	0.363													8	45	---	---	---	---					
CDK14	5218	broad.mit.edu	37	7	90419930	90419930	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr7:90419930delG	ENST00000406263.1	+	4	811	c.369delG	c.(367-369)cafs	p.Q123fs	CDK14_ENST00000265741.3_Frame_Shift_Del_p.Q151fs|CDK14_ENST00000436577.2_Frame_Shift_Del_p.Q40fs|CDK14_ENST00000380050.3_Frame_Shift_Del_p.Q169fs			O94921	CDK14_HUMAN	cyclin-dependent kinase 14	169					cell division|G2/M transition of mitotic cell cycle|regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytoplasmic cyclin-dependent protein kinase holoenzyme complex|nucleus|plasma membrane	ATP binding|cyclin binding|cyclin-dependent protein kinase activity			breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(12)|ovary(1)|skin(4)	32						TCAGGCTGCAGGAAGAAGAAG	0.393													132	65	---	---	---	---					
MUC17	140453	broad.mit.edu	37	7	100678729	100678729	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr7:100678729delC	ENST00000306151.4	+	3	4096	c.4032delC	c.(4030-4032)gtfs	p.V1344fs		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1344	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GTATACCTGTCAACACCACAC	0.458													155	78	---	---	---	---					
GIMAP7	168537	broad.mit.edu	37	7	150217654	150217654	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr7:150217654delG	ENST00000313543.4	+	2	749	c.592delG	c.(592-594)ggfs	p.G198fs		NM_153236.3	NP_694968.1	Q8NHV1	GIMA7_HUMAN	GTPase, IMAP family member 7	198							GTP binding			breast(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	17			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GTGCAACGAAGGGGCTTACTT	0.438													29	16	---	---	---	---					
ATRNL1	26033	broad.mit.edu	37	10	117027900	117027900	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr10:117027900delG	ENST00000355044.3	+	13	2205	c.2079delG	c.(2077-2079)tcfs	p.S693fs		NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	693	PSI 2.					integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		AATGCATTTCGGCAAATAGTA	0.403													15	56	---	---	---	---					
OR4A5	81318	broad.mit.edu	37	11	51411649	51411650	+	Frame_Shift_Ins	INS	-	-	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr11:51411649_51411650insA	ENST00000319760.6	-	1	798_799	c.746_747insT	c.(745-747)gccfs	p.A249fs		NM_001005272.3	NP_001005272.3	Q8NH83	OR4A5_HUMAN	olfactory receptor, family 4, subfamily A, member 5	249					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49		all_lung(304;0.236)				AAATACAGGGTACAAAAAAGAG	0.406													25	47	---	---	---	---					
OR8K1	390157	broad.mit.edu	37	11	56114033	56114035	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr11:56114033_56114035delCTT	ENST00000279783.2	+	1	613_615	c.519_521delCTT	c.(517-522)tcc>tc	p.SF173del		NM_001002907.1	NP_001002907.1	Q8NGG5	OR8K1_HUMAN	olfactory receptor, family 8, subfamily K, member 1	173					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(8)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33	Esophageal squamous(21;0.00448)					TTAAACTGTCCTTCTGTGGCTCA	0.355										HNSCC(65;0.19)			21	79	---	---	---	---					
KIAA1467	57613	broad.mit.edu	37	12	13211385	13211386	+	Splice_Site	INS	-	-	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr12:13211385_13211386insT	ENST00000197268.8	+	3	554_555	c.433_splice	c.e3-1	p.G145_splice		NM_020853.1	NP_065904.1	A2RU67	K1467_HUMAN	KIAA1467	145						integral to membrane				NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(4)	36		Prostate(47;0.184)		BRCA - Breast invasive adenocarcinoma(232;0.157)		TGTATAACAGGTGGGGACCTGT	0.475													79	275	---	---	---	---					
GRIN2B	2904	broad.mit.edu	37	12	13720177	13720177	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr12:13720177delC	ENST00000279593.3	-	12	2589	c.2380delG	c.(2380-2382)ctfs	p.A794fs		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	794					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	AGCCAGAGAGCTTCCAGTTCT	0.488													25	23	---	---	---	---					
LIN7A	8825	broad.mit.edu	37	12	81239540	81239540	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr12:81239540delC	ENST00000552864.1	-	4	654	c.452delG	c.(451-453)aafs	p.R151fs		NM_004664.2	NP_004655.1	O14910	LIN7A_HUMAN	lin-7 homolog A (C. elegans)	151	PDZ.				exocytosis|protein complex assembly|protein transport	basolateral plasma membrane|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	L27 domain binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|skin(2)	15						CTGGTCTCCTCTTTTGAGGCC	0.428													32	48	---	---	---	---					
CUX2	23316	broad.mit.edu	37	12	111757899	111757899	+	Frame_Shift_Del	DEL	A	A	-			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr12:111757899delA	ENST00000261726.6	+	17	2240	c.2086delA	c.(2086-2088)tcfs	p.I696fs		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	696						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						CATCAAGAGCATCCTGGAGCA	0.726													2	4	---	---	---	---					
PARP4	143	broad.mit.edu	37	13	25009604	25009605	+	Frame_Shift_Ins	INS	-	-	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr13:25009604_25009605insA	ENST00000381989.3	-	31	3779_3780	c.3674_3675insT	c.(3673-3675)tgcfs	p.C1225fs		NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	1225					cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport	cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule	DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		CAGAGGATGCTAAAAGAGACTG	0.376													11	63	---	---	---	---					
