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
DOLK	22845	broad.mit.edu	37	9	131709575	131709575	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr9:131709575C>T	ENST00000372586.3	-	1	323	c.8G>A	c.(7-9)cGa>cAa	p.R3Q	RP11-101E3.5_ENST00000482796.1_Intron	NM_014908.3	NP_055723.1	Q9UPQ8	DOLK_HUMAN	dolichol kinase	3					dolichyl diphosphate biosynthetic process|dolichyl monophosphate biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to endoplasmic reticulum membrane|membrane fraction	dolichol kinase activity			breast(1)|large_intestine(5)|lung(3)|ovary(1)|urinary_tract(1)	11						TGGGCACTCTCGGGTCATATC	0.662000													10	53					0	0	1	0	0
FUS	2521	broad.mit.edu	37	16	31201394	31201394	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr16:31201394C>A	ENST00000254108.7	+	11	1205	c.1100C>A	c.(1099-1101)tCa>tAa	p.S367*	FUS_ENST00000474990.1_3'UTR|FUS_ENST00000380244.3_Nonsense_Mutation_p.S366*|FUS_ENST00000568685.1_Nonsense_Mutation_p.S368*	NM_001170634.1|NM_001170937.1|NM_004960.3	NP_001164105.1|NP_001164408.1|NP_004951.1	P35637	FUS_HUMAN	fused in sarcoma	367	RRM.				cell death|nuclear mRNA splicing, via spliceosome	nucleoplasm	DNA binding|nucleotide binding|protein binding|RNA binding|zinc ion binding		FUS/ERG(167)|FUS/DDIT3(631)|FUS/FEV(2)|FUS/ATF1(4)|FUS/CREB3L1(6)|FUS/CREB3L2(158)	breast(3)|endometrium(5)|kidney(3)|large_intestine(1)|lung(5)|prostate(3)|skin(1)|urinary_tract(1)	22		Renal(780;0.000219)|Breast(268;0.00957)|Hepatocellular(780;0.121)		GBM - Glioblastoma multiforme(240;2.31e-05)|Kidney(780;0.000209)		ATCAAGGTCTCATTTGCTACT	0.478000			T	"""DDIT3, ERG, FEV, ATF1, CREB3L2, CREB3L1"""	"""liposarcoma, AML, Ewing sarcoma, angiomatoid fibrous histiocytoma, fibromyxoid sarcoma"""								4	22					0.00024832	0.000258083	1	1	0
BEX4	56271	broad.mit.edu	37	X	102471435	102471435	+	Silent	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chrX:102471435C>T	ENST00000372695.5	+	3	589	c.354C>T	c.(352-354)ctC>ctT	p.L118L	BEX4_ENST00000372691.3_Silent_p.L118L	NM_001080425.3	NP_001073894.1	Q9NWD9	BEX4_HUMAN	brain expressed, X-linked 4	118						cytoplasm|nucleus				endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)	9						ACTTTTGCCTCATACCTTGAA	0.398000													13	58					0	0	1	0	0
ARFGEF2	10564	broad.mit.edu	37	20	47605103	47605103	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr20:47605103G>A	ENST00000371917.4	+	18	2437	c.2437G>A	c.(2437-2439)Gag>Aag	p.E813K		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	813					exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	cytosol|Golgi membrane	ARF guanyl-nucleotide exchange factor activity			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			TCTGCCAGAAGAGTATCTCTC	0.313000													8	153					0	0	1	0	0
ARHGEF10	9639	broad.mit.edu	37	8	1806263	1806263	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr8:1806263G>A	ENST00000518288.1	+	4	410	c.247G>A	c.(247-249)Gaa>Aaa	p.E83K	ARHGEF10_ENST00000520359.1_Missense_Mutation_p.E59K|ARHGEF10_ENST00000262112.6_Missense_Mutation_p.E83K|ARHGEF10_ENST00000349830.3_Missense_Mutation_p.E59K|ARHGEF10_ENST00000398560.1_Missense_Mutation_p.E83K|ARHGEF10_ENST00000398564.1_Missense_Mutation_p.E83K			O15013	ARHGA_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10	83					centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis	centrosome|cytosol|soluble fraction	kinesin binding|Rho guanyl-nucleotide exchange factor activity			endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1)	35		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)		TGGAGCCAGTGAAGCCCCTGC	0.617000													4	24					0	0	1	0	0
NRXN2	9379	broad.mit.edu	37	11	64435996	64435996	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr11:64435996G>C	ENST00000265459.6	-	8	1739	c.1278C>G	c.(1276-1278)ttC>ttG	p.F426L	NRXN2_ENST00000377551.1_Missense_Mutation_p.F426L|NRXN2_ENST00000377559.3_Missense_Mutation_p.F395L|NRXN2_ENST00000409571.1_Missense_Mutation_p.F419L	NM_015080.3	NP_055895.1	Q9P2S2	NRX2A_HUMAN	neurexin 2	426	Laminin G-like 2.				cell adhesion	integral to membrane	metal ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						CAATGTAGAAGAAGTCATCAG	0.612000													10	119					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179611576	179611576	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr2:179611576G>C	ENST00000360870.5	-	46	15773	c.15551C>G	c.(15550-15552)tCt>tGt	p.S5184C	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000589042.1_Intron|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000578746.1_RNA	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	8703	Ig-like 32.						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)			TTCAATAAAAGATGGAGGCAT	0.413000													4	79					0	0	1	0	0
ZNF155	7711	broad.mit.edu	37	19	44500376	44500376	+	Missense_Mutation	SNP	C	C	G	rs138952990		TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr19:44500376C>G	ENST00000270014.2	+	5	495	c.367C>G	c.(367-369)Cag>Gag	p.Q123E	ZNF155_ENST00000590615.1_Missense_Mutation_p.Q123E|ZNF155_ENST00000407951.2_Missense_Mutation_p.Q134E	NM_001260487.1|NM_198089.2	NP_001247416|NP_932355	Q12901	ZN155_HUMAN	zinc finger protein 155	123						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	15		Prostate(69;0.0352)				AAATAACTCTCAGTTCTTTGA	0.463000													7	100					0	0	1	0	0
SPINT4	391253	broad.mit.edu	37	20	44352659	44352659	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr20:44352659G>C	ENST00000279058.3	+	2	273	c.256G>C	c.(256-258)Gaa>Caa	p.E86Q		NM_178455.1	NP_848550.1	Q6UDR6	SPIT4_HUMAN	serine peptidase inhibitor, Kunitz type 4	86	BPTI/Kunitz inhibitor.					extracellular region	serine-type endopeptidase inhibitor activity			lung(6)|ovary(1)|skin(1)	8		Myeloproliferative disorder(115;0.028)				GCTTAAAATAGAACGTGAAGT	0.393000													7	122					0	0	1	0	0
FLG2	388698	broad.mit.edu	37	1	152324512	152324512	+	Missense_Mutation	SNP	T	T	C	rs150834303		TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr1:152324512T>C	ENST00000388718.5	-	3	5822	c.5750A>G	c.(5749-5751)aAg>aGg	p.K1917R	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1917							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)			TTGGTGTCTCTTGTGAACTGT	0.502000													19	269					0	0	1	0	0
CLEC16A	23274	broad.mit.edu	37	16	11145497	11145497	+	Splice_Site	SNP	G	G	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr16:11145497G>T	ENST00000409790.1	+	18	2224	c.1994G>T	c.(1993-1995)cGg>cTg	p.R665L	CLEC16A_ENST00000465491.1_3'UTR|CLEC16A_ENST00000409552.3_Splice_Site_p.R647L	NM_015226.2	NP_056041.1	Q2KHT3	CL16A_HUMAN	C-type lectin domain family 16, member A	665								p.0?(1)		breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						AAGACCCGGCGGGTGAGTGAG	0.602000													13	54					2.23348e-06	2.39077e-06	1	1	0
LAMB1	3912	broad.mit.edu	37	7	107626630	107626630	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr7:107626630G>T	ENST00000393561.1	-	4	858	c.674C>A	c.(673-675)aCt>aAt	p.T225N	LAMB1_ENST00000393560.1_Missense_Mutation_p.T201N|LAMB1_ENST00000222399.6_Missense_Mutation_p.T201N			P07942	LAMB1_HUMAN	laminin, beta 1	201	Laminin N-terminal.				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CTCTCCTTCAGTTGAGGGTTC	0.378000													13	74					2.23348e-06	2.39077e-06	1	1	0
ZNF727	442319	broad.mit.edu	37	7	63538396	63538396	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr7:63538396G>A	ENST00000550760.3	+	4	1148	c.969G>A	c.(967-969)tgG>tgA	p.W323*		NM_001159522.1	NP_001152994.1	A8MUV8	ZN727_HUMAN	zinc finger protein 727	323					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|skin(1)|stomach(1)|urinary_tract(1)	8						CTTTTATGTGGATCTCGGCCC	0.388000													3	31					0	0	1	0	0
RIMS2	9699	broad.mit.edu	37	8	104922586	104922586	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr8:104922586G>T	ENST00000262231.10	+	3	1334	c.1086G>T	c.(1084-1086)caG>caT	p.Q362H	RIMS2_ENST00000406091.3_Intron|RIMS2_ENST00000507740.1_Intron|RIMS2_ENST00000436393.2_Intron	NM_001282881.1	NP_001269810.1	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	585					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			CTAGTGAGCAGGCAGTTTTGT	0.388000										HNSCC(12;0.0054)			9	97					1.58986e-06	1.70784e-06	1	1	0
VAV3	10451	broad.mit.edu	37	1	108417594	108417594	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr1:108417594C>T	ENST00000370056.4	-	2	524	c.250G>A	c.(250-252)Gag>Aag	p.E84K	VAV3_ENST00000527011.1_Missense_Mutation_p.E84K|VAV3_ENST00000371846.4_Missense_Mutation_p.E19K	NM_006113.4	NP_006104.4	Q9UKW4	VAV3_HUMAN	vav 3 guanine nucleotide exchange factor	84	CH.				angiogenesis|apoptosis|B cell receptor signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of B cell proliferation|regulation of Rho protein signal transduction|response to DNA damage stimulus|response to drug|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity			NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1)	58		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)		CCAAACGTCTCACAACAGGCC	0.358000													7	54					0	0	1	0	0
MUC7	4589	broad.mit.edu	37	4	71347324	71347324	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr4:71347324C>T	ENST00000413702.1	+	4	1151	c.863C>T	c.(862-864)tCt>tTt	p.S288F	MUC7_ENST00000456088.1_Missense_Mutation_p.S288F|MUC7_ENST00000304887.5_Missense_Mutation_p.S288F	NM_001145006.1	NP_001138478.1	Q8TAX7	MUC7_HUMAN	mucin 7, secreted	288	Thr-rich.					extracellular region	protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			CCCACACCTTCTGCAACTACA	0.577000													30	232					0	0	1	0	0
DHX16	8449	broad.mit.edu	37	6	30627933	30627933	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr6:30627933G>A	ENST00000376442.3	-	10	1826	c.1631C>T	c.(1630-1632)cCt>cTt	p.P544L	DHX16_ENST00000480966.1_5'UTR|DHX16_ENST00000376437.5_Missense_Mutation_p.P63L	NM_001164239.1|NM_003587.4	NP_001157711.1|NP_003578.2	O60231	DHX16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 16	544	Helicase ATP-binding.				mRNA processing|RNA splicing	nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity			kidney(2)|ovary(2)	4						CTTGAGCTCAGGTCGGAAGCG	0.537000													5	59					0	0	1	0	0
PRPF6	24148	broad.mit.edu	37	20	62659889	62659889	+	Missense_Mutation	SNP	A	A	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr20:62659889A>T	ENST00000535781.1	+	17	2389	c.2278A>T	c.(2278-2280)Atg>Ttg	p.M760L	ZNF512B_ENST00000450537.1_Intron|ZNF512B_ENST00000217130.3_Intron			O94906	PRP6_HUMAN	pre-mRNA processing factor 6	800					assembly of spliceosomal tri-snRNP|positive regulation of transcription from RNA polymerase II promoter|spliceosome assembly	catalytic step 2 spliceosome|nucleoplasm|U4/U6 snRNP|U4/U6 x U5 tri-snRNP complex|U5 snRNP	androgen receptor binding|ribonucleoprotein binding|transcription coactivator activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(38;6.47e-12)|all_epithelial(29;1.26e-13)|Lung NSC(23;9.37e-10)|all_lung(23;3.23e-09)					AAATACACTCATGGCCAAGGC	0.652000													11	122					0	0	1	0	0
KCND3	3752	broad.mit.edu	37	1	112524975	112524975	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr1:112524975G>A	ENST00000369697.1	-	1	443	c.374C>T	c.(373-375)cCg>cTg	p.P125L	KCND3_ENST00000315987.2_Missense_Mutation_p.P125L|KCND3_ENST00000302127.4_Missense_Mutation_p.P125L			Q9UK17	KCND3_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 3	125						sarcolemma|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	49		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)		GATGATCTCCGGGAGGATGCC	0.617000													9	103					0	0	1	0	0
HPS4	89781	broad.mit.edu	37	22	26860092	26860092	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr22:26860092C>T	ENST00000398145.2	-	11	2120	c.1504G>A	c.(1504-1506)Gca>Aca	p.A502T	HPS4_ENST00000398141.1_Missense_Mutation_p.A515T|HPS4_ENST00000402105.3_Missense_Mutation_p.A497T|HPS4_ENST00000336873.5_Missense_Mutation_p.A502T|HPS4_ENST00000493455.2_5'UTR	NM_022081.5	NP_071364.4	Q9NQG7	HPS4_HUMAN	Hermansky-Pudlak syndrome 4	502					lysosome organization|positive regulation of eye pigmentation|protein stabilization|protein targeting	lysosome|melanosome|membrane fraction|platelet dense granule	protein homodimerization activity			breast(2)|endometrium(3)|kidney(5)|large_intestine(4)|lung(12)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	32						CCAGGGGCTGCGTGGCTTTCA	0.567000									Hermansky-Pudlak syndrome				27	148					0	0	1	0	0
CDKL2	8999	broad.mit.edu	37	4	76523333	76523333	+	Missense_Mutation	SNP	T	T	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr4:76523333T>A	ENST00000429927.2	-	8	1651	c.948A>T	c.(946-948)aaA>aaT	p.K316N	CDKL2_ENST00000307465.4_Missense_Mutation_p.K316N	NM_003948.3	NP_003939.1	Q92772	CDKL2_HUMAN	cyclin-dependent kinase-like 2 (CDC2-related kinase)	316					sex differentiation|signal transduction	cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity			breast(3)|endometrium(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(2)|stomach(2)	22			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			TGTTTTGGGATTTTTTAGATA	0.274000													4	38					0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55533796	55533796	+	Silent	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr8:55533796C>T	ENST00000220676.1	+	2	418	c.270C>T	c.(268-270)caC>caT	p.H90H		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	90	Doublecortin 1.				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)			GGGGCAGGCACAGCATCACGC	0.607000													8	132					0	0	1	0	0
CEP76	79959	broad.mit.edu	37	18	12673397	12673397	+	Silent	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr18:12673397G>A	ENST00000262127.2	-	12	2172	c.1947C>T	c.(1945-1947)atC>atT	p.I649I	PSMG2_ENST00000585331.2_Intron|PSMG2_ENST00000589405.1_Intron|CEP76_ENST00000423709.2_Silent_p.I574I	NM_024899.2	NP_079175.2	Q8TAP6	CEP76_HUMAN	centrosomal protein 76kDa	649					G2/M transition of mitotic cell cycle|regulation of centriole replication	centriole|cytosol	protein binding			endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						AAGCAAACATGATCCAAACAG	0.378000													22	133					0	0	1	0	0
KMT2B	9757	broad.mit.edu	37	19	36223466	36223466	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr19:36223466G>C	ENST00000222270.7	+	28	6016	c.6016G>C	c.(6016-6018)Gag>Cag	p.E2006Q	KMT2B_ENST00000607650.1_RNA|KMT2B_ENST00000420124.1_Missense_Mutation_p.E2006Q	NM_014727.1	NP_055542.1			lysine (K)-specific methyltransferase 2B																		CTTCCAGGAAGAGATTGTAGC	0.667000													8	41					0	0	1	0	0
OPN3	23596	broad.mit.edu	37	1	241803278	241803278	+	Silent	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr1:241803278G>A	ENST00000366554.2	-	1	385	c.279C>T	c.(277-279)ttC>ttT	p.F93F	OPN3_ENST00000469376.1_5'UTR|OPN3_ENST00000331838.5_Silent_p.F93F	NM_014322.2	NP_055137.2	Q9H1Y3	OPN3_HUMAN	opsin 3	93					phototransduction|protein-chromophore linkage|regulation of circadian rhythm|visual perception	integral to plasma membrane	G-protein coupled photoreceptor activity			endometrium(1)|large_intestine(5)|lung(5)	11	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	OV - Ovarian serous cystadenocarcinoma(106;0.0125)			AGGTGACCCCGAAGAGGGACA	0.622000													4	18					0	0	1	0	0
DRG1	4733	broad.mit.edu	37	22	31822752	31822752	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr22:31822752C>G	ENST00000331457.4	+	7	1026	c.865C>G	c.(865-867)Ctg>Gtg	p.L289V		NM_004147.3	NP_004138.1	Q9Y295	DRG1_HUMAN	developmentally regulated GTP binding protein 1	289					multicellular organismal development|transcription, DNA-dependent	cytoplasm|intermediate filament cytoskeleton|nucleus	GTP binding|transcription factor binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|urinary_tract(1)	11						CTGGGACTATCTGAAACTAGT	0.398000													13	104					0	0	1	0	0
ARAP2	116984	broad.mit.edu	37	4	36212143	36212143	+	Silent	SNP	C	C	G			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr4:36212143C>G	ENST00000303965.4	-	6	1845	c.1356G>C	c.(1354-1356)ccG>ccC	p.P452P		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	452					regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						TTGAGCTTAACGGATAACTGT	0.383000													7	67					0	0	1	0	0
ATP1A3	478	broad.mit.edu	37	19	42474362	42474362	+	Silent	SNP	G	G	C			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr19:42474362G>C	ENST00000545399.1	-	18	2709	c.2556C>G	c.(2554-2556)ctC>ctG	p.L852L	ATP1A3_ENST00000543770.1_Silent_p.L850L|ATP1A3_ENST00000302102.5_Silent_p.L839L|ATP1A3_ENST00000602133.1_Silent_p.L809L	NM_001256214.1	NP_001243143.1	P13637	AT1A3_HUMAN	ATPase, Na+/K+ transporting, alpha 3 polypeptide	839					ATP biosynthetic process	endoplasmic reticulum|Golgi apparatus	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						CCATGCTGATGAGTCTCTCAT	0.612000													7	66					0	0	1	0	0
CORO2B	10391	broad.mit.edu	37	15	69003924	69003924	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr15:69003924T>C	ENST00000543950.1	+	5	866	c.512T>C	c.(511-513)aTt>aCt	p.I171T	CORO2B_ENST00000261861.5_Missense_Mutation_p.I171T|CORO2B_ENST00000566799.1_Missense_Mutation_p.I176T|CORO2B_ENST00000540068.1_Missense_Mutation_p.I171T	NM_001190457.1	NP_001177386.1	Q9UQ03	COR2B_HUMAN	coronin, actin binding protein, 2B	176					actin cytoskeleton organization	actin cytoskeleton|cytoplasm|membrane	actin filament binding			kidney(3)|large_intestine(13)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						GTGAAGATGATTGACTGCCAC	0.592000													6	46					0	0	1	0	0
ACE	1636	broad.mit.edu	37	17	61568636	61568636	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr17:61568636G>T	ENST00000577647.1	+	8	1129	c.1084G>T	c.(1084-1086)Gtg>Ttg	p.V362L	ACE_ENST00000490216.2_Missense_Mutation_p.V362L|ACE_ENST00000290866.4_Missense_Mutation_p.V936L|ACE_ENST00000290863.6_Missense_Mutation_p.V362L|ACE_ENST00000421982.2_Missense_Mutation_p.V182L|ACE_ENST00000413513.3_Missense_Mutation_p.V362L|ACE_ENST00000428043.1_Missense_Mutation_p.V936L			P12821	ACE_HUMAN	angiotensin I converting enzyme	936	Peptidase M2 1.				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding	p.V362M(1)|p.V936M(1)		autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	GCTGCTGCCCGTGCCTCCTGA	0.617000													6	44					3.59834e-05	3.7851e-05	1	1	0
GNE	10020	broad.mit.edu	37	9	36276902	36276902	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr9:36276902G>A	ENST00000396594.3	-	1	151	c.40C>T	c.(40-42)Caa>Taa	p.Q14*	GNE_ENST00000543356.2_Silent_p.F46F	NM_001128227.2	NP_001121699.1	Q9Y223	GLCNE_HUMAN	glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase	0					cell adhesion|lipopolysaccharide biosynthetic process|N-acetylneuraminate metabolic process|UDP-N-acetylglucosamine metabolic process		ATP binding|N-acylmannosamine kinase activity|UDP-N-acetylglucosamine 2-epimerase activity			endometrium(8)|kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			STAD - Stomach adenocarcinoma(86;0.228)			TGAGGTCCTTGAAAGCATGAC	0.403000													17	69					0	0	1	0	0
BAZ1B	9031	broad.mit.edu	37	7	72891929	72891929	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr7:72891929G>C	ENST00000339594.4	-	7	2200	c.1862C>G	c.(1861-1863)tCt>tGt	p.S621C	BAZ1B_ENST00000404251.1_Missense_Mutation_p.S621C	NM_032408.3	NP_115784.1	Q9UIG0	BAZ1B_HUMAN	bromodomain adjacent to zinc finger domain, 1B	621	DDT.				ATP-dependent chromatin remodeling|chromatin-mediated maintenance of transcription|DNA replication-dependent nucleosome disassembly|double-strand break repair|heart morphogenesis|transcription, DNA-dependent	WINAC complex	ATP binding|chromatin binding|histone acetyl-lysine binding|histone kinase activity|non-membrane spanning protein tyrosine kinase activity|protein complex scaffold|vitamin D receptor activator activity|vitamin D receptor binding|zinc ion binding			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Lung NSC(55;0.0659)|all_lung(88;0.152)				AAGTAGCCCAGAATAACAGCT	0.478000													5	59					0	0	1	0	0
WDR7	23335	broad.mit.edu	37	18	54348569	54348569	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr18:54348569G>A	ENST00000254442.3	+	4	503	c.292G>A	c.(292-294)Gat>Aat	p.D98N	WDR7_ENST00000357574.3_Missense_Mutation_p.D98N|WDR7_ENST00000589935.1_Intron	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	98										NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		GGATGTGAGTGATGGCAGATG	0.338000													16	146					0	0	1	0	0
TMTC3	160418	broad.mit.edu	37	12	88570051	88570051	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr12:88570051G>C	ENST00000266712.6	+	10	1607	c.1387G>C	c.(1387-1389)Gag>Cag	p.E463Q		NM_181783.3	NP_861448.2	Q6ZXV5	TMTC3_HUMAN	transmembrane and tetratricopeptide repeat containing 3	463						integral to membrane	binding			NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|liver(1)|lung(12)|prostate(4)|skin(1)	31						AAAGAACTTTGAGAGAGCTTT	0.289000													4	32					0	0	1	0	0
ZNF513	130557	broad.mit.edu	37	2	27600473	27600473	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr2:27600473G>A	ENST00000323703.6	-	4	1763	c.1565C>T	c.(1564-1566)tCt>tTt	p.S522F	ZNF513_ENST00000407879.1_Missense_Mutation_p.S460F	NM_144631.5	NP_653232.3	Q8N8E2	ZN513_HUMAN	zinc finger protein 513	522					regulation of transcription, DNA-dependent|response to stimulus|retina development in camera-type eye|transcription, DNA-dependent|visual perception	nucleus	transcription regulatory region DNA binding|zinc ion binding			endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)	17	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGGGCCCCGAGAGCTCAAAAC	0.632000													5	49					0	0	1	0	0
MYO18B	84700	broad.mit.edu	37	22	26286783	26286783	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr22:26286783G>A	ENST00000335473.7	+	26	4625	c.4375G>A	c.(4375-4377)Gtg>Atg	p.V1459M	MYO18B_ENST00000536101.1_Missense_Mutation_p.V1459M|CTA-125H2.2_ENST00000453457.3_RNA|CTA-125H2.2_ENST00000600211.1_RNA|MYO18B_ENST00000407587.2_Missense_Mutation_p.V1460M	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	1459	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						GGCCTGCCAGGTGCTGGAGAG	0.612000													7	37					0	0	1	0	0
RPS6KA3	6197	broad.mit.edu	37	X	20194392	20194392	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chrX:20194392C>G	ENST00000379565.3	-	13	1285	c.1078G>C	c.(1078-1080)Gag>Cag	p.E360Q	RPS6KA3_ENST00000540702.1_Missense_Mutation_p.E332Q|RPS6KA3_ENST00000379548.4_Missense_Mutation_p.E331Q|RPS6KA3_ENST00000544447.1_Missense_Mutation_p.E332Q	NM_004586.2	NP_004577.1	P51812	KS6A3_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 3	360	AGC-kinase C-terminal.				axon guidance|central nervous system development|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|skeletal system development|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|caspase inhibitor activity|magnesium ion binding|protein serine/threonine kinase activity			breast(4)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(14)|lung(7)|ovary(1)|stomach(1)	41						GCAGTAAACTCAGGATCAAAA	0.348000													4	21					0	0	1	0	0
ARHGEF1	9138	broad.mit.edu	37	19	42392170	42392170	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr19:42392170G>C	ENST00000599846.1	+	2	142	c.17G>C	c.(16-18)cGa>cCa	p.R6P	ARHGEF1_ENST00000378152.4_Missense_Mutation_p.R21P|ARHGEF1_ENST00000596957.1_Intron|ARHGEF1_ENST00000337665.4_Missense_Mutation_p.R21P|ARHGEF1_ENST00000347545.4_Missense_Mutation_p.R6P|ARHGEF1_ENST00000354532.3_Missense_Mutation_p.R6P			Q92888	ARHG1_HUMAN	Rho guanine nucleotide exchange factor (GEF) 1	6					cell proliferation|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis|regulation of Rho protein signal transduction|Rho protein signal transduction	cytosol|plasma membrane	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(8)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425)		Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644)		GACTTCGCCCGAGGGGCGGTG	0.657000													4	24					0	0	1	0	0
DCAF4L2	138009	broad.mit.edu	37	8	88885230	88885230	+	Nonsense_Mutation	SNP	C	C	A	rs138662456	by1000genomes	TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr8:88885230C>A	ENST00000319675.3	-	1	1066	c.970G>T	c.(970-972)Gaa>Taa	p.E324*		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	324								p.E324K(2)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						CCTTCTTCTTCGTTCACATGC	0.552000													8	57					0.00448238	0.00460353	1	1	0
MYH2	4620	broad.mit.edu	37	17	10440759	10440759	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr17:10440759G>C	ENST00000245503.5	-	16	2072	c.1688C>G	c.(1687-1689)tCt>tGt	p.S563C	RP11-799N11.1_ENST00000399342.2_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.S563C|MYH2_ENST00000532183.2_Missense_Mutation_p.S563C|CTC-297N7.11_ENST00000587182.2_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	563	Myosin head-like.				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						GAAGTTGGCAGACTTGCCCAG	0.532000													9	119					0	0	1	0	0
METTL5	29081	broad.mit.edu	37	2	170681089	170681089	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr2:170681089T>C	ENST00000410097.1	-	2	154	c.19A>G	c.(19-21)Aag>Gag	p.K7E	METTL5_ENST00000409965.1_Missense_Mutation_p.K7E|METTL5_ENST00000392640.2_Missense_Mutation_p.K7E|METTL5_ENST00000409340.1_Missense_Mutation_p.K7E|METTL5_ENST00000260953.5_Missense_Mutation_p.K7E|METTL5_ENST00000308099.3_Missense_Mutation_p.K7E|METTL5_ENST00000409837.1_Missense_Mutation_p.K7E			Q9NRN9	METL5_HUMAN	methyltransferase like 5	7							methyltransferase activity|nucleic acid binding			breast(2)|central_nervous_system(1)|large_intestine(5)|lung(1)|prostate(1)	10						TCTAGTTCCTTAAGCCTTACT	0.468000											OREG0015052	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	98					0	0	1	0	0
TRIO	7204	broad.mit.edu	37	5	14304625	14304625	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr5:14304625C>T	ENST00000344204.4	+	8	1448	c.1424C>T	c.(1423-1425)tCa>tTa	p.S475L	TRIO_ENST00000537187.1_Missense_Mutation_p.S475L|TRIO_ENST00000509967.2_Missense_Mutation_p.S426L	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	475					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					GACCTTCCCTCAGAGCTGCAG	0.393000													10	186					0	0	1	0	0
NAALADL2	254827	broad.mit.edu	37	3	174951896	174951896	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr3:174951896C>T	ENST00000454872.1	+	3	849	c.721C>T	c.(721-723)Cat>Tat	p.H241Y	NAALADL2_ENST00000473253.1_3'UTR	NM_207015.2	NP_996898.2	Q58DX5	NADL2_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 2	241					proteolysis	integral to membrane	peptidase activity			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)		TCAATGCTTTCATCCTAATGG	0.488000													22	102					0	0	1	0	0
ACBD4	79777	broad.mit.edu	37	17	43214493	43214493	+	Silent	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr17:43214493G>A	ENST00000431281.1	+	7	871	c.402G>A	c.(400-402)ctG>ctA	p.L134L	ACBD4_ENST00000321854.8_Silent_p.L134L|ACBD4_ENST00000398322.3_Silent_p.L134L|ACBD4_ENST00000591136.1_3'UTR|ACBD4_ENST00000586346.1_Silent_p.L134L|ACBD4_ENST00000591859.1_Silent_p.L134L|ACBD4_ENST00000592162.1_Silent_p.L134L|ACBD4_ENST00000376955.4_Silent_p.L134L	NM_001135704.1	NP_001129176.1	Q8NC06	ACBD4_HUMAN	acyl-CoA binding domain containing 4	134							fatty-acyl-CoA binding			kidney(1)|lung(3)|ovary(1)	5						AGACCTTCCTGAGAAGGGTCA	0.607000													3	52					0	0	1	0	0
B3GNT5	84002	broad.mit.edu	37	3	182988156	182988156	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr3:182988156G>C	ENST00000326505.3	+	2	1100	c.570G>C	c.(568-570)atG>atC	p.M190I	B3GNT5_ENST00000460419.1_Missense_Mutation_p.M190I|B3GNT5_ENST00000465010.1_Missense_Mutation_p.M190I|MCF2L2_ENST00000328913.3_Intron|MCF2L2_ENST00000447025.2_Intron|MCF2L2_ENST00000473233.1_Intron	NM_032047.4	NP_114436.1	Q9BYG0	B3GN5_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 5	190					central nervous system development|glycolipid biosynthetic process|protein glycosylation	Golgi membrane|integral to membrane	beta-galactosyl-N-acetylglucosaminylgalactosylglucosyl-ceramide beta-1,3-acetylglucosaminyltransferase activity|galactosyltransferase activity			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	8	all_cancers(143;8.52e-13)|Ovarian(172;0.0355)		all cancers(12;4.52e-44)|Epithelial(37;8.82e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			AATTTCTTATGACTGCTGATG	0.353000													12	152					0	0	1	0	0
TBC1D8	11138	broad.mit.edu	37	2	101655103	101655103	+	Silent	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr2:101655103C>T	ENST00000409318.1	-	7	1225	c.1095G>A	c.(1093-1095)gaG>gaA	p.E365E	TBC1D8_ENST00000376840.4_Silent_p.E350E	NM_001102426.1	NP_001095896.1	O95759	TBCD8_HUMAN	TBC1 domain family, member 8 (with GRAM domain)	350					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						CCTCCATCTTCTCGATGCTCA	0.557000													11	100					0	0	1	0	0
NEDD1	121441	broad.mit.edu	37	12	97345758	97345758	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr12:97345758C>G	ENST00000266742.4	+	16	2249	c.1910C>G	c.(1909-1911)tCa>tGa	p.S637*	NEDD1_ENST00000557644.1_Nonsense_Mutation_p.S644*|NEDD1_ENST00000429527.2_Nonsense_Mutation_p.S637*|NEDD1_ENST00000411739.2_Nonsense_Mutation_p.S548*|NEDD1_ENST00000457368.2_Nonsense_Mutation_p.S548*	NM_152905.3	NP_690869.1	Q8NHV4	NEDD1_HUMAN	neural precursor cell expressed, developmentally down-regulated 1	637					cell division|G2/M transition of mitotic cell cycle|mitosis	cytosol				breast(2)|endometrium(1)|kidney(2)|large_intestine(9)|lung(8)	22						GAAAGATACTCAGTGAATGAA	0.318000													6	60					0	0	1	0	0
GNAO1	2775	broad.mit.edu	37	16	56388944	56388944	+	Silent	SNP	C	C	G			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr16:56388944C>G	ENST00000262493.6	+	8	1890	c.1044C>G	c.(1042-1044)ctC>ctG	p.L348L		NM_020988.2	NP_066268.1	P09471	GNAO_HUMAN	guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O	348					dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|muscle contraction	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|metabotropic serotonin receptor binding|signal transducer activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)	17		all_neural(199;0.159)				CCAACAACCTCCGGGGCTGCG	0.502000													6	71					0	0	1	0	0
EPHA5	2044	broad.mit.edu	37	4	66280023	66280023	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr4:66280023C>T	ENST00000273854.3	-	7	2266	c.1666G>A	c.(1666-1668)Gag>Aag	p.E556K	EPHA5_ENST00000511294.1_Missense_Mutation_p.E556K|EPHA5_ENST00000354839.4_Missense_Mutation_p.E556K|EPHA5_ENST00000432638.2_Missense_Mutation_p.E392K	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	556	Fibronectin type-III 2.				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						GTTTCAAACTCAAATCTTCGA	0.438000										TSP Lung(17;0.13)			9	74					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82579161	82579161	+	Silent	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr7:82579161C>T	ENST00000333891.9	-	6	11080	c.10743G>A	c.(10741-10743)ctG>ctA	p.L3581L	PCLO_ENST00000437081.1_Silent_p.L301L|PCLO_ENST00000423517.2_Silent_p.L3581L	NM_033026.5	NP_149015.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein						cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						ATGTGGCACTCAGATATTGAG	0.438000													7	52					0	0	1	0	0
ETV1	2115	broad.mit.edu	37	7	14028311	14028311	+	Silent	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr7:14028311C>T	ENST00000405358.4	-	1	187	c.81G>A	c.(79-81)aaG>aaA	p.K27K	ETV1_ENST00000405218.2_Intron|ETV1_ENST00000242066.5_Intron|ETV1_ENST00000430479.1_Intron|ETV1_ENST00000343495.5_Intron|ETV1_ENST00000405192.2_Intron|ETV1_ENST00000403685.1_Intron			P50549	ETV1_HUMAN	ets variant 1	0					transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		TMPRSS2/ETV1(34)|ACSL3_ENST00000357430/ETV1(2)|EWSR1/ETV1(7)|KLK2/ETV1(3)|SLC45A3/ETV1(3)|HNRNPA2B1/ETV1(8)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31						CAACTTCATTCTTTTCAATGT	0.368000			T	"""EWSR1, TMPRSS2, SLC45A3, C15orf21, HNRNPA2B1. ACSL3"""	"""Ewing sarcoma, prostate"""								10	123					0	0	1	0	0
CCDC147	159686	broad.mit.edu	37	10	106139900	106139900	+	Silent	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr10:106139900G>A	ENST00000369704.3	+	9	1421	c.1287G>A	c.(1285-1287)caG>caA	p.Q429Q	CCDC147_ENST00000369703.1_Silent_p.Q51Q|CCDC147_ENST00000312902.5_Silent_p.Q51Q	NM_001008723.1	NP_001008723.1	Q5T655	CC147_HUMAN	coiled-coil domain containing 147	429										NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	52		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)		ATGAGGCTCAGAAGCAGAGAA	0.488000													17	68					0	0	1	0	0
PPM1M	132160	broad.mit.edu	37	3	52282434	52282434	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr3:52282434G>C	ENST00000296487.4	+	6	800	c.396G>C	c.(394-396)caG>caC	p.Q132H	PPM1M_ENST00000409502.3_Missense_Mutation_p.Q81H|PPM1M_ENST00000323588.4_Missense_Mutation_p.Q132H|PPM1M_ENST00000457351.2_Missense_Mutation_p.Q293H			Q96MI6	PPM1M_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1M	132	PP2C-like.				protein dephosphorylation	nucleus	CTD phosphatase activity|manganese ion binding			prostate(1)|urinary_tract(1)	2				BRCA - Breast invasive adenocarcinoma(193;2.4e-05)|Kidney(197;0.00171)|KIRC - Kidney renal clear cell carcinoma(197;0.00194)		ACTTGGGACAGAAGGTTTTGT	0.612000													3	27					0	0	1	0	0
ZNF208	7757	broad.mit.edu	37	19	22156369	22156369	+	Silent	SNP	T	T	C			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr19:22156369T>C	ENST00000397126.4	-	4	1615	c.1467A>G	c.(1465-1467)gcA>gcG	p.A489A	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	NM_007153.3	NP_009084.2			zinc finger protein 208											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				CAGCATGAGTTGCCTTATCAC	0.378000													14	63					0	0	1	0	0
HECTD1	25831	broad.mit.edu	37	14	31598386	31598386	+	Silent	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr14:31598386G>A	ENST00000399332.1	-	25	4679	c.4191C>T	c.(4189-4191)atC>atT	p.I1397I	HECTD1_ENST00000553700.1_Silent_p.I1397I	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	1397	Ser-rich.				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)		AACCCAAGCTGATGTCGCTGC	0.458000													12	183					0	0	1	0	0
RAD54L2	23132	broad.mit.edu	37	3	51664777	51664777	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr3:51664777G>A	ENST00000409535.2	+	6	780	c.655G>A	c.(655-657)Gaa>Aaa	p.E219K	RAD54L2_ENST00000296477.3_5'UTR	NM_015106.2	NP_055921.2	Q9Y4B4	ARIP4_HUMAN	RAD54-like 2 (S. cerevisiae)							nucleus	ATP binding|DNA binding|helicase activity			NS(2)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|liver(2)|lung(9)|ovary(4)|skin(2)	31				BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896)		GGACAGCAGTGAATCTGTCAG	0.488000													4	36					0	0	1	0	0
SVIL	6840	broad.mit.edu	37	10	29747179	29747179	+	Silent	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr10:29747179G>A	ENST00000375398.2	-	40	7091	c.6642C>T	c.(6640-6642)ttC>ttT	p.F2214F	PTCHD3P1_ENST00000438202.1_RNA|PTCHD3P1_ENST00000455774.1_RNA|PTCHD3P1_ENST00000430295.1_RNA|PTCHD3P1_ENST00000413405.1_RNA|PTCHD3P1_ENST00000445521.1_RNA|SVIL_ENST00000355867.4_Silent_p.F2214F|PTCHD3P1_ENST00000423223.1_RNA|PTCHD3P1_ENST00000414457.1_RNA|SVIL_ENST00000375400.3_Silent_p.F1788F|PTCHD3P1_ENST00000446807.1_RNA|SVIL_ENST00000535393.1_Silent_p.F1128F			O95425	SVIL_HUMAN	supervillin	2214	HP.				cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				TCCCCACTCAGAACAGGCCTT	0.502000													3	62					0	0	1	0	0
HAO2	51179	broad.mit.edu	37	1	119936422	119936422	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr1:119936422G>T	ENST00000361035.4	+	9	1337	c.1054G>T	c.(1054-1056)Gct>Tct	p.A352S	HAO2_ENST00000482991.1_3'UTR|HAO2_ENST00000325945.3_Missense_Mutation_p.A339S			Q9NYQ3	HAOX2_HUMAN	hydroxyacid oxidase 2 (long chain)	339					fatty acid alpha-oxidation	peroxisome	(S)-2-hydroxy-acid oxidase activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.0155)|LUSC - Lung squamous cell carcinoma(189;0.0856)		CCGGTCGGTCGCTGAGATCAA	0.478000													11	168					0.000151284	0.000158043	1	1	0
GRM3	2913	broad.mit.edu	37	7	86469220	86469220	+	Splice_Site	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr7:86469220G>A	ENST00000361669.2	+	4	3489	c.2390G>A	c.(2389-2391)aGa>aAa	p.R797K	GRM3_ENST00000394720.2_Intron|GRM3_ENST00000439827.1_Intron|GRM3_ENST00000536043.1_Splice_Site_p.R669K|GRM3_ENST00000546348.1_Splice_Site_p.R389K	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	797					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)	AGTGACTACAGAGTAAGTCTT	0.353000													5	74					0	0	1	0	0
CNNM4	26504	broad.mit.edu	37	2	97475114	97475114	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr2:97475114C>T	ENST00000377075.2	+	7	2286	c.2188C>T	c.(2188-2190)Cag>Tag	p.Q730*	CNNM4_ENST00000540067.1_Missense_Mutation_p.S246L	NM_020184.3	NP_064569.3	Q6P4Q7	CNNM4_HUMAN	cyclin M4	730					biomineral tissue development|ion transport|response to stimulus|visual perception	integral to membrane|plasma membrane		p.Q730*(1)		breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	20						GAACAGCCCTCAGTTTCCCAT	0.577000													5	40					0	0	1	0	0
ITIH3	3699	broad.mit.edu	37	3	52835027	52835027	+	Silent	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr3:52835027C>T	ENST00000449956.2	+	11	1254	c.1248C>T	c.(1246-1248)atC>atT	p.I416I	ITIH3_ENST00000465243.2_3'UTR|ITIH3_ENST00000416872.2_Silent_p.I416I	NM_002217.3	NP_002208.3	Q06033	ITIH3_HUMAN	inter-alpha-trypsin inhibitor heavy chain 3	416	VWFA.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(6)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		GGAATGCCATCGGGGGCAAGT	0.542000													25	172					0	0	1	0	0
EXOC4	60412	broad.mit.edu	37	7	132973814	132973814	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr7:132973814C>G	ENST00000253861.4	+	3	444	c.415C>G	c.(415-417)Caa>Gaa	p.Q139E	EXOC4_ENST00000393161.2_Missense_Mutation_p.Q139E|EXOC4_ENST00000539845.1_Missense_Mutation_p.Q38E	NM_021807.3	NP_068579.3	Q96A65	EXOC4_HUMAN	exocyst complex component 4	139					vesicle docking involved in exocytosis	exocyst	protein N-terminus binding			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	50		Esophageal squamous(399;0.129)				GCAAGTGCCTCAAAAGCTGGA	0.443000													8	40					0	0	1	0	0
TFCP2	7024	broad.mit.edu	37	12	51512521	51512521	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr12:51512521C>T	ENST00000307660.4	-	2	877	c.157G>A	c.(157-159)Gag>Aag	p.E53K	TFCP2_ENST00000257915.5_Missense_Mutation_p.E53K|TFCP2_ENST00000549867.1_Missense_Mutation_p.E53K|TFCP2_ENST00000548115.1_Missense_Mutation_p.E53K	NM_001173453.1	NP_001166924.1	Q12800	TFCP2_HUMAN	transcription factor CP2	53					regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)	23						AAACTCGACTCTTCTTGCTTA	0.398000													6	115					0	0	1	0	0
MYOM3	127294	broad.mit.edu	37	1	24418668	24418668	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr1:24418668C>T	ENST00000330966.7	-	11	1393	c.1231G>A	c.(1231-1233)Gag>Aag	p.E411K	MYOM3_ENST00000374434.3_Missense_Mutation_p.E410K|MYOM3_ENST00000475306.1_5'UTR|MYOM3_ENST00000329601.7_Missense_Mutation_p.E410K			Q5VTT5	MYOM3_HUMAN	myomesin 3	410	Fibronectin type-III 1.									NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		ACTCACCGCTCAATGGTGTAG	0.602000													10	75					0	0	1	0	0
ZFC3H1	196441	broad.mit.edu	37	12	72022749	72022749	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr12:72022749C>G	ENST00000378743.3	-	20	4253	c.3895G>C	c.(3895-3897)Gat>Cat	p.D1299H		NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	1299					RNA processing	intracellular	metal ion binding			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						AAGCTATTATCTGAAATAGGT	0.328000													3	42					0	0	1	0	0
PCDHGA2	56113	broad.mit.edu	37	5	140719466	140719466	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr5:140719466G>A	ENST00000394576.2	+	1	928	c.928G>A	c.(928-930)Gag>Aag	p.E310K	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)			TCTAGATTATGAGGATGCTAC	0.413000													13	176					0	0	1	0	0
PLEKHM1P	440456	broad.mit.edu	37	17	62782704	62782704	+	RNA	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr17:62782704C>T	ENST00000582986.1	-	0	2345					NR_024386.1																						GTGTCAAACTCAGAGGGGAAG	0.602000													6	42					0	0	1	0	0
GNB1	2782	broad.mit.edu	37	1	1749278	1749278	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr1:1749278G>T	ENST00000378609.4	-	4	425	c.94C>A	c.(94-96)Cag>Aag	p.Q32K		NM_001282539.1|NM_002074.3	NP_001269468.1|NP_002065.1	P62873	GBB1_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 1	32					cellular response to glucagon stimulus|energy reserve metabolic process|muscarinic acetylcholine receptor signaling pathway|platelet activation|Ras protein signal transduction|synaptic transmission	heterotrimeric G-protein complex	GTPase activity|GTPase binding|signal transducer activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	12	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.62e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;1.14e-35)|OV - Ovarian serous cystadenocarcinoma(86;7.31e-23)|GBM - Glioblastoma multiforme(42;3.1e-07)|COAD - Colon adenocarcinoma(227;0.000323)|Colorectal(212;0.000374)|Kidney(185;0.00392)|BRCA - Breast invasive adenocarcinoma(365;0.00573)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.0482)|Lung(427;0.236)		GCTCTTACCTGAGAGAGAGTT	0.547000													3	58					0.00909568	0.00929441	1	1	0
ZNRF4	148066	broad.mit.edu	37	19	5455804	5455804	+	Missense_Mutation	SNP	G	G	A	rs141487677	by1000genomes	TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr19:5455804G>A	ENST00000222033.4	+	1	379	c.302G>A	c.(301-303)cGg>cAg	p.R101Q		NM_181710.3	NP_859061.3	Q8WWF5	ZNRF4_HUMAN	zinc and ring finger 4	101						integral to membrane	zinc ion binding			NS(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;0.0002)		GCAGTGGTACGGGCCGTGCTG	0.692000													18	76					0	0	1	0	0
IFRD2	7866	broad.mit.edu	37	3	50327428	50327428	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr3:50327428G>A	ENST00000436390.1	-	8	975	c.478C>T	c.(478-480)Cac>Tac	p.H160Y	IFRD2_ENST00000417626.2_Missense_Mutation_p.H160Y|IFRD2_ENST00000429673.2_Missense_Mutation_p.H224Y|IFRD2_ENST00000336089.4_Missense_Mutation_p.H326Y			Q12894	IFRD2_HUMAN	interferon-related developmental regulator 2	224							binding			breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	14				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		TGCAGGCTGTGAAACAGCTCC	0.637000													5	14					0	0	1	0	0
ICMT	23463	broad.mit.edu	37	1	6293642	6293642	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr1:6293642G>A	ENST00000343813.5	-	3	374	c.346C>T	c.(346-348)Ccc>Tcc	p.P116S		NM_012405.3	NP_036537.1	O60725	ICMT_HUMAN	isoprenylcysteine carboxyl methyltransferase	116					protein targeting to membrane	endoplasmic reticulum membrane|integral to membrane|membrane fraction	protein C-terminal S-isoprenylcysteine carboxyl O-methyltransferase activity			NS(1)|endometrium(2)	3	Ovarian(185;0.0634)	all_cancers(23;5.85e-39)|all_epithelial(116;2.4e-22)|all_lung(118;2.65e-08)|Lung NSC(185;6.45e-07)|all_neural(13;3.18e-06)|all_hematologic(16;8.99e-06)|Acute lymphoblastic leukemia(12;0.000365)|Breast(487;0.000688)|Renal(390;0.0007)|Colorectal(325;0.00104)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)|Medulloblastoma(700;0.211)		Epithelial(90;5.52e-38)|GBM - Glioblastoma multiforme(13;6.51e-32)|OV - Ovarian serous cystadenocarcinoma(86;3.03e-19)|Colorectal(212;7.08e-08)|COAD - Colon adenocarcinoma(227;8.35e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(365;0.00109)|STAD - Stomach adenocarcinoma(132;0.00313)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.182)		AGACTTTTGGGATTATTGACT	0.398000													6	74					0	0	1	0	0
CEP350	9857	broad.mit.edu	37	1	179989421	179989421	+	Silent	SNP	A	A	C			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr1:179989421A>C	ENST00000367607.3	+	12	2930	c.2512A>C	c.(2512-2514)Aga>Cga	p.R838R		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	838						centrosome|nucleus|spindle				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						TTTGTCCAGCAGAATTGAAAG	0.443000													20	126					0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11522879	11522879	+	Silent	SNP	C	C	G			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr17:11522879C>G	ENST00000262442.4	+	6	1199	c.1131C>G	c.(1129-1131)ctC>ctG	p.L377L	DNAH9_ENST00000454412.2_Silent_p.L377L	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9		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)		CTAATTATCTCAGCCCAGAAG	0.448000													6	93					0	0	1	0	0
BTG4	54766	broad.mit.edu	37	11	111367977	111367977	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr11:111367977G>A	ENST00000525791.1	-	4	653	c.469C>T	c.(469-471)Cgt>Tgt	p.R157C	BTG4_ENST00000356018.2_Missense_Mutation_p.R157C			Q9NY30	BTG4_HUMAN	B-cell translocation gene 4	157					cell cycle arrest|negative regulation of cell proliferation|neuron differentiation					large_intestine(2)|upper_aerodigestive_tract(1)	3		all_cancers(61;3.78e-13)|all_epithelial(67;5.29e-08)|Melanoma(852;3.15e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0204)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;1.22e-06)|BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|all cancers(92;2.18e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0509)		GGAATGACACGAGGTTCCTTG	0.388000													5	125					0	0	1	0	0
NPSR1	387129	broad.mit.edu	37	7	34917785	34917785	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr7:34917785C>T	ENST00000359791.1	+	9	1251	c.1123C>T	c.(1123-1125)Ctt>Ttt	p.L375F	NPSR1_ENST00000531252.1_Missense_Mutation_p.L364F	NM_207173.1	NP_997056.1	Q6W5P4	NPSR1_HUMAN	neuropeptide S receptor 1	0						cytoplasm|integral to membrane|plasma membrane	vasopressin receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7)	31					Halothane(DB01159)	TTCCTGGGCTCTTCCAAGGTG	0.592000													4	17					0	0	1	0	0
AMER3	205147	broad.mit.edu	37	2	131520580	131520580	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr2:131520580G>C	ENST00000423981.1	+	2	1045	c.935G>C	c.(934-936)aGt>aCt	p.S312T	AMER3_ENST00000321420.4_Missense_Mutation_p.S312T	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2			APC membrane recruitment protein 3																		TTCTGGGACAGTGTGAATCGC	0.647000													6	35					0	0	1	0	0
EGF	1950	broad.mit.edu	37	4	110864425	110864425	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr4:110864425G>C	ENST00000265171.5	+	3	788	c.343G>C	c.(343-345)Gag>Cag	p.E115Q	EGF_ENST00000503392.1_Missense_Mutation_p.E115Q|EGF_ENST00000502723.1_3'UTR|EGF_ENST00000509793.1_Missense_Mutation_p.E115Q	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN	epidermal growth factor	115					angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity			breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sulindac(DB00605)	ATGTAATATAGAGAAAAATGT	0.254000													8	69					0	0	1	0	0
C9orf72	203228	broad.mit.edu	37	9	27566843	27566843	+	Silent	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr9:27566843C>T	ENST00000380003.3	-	2	339	c.276G>A	c.(274-276)gtG>gtA	p.V92V	C9orf72_ENST00000488117.1_5'UTR|C9orf72_ENST00000379997.3_Silent_p.V92V	NM_001256054.1|NM_018325.3	NP_001242983.1|NP_060795.1	Q96LT7	CI072_HUMAN	chromosome 9 open reading frame 72	92										breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|ovary(4)|pancreas(1)	23		all_neural(11;7.57e-10)		LUSC - Lung squamous cell carcinoma(38;0.0001)|Lung(218;0.00016)		AAACAATAATCACTCCCTTTT	0.378000													3	39					0	0	1	0	0
PARPBP	55010	broad.mit.edu	37	12	102547708	102547708	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr12:102547708C>G	ENST00000327680.2	+	5	669	c.206C>G	c.(205-207)tCt>tGt	p.S69C	PARPBP_ENST00000392911.2_Missense_Mutation_p.S69C|PARPBP_ENST00000541394.1_Missense_Mutation_p.S227C|PARPBP_ENST00000378128.3_Missense_Mutation_p.S150C|PARPBP_ENST00000535811.1_Intron|PARPBP_ENST00000543784.1_Intron|PARPBP_ENST00000358383.5_Missense_Mutation_p.S150C	NM_017915.3	NP_060385.3	Q9NWS1	PR1BP_HUMAN	PARP1 binding protein	150					response to DNA damage stimulus	cytoplasm|nucleus	DNA binding			endometrium(1)|lung(8)|urinary_tract(2)	11						ACTGATCTTTCTATACCAACA	0.338000													11	76					0	0	1	0	0
SLTM	79811	broad.mit.edu	37	15	59179635	59179635	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr15:59179635C>T	ENST00000380516.2	-	18	2567	c.2480G>A	c.(2479-2481)aGa>aAa	p.R827K	SLTM_ENST00000536328.1_Missense_Mutation_p.R396K	NM_001013843.1|NM_024755.2	NP_001013865.1|NP_079031.2	Q9NWH9	SLTM_HUMAN	SAFB-like, transcription modulator	827	Arg/Glu-rich.				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CTCATTTCTTCTGGAGTCACT	0.463000													17	71					0	0	1	0	0
OR9Q1	219956	broad.mit.edu	37	11	57947223	57947223	+	Silent	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr11:57947223C>T	ENST00000335397.3	+	3	623	c.307C>T	c.(307-309)Ctg>Ttg	p.L103L		NM_001005212.3	NP_001005212.1	Q8NGQ5	OR9Q1_HUMAN	olfactory receptor, family 9, subfamily Q, member 1	103					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Breast(21;0.222)				TCAGTTCTTTCTGTTCACCTT	0.542000													8	64					0	0	1	0	0
MLLT1	4298	broad.mit.edu	37	19	6270699	6270699	+	Silent	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr19:6270699G>A	ENST00000252674.7	-	2	247	c.84C>T	c.(82-84)ttC>ttT	p.F28F		NM_005934.3	NP_005925.2	Q03111	ENL_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1	28	YEATS.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|protein binding			endometrium(3)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|skin(2)	17						AGTCGTGAGTGAACCCCTCCG	0.612000			T	MLL	AL						OREG0025198	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	54					0	0	1	0	0
NADSYN1	55191	broad.mit.edu	37	11	71166203	71166203	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr11:71166203G>C	ENST00000319023.2	+	2	321	c.133G>C	c.(133-135)Gag>Cag	p.E45Q		NM_018161.4	NP_060631.2	Q6IA69	NADE_HUMAN	NAD synthetase 1	45	CN hydrolase.				NAD biosynthetic process|water-soluble vitamin metabolic process	cytosol	ATP binding|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds|NAD+ synthase (glutamine-hydrolyzing) activity|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	25					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	GCTTGGACCAGAGCTGGAAAT	0.473000													8	72					0	0	1	0	0
NCOR1	9611	broad.mit.edu	37	17	15967466	15967466	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr17:15967466C>T	ENST00000268712.3	-	35	5394	c.5137G>A	c.(5137-5139)Gag>Aag	p.E1713K	NCOR1_ENST00000395851.1_Missense_Mutation_p.E1729K|NCOR1_ENST00000395857.3_Missense_Mutation_p.E297K	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	1713	Interaction with C1D (By similarity).|Interaction with ETO.				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		cgttccctctcAGCACTTGCA	0.517000													3	67					0	0	1	0	0
VCAN	1462	broad.mit.edu	37	5	82835572	82835572	+	Silent	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr5:82835572G>A	ENST00000265077.3	+	8	7315	c.6750G>A	c.(6748-6750)gaG>gaA	p.E2250E	VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000342785.4_Intron|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000343200.5_Silent_p.E1263E|VCAN_ENST00000512590.2_Intron|VCAN-AS1_ENST00000512090.1_RNA	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	2250	GAG-beta.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		CAGATACTGAGCTCTTATTCT	0.378000													15	44					0	0	1	0	0
PTGIS	5740	broad.mit.edu	37	20	48124546	48124546	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr20:48124546C>G	ENST00000244043.4	-	10	1443	c.1414G>C	c.(1414-1416)Gag>Cag	p.E472Q	PTGIS_ENST00000478971.1_5'UTR	NM_000961.3	NP_000952.1	Q16647	PTGIS_HUMAN	prostaglandin I2 (prostacyclin) synthase	472					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)	TCAGGGATCTCCACATCTGCG	0.572000													10	72					0	0	1	0	0
SLC4A10	57282	broad.mit.edu	37	2	162813607	162813607	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr2:162813607C>T	ENST00000375514.5	+	20	2880	c.2593C>T	c.(2593-2595)Cat>Tat	p.H865Y	SLC4A10_ENST00000272716.5_Missense_Mutation_p.H854Y|SLC4A10_ENST00000446997.1_Missense_Mutation_p.H884Y|SLC4A10_ENST00000421911.1_Missense_Mutation_p.H884Y|SLC4A10_ENST00000415876.2_Missense_Mutation_p.H854Y	NM_001178016.1	NP_001171487.1	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate transporter, member 10	884					bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						CTCCATCACTCATGTCAATAG	0.493000													3	20					0	0	1	0	0
BRIX1	55299	broad.mit.edu	37	5	34924954	34924954	+	Silent	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr5:34924954C>T	ENST00000336767.5	+	9	1029	c.666C>T	c.(664-666)atC>atT	p.I222I	BRIX1_ENST00000506023.1_3'UTR	NM_018321.3	NP_060791.3	Q8TDN6	BRX1_HUMAN	BRX1, biogenesis of ribosomes, homolog (S. cerevisiae)	222	Brix.				ribosome biogenesis|translation	nucleolus	aminoacyl-tRNA ligase activity|ATP binding|protein binding			central_nervous_system(1)|large_intestine(2)|lung(1)	4						TATTAAAGATCATAGAAGAAG	0.323000													3	48					0	0	1	0	0
STRBP	55342	broad.mit.edu	37	9	125909232	125909232	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr9:125909232G>T	ENST00000447404.2	-	12	1544	c.1240C>A	c.(1240-1242)Cat>Aat	p.H414N	STRBP_ENST00000348403.5_Missense_Mutation_p.H414N|STRBP_ENST00000360998.3_Missense_Mutation_p.H400N			Q96SI9	STRBP_HUMAN	spermatid perinuclear RNA binding protein	414	DRBM 1.				multicellular organismal development	cytoplasm|nucleus	DNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(6)|prostate(1)|skin(2)	26						ACTGGGGCATGAACGGGGCCA	0.463000													13	114					3.27435e-08	3.54867e-08	1	1	0
TG	7038	broad.mit.edu	37	8	133880419	133880419	+	Silent	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr8:133880419C>T	ENST00000220616.4	+	2	167	c.127C>T	c.(127-129)Ctg>Ttg	p.L43L	TG_ENST00000377869.1_Silent_p.L43L	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	43	Thyroglobulin type-1 1.				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)		AACGGCCTTTCTGAAGCAAGC	0.517000													9	83					0	0	1	0	0
NR1D1	9572	broad.mit.edu	37	17	38250311	38250311	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr17:38250311C>T	ENST00000246672.3	-	7	2129	c.1499G>A	c.(1498-1500)cGc>cAc	p.R500H		NM_021724.3	NP_068370.1	P20393	NR1D1_HUMAN	nuclear receptor subfamily 1, group D, member 1	500					cellular response to lipopolysaccharide|negative regulation of receptor biosynthetic process|negative regulation of toll-like receptor 4 signaling pathway|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nuclear chromatin|nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(1)|large_intestine(5)|lung(2)|skin(1)|upper_aerodigestive_tract(2)	11	Colorectal(19;0.000442)					GTAGGTGGTGCGGCTTAGGAA	0.572000													17	170					0	0	1	0	0
DLGAP1	9229	broad.mit.edu	37	18	3879141	3879141	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr18:3879141G>A	ENST00000315677.3	-	4	1523	c.928C>T	c.(928-930)Cag>Tag	p.Q310*	DLGAP1_ENST00000581527.1_Nonsense_Mutation_p.Q310*|DLGAP1_ENST00000515196.2_Nonsense_Mutation_p.Q310*|DLGAP1_ENST00000584874.1_Nonsense_Mutation_p.Q310*|DLGAP1-AS3_ENST00000577649.1_RNA	NM_004746.3	NP_004737.2	O14490	DLGP1_HUMAN	discs, large (Drosophila) homolog-associated protein 1	310					synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56		Colorectal(8;0.0257)				CGTTCTTGCTGACACGACTCG	0.577000													10	97					0	0	1	0	0
HTR2B	3357	broad.mit.edu	37	2	231988456	231988456	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr2:231988456G>C	ENST00000258400.3	-	2	535	c.23C>G	c.(22-24)tCt>tGt	p.S8C	PSMD1_ENST00000409643.1_Intron|PSMD1_ENST00000373635.4_Intron|PSMD1_ENST00000308696.6_Intron	NM_000867.4	NP_000858.3	P41595	5HT2B_HUMAN	5-hydroxytryptamine (serotonin) receptor 2B, G protein-coupled	8					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cardiac muscle hypertrophy|cellular response to calcium ion|cellular response to temperature stimulus|cGMP biosynthetic process|embryonic morphogenesis|ERK1 and ERK2 cascade|G-protein coupled receptor internalization|heart morphogenesis|intestine smooth muscle contraction|negative regulation of apoptosis|negative regulation of autophagy|neural crest cell migration|phosphatidylinositol 3-kinase cascade|phosphatidylinositol biosynthetic process|phosphorylation|positive regulation of cell division|positive regulation of cytokine production|positive regulation of cytokine secretion|positive regulation of endothelial cell proliferation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAP kinase activity|positive regulation of nitric-oxide synthase activity|protein kinase C signaling cascade|regulation of behavior|release of sequestered calcium ion into cytosol|response to drug|vasoconstriction	cytoplasm|integral to membrane|plasma membrane	calcium channel activity|drug binding|G-protein alpha-subunit binding|phosphatidylinositol phospholipase C activity|Ras GTPase activator activity|serotonin binding|serotonin receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1)	11		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)|Medulloblastoma(418;0.232)		Epithelial(121;4.48e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0141)	Chlorprothixene(DB01239)|Eletriptan(DB00216)|Fenfluramine(DB00574)|Methotrimeprazine(DB01403)|Minaprine(DB00805)|Quetiapine(DB01224)|Sumatriptan(DB00669)|Tegaserod(DB01079)|Triflupromazine(DB00508)	TTGAAGTTCAGACACTCTGTA	0.423000													15	111					0	0	1	0	0
ADAMTS16	170690	broad.mit.edu	37	5	5239387	5239387	+	Splice_Site	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr5:5239387C>T	ENST00000274181.7	+	15	2416	c.2278C>T	c.(2278-2280)Cag>Tag	p.Q760*		NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	760	Spacer.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						CCACACCAACCGTGAGTACTT	0.512000													16	120					0	0	1	0	0
TMEM106C	79022	broad.mit.edu	37	12	48361983	48361983	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr12:48361983G>T	ENST00000429772.2	+	8	837	c.724G>T	c.(724-726)Gat>Tat	p.D242Y	TMEM106C_ENST00000256686.6_Missense_Mutation_p.D223Y|TMEM106C_ENST00000449758.2_Missense_Mutation_p.D223Y|TMEM106C_ENST00000552561.1_Missense_Mutation_p.D242Y|TMEM106C_ENST00000549288.1_3'UTR|TMEM106C_ENST00000552546.1_Missense_Mutation_p.D171Y|TMEM106C_ENST00000550552.1_Missense_Mutation_p.D223Y	NM_001143842.1	NP_001137314.1	Q9BVX2	T106C_HUMAN	transmembrane protein 106C	242						endoplasmic reticulum membrane|integral to membrane				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|skin(3)|upper_aerodigestive_tract(1)	14		Acute lymphoblastic leukemia(13;0.11)		GBM - Glioblastoma multiforme(48;0.241)		TCACTATGTGGATTGTGGAGG	0.428000													10	70					4.36969e-10	4.77837e-10	1	1	0
TSSK2	23617	broad.mit.edu	37	22	19118990	19118990	+	Silent	SNP	C	C	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr22:19118990C>A	ENST00000399635.2	+	1	670	c.78C>A	c.(76-78)gtC>gtA	p.V26V	DGCR14_ENST00000252137.6_3'UTR	NM_053006.4	NP_443732.3	Q96PF2	TSSK2_HUMAN	testis-specific serine kinase 2	26	Protein kinase.				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			endometrium(2)|large_intestine(2)|lung(2)|prostate(4)|stomach(1)	11	Colorectal(54;0.0993)					ACGCAAAAGTCAAATCTGCCT	0.522000													6	45					0.0215528	0.0218766	1	1	0
KIF3A	11127	broad.mit.edu	37	5	132046656	132046656	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr5:132046656C>T	ENST00000378746.4	-	9	1441	c.1223G>A	c.(1222-1224)aGa>aAa	p.R408K	AC004237.1_ENST00000431165.1_RNA|KIF3A_ENST00000378735.1_Missense_Mutation_p.R408K|KIF3A_ENST00000403231.1_Missense_Mutation_p.R408K	NM_007054.5	NP_008985.3	Q9Y496	KIF3A_HUMAN	kinesin family member 3A	408					blood coagulation|organelle organization|plus-end-directed vesicle transport along microtubule	centrosome|cytosol|kinesin II complex|spindle microtubule	ATP binding|plus-end-directed microtubule motor activity|protein binding			endometrium(1)|kidney(4)|large_intestine(8)|lung(3)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	25		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CTTACCCCTTCTTTTTTTCCT	0.388000													4	112					0	0	1	0	0
FUT8	2530	broad.mit.edu	37	14	66208977	66208977	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr14:66208977G>C	ENST00000360689.5	+	11	3304	c.1577G>C	c.(1576-1578)gGa>gCa	p.G526A	FUT8_ENST00000358307.2_Missense_Mutation_p.G397A|FUT8_ENST00000394585.1_Missense_Mutation_p.G526A|FUT8_ENST00000394586.2_Missense_Mutation_p.G526A|FUT8_ENST00000417683.1_Missense_Mutation_p.G120A|FUT8_ENST00000557164.1_Missense_Mutation_p.G363A	NM_004480.4|NM_178155.2	NP_004471.4|NP_835368.1	Q9BYC5	FUT8_HUMAN	fucosyltransferase 8 (alpha (1,6) fucosyltransferase)	526	SH3.				in utero embryonic development|L-fucose catabolic process|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein glycosylation in Golgi|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	glycoprotein 6-alpha-L-fucosyltransferase activity|SH3 domain binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	22				all cancers(60;0.00109)|OV - Ovarian serous cystadenocarcinoma(108;0.00242)|BRCA - Breast invasive adenocarcinoma(234;0.0114)		ATGGAACCTGGAGATATCATT	0.453000													13	128					0	0	1	0	0