FNDC3A	22862	broad.mit.edu	37	13	49710605	49710605	+	Frame_Shift_Del	DEL	A	A	-			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr13:49710605delA	ENST00000492622.2	+	6	933	c.628delA	c.(628-630)aafs	p.K210fs	FNDC3A_ENST00000398316.3_Frame_Shift_Del_p.K154fs|FNDC3A_ENST00000541916.1_Frame_Shift_Del_p.K210fs	NM_001079673.1	NP_001073141.1	Q9Y2H6	FND3A_HUMAN	fibronectin type III domain containing 3A	210						Golgi membrane|integral to membrane				endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1)	41		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)		ATCACCCCAGAAATGCCCTTC	0.393													47	39	---	---	---	---					
MAP4K5	11183	broad.mit.edu	37	14	50952308	50952308	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr14:50952308delC	ENST00000013125.4	-	5	628	c.310delG	c.(310-312)atfs	p.D104fs	MAP4K5_ENST00000557578.1_5'UTR	NM_006575.4|NM_198794.2	NP_006566.2|NP_942089.1	Q9Y4K4	M4K5_HUMAN	mitogen-activated protein kinase kinase kinase kinase 5	104	Protein kinase.				activation of JUN kinase activity	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15	all_epithelial(31;0.000415)|Breast(41;0.0102)					TGGTAAATATCTTGAAGTGAT	0.299													2	4	---	---	---	---					
SNHG14	104472715	broad.mit.edu	37	15	25416085	25416085	+	RNA	DEL	G	G	-			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr15:25416085delG	ENST00000549301.1	+	0	327				SNHG14_ENST00000553149.1_RNA																							GAGCAACCCCGTGAGGCAGTC	0.637													17	12	---	---	---	---					
SNHG14	104472715	broad.mit.edu	37	15	25422074	25422075	+	RNA	INS	-	-	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr15:25422074_25422075insT	ENST00000441592.2	+	0	224																											CTAGGTGAGAATTTTGGAAGGG	0.510													112	92	---	---	---	---					
MGA	23269	broad.mit.edu	37	15	41961546	41961547	+	Frame_Shift_Ins	INS	-	-	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr15:41961546_41961547insT	ENST00000219905.7	+	2	635_636	c.454_455insT	c.(454-456)tttfs	p.F152fs	MGA_ENST00000389936.4_Frame_Shift_Ins_p.F152fs|MGA_ENST00000566586.1_Frame_Shift_Ins_p.F152fs|MGA_ENST00000545763.1_Frame_Shift_Ins_p.F152fs|MGA_ENST00000570161.1_Frame_Shift_Ins_p.F152fs|MGA_ENST00000568630.1_Intron	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN	MGA, MAX dimerization protein	152						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		TGAACCTCATGTTTTGGGGAGG	0.401													91	97	---	---	---	---					
SLC24A5	283652	broad.mit.edu	37	15	48434470	48434471	+	Frame_Shift_Ins	INS	-	-	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr15:48434470_48434471insA	ENST00000341459.3	+	9	1498_1499	c.1425_1426insA	c.(1423-1428)tatgggfs	p.YG475fs	MYEF2_ENST00000324324.7_3'UTR|MYEF2_ENST00000267836.6_3'UTR|SLC24A5_ENST00000449382.2_Frame_Shift_Ins_p.YG415fs	NM_205850.2	NP_995322.1	Q71RS6	NCKX5_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 5	475					response to stimulus	integral to membrane|melanosome|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|skin(1)|upper_aerodigestive_tract(1)	27		all_lung(180;0.00217)		all cancers(107;3.29e-10)|GBM - Glioblastoma multiforme(94;7.32e-07)		TATTATCATACTTGGGGCTTGC	0.337													34	25	---	---	---	---					
ZNF598	90850	broad.mit.edu	37	16	2049882	2049883	+	In_Frame_Ins	INS	-	-	TCC	rs61746014	by1000genomes	TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr16:2049882_2049883insTCC	ENST00000563630.1	-	9	1744_1745	c.1502_1503insGGA	c.(1501-1503)ggg>gGGAgg	p.501_502insR	ZNF598_ENST00000431526.1_In_Frame_Ins_p.556_557insR|ZNF598_ENST00000562103.1_In_Frame_Ins_p.501_502insR			Q86UK7	ZN598_HUMAN	zinc finger protein 598	556						intracellular	zinc ion binding	p.E555_D556insE(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|skin(1)|urinary_tract(1)	16						CCGGGCCGCCGTCCTCCTCCTC	0.703													7	10	---	---	---	---					
ALKBH6	84964	broad.mit.edu	37	19	36504245	36504245	+	Splice_Site	DEL	C	C	-			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr19:36504245delC	ENST00000486389.1	-	2	803		c.e2+1		ALKBH6_ENST00000495116.2_Intron|ALKBH6_ENST00000485128.1_Splice_Site|ALKBH6_ENST00000252984.7_Splice_Site|AC002116.8_ENST00000473572.2_RNA|ALKBH6_ENST00000378875.3_Splice_Site			Q3KRA9	ALKB6_HUMAN	alkB, alkylation repair homolog 6 (E. coli)							cytoplasm|nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|skin(1)	9	all_lung(56;1.35e-06)|Lung NSC(56;2.15e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			GTTCTGACAACCTGCTCCACT	0.557													26	47	---	---	---	---					
HAO1	54363	broad.mit.edu	37	20	7895047	7895048	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr20:7895047_7895048insG	ENST00000378789.3	-	3	359_360	c.308_309insC	c.(307-309)aggfs	p.R103fs		NM_017545.2	NP_060015.1	Q9UJM8	HAOX1_HUMAN	hydroxyacid oxidase (glycolate oxidase) 1	103	FMN hydroxy acid dehydrogenase.				cellular nitrogen compound metabolic process|fatty acid alpha-oxidation|glycolate catabolic process|glyoxylate metabolic process	peroxisomal matrix	FMN binding|glycolate oxidase activity|glyoxylate oxidase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						ACATCATGCCCGTTCCCAGGGA	0.510													8	17	---	---	---	---					
LAMA5	3911	broad.mit.edu	37	20	60887362	60887363	+	Frame_Shift_Del	DEL	GC	GC	-			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr20:60887362_60887363delGC	ENST00000252999.3	-	69	9436_9437	c.9370_9371delGC	c.(9370-9372)cfs	p.A3124fs		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	3124	Laminin G-like 3.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GAAAGTCATGGCGCGCCCCACC	0.693													7	18	---	---	---	---					
MOV10L1	54456	broad.mit.edu	37	22	50553643	50553643	+	Frame_Shift_Del	DEL	A	A	-			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chr22:50553643delA	ENST00000262794.5	+	8	1310	c.1227delA	c.(1225-1227)ggfs	p.G409fs	MOV10L1_ENST00000540615.1_Frame_Shift_Del_p.G389fs|MOV10L1_ENST00000395843.1_5'UTR|MOV10L1_ENST00000545383.1_Frame_Shift_Del_p.G409fs|MOV10L1_ENST00000395858.3_Frame_Shift_Del_p.G409fs	NM_018995.2	NP_061868.1	Q9BXT6	M10L1_HUMAN	Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse)	409					germ cell development|multicellular organismal development|spermatogenesis		ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding			breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		CTCCAGGGGGAAAAACCTTCA	0.483													29	182	---	---	---	---					
CHDC2	286464	broad.mit.edu	37	X	36117970	36117993	+	In_Frame_Del	DEL	ACAGATGTATTTCTACAGATATAC	ACAGATGTATTTCTACAGATATAC	-	rs113466978		TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chrX:36117970_36117993delACAGATGTATTTCTACAGATATAC	ENST00000378660.1	+	7	1014_1037	c.826_849delACAGATGTATTTCTACAGATATAC	c.(826-849)del	p.TDVFLQIY276del	CHDC2_ENST00000313548.4_In_Frame_Del_p.TDVFLQIY276del					calponin homology domain containing 2									p.D277G(1)									ACGGGCATGGACAGATGTATTTCTACAGATATACAAGGTAACAT	0.330													7	69	---	---	---	---					
MAGED1	9500	broad.mit.edu	37	X	51644748	51644749	+	Frame_Shift_Ins	INS	-	-	G	rs3199687	byFrequency	TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chrX:51644748_51644749insG	ENST00000375695.2	+	13	2380_2381	c.2227_2228insG	c.(2227-2229)ggcfs	p.G743fs	MAGED1_ENST00000375772.3_Frame_Shift_Ins_p.G687fs|MAGED1_ENST00000326587.7_Frame_Shift_Ins_p.G687fs|MAGED1_ENST00000375722.1_Frame_Shift_Ins_p.G687fs|MAGED1_ENST00000494718.1_3'UTR	NM_001005333.1	NP_001005333.1	Q9Y5V3	MAGD1_HUMAN	melanoma antigen family D, 1	687					apoptosis|induction of apoptosis by extracellular signals|negative regulation of epithelial cell proliferation|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent	cytoplasm|plasma membrane|protein complex	protein binding			breast(1)|endometrium(4)|large_intestine(10)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	32	Ovarian(276;0.236)					GGCCGAAGCCCGGGCTGAAGCA	0.574										Multiple Myeloma(10;0.10)			15	23	---	---	---	---					
ZXDB	158586	broad.mit.edu	37	X	57619478	57619478	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chrX:57619478delC	ENST00000374888.1	+	1	1210	c.997delC	c.(997-999)ccfs	p.P333fs		NM_007157.3	NP_009088.1	P98169	ZXDB_HUMAN	zinc finger, X-linked, duplicated B	333	Required for interaction with ZXDC (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(2)|skin(6)	27						CAAACTGCGGCCCTTTGGCTG	0.597													9	32	---	---	---	---					
PJA1	64219	broad.mit.edu	37	X	68381849	68381849	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chrX:68381849delG	ENST00000361478.1	-	2	1610	c.1233delC	c.(1231-1233)gcfs	p.A411fs	PJA1_ENST00000374583.1_Frame_Shift_Del_p.A411fs|PJA1_ENST00000374571.4_Frame_Shift_Del_p.A356fs|PJA1_ENST00000374584.3_Frame_Shift_Del_p.A223fs	NM_001032396.2|NM_022368.4|NM_145119.3	NP_001027568.1|NP_071763.2|NP_660095.1	Q8NG27	PJA1_HUMAN	praja ring finger 1, E3 ubiquitin protein ligase	411							zinc ion binding			endometrium(3)|large_intestine(5)|lung(12)|ovary(1)	21						TGCCAGTGCTGGCACTCACCT	0.622													12	35	---	---	---	---					
EMD	2010	broad.mit.edu	37	X	153608718	153608718	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	f5a0150c-19b8-43ad-8e1a-7c2608c388ae	g.chrX:153608718delC	ENST00000369842.4	+	4	678	c.390delC	c.(388-390)ttfs	p.F130fs	EMD_ENST00000369835.3_Frame_Shift_Del_p.F95fs|EMD_ENST00000492448.1_3'UTR	NM_000117.2	NP_000108.1	P50402	EMD_HUMAN	emerin	130	Interaction with F-actin (Probable).				cellular response to growth factor stimulus|muscle contraction|muscle organ development|negative regulation of catenin import into nucleus|negative regulation of fibroblast proliferation|positive regulation of protein export from nucleus|regulation of canonical Wnt receptor signaling pathway	endoplasmic reticulum|integral to membrane|microtubule|nuclear inner membrane|nuclear outer membrane	actin binding|beta-tubulin binding			lung(5)	5	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)					CTGACGCTTTCCATCACCAGG	0.587													18	41	---	---	---	---					
AK4	205	broad.mit.edu	37	1	65614125	65614132	+	Frame_Shift_Del	DEL	GGCCGCCC	GGCCGCCC	-			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr1:65614125_65614132delGGCCGCCC	ENST00000395334.2	+	2	393_400	c.35_42delGGCCGCCC	c.(34-42)gfs	p.GPP12fs	AK4_ENST00000546702.1_Intron|AK4_ENST00000545314.1_Frame_Shift_Del_p.GPP12fs|AK4_ENST00000470888.2_3'UTR|AK4_ENST00000327299.7_Frame_Shift_Del_p.GPP12fs	NM_001005353.2	NP_001005353.1	P27144	KAD4_HUMAN	adenylate kinase 4	12						mitochondrial matrix	adenylate kinase activity|ATP binding|GTP binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|pancreas(1)|skin(1)	9						GTCATCCTCGGGCCGCCCGGCTCGGGCA	0.688													4	4	---	---	---	---					
IFI44	10561	broad.mit.edu	37	1	79120772	79120773	+	Frame_Shift_Ins	INS	-	-	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr1:79120772_79120773insT	ENST00000370747.4	+	4	653_654	c.568_569insT	c.(568-570)gctfs	p.A190fs	IFI44_ENST00000545124.1_5'UTR|IFI44_ENST00000495254.1_3'UTR	NM_006417.4	NP_006408.3	Q8TCB0	IFI44_HUMAN	interferon-induced protein 44	190					response to virus	cytoplasm				central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	21						AATACGAATTCTGCTGCTGGGT	0.455													21	44	---	---	---	---					