FBN2	2201	broad.mit.edu	37	5	127704904	127704904	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr5:127704904G>A	ENST00000508053.1	-	22	3193	c.2219C>T	c.(2218-2220)cCc>cTc	p.P740L	FBN2_ENST00000511489.1_5'UTR|FBN2_ENST00000262464.4_Missense_Mutation_p.P740L|FBN2_ENST00000508989.1_Missense_Mutation_p.P707L			P35556	FBN2_HUMAN	fibrillin 2	740	TB 3.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		TGGCTGGCAGGGTTCTCCAAA	0.463000													20	67					0	0	1	0	0
SPATA31D5P	347127	broad.mit.edu	37	9	84532195	84532195	+	RNA	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr9:84532195C>T	ENST00000527857.1	+	0	2217					NR_026851.1																						CTATCTGTGTCAGACAGCATT	0.498000													5	21					0	0	1	0	0
ATP13A4	84239	broad.mit.edu	37	3	193176856	193176856	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr3:193176856G>A	ENST00000295548.3	-	14	1687	c.1688C>T	c.(1687-1689)tCt>tTt	p.S563F	ATP13A4_ENST00000342695.4_Intron|ATP13A4_ENST00000392443.3_Intron			Q4VNC1	AT134_HUMAN	ATPase type 13A4	563					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		ATTCTCTGAAGAGCAGAGGCT	0.468000													4	96					0	0	1	0	0
TIGD6	81789	broad.mit.edu	37	5	149375650	149375650	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr5:149375650C>A	ENST00000296736.3	-	2	1036	c.262G>T	c.(262-264)Gaa>Taa	p.E88*	TIGD6_ENST00000515406.2_Nonsense_Mutation_p.E88*	NM_030953.3	NP_112215.1	Q17RP2	TIGD6_HUMAN	tigger transposable element derived 6	88	HTH CENPB-type.				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|stomach(1)	10			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			GCATGGATTTCTTGAAACCAA	0.443000													28	207					1.62565e-12	1.79057e-12	1	1	0
LRRC40	55631	broad.mit.edu	37	1	70618118	70618118	+	Silent	SNP	G	G	C			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr1:70618118G>C	ENST00000370952.3	-	12	1516	c.1437C>G	c.(1435-1437)ctC>ctG	p.L479L		NM_017768.4	NP_060238.3	Q9H9A6	LRC40_HUMAN	leucine rich repeat containing 40	479										breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(2)	27						ATAAATACCTGAGATCTAAAA	0.294000													4	33					0	0	1	0	0
TGFBR3	7049	broad.mit.edu	37	1	92185617	92185617	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr1:92185617C>T	ENST00000212355.4	-	9	1711	c.1246G>A	c.(1246-1248)Gag>Aag	p.E416K	TGFBR3_ENST00000525962.1_Missense_Mutation_p.E416K|TGFBR3_ENST00000370399.2_Missense_Mutation_p.E415K	NM_001195683.1|NM_003243.4	NP_001182612.1|NP_003234.2	Q03167	TGBR3_HUMAN	transforming growth factor, beta receptor III	416					BMP signaling pathway|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cell growth|cell migration|definitive erythrocyte differentiation|heart trabecula formation|immune response|intracellular protein kinase cascade|liver development|negative regulation of cellular component movement|negative regulation of epithelial cell proliferation|palate development|pathway-restricted SMAD protein phosphorylation|response to follicle-stimulating hormone stimulus|response to luteinizing hormone stimulus|response to prostaglandin E stimulus|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis	external side of plasma membrane|extracellular space|inhibin-betaglycan-ActRII complex|integral to plasma membrane|intracellular membrane-bounded organelle	coreceptor activity|heparin binding|PDZ domain binding|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type III|type II transforming growth factor beta receptor binding			endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3)	55		all_lung(203;0.00719)|Lung NSC(277;0.0268)		all cancers(265;0.0108)|Epithelial(280;0.0825)		TCTTCTCCCTCTTCATTCCAG	0.577000													7	84					0	0	1	0	0
UBB	7314	broad.mit.edu	37	17	16285788	16285788	+	Silent	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr17:16285788C>T	ENST00000302182.3	+	2	959	c.567C>T	c.(565-567)ccC>ccT	p.P189P	UBB_ENST00000578649.1_3'UTR|RP11-138I1.4_ENST00000583934.1_RNA|UBB_ENST00000535788.1_Silent_p.P113P|UBB_ENST00000395839.1_Silent_p.P189P|UBB_ENST00000395837.1_Silent_p.P189P	NM_001281720.1|NM_018955.3	NP_001268649.1|NP_061828.1	P0CG47	UBB_HUMAN	ubiquitin B	189	Ubiquitin-like 3.				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|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|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding	p.P189P(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)		AAGGCATCCCCCCCGACCAGC	0.552000													3	61					0	0	1	0	0
FHOD1	29109	broad.mit.edu	37	16	67265134	67265134	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr16:67265134G>C	ENST00000258201.4	-	17	2871	c.2624C>G	c.(2623-2625)tCt>tGt	p.S875C		NM_013241.2	NP_037373.2	Q9Y613	FHOD1_HUMAN	formin homology 2 domain containing 1	875	FH2.				actin cytoskeleton organization	cytoplasm|cytoskeleton|nucleus	actin binding			breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	34		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)		ATAGAGGTCAGAGGACTCAGG	0.582000													7	46					0	0	1	0	0
BTNL9	153579	broad.mit.edu	37	5	180475178	180475178	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr5:180475178C>T	ENST00000327705.9	+	3	592	c.361C>T	c.(361-363)Cac>Tac	p.H121Y	BTNL9_ENST00000515271.1_Missense_Mutation_p.H52Y|BTNL9_ENST00000376842.3_Missense_Mutation_p.H121Y|BTNL9_ENST00000376841.2_Missense_Mutation_p.H121Y	NM_152547.4	NP_689760.2	Q6UXG8	BTNL9_HUMAN	butyrophilin-like 9	121	Ig-like V-type.					integral to membrane				breast(2)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(10)|ovary(1)	19	all_cancers(89;2.45e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCTGCAGCTTCACAGCATCAT	0.607000													5	32					0	0	1	0	0
NOV	4856	broad.mit.edu	37	8	120430374	120430374	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr8:120430374C>A	ENST00000259526.3	+	3	614	c.387C>A	c.(385-387)ttC>ttA	p.F129L		NM_002514.3	NP_002505.1	P48745	NOV_HUMAN	nephroblastoma overexpressed	129	VWFC.				regulation of cell growth		growth factor activity|insulin-like growth factor binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|skin(3)	21	all_cancers(13;3.84e-26)|Lung NSC(37;1.19e-08)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.000507)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GCTGCAAATTCCAGTGCACCT	0.527000													9	56					1.12685e-05	1.1936e-05	1	1	0
RYR2	6262	broad.mit.edu	37	1	237819281	237819281	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr1:237819281C>G	ENST00000366574.2	+	53	8443	c.8126C>G	c.(8125-8127)tCa>tGa	p.S2709*	RYR2_ENST00000360064.6_Nonsense_Mutation_p.S2707*|RYR2_ENST00000542537.1_Nonsense_Mutation_p.S2693*	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2709	4 X approximate repeats.|Modulator (Potential).				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)			GTTGATACCTCAAAGTATGGA	0.358000													5	22					0	0	1	0	0
IL1RL1	9173	broad.mit.edu	37	2	102968151	102968151	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr2:102968151G>A	ENST00000233954.1	+	11	1712	c.1441G>A	c.(1441-1443)Gag>Aag	p.E481K		NM_016232.4	NP_057316.3	Q01638	ILRL1_HUMAN	interleukin 1 receptor-like 1	481	TIR.				innate immune response	integral to membrane	interleukin-1 receptor activity|receptor signaling protein activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(3)|urinary_tract(1)	16						GATACTTATTGAGATGGAGGC	0.552000													8	66					0	0	1	0	0
PPP6R3	55291	broad.mit.edu	37	11	68377463	68377463	+	Silent	SNP	A	A	C			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr11:68377463A>C	ENST00000393799.2	+	24	2827	c.2560A>C	c.(2560-2562)Agg>Cgg	p.R854R	PPP6R3_ENST00000524904.1_Silent_p.R842R|PPP6R3_ENST00000265637.4_Silent_p.R802R|PPP6R3_ENST00000265636.5_Silent_p.R768R|PPP6R3_ENST00000529710.1_Silent_p.R768R|PPP6R3_ENST00000527403.2_Silent_p.R813R|PPP6R3_ENST00000534534.1_Silent_p.R616R|PPP6R3_ENST00000524845.1_Silent_p.R819R|PPP6R3_ENST00000393800.2_Silent_p.R848R|PPP6R3_ENST00000393801.3_Silent_p.R854R			Q5H9R7	PP6R3_HUMAN	protein phosphatase 6, regulatory subunit 3	848					regulation of phosphoprotein phosphatase activity	cytoplasm|nucleus	protein phosphatase binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(10)|liver(2)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						CGCGGCGCCCAGGCCTCCCAG	0.612000													7	40					0	0	1	0	0
ZNF543	125919	broad.mit.edu	37	19	57840469	57840469	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr19:57840469G>A	ENST00000321545.4	+	4	1984	c.1639G>A	c.(1639-1641)Ggc>Agc	p.G547S		NM_213598.3	NP_998763.2	Q08ER8	ZN543_HUMAN	zinc finger protein 543	547					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G547R(1)		breast(1)|kidney(2)|large_intestine(8)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	28		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;0.0257)		TTTTAATCGCGGCTCATCCCT	0.463000													5	74					0	0	1	0	0
ZNF35	7584	broad.mit.edu	37	3	44700638	44700638	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr3:44700638G>C	ENST00000396056.2	+	4	1018	c.783G>C	c.(781-783)caG>caC	p.Q261H	ZNF35_ENST00000542250.1_Missense_Mutation_p.Q101H|ZNF35_ENST00000296092.3_3'UTR|RP11-944L7.4_ENST00000457331.1_RNA	NM_003420.3	NP_003411.3	P13682	ZNF35_HUMAN	zinc finger protein 35	261					cellular response to retinoic acid|spermatogenesis	nucleus|perinuclear region of cytoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(3)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	12		Ovarian(412;0.0228)		OV - Ovarian serous cystadenocarcinoma(275;2.49e-27)|KIRC - Kidney renal clear cell carcinoma(197;0.0475)|Kidney(197;0.0595)		CCTTCATTCAGAGTGCAAACC	0.458000													7	55					0	0	1	0	0
KIF3A	11127	broad.mit.edu	37	5	132052130	132052130	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr5:132052130G>A	ENST00000378746.4	-	7	979	c.761C>T	c.(760-762)tCa>tTa	p.S254L	AC004237.1_ENST00000431165.1_RNA|KIF3A_ENST00000378735.1_Missense_Mutation_p.S254L|KIF3A_ENST00000403231.1_Missense_Mutation_p.S254L	NM_007054.5	NP_008985.3	Q9Y496	KIF3A_HUMAN	kinesin family member 3A	254	Kinesin-motor.				blood coagulation|organelle organization|plus-end-directed vesicle transport along microtubule	centrosome|cytosol|kinesin II complex|spindle microtubule	ATP binding|plus-end-directed microtubule motor activity|protein binding			endometrium(1)|kidney(4)|large_intestine(8)|lung(3)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	25		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CTGTCTTTCTGAACCCTAGCA	0.328000													4	58					0	0	1	0	0
SERPINA6	866	broad.mit.edu	37	14	94780794	94780794	+	Silent	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr14:94780794G>A	ENST00000341584.3	-	2	338	c.192C>T	c.(190-192)ttC>ttT	p.F64F		NM_001756.3	NP_001747	P08185	CBG_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6	64					regulation of proteolysis|transport	extracellular space	serine-type endopeptidase inhibitor activity|steroid binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	26		all_cancers(154;0.0482)|all_epithelial(191;0.166)		COAD - Colon adenocarcinoma(157;0.211)	Alclometasone(DB00240)|Beclomethasone(DB00394)|Ciclesonide(DB01410)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Medrysone(DB00253)|Mitotane(DB00648)|Paramethasone(DB01384)|Prednisolone(DB00860)|Rimexolone(DB00896)|Triamcinolone(DB00620)	CAGGGGAGATGAAAATGTTCT	0.552000													7	44					0	0	1	0	0
PEX7	5191	broad.mit.edu	37	6	137167279	137167279	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr6:137167279C>G	ENST00000541292.1	+	5	572	c.486C>G	c.(484-486)atC>atG	p.I162M	PEX7_ENST00000318471.4_Missense_Mutation_p.I162M			O00628	PEX7_HUMAN	peroxisomal biogenesis factor 7	162					ether lipid biosynthetic process|protein import into peroxisome matrix	peroxisome	peroxisome matrix targeting signal-2 binding			lung(7)|prostate(1)	8	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000257)|OV - Ovarian serous cystadenocarcinoma(155;0.00492)		ATAGCACAATCTGGTCTCCCC	0.388000													5	64					0	0	1	0	0
KLF5	688	broad.mit.edu	37	13	73636090	73636090	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr13:73636090C>T	ENST00000377687.4	+	2	889	c.353C>T	c.(352-354)tCa>tTa	p.S118L	KLF5_ENST00000477333.1_3'UTR|KLF5_ENST00000539231.1_Missense_Mutation_p.S27L	NM_001730.3	NP_001721.2	Q13887	KLF5_HUMAN	Kruppel-like factor 5 (intestinal)	118					transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			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)		GACAGTGCCTCAGTCGTAGAC	0.443000													17	243					0	0	1	0	0
HELZ	9931	broad.mit.edu	37	17	65197255	65197255	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr17:65197255G>C	ENST00000358691.5	-	7	585	c.419C>G	c.(418-420)tCa>tGa	p.S140*	HELZ_ENST00000580168.1_Nonsense_Mutation_p.S140*|HELZ_ENST00000580662.1_5'UTR	NM_014877.3	NP_055692			helicase with zinc finger									p.S140*(1)		NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					CTCTGTTTCTGAGAGAAGTGT	0.343000											OREG0024677	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	78					0	0	1	0	0
PTPRF	5792	broad.mit.edu	37	1	44072610	44072610	+	Silent	SNP	C	C	G			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr1:44072610C>G	ENST00000359947.4	+	21	4168	c.3828C>G	c.(3826-3828)ctC>ctG	p.L1276L	PTPRF_ENST00000372413.3_Silent_p.L1267L|PTPRF_ENST00000372414.3_Silent_p.L1276L|PTPRF_ENST00000438120.1_Silent_p.L1267L|PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000422171.2_Silent_p.L624L	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	1276					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)				TCATCATCCTCATTGTCATCG	0.622000													10	128					0	0	1	0	0
MAP3K3	4215	broad.mit.edu	37	17	61768566	61768566	+	Silent	SNP	G	G	C			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr17:61768566G>C	ENST00000361357.3	+	14	1728	c.1410G>C	c.(1408-1410)ctG>ctC	p.L470L	MAP3K3_ENST00000579585.1_Silent_p.L470L|MAP3K3_ENST00000584573.1_Silent_p.L466L|MAP3K3_ENST00000361733.3_Silent_p.L439L|MAP3K3_ENST00000577395.1_Silent_p.L435L	NM_203351.1	NP_976226.1	Q99759	M3K3_HUMAN	mitogen-activated protein kinase kinase kinase 3	439	Protein kinase.				MAPKKK cascade|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autophosphorylation	cytosol	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	28						AGAAGACCCTGACCATCTTCA	0.577000													5	115					0	0	1	0	0
HECTD1	25831	broad.mit.edu	37	14	31575931	31575931	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr14:31575931C>T	ENST00000399332.1	-	38	7635	c.7147G>A	c.(7147-7149)Gag>Aag	p.E2383K	HECTD1_ENST00000553700.1_Missense_Mutation_p.E2383K	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	2383	HECT.				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)		GTGTTCTTCTCATCTTCAGAA	0.378000													8	50					0	0	1	0	0
PEG3	5178	broad.mit.edu	37	19	57328268	57328268	+	Silent	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr19:57328268G>A	ENST00000326441.9	-	10	1905	c.1542C>T	c.(1540-1542)ttC>ttT	p.F514F	ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000423103.2_Silent_p.F514F|ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000593695.1_Silent_p.F388F|PEG3_ENST00000598410.1_Silent_p.F390F|ZIM2_ENST00000391708.3_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	514					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		CACTCTTATTGAAGGTCTCTC	0.458000													25	105					0	0	1	0	0
EPPK1	83481	broad.mit.edu	37	8	144941013	144941013	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr8:144941013G>C	ENST00000525985.1	-	2	6480	c.6409C>G	c.(6409-6411)Ctc>Gtc	p.L2137V				P58107	EPIPL_HUMAN	epiplakin 1	2137						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			ACCAGCTGGAGCTTCTTCTCC	0.517000													19	136					0	0	1	0	0
DST	667	broad.mit.edu	37	6	56334713	56334713	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr6:56334713G>A	ENST00000370754.5	-	97	22425	c.22426C>T	c.(22426-22428)Caa>Taa	p.Q7476*	DST_ENST00000312431.6_3'UTR|DST_ENST00000244364.6_Nonsense_Mutation_p.Q4884*|DST_ENST00000370769.4_Nonsense_Mutation_p.Q7298*|DST_ENST00000446842.2_Nonsense_Mutation_p.Q6972*|DST_ENST00000421834.2_Nonsense_Mutation_p.Q5183*|DST_ENST00000370788.2_Nonsense_Mutation_p.Q5101*|DST_ENST00000361203.3_Nonsense_Mutation_p.Q7187*			Q03001	DYST_HUMAN	dystonin	7296					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)			TGCTCAACTTGAAATCGCTTT	0.313000													11	87					0	0	1	0	0
PAF1	54623	broad.mit.edu	37	19	39880314	39880314	+	Silent	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr19:39880314G>A	ENST00000221265.3	-	4	588	c.258C>T	c.(256-258)ctC>ctT	p.L86L	PAF1_ENST00000221266.7_Silent_p.L76L|PAF1_ENST00000595564.1_Silent_p.L76L	NM_019088.3	NP_061961.2	Q8N7H5	PAF1_HUMAN	Paf1, RNA polymerase II associated factor, homolog (S. cerevisiae)	86					histone H2B ubiquitination|histone monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|urinary_tract(2)	17	all_cancers(60;9.14e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.88e-06)|Ovarian(47;0.0512)		Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			CAGGATTGATGAGATCGATGG	0.572000													7	96					0	0	1	0	0
ADCY6	112	broad.mit.edu	37	12	49177157	49177157	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr12:49177157C>T	ENST00000307885.4	-	1	755	c.61G>A	c.(61-63)Gaa>Aaa	p.E21K	ADCY6_ENST00000550422.1_Missense_Mutation_p.E21K|ADCY6_ENST00000357869.3_Missense_Mutation_p.E21K	NM_015270.3	NP_056085.1	O43306	ADCY6_HUMAN	adenylate cyclase 6	21					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane	ATP binding|metal ion binding			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(16)|prostate(1)|skin(1)|urinary_tract(1)	29						CCATTGCGTTCACCCCAGGCT	0.582000													6	36					0	0	1	0	0
C19orf60	55049	broad.mit.edu	37	19	18700373	18700373	+	Silent	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr19:18700373C>T	ENST00000358607.6	+	3	410	c.333C>T	c.(331-333)ttC>ttT	p.F111F	C19orf60_ENST00000450195.2_Silent_p.F89F|CRLF1_ENST00000594325.1_Intron	NM_001100418.1|NM_001100419.1	NP_001093888.1|NP_001093889.1	Q96EN9	CS060_HUMAN	chromosome 19 open reading frame 60	111							protein binding										CCCAGGCCTTCGCCGCCGCCT	0.736000													3	6					0	0	1	0	0
ABCC8	6833	broad.mit.edu	37	11	17428510	17428510	+	Silent	SNP	G	G	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr11:17428510G>T	ENST00000302539.4	-	25	3215	c.3090C>A	c.(3088-3090)atC>atA	p.I1030I	ABCC8_ENST00000389817.3_Silent_p.I1029I	NM_000352.3	NP_000343.2	Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	1029	ABC transmembrane type-1 2.				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	GCCAGTAGTCGATGGCCACCA	0.647000													6	97					1.06961e-07	1.15716e-07	1	1	0
INO80	54617	broad.mit.edu	37	15	41313219	41313219	+	Silent	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr15:41313219C>T	ENST00000361937.3	-	26	3577	c.3153G>A	c.(3151-3153)ttG>ttA	p.L1051L	INO80_ENST00000401393.3_Silent_p.L1051L|RP11-540O11.4_ENST00000558967.1_RNA			Q9ULG1	INO80_HUMAN	INO80 complex subunit	1051	Assembles INO80 complex module consisting of conserved components INO80B, INO80C, ACTR5, RVBL1, RVBL2.				cell division|cellular response to ionizing radiation|cellular response to UV|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of cell growth|positive regulation of DNA replication involved in S phase|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly|UV-damage excision repair	Ino80 complex|microtubule	actin binding|alpha-tubulin binding|ATP binding|ATPase activity|DNA binding|DNA helicase activity			NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						GGGCCCCATTCAACAAACACT	0.527000													10	57					0	0	1	0	0
CCDC88A	55704	broad.mit.edu	37	2	55561583	55561583	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr2:55561583C>T	ENST00000436346.1	-	15	3215	c.2374G>A	c.(2374-2376)Gaa>Aaa	p.E792K	CCDC88A_ENST00000336838.6_Missense_Mutation_p.E792K|AC012358.8_ENST00000600219.1_RNA|AC012358.8_ENST00000599475.1_RNA|AC012358.8_ENST00000599352.1_RNA|AC012358.8_ENST00000594078.1_RNA|CCDC88A_ENST00000413716.2_Missense_Mutation_p.E792K|CCDC88A_ENST00000263630.8_Missense_Mutation_p.E792K|AC012358.8_ENST00000608103.1_RNA	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A	792					activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade	cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						GTTTGATTTTCCATCTCTAAG	0.318000													3	40					0	0	1	0	0
TMCO3	55002	broad.mit.edu	37	13	114154315	114154315	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr13:114154315G>A	ENST00000434316.2	+	4	1026	c.667G>A	c.(667-669)Gaa>Aaa	p.E223K	TMCO3_ENST00000474393.1_3'UTR|TMCO3_ENST00000375391.1_Missense_Mutation_p.E223K	NM_017905.4	NP_060375.4	Q6UWJ1	TMCO3_HUMAN	transmembrane and coiled-coil domains 3	223	Poly-Glu.			E -> G (in Ref. 2; BAA91295).		integral to membrane	solute:hydrogen antiporter activity			NS(1)|endometrium(4)|large_intestine(9)|liver(1)|lung(8)|prostate(1)|stomach(1)	25	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0145)|all_epithelial(44;0.00286)|all_lung(25;0.0273)|Breast(118;0.0411)|Lung NSC(25;0.0983)	all cancers(43;0.0317)			GGTGGAGGAAGAAGAGGCCAA	0.383000													4	68					0	0	1	0	0
MFSD5	84975	broad.mit.edu	37	12	53647579	53647579	+	Silent	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr12:53647579C>T	ENST00000534842.1	+	2	1428	c.1281C>T	c.(1279-1281)ctC>ctT	p.L427L	MFSD5_ENST00000329548.4_Silent_p.L320L	NM_001170790.1	NP_001164261.1	Q6N075	MFSD5_HUMAN	major facilitator superfamily domain containing 5	320					transport	integral to membrane				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|skin(3)|urinary_tract(1)	16						TTGCTGTGCTCATCGTCGTCT	0.547000													6	75					0	0	1	0	0
NPR3	4883	broad.mit.edu	37	5	32712174	32712174	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr5:32712174C>T	ENST00000265074.8	+	1	635	c.292C>T	c.(292-294)Cgc>Tgc	p.R98C	NPR3_ENST00000415685.2_Intron|NPR3_ENST00000415167.2_Missense_Mutation_p.R98C|NPR3_ENST00000434067.2_Intron	NM_000908.3|NM_001204375.1	NP_000899.1|NP_001191304.1	P17342	ANPRC_HUMAN	natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C)	98					osteoclast proliferation|positive regulation of urine volume|regulation of blood pressure|regulation of osteoblast proliferation|skeletal system development	integral to membrane	hormone binding|natriuretic peptide receptor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24					Nesiritide(DB04899)	GCCGGGCACTCGCTTCCAGGT	0.662000													3	46					0	0	1	0	0
FBN3	84467	broad.mit.edu	37	19	8171100	8171100	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr19:8171100C>G	ENST00000600128.1	-	38	5119	c.4705G>C	c.(4705-4707)Gag>Cag	p.E1569Q	FBN3_ENST00000601739.1_Missense_Mutation_p.E1569Q|FBN3_ENST00000270509.2_Missense_Mutation_p.E1569Q			Q75N90	FBN3_HUMAN	fibrillin 3	1569	EGF-like 24; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						CCTGGCAGCTCTTGGCACTCG	0.577000													7	56					0	0	1	0	0
TSHZ1	10194	broad.mit.edu	37	18	72999153	72999153	+	Silent	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr18:72999153G>A	ENST00000322038.5	+	2	2240	c.1656G>A	c.(1654-1656)caG>caA	p.Q552Q	TSHZ1_ENST00000580243.1_Silent_p.Q597Q	NM_005786.5	NP_005777.3	Q6ZSZ6	TSH1_HUMAN	teashirt zinc finger homeobox 1	597						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)		CGGCCGTGCAGAGCGTGCAGG	0.682000													3	26					0	0	1	0	0
TAB3	257397	broad.mit.edu	37	X	30872614	30872614	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chrX:30872614G>A	ENST00000378933.1	-	3	1345	c.1168C>T	c.(1168-1170)Caa>Taa	p.Q390*	TAB3_ENST00000378930.3_Nonsense_Mutation_p.Q390*|TAB3-AS2_ENST00000445240.1_RNA|TAB3_ENST00000288422.2_Nonsense_Mutation_p.Q390*|TAB3_ENST00000378932.2_Nonsense_Mutation_p.Q390*	NM_152787.3	NP_690000.2	Q8N5C8	TAB3_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 3	390	Pro-rich.				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						GGAGATGGTTGATTACTGATG	0.423000													4	73					0	0	1	0	0
ESX1	80712	broad.mit.edu	37	X	103499470	103499470	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chrX:103499470C>T	ENST00000372588.4	-	1	144	c.61G>A	c.(61-63)Gag>Aag	p.E21K		NM_153448.3	NP_703149.1	Q8N693	ESX1_HUMAN	ESX homeobox 1	21					negative regulation of transcription, DNA-dependent|regulation of cell cycle	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(10)|lung(12)|ovary(1)|skin(2)	27						TCGATGTCCTCGCCGACTGCC	0.552000													7	157					0	0	1	0	0
CHFR	55743	broad.mit.edu	37	12	133433091	133433091	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr12:133433091C>A	ENST00000266880.7	-	11	1291	c.1228G>T	c.(1228-1230)Gag>Tag	p.E410*	CHFR_ENST00000541837.2_5'UTR|CHFR_ENST00000432561.2_Nonsense_Mutation_p.E410*|CHFR_ENST00000450056.2_Nonsense_Mutation_p.E398*|CHFR_ENST00000537522.1_Nonsense_Mutation_p.E32*|CHFR_ENST00000443047.2_Nonsense_Mutation_p.E318*|CHFR_ENST00000315585.7_Nonsense_Mutation_p.E369*			Q96EP1	CHFR_HUMAN	checkpoint with forkhead and ring finger domains, E3 ubiquitin protein ligase	410					cell division|mitosis|mitotic cell cycle checkpoint|modification-dependent protein catabolic process|protein polyubiquitination	PML body	nucleotide binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.00552)|all_epithelial(31;0.226)		OV - Ovarian serous cystadenocarcinoma(86;2.59e-08)|Epithelial(86;6.38e-07)|all cancers(50;1.56e-05)		TCTGACAGCTCCAGCAGGTCC	0.507000													29	99					1.2476e-16	1.3842e-16	1	1	0
YIPF3	25844	broad.mit.edu	37	6	43481144	43481144	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr6:43481144G>C	ENST00000372422.2	-	5	669	c.487C>G	c.(487-489)Ctg>Gtg	p.L163V	YIPF3_ENST00000506469.1_Missense_Mutation_p.L169V	NM_015388.3	NP_056203.2	Q9GZM5	YIPF3_HUMAN	Yip1 domain family, member 3	163					cell differentiation	integral to membrane|plasma membrane|transport vesicle				large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|skin(1)	9	all_cancers(18;3.79e-05)|Lung NSC(15;0.00217)|all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00736)|OV - Ovarian serous cystadenocarcinoma(102;0.0711)			ATAGCAACCAGAGTGAAGACC	0.473000													7	43					0	0	1	0	0
BDNF	627	broad.mit.edu	37	11	27679688	27679688	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr11:27679688C>G	ENST00000525528.1	-	1	1517	c.424G>C	c.(424-426)Gac>Cac	p.D142H	BDNF_ENST00000532997.1_Missense_Mutation_p.D142H|BDNF-AS_ENST00000530313.1_RNA|BDNF-AS_ENST00000499008.3_RNA|BDNF-AS_ENST00000500662.2_RNA|BDNF_ENST00000533246.1_Missense_Mutation_p.D142H|BDNF_ENST00000525950.1_Missense_Mutation_p.D142H|BDNF_ENST00000395978.3_Missense_Mutation_p.D142H|BDNF-AS_ENST00000530686.1_RNA|BDNF-AS_ENST00000501176.2_RNA|BDNF_ENST00000356660.4_Missense_Mutation_p.D142H|BDNF_ENST00000439476.2_Missense_Mutation_p.D142H|BDNF_ENST00000395981.3_Missense_Mutation_p.D142H|BDNF_ENST00000395986.2_Missense_Mutation_p.D157H|BDNF_ENST00000584049.1_5'UTR|BDNF_ENST00000418212.1_Missense_Mutation_p.D142H|BDNF-AS_ENST00000499568.2_RNA|BDNF_ENST00000314915.6_Missense_Mutation_p.D150H|BDNF_ENST00000530861.1_Missense_Mutation_p.D142H|BDNF_ENST00000533131.1_Missense_Mutation_p.D142H|BDNF_ENST00000395980.2_Missense_Mutation_p.D142H|BDNF_ENST00000438929.1_Missense_Mutation_p.D224H|BDNF-AS_ENST00000532965.1_RNA|BDNF-AS_ENST00000502161.2_RNA|BDNF_ENST00000395983.3_Missense_Mutation_p.D142H|BDNF_ENST00000420794.1_Missense_Mutation_p.D142H	NM_170735.5	NP_733931.1	P23560	BDNF_HUMAN	brain-derived neurotrophic factor	142						extracellular region	growth factor activity			breast(1)|large_intestine(3)|lung(2)	6						CTAATACTGTCACACACGCTC	0.542000													16	112					0	0	1	0	0
DYNC1H1	1778	broad.mit.edu	37	14	102516520	102516520	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr14:102516520G>C	ENST00000360184.4	+	77	13961	c.13797G>C	c.(13795-13797)gaG>gaC	p.E4599D	RP11-1017G21.4_ENST00000557242.1_RNA|RP11-1017G21.4_ENST00000553701.1_RNA	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	4599					cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						CAAACACCGAGAAGAAGGCCA	0.592000													5	62					0	0	1	0	0
GTPBP4	23560	broad.mit.edu	37	10	1041898	1041898	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr10:1041898G>T	ENST00000360803.4	+	3	331	c.249G>T	c.(247-249)atG>atT	p.M83I	GTPBP4_ENST00000545048.1_Missense_Mutation_p.M36I|GTPBP4_ENST00000491635.1_Intron|GTPBP4_ENST00000538293.1_Intron	NM_012341.2	NP_036473.2	Q9BZE4	NOG1_HUMAN	GTP binding protein 4	83					negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of collagen binding|negative regulation of DNA replication|negative regulation of protein ubiquitination|protein stabilization|regulation of cyclin-dependent protein kinase activity|ribosome biogenesis	nucleolus|perinuclear region of cytoplasm	GTP binding|GTPase activity|protein binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(1)	21		all_epithelial(10;0.107)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.0814)	Epithelial(11;0.0513)|all cancers(11;0.135)|OV - Ovarian serous cystadenocarcinoma(14;0.173)		CTGATTTGATGAATATTCTCT	0.393000													3	42					0.00909568	0.00929441	1	1	0
SIGMAR1	10280	broad.mit.edu	37	9	34635839	34635839	+	Silent	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr9:34635839G>A	ENST00000378892.1	-	3	622	c.195C>T	c.(193-195)caC>caT	p.H65H	SIGMAR1_ENST00000277010.4_Silent_p.H154H|SIGMAR1_ENST00000477726.1_Silent_p.H123H|SIGMAR1_ENST00000461426.1_5'UTR			Q99720	SGMR1_HUMAN	sigma non-opioid intracellular receptor 1	154					ergosterol biosynthetic process|lipid transport	cell junction|endoplasmic reticulum membrane|growth cone|integral to plasma membrane|lipid particle|nuclear inner membrane|nuclear outer membrane	C-8 sterol isomerase activity|drug binding			large_intestine(1)|lung(1)	2					Dextromethorphan(DB00514)	CACCAGGCCCGTGTACTACCG	0.647000													11	47					0	0	1	0	0
HMGCLL1	54511	broad.mit.edu	37	6	55360227	55360227	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr6:55360227G>A	ENST00000398661.2	-	8	1006	c.875C>T	c.(874-876)aCg>aTg	p.T292M	HMGCLL1_ENST00000508459.1_Intron|HMGCLL1_ENST00000370850.2_Missense_Mutation_p.T159M|HMGCLL1_ENST00000308161.4_Missense_Mutation_p.T230M|HMGCLL1_ENST00000274901.4_Missense_Mutation_p.T262M	NM_019036.2	NP_061909.2	Q8TB92	HMGC2_HUMAN	3-hydroxymethyl-3-methylglutaryl-CoA lyase-like 1	292							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)			CTGAAGGGCCGTAAGGATATT	0.383000													8	67					0	0	1	0	0