NPR1	4881	broad.mit.edu	37	1	153656220	153656220	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr1:153656220delC	ENST00000368680.3	+	7	1876	c.1404delC	c.(1402-1404)cafs	p.H468fs		NM_000906.3	NP_000897.3	P16066	ANPRA_HUMAN	natriuretic peptide receptor A/guanylate cyclase A (atrionatriuretic peptide receptor A)	468					body fluid secretion|intracellular signal transduction|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation		ATP binding|GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|peptide receptor activity, G-protein coupled|protein kinase activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(17)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)		Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Nesiritide(DB04899)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)|Nitroprusside(DB00325)	ctGCAGATCACCTTTCCACCC	0.507													30	59	---	---	---	---					
RAB25	57111	broad.mit.edu	37	1	156039504	156039507	+	Frame_Shift_Del	DEL	CTAC	CTAC	-			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr1:156039504_156039507delCTAC	ENST00000361084.5	+	4	717_720	c.476_479delCTAC	c.(475-480)tcfs	p.ST159fs	RAB25_ENST00000487325.1_3'UTR	NM_020387.2	NP_065120.2	P57735	RAB25_HUMAN	RAB25, member RAS oncogene family	159					positive regulation of cell proliferation|protein transport|pseudopodium organization|small GTPase mediated signal transduction	cytoplasmic membrane-bounded vesicle|pseudopodium membrane	GTP binding|identical protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	5	Hepatocellular(266;0.158)|all_neural(408;0.195)					GCCCTGGACTCTACCAATGTTGAG	0.471													151	220	---	---	---	---					
RYR2	6262	broad.mit.edu	37	1	237796954	237796954	+	Frame_Shift_Del	DEL	A	A	-			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr1:237796954delA	ENST00000366574.2	+	43	6949	c.6632delA	c.(6631-6633)cafs	p.Q2211fs	RYR2_ENST00000360064.6_Frame_Shift_Del_p.Q2209fs|RYR2_ENST00000542537.1_Frame_Shift_Del_p.Q2195fs	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2211	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AGGCAGAATCAAAAAGCTATG	0.358													20	83	---	---	---	---					
FMN2	56776	broad.mit.edu	37	1	240255569	240255571	+	In_Frame_Del	DEL	GGC	GGC	-	rs71929261		TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr1:240255569_240255571delGGC	ENST00000319653.9	+	1	390_392	c.160_162delGGC	c.(160-162)del	p.G59del		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	59					actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	p.G197delG(1)		NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			GGGGGGAgggggcggcggcggcg	0.665													6	6	---	---	---	---					
OR2T34	127068	broad.mit.edu	37	1	248738019	248738019	+	Frame_Shift_Del	DEL	T	T	-			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr1:248738019delT	ENST00000328782.2	-	1	61	c.40delA	c.(40-42)gcfs	p.S14fs		NM_001001821.1	NP_001001821.1	Q8NGX1	O2T34_HUMAN	olfactory receptor, family 2, subfamily T, member 34	14					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(6)|lung(28)|ovary(2)|skin(2)|stomach(3)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			AAATCAGTGCTTGCTGTTTGA	0.463													9	49	---	---	---	---					
PLB1	151056	broad.mit.edu	37	2	28766124	28766125	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr2:28766124_28766125insG	ENST00000422425.2	+	14	1002_1003	c.958_959insG	c.(958-960)gaafs	p.E320fs	PLB1_ENST00000327757.5_Frame_Shift_Ins_p.E309fs	NM_001170585.1	NP_001164056.1	Q6P1J6	PLB1_HUMAN	phospholipase B1	309	4 X 308-326 AA approximate repeats.				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					CTGGCATCTCTGGAATAGGATG	0.614													7	17	---	---	---	---					
CLIP4	79745	broad.mit.edu	37	2	29386781	29386782	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr2:29386781_29386782delCA	ENST00000320081.5	+	13	1874_1875	c.1619_1620delCA	c.(1618-1620)cfs	p.P540fs	CLIP4_ENST00000401605.1_Frame_Shift_Del_p.P540fs|CLIP4_ENST00000401617.2_Frame_Shift_Del_p.P433fs|CLIP4_ENST00000404424.1_Frame_Shift_Del_p.P540fs	NM_024692.4	NP_078968.3	Q8N3C7	CLIP4_HUMAN	CAP-GLY domain containing linker protein family, member 4	540	CAP-Gly 2.									endometrium(4)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(1)	26	Acute lymphoblastic leukemia(172;0.155)					AGCTGTTCTCCAAGATATGGAA	0.371													19	106	---	---	---	---					
TCF7L1	83439	broad.mit.edu	37	2	85531103	85531103	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr2:85531103delC	ENST00000282111.3	+	6	1019	c.744delC	c.(742-744)ctfs	p.L248fs		NM_031283.2	NP_112573.1	Q9HCS4	TF7L1_HUMAN	transcription factor 7-like 1 (T-cell specific, HMG-box)	248	Pro-rich.				chromatin organization|regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|skin(4)|upper_aerodigestive_tract(1)	18						CCCACCCCCTCGGCTGGCTCG	0.647													24	55	---	---	---	---					
SLC9A4	389015	broad.mit.edu	37	2	103124574	103124574	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr2:103124574delG	ENST00000295269.4	+	5	1692	c.1235delG	c.(1234-1236)cgfs	p.R412fs		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4	412					regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						AACCAGTTTCGGACTTTCCCC	0.448													29	115	---	---	---	---					
GALNT13	114805	broad.mit.edu	37	2	155102404	155102404	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr2:155102404delG	ENST00000392825.3	+	7	1333	c.766delG	c.(766-768)ggfs	p.G257fs	GALNT13_ENST00000409237.1_Frame_Shift_Del_p.G257fs	NM_052917.2	NP_443149.2	Q8IUC8	GLT13_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)	257						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						CATGACTTATGGGGGTTTTAA	0.413													26	71	---	---	---	---					
KCNH8	131096	broad.mit.edu	37	3	19295164	19295164	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr3:19295164delC	ENST00000328405.2	+	2	361	c.95delC	c.(94-96)gcfs	p.A32fs		NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8	32	PAS.					integral to membrane	two-component sensor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						TTCATCCTTGCCAATGCCCAG	0.423													59	41	---	---	---	---					