AHSG	197	broad.mit.edu	37	3	186331033	186331033	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr3:186331033C>T	ENST00000411641.2	+	1	322	c.103C>T	c.(103-105)Cca>Tca	p.P35S	AHSG_ENST00000273784.5_Missense_Mutation_p.P35S			P02765	FETUA_HUMAN	alpha-2-HS-glycoprotein	35	Cystatin fetuin-A-type 1.				acute-phase response|negative regulation of bone mineralization|negative regulation of insulin receptor signaling pathway|pinocytosis|positive regulation of phagocytosis|regulation of inflammatory response|skeletal system development	extracellular space	cysteine-type endopeptidase inhibitor activity|protein binding			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(2)|stomach(1)	22	all_cancers(143;3.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.27e-20)	GBM - Glioblastoma multiforme(93;0.0463)		CTGCGATGATCCAGAAACTGA	0.502000													7	53					0	0	1	0	0
ATP10B	23120	broad.mit.edu	37	5	160047939	160047939	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr5:160047939T>C	ENST00000327245.5	-	15	2677	c.1831A>G	c.(1831-1833)Agc>Ggc	p.S611G	CTC-348L5.1_ENST00000523598.1_RNA	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	611					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AGAGCCTTGCTTGAGGGTTTG	0.463000													21	218					0	0	1	0	0
NWD1	284434	broad.mit.edu	37	19	16908608	16908608	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr19:16908608G>A	ENST00000524140.2	+	16	3788	c.3370G>A	c.(3370-3372)Gat>Aat	p.D1124N	NWD1_ENST00000549814.1_Missense_Mutation_p.D1124N|NWD1_ENST00000379808.3_Missense_Mutation_p.D1124N|NWD1_ENST00000523826.1_Missense_Mutation_p.D918N|NWD1_ENST00000339803.6_Missense_Mutation_p.D989N|NWD1_ENST00000552788.1_Missense_Mutation_p.D1124N	NM_001007525.3	NP_001007526.3	Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	1124							ATP binding			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CATGGCCATGGATCTGGAACA	0.537000													23	221					0	0	1	0	0
ABCC9	10060	broad.mit.edu	37	12	21995253	21995253	+	Silent	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr12:21995253G>A	ENST00000261200.4	-	27	3467	c.3468C>T	c.(3466-3468)gcC>gcT	p.A1156A	ABCC9_ENST00000345162.2_Silent_p.A1120A|ABCC9_ENST00000261201.4_Silent_p.A1156A|RP11-729I10.2_ENST00000539874.1_RNA	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	1156	ABC transmembrane type-1 2.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	CTTACTTAGAGGCAACCCGAA	0.418000													10	25					0	0	1	0	0
PCF11	51585	broad.mit.edu	37	11	82877138	82877138	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr11:82877138G>C	ENST00000298281.4	+	5	1651	c.1199G>C	c.(1198-1200)aGa>aCa	p.R400T		NM_015885.3	NP_056969.2	O94913	PCF11_HUMAN	PCF11 cleavage and polyadenylation factor subunit	400	Lys-rich.				mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage factor complex				cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1)	33						ATGAACAAGAGAGATCCAAGA	0.338000													3	16					0	0	1	0	0
HOXC4	3221	broad.mit.edu	37	12	54447857	54447857	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr12:54447857G>A	ENST00000430889.2	+	1	197	c.151G>A	c.(151-153)Gag>Aag	p.E51K	HOXC4_ENST00000609810.1_Missense_Mutation_p.E51K|HOXC4_ENST00000303406.4_Missense_Mutation_p.E51K	NM_153633.2	NP_705897.1	P09017	HXC4_HUMAN	homeobox C4	51						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	13						TCACCACCAGGAGCTGTACCC	0.607000													16	213					0	0	1	0	0
MMS22L	253714	broad.mit.edu	37	6	97613184	97613184	+	Silent	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr6:97613184C>T	ENST00000275053.4	-	21	3424	c.3159G>A	c.(3157-3159)ttG>ttA	p.L1053L	MMS22L_ENST00000369251.2_Silent_p.L1013L	NM_198468.2	NP_940870.2	Q6ZRQ5	MMS22_HUMAN	MMS22-like, DNA repair protein	1053					double-strand break repair via homologous recombination|replication fork processing	nuclear replication fork	protein binding			breast(1)|endometrium(9)|kidney(2)|large_intestine(12)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	50						CTGTGTTTCTCAATGCCAGCA	0.363000													18	97					0	0	1	0	0
C5orf42	65250	broad.mit.edu	37	5	37180226	37180226	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr5:37180226G>A	ENST00000274258.7	-	28	5857	c.2270C>T	c.(2269-2271)tCc>tTc	p.S757F	C5orf42_ENST00000425232.2_Missense_Mutation_p.S1877F|C5orf42_ENST00000508244.1_Missense_Mutation_p.S1877F			E9PH94	E9PH94_HUMAN	chromosome 5 open reading frame 42	1877										breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			ATGAGTGATGGAAATAATATC	0.284000													3	55					0	0	1	0	0
COL27A1	85301	broad.mit.edu	37	9	116973287	116973287	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr9:116973287G>T	ENST00000356083.3	+	12	2739	c.2348G>T	c.(2347-2349)aGg>aTg	p.R783M		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	783	Collagen-like 3.|Pro-rich.|Triple-helical region.				cell adhesion		extracellular matrix structural constituent			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						CCTGGCAAGAGGGGCAAGATG	0.642000													6	94					2.52707e-12	2.7784e-12	1	1	0
DLC1	10395	broad.mit.edu	37	8	13357443	13357443	+	Silent	SNP	T	T	C			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr8:13357443T>C	ENST00000276297.4	-	2	547	c.138A>G	c.(136-138)aaA>aaG	p.K46K	DLC1_ENST00000316609.5_Silent_p.K46K|DLC1_ENST00000511869.1_Silent_p.K46K	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1	46					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						GAGTTGCATCTTTTTCCATAC	0.468000													3	190					0	0	1	0	0
CNNM2	54805	broad.mit.edu	37	10	104678597	104678597	+	Silent	SNP	C	C	T	rs142276906	byFrequency	TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr10:104678597C>T	ENST00000369878.4	+	1	548	c.360C>T	c.(358-360)ttC>ttT	p.F120F	CNNM2_ENST00000369875.3_Silent_p.F120F|CNNM2_ENST00000433628.2_Silent_p.F120F	NM_017649.4	NP_060119.3	Q9H8M5	CNNM2_HUMAN	cyclin M2						ion transport	integral to membrane				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1)	19		Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198)		Epithelial(162;7.89e-09)|all cancers(201;1.82e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		GCATCGCCTTCACCGAGCACG	0.731000													4	25					0	0	1	0	0
TBC1D2	55357	broad.mit.edu	37	9	100971023	100971023	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr9:100971023C>T	ENST00000375066.5	-	9	2168	c.2077G>A	c.(2077-2079)Gac>Aac	p.D693N	TBC1D2_ENST00000375063.1_Missense_Mutation_p.D233N|TBC1D2_ENST00000342112.5_Missense_Mutation_p.D475N|TBC1D2_ENST00000375064.1_Missense_Mutation_p.D693N|TBC1D2_ENST00000493589.2_5'UTR	NM_018421.3	NP_060891.3	Q9BYX2	TBD2A_HUMAN	TBC1 domain family, member 2	693	Rab-GAP TBC.					cell junction|cytoplasmic membrane-bounded vesicle|nucleus	Rab GTPase activator activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)		CGGAGCTTGTCGGGGAAGCTG	0.642000													4	55					0	0	1	0	0
OR6C76	390326	broad.mit.edu	37	12	55820661	55820661	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr12:55820661G>C	ENST00000328314.3	+	1	624	c.624G>C	c.(622-624)ttG>ttC	p.L208F		NM_001005183.1	NP_001005183.1	A6NM76	O6C76_HUMAN	olfactory receptor, family 6, subfamily C, member 76	208					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						TATCCACTTTGATATTAGTAA	0.398000													5	25					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577085	7577085	+	Missense_Mutation	SNP	C	C	T	rs112431538		TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr17:7577085C>T	ENST00000420246.2	-	8	985	c.853G>A	c.(853-855)Gag>Aag	p.E285K	TP53_ENST00000269305.4_Missense_Mutation_p.E285K|TP53_ENST00000445888.2_Missense_Mutation_p.E285K|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.E285K|TP53_ENST00000359597.4_Missense_Mutation_p.E285K	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	285	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		E -> A (in a sporadic cancer; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|E -> V (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.E285K(111)|p.E285*(24)|p.0?(8)|p.E285Q(4)|p.?(2)|p.R283fs*16(2)|p.C275fs*20(1)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.T284fs*57(1)|p.T284_G293del10(1)|p.E285_L289delEEENL(1)|p.E285fs*60(1)|p.G279fs*59(1)|p.R283fs*56(1)|p.E285fs*20(1)|p.E285fs*13(1)|p.R283fs*59(1)|p.V272_K292del21(1)|p.E285_N288delEEEN(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)		TTCTCTTCCTCTGTGCGCCGG	0.562000		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)			18	32					0	0	1	0	0
TMEM132E	124842	broad.mit.edu	37	17	32964905	32964905	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr17:32964905C>T	ENST00000321639.5	+	10	2937	c.2609C>T	c.(2608-2610)aCc>aTc	p.T870I		NM_207313.1	NP_997196.1	Q6IEE7	T132E_HUMAN	transmembrane protein 132E	870						integral to membrane				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57				BRCA - Breast invasive adenocarcinoma(366;0.231)		CCGCTGGAAACCGTGCCCGCC	0.706000													6	22					0	0	1	0	0
RLIM	51132	broad.mit.edu	37	X	73814150	73814150	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chrX:73814150C>T	ENST00000332687.6	-	3	462	c.244G>A	c.(244-246)Gaa>Aaa	p.E82K	RLIM_ENST00000349225.2_Missense_Mutation_p.E82K	NM_016120.3	NP_057204.2	Q9NVW2	RNF12_HUMAN	ring finger protein, LIM domain interacting	82					random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|transcriptional repressor complex	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CCTCTATTTTCATCTGAGTTT	0.418000													5	29					0	0	1	0	0
AK7	122481	broad.mit.edu	37	14	96912869	96912869	+	Silent	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr14:96912869C>T	ENST00000267584.4	+	8	839	c.795C>T	c.(793-795)gtC>gtT	p.V265V		NM_152327.3	NP_689540.2	Q96M32	KAD7_HUMAN	adenylate kinase 7	265					cell projection organization	cytosol	adenylate kinase activity|ATP binding|cytidylate kinase activity			breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)		TACAAAACGTCATAGATCACG	0.443000													5	70					0	0	1	0	0
DNER	92737	broad.mit.edu	37	2	230450662	230450662	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr2:230450662T>C	ENST00000341772.4	-	4	893	c.759A>G	c.(757-759)atA>atG	p.I253M	DNER_ENST00000482831.1_5'UTR	NM_139072.3	NP_620711.3	Q8NFT8	DNER_HUMAN	delta/notch-like EGF repeat containing	253					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)		TTCGTCCATCTATGAGGGAGC	0.517000													8	58					0	0	1	0	0
CTNND2	1501	broad.mit.edu	37	5	11098861	11098861	+	Splice_Site	SNP	C	C	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr5:11098861C>A	ENST00000304623.8	-	15	2653		c.e15-1		CTNND2_ENST00000495388.2_Splice_Site|CTNND2_ENST00000503622.1_Splice_Site|CTNND2_ENST00000458100.2_Splice_Site|CTNND2_ENST00000511377.1_Splice_Site|CTNND2_ENST00000359640.2_Intron	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2						multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						CTCCATCCCACTGGCGGAAGA	0.463000													7	60					0.0293803	0.0297721	1	1	0
CDK5R2	8941	broad.mit.edu	37	2	219825385	219825385	+	Silent	SNP	C	C	G			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr2:219825385C>G	ENST00000302625.4	+	1	1009	c.843C>G	c.(841-843)ctC>ctG	p.L281L	AC097468.7_ENST00000429343.1_RNA	NM_003936.4	NP_003927.1	Q13319	CD5R2_HUMAN	cyclin-dependent kinase 5, regulatory subunit 2 (p39)	281					regulation of cyclin-dependent protein kinase activity	cyclin-dependent protein kinase 5 holoenzyme complex	cyclin-dependent protein kinase 5 activator activity			central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(1)|ovary(1)	8		Renal(207;0.0474)		Epithelial(149;9.77e-07)|all cancers(144;0.000167)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCTACCCACTCAAGCCCTTCC	0.677000													6	120					0	0	1	0	0
THBS2	7058	broad.mit.edu	37	6	169623568	169623568	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr6:169623568C>A	ENST00000366787.3	-	19	3025	c.2776G>T	c.(2776-2778)Gat>Tat	p.D926Y	XXyac-YX65C7_A.2_ENST00000444188.1_RNA	NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	926					cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity			NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		CCCCGTCCATCACCTATGCAC	0.398000													6	85					3.59834e-05	3.7851e-05	1	1	0
KIAA1462	57608	broad.mit.edu	37	10	30336610	30336610	+	Silent	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr10:30336610C>T	ENST00000375377.1	-	2	233	c.132G>A	c.(130-132)caG>caA	p.Q44Q		NM_020848.2	NP_065899.1	Q9P266	K1462_HUMAN	KIAA1462	44										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						CATGCCCGTTCTGCAGGCCCT	0.642000													6	41					0	0	1	0	0
ITGA2	3673	broad.mit.edu	37	5	52355784	52355784	+	Silent	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr5:52355784C>T	ENST00000296585.5	+	11	1397	c.1254C>T	c.(1252-1254)atC>atT	p.I418I		NM_002203.3	NP_002194.2	P17301	ITA2_HUMAN	integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	418					axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis	integrin complex	collagen binding|identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)				GCCATTTGATCTTTCCTAAAC	0.408000													4	41					0	0	1	0	0
ADAMTS16	170690	broad.mit.edu	37	5	5239993	5239993	+	Silent	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr5:5239993G>A	ENST00000274181.7	+	16	2616	c.2478G>A	c.(2476-2478)gaG>gaA	p.E826E		NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	826	Spacer.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						ATGAGCCCGAGAACTTAATCG	0.517000													7	138					0	0	1	0	0
OR8H2	390151	broad.mit.edu	37	11	55872685	55872685	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr11:55872685T>G	ENST00000313503.1	+	1	167	c.167T>G	c.(166-168)cTt>cGt	p.L56R		NM_001005200.1	NP_001005200.1	Q8N162	OR8H2_HUMAN	olfactory receptor, family 8, subfamily H, member 2	56					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					GACCTCCAGCTTCACACTCCC	0.428000										HNSCC(53;0.14)			24	264					0	0	1	0	0
BCAN	63827	broad.mit.edu	37	1	156618580	156618580	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr1:156618580G>C	ENST00000329117.5	+	6	1326	c.990G>C	c.(988-990)aaG>aaC	p.K330N	RP11-284F21.7_ENST00000448869.1_RNA|BCAN_ENST00000361588.5_Missense_Mutation_p.K330N	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN	brevican		Link 2.				cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding			cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CTGGTGTCAAGACTCTCTTCC	0.617000													21	209					0	0	1	0	0
WDR36	134430	broad.mit.edu	37	5	110440423	110440423	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr5:110440423G>A	ENST00000506538.2	+	9	1675	c.1102G>A	c.(1102-1104)Gaa>Aaa	p.E368K	WDR36_ENST00000505303.1_Missense_Mutation_p.E312K|WDR36_ENST00000513710.2_Missense_Mutation_p.E368K	NM_139281.2	NP_644810.1	Q8NI36	WDR36_HUMAN	WD repeat domain 36	368					response to stimulus|rRNA processing|visual perception	small-subunit processome				cervix(1)|endometrium(9)|kidney(4)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.72e-05)|all_epithelial(76;4.4e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0418)|Ovarian(225;0.0443)|Colorectal(57;0.0465)|all_lung(232;0.0508)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;1.39e-08)|Epithelial(69;1.82e-07)|all cancers(49;2.04e-05)|COAD - Colon adenocarcinoma(37;0.111)		TCCTACAGGTGAAGGCCGACT	0.418000													9	113					0	0	1	0	0
CRNKL1	51340	broad.mit.edu	37	20	20022983	20022983	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr20:20022983C>T	ENST00000377340.2	-	9	1664	c.1633G>A	c.(1633-1635)Gaa>Aaa	p.E545K	CRNKL1_ENST00000536226.1_Missense_Mutation_p.E384K|CRNKL1_ENST00000377327.4_Missense_Mutation_p.E533K	NM_001278628.1|NM_016652.4	NP_001265557.1|NP_057736.4	Q9BZJ0	CRNL1_HUMAN	crooked neck pre-mRNA splicing factor 1	545					spliceosome assembly	catalytic step 2 spliceosome|cytoplasm|nuclear speck	RNA binding			breast(2)|cervix(2)|endometrium(7)|large_intestine(11)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(6)	45						GCCTCCAATTCTTCATAGAGT	0.413000													9	92					0	0	1	0	0
PFN4	375189	broad.mit.edu	37	2	24345319	24345319	+	Silent	SNP	C	C	G			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr2:24345319C>G	ENST00000313213.4	-	2	458	c.87G>C	c.(85-87)cgG>cgC	p.R29R	PFN4_ENST00000465360.1_Intron	NM_199346.1	NP_955378.1	Q8NHR9	PROF4_HUMAN	profilin family, member 4	29					actin cytoskeleton organization	actin cytoskeleton|cytoplasm	actin binding			breast(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	6	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CACACAAGCTCCGCTCCTGGA	0.413000													8	103					0	0	1	0	0
SNORD113-4	767564	broad.mit.edu	37	14	101402840	101402840	+	RNA	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr14:101402840G>A	ENST00000364802.1	+	0	13					NR_003232.1																						GACCAATGATGAGTACCATGG	0.323000													6	63					0	0	1	0	0
RHBDF2	79651	broad.mit.edu	37	17	74477496	74477496	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr17:74477496C>G	ENST00000591885.1	-	3	661	c.111G>C	c.(109-111)gaG>gaC	p.E37D	RHBDF2_ENST00000389760.4_Missense_Mutation_p.E37D|RHBDF2_ENST00000313080.4_Missense_Mutation_p.E37D|RHBDF2_ENST00000592378.1_5'UTR			Q6PJF5	RHDF2_HUMAN	rhomboid 5 homolog 2 (Drosophila)	37					negative regulation of protein secretion|protein transport|proteolysis	endoplasmic reticulum membrane|integral to membrane	growth factor binding|serine-type endopeptidase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(4)|skin(1)	27						GGGCCTGGGTCTCTTTCTCGG	0.637000													3	43					0	0	1	0	0
GPRC6A	222545	broad.mit.edu	37	6	117128367	117128367	+	Silent	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr6:117128367C>T	ENST00000310357.3	-	3	522	c.501G>A	c.(499-501)gtG>gtA	p.V167V	GPRC6A_ENST00000368549.3_Silent_p.V167V|GPRC6A_ENST00000530250.1_Silent_p.V167V	NM_148963.2	NP_683766.2	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, family C, group 6, member A	167					response to amino acid stimulus		G-protein coupled receptor activity			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		ATTCATAACCCACCTGGAAAT	0.383000													5	80					0	0	1	0	0
ORC5	5001	broad.mit.edu	37	7	103848302	103848302	+	Silent	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr7:103848302G>A	ENST00000297431.4	-	1	193	c.51C>T	c.(49-51)atC>atT	p.I17I	ORC5_ENST00000485726.1_5'UTR|ORC5_ENST00000545943.1_5'UTR|ORC5_ENST00000447452.2_Silent_p.I17I	NM_002553.3	NP_002544.1	O43913	ORC5_HUMAN	origin recognition complex, subunit 5	17					cell cycle checkpoint|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	cytoplasm|nuclear origin of replication recognition complex|nucleoplasm	ATP binding|DNA replication origin binding|identical protein binding			kidney(1)|large_intestine(2)|lung(9)|pancreas(1)|upper_aerodigestive_tract(1)	14						AGGACTGCAAGATGGACACTT	0.517000													11	100					0	0	1	0	0
DHRS13	147015	broad.mit.edu	37	17	27228598	27228598	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr17:27228598C>T	ENST00000394901.3	-	2	525	c.133G>A	c.(133-135)Gac>Aac	p.D45N	DHRS13_ENST00000378895.4_Missense_Mutation_p.D95N|DHRS13_ENST00000426464.2_Intron			Q6UX07	DHR13_HUMAN	dehydrogenase/reductase (SDR family) member 13	95						extracellular region	binding|oxidoreductase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	9	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		Epithelial(11;1.59e-06)|all cancers(11;9.27e-06)|BRCA - Breast invasive adenocarcinoma(11;5.78e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.0602)			CTGGCCAAGTCCAAGGCCATG	0.602000													3	81					0	0	1	0	0
FLT4	2324	broad.mit.edu	37	5	180048704	180048704	+	Silent	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr5:180048704G>A	ENST00000261937.6	-	13	1936	c.1858C>T	c.(1858-1860)Ctg>Ttg	p.L620L	FLT4_ENST00000424276.2_5'UTR|FLT4_ENST00000502649.1_Silent_p.L620L|FLT4_ENST00000393347.3_Silent_p.L620L	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	620	Ig-like C2-type 6.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	CTGGCGGCCAGAGGGGTGGCG	0.682000													4	23					0	0	1	0	0
GALR2	8811	broad.mit.edu	37	17	74073116	74073116	+	Silent	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr17:74073116C>T	ENST00000329003.3	+	2	858	c.768C>T	c.(766-768)atC>atT	p.I256I		NM_003857.2	NP_003848.1	O43603	GALR2_HUMAN	galanin receptor 2	256					digestion|elevation of cytosolic calcium ion concentration|feeding behavior|learning or memory|muscle contraction	integral to membrane|plasma membrane	galanin receptor activity			cervix(1)|lung(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						ACGCGCTCATCCTCTGCGTGT	0.667000													4	43					0	0	1	0	0
CEP89	84902	broad.mit.edu	37	19	33444672	33444672	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr19:33444672G>A	ENST00000305768.5	-	4	429	c.341C>T	c.(340-342)tCt>tTt	p.S114F	CEP89_ENST00000590597.2_Missense_Mutation_p.S114F	NM_032816.3	NP_116205.3	Q96ST8	CEP89_HUMAN	centrosomal protein 89kDa							centrosome|spindle pole				breast(2)|cervix(1)|endometrium(4)|large_intestine(4)|lung(15)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	35						GGATGGCAAAGAAGATCTTCT	0.443000													9	91					0	0	1	0	0
EEF1A2	1917	broad.mit.edu	37	20	62120317	62120317	+	Silent	SNP	C	C	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr20:62120317C>A	ENST00000217182.3	-	7	1383	c.1218G>T	c.(1216-1218)ccG>ccT	p.P406P	EEF1A2_ENST00000298049.7_Silent_p.P406P	NM_001958.3	NP_001949.1	Q05639	EF1A2_HUMAN	eukaryotic translation elongation factor 1 alpha 2	406						nucleus	GTP binding|GTPase activity|protein binding|translation elongation factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(14)|stomach(1)	20	all_cancers(38;9.45e-12)		BRCA - Breast invasive adenocarcinoma(10;1.22e-05)			TGGGCTTTCCCGGCACCATCT	0.647000													10	72					6.40141e-05	6.72203e-05	1	1	0
MAST1	22983	broad.mit.edu	37	19	12985238	12985238	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr19:12985238C>T	ENST00000251472.4	+	26	4306	c.4267C>T	c.(4267-4269)Cgc>Tgc	p.R1423C		NM_014975.2	NP_055790.1	Q9Y2H9	MAST1_HUMAN	microtubule associated serine/threonine kinase 1	1423					cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						GACAGGCCGGCGCAGCAGCTC	0.711000													7	30					0	0	1	0	0
TXNDC5	81567	broad.mit.edu	37	6	7899902	7899902	+	Silent	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr6:7899902G>A	ENST00000539054.1	-	3	209	c.210C>T	c.(208-210)ttC>ttT	p.F70F	TXNDC5_ENST00000379757.4_Silent_p.F142F|TXNDC5_ENST00000473453.1_Silent_p.F34F|BLOC1S5-TXNDC5_ENST00000439343.2_3'UTR			Q8NBS9	TXND5_HUMAN	thioredoxin domain containing 5 (endoplasmic reticulum)		Thioredoxin 1.				anti-apoptosis|cell redox homeostasis|cellular membrane organization|glycerol ether metabolic process|post-Golgi vesicle-mediated transport	endoplasmic reticulum lumen|lysosomal lumen	electron carrier activity|isomerase activity|protein disulfide oxidoreductase activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|skin(2)	22	Ovarian(93;0.0398)					GGCCTGGCTTGAAAAGCTTTA	0.438000													9	59					0	0	1	0	0
RAPGEF6	51735	broad.mit.edu	37	5	130825320	130825320	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr5:130825320C>A	ENST00000509018.1	-	15	1964	c.1759G>T	c.(1759-1761)Gag>Tag	p.E587*	RAPGEF6_ENST00000512052.1_Nonsense_Mutation_p.E302*|CTC-432M15.3_ENST00000514667.1_Nonsense_Mutation_p.E637*|RAPGEF6_ENST00000510071.1_Nonsense_Mutation_p.E587*|RAPGEF6_ENST00000507093.1_Nonsense_Mutation_p.E587*|RAPGEF6_ENST00000307984.5_Nonsense_Mutation_p.E587*|RAPGEF6_ENST00000308008.6_Nonsense_Mutation_p.E587*|RAPGEF6_ENST00000296859.6_Nonsense_Mutation_p.E587*	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	Rap guanine nucleotide exchange factor (GEF) 6	587	PDZ.				Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		GTAATATTCTCAAAGTTTTGT	0.264000													4	14					0.014758	0.0150299	1	1	0
SMARCC1	6599	broad.mit.edu	37	3	47777526	47777526	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr3:47777526G>C	ENST00000254480.5	-	5	693	c.574C>G	c.(574-576)Cag>Gag	p.Q192E	SMARCC1_ENST00000425518.1_5'UTR	NM_003074.3	NP_003065.3	Q92922	SMRC1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1	192					chromatin remodeling|nervous system development|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex|WINAC complex	DNA binding|protein N-terminus binding|transcription coactivator activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33				BRCA - Breast invasive adenocarcinoma(193;7.47e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)		TCTATTACCTGATGTCGTTTG	0.348000													3	58					0	0	1	0	0
ARHGAP20	57569	broad.mit.edu	37	11	110451669	110451669	+	Silent	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr11:110451669C>T	ENST00000260283.4	-	16	2285	c.2001G>A	c.(1999-2001)aaG>aaA	p.K667K	ARHGAP20_ENST00000357139.3_Silent_p.K641K|ARHGAP20_ENST00000533353.1_Silent_p.K641K|ARHGAP20_ENST00000528829.1_Silent_p.K631K|ARHGAP20_ENST00000529591.1_Silent_p.K210K|ARHGAP20_ENST00000527598.1_Silent_p.K631K|ARHGAP20_ENST00000524756.1_Silent_p.K644K	NM_020809.3	NP_065860.2	Q9P2F6	RHG20_HUMAN	Rho GTPase activating protein 20	667					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	60		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)		GCAGTGGGATCTTTGTGTACA	0.507000													3	46					0	0	1	0	0
ABCB5	340273	broad.mit.edu	37	7	20698699	20698699	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr7:20698699G>A	ENST00000443026.2	+	6	929	c.383G>A	c.(382-384)aGg>aAg	p.R128K	ABCB5_ENST00000404938.2_Intron|ABCB5_ENST00000406935.1_Intron|ABCB5_ENST00000258738.6_Intron	NM_001163942.1	NP_001157414.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	0	ABC transporter 1.				regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						GATACCCCCAGGTATTCATTT	0.478000													18	159					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100696366	100696366	+	Silent	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr7:100696366G>A	ENST00000306151.4	+	10	13267	c.13203G>A	c.(13201-13203)ctG>ctA	p.L4401L		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	4401						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)					GGGTCGTGCTGATGCTGATCA	0.597000													6	47					0	0	1	0	0
CHAF1A	10036	broad.mit.edu	37	19	4428819	4428819	+	Silent	SNP	C	C	G			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr19:4428819C>G	ENST00000301280.5	+	8	1637	c.1536C>G	c.(1534-1536)ctC>ctG	p.L512L		NM_005483.2	NP_005474	Q13111	CAF1A_HUMAN	chromatin assembly factor 1, subunit A (p150)	512					cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|WINAC complex	chromatin binding|chromo shadow domain binding|unfolded protein binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	27		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		TGAAAGACCTCAAAGGCCGGC	0.612000								Chromatin Structure					11	60					0	0	1	0	0
UBR4	23352	broad.mit.edu	37	1	19454159	19454159	+	Silent	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr1:19454159G>A	ENST00000375267.2	-	63	9189	c.9186C>T	c.(9184-9186)ttC>ttT	p.F3062F	UBR4_ENST00000375226.2_Silent_p.F3038F|UBR4_ENST00000375254.3_Silent_p.F3062F|UBR4_ENST00000375217.2_Silent_p.F3055F			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	3062					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)		TGCGGGACATGAAGACACTCA	0.488000													10	102					0	0	1	0	0
OR2M4	26245	broad.mit.edu	37	1	248402892	248402892	+	Missense_Mutation	SNP	T	T	A	rs138162512		TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr1:248402892T>A	ENST00000306687.1	+	1	662	c.662T>A	c.(661-663)gTc>gAc	p.V221D		NM_017504.1	NP_059974.1	Q96R27	OR2M4_HUMAN	olfactory receptor, family 2, subfamily M, member 4	221					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(27)|skin(3)|upper_aerodigestive_tract(2)	50	all_cancers(71;0.000124)|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;0.0245)			TATTCCCATGTCCTTCGAGCC	0.483000													7	48					0	0	1	0	0
PPP6R3	55291	broad.mit.edu	37	11	68369379	68369379	+	Silent	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr11:68369379C>T	ENST00000393799.2	+	21	2508	c.2241C>T	c.(2239-2241)agC>agT	p.S747S	PPP6R3_ENST00000524904.1_Silent_p.S741S|PPP6R3_ENST00000265637.4_Silent_p.S701S|PPP6R3_ENST00000265636.5_Silent_p.S667S|PPP6R3_ENST00000529710.1_Silent_p.S667S|PPP6R3_ENST00000527403.2_Silent_p.S712S|PPP6R3_ENST00000534534.1_Silent_p.S515S|PPP6R3_ENST00000524845.1_Silent_p.S718S|PPP6R3_ENST00000393800.2_Silent_p.S747S|PPP6R3_ENST00000393801.3_Silent_p.S747S			Q5H9R7	PP6R3_HUMAN	protein phosphatase 6, regulatory subunit 3	747					regulation of phosphoprotein phosphatase activity	cytoplasm|nucleus	protein phosphatase binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(10)|liver(2)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						TGGAAACCAGCACTGAACCCA	0.517000													16	136					0	0	1	0	0
MTTP	4547	broad.mit.edu	37	4	100530103	100530103	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr4:100530103C>G	ENST00000457717.1	+	13	1994	c.1738C>G	c.(1738-1740)Caa>Gaa	p.Q580E	MTTP_ENST00000511045.1_Missense_Mutation_p.Q607E|MTTP_ENST00000265517.5_Missense_Mutation_p.Q580E|RP11-766F14.1_ENST00000508578.1_RNA	NM_000253.2	NP_000244.2	P55157	MTP_HUMAN	microsomal triglyceride transfer protein	580	Vitellogenin.				lipid metabolic process|lipoprotein metabolic process	endoplasmic reticulum lumen	lipid binding|lipid transporter activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)	CGCCATTGTTCAAGACATCCT	0.403000													20	100					0	0	1	0	0
MAPK9	5601	broad.mit.edu	37	5	179675973	179675973	+	Splice_Site	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr5:179675973C>T	ENST00000452135.2	-	6	914	c.616G>A	c.(616-618)Gtt>Att	p.V206I	MAPK9_ENST00000393360.3_Splice_Site_p.V206I|MAPK9_ENST00000343111.6_Splice_Site_p.V206M|MAPK9_ENST00000425491.2_Splice_Site_p.V206I|MAPK9_ENST00000524170.1_5'UTR|MAPK9_ENST00000347470.4_Splice_Site_p.A206T|MAPK9_ENST00000455781.1_Splice_Site_p.V206M|MAPK9_ENST00000397072.3_3'UTR|MAPK9_ENST00000539014.1_Splice_Site_p.A206T			P45984	MK09_HUMAN	mitogen-activated protein kinase 9	206	Protein kinase.				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|regulation of sequence-specific DNA binding 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|nucleoplasm	ATP binding|JUN kinase activity|protein binding			central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(89;6.54e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0236)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTATACTCACCGTTCTCTTTG	0.512000													34	436					0	0	1	0	0
ENPP1	5167	broad.mit.edu	37	6	132201159	132201159	+	Silent	SNP	T	T	C			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr6:132201159T>C	ENST00000360971.2	+	20	2105	c.2085T>C	c.(2083-2085)taT>taC	p.Y695Y		NM_006208.2	NP_006199.2	P22413	ENPP1_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 1	695	Nuclease.				3'-phosphoadenosine 5'-phosphosulfate metabolic process|biomineral tissue development|cellular phosphate ion homeostasis|cellular response to insulin stimulus|generation of precursor metabolites and energy|immune response|inorganic diphosphate transport|negative regulation of cell growth|negative regulation of fat cell differentiation|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of protein autophosphorylation|nucleoside triphosphate catabolic process|phosphate metabolic process|sequestering of triglyceride|water-soluble vitamin metabolic process	basolateral plasma membrane|cell surface|extracellular space|integral to membrane	ATP binding|insulin receptor binding|metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|protein homodimerization activity|scavenger receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(22)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	46	Breast(56;0.0505)			GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022)	Amifostine(DB01143)|Ribavirin(DB00811)	GGACATCCTATACCGTGGACA	0.403000													42	192					0	0	1	0	0
ZNF286A	57335	broad.mit.edu	37	17	15604513	15604513	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr17:15604513G>C	ENST00000464847.2	+	2	638	c.85G>C	c.(85-87)Gag>Cag	p.E29Q	ZNF286A_ENST00000395894.2_Missense_Mutation_p.E29Q|ZNF286A_ENST00000395893.2_Missense_Mutation_p.E29Q|ZNF286A_ENST00000421016.1_Missense_Mutation_p.E29Q|ZNF286A_ENST00000472486.1_Missense_Mutation_p.E19Q|ZNF286A_ENST00000583566.1_Missense_Mutation_p.E29Q|ZNF286A_ENST00000585171.1_3'UTR|ZNF286A_ENST00000413242.2_Missense_Mutation_p.E29Q|ZNF286A_ENST00000593105.1_Missense_Mutation_p.E19Q|ZNF286A_ENST00000580259.1_Missense_Mutation_p.E29Q|ZNF286A_ENST00000585194.1_Missense_Mutation_p.E29Q|ZNF286A_ENST00000581529.1_Missense_Mutation_p.E19Q			Q9HBT8	Z286A_HUMAN	zinc finger protein 286A	29					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(1115;0.0222)|BRCA - Breast invasive adenocarcinoma(8;0.0781)		GAGCACAGAAGAGGGAGAAGT	0.498000													3	188					0	0	1	0	0
WHSC1	7468	broad.mit.edu	37	4	1957023	1957023	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr4:1957023A>C	ENST00000382895.3	+	15	2905	c.2474A>C	c.(2473-2475)cAc>cCc	p.H825P	WHSC1_ENST00000382891.5_Missense_Mutation_p.H825P|WHSC1_ENST00000382888.3_Missense_Mutation_p.H173P|WHSC1_ENST00000382892.2_Missense_Mutation_p.H825P|WHSC1_ENST00000508803.1_Missense_Mutation_p.H825P|WHSC1_ENST00000482415.2_3'UTR	NM_133330.2	NP_579877.1	O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1	825					anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|cytoplasm|nuclear membrane|nucleolus	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		GGGAAGCGACACCACGCCCAC	0.612000			T	IGH@	MM								10	40					0	0	1	0	0
UBE2I	7329	broad.mit.edu	37	16	1374763	1374763	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr16:1374763G>A	ENST00000355803.4	+	7	997	c.446G>A	c.(445-447)cGa>cAa	p.R149Q	UBE2I_ENST00000403747.2_Missense_Mutation_p.R149Q|UBE2I_ENST00000406620.1_Missense_Mutation_p.R149Q|UBE2I_ENST00000566587.1_Missense_Mutation_p.R149Q|UBE2I_ENST00000397514.3_Missense_Mutation_p.R149Q|UBE2I_ENST00000325437.5_Missense_Mutation_p.R149Q|UBE2I_ENST00000397515.2_Missense_Mutation_p.R149Q	NM_194260.2	NP_919236.1	P63279	UBC9_HUMAN	ubiquitin-conjugating enzyme E2I	149					cell division|chromosome segregation|interspecies interaction between organisms|mitosis|negative regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|protein sumoylation	cytoplasm|PML body|synaptonemal complex	ATP binding|enzyme binding|ubiquitin-protein ligase activity			breast(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(1)	5		Hepatocellular(780;0.00369)				AAAAGGGTCCGAGCACAAGCC	0.522000													9	59					0	0	1	0	0
C19orf60	55049	broad.mit.edu	37	19	18700384	18700384	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr19:18700384C>T	ENST00000358607.6	+	3	421	c.344C>T	c.(343-345)tCg>tTg	p.S115L	C19orf60_ENST00000450195.2_Missense_Mutation_p.S93L|CRLF1_ENST00000594325.1_Intron	NM_001100418.1|NM_001100419.1	NP_001093888.1|NP_001093889.1	Q96EN9	CS060_HUMAN	chromosome 19 open reading frame 60	115							protein binding										GCCGCCGCCTCGCGGGAGGTG	0.741000													3	7					0	0	1	0	0
TAS1R3	83756	broad.mit.edu	37	1	1267276	1267276	+	Silent	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr1:1267276C>T	ENST00000339381.5	+	2	482	c.450C>T	c.(448-450)gcC>gcT	p.A150A		NM_152228.1	NP_689414	Q7RTX0	TS1R3_HUMAN	taste receptor, type 1, member 3	150					detection of chemical stimulus involved in sensory perception of sweet taste|sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity			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)	CAGAGCTCGCCATGGTCACCG	0.677000													17	61					0	0	1	0	0
CASP6	839	broad.mit.edu	37	4	110612078	110612078	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr4:110612078C>T	ENST00000265164.2	-	6	648	c.571G>A	c.(571-573)Gag>Aag	p.E191K	CASP6_ENST00000510324.1_5'UTR|CASP6_ENST00000352981.3_Missense_Mutation_p.E102K	NM_001226.3	NP_001217.2	P55212	CASP6_HUMAN	caspase 6, apoptosis-related cysteine peptidase	191					cellular component disassembly involved in apoptosis|induction of apoptosis|proteolysis	cytosol|nucleoplasm	cysteine-type endopeptidase activity|protein binding			breast(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	8		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000171)		GCATCCACCTCAGTTATGTTG	0.468000													15	80					0	0	1	0	0
ODF1	4956	broad.mit.edu	37	8	103564039	103564039	+	Silent	SNP	C	C	T	rs142790437		TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr8:103564039C>T	ENST00000285402.3	+	1	240	c.84C>T	c.(82-84)atC>atT	p.I28I		NM_024410.3	NP_077721.2	Q14990	ODFP1_HUMAN	outer dense fiber of sperm tails 1	28					cell differentiation|multicellular organismal development|spermatogenesis	outer dense fiber	structural molecule activity	p.I28I(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(14;2.76e-05)|all_epithelial(15;4.54e-08)|Lung NSC(17;4.08e-05)|all_lung(17;9.15e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000125)|STAD - Stomach adenocarcinoma(118;0.0826)			TGAGATGCATCGACGAATTTA	0.483000													25	145					0	0	1	0	0
WNK1	65125	broad.mit.edu	37	12	989996	989996	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr12:989996C>T	ENST00000537687.1	+	12	4365	c.3722C>T	c.(3721-3723)cCg>cTg	p.P1241L	WNK1_ENST00000530271.2_Missense_Mutation_p.P1479L|WNK1_ENST00000315939.6_Missense_Mutation_p.P981L|WNK1_ENST00000535572.1_Intron|WNK1_ENST00000340908.4_Missense_Mutation_p.P574L	NM_001184985.1|NM_213655.4	NP_001171914.1|NP_998820.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	981					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			CCTCCCATGCCGACAGAAGTA	0.502000													5	321					0	0	1	0	0
OR2T2	401992	broad.mit.edu	37	1	248616329	248616329	+	Silent	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr1:248616329C>T	ENST00000342927.3	+	1	253	c.231C>T	c.(229-231)atC>atT	p.I77I		NM_001004136.1	NP_001004136.1	Q6IF00	OR2T2_HUMAN	olfactory receptor, family 2, subfamily T, member 2	77					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)			ACATCTGTATCACTGTCCCCA	0.522000													6	164					0	0	1	0	0
MMP14	4323	broad.mit.edu	37	14	23306101	23306101	+	Silent	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr14:23306101C>T	ENST00000311852.6	+	1	336	c.75C>T	c.(73-75)ctC>ctT	p.L25L	MMP14_ENST00000548162.1_3'UTR	NM_004995.2	NP_004986.1	P50281	MMP14_HUMAN	matrix metallopeptidase 14 (membrane-inserted)	25						extracellular matrix|integral to plasma membrane|melanosome	calcium ion binding|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	20	all_cancers(95;9.47e-05)			GBM - Glioblastoma multiforme(265;0.00551)		TCGCCTCCCTCGGCTCGGCCC	0.726000											OREG0022586	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	47					0	0	1	0	0
EOMES	8320	broad.mit.edu	37	3	27763709	27763709	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr3:27763709C>T	ENST00000295743.4	-	1	280	c.77G>A	c.(76-78)cGa>cAa	p.R26Q	EOMES_ENST00000537516.1_Intron|EOMES_ENST00000449599.1_Missense_Mutation_p.R26Q|EOMES_ENST00000461503.1_Intron			O95936	EOMES_HUMAN	eomesodermin	26					CD8-positive, alpha-beta T cell differentiation involved in immune response|cell differentiation involved in embryonic placenta development|endoderm formation|mesoderm formation|mesodermal to mesenchymal transition involved in gastrulation|positive regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)	21						GCTGCCGCCTCGCGCACTCTC	0.637000													4	9					0	0	1	0	0
LYST	1130	broad.mit.edu	37	1	235969823	235969823	+	Silent	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr1:235969823G>A	ENST00000389794.3	-	6	2787	c.2613C>T	c.(2611-2613)ctC>ctT	p.L871L	LYST_ENST00000536965.1_Silent_p.L871L|LYST_ENST00000389793.2_Silent_p.L871L			Q99698	LYST_HUMAN	lysosomal trafficking regulator	871					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			AAAATTTGCTGAGACTCTGAG	0.398000													14	106					0	0	1	0	0
IRF2	3660	broad.mit.edu	37	4	185340623	185340623	+	Splice_Site	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr4:185340623C>T	ENST00000393593.3	-	3	394	c.187G>A	c.(187-189)Gga>Aga	p.G63R	IRF2_ENST00000512020.1_5'UTR	NM_002199.3	NP_002190.2	P14316	IRF2_HUMAN	interferon regulatory factor 2	63					blood coagulation|cell proliferation|interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	focal adhesion|nucleoplasm	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(2)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	22		all_lung(41;7.86e-14)|Lung NSC(41;1.87e-13)|Colorectal(36;0.00146)|Hepatocellular(41;0.00826)|Renal(120;0.00992)|Prostate(90;0.0115)|all_neural(102;0.0573)|all_hematologic(60;0.0592)		all cancers(43;3.94e-27)|Epithelial(43;5.3e-24)|OV - Ovarian serous cystadenocarcinoma(60;1.06e-10)|Colorectal(24;7.98e-07)|STAD - Stomach adenocarcinoma(60;3.95e-05)|GBM - Glioblastoma multiforme(59;8.3e-05)|COAD - Colon adenocarcinoma(29;0.000106)|BRCA - Breast invasive adenocarcinoma(30;0.000311)|LUSC - Lung squamous cell carcinoma(40;0.0128)|READ - Rectum adenocarcinoma(43;0.0419)		GTTTTAGTACCTGTATGGATT	0.433000													26	92					0	0	1	0	0
NCOA4	8031	broad.mit.edu	37	10	51584877	51584877	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr10:51584877G>C	ENST00000452682.1	+	9	1276	c.1024G>C	c.(1024-1026)Gag>Cag	p.E342Q	NCOA4_ENST00000374082.1_Missense_Mutation_p.E326Q|NCOA4_ENST00000430396.2_Missense_Mutation_p.E226Q|NCOA4_ENST00000344348.6_Missense_Mutation_p.E326Q|NCOA4_ENST00000374087.4_Missense_Mutation_p.E326Q|NCOA4_ENST00000414907.2_Missense_Mutation_p.E160Q|NCOA4_ENST00000443446.1_Missense_Mutation_p.E326Q|NCOA4_ENST00000438493.1_Missense_Mutation_p.E342Q	NM_001145260.1	NP_001138732.1	Q13772	NCOA4_HUMAN	nuclear receptor coactivator 4	326					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						TGAAACCAGTGAGAAGTTTAA	0.478000			T	RET	papillary thyroid								5	74					0	0	1	0	0
PCDHGA2	56113	broad.mit.edu	37	5	140719425	140719425	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr5:140719425C>T	ENST00000394576.2	+	1	887	c.887C>T	c.(886-888)tCa>tTa	p.S296L	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)			GAGCTTAAGTCAACATCTGGA	0.443000													15	155					0	0	1	0	0
PEX5L	51555	broad.mit.edu	37	3	179597763	179597763	+	Silent	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr3:179597763C>T	ENST00000467460.1	-	5	789	c.459G>A	c.(457-459)caG>caA	p.Q153Q	PEX5L_ENST00000468741.1_5'UTR|PEX5L_ENST00000392649.3_Intron|PEX5L_ENST00000472994.1_Silent_p.Q94Q|PEX5L_ENST00000467440.2_Intron|PEX5L_ENST00000464614.1_Intron|PEX5L_ENST00000465751.1_Silent_p.Q129Q|PEX5L_ENST00000485199.1_Silent_p.Q118Q|PEX5L_ENST00000476138.1_Silent_p.Q110Q|PEX5L-AS1_ENST00000466064.1_RNA|PEX5L_ENST00000263962.8_Silent_p.Q151Q	NM_001256751.1|NM_016559.2	NP_001243680.1|NP_057643.1	Q8IYB4	PEX5R_HUMAN	peroxisomal biogenesis factor 5-like	153					protein import into peroxisome matrix|regulation of cAMP-mediated signaling	cytosol|peroxisomal membrane	peroxisome matrix targeting signal-1 binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)			GCTGGCCTCTCTGCTCAGCAT	0.512000													9	72					0	0	1	0	0
BMP15	9210	broad.mit.edu	37	X	50659572	50659572	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chrX:50659572G>A	ENST00000252677.3	+	2	1144	c.1144G>A	c.(1144-1146)Gag>Aag	p.E382K		NM_005448.2	NP_005439.2	O95972	BMP15_HUMAN	bone morphogenetic protein 15	382					female gamete generation|granulosa cell development|ovarian follicle development	extracellular space	cytokine activity|growth factor activity			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(1)	26	Ovarian(276;0.236)					CAAGGAGTATGAGGGTATGAT	0.453000													7	63					0	0	1	0	0
AMOTL2	51421	broad.mit.edu	37	3	134085127	134085127	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr3:134085127C>G	ENST00000514516.1	-	4	1536	c.1358G>C	c.(1357-1359)aGa>aCa	p.R453T	AMOTL2_ENST00000513145.1_Missense_Mutation_p.R395T|AMOTL2_ENST00000422605.2_Missense_Mutation_p.R395T|AMOTL2_ENST00000249883.5_Missense_Mutation_p.R395T	NM_001278683.1	NP_001265612.1	Q9Y2J4	AMOL2_HUMAN	angiomotin like 2	395										endometrium(8)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	19						GCTCTCACCTCTAAGATCCCG	0.498000													39	359					0	0	1	0	0
RGS10	6001	broad.mit.edu	37	10	121286922	121286922	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr10:121286922C>G	ENST00000392865.1	-	2	84	c.22G>C	c.(22-24)Gat>Cat	p.D8H	RGS10_ENST00000369101.3_Missense_Mutation_p.D14H|RGS10_ENST00000369103.2_Missense_Mutation_p.D22H	NM_002925.3	NP_002916.1	O43665	RGS10_HUMAN	regulator of G-protein signaling 10	14					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|protein binding|signal transducer activity			breast(2)|large_intestine(1)|lung(3)	6		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.00105)|GBM - Glioblastoma multiforme(135;0.195)		GAACTGCCATCGCTGTCGTGG	0.517000													11	69					0	0	1	0	0
TIMELESS	8914	broad.mit.edu	37	12	56822689	56822689	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr12:56822689C>T	ENST00000229201.4	-	11	1433	c.1279G>A	c.(1279-1281)Gaa>Aaa	p.E427K	TIMELESS_ENST00000554616.1_Intron|TIMELESS_ENST00000553532.1_Missense_Mutation_p.E428K	NM_003920.3	NP_003911.2	Q9UNS1	TIM_HUMAN	timeless circadian clock	428					cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent	nuclear chromatin				NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						GAGGCAGCTTCCTTGCGGTCA	0.532000													12	38					0	0	1	0	0
KIAA2026	158358	broad.mit.edu	37	9	5968412	5968412	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr9:5968412G>A	ENST00000399933.3	-	3	1818	c.1819C>T	c.(1819-1821)Cca>Tca	p.P607S	KIAA2026_ENST00000381461.2_Missense_Mutation_p.P607S	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN	KIAA2026	607										breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		ATTTCACCTGGACTAAGAGGC	0.363000													5	74					0	0	1	0	0
DSTYK	25778	broad.mit.edu	37	1	205138805	205138805	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr1:205138805C>G	ENST00000367162.3	-	3	840	c.810G>C	c.(808-810)aaG>aaC	p.K270N	DSTYK_ENST00000367161.3_Missense_Mutation_p.K270N|DSTYK_ENST00000367160.4_Missense_Mutation_p.K270N	NM_015375.2	NP_056190.1	Q6XUX3	DUSTY_HUMAN	dual serine/threonine and tyrosine protein kinase	270						cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(2)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)	14						AGGAGAAATACTTTCGGATTT	0.448000													3	55					0	0	1	0	0
EFCAB5	374786	broad.mit.edu	37	17	28296147	28296147	+	Nonsense_Mutation	SNP	A	A	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr17:28296147A>T	ENST00000394835.3	+	4	721	c.529A>T	c.(529-531)Aaa>Taa	p.K177*	EFCAB5_ENST00000536908.2_Nonsense_Mutation_p.K121*|EFCAB5_ENST00000541045.1_Intron|EFCAB5_ENST00000378738.3_Nonsense_Mutation_p.K177*|EFCAB5_ENST00000320856.5_Nonsense_Mutation_p.K177*|EFCAB5_ENST00000534836.2_Intron|EFCAB5_ENST00000394832.2_Nonsense_Mutation_p.K177*	NM_198529.3	NP_940931	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5	177							calcium ion binding			breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						TTTGCTTGACAAACTTCTACC	0.378000													3	33					0	0	1	0	0
MCM6	4175	broad.mit.edu	37	2	136610439	136610439	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr2:136610439C>T	ENST00000264156.2	-	12	1733	c.1673G>A	c.(1672-1674)aGa>aAa	p.R558K	MCM6_ENST00000492091.1_Intron	NM_005915.5	NP_005906.2	Q14566	MCM6_HUMAN	minichromosome maintenance complex component 6	558					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|identical protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(15)|prostate(2)|skin(1)	29				BRCA - Breast invasive adenocarcinoma(221;0.166)	Atorvastatin(DB01076)	TTCCTCAATTCTTGAATGCAA	0.368000													7	46					0	0	1	0	0
DHRS11	79154	broad.mit.edu	37	17	34956406	34956406	+	Silent	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr17:34956406C>T	ENST00000251312.5	+	6	893	c.681C>T	c.(679-681)ctC>ctT	p.L227L	DHRS11_ENST00000590554.1_Silent_p.L148L	NM_024308.3	NP_077284.2	Q6UWP2	DHR11_HUMAN	dehydrogenase/reductase (SDR family) member 11	227						extracellular region	binding|oxidoreductase activity			endometrium(1)|lung(4)	5						CTCAGTGTCTCAAACCCGAGG	0.567000													5	31					0	0	1	0	0
TTC3	7267	broad.mit.edu	37	21	38537894	38537894	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr21:38537894G>A	ENST00000399017.2	+	33	6125	c.3378G>A	c.(3376-3378)atG>atA	p.M1126I	TTC3_ENST00000479930.1_3'UTR|TTC3_ENST00000354749.2_Missense_Mutation_p.M1126I|TTC3_ENST00000355666.1_Missense_Mutation_p.M1126I	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	1126					protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				CCTTGGACATGAGTAACAAGA	0.363000													9	137					0	0	1	0	0
SMARCA2	6595	broad.mit.edu	37	9	2054650	2054650	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr9:2054650C>T	ENST00000382203.1	+	6	1309	c.1100C>T	c.(1099-1101)tCt>tTt	p.S367F	SMARCA2_ENST00000382194.1_Missense_Mutation_p.S367F|SMARCA2_ENST00000349721.2_Missense_Mutation_p.S367F|SMARCA2_ENST00000357248.2_Missense_Mutation_p.S367F			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	367					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)		CTGCCTGGCTCTTTGCCACCA	0.443000													17	82					0	0	1	0	0
CRELD2	79174	broad.mit.edu	37	22	50318084	50318084	+	Silent	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr22:50318084G>A	ENST00000404488.3	+	9	1131	c.996G>A	c.(994-996)agG>agA	p.R332R	CRELD2_ENST00000407217.3_Intron|CRELD2_ENST00000328268.4_Silent_p.R283R|CRELD2_ENST00000444954.1_3'UTR|CRELD2_ENST00000403427.3_Silent_p.R255R	NM_001135101.1	NP_001128573.1	Q6UXH1	CREL2_HUMAN	cysteine-rich with EGF-like domains 2	283						endoplasmic reticulum|extracellular region	calcium ion binding			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|stomach(3)	9		all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236)		BRCA - Breast invasive adenocarcinoma(115;0.198)|LUAD - Lung adenocarcinoma(64;0.247)		GCTACGCGAGGGAGCACGGAC	0.597000													5	17					0	0	1	0	0
CACNA1G	8913	broad.mit.edu	37	17	48701395	48701395	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr17:48701395C>T	ENST00000352832.5	+	32	6179	c.5807C>T	c.(5806-5808)cCc>cTc	p.P1936L	CACNA1G_ENST00000358244.5_Missense_Mutation_p.P1936L|CACNA1G_ENST00000514079.1_Missense_Mutation_p.P1977L|CACNA1G_ENST00000512389.1_Missense_Mutation_p.P1959L|CACNA1G_ENST00000513964.1_Missense_Mutation_p.P1925L|CACNA1G_ENST00000507609.1_Missense_Mutation_p.P1963L|CACNA1G_ENST00000503485.1_Missense_Mutation_p.P1936L|CACNA1G_ENST00000513689.2_Missense_Mutation_p.P1973L|CACNA1G_ENST00000354983.4_Missense_Mutation_p.P2029L|CACNA1G_ENST00000442258.2_Missense_Mutation_p.P1929L|CACNA1G_ENST00000507336.1_Missense_Mutation_p.P2052L|CACNA1G_ENST00000429973.2_Missense_Mutation_p.P1952L|CACNA1G_ENST00000514181.1_Missense_Mutation_p.P1945L|CACNA1G_ENST00000502264.1_Missense_Mutation_p.P1992L|CACNA1G_ENST00000359106.5_Missense_Mutation_p.P2063L|CACNA1G_ENST00000510115.1_Missense_Mutation_p.P1984L|CACNA1G_ENST00000507896.1_Missense_Mutation_p.P1959L|CACNA1G_ENST00000510366.1_Missense_Mutation_p.P1918L|CACNA1G_ENST00000515411.1_Missense_Mutation_p.P2000L|CACNA1G_ENST00000507510.2_Missense_Mutation_p.P2018L|CACNA1G_ENST00000514717.1_Missense_Mutation_p.P1913L|CACNA1G_ENST00000515765.1_Missense_Mutation_p.P2007L|CACNA1G_ENST00000360761.4_Missense_Mutation_p.P1947L|CACNA1G_ENST00000505165.1_Missense_Mutation_p.P1970L|CACNA1G_ENST00000515165.1_Missense_Mutation_p.P1970L	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	2063					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	GCCGAGGGGCCCCTGGGACAC	0.612000													10	55					0	0	1	0	0
EIF4G3	8672	broad.mit.edu	37	1	21154159	21154159	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr1:21154159C>G	ENST00000602326.1	-	30	4653	c.4070G>C	c.(4069-4071)aGa>aCa	p.R1357T	EIF4G3_ENST00000536266.1_Missense_Mutation_p.R955T|EIF4G3_ENST00000374935.3_Missense_Mutation_p.R1071T|EIF4G3_ENST00000537738.1_Missense_Mutation_p.R841T|EIF4G3_ENST00000400422.1_Missense_Mutation_p.R1351T|EIF4G3_ENST00000374937.3_Missense_Mutation_p.R1357T|EIF4G3_ENST00000264211.8_Missense_Mutation_p.R1351T	NM_001198802.1	NP_001185731.1	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	1351					interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|RNA cap binding|translation initiation factor activity			endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		GACCCCAGCTCTTCCAACAGG	0.388000													3	55					0	0	1	0	0
NOX4	50507	broad.mit.edu	37	11	89177304	89177304	+	Splice_Site	SNP	T	T	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr11:89177304T>A	ENST00000535633.1	-	5	684	c.374A>T	c.(373-375)gAg>gTg	p.E125V	NOX4_ENST00000527626.1_Intron|NOX4_ENST00000343727.5_Splice_Site_p.E125V|NOX4_ENST00000534731.1_Splice_Site_p.E149V|NOX4_ENST00000525196.1_Splice_Site_p.E149V|NOX4_ENST00000413594.2_Splice_Site_p.E170V|NOX4_ENST00000263317.4_Splice_Site_p.E149V|NOX4_ENST00000375979.3_Intron|NOX4_ENST00000527956.1_Splice_Site_p.E125V|NOX4_ENST00000532825.1_Splice_Site_p.E125V|NOX4_ENST00000531342.1_Intron|NOX4_ENST00000528341.1_Splice_Site_p.E124V|NOX4_ENST00000424319.1_Splice_Site_p.E125V|NOX4_ENST00000542487.1_Splice_Site_p.E125V	NM_001143836.1|NM_016931.3	NP_001137308.1|NP_058627.1	Q9NPH5	NOX4_HUMAN	NADPH oxidase 4	149	Ferric oxidoreductase.				cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation	endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus	electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|nucleotide binding|oxygen sensor activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2)	44		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)				ACCACCCACCTCATCTCGGTA	0.448000													13	125					0	0	1	0	0
UBXN1	51035	broad.mit.edu	37	11	62444099	62444099	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr11:62444099G>A	ENST00000301935.5	-	9	1023	c.857C>T	c.(856-858)tCt>tTt	p.S286F	UBXN1_ENST00000294119.2_3'UTR|UBXN1_ENST00000529640.1_Missense_Mutation_p.S282F|UBXN1_ENST00000533000.1_Silent_p.L80L			Q04323	UBXN1_HUMAN	UBX domain protein 1	286	Interaction with BRCA1.|UBX.				negative regulation of proteasomal ubiquitin-dependent protein catabolic process|negative regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process	cytoplasm	ATPase binding|K6-linked polyubiquitin binding			endometrium(5)|lung(12)	17						GAGAACAGCAGAAGGCACGAG	0.483000													3	6					0	0	1	0	0
JAG1	182	broad.mit.edu	37	20	10620148	10620148	+	Nonstop_Mutation	SNP	A	A	G			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr20:10620148A>G	ENST00000254958.5	-	26	4170	c.3655T>C	c.(3655-3657)Tag>Cag	p.*1219Q	JAG1_ENST00000423891.2_Nonstop_Mutation_p.*1060Q	NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN	jagged 1	0					angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation	extracellular region|integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding|structural molecule activity			biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						GCGGTCTGCTATACGATGTAC	0.522000									Alagille Syndrome				18	178					0	0	1	0	0
EXOC4	60412	broad.mit.edu	37	7	133502151	133502151	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr7:133502151G>T	ENST00000253861.4	+	11	1617	c.1588G>T	c.(1588-1590)Gtg>Ttg	p.V530L	EXOC4_ENST00000539845.1_Missense_Mutation_p.V429L|EXOC4_ENST00000460346.1_3'UTR|EXOC4_ENST00000545148.1_Missense_Mutation_p.V140L	NM_021807.3	NP_068579.3	Q96A65	EXOC4_HUMAN	exocyst complex component 4	530					vesicle docking involved in exocytosis	exocyst	protein N-terminus binding			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	50		Esophageal squamous(399;0.129)				GTTTCTCACCGTGTACATCAA	0.433000													3	34					0.150653	0.152408	1	1	0
SLC39A11	201266	broad.mit.edu	37	17	71027826	71027826	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr17:71027826G>A	ENST00000542342.2	-	4	263	c.175C>T	c.(175-177)Ctt>Ttt	p.L59F	SLC39A11_ENST00000255559.3_Missense_Mutation_p.L59F|SLC39A11_ENST00000579732.1_Missense_Mutation_p.L59F	NM_001159770.1	NP_001153242.1	Q8N1S5	S39AB_HUMAN	solute carrier family 39, member 11	59					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			endometrium(1)|large_intestine(4)|liver(2)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16						GGGGCCAGAAGAGACCAATAG	0.537000													3	32					0	0	1	0	0
GABRA4	2557	broad.mit.edu	37	4	46973161	46973161	+	Silent	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr4:46973161C>T	ENST00000264318.3	-	7	1795	c.813G>A	c.(811-813)gtG>gtA	p.V271V		NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 4	271					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			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	GAGAAAGAATCACTGTCATAA	0.363000													9	32					0	0	1	0	0
GIGYF1	64599	broad.mit.edu	37	7	100283075	100283075	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr7:100283075G>A	ENST00000275732.5	-	10	2293	c.1084C>T	c.(1084-1086)Cag>Tag	p.Q362*	GIGYF1_ENST00000471340.2_Intron	NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN	GRB10 interacting GYF protein 1	362										central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					TTCTCCTCCTGAGGAGGCAGT	0.627000													4	30					0	0	1	0	0
SYNE2	23224	broad.mit.edu	37	14	64457211	64457211	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr14:64457211C>G	ENST00000358025.3	+	20	2626	c.2396C>G	c.(2395-2397)tCa>tGa	p.S799*	SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000344113.4_Nonsense_Mutation_p.S799*|SYNE2_ENST00000554584.1_Nonsense_Mutation_p.S799*	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	799					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		CAAAATATTTCAAGCCAGGAG	0.353000													8	94					0	0	1	0	0
NFX1	4799	broad.mit.edu	37	9	33313681	33313681	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr9:33313681C>T	ENST00000379540.3	+	7	1540	c.1478C>T	c.(1477-1479)tCa>tTa	p.S493L	NFX1_ENST00000379521.4_Missense_Mutation_p.S493L|NFX1_ENST00000318524.6_Missense_Mutation_p.S493L	NM_002504.4	NP_002495.2	Q12986	NFX1_HUMAN	nuclear transcription factor, X-box binding 1	493					inflammatory response|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|ligase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25			LUSC - Lung squamous cell carcinoma(29;0.00506)	GBM - Glioblastoma multiforme(74;0.224)		CAGGCTGTCTCAGTCCACTGT	0.483000													16	126					0	0	1	0	0
EPPK1	83481	broad.mit.edu	37	8	144941802	144941802	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr8:144941802G>A	ENST00000525985.1	-	2	5691	c.5620C>T	c.(5620-5622)Cgt>Tgt	p.R1874C				P58107	EPIPL_HUMAN	epiplakin 1	1874						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CTCCCCACACGAAGTGTGTGC	0.607000													9	36					0	0	1	0	0
VPS13B	157680	broad.mit.edu	37	8	100712095	100712095	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr8:100712095G>A	ENST00000358544.2	+	36	6575	c.6464G>A	c.(6463-6465)tGc>tAc	p.C2155Y	VPS13B_ENST00000357162.2_Missense_Mutation_p.C2130Y|VPS13B_ENST00000395996.1_3'UTR	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	2155					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			AGCAAACCATGCCTGTTAGCA	0.443000													8	56					0	0	1	0	0
ZDHHC6	64429	broad.mit.edu	37	10	114190585	114190585	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr10:114190585C>T	ENST00000369405.3	-	11	1642	c.1219G>A	c.(1219-1221)Gag>Aag	p.E407K	ZDHHC6_ENST00000369404.3_Missense_Mutation_p.E403K|ZDHHC6_ENST00000482410.1_5'UTR	NM_022494.1	NP_071939.1	Q9H6R6	ZDHC6_HUMAN	zinc finger, DHHC-type containing 6	407						integral to membrane	acyltransferase activity|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Colorectal(252;0.198)		Epithelial(162;0.0291)|all cancers(201;0.117)		TTCTCCCCCTCTGGGGCTTGA	0.358000													6	74					0	0	1	0	0
PKD1L1	168507	broad.mit.edu	37	7	47898448	47898448	+	Silent	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr7:47898448G>A	ENST00000289672.2	-	27	4235	c.4185C>T	c.(4183-4185)taC>taT	p.Y1395Y		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	1395	REJ.				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						GTGCCCGGGTGTACTTGAGGA	0.502000													3	49					0	0	1	0	0
ADAMTS2	9509	broad.mit.edu	37	5	178555036	178555036	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr5:178555036G>T	ENST00000251582.7	-	17	2642	c.2541C>A	c.(2539-2541)aaC>aaA	p.N847K		NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	847	Spacer.				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.N847N(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		CTTCCAGGACGTTGTTGTCGT	0.587000													12	93					6.72482e-11	7.36701e-11	1	1	0
C4orf21	55345	broad.mit.edu	37	4	113524748	113524748	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr4:113524748C>T	ENST00000505019.1	-	10	3033	c.2908G>A	c.(2908-2910)Gag>Aag	p.E970K	C4orf21_ENST00000309071.5_Missense_Mutation_p.E970K	NM_018392.4	NP_060862.3	Q86YA3	CD021_HUMAN	chromosome 4 open reading frame 21	970								p.E970*(2)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		TTTTCATACTCAGTGCTATCT	0.403000													12	72					0	0	1	0	0
GBF1	8729	broad.mit.edu	37	10	104111130	104111130	+	Splice_Site	SNP	A	A	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr10:104111130A>T	ENST00000369983.3	+	5	673	c.413A>T	c.(412-414)cAg>cTg	p.Q138L		NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN	golgi brefeldin A resistant guanine nucleotide exchange factor 1	138					COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		AAAATCCTTCAGGTAAGCGAG	0.517000													8	42					0	0	1	0	0