TGM4	7047	broad.mit.edu	37	3	44945424	44945425	+	Frame_Shift_Ins	INS	-	-	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr3:44945424_44945425insA	ENST00000296125.4	+	9	1088_1089	c.1020_1021insA	c.(1018-1023)ccagggfs	p.G341fs		NM_003241.3	NP_003232.2	P49221	TGM4_HUMAN	transglutaminase 4	341					peptide cross-linking|protein polyamination		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	38				BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	L-Glutamine(DB00130)	CGGATCTGCCCAAGGGCTACGA	0.634													54	36	---	---	---	---					
ZIC1	7545	broad.mit.edu	37	3	147128309	147128309	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr3:147128309delC	ENST00000282928.4	+	1	1139	c.410delC	c.(409-411)gcfs	p.A138fs		NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN	Zic family member 1	138					behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.A137E(1)|p.A137D(1)		central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						CACACGGACGCCGCGGGCCAC	0.721													19	10	---	---	---	---					
SERPINI2	5276	broad.mit.edu	37	3	167189475	167189475	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr3:167189475delG	ENST00000476257.1	-	3	446	c.148delC	c.(148-150)ttfs	p.L50fs	SERPINI2_ENST00000465031.1_5'UTR|SERPINI2_ENST00000461846.1_Frame_Shift_Del_p.L50fs|SERPINI2_ENST00000471111.1_Frame_Shift_Del_p.L50fs|SERPINI2_ENST00000264677.4_Frame_Shift_Del_p.L50fs			O75830	SPI2_HUMAN	serpin peptidase inhibitor, clade I (pancpin), member 2	50					cellular component movement|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(20)|prostate(1)|skin(5)|urinary_tract(1)	41						GTTATTCCAAGGGGTGAAAAT	0.398													49	89	---	---	---	---					
AMTN	401138	broad.mit.edu	37	4	71394929	71394930	+	Splice_Site	INS	-	-	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr4:71394929_71394930insA	ENST00000339336.4	+	7	487		c.e7+2		AMTN_ENST00000504451.1_Splice_Site	NM_212557.2	NP_997722.1	Q6UX39	AMTN_HUMAN	amelotin						biomineral tissue development|cell adhesion|odontogenesis of dentine-containing tooth	basal lamina|cell-cell junction				NS(3)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(3)|skin(1)	19			Lung(101;0.235)			GAGGAATTGGTAAAAAAAATAA	0.267													12	13	---	---	---	---					
SLC9A3	6550	broad.mit.edu	37	5	491985	491985	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr5:491985delC	ENST00000264938.3	-	2	422	c.413delG	c.(412-414)gcfs	p.G138fs	SLC9A3_ENST00000514375.1_Frame_Shift_Del_p.G138fs	NM_004174.2	NP_004165.2	P48764	SL9A3_HUMAN	solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3	138						cell surface|integral to membrane	sodium:hydrogen antiporter activity			NS(2)|biliary_tract(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(16)|prostate(3)|skin(2)|urinary_tract(1)	37			Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			CCCCAGGTTGCCGAAGAAGAG	0.632													4	9	---	---	---	---					
ARSK	153642	broad.mit.edu	37	5	94927329	94927329	+	Splice_Site	DEL	G	G	-			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr5:94927329delG	ENST00000380009.4	+	6	1301	c.1096_splice	c.e6+1	p.D366_splice		NM_198150.2	NP_937793.1	Q6UWY0	ARSK_HUMAN	arylsulfatase family, member K	366						extracellular region	arylsulfatase activity|metal ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(1)	16		all_cancers(142;3.38e-06)|all_epithelial(76;6.57e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473)		all cancers(79;6.5e-16)		TACCATGCTTGGTAAGTAATG	0.393													27	43	---	---	---	---					
TNXB	7148	broad.mit.edu	37	6	32026081	32026081	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr6:32026081delC	ENST00000375244.3	-	22	7780	c.7579delG	c.(7579-7581)agfs	p.E2527fs	TNXB_ENST00000375247.2_Frame_Shift_Del_p.E2527fs			P22105	TENX_HUMAN	tenascin XB	2587	Fibronectin type-III 17.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						ACTGTCAGCTCCCCCAGGAGA	0.627													12	51	---	---	---	---					
NFKBIE	4794	broad.mit.edu	37	6	44233364	44233364	+	Frame_Shift_Del	DEL	A	A	-			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr6:44233364delA	ENST00000275015.5	-	1	136	c.137delT	c.(136-138)acfs	p.I46fs		NM_004556.2	NP_004547.2	O00221	IKBE_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, epsilon	46					cytoplasmic sequestering of transcription factor		protein binding			breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|urinary_tract(1)	10	all_cancers(18;2e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CCTCACGCGGATggccccgcc	0.741													9	3	---	---	---	---					
SCAF8	22828	broad.mit.edu	37	6	155154520	155154520	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr6:155154520delG	ENST00000367178.3	+	20	4383	c.3807delG	c.(3805-3807)gafs	p.E1269fs	SCAF8_ENST00000417268.1_Frame_Shift_Del_p.E1269fs|SCAF8_ENST00000367186.4_Frame_Shift_Del_p.E1335fs|TIAM2_ENST00000461783.3_5'UTR	NM_014892.3	NP_055707.3	Q9UPN6	SCAF8_HUMAN	SR-related CTD-associated factor 8	1269					mRNA processing|RNA splicing	nuclear matrix|spliceosomal complex	nucleotide binding|RNA binding|RNA polymerase core enzyme binding			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(15)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	46						CAGAAACTGAGGGGACATAAT	0.363													8	45	---	---	---	---					