ZACN	353174	broad.mit.edu	37	17	74075572	74075572	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr17:74075572C>G	ENST00000334586.5	+	2	233	c.150C>G	c.(148-150)atC>atG	p.I50M	ZACN_ENST00000392503.2_Missense_Mutation_p.I50M	NM_180990.3	NP_851321.2	Q401N2	ZACN_HUMAN	zinc activated ligand-gated ion channel	50					response to zinc ion	integral to membrane|membrane fraction|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	11						AGGAAAGCATCCAGATCCCGA	0.547000													6	37					0	0	1	0	0
PKD1	5310	broad.mit.edu	37	16	2155953	2155953	+	Silent	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr16:2155953G>A	ENST00000262304.4	-	20	7984	c.7776C>T	c.(7774-7776)acC>acT	p.T2592T	PKD1_ENST00000561991.1_5'UTR|PKD1_ENST00000423118.1_Silent_p.T2592T	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	2592	REJ.				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						GCACACTAGCGGTGAGCCCGT	0.662000													4	44					0	0	1	0	0
PLCB2	5330	broad.mit.edu	37	15	40586548	40586548	+	Silent	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr15:40586548G>A	ENST00000260402.3	-	19	2229	c.1980C>T	c.(1978-1980)ttC>ttT	p.F660F	PLCB2_ENST00000456256.2_Silent_p.F660F|PLCB2_ENST00000557821.1_Silent_p.F656F	NM_001284297.1|NM_004573.2	NP_001271226.1|NP_004564.2	Q00722	PLCB2_HUMAN	phospholipase C, beta 2	660	PI-PLC Y-box.				activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)		GCCGGCGCATGAACTCATGCT	0.592000													18	50					0	0	1	0	0
SOS2	6655	broad.mit.edu	37	14	50671004	50671004	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr14:50671004C>G	ENST00000216373.5	-	2	485	c.211G>C	c.(211-213)Gag>Cag	p.E71Q	SOS2_ENST00000543680.1_Missense_Mutation_p.E71Q	NM_006939.2	NP_008870.2	Q07890	SOS2_HUMAN	son of sevenless homolog 2 (Drosophila)	71					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	DNA binding|protein binding|Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(16)|ovary(2)|skin(1)	39	all_epithelial(31;0.000822)|Breast(41;0.0065)					ATTTTTACCTCTACATCTTGA	0.313000													16	158					0	0	1	0	0
LPA	4018	broad.mit.edu	37	6	160978430	160978430	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr6:160978430G>C	ENST00000447678.1	-	30	4925	c.4805C>G	c.(4804-4806)tCt>tGt	p.S1602C	LPA_ENST00000316300.5_Missense_Mutation_p.S1602C	NM_005577.2	NP_005568.2	P08519	APOA_HUMAN	lipoprotein, Lp(a)	4110	Kringle 14.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	ACCTGCTTCAGAATGAGCCTC	0.458000													7	111					0	0	1	0	0
ARMC7	79637	broad.mit.edu	37	17	73124975	73124975	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr17:73124975C>T	ENST00000245543.1	+	3	741	c.439C>T	c.(439-441)Cgc>Tgc	p.R147C	ARMC7_ENST00000579096.1_3'UTR|ARMC7_ENST00000581078.1_3'UTR	NM_024585.2	NP_078861.1	Q9H6L4	ARMC7_HUMAN	armadillo repeat containing 7	147							binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|pancreas(3)	9	all_lung(278;0.14)|Lung NSC(278;0.168)		LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)			GTGCATGCTTCGCTTCTCCCT	0.692000													3	30					0	0	1	0	0
CFH	3075	broad.mit.edu	37	1	196697623	196697623	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr1:196697623G>C	ENST00000367429.4	+	15	2624	c.2384G>C	c.(2383-2385)gGa>gCa	p.G795A		NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	795	Sushi 13.				complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						TGCATAAATGGAAGATGGGAT	0.338000													6	85					0	0	1	0	0
BCHE	590	broad.mit.edu	37	3	165548711	165548711	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr3:165548711C>G	ENST00000264381.3	-	2	277	c.111G>C	c.(109-111)aaG>aaC	p.K37N	BCHE_ENST00000540653.1_Intron	NM_000055.2	NP_000046.1	P06276	CHLE_HUMAN	butyrylcholinesterase	37					choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic	endoplasmic reticulum lumen|extracellular space|membrane	acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55					Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116)	CTTTTCCATTCTTTGTTGCAA	0.408000													3	44					0	0	1	0	0
XAGE5	170627	broad.mit.edu	37	X	52844216	52844216	+	Silent	SNP	A	A	C			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chrX:52844216A>C	ENST00000351072.1	+	4	345	c.279A>C	c.(277-279)tcA>tcC	p.S93S	XAGE5_ENST00000445860.2_3'UTR|XAGE5_ENST00000375501.1_Silent_p.S93S|XAGE5_ENST00000375503.3_3'UTR|XAGE5_ENST00000425386.1_Silent_p.S93S			Q8WWM1	GAGD5_HUMAN	X antigen family, member 5	93										endometrium(1)|large_intestine(1)|lung(5)|ovary(1)	8						TGCCAAAATCAGAGCAATTTA	0.388000													7	22					0	0	1	0	0
NAPRT1	93100	broad.mit.edu	37	8	144660103	144660103	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr8:144660103G>C	ENST00000449291.2	-	2	531	c.237C>G	c.(235-237)ttC>ttG	p.F79L	NAPRT1_ENST00000276844.7_Missense_Mutation_p.F79L|NAPRT1_ENST00000435154.3_Missense_Mutation_p.F79L|NAPRT1_ENST00000426292.3_Missense_Mutation_p.F79L			Q6XQN6	PNCB_HUMAN	nicotinate phosphoribosyltransferase domain containing 1	79					nicotinamide metabolic process|nicotinate nucleotide salvage|response to oxidative stress|water-soluble vitamin metabolic process	cytosol|Golgi apparatus|nucleus	nicotinate phosphoribosyltransferase activity|nicotinate-nucleotide diphosphorylase (carboxylating) activity			endometrium(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	6	all_cancers(97;6.49e-11)|all_epithelial(106;4.73e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.014)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.146)			CCGAGGCCAGGAACTGCACGT	0.672000													3	62					0	0	1	0	0
VCPIP1	80124	broad.mit.edu	37	8	67576615	67576615	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr8:67576615G>A	ENST00000310421.4	-	1	2837	c.2579C>T	c.(2578-2580)tCt>tTt	p.S860F		NM_025054.4	NP_079330.2	Q96JH7	VCIP1_HUMAN	valosin containing protein (p97)/p47 complex interacting protein 1	860					protein ubiquitination	endoplasmic reticulum|Golgi stack	ubiquitin-specific protease activity			breast(7)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(6)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		Lung NSC(129;0.142)|all_lung(136;0.227)	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)			TGCTGCAGCAGACTGACCACC	0.428000													5	96					0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126371442	126371442	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr4:126371442C>T	ENST00000394329.3	+	9	9284	c.9271C>T	c.(9271-9273)Caa>Taa	p.Q3091*	FAT4_ENST00000335110.5_Nonsense_Mutation_p.Q1389*	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	3091	Cadherin 30.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TGAATTCTCTCAAAGCCACAT	0.458000													7	47					0	0	1	0	0
RREB1	6239	broad.mit.edu	37	6	7229455	7229455	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr6:7229455G>C	ENST00000379938.2	+	10	1660	c.1123G>C	c.(1123-1125)Gtc>Ctc	p.V375L	RREB1_ENST00000349384.6_Missense_Mutation_p.V375L|RREB1_ENST00000334984.6_Missense_Mutation_p.V375L|RREB1_ENST00000379933.3_Missense_Mutation_p.V375L	NM_001003699.3|NM_001003700.1	NP_001003699.1|NP_001003700.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	375					multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				CACCAAAGACGTCAGGCCTGC	0.642000													3	60					0	0	1	0	0
MAGI3	260425	broad.mit.edu	37	1	114226103	114226103	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr1:114226103G>A	ENST00000307546.9	+	21	3988	c.3913G>A	c.(3913-3915)Gag>Aag	p.E1305K	MAGI3_ENST00000369615.1_3'UTR	NM_001142782.1	NP_001136254.1	Q5TCQ9	MAGI3_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 3	1330					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)		ATCAAATGCTGAGGCCAAATT	0.478000													7	94					0	0	1	0	0
TRGC1	6966	broad.mit.edu	37	7	38304969	38304969	+	RNA	SNP	G	G	C			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr7:38304969G>C	ENST00000443402.2	-	0	310					NM_001003799.1|NM_001003806.1	NP_001003799.1|NP_001003806.1																					TTGGAGGAAAGATAATTTCTT	0.348000													4	33					0	0	1	0	0
GATAD2B	57459	broad.mit.edu	37	1	153784519	153784519	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr1:153784519C>T	ENST00000368655.4	-	9	1752	c.1509G>A	c.(1507-1509)atG>atA	p.M503I		NM_020699.2	NP_065750.1	Q8WXI9	P66B_HUMAN	GATA zinc finger domain containing 2B	503						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	38	all_lung(78;1.34e-32)|Lung NSC(65;1.04e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			TATGATGTCTCATGATGGTCT	0.458000													9	155					0	0	1	0	0
VPS37B	79720	broad.mit.edu	37	12	123380553	123380553	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr12:123380553G>C	ENST00000267202.2	-	1	438	c.57C>G	c.(55-57)aaC>aaG	p.N19K		NM_024667.2	NP_078943.1	Q9H9H4	VP37B_HUMAN	vacuolar protein sorting 37 homolog B (S. cerevisiae)	19					cellular membrane organization|endosome transport|protein transport	late endosome membrane				breast(1)|central_nervous_system(1)|large_intestine(1)|skin(1)|urinary_tract(1)	5	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.08e-05)|Epithelial(86;0.000197)|BRCA - Breast invasive adenocarcinoma(302;0.205)		CCAGCAGCTCGTTGAGCTGCA	0.716000													3	47					0	0	1	0	0
UROC1	131669	broad.mit.edu	37	3	126208126	126208126	+	Silent	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr3:126208126G>A	ENST00000290868.2	-	17	1754	c.1701C>T	c.(1699-1701)ttC>ttT	p.F567F	UROC1_ENST00000383579.3_Silent_p.F627F	NM_144639.2	NP_653240.1	Q96N76	HUTU_HUMAN	urocanate hydratase 1	567					histidine catabolic process	cytosol	urocanate hydratase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1)	39				GBM - Glioblastoma multiforme(114;0.17)		CACCTGCACAGAAGGCAGAGC	0.468000													10	145					0	0	1	0	0
HOXB1	3211	broad.mit.edu	37	17	46606964	46606964	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr17:46606964G>A	ENST00000239174.6	-	2	943	c.851C>T	c.(850-852)tCa>tTa	p.S284L	HOXB1_ENST00000577092.1_3'UTR	NM_002144.3	NP_002135.2	P14653	HXB1_HUMAN	homeobox B1	284						nucleus	protein domain specific binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						CGACTGGTCTGAGGCATCTCC	0.637000													6	48					0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141759285	141759285	+	Nonsense_Mutation	SNP	C	C	G	rs146623163	by1000genomes	TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr7:141759285C>G	ENST00000475668.2	+	32	3887	c.3833C>G	c.(3832-3834)tCa>tGa	p.S1278*	MGAM_ENST00000549489.2_Nonsense_Mutation_p.S1278*			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1278	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GTGCAGTACTCAGACATCGAC	0.567000													8	24					0	0	1	0	0
KMT2D	8085	broad.mit.edu	37	12	49444684	49444684	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr12:49444684G>A	ENST00000301067.7	-	10	2781	c.2782C>T	c.(2782-2784)Cag>Tag	p.Q928*		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		GGCATCAGCTGAGGCGACAAG	0.547000													12	71					0	0	1	0	0
UBASH3B	84959	broad.mit.edu	37	11	122647792	122647792	+	Silent	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr11:122647792C>T	ENST00000284273.5	+	3	651	c.276C>T	c.(274-276)ctC>ctT	p.L92L		NM_032873.4	NP_116262.2	Q8TF42	UBS3B_HUMAN	ubiquitin associated and SH3 domain containing B	92						cytoplasm|nucleus	protein tyrosine phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|prostate(1)|skin(2)|stomach(2)	26		Breast(109;0.00254)|Medulloblastoma(222;0.00877)|Lung NSC(97;0.0183)|all_lung(97;0.0186)|all_neural(223;0.0381)|all_hematologic(192;0.104)		BRCA - Breast invasive adenocarcinoma(274;1.37e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0463)		AGTACGTCCTCTACCTCCGTC	0.562000													8	65					0	0	1	0	0
SPEN	23013	broad.mit.edu	37	1	16262633	16262633	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr1:16262633G>T	ENST00000375759.3	+	11	10102	c.9898G>T	c.(9898-9900)Ggg>Tgg	p.G3300W		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	3300	Pro-rich.				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		GCACTCCAGCGGGGAGCTGTT	0.627000													17	162					5.3912e-06	5.74055e-06	1	1	0
TG	7038	broad.mit.edu	37	8	133945805	133945805	+	Splice_Site	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr8:133945805G>A	ENST00000220616.4	+	24	4856		c.e24-1		TG_ENST00000377869.1_Splice_Site|TG_ENST00000542445.1_Splice_Site	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin						hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	p.?(1)		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)		GGTGCTTGCAGATTGCACAGA	0.582000													10	105					0	0	1	0	0
HIST2H2BB	338391	broad.mit.edu	37	1	149399013	149399013	+	RNA	SNP	G	G	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr1:149399013G>T	ENST00000609879.1	-	0	563				HIST2H2BB_ENST00000609585.1_RNA																							GGTCTTGGACGAGATGCCGGT	0.612000													13	262					3.52763e-06	3.76942e-06	1	1	0
PPP2R5E	5529	broad.mit.edu	37	14	63888788	63888788	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr14:63888788G>A	ENST00000337537.3	-	4	981	c.379C>T	c.(379-381)Ctc>Ttc	p.L127F	PPP2R5E_ENST00000422769.2_Missense_Mutation_p.L51F|PPP2R5E_ENST00000555899.1_Missense_Mutation_p.L127F|PPP2R5E_ENST00000553266.1_5'UTR	NM_001282179.1|NM_001282180.1|NM_001282181.1|NM_001282182.1|NM_006246.2	NP_001269108.1|NP_001269109.1|NP_001269110.1|NP_001269111.1|NP_006237.1	Q16537	2A5E_HUMAN	protein phosphatase 2, regulatory subunit B', epsilon isoform	127					signal transduction	cytoplasm|intracellular membrane-bounded organelle|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity	p.L127V(1)		endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)	15				OV - Ovarian serous cystadenocarcinoma(108;0.00197)|all cancers(60;0.0153)|BRCA - Breast invasive adenocarcinoma(234;0.128)		CTAGGAGGGAGAGTTCTGAAT	0.423000													8	72					0	0	1	0	0
SALL4	57167	broad.mit.edu	37	20	50401158	50401158	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr20:50401158C>G	ENST00000217086.4	-	4	2919	c.2808G>C	c.(2806-2808)gaG>gaC	p.E936D	SALL4_ENST00000371539.3_Missense_Mutation_p.E159D|SALL4_ENST00000395997.3_Missense_Mutation_p.E499D	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4	936					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						CCATGGTGTTCTCGATGGCCA	0.493000													8	94					0	0	1	0	0
SIDT2	51092	broad.mit.edu	37	11	117066606	117066606	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr11:117066606C>A	ENST00000324225.4	+	25	2942	c.2411C>A	c.(2410-2412)tCc>tAc	p.S804Y	SIDT2_ENST00000532062.1_Missense_Mutation_p.S96Y|SIDT2_ENST00000431081.2_Missense_Mutation_p.S801Y	NM_001040455.1	NP_001035545.1	Q8NBJ9	SIDT2_HUMAN	SID1 transmembrane family, member 2	804						integral to membrane|lysosomal membrane				NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	36	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000219)|all cancers(92;0.00144)		TTCCTCTCCTCCATCGCCATG	0.612000													17	236					8.34094e-07	8.99165e-07	1	1	0
LRRC37B	114659	broad.mit.edu	37	17	30348952	30348952	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr17:30348952G>C	ENST00000327564.7	+	1	929	c.868G>C	c.(868-870)Gag>Cag	p.E290Q	LRRC37B_ENST00000584368.1_Missense_Mutation_p.E275Q|LRRC37B_ENST00000394713.3_Missense_Mutation_p.E263Q|LRRC37B_ENST00000341671.7_Missense_Mutation_p.E263Q|LRRC37B_ENST00000543378.2_Missense_Mutation_p.E181Q			Q96QE4	LR37B_HUMAN	leucine rich repeat containing 37B	263						integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	29		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244)				ATTCCATCTAGAGCCCAAAAG	0.547000													13	146					0	0	1	0	0
APC	324	broad.mit.edu	37	5	112178932	112178932	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr5:112178932G>A	ENST00000457016.1	+	16	8021	c.7641G>A	c.(7639-7641)tgG>tgA	p.W2547*	CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000257430.4_Nonsense_Mutation_p.W2547*|APC_ENST00000508376.2_Nonsense_Mutation_p.W2547*			P25054	APC_HUMAN	adenomatous polyposis coli	2547	Ser-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		CAGGAACCTGGAAACGTGAGC	0.428000		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)			5	56					0	0	1	0	0
FRMPD3	84443	broad.mit.edu	37	X	106797644	106797644	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chrX:106797644G>A	ENST00000276185.4	+	9	771	c.771G>A	c.(769-771)atG>atA	p.M257I	FRMPD3_ENST00000477796.1_3'UTR			Q5JV73	FRPD3_HUMAN	FERM and PDZ domain containing 3	257	FERM.					cytoskeleton				breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(16)|ovary(2)|urinary_tract(1)	28						ATCATGGAATGAAATGCCTCT	0.507000													3	9					0	0	1	0	0
FRY	10129	broad.mit.edu	37	13	32826017	32826017	+	Silent	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr13:32826017G>A	ENST00000380250.3	+	50	7669	c.7173G>A	c.(7171-7173)aaG>aaA	p.K2391K		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	2391					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		TTTTCCAGAAGAGAACAAAAG	0.403000													10	139					0	0	1	0	0
OR10R2	343406	broad.mit.edu	37	1	158450115	158450115	+	Silent	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr1:158450115C>T	ENST00000368152.1	+	1	448	c.448C>T	c.(448-450)Ctg>Ttg	p.L150L	RP11-144L1.4_ENST00000426251.1_RNA|RP11-144L1.4_ENST00000419738.1_RNA	NM_001004472.1	NP_001004472.1	Q8NGX6	O10R2_HUMAN	olfactory receptor, family 10, subfamily R, member 2	150					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(26)|pancreas(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	41	all_hematologic(112;0.0378)					TTGTCACCCTCTGCATTACCC	0.468000													53	246					0	0	1	0	0
ANXA4	307	broad.mit.edu	37	2	70037783	70037783	+	Missense_Mutation	SNP	G	G	A	rs144937233		TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr2:70037783G>A	ENST00000394295.4	+	7	703	c.455G>A	c.(454-456)cGa>cAa	p.R152Q	ANXA4_ENST00000536030.1_Missense_Mutation_p.R68Q|ANXA4_ENST00000409920.1_Missense_Mutation_p.R130Q	NM_001153.3	NP_001144.1	P09525	ANXA4_HUMAN	annexin A4	150					anti-apoptosis|signal transduction	cytoplasm	calcium ion binding|calcium-dependent phospholipid binding|phospholipase inhibitor activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)	11						ATGTTCCAGCGAGTGCTGGTG	0.473000													7	56					0	0	1	0	0
SLC41A2	84102	broad.mit.edu	37	12	105238268	105238268	+	Silent	SNP	T	T	C			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr12:105238268T>C	ENST00000258538.3	-	9	1645	c.1518A>G	c.(1516-1518)ttA>ttG	p.L506L		NM_032148.3	NP_115524.3	Q96JW4	S41A2_HUMAN	solute carrier family 41 (magnesium transporter), member 2	506						integral to membrane|plasma membrane	magnesium ion transmembrane transporter activity			breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	22						CAGCGCCAAATAAATACACTA	0.318000													14	85					0	0	1	0	0
PKP2	5318	broad.mit.edu	37	12	32974300	32974300	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr12:32974300C>T	ENST00000340811.4	-	9	2111	c.2003G>A	c.(2002-2004)gGa>gAa	p.G668E	PKP2_ENST00000070846.6_Missense_Mutation_p.G712E	NM_001005242.2	NP_001005242.2	Q99959	PKP2_HUMAN	plakophilin 2	712					cell-cell adhesion	desmosome|integral to membrane|nucleus	binding			NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					TGGTCCACTTCCGGCCGTGAG	0.423000													7	40					0	0	1	0	0
HIST1H4H	8365	broad.mit.edu	37	6	26285538	26285538	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr6:26285538C>G	ENST00000289352.1	-	1	224	c.190G>C	c.(190-192)Gag>Cag	p.E64Q	HIST1H4H_ENST00000377727.1_Missense_Mutation_p.E64Q			P62805	H4_HUMAN	histone cluster 1, H4h	64			E -> Q (in a breast cancer sample; somatic mutation).		CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding			lung(2)|ovary(2)|upper_aerodigestive_tract(3)	7						ATCACGTTCTCCAGGAACACC	0.562000										HNSCC(76;0.23)			7	89					0	0	1	0	0
KCTD3	51133	broad.mit.edu	37	1	215768802	215768802	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr1:215768802C>G	ENST00000259154.4	+	10	1216	c.922C>G	c.(922-924)Cag>Gag	p.Q308E		NM_016121.3	NP_057205.2	Q9Y597	KCTD3_HUMAN	potassium channel tetramerization domain containing 3	308						voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			breast(4)|endometrium(2)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)	33				all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13)		TGCTGTCACTCAGCACTGGCA	0.403000													6	64					0	0	1	0	0
TPRG1L	127262	broad.mit.edu	37	1	3542384	3542384	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr1:3542384G>T	ENST00000378344.2	+	3	472	c.401G>T	c.(400-402)cGg>cTg	p.R134L	TPRG1L_ENST00000344579.5_Intron	NM_182752.3	NP_877429.2	Q5T0D9	TPRGL_HUMAN	tumor protein p63 regulated 1-like	134						cell junction|synaptic vesicle				endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|prostate(1)	8	all_cancers(77;0.0119)|all_epithelial(69;0.00481)|Ovarian(185;0.0634)|Lung NSC(156;0.162)|all_lung(157;0.172)	all_epithelial(116;7.37e-22)|all_lung(118;8.23e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.41e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.83e-22)|GBM - Glioblastoma multiforme(42;4.77e-14)|Colorectal(212;1.12e-05)|COAD - Colon adenocarcinoma(227;5.61e-05)|Kidney(185;0.000351)|BRCA - Breast invasive adenocarcinoma(365;0.000688)|KIRC - Kidney renal clear cell carcinoma(229;0.00553)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.201)		CAGGTGGTGCGGATAGCGCTC	0.517000													3	61					1	1	1	1	0
LY75	4065	broad.mit.edu	37	2	160698844	160698844	+	Silent	SNP	G	G	C			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr2:160698844G>C	ENST00000263636.4	-	24	3219	c.3192C>G	c.(3190-3192)ctC>ctG	p.L1064L	LY75_ENST00000554112.1_Silent_p.L1064L|LY75-CD302_ENST00000505052.1_Silent_p.L1064L|LY75_ENST00000553424.1_Silent_p.L1064L|LY75-CD302_ENST00000504764.1_Silent_p.L1064L	NM_002349.3	NP_002340.2			lymphocyte antigen 75											NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	59				COAD - Colon adenocarcinoma(177;0.132)		TTTGGAGGTTGAGTATTAGGG	0.403000													7	47					0	0	1	0	0
TIMELESS	8914	broad.mit.edu	37	12	56822054	56822054	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr12:56822054C>T	ENST00000229201.4	-	13	1695	c.1541G>A	c.(1540-1542)cGa>cAa	p.R514Q	TIMELESS_ENST00000554616.1_Intron|TIMELESS_ENST00000553532.1_Missense_Mutation_p.R515Q	NM_003920.3	NP_003911.2	Q9UNS1	TIM_HUMAN	timeless circadian clock	515					cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent	nuclear chromatin				NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						CCGACAGAATCGCTCCAACAT	0.542000													13	58					0	0	1	0	0
DAP3	7818	broad.mit.edu	37	1	155695260	155695260	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr1:155695260C>G	ENST00000368336.5	+	5	482	c.358C>G	c.(358-360)Cca>Gca	p.P120A	DAP3_ENST00000421487.2_Missense_Mutation_p.P86A|DAP3_ENST00000535183.1_Missense_Mutation_p.P79A|DAP3_ENST00000496863.1_3'UTR|MSTO1_ENST00000538143.1_Intron|DAP3_ENST00000343043.3_Missense_Mutation_p.P120A|MSTO1_ENST00000452804.2_Intron|DAP3_ENST00000471642.2_Missense_Mutation_p.P79A	NM_001199849.1|NM_004632.3	NP_001186778.1|NP_004623.1	P51398	RT29_HUMAN	death associated protein 3	120					induction of apoptosis by extracellular signals	mitochondrial ribosome|nucleolus|small ribosomal subunit	protein binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	24	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)					TTTTGCTTATCCAGCTATACG	0.428000													25	160					0	0	1	0	0
IPO13	9670	broad.mit.edu	37	1	44426671	44426671	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr1:44426671G>C	ENST00000372343.3	+	13	2895	c.2233G>C	c.(2233-2235)Gac>Cac	p.D745H		NM_014652.3	NP_055467.3	O94829	IPO13_HUMAN	importin 13	745					protein import into nucleus	cytoplasm|nucleus	protein binding|protein transporter activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)				CTCTGCTCTTGACCTCACTCG	0.617000													6	60					0	0	1	0	0
NRXN3	9369	broad.mit.edu	37	14	79270147	79270147	+	Silent	SNP	C	C	G			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr14:79270147C>G	ENST00000554719.1	+	6	1601	c.1110C>G	c.(1108-1110)gtC>gtG	p.V370V	NRXN3_ENST00000335750.5_Silent_p.V370V	NM_004796.4	NP_004787.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	148					angiogenesis|cell adhesion	integral to membrane				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)		GGGGGCGTGTCAAGCTCATGG	0.522000													5	42					0	0	1	0	0
MYH7B	57644	broad.mit.edu	37	20	33577919	33577919	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr20:33577919C>G	ENST00000262873.7	+	19	2088	c.1996C>G	c.(1996-1998)Ctc>Gtc	p.L666V		NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	624	Actin-binding (By similarity).|Myosin head-like.					membrane|myosin filament	actin binding|ATP binding|motor activity			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			CCTGGCGACTCTCTATGAGAA	0.552000													11	134					0	0	1	0	0
CUBN	8029	broad.mit.edu	37	10	17107611	17107611	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr10:17107611G>A	ENST00000377833.4	-	22	3100	c.3035C>T	c.(3034-3036)tCt>tTt	p.S1012F		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	1012	CUB 5.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GCTTGTGAGAGATGGCGGGAT	0.403000													19	161					0	0	1	0	0
AKNAD1	254268	broad.mit.edu	37	1	109366068	109366068	+	Silent	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr1:109366068C>T	ENST00000370001.3	-	13	2359	c.2091G>A	c.(2089-2091)caG>caA	p.Q697Q	AKNAD1_ENST00000369995.3_Silent_p.Q697Q|AKNAD1_ENST00000369994.1_Silent_p.Q667Q|AKNAD1_ENST00000357393.4_Silent_p.Q404Q	NM_152763.4	NP_689976.2	Q5T1N1	AKND1_HUMAN	AKNA domain containing 1	697										breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2)	32						TTGAGTAATTCTGTCCTGGAG	0.408000													7	70					0	0	1	0	0
CHL1	10752	broad.mit.edu	37	3	432754	432754	+	Silent	SNP	T	T	C			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr3:432754T>C	ENST00000256509.2	+	22	3345	c.2703T>C	c.(2701-2703)ttT>ttC	p.F901F	CHL1_ENST00000397491.2_Silent_p.F885F	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	O00533	CHL1_HUMAN	cell adhesion molecule L1-like	885	Fibronectin type-III 3.				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix				NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		TAGATGCCTTTAGTGAATTTC	0.383000													13	46					0	0	1	0	0
TSPEAR	54084	broad.mit.edu	37	21	45950980	45950980	+	Silent	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr21:45950980C>T	ENST00000323084.4	-	4	644	c.579G>A	c.(577-579)gtG>gtA	p.V193V	TSPEAR_ENST00000397916.1_Silent_p.V125V	NM_001272037.1|NM_144991.2	NP_001258966.1|NP_659428.2	Q8WU66	TSEAR_HUMAN	thrombospondin-type laminin G domain and EAR repeats	193	TSP N-terminal.				cell adhesion	extracellular region	structural molecule activity			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	37						GAGCTCCTTTCACTGACAGGG	0.567000													4	44					0	0	1	0	0
PTPN3	5774	broad.mit.edu	37	9	112166859	112166859	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr9:112166859C>T	ENST00000412145.1	-	14	3982	c.1429G>A	c.(1429-1431)Gaa>Aaa	p.E477K	PTPN3_ENST00000374541.2_Missense_Mutation_p.E608K|PTPN3_ENST00000262539.3_Missense_Mutation_p.E454K|PTPN3_ENST00000394827.3_Missense_Mutation_p.E76K|PTPN3_ENST00000446349.1_Missense_Mutation_p.E432K	NM_001145369.1|NM_001145371.1	NP_001138841.1|NP_001138843.1	P26045	PTN3_HUMAN	protein tyrosine phosphatase, non-receptor type 3	608					negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle	cytoplasm|cytoskeleton|internal side of plasma membrane	ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						agttcatcttcagacttgaag	0.493000													20	90					0	0	1	0	0
CSPG4	1464	broad.mit.edu	37	15	75968309	75968309	+	Missense_Mutation	SNP	G	G	A	rs139798032	byFrequency	TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr15:75968309G>A	ENST00000308508.5	-	10	6643	c.6551C>T	c.(6550-6552)aCg>aTg	p.T2184M		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	2184	Cysteine-containing.|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						CCCTGCTTCCGTCCGGGCGGC	0.687000													3	13					0	0	1	0	0
RPS6KC1	26750	broad.mit.edu	37	1	213405500	213405500	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr1:213405500G>C	ENST00000366960.3	+	10	1277	c.1127G>C	c.(1126-1128)aGa>aCa	p.R376T	RPS6KC1_ENST00000490299.1_3'UTR|RPS6KC1_ENST00000543354.1_Missense_Mutation_p.R79T|RPS6KC1_ENST00000366959.3_Missense_Mutation_p.R364T|RPS6KC1_ENST00000543470.1_Missense_Mutation_p.R164T	NM_012424.3	NP_036556.2	Q96S38	KS6C1_HUMAN	ribosomal protein S6 kinase, 52kDa, polypeptide 1	376	Protein kinase 1.				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)		AGCAGGAACAGAAAGACCATC	0.488000													10	88					0	0	1	0	0
SMG8	55181	broad.mit.edu	37	17	57289713	57289713	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr17:57289713G>C	ENST00000543872.2	+	3	2035	c.1771G>C	c.(1771-1773)Gag>Cag	p.E591Q	SMG8_ENST00000300917.5_Missense_Mutation_p.E591Q|SMG8_ENST00000580498.1_3'UTR|CTD-2510F5.6_ENST00000577660.1_Intron			Q8ND04	SMG8_HUMAN	SMG8 nonsense mediated mRNA decay factor	591					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of protein kinase activity		protein binding			NS(1)|breast(5)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	33						AGAAAAACCAGAGGCTGATAG	0.408000													6	135					0	0	1	0	0
NALCN	259232	broad.mit.edu	37	13	102029397	102029397	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr13:102029397A>C	ENST00000251127.6	-	5	467	c.386T>G	c.(385-387)aTt>aGt	p.I129S	NALCN_ENST00000470333.1_5'UTR|NALCN_ENST00000376200.5_Missense_Mutation_p.I129S|NALCN_ENST00000376196.3_Missense_Mutation_p.I129S	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	129						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TATATCAGCAATTTCAAACAC	0.403000													5	83					0	0	1	0	0
ITSN2	50618	broad.mit.edu	37	2	24484496	24484496	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr2:24484496G>A	ENST00000355123.4	-	21	2914	c.2471C>T	c.(2470-2472)gCt>gTt	p.A824V	ITSN2_ENST00000361999.3_Missense_Mutation_p.A797V|ITSN2_ENST00000406921.3_Missense_Mutation_p.A824V	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	824				KAVSPK -> FAAAST (in Ref. 6; AAD00899).	endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGGAGATACAGCTTTTTCATT	0.363000													8	66					0	0	1	0	0
PLA2G4B	100137049	broad.mit.edu	37	15	42134022	42134022	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr15:42134022G>A	ENST00000542534.2	+	13	1229	c.1189G>A	c.(1189-1191)Gag>Aag	p.E397K	JMJD7-PLA2G4B_ENST00000342159.4_Missense_Mutation_p.E397K|JMJD7-PLA2G4B_ENST00000382448.4_Missense_Mutation_p.E397K|PLA2G4B_ENST00000452633.1_Missense_Mutation_p.E166K|PLA2G4B_ENST00000458483.1_Missense_Mutation_p.E166K	NM_005090.3	NP_005081.1			phospholipase A2, group IVB (cytosolic)														all_cancers(109;1.84e-13)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		all cancers(2;1.08e-30)|Epithelial(2;1.43e-22)|OV - Ovarian serous cystadenocarcinoma(18;1.13e-17)|GBM - Glioblastoma multiforme(94;9.77e-07)|Colorectal(2;0.0129)|COAD - Colon adenocarcinoma(120;0.0371)		TCCAGCCTCAGAGCACAGAGT	0.637000													5	19					0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	34015011	34015011	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr15:34015011G>A	ENST00000389232.4	+	44	6785	c.6715G>A	c.(6715-6717)Ggg>Agg	p.G2239R	RYR3_ENST00000415757.3_Missense_Mutation_p.G2239R	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	2239	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.G2239W(1)		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)		GGGGGGAAACGGGCTCTTGGC	0.572000													23	117					0	0	1	0	0
ARHGEF35	445328	broad.mit.edu	37	7	143884376	143884376	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr7:143884376T>G	ENST00000378115.2	-	2	1230	c.1101A>C	c.(1099-1101)aaA>aaC	p.K367N	ARHGEF35_ENST00000543357.1_Missense_Mutation_p.K367N	NM_001003702.2	NP_001003702.2	A5YM69	ARG35_HUMAN	Rho guanine nucleotide exchange factor (GEF) 35	367	Glu-rich.									kidney(1)|large_intestine(1)|lung(3)|stomach(1)	6						CTGGGACCCCTTTCTCCTTTA	0.537000													4	32					0	0	1	0	0
CPNE6	9362	broad.mit.edu	37	14	24546495	24546495	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr14:24546495G>T	ENST00000397016.2	+	16	1743	c.1432G>T	c.(1432-1434)Gac>Tac	p.D478Y	CPNE6_ENST00000216775.2_Missense_Mutation_p.D478Y|CPNE6_ENST00000537691.1_Missense_Mutation_p.D533Y	NM_001280558.1	NP_001267487.1	O95741	CPNE6_HUMAN	copine VI (neuronal)	478	VWFA.				lipid metabolic process|nervous system development|synaptic transmission|vesicle-mediated transport		calcium ion binding|transporter activity			endometrium(4)|large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	22				GBM - Glioblastoma multiforme(265;0.0184)		TGACTTCTCTGACATGCGGCT	0.627000													8	80					0.361761	0.363555	1	1	0
KNDC1	85442	broad.mit.edu	37	10	134981812	134981812	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr10:134981812T>C	ENST00000304613.3	+	3	377	c.356T>C	c.(355-357)tTt>tCt	p.F119S	KNDC1_ENST00000368571.2_Missense_Mutation_p.F54S|KNDC1_ENST00000368572.2_Missense_Mutation_p.F119S|KNDC1_ENST00000530127.1_3'UTR			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	119	KIND 1.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction					NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		GGGAACACCTTTGAGGTAAGT	0.582000													10	73					0	0	1	0	0
UBXN2B	137886	broad.mit.edu	37	8	59345738	59345738	+	Missense_Mutation	SNP	A	A	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr8:59345738A>T	ENST00000399598.2	+	4	481	c.359A>T	c.(358-360)tAc>tTc	p.Y120F	UBXN2B_ENST00000522978.1_3'UTR	NM_001077619.1	NP_001071087.1	Q14CS0	UBX2B_HUMAN	UBX domain protein 2B	120						cytosol|endoplasmic reticulum|Golgi apparatus|nucleus				endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	13						GGTGGAGGATACAGATTGGGT	0.289000													15	242					0	0	1	0	0
MED12L	116931	broad.mit.edu	37	3	150906195	150906195	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr3:150906195C>T	ENST00000474524.1	+	12	1719	c.1681C>T	c.(1681-1683)Ctt>Ttt	p.L561F	MED12L_ENST00000273432.4_Missense_Mutation_p.L421F|MED12L_ENST00000309237.4_Missense_Mutation_p.L561F|MED12L_ENST00000422248.2_Missense_Mutation_p.L561F	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	561					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TTCATCCTCTCTTGCTGGATC	0.373000													5	66					0	0	1	0	0
SEL1L3	23231	broad.mit.edu	37	4	25849234	25849234	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr4:25849234G>A	ENST00000399878.3	-	2	537	c.415C>T	c.(415-417)Cac>Tac	p.H139Y	SEL1L3_ENST00000264868.5_Missense_Mutation_p.H104Y|SEL1L3_ENST00000502949.1_5'UTR|SEL1L3_ENST00000513364.1_Intron	NM_015187.3	NP_056002.2	Q68CR1	SE1L3_HUMAN	sel-1 suppressor of lin-12-like 3 (C. elegans)	139						integral to membrane	binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						CTGCTGGTGTGAAGATGTTTC	0.388000													5	41					0	0	1	0	0
IRF2BP1	26145	broad.mit.edu	37	19	46387392	46387392	+	Silent	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr19:46387392C>T	ENST00000302165.3	-	1	1984	c.1641G>A	c.(1639-1641)ccG>ccA	p.P547P		NM_015649.1	NP_056464.1	Q8IU81	I2BP1_HUMAN	interferon regulatory factor 2 binding protein 1	547	Cys-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				cervix(1)|kidney(1)|lung(2)	4		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00442)|GBM - Glioblastoma multiforme(486;0.0402)|Epithelial(262;0.231)		TGTCTCCGCTCGGGCAGTACA	0.637000													4	37					0	0	1	0	0
SLC12A7	10723	broad.mit.edu	37	5	1076861	1076861	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr5:1076861C>T	ENST00000264930.5	-	13	1739	c.1696G>A	c.(1696-1698)Gag>Aag	p.E566K		NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 7	566					potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	ATGCCAGTCTCGCAGATGAGG	0.652000													6	77					0	0	1	0	0
KCNQ5	56479	broad.mit.edu	37	6	73787121	73787121	+	Silent	SNP	C	C	G			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr6:73787121C>G	ENST00000342056.2	+	4	1091	c.693C>G	c.(691-693)ctC>ctG	p.L231L	KCNQ5_ENST00000370398.1_Silent_p.L231L|KCNQ5_ENST00000402622.2_Silent_p.L231L|KCNQ5_ENST00000403813.2_Silent_p.L231L|KCNQ5_ENST00000355635.3_Silent_p.L231L|KCNQ5_ENST00000355194.4_Silent_p.L231L|KCNQ5_ENST00000370392.1_Silent_p.L231L|KCNQ5_ENST00000414165.2_Silent_p.L231L	NM_001160132.1|NM_001160133.1	NP_001153604.1|NP_001153605.1	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 5	231					protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)		CGTCTGCACTCAGAAGTCTCC	0.463000													7	61					0	0	1	0	0
MLLT6	4302	broad.mit.edu	37	17	36877001	36877001	+	Splice_Site	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr17:36877001G>A	ENST00000325718.7	+	16	2533		c.e16+1			NM_005937.3	NP_005928	P55198	AF17_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6						regulation of transcription, DNA-dependent	nucleus	protein binding|zinc ion binding			breast(3)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8	Breast(7;4.43e-21)					TTCTTCTGAGGTGGGCGCTAC	0.632000			T	MLL	AL								5	38					0	0	1	0	0
ANKRD30B	374860	broad.mit.edu	37	18	14850274	14850274	+	Nonsense_Mutation	SNP	A	A	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr18:14850274A>T	ENST00000358984.4	+	35	3280	c.3100A>T	c.(3100-3102)Aga>Tga	p.R1034*		NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	1119										breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						AGAAAAAATTAGACCCGAAGA	0.279000													6	16					0	0	1	0	0
TAOK2	9344	broad.mit.edu	37	16	30002499	30002499	+	Silent	SNP	G	G	A	rs138517482		TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr16:30002499G>A	ENST00000279394.3	+	19	3163	c.2760G>A	c.(2758-2760)ctG>ctA	p.L920L		NM_004783.3	NP_004774.1	Q9UL54	TAOK2_HUMAN	TAO kinase 2	809					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						GCATGGCTCTGGGGGGCATCC	0.677000													12	102					0	0	1	0	0
ASAH1	427	broad.mit.edu	37	8	17928835	17928835	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr8:17928835C>T	ENST00000262097.6	-	3	501	c.190G>A	c.(190-192)Gaa>Aaa	p.E64K	ASAH1_ENST00000417108.2_5'UTR|ASAH1_ENST00000381733.4_Missense_Mutation_p.E80K|ASAH1_ENST00000520781.1_Missense_Mutation_p.E64K|ASAH1_ENST00000520051.1_5'UTR|ASAH1_ENST00000314146.10_Missense_Mutation_p.E87K	NM_177924.3	NP_808592.2	Q13510	ASAH1_HUMAN	N-acylsphingosine amidohydrolase (acid ceramidase) 1	64					ceramide metabolic process	lysosome	ceramidase activity			breast(1)|endometrium(2)|large_intestine(4)|lung(2)	9				Colorectal(111;0.0646)|COAD - Colon adenocarcinoma(73;0.228)		AGCATCAATTCATGCCATCTT	0.313000													4	22					0	0	1	0	0
PMF1	11243	broad.mit.edu	37	1	156182917	156182917	+	Silent	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr1:156182917C>T	ENST00000368277.3	+	1	120	c.111C>T	c.(109-111)ctC>ctT	p.L37L	PMF1-BGLAP_ENST00000490491.1_Silent_p.L37L|PMF1_ENST00000565805.1_Silent_p.L37L|PMF1_ENST00000567140.1_Silent_p.L37L|PMF1-BGLAP_ENST00000368276.4_Silent_p.L37L|PMF1_ENST00000368279.3_Silent_p.L37L|PMF1-BGLAP_ENST00000320139.5_Silent_p.L37L|PMF1_ENST00000368273.4_Silent_p.L37L	NM_007221.3	NP_009152.2			polyamine-modulated factor 1											kidney(1)|large_intestine(2)|lung(3)	6	Hepatocellular(266;0.158)					GGGTGAAGCTCCTCGACACCA	0.577000													5	52					0	0	1	0	0
ACO2	50	broad.mit.edu	37	22	41911842	41911842	+	Silent	SNP	A	A	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr22:41911842A>T	ENST00000396512.3	+	6	773	c.756A>T	c.(754-756)gcA>gcT	p.A252A	ACO2_ENST00000216254.4_Silent_p.A252A|ACO2_ENST00000466237.1_3'UTR			Q99798	ACON_HUMAN	aconitase 2, mitochondrial	252					citrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleus	4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron ion binding|isocitrate hydro-lyase (cis-aconitate-forming) activity			breast(3)|endometrium(5)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	23						TGAAGGTGGCAGGCATCCTCA	0.612000													9	72					0	0	1	0	0
DNAAF3	352909	broad.mit.edu	37	19	55672075	55672075	+	Silent	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr19:55672075C>T	ENST00000527223.2	-	9	1186	c.1185G>A	c.(1183-1185)gcG>gcA	p.A395A	DNAAF3_ENST00000391720.4_Silent_p.A374A|DNAAF3_ENST00000524407.2_Silent_p.A327A|CTD-2587H24.5_ENST00000591665.1_RNA|DNAAF3_ENST00000455045.1_Silent_p.A273A	NM_001256714.1	NP_001243643	Q8N9W5	CS051_HUMAN	dynein, axonemal, assembly factor 3	327																	CGGTGGCTCTCGCGCGCCCCC	0.682000											OREG0025678	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	61					0	0	1	0	0
CBX8	57332	broad.mit.edu	37	17	77768460	77768460	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr17:77768460G>A	ENST00000269385.4	-	5	1261	c.1144C>T	c.(1144-1146)Caa>Taa	p.Q382*		NM_020649.2	NP_065700.1	Q9HC52	CBX8_HUMAN	chromobox homolog 8	382					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear chromatin|PcG protein complex	methylated histone residue binding	p.D381fs*>5(1)		breast(1)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)	14			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			AAAAAGCCTTGGTCCGTGTTA	0.498000													13	212					0	0	1	0	0
CASP10	843	broad.mit.edu	37	2	202073797	202073797	+	Silent	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr2:202073797C>T	ENST00000286186.6	+	9	1362	c.927C>T	c.(925-927)atC>atT	p.I309I	CASP10_ENST00000346817.5_Silent_p.I266I|CASP10_ENST00000448480.1_Silent_p.I266I|CASP10_ENST00000313728.7_Silent_p.I242I|CASP10_ENST00000360132.3_3'UTR|CASP10_ENST00000492363.1_3'UTR|CASP10_ENST00000272879.5_Silent_p.I309I	NM_032977.3	NP_116759.2	Q92851	CASPA_HUMAN	caspase 10, apoptosis-related cysteine peptidase	309					apoptosis|induction of apoptosis by extracellular signals|proteolysis	cytosol|plasma membrane	cysteine-type endopeptidase activity|identical protein binding|protein binding			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	27						AAACAGAGATCCTGAGTCATG	0.378000													6	42					0	0	1	0	0
NUDCD1	84955	broad.mit.edu	37	8	110255327	110255327	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr8:110255327G>A	ENST00000239690.4	-	10	2037	c.1663C>T	c.(1663-1665)Cct>Tct	p.P555S	NUDCD1_ENST00000427660.2_Missense_Mutation_p.P526S	NM_032869.3	NP_116258.2	Q96RS6	NUDC1_HUMAN	NudC domain containing 1	555										breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(2)|skin(1)	25	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;1.56e-12)			CCTAAAATAGGATCATTGGTT	0.368000													32	212					0	0	1	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144871824	144871824	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr1:144871824G>A	ENST00000369359.4	-	35	5584	c.5546C>T	c.(5545-5547)tCa>tTa	p.S1849L	PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000313382.9_Intron|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.S1713L|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.S1713L|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.S1798L			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1713					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	p.S1713L(2)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		GGATGGAGCTGAGGGCAATGG	0.532000			T	PDGFRB	MPD								6	114					0	0	1	0	0
ATP6V0B	533	broad.mit.edu	37	1	44442265	44442265	+	Silent	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr1:44442265C>T	ENST00000532642.1	+	5	379	c.282C>T	c.(280-282)atC>atT	p.I94I	ATP6V0B_ENST00000472277.1_Intron|ATP6V0B_ENST00000498664.1_Silent_p.I47I|ATP6V0B_ENST00000472174.2_Silent_p.I94I|ATP6V0B_ENST00000236067.4_Silent_p.I47I|ATP6V0B_ENST00000471859.2_Silent_p.I141I			Q99437	VATO_HUMAN	ATPase, H+ transporting, lysosomal 21kDa, V0 subunit b	94					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	endosome membrane|integral to membrane|proton-transporting V-type ATPase, V0 domain|vacuolar membrane	hydrogen ion transmembrane transporter activity			breast(2)|kidney(1)|large_intestine(3)|lung(3)	9	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)				CTACCAGCATCATCTTCTGTG	0.502000													8	88					0	0	1	0	0
FAM24A	118670	broad.mit.edu	37	10	124671218	124671218	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr10:124671218C>T	ENST00000368894.1	+	2	189	c.68C>T	c.(67-69)gCg>gTg	p.A23V		NM_001029888.1	NP_001025059.1	A6NFZ4	FA24A_HUMAN	family with sequence similarity 24, member A	23						extracellular region				large_intestine(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	9		all_neural(114;0.169)|Glioma(114;0.222)		Colorectal(40;0.124)|COAD - Colon adenocarcinoma(40;0.141)		CTGGTTGCCGCGATGGTGCTC	0.473000													51	284					0	0	1	0	0
FAM65A	79567	broad.mit.edu	37	16	67575769	67575769	+	Splice_Site	SNP	G	G	C			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr16:67575769G>C	ENST00000540839.3	+	14	1360		c.e14-1		FAM65A_ENST00000428437.2_Splice_Site|FAM65A_ENST00000042381.4_Splice_Site|FAM65A_ENST00000422602.2_Splice_Site|FAM65A_ENST00000379312.3_Splice_Site			Q6ZS17	FA65A_HUMAN	family with sequence similarity 65, member A							cytoplasm	binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)		CTCTTTCTCAGAACATGCTGC	0.577000													4	57					0	0	1	0	0
USP2	9099	broad.mit.edu	37	11	119228516	119228516	+	Silent	SNP	C	C	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr11:119228516C>A	ENST00000260187.2	-	10	1746	c.1452G>T	c.(1450-1452)cgG>cgT	p.R484R	USP2_ENST00000455332.2_Silent_p.R241R|USP2_ENST00000525735.1_Silent_p.R275R	NM_004205.4	NP_004196.4	O75604	UBP2_HUMAN	ubiquitin specific peptidase 2	484	Necessary for interaction with MDM4.				cell cycle|muscle organ development|negative regulation of transcription from RNA polymerase II promoter|positive regulation of mitotic cell cycle|protein deubiquitination|protein stabilization|ubiquitin-dependent protein catabolic process	nucleus|perinuclear region of cytoplasm	cyclin binding|cysteine-type endopeptidase activity|metal ion binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	24		all_hematologic(192;4.65e-05)|Breast(348;0.0101)|all_neural(223;0.0218)|Medulloblastoma(222;0.0425)|Renal(330;0.157)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.000513)|Colorectal(284;0.0116)|Lung(307;0.0853)|LUSC - Lung squamous cell carcinoma(976;0.0889)		TCTTTATACACCGTTTTCTGC	0.498000													30	309					3.11337e-16	3.44169e-16	1	1	0
FAM135B	51059	broad.mit.edu	37	8	139158273	139158273	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr8:139158273G>T	ENST00000395297.1	-	15	3639	c.3469C>A	c.(3469-3471)Ctg>Atg	p.L1157M		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	1157										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)			GTCTTTACCAGCCGGAGGTCT	0.433000										HNSCC(54;0.14)			12	51					0.00010058	0.000105254	1	1	0
TMTC2	160335	broad.mit.edu	37	12	83455601	83455601	+	Silent	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr12:83455601G>A	ENST00000549919.1	+	12	4109	c.2304G>A	c.(2302-2304)ctG>ctA	p.L768L	TMTC2_ENST00000321196.3_Silent_p.L774L			Q8N394	TMTC2_HUMAN	transmembrane and tetratricopeptide repeat containing 2	774						endoplasmic reticulum|integral to membrane	binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1)	39						CAGCCAGGCTGAGGCCTAATG	0.353000													11	121					0	0	1	0	0
OR5AN1	390195	broad.mit.edu	37	11	59132579	59132579	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr11:59132579G>C	ENST00000313940.2	+	1	695	c.648G>C	c.(646-648)atG>atC	p.M216I		NM_001004729.1	NP_001004729.1	Q8NGI8	O5AN1_HUMAN	olfactory receptor, family 5, subfamily AN, member 1	216					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	21						TAGTTATCATGATATCCTATG	0.418000													11	139					0	0	1	0	0
UAP1	6675	broad.mit.edu	37	1	162549315	162549315	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr1:162549315C>T	ENST00000271469.3	+	4	885	c.583C>T	c.(583-585)Cag>Tag	p.Q195*	UAP1_ENST00000367924.1_Nonsense_Mutation_p.Q195*|UAP1_ENST00000367926.4_Nonsense_Mutation_p.Q195*|UAP1_ENST00000367925.1_Nonsense_Mutation_p.Q195*			Q16222	UAP1_HUMAN	UDP-N-acteylglucosamine pyrophosphorylase 1	195					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol|nucleus|plasma membrane	UDP-N-acetylglucosamine diphosphorylase activity			breast(2)|cervix(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(2)|skin(2)|stomach(1)	22	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.126)			AATCTTTTTTCAGCAAGGAAT	0.358000													9	68					0	0	1	0	0
KIAA1430	57587	broad.mit.edu	37	4	186111383	186111383	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr4:186111383G>A	ENST00000458385.2	-	2	1087	c.968C>T	c.(967-969)tCg>tTg	p.S323L	KIAA1430_ENST00000296775.6_Missense_Mutation_p.S323L|KIAA1430_ENST00000514798.1_Missense_Mutation_p.S323L	NM_020827.1	NP_065878.1	Q9P2B7	K1430_HUMAN	KIAA1430	323										endometrium(3)|kidney(2)|large_intestine(5)|upper_aerodigestive_tract(1)	11		all_lung(41;1.19e-13)|Lung NSC(41;3.16e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00872)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		all cancers(43;9.44e-26)|Epithelial(43;2.64e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.66e-11)|Colorectal(24;6.03e-05)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.000331)|COAD - Colon adenocarcinoma(29;0.000427)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00924)|READ - Rectum adenocarcinoma(43;0.165)		CACTGAAGACGACTTTGAGGA	0.338000													4	25					0	0	1	0	0
SLFN5	162394	broad.mit.edu	37	17	33591520	33591520	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr17:33591520G>C	ENST00000299977.4	+	4	1605	c.1457G>C	c.(1456-1458)gGg>gCg	p.G486A	SLFN5_ENST00000542451.1_Intron	NM_144975.3	NP_659412.3	Q08AF3	SLFN5_HUMAN	schlafen family member 5	486					cell differentiation		ATP binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(8)|liver(2)|lung(6)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	34		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0191)		GGCTACACTGGGAGGTTATGC	0.453000													8	61					0	0	1	0	0
ABCB5	340273	broad.mit.edu	37	7	20685503	20685503	+	Splice_Site	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr7:20685503G>A	ENST00000404938.2	+	8	1455	c.803G>A	c.(802-804)aGg>aAg	p.R268K		NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	454	ABC transmembrane type-1.				regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						GAACTTCAAAGGTCTTTCCTT	0.398000													13	87					0	0	1	0	0
AKR1D1	6718	broad.mit.edu	37	7	137782615	137782615	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr7:137782615G>A	ENST00000242375.3	+	4	424	c.382G>A	c.(382-384)Gga>Aga	p.G128R	AKR1D1_ENST00000432161.1_Missense_Mutation_p.G128R|AKR1D1_ENST00000411726.2_Missense_Mutation_p.G128R|AKR1D1_ENST00000468877.2_3'UTR	NM_005989.3	NP_005980.1	P51857	AK1D1_HUMAN	aldo-keto reductase family 1, member D1	128					androgen metabolic process|bile acid biosynthetic process|bile acid catabolic process|C21-steroid hormone metabolic process|cholesterol catabolic process|digestion	cytosol	aldo-keto reductase (NADP) activity|delta4-3-oxosteroid 5beta-reductase activity|steroid binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	23						ttttCAGCCAGGAGATGAAAT	0.308000													25	74					0	0	1	0	0
NT5DC3	51559	broad.mit.edu	37	12	104182660	104182660	+	Missense_Mutation	SNP	A	A	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr12:104182660A>T	ENST00000392876.3	-	10	1097	c.1057T>A	c.(1057-1059)Tgg>Agg	p.W353R		NM_001031701.2	NP_001026871.1	Q86UY8	NT5D3_HUMAN	5'-nucleotidase domain containing 3	353							hydrolase activity|metal ion binding			NS(1)|breast(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(15)|ovary(2)|skin(1)|stomach(2)	30						ATTTTATCCCAGAGTAAGACA	0.403000													35	196					0	0	1	0	0
HUWE1	10075	broad.mit.edu	37	X	53578272	53578272	+	Silent	SNP	C	C	G			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chrX:53578272C>G	ENST00000342160.3	-	63	9508	c.9051G>C	c.(9049-9051)gtG>gtC	p.V3017V	HUWE1_ENST00000262854.6_Silent_p.V3017V			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	3017					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						ACTCAGGGCTCACTTCAGTCA	0.597000													4	9					0	0	1	0	0
ADAM22	53616	broad.mit.edu	37	7	87757941	87757941	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr7:87757941G>C	ENST00000398204.4	+	9	1026	c.703G>C	c.(703-705)Gaa>Caa	p.E235Q	ADAM22_ENST00000398201.4_Missense_Mutation_p.E235Q|ADAM22_ENST00000265727.7_Missense_Mutation_p.E235Q|ADAM22_ENST00000315984.7_Missense_Mutation_p.E235Q|ADAM22_ENST00000398209.3_Missense_Mutation_p.E235Q|ADAM22_ENST00000439864.1_Missense_Mutation_p.E235Q	NM_016351.4|NM_021723.3	NP_057435.2|NP_068369.1	Q9P0K1	ADA22_HUMAN	ADAM metallopeptidase domain 22	235					cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis	integral to membrane	integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding			endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3)	53	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)			TCGTAATGTAGAAGAAGAAAC	0.393000													9	133					0	0	1	0	0
C1orf131	128061	broad.mit.edu	37	1	231364906	231364906	+	Missense_Mutation	SNP	T	T	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr1:231364906T>A	ENST00000318906.2	-	3	528	c.500A>T	c.(499-501)aAc>aTc	p.N167I	C1orf131_ENST00000366649.2_Missense_Mutation_p.N167I|C1orf131_ENST00000366651.3_Missense_Mutation_p.N166I			Q8NDD1	CA131_HUMAN	chromosome 1 open reading frame 131	167										breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)	8	Breast(184;0.0871)	all_cancers(173;0.2)|Prostate(94;0.183)				TTTTTCTAGGTTAAATTCTTG	0.229000													3	38					0	0	1	0	0
IL36B	27177	broad.mit.edu	37	2	113783751	113783751	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr2:113783751T>C	ENST00000259213.4	-	5	427	c.320A>G	c.(319-321)cAc>cGc	p.H107R		NM_014438.3	NP_055253.2	Q9NZH7	IL36B_HUMAN	interleukin 36, beta	107					immune response	extracellular space	cytokine activity|interleukin-1 receptor binding			kidney(1)|ovary(1)|pancreas(1)	3						tatgcatgtgtgaattccaac	0.458000													9	67					0	0	1	0	0
ANKS1B	56899	broad.mit.edu	37	12	99640173	99640173	+	Silent	SNP	G	G	C			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr12:99640173G>C	ENST00000547776.2	-	13	2225	c.2226C>G	c.(2224-2226)ctC>ctG	p.L742L	ANKS1B_ENST00000329257.7_Silent_p.L742L|ANKS1B_ENST00000547010.1_Silent_p.L322L	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B	742						Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		GATAGGCAATGAGATCAGAAT	0.413000													11	45					0	0	1	0	0
TNNI1	7135	broad.mit.edu	37	1	201383732	201383732	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr1:201383732C>T	ENST00000361379.4	-	5	195	c.103G>A	c.(103-105)Gag>Aag	p.E35K	TNNI1_ENST00000367312.1_Missense_Mutation_p.E35K|TNNI1_ENST00000336092.4_Missense_Mutation_p.E35K|TNNI1_ENST00000555948.1_Missense_Mutation_p.E35K	NM_003281.3	NP_003272.3	P19237	TNNI1_HUMAN	troponin I type 1 (skeletal, slow)	35	Involved in binding TNC.				muscle filament sliding|regulation of striated muscle contraction	cytosol|troponin complex	actin binding|tropomyosin binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|skin(1)	8						TCGCGCTCCTCGTGCTCCTGC	0.662000													6	46					0	0	1	0	0
ELFN2	114794	broad.mit.edu	37	22	37771107	37771107	+	Silent	SNP	G	G	A	rs150477054		TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr22:37771107G>A	ENST00000402918.2	-	3	1253	c.468C>T	c.(466-468)atC>atT	p.I156I	RP1-63G5.5_ENST00000430883.1_RNA	NM_052906.3	NP_443138.2	Q5R3F8	LRFN6_HUMAN	extracellular leucine-rich repeat and fibronectin type III domain containing 2							cell surface|integral to membrane				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	35	Melanoma(58;0.0574)					AGGACAGGTCGATGCTGATGA	0.642000													7	86					0	0	1	0	0
SERPINA7	6906	broad.mit.edu	37	X	105281023	105281023	+	Silent	SNP	G	G	C			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chrX:105281023G>C	ENST00000327674.4	-	1	362	c.27C>G	c.(25-27)ctC>ctG	p.L9L	SERPINA7_ENST00000372563.1_Silent_p.L9L			P05543	THBG_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7	9					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|skin(3)	24					Levothyroxine(DB00451)|Liothyronine(DB00279)	CAAGTACCAAGAGAACCAGAT	0.448000													12	38					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13735275	13735275	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr5:13735275C>T	ENST00000265104.4	-	68	11830	c.11726G>A	c.(11725-11727)cGa>cAa	p.R3909Q		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3909					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					ATGCTTGACTCGGTTCCTCTG	0.438000									Kartagener syndrome				8	110					0	0	1	0	0
ZNF568	374900	broad.mit.edu	37	19	37441804	37441804	+	Silent	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr19:37441804G>A	ENST00000415168.1	+	5	1933	c.1557G>A	c.(1555-1557)gaG>gaA	p.E519E	ZNF568_ENST00000427117.1_Intron|ZNF568_ENST00000333987.7_Silent_p.E583E|ZNF568_ENST00000455427.2_Intron	NM_001204837.1	NP_001191766.1	Q3ZCX4	ZN568_HUMAN	zinc finger protein 568	583					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(9)|ovary(1)	29	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			ACACAGGGGAGAAACCCTATG	0.378000													5	93					0	0	1	0	0
INTS3	65123	broad.mit.edu	37	1	153701122	153701122	+	Silent	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr1:153701122G>A	ENST00000318967.2	+	1	580	c.12G>A	c.(10-12)caG>caA	p.Q4Q	INTS3_ENST00000435409.2_Silent_p.Q4Q|INTS3_ENST00000456435.1_5'UTR	NM_023015.3	NP_075391.3	Q68E01	INT3_HUMAN	integrator complex subunit 3	4					DNA repair|G2/M transition checkpoint|response to ionizing radiation|snRNA processing	integrator complex|SOSS complex	protein binding			breast(1)|cervix(4)|endometrium(10)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	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)			TGGAGTTGCAGAAGGGAAAAG	0.647000													8	68					0	0	1	0	0
ENTHD1	150350	broad.mit.edu	37	22	40139965	40139965	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr22:40139965C>T	ENST00000325157.6	-	7	1793	c.1543G>A	c.(1543-1545)Gag>Aag	p.E515K		NM_152512.3	NP_689725.2	Q8IYW4	ENTD1_HUMAN	ENTH domain containing 1	515										breast(2)|endometrium(1)|kidney(6)|large_intestine(6)|lung(11)|ovary(3)|skin(3)	32	Melanoma(58;0.0749)					GTGGAAAACTCCCCCCAGTGA	0.413000													4	38					0	0	1	0	0
CNOT1	23019	broad.mit.edu	37	16	58576138	58576138	+	Silent	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr16:58576138C>T	ENST00000317147.5	-	33	5009	c.4677G>A	c.(4675-4677)ctG>ctA	p.L1559L	CNOT1_ENST00000245138.4_Silent_p.L410L|CNOT1_ENST00000569240.1_Silent_p.L1554L	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	1559					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		TTCTCACTTTCAGCCTGATTT	0.418000													7	43					0	0	1	0	0
PUF60	22827	broad.mit.edu	37	8	144899273	144899273	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr8:144899273G>A	ENST00000526683.1	-	11	1742	c.1187C>T	c.(1186-1188)tCg>tTg	p.S396L	PUF60_ENST00000313352.7_Missense_Mutation_p.S336L|PUF60_ENST00000456095.2_Missense_Mutation_p.S367L|PUF60_ENST00000453551.2_Missense_Mutation_p.S353L|PUF60_ENST00000349157.6_Missense_Mutation_p.S379L|PUF60_ENST00000524570.1_5'UTR|PUF60_ENST00000527197.1_Missense_Mutation_p.S350L	NM_001271098.1|NM_078480.2	NP_001258027.1|NP_510965.1	Q9UHX1	PUF60_HUMAN	poly-U binding splicing factor 60KDa	396	Inhibits homodimerization.|Inhibits transcriptional repression, interaction with ERCC3 and apoptosis induction.				apoptosis|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	nucleus|ribonucleoprotein complex	DNA binding|nucleotide binding|protein binding|RNA binding			NS(1)|endometrium(1)|kidney(3)|lung(7)|prostate(2)	14	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;6.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			CACTCCCACCGAGGGGATGGT	0.612000													3	17					0	0	1	0	0
MAN1A2	10905	broad.mit.edu	37	1	118039474	118039474	+	Silent	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr1:118039474G>A	ENST00000356554.3	+	10	2109	c.1374G>A	c.(1372-1374)ggG>ggA	p.G458G		NM_006699.3	NP_006690.1	O60476	MA1A2_HUMAN	mannosidase, alpha, class 1A, member 2	458					N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane|membrane fraction	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	27	Lung SC(450;0.225)	all_cancers(81;7.9e-06)|all_epithelial(167;7.39e-07)|all_lung(203;2.84e-06)|Lung NSC(69;1.99e-05)		Lung(183;0.0688)|Kidney(133;0.114)|LUSC - Lung squamous cell carcinoma(189;0.223)|KIRC - Kidney renal clear cell carcinoma(1967;0.237)|Colorectal(144;0.243)		AAAAGATGGGGCATTTGGCCT	0.438000													15	118					0	0	1	0	0
TPD52L2	7165	broad.mit.edu	37	20	62500783	62500783	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr20:62500783G>C	ENST00000217121.5	+	2	226	c.154G>C	c.(154-156)Gag>Cag	p.E52Q	TPD52L2_ENST00000348257.5_Missense_Mutation_p.E52Q|TPD52L2_ENST00000352482.4_Missense_Mutation_p.E52Q|TPD52L2_ENST00000351424.4_Missense_Mutation_p.E52Q|TPD52L2_ENST00000358548.4_Missense_Mutation_p.E52Q|TPD52L2_ENST00000369927.4_Missense_Mutation_p.E29Q|TPD52L2_ENST00000346249.4_Missense_Mutation_p.E52Q	NM_199360.2	NP_955392.1	O43399	TPD54_HUMAN	tumor protein D52-like 2	52					regulation of cell proliferation	perinuclear region of cytoplasm	protein binding|protein homodimerization activity			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8	all_cancers(38;1.3e-12)|all_epithelial(29;2.23e-14)|Lung NSC(23;5.92e-10)|all_lung(23;2.08e-09)					GCTCAGGGCTGAGCTTACCAA	0.597000													6	78					0	0	1	0	0