CDK14	5218	broad.mit.edu	37	7	90419930	90419930	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr7:90419930delG	ENST00000406263.1	+	4	811	c.369delG	c.(367-369)cafs	p.Q123fs	CDK14_ENST00000436577.2_Frame_Shift_Del_p.Q40fs|CDK14_ENST00000380050.3_Frame_Shift_Del_p.Q169fs|CDK14_ENST00000265741.3_Frame_Shift_Del_p.Q151fs			O94921	CDK14_HUMAN	cyclin-dependent kinase 14	169					cell division|G2/M transition of mitotic cell cycle|regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytoplasmic cyclin-dependent protein kinase holoenzyme complex|nucleus|plasma membrane	ATP binding|cyclin binding|cyclin-dependent protein kinase activity			breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(12)|ovary(1)|skin(4)	32						TCAGGCTGCAGGAAGAAGAAG	0.393													132	65	---	---	---	---					
DLX6	1750	broad.mit.edu	37	7	96635420	96635421	+	In_Frame_Ins	INS	-	-	GCC			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr7:96635420_96635421insGCC	ENST00000518156.2	+	1	561_562	c.131_132insGCC	c.(130-132)ccc>cGCCcc	p.43_44insR	DLX6-AS1_ENST00000430404.2_RNA|DLX6-AS1_ENST00000605417.1_RNA|DLX6-AS1_ENST00000437331.2_RNA|DLX6-AS1_ENST00000458352.2_RNA|DLX6-AS1_ENST00000430027.2_RNA|DLX6-AS1_ENST00000437541.1_RNA|DLX6_ENST00000007660.5_Intron|DLX6-AS1_ENST00000452769.2_RNA			P56179	DLX6_HUMAN	distal-less homeobox 6	0					nervous system development|skeletal system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(2)|lung(4)|ovary(2)|urinary_tract(1)	12	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)					caacagcaacagccgccgccgc	0.698													2	4	---	---	---	---					
MUC17	140453	broad.mit.edu	37	7	100678729	100678729	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr7:100678729delC	ENST00000306151.4	+	3	4096	c.4032delC	c.(4030-4032)gtfs	p.V1344fs		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1344	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GTATACCTGTCAACACCACAC	0.458													155	78	---	---	---	---					
GIMAP7	168537	broad.mit.edu	37	7	150217654	150217654	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr7:150217654delG	ENST00000313543.4	+	2	749	c.592delG	c.(592-594)ggfs	p.G198fs		NM_153236.3	NP_694968.1	Q8NHV1	GIMA7_HUMAN	GTPase, IMAP family member 7	198							GTP binding			breast(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	17			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GTGCAACGAAGGGGCTTACTT	0.438													29	16	---	---	---	---					
C8orf37-AS1	100616530	broad.mit.edu	37	8	96415908	96415918	+	RNA	DEL	TTTTTTTTTTT	TTTTTTTTTTT	-	rs59279759		TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr8:96415908_96415918delTTTTTTTTTTT	ENST00000521905.1	+	0	126																											aataaaAGACttttttttttttttttttttt	0.322													3	3	---	---	---	---					
ATRNL1	26033	broad.mit.edu	37	10	117027900	117027900	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr10:117027900delG	ENST00000355044.3	+	13	2205	c.2079delG	c.(2077-2079)tcfs	p.S693fs		NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	693	PSI 2.					integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		AATGCATTTCGGCAAATAGTA	0.403													15	56	---	---	---	---					
OR4A5	81318	broad.mit.edu	37	11	51411649	51411650	+	Frame_Shift_Ins	INS	-	-	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr11:51411649_51411650insA	ENST00000319760.6	-	1	798_799	c.746_747insT	c.(745-747)gccfs	p.A249fs		NM_001005272.3	NP_001005272.3	Q8NH83	OR4A5_HUMAN	olfactory receptor, family 4, subfamily A, member 5	249					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49		all_lung(304;0.236)				AAATACAGGGTACAAAAAAGAG	0.406													25	47	---	---	---	---					
OR8K1	390157	broad.mit.edu	37	11	56114033	56114035	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr11:56114033_56114035delCTT	ENST00000279783.2	+	1	613_615	c.519_521delCTT	c.(517-522)tcc>tc	p.SF173del		NM_001002907.1	NP_001002907.1	Q8NGG5	OR8K1_HUMAN	olfactory receptor, family 8, subfamily K, member 1	173					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(8)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33	Esophageal squamous(21;0.00448)					TTAAACTGTCCTTCTGTGGCTCA	0.355										HNSCC(65;0.19)			21	79	---	---	---	---					
KIAA1467	57613	broad.mit.edu	37	12	13211385	13211386	+	Splice_Site	INS	-	-	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr12:13211385_13211386insT	ENST00000197268.8	+	3	554_555	c.433_splice	c.e3-1	p.G145_splice		NM_020853.1	NP_065904.1	A2RU67	K1467_HUMAN	KIAA1467	145						integral to membrane				NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(4)	36		Prostate(47;0.184)		BRCA - Breast invasive adenocarcinoma(232;0.157)		TGTATAACAGGTGGGGACCTGT	0.475													79	275	---	---	---	---					
GRIN2B	2904	broad.mit.edu	37	12	13720177	13720177	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr12:13720177delC	ENST00000279593.3	-	12	2589	c.2380delG	c.(2380-2382)ctfs	p.A794fs		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	794					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	AGCCAGAGAGCTTCCAGTTCT	0.488													25	23	---	---	---	---					
LIN7A	8825	broad.mit.edu	37	12	81239540	81239540	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr12:81239540delC	ENST00000552864.1	-	4	654	c.452delG	c.(451-453)aafs	p.R151fs		NM_004664.2	NP_004655.1	O14910	LIN7A_HUMAN	lin-7 homolog A (C. elegans)	151	PDZ.				exocytosis|protein complex assembly|protein transport	basolateral plasma membrane|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	L27 domain binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|skin(2)	15						CTGGTCTCCTCTTTTGAGGCC	0.428													32	48	---	---	---	---					
CUX2	23316	broad.mit.edu	37	12	111757899	111757899	+	Frame_Shift_Del	DEL	A	A	-			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr12:111757899delA	ENST00000261726.6	+	17	2240	c.2086delA	c.(2086-2088)tcfs	p.I696fs		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	696						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						CATCAAGAGCATCCTGGAGCA	0.726													2	4	---	---	---	---					
PARP4	143	broad.mit.edu	37	13	25009604	25009605	+	Frame_Shift_Ins	INS	-	-	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr13:25009604_25009605insA	ENST00000381989.3	-	31	3779_3780	c.3674_3675insT	c.(3673-3675)tgcfs	p.C1225fs		NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	1225					cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport	cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule	DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		CAGAGGATGCTAAAAGAGACTG	0.376													11	63	---	---	---	---					
FNDC3A	22862	broad.mit.edu	37	13	49710605	49710605	+	Frame_Shift_Del	DEL	A	A	-			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr13:49710605delA	ENST00000492622.2	+	6	933	c.628delA	c.(628-630)aafs	p.K210fs	FNDC3A_ENST00000541916.1_Frame_Shift_Del_p.K210fs|FNDC3A_ENST00000398316.3_Frame_Shift_Del_p.K154fs	NM_001079673.1	NP_001073141.1	Q9Y2H6	FND3A_HUMAN	fibronectin type III domain containing 3A	210						Golgi membrane|integral to membrane				endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1)	41		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)		ATCACCCCAGAAATGCCCTTC	0.393													47	39	---	---	---	---					
MAP4K5	11183	broad.mit.edu	37	14	50952308	50952308	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr14:50952308delC	ENST00000013125.4	-	5	628	c.310delG	c.(310-312)atfs	p.D104fs	MAP4K5_ENST00000557578.1_5'UTR	NM_006575.4|NM_198794.2	NP_006566.2|NP_942089.1	Q9Y4K4	M4K5_HUMAN	mitogen-activated protein kinase kinase kinase kinase 5	104	Protein kinase.				activation of JUN kinase activity	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15	all_epithelial(31;0.000415)|Breast(41;0.0102)					TGGTAAATATCTTGAAGTGAT	0.299													2	4	---	---	---	---					
SNHG14	104472715	broad.mit.edu	37	15	25416085	25416085	+	RNA	DEL	G	G	-			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr15:25416085delG	ENST00000549301.1	+	0	327				SNHG14_ENST00000553149.1_RNA																							GAGCAACCCCGTGAGGCAGTC	0.637													17	12	---	---	---	---					
SNHG14	104472715	broad.mit.edu	37	15	25422074	25422075	+	RNA	INS	-	-	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr15:25422074_25422075insT	ENST00000441592.2	+	0	224																											CTAGGTGAGAATTTTGGAAGGG	0.510													112	92	---	---	---	---					
MGA	23269	broad.mit.edu	37	15	41961546	41961547	+	Frame_Shift_Ins	INS	-	-	T			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr15:41961546_41961547insT	ENST00000219905.7	+	2	635_636	c.454_455insT	c.(454-456)tttfs	p.F152fs	MGA_ENST00000545763.1_Frame_Shift_Ins_p.F152fs|MGA_ENST00000570161.1_Frame_Shift_Ins_p.F152fs|MGA_ENST00000568630.1_Intron|MGA_ENST00000389936.4_Frame_Shift_Ins_p.F152fs|MGA_ENST00000566586.1_Frame_Shift_Ins_p.F152fs	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN	MGA, MAX dimerization protein	152						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		TGAACCTCATGTTTTGGGGAGG	0.401													91	97	---	---	---	---					
SLC24A5	283652	broad.mit.edu	37	15	48434470	48434471	+	Frame_Shift_Ins	INS	-	-	A			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr15:48434470_48434471insA	ENST00000341459.3	+	9	1498_1499	c.1425_1426insA	c.(1423-1428)tatgggfs	p.YG475fs	SLC24A5_ENST00000449382.2_Frame_Shift_Ins_p.YG415fs|MYEF2_ENST00000267836.6_3'UTR|MYEF2_ENST00000324324.7_3'UTR	NM_205850.2	NP_995322.1	Q71RS6	NCKX5_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 5	475					response to stimulus	integral to membrane|melanosome|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|skin(1)|upper_aerodigestive_tract(1)	27		all_lung(180;0.00217)		all cancers(107;3.29e-10)|GBM - Glioblastoma multiforme(94;7.32e-07)		TATTATCATACTTGGGGCTTGC	0.337													34	25	---	---	---	---					
ALKBH6	84964	broad.mit.edu	37	19	36504245	36504245	+	Splice_Site	DEL	C	C	-			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr19:36504245delC	ENST00000486389.1	-	2	803		c.e2+1		ALKBH6_ENST00000495116.2_Intron|ALKBH6_ENST00000378875.3_Splice_Site|ALKBH6_ENST00000485128.1_Splice_Site|AC002116.8_ENST00000473572.2_RNA|ALKBH6_ENST00000252984.7_Splice_Site			Q3KRA9	ALKB6_HUMAN	alkB, alkylation repair homolog 6 (E. coli)							cytoplasm|nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|skin(1)	9	all_lung(56;1.35e-06)|Lung NSC(56;2.15e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			GTTCTGACAACCTGCTCCACT	0.557													26	47	---	---	---	---					
SCAF1	58506	broad.mit.edu	37	19	50155567	50155569	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr19:50155567_50155569delAAG	ENST00000360565.3	+	7	2045_2047	c.1921_1923delAAG	c.(1921-1923)del	p.K645del		NM_021228.2	NP_067051.2	Q9H7N4	SFR19_HUMAN	SR-related CTD-associated factor 1	645	Arg-rich.|Ser-rich.				mRNA processing|RNA splicing	nucleus	RNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	20		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204)		TGGCGGCAGCAAGAAGAAGAAGA	0.744													2	4	---	---	---	---					
HAO1	54363	broad.mit.edu	37	20	7895047	7895048	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr20:7895047_7895048insG	ENST00000378789.3	-	3	359_360	c.308_309insC	c.(307-309)aggfs	p.R103fs		NM_017545.2	NP_060015.1	Q9UJM8	HAOX1_HUMAN	hydroxyacid oxidase (glycolate oxidase) 1	103	FMN hydroxy acid dehydrogenase.				cellular nitrogen compound metabolic process|fatty acid alpha-oxidation|glycolate catabolic process|glyoxylate metabolic process	peroxisomal matrix	FMN binding|glycolate oxidase activity|glyoxylate oxidase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						ACATCATGCCCGTTCCCAGGGA	0.510													8	17	---	---	---	---					
LAMA5	3911	broad.mit.edu	37	20	60887362	60887363	+	Frame_Shift_Del	DEL	GC	GC	-			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr20:60887362_60887363delGC	ENST00000252999.3	-	69	9436_9437	c.9370_9371delGC	c.(9370-9372)cfs	p.A3124fs		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	3124	Laminin G-like 3.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GAAAGTCATGGCGCGCCCCACC	0.693													7	18	---	---	---	---					
DIDO1	11083	broad.mit.edu	37	20	61537401	61537402	+	Frame_Shift_Ins	INS	-	-	T	rs140153728		TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr20:61537401_61537402insT	ENST00000266070.4	-	6	1750_1751	c.1425_1426insA	c.(1423-1428)aaagacfs	p.D476fs	DIDO1_ENST00000395340.1_Frame_Shift_Ins_p.D476fs|DIDO1_ENST00000395343.1_Frame_Shift_Ins_p.D476fs|DIDO1_ENST00000354665.4_Frame_Shift_Ins_p.D476fs|DIDO1_ENST00000395335.2_Frame_Shift_Ins_p.D476fs|DIDO1_ENST00000370366.1_Frame_Shift_Ins_p.D476fs|DIDO1_ENST00000266071.5_Frame_Shift_Ins_p.D476fs|DIDO1_ENST00000370371.4_Frame_Shift_Ins_p.D476fs|DIDO1_ENST00000370368.1_Frame_Shift_Ins_p.D476fs	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	476					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					ACTGTGGTCTCTTTTTTTTCTG	0.490													9	199	---	---	---	---					
MOV10L1	54456	broad.mit.edu	37	22	50553643	50553643	+	Frame_Shift_Del	DEL	A	A	-			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chr22:50553643delA	ENST00000262794.5	+	8	1310	c.1227delA	c.(1225-1227)ggfs	p.G409fs	MOV10L1_ENST00000395843.1_5'UTR|MOV10L1_ENST00000545383.1_Frame_Shift_Del_p.G409fs|MOV10L1_ENST00000395858.3_Frame_Shift_Del_p.G409fs|MOV10L1_ENST00000540615.1_Frame_Shift_Del_p.G389fs	NM_018995.2	NP_061868.1	Q9BXT6	M10L1_HUMAN	Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse)	409					germ cell development|multicellular organismal development|spermatogenesis		ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding			breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		CTCCAGGGGGAAAAACCTTCA	0.483													29	182	---	---	---	---					
CHDC2	286464	broad.mit.edu	37	X	36117970	36117993	+	In_Frame_Del	DEL	ACAGATGTATTTCTACAGATATAC	ACAGATGTATTTCTACAGATATAC	-	rs113466978		TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chrX:36117970_36117993delACAGATGTATTTCTACAGATATAC	ENST00000378660.1	+	7	1014_1037	c.826_849delACAGATGTATTTCTACAGATATAC	c.(826-849)del	p.TDVFLQIY276del	CHDC2_ENST00000313548.4_In_Frame_Del_p.TDVFLQIY276del					calponin homology domain containing 2									p.D277G(1)									ACGGGCATGGACAGATGTATTTCTACAGATATACAAGGTAACAT	0.330													7	69	---	---	---	---					
MAGED1	9500	broad.mit.edu	37	X	51644748	51644749	+	Frame_Shift_Ins	INS	-	-	G	rs3199687	byFrequency	TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chrX:51644748_51644749insG	ENST00000375695.2	+	13	2380_2381	c.2227_2228insG	c.(2227-2229)ggcfs	p.G743fs	MAGED1_ENST00000494718.1_3'UTR|MAGED1_ENST00000326587.7_Frame_Shift_Ins_p.G687fs|MAGED1_ENST00000375722.1_Frame_Shift_Ins_p.G687fs|MAGED1_ENST00000375772.3_Frame_Shift_Ins_p.G687fs	NM_001005333.1	NP_001005333.1	Q9Y5V3	MAGD1_HUMAN	melanoma antigen family D, 1	687					apoptosis|induction of apoptosis by extracellular signals|negative regulation of epithelial cell proliferation|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent	cytoplasm|plasma membrane|protein complex	protein binding			breast(1)|endometrium(4)|large_intestine(10)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	32	Ovarian(276;0.236)					GGCCGAAGCCCGGGCTGAAGCA	0.574										Multiple Myeloma(10;0.10)			15	23	---	---	---	---					
ZXDB	158586	broad.mit.edu	37	X	57619478	57619478	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chrX:57619478delC	ENST00000374888.1	+	1	1210	c.997delC	c.(997-999)ccfs	p.P333fs		NM_007157.3	NP_009088.1	P98169	ZXDB_HUMAN	zinc finger, X-linked, duplicated B	333	Required for interaction with ZXDC (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(2)|skin(6)	27						CAAACTGCGGCCCTTTGGCTG	0.597													9	32	---	---	---	---					
PJA1	64219	broad.mit.edu	37	X	68381849	68381849	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chrX:68381849delG	ENST00000361478.1	-	2	1610	c.1233delC	c.(1231-1233)gcfs	p.A411fs	PJA1_ENST00000374571.4_Frame_Shift_Del_p.A356fs|PJA1_ENST00000374583.1_Frame_Shift_Del_p.A411fs|PJA1_ENST00000374584.3_Frame_Shift_Del_p.A223fs	NM_001032396.2|NM_022368.4|NM_145119.3	NP_001027568.1|NP_071763.2|NP_660095.1	Q8NG27	PJA1_HUMAN	praja ring finger 1, E3 ubiquitin protein ligase	411							zinc ion binding			endometrium(3)|large_intestine(5)|lung(12)|ovary(1)	21						TGCCAGTGCTGGCACTCACCT	0.622													12	35	---	---	---	---					
EMD	2010	broad.mit.edu	37	X	153608718	153608718	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-7670-01A-11D-2063-08	TCGA-44-7670-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2342c577-a2e8-4239-ba8e-bbf1c62e7741	542cfab6-4807-4086-badc-97f6a4239d62	g.chrX:153608718delC	ENST00000369842.4	+	4	678	c.390delC	c.(388-390)ttfs	p.F130fs	EMD_ENST00000492448.1_3'UTR|EMD_ENST00000369835.3_Frame_Shift_Del_p.F95fs	NM_000117.2	NP_000108.1	P50402	EMD_HUMAN	emerin	130	Interaction with F-actin (Probable).				cellular response to growth factor stimulus|muscle contraction|muscle organ development|negative regulation of catenin import into nucleus|negative regulation of fibroblast proliferation|positive regulation of protein export from nucleus|regulation of canonical Wnt receptor signaling pathway	endoplasmic reticulum|integral to membrane|microtubule|nuclear inner membrane|nuclear outer membrane	actin binding|beta-tubulin binding			lung(5)	5	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)					CTGACGCTTTCCATCACCAGG	0.587													18	41	---	---	---	---					