TEKT3	64518	broad.mit.edu	37	17	15234758	15234758	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr17:15234758G>A	ENST00000395930.1	-	3	331	c.145C>T	c.(145-147)Cct>Tct	p.P49S	TEKT3_ENST00000338696.2_Missense_Mutation_p.P49S	NM_031898.2	NP_114104.1	Q9BXF9	TEKT3_HUMAN	tektin 3	49					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)		GGTCTCCAAGGAAGGCTCAGG	0.542000													4	30					0	0	1	0	0
SLC38A3	10991	broad.mit.edu	37	3	50252990	50252990	+	RNA	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr3:50252990G>A	ENST00000420502.1	+	0	541							Q99624	S38A3_HUMAN	solute carrier family 38, member 3						cellular nitrogen compound metabolic process|sodium ion transport	integral to plasma membrane	antiporter activity|L-alanine transmembrane transporter activity|L-asparagine transmembrane transporter activity|L-glutamine transmembrane transporter activity|L-histidine transmembrane transporter activity|symporter activity			breast(1)|cervix(1)|endometrium(1)|lung(3)	6				BRCA - Breast invasive adenocarcinoma(193;0.000275)|KIRC - Kidney renal clear cell carcinoma(197;0.00548)|Kidney(197;0.00615)	L-Asparagine(DB00174)|L-Glutamine(DB00130)|L-Histidine(DB00117)	CCGTGCCTATGAGCAGCTGGG	0.627000													4	52					0	0	1	0	0
HLA-DQB2	3120	broad.mit.edu	37	6	32726881	32726881	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr6:32726881G>C	ENST00000435145.2	-	3	453	c.392C>G	c.(391-393)tCc>tGc	p.S131C	HLA-DQB2_ENST00000437316.2_Missense_Mutation_p.S131C|HLA-DQB2_ENST00000411527.1_Missense_Mutation_p.S131C			Q5SR06	Q5SR06_HUMAN	major histocompatibility complex, class II, DQ beta 2	131					antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|immune response	integral to membrane|MHC class II protein complex				endometrium(1)|kidney(1)|lung(1)|prostate(2)	5						CTCTGTCCTGGATGGGGAGAT	0.552000													3	73					0	0	1	0	0
GPRASP1	9737	broad.mit.edu	37	X	101912847	101912847	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chrX:101912847C>T	ENST00000537097.1	+	6	4819	c.4006C>T	c.(4006-4008)Caa>Taa	p.Q1336*	RP4-769N13.7_ENST00000602441.1_RNA|GPRASP1_ENST00000415986.1_Nonsense_Mutation_p.Q1336*|GPRASP1_ENST00000361600.5_Nonsense_Mutation_p.Q1336*|GPRASP1_ENST00000444152.1_Nonsense_Mutation_p.Q1336*	NM_001184727.1	NP_001171656.1	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting protein 1	1336	OPRD1-binding.					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						TGACAATATTCAAATTGTTCT	0.328000													7	32					0	0	1	0	0
TSKS	60385	broad.mit.edu	37	19	50243088	50243088	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr19:50243088C>A	ENST00000246801.3	-	11	1806	c.1724G>T	c.(1723-1725)gGa>gTa	p.G575V	TSKS_ENST00000358830.3_Missense_Mutation_p.G375V	NM_021733.1	NP_068379.1	Q9UJT2	TSKS_HUMAN	testis-specific serine kinase substrate	575							protein binding			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)		ACTGCTGCCTCCCCCCATTGT	0.552000													13	102					0.000219431	0.000228841	1	1	0
ZCWPW1	55063	broad.mit.edu	37	7	99998716	99998716	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr7:99998716C>G	ENST00000398027.2	-	18	2115	c.1868G>C	c.(1867-1869)aGa>aCa	p.R623T	ZCWPW1_ENST00000490721.1_Missense_Mutation_p.R452T|ZCWPW1_ENST00000360951.4_3'UTR|ZCWPW1_ENST00000324725.6_Missense_Mutation_p.R452T	NM_017984.4	NP_060454.3	Q9H0M4	ZCPW1_HUMAN	zinc finger, CW type with PWWP domain 1	623							zinc ion binding			breast(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)	16	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CCCCAGCTCTCTCCCAACATC	0.622000													5	53					0	0	1	0	0
CHD8	57680	broad.mit.edu	37	14	21897300	21897300	+	Silent	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr14:21897300C>T	ENST00000399982.2	-	2	1102	c.1038G>A	c.(1036-1038)caG>caA	p.Q346Q	CHD8_ENST00000557364.1_Silent_p.Q346Q|CHD8_ENST00000430710.3_Silent_p.Q67Q|CHD8_ENST00000555962.1_Intron	NM_001170629.1	NP_001164100.1	Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	346	Gln-rich.				ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		TTTGCTGTGGCTGCTGCACCT	0.567000													9	87					0	0	1	0	0
NUDT4	11163	broad.mit.edu	37	12	93792607	93792607	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr12:93792607G>C	ENST00000337179.5	+	4	759	c.319G>C	c.(319-321)Gat>Cat	p.D107H	NUDT4_ENST00000547014.1_Missense_Mutation_p.D55H|NUDT4_ENST00000548662.1_Missense_Mutation_p.D54H|NUDT4_ENST00000549992.1_Missense_Mutation_p.D54H|NUDT4_ENST00000415493.2_Missense_Mutation_p.D106H	NM_199040.2	NP_950241.1	Q9NZJ9	NUDT4_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 4	106	Nudix hydrolase.				calcium-mediated signaling|cyclic nucleotide metabolic process|cyclic-nucleotide-mediated signaling|intracellular transport|regulation of RNA export from nucleus	cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding			endometrium(2)|kidney(1)|lung(2)	5						AATATTAGAAGATTGGGAAGA	0.323000													3	26					0	0	1	0	0
HIVEP1	3096	broad.mit.edu	37	6	12123010	12123010	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr6:12123010G>A	ENST00000379388.2	+	4	3314	c.2982G>A	c.(2980-2982)atG>atA	p.M994I		NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	994					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				AGGTAGCCATGAGAGAACCTG	0.473000													9	256					0	0	1	0	0
ZFP64	55734	broad.mit.edu	37	20	50768754	50768754	+	Silent	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr20:50768754C>T	ENST00000216923.4	-	6	2326	c.1977G>A	c.(1975-1977)caG>caA	p.Q659Q	ZFP64_ENST00000477786.1_Intron|ZFP64_ENST00000371518.2_Intron|ZFP64_ENST00000361387.2_Intron|ZFP64_ENST00000346617.4_Silent_p.Q605Q|ZFP64_ENST00000371515.4_Silent_p.Q657Q	NM_018197.2|NM_199426.1	NP_060667.2|NP_955458.1	Q9NPA5	ZF64A_HUMAN	ZFP64 zinc finger protein	659					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						TGGAGTAGGTCTGCTTGGGTA	0.547000													4	126					0	0	1	0	0
CDK8	1024	broad.mit.edu	37	13	26828880	26828880	+	Silent	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr13:26828880C>T	ENST00000381527.3	+	1	605	c.102C>T	c.(100-102)caC>caT	p.H34H	CDK8_ENST00000536792.1_Silent_p.H34H	NM_001260.1	NP_001251.1	P49336	CDK8_HUMAN	cyclin-dependent kinase 8	34	Protein kinase.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mediator complex	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	25	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0384)|Epithelial(112;0.142)|OV - Ovarian serous cystadenocarcinoma(117;0.188)		CTTATGGTCACGTCTACAAAG	0.607000													7	28					0	0	1	0	0
UBE3A	7337	broad.mit.edu	37	15	25601128	25601128	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr15:25601128T>C	ENST00000232165.3	-	9	2691	c.2035A>G	c.(2035-2037)Ata>Gta	p.I679V	UBE3A_ENST00000438097.1_Missense_Mutation_p.I659V|UBE3A_ENST00000566215.1_Missense_Mutation_p.I659V|UBE3A_ENST00000428984.2_Missense_Mutation_p.I659V|SNHG14_ENST00000554726.1_RNA|UBE3A_ENST00000397954.2_Missense_Mutation_p.I682V	NM_000462.3|NM_130839.2	NP_000453.2|NP_570854.1	Q05086	UBE3A_HUMAN	ubiquitin protein ligase E3A	682					brain development|interspecies interaction between organisms|protein K48-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	38		all_cancers(20;3.47e-21)|Breast(32;0.00123)		all cancers(64;2.78e-08)|Epithelial(43;8.85e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0155)|Lung(196;0.0616)		GTCTGTGATATCTGGAAAGTG	0.323000													7	137					0	0	1	0	0
ZFC3H1	196441	broad.mit.edu	37	12	72057344	72057344	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr12:72057344G>A	ENST00000378743.3	-	1	405	c.47C>T	c.(46-48)cCg>cTg	p.P16L	ZFC3H1_ENST00000552037.1_Missense_Mutation_p.P16L|THAP2_ENST00000308086.2_5'UTR|ZFC3H1_ENST00000548100.1_Missense_Mutation_p.P16L	NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	16					RNA processing	intracellular	metal ion binding			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						TTCTTCCTTCGGCGAGAGGCC	0.652000											OREG0021993	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	181					0	0	1	0	0
KIAA0100	9703	broad.mit.edu	37	17	26958554	26958554	+	Silent	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr17:26958554G>A	ENST00000528896.2	-	23	4316	c.4242C>T	c.(4240-4242)caC>caT	p.H1414H	KIAA0100_ENST00000544884.1_Silent_p.H1271H|KIAA0100_ENST00000389003.3_Silent_p.H1271H	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	1414						extracellular region				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					AGCTCAGCAGGTGGGTCTTTG	0.483000													6	77					0	0	1	0	0
CILP2	148113	broad.mit.edu	37	19	19655890	19655890	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr19:19655890C>T	ENST00000586018.1	+	8	2656	c.2554C>T	c.(2554-2556)Cgg>Tgg	p.R852W	CILP2_ENST00000291495.5_Missense_Mutation_p.R846W			Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	846						proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						GGGGTACCGTCGGACGGACCA	0.706000													4	27					0	0	1	0	0
RMDN1	51115	broad.mit.edu	37	8	87486538	87486538	+	Silent	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr8:87486538C>T	ENST00000406452.3	-	10	1103	c.944G>A	c.(943-945)tGa>tAa	p.*315*	RMDN1_ENST00000523911.1_Intron|RMDN1_ENST00000519966.1_Silent_p.*272*|RMDN1_ENST00000430676.2_Silent_p.*285*	NM_016033.2	NP_057117.2			regulator of microtubule dynamics 1																		GAAAAGTTCTCAATTCTTCTC	0.299000													6	95					0	0	1	0	0
TNFRSF1B	7133	broad.mit.edu	37	1	12262060	12262060	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr1:12262060G>T	ENST00000376259.3	+	9	1026	c.937G>T	c.(937-939)Ggc>Tgc	p.G313C	TNFRSF1B_ENST00000492361.1_3'UTR	NM_001066.2	NP_001057.1	P20333	TNR1B_HUMAN	tumor necrosis factor receptor superfamily, member 1B	313					apoptosis	extracellular region|integral to membrane|membrane raft|plasma membrane	tumor necrosis factor receptor activity			central_nervous_system(1)|liver(1)|lung(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	Ovarian(185;0.249)	Lung NSC(185;8.72e-05)|all_lung(284;9.92e-05)|Renal(390;0.000147)|Colorectal(325;0.000584)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;5.52e-07)|COAD - Colon adenocarcinoma(227;0.000345)|BRCA - Breast invasive adenocarcinoma(304;0.000353)|Kidney(185;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00302)|STAD - Stomach adenocarcinoma(313;0.00815)|READ - Rectum adenocarcinoma(331;0.0284)	Etanercept(DB00005)|Infliximab(DB00065)	GGGTACACAGGGCCCCGAGCA	0.662000													3	20					1	1	1	1	0
TTN	7273	broad.mit.edu	37	2	179440352	179440352	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr2:179440352A>C	ENST00000589042.1	-	326	70731	c.70507T>G	c.(70507-70509)Tgt>Ggt	p.C23503G	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.C14438G|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.C21862G|TTN_ENST00000359218.5_Missense_Mutation_p.C14563G|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.C14630G|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.C20935G|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	21862	Ig-like 119.						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)			AAATATTCACACCCTTCAGAC	0.438000													9	72					0	0	1	0	0
NFATC3	4775	broad.mit.edu	37	16	68160443	68160443	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr16:68160443G>A	ENST00000349223.5	+	3	1555	c.1331G>A	c.(1330-1332)cGa>cAa	p.R444Q	NFATC3_ENST00000346183.3_Missense_Mutation_p.R444Q|NFATC3_ENST00000329524.4_Missense_Mutation_p.R444Q|NFATC3_ENST00000535127.2_3'UTR|NFATC3_ENST00000575270.1_Missense_Mutation_p.R444Q	NM_173163.2	NP_775186.1	Q12968	NFAC3_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 3	444	RHD.				inflammatory response|transcription from RNA polymerase II promoter	nucleolus|plasma membrane	DNA binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	44		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24)		ACTCATCATCGAGCCCATTAT	0.443000													7	74					0	0	1	0	0
GRAMD2	196996	broad.mit.edu	37	15	72455648	72455648	+	Silent	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr15:72455648C>T	ENST00000309731.7	-	10	928	c.915G>A	c.(913-915)ctG>ctA	p.L305L	GRAMD2_ENST00000564184.1_5'UTR	NM_001012642.2	NP_001012660.1	Q8IUY3	GRAM2_HUMAN	GRAM domain containing 2	305						integral to membrane		p.L305L(1)		cervix(2)|endometrium(1)|large_intestine(4)|lung(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	13						CCCAGAGCCTCAGCTCCCCAG	0.562000													6	53					0	0	1	0	0
YTHDC1	91746	broad.mit.edu	37	4	69188522	69188522	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr4:69188522G>A	ENST00000344157.4	-	11	1881	c.1546C>T	c.(1546-1548)Cag>Tag	p.Q516*	YTHDC1_ENST00000579690.1_Nonsense_Mutation_p.Q516*|YTHDC1_ENST00000355665.3_Nonsense_Mutation_p.Q498*	NM_001031732.2	NP_001026902.1	Q96MU7	YTDC1_HUMAN	YTH domain containing 1	516	Arg-rich.									NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	30						GATCGGGGCTGAGAATGCATT	0.463000													12	69					0	0	1	0	0
DGKZ	8525	broad.mit.edu	37	11	46389235	46389235	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr11:46389235G>C	ENST00000454345.1	+	4	996	c.871G>C	c.(871-873)Gag>Cag	p.E291Q	DGKZ_ENST00000343674.6_Missense_Mutation_p.E119Q|DGKZ_ENST00000527911.1_Missense_Mutation_p.E102Q|DGKZ_ENST00000543978.1_Intron|DGKZ_ENST00000456247.2_Missense_Mutation_p.E102Q|DGKZ_ENST00000395574.3_Missense_Mutation_p.E68Q|DGKZ_ENST00000318201.8_Missense_Mutation_p.E102Q|DGKZ_ENST00000528615.1_Intron|DGKZ_ENST00000532868.2_Missense_Mutation_p.E106Q|DGKZ_ENST00000421244.2_Missense_Mutation_p.E102Q	NM_001105540.1	NP_001099010.1	Q13574	DGKZ_HUMAN	diacylglycerol kinase, zeta	291					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell migration|intracellular signal transduction|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of mitotic cell cycle|platelet activation	cytoplasm|lamellipodium|nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|lipid kinase activity|metal ion binding|protein binding|protein C-terminus binding			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|pancreas(1)|prostate(1)|skin(1)	25				GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141)		CATCTGGTTCGAGACCAACGT	0.657000											OREG0020942	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	64					0	0	1	0	0
GGT1	2678	broad.mit.edu	37	22	25023891	25023891	+	Silent	SNP	C	C	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr22:25023891C>A	ENST00000400382.1	+	13	2036	c.1281C>A	c.(1279-1281)ccC>ccA	p.P427P	GGT1_ENST00000403838.1_Silent_p.P83P|GGT1_ENST00000406383.2_Silent_p.P427P|GGT1_ENST00000248923.4_Silent_p.P427P|GGT1_ENST00000404223.1_Silent_p.P83P|GGT1_ENST00000404532.1_Silent_p.P83P|GGT1_ENST00000466310.1_3'UTR|GGT1_ENST00000400383.1_Silent_p.P427P|GGT1_ENST00000404920.1_Silent_p.P83P|GGT1_ENST00000401885.1_Silent_p.P83P|GGT1_ENST00000400380.1_Silent_p.P427P			P19440	GGT1_HUMAN	gamma-glutamyltransferase 1	427					glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity|protein binding			breast(1)|endometrium(2)|kidney(14)|large_intestine(2)|lung(6)|pancreas(1)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	40					Glutathione(DB00143)	TCAGCTCTCCCAGCATCACCA	0.617000													12	201					2.31682e-05	2.44553e-05	1	1	0
IQSEC3	440073	broad.mit.edu	37	12	275008	275008	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr12:275008A>G	ENST00000538872.1	+	11	3041	c.2923A>G	c.(2923-2925)Aag>Gag	p.K975E	IQSEC3_ENST00000382841.2_Missense_Mutation_p.K672E|IQSEC3_ENST00000326261.4_Missense_Mutation_p.K975E|RP11-598F7.5_ENST00000540136.1_RNA			Q9UPP2	IQEC3_HUMAN	IQ motif and Sec7 domain 3	975	PH.				regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)		GGAGGACCTGAAGGAGTCCAT	0.602000													11	36					0	0	1	0	0
TRPC7	57113	broad.mit.edu	37	5	135692756	135692756	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr5:135692756C>A	ENST00000513104.1	-	2	602	c.320G>T	c.(319-321)gGg>gTg	p.G107V	TRPC7_ENST00000426057.2_Missense_Mutation_p.G107V|TRPC7_ENST00000355180.3_Missense_Mutation_p.G107V	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	107					axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CAGCGCGTCCCCCACCCGTGC	0.662000													5	38					0.217242	0.219044	1	1	0
VWCE	220001	broad.mit.edu	37	11	61034991	61034991	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr11:61034991G>C	ENST00000335613.5	-	16	2294	c.1908C>G	c.(1906-1908)ttC>ttG	p.F636L	VWCE_ENST00000535710.1_Missense_Mutation_p.F101L	NM_152718.2	NP_689931.2	Q96DN2	VWCE_HUMAN	von Willebrand factor C and EGF domains	636	VWFC 5.					extracellular region	calcium ion binding			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						CGTTGTTATAGAAGATTCTGC	0.612000													8	71					0	0	1	0	0
PLEKHH2	130271	broad.mit.edu	37	2	43968150	43968150	+	Silent	SNP	C	C	G			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr2:43968150C>G	ENST00000282406.4	+	21	3299	c.3189C>G	c.(3187-3189)ctC>ctG	p.L1063L		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	1063	MyTH4.					cytoplasm|cytoskeleton|integral to membrane	binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				TGTGGCTCCTCAGGCTTCACC	0.507000													12	76					0	0	1	0	0
PZP	5858	broad.mit.edu	37	12	9317766	9317766	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr12:9317766G>A	ENST00000261336.2	-	19	2484	c.2456C>T	c.(2455-2457)aCg>aTg	p.T819M	PZP_ENST00000381997.2_Missense_Mutation_p.T688M|PZP_ENST00000539983.1_5'UTR	NM_002864.2	NP_002855.2			pregnancy-zone protein									p.T819M(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						GTTTAGGACCGTGGCCTTGAG	0.493000													7	90					0	0	1	0	0
ZNF526	116115	broad.mit.edu	37	19	42728808	42728808	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr19:42728808G>A	ENST00000301215.3	+	3	478	c.253G>A	c.(253-255)Gag>Aag	p.E85K		NM_133444.1	NP_597701.1	Q8TF50	ZN526_HUMAN	zinc finger protein 526	85					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(3)	22		Prostate(69;0.0704)				TGCTGTCTCAGAGGAGGAGGC	0.582000													9	55					0	0	1	0	0
VPS9D1	9605	broad.mit.edu	37	16	89775292	89775292	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr16:89775292C>A	ENST00000561976.1	-	12	1837	c.1460G>T	c.(1459-1461)gGg>gTg	p.G487V	VPS9D1_ENST00000389386.3_Missense_Mutation_p.G557V					VPS9 domain containing 1																		GGGCGGGGGCCCGGCCTGGGG	0.667000													5	19					2.7689e-08	3.00623e-08	1	1	0
LRRC2	79442	broad.mit.edu	37	3	46586552	46586552	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr3:46586552G>A	ENST00000395905.3	-	3	709	c.317C>T	c.(316-318)tCt>tTt	p.S106F	LRRC2_ENST00000296144.3_Missense_Mutation_p.S106F	NM_024512.4	NP_078788.2	Q9BYS8	LRRC2_HUMAN	leucine rich repeat containing 2	106										breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	17		Ovarian(412;0.0563)		OV - Ovarian serous cystadenocarcinoma(275;6.37e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00133)|KIRC - Kidney renal clear cell carcinoma(197;0.0214)|Kidney(197;0.0254)		GTGCTCCCCAGAAAGTTCAAA	0.537000													26	276					0	0	1	0	0
HOXB1	3211	broad.mit.edu	37	17	46607120	46607120	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr17:46607120C>T	ENST00000239174.6	-	2	787	c.695G>A	c.(694-696)cGg>cAg	p.R232Q	HOXB1_ENST00000577092.1_3'UTR	NM_002144.3	NP_002135.2	P14653	HXB1_HUMAN	homeobox B1	232						nucleus	protein domain specific binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						CTCCACCCTCCGGGCCCGGCT	0.572000													14	172					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113267562	113267562	+	Silent	SNP	A	A	G			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr8:113267562A>G	ENST00000297405.5	-	62	10201	c.9957T>C	c.(9955-9957)ttT>ttC	p.F3319F	CSMD3_ENST00000343508.3_Silent_p.F3279F|CSMD3_ENST00000352409.3_Silent_p.F3249F|CSMD3_ENST00000455883.2_Silent_p.F3150F	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3319	Sushi 26.					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						ATATGAAAGGAAAATTGCAGC	0.413000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			9	55					0	0	1	0	0
RXRG	6258	broad.mit.edu	37	1	165380319	165380319	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr1:165380319C>T	ENST00000359842.5	-	5	952	c.650G>A	c.(649-651)cGa>cAa	p.R217Q	RXRG_ENST00000470566.1_5'UTR	NM_001256570.1|NM_006917.4	NP_001243499.1|NP_008848.1	P48443	RXRG_HUMAN	retinoid X receptor, gamma	217	Hinge.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			endometrium(1)|kidney(3)|large_intestine(6)|lung(22)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	38	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)				Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tretinoin(DB00755)	AGCTCGCTCTCGGCTCCTCTG	0.493000													19	57					0	0	1	0	0
MRPL40	64976	broad.mit.edu	37	22	19422269	19422269	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr22:19422269C>T	ENST00000333130.3	+	3	801	c.148C>T	c.(148-150)Ctt>Ttt	p.L50F	HIRA_ENST00000541063.1_Intron|HIRA_ENST00000546308.1_Intron|MRPL40_ENST00000443660.1_3'UTR	NM_003776.2	NP_003767.2	Q9NQ50	RM40_HUMAN	mitochondrial ribosomal protein L40	50					anatomical structure morphogenesis	mitochondrial ribosome|nucleus				endometrium(1)|upper_aerodigestive_tract(1)	2	Colorectal(54;0.0993)					ATCAGAACCTCTTCGAAAAAA	0.383000													3	22					0	0	1	0	0
ATG16L1	55054	broad.mit.edu	37	2	234191385	234191385	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr2:234191385G>A	ENST00000392017.4	+	12	1446	c.1189G>A	c.(1189-1191)Gat>Aat	p.D397N	ATG16L1_ENST00000498620.1_3'UTR|ATG16L1_ENST00000392018.1_Missense_Mutation_p.D414N|ATG16L1_ENST00000373525.5_Missense_Mutation_p.D218N|ATG16L1_ENST00000347464.5_Missense_Mutation_p.D234N|ATG16L1_ENST00000392020.4_Missense_Mutation_p.D378N	NM_001190266.1|NM_001190267.1|NM_030803.6	NP_001177195.1|NP_001177196.1|NP_110430.5	Q676U5	A16L1_HUMAN	autophagy related 16-like 1 (S. cerevisiae)	397					autophagic vacuole assembly|protein homooligomerization|protein transport	autophagic vacuole|pre-autophagosomal structure membrane	protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(7)|prostate(3)|skin(1)	25		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0539)		Epithelial(121;1.53e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000379)|LUSC - Lung squamous cell carcinoma(224;0.00619)|Lung(119;0.00732)|GBM - Glioblastoma multiforme(43;0.11)		GACTGTGGATGATTATCGATT	0.413000													8	75					0	0	1	0	0
PHLDB2	90102	broad.mit.edu	37	3	111603863	111603863	+	Silent	SNP	C	C	T	rs142557577		TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr3:111603863C>T	ENST00000431670.2	+	2	1350	c.939C>T	c.(937-939)ccC>ccT	p.P313P	PHLDB2_ENST00000393925.3_Silent_p.P313P|PHLDB2_ENST00000477695.1_Silent_p.P313P|PHLDB2_ENST00000412622.1_Silent_p.P313P|PHLDB2_ENST00000393923.3_Silent_p.P340P|PHLDB2_ENST00000481953.1_Silent_p.P313P|PHLDB2_ENST00000478922.1_Silent_p.P313P	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	313						cytoplasm|intermediate filament cytoskeleton|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						GGGCTTTACCCTATAAAACCT	0.448000													12	53					0	0	1	0	0
EIF2AK2	5610	broad.mit.edu	37	2	37374916	37374916	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr2:37374916C>G	ENST00000233057.4	-	3	356	c.34G>C	c.(34-36)Gag>Cag	p.E12Q	EIF2AK2_ENST00000405334.1_Missense_Mutation_p.E12Q|EIF2AK2_ENST00000395127.2_Missense_Mutation_p.E12Q	NM_001135651.2	NP_001129123.1	P19525	E2AK2_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 2	12	DRBM 1.				evasion by virus of host immune response|modulation by virus of host cellular process|negative regulation of osteoblast proliferation|protein autophosphorylation|response to virus|viral infectious cycle	cytosol	ATP binding|double-stranded RNA binding|eukaryotic translation initiation factor 2alpha kinase activity|protein binding|protein phosphatase type 2A regulator activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)	22		all_hematologic(82;0.248)				TTAAGTTCCTCCATGAAGAAA	0.398000													16	127					0	0	1	0	0
ALS2CL	259173	broad.mit.edu	37	3	46712990	46712990	+	Silent	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr3:46712990G>A	ENST00000318962.4	-	25	2852	c.2769C>T	c.(2767-2769)ctC>ctT	p.L923L	ALS2CL_ENST00000415953.1_Silent_p.L923L|ALS2CL_ENST00000383742.3_Silent_p.L270L	NM_147129.3	NP_667340.2	Q60I27	AL2CL_HUMAN	ALS2 C-terminal like	923	VPS9.				endosome organization|regulation of Rho protein signal transduction		GTPase activator activity|identical protein binding|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(3)|stomach(2)	29				BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)		CCAGGGCTGTGAGCAGGAAGT	0.592000													5	68					0	0	1	0	0
GCKR	2646	broad.mit.edu	37	2	27728699	27728699	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr2:27728699C>T	ENST00000264717.2	+	10	928	c.865C>T	c.(865-867)Caa>Taa	p.Q289*	GCKR_ENST00000424318.2_Nonsense_Mutation_p.Q99*	NM_001486.3	NP_001477.2	Q14397	GCKR_HUMAN	glucokinase (hexokinase 4) regulator	289					carbohydrate metabolic process|glucose transport|negative regulation of glucokinase activity|positive regulation of gene expression|protein import into nucleus, translocation|regulation of glucose transport|response to fructose stimulus|transmembrane transport|triglyceride homeostasis|urate metabolic process	cytosol|nucleoplasm	fructose-6-phosphate binding|protein binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(2)	29	Acute lymphoblastic leukemia(172;0.155)					TGCAGCATCTCAAAGGTAGGG	0.537000													9	114					0	0	1	0	0
ASRGL1	80150	broad.mit.edu	37	11	62124476	62124476	+	Silent	SNP	G	G	C			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr11:62124476G>C	ENST00000415229.2	+	4	566	c.351G>C	c.(349-351)ctG>ctC	p.L117L	ASRGL1_ENST00000301776.5_Silent_p.L117L|ASRGL1_ENST00000535727.1_5'UTR	NM_001083926.1	NP_001077395.1	Q7L266	ASGL1_HUMAN	asparaginase like 1	117					asparagine catabolic process via L-aspartate|protein maturation	cytoplasm|microtubule cytoskeleton|nucleus	N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity			endometrium(1)|kidney(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	7					L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)	ATTGCTTTCTGACTGACCAAG	0.398000													3	61					0	0	1	0	0
WWTR1	25937	broad.mit.edu	37	3	149245664	149245664	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr3:149245664C>T	ENST00000465804.1	-	6	1120	c.864G>A	c.(862-864)atG>atA	p.M288I	WWTR1_ENST00000360632.3_Missense_Mutation_p.M288I|WWTR1_ENST00000467467.1_Missense_Mutation_p.M288I	NM_001168278.1	NP_001161750.1	Q9GZV5	WWTR1_HUMAN	WW domain containing transcription regulator 1	288					hippo signaling cascade|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of protein kinase activity|negative regulation of protein phosphorylation|positive regulation of cell proliferation|positive regulation of epithelial to mesenchymal transition|regulation of SMAD protein import into nucleus|stem cell division|transcription, DNA-dependent	cytoplasm	transcription coactivator activity	p.M288I(1)		breast(5)|cervix(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	23			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)			TGATGGATCTCATGTCTGGGG	0.463000			T	CAMTA1	epitheliod hemangioendothelioma								14	201					0	0	1	0	0
PARP8	79668	broad.mit.edu	37	5	49963917	49963917	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr5:49963917C>T	ENST00000281631.5	+	2	262	c.104C>T	c.(103-105)tCt>tTt	p.S35F	PARP8_ENST00000514342.2_5'UTR|PARP8_ENST00000503750.2_Missense_Mutation_p.S35F|PARP8_ENST00000513738.1_Missense_Mutation_p.S35F|PARP8_ENST00000505554.1_Missense_Mutation_p.S14F|PARP8_ENST00000514067.2_Missense_Mutation_p.S35F|PARP8_ENST00000511363.2_3'UTR|PARP8_ENST00000503665.1_Missense_Mutation_p.S35F|PARP8_ENST00000505697.2_Missense_Mutation_p.S35F	NM_001178056.1|NM_024615.3	NP_001171527.1|NP_078891.2	Q8N3A8	PARP8_HUMAN	poly (ADP-ribose) polymerase family, member 8	35						intracellular	NAD+ ADP-ribosyltransferase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Lung NSC(810;0.0305)|Breast(144;0.222)				TTCAGATACTCTGACTCCACC	0.453000													6	86					0	0	1	0	0
NLRP8	126205	broad.mit.edu	37	19	56466276	56466276	+	Silent	SNP	C	C	G			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr19:56466276C>G	ENST00000291971.3	+	3	923	c.852C>G	c.(850-852)ctC>ctG	p.L284L	NLRP8_ENST00000590542.1_Silent_p.L284L	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	284	NACHT.					cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		TTCTGCTGCTCTTGGATGGCT	0.522000													26	183					0	0	1	0	0
FFAR2	2867	broad.mit.edu	37	19	35940649	35940649	+	Silent	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr19:35940649C>T	ENST00000599180.2	+	2	113	c.33C>T	c.(31-33)ctC>ctT	p.L11L	FFAR2_ENST00000246549.2_Silent_p.L11L|FFAR2_ENST00000601590.1_Intron			O15552	FFAR2_HUMAN	free fatty acid receptor 2							integral to plasma membrane	G-protein coupled receptor activity|lipid binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(6)|skin(1)|urinary_tract(1)	22	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			CCTTGATCCTCATGGCTTACA	0.637000													7	105					0	0	1	0	0
KDM7A	80853	broad.mit.edu	37	7	139826545	139826545	+	Silent	SNP	G	G	C			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr7:139826545G>C	ENST00000397560.2	-	6	877	c.780C>G	c.(778-780)gtC>gtG	p.V260V	JHDM1D_ENST00000006967.5_Silent_p.V260V	NM_030647.1	NP_085150.1	Q6ZMT4	KDM7_HUMAN		260	JmjC.				midbrain development|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)	22	Melanoma(164;0.0142)					GCTTGGGAAAGACTGAATCAT	0.403000													13	84					0	0	1	0	0
FAM135B	51059	broad.mit.edu	37	8	139160802	139160802	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr8:139160802C>T	ENST00000395297.1	-	14	3579	c.3409G>A	c.(3409-3411)Gat>Aat	p.D1137N		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	1137										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)			TGAATTCCATCTTCCAAATTT	0.358000										HNSCC(54;0.14)			11	86					0	0	1	0	0
SLC4A7	9497	broad.mit.edu	37	3	27436152	27436152	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr3:27436152G>A	ENST00000295736.5	-	20	3017	c.2947C>T	c.(2947-2949)Cat>Tat	p.H983Y	SLC4A7_ENST00000437179.1_Missense_Mutation_p.H864Y|SLC4A7_ENST00000440156.1_Missense_Mutation_p.H979Y|SLC4A7_ENST00000428386.1_Missense_Mutation_p.H859Y|SLC4A7_ENST00000425128.2_3'UTR|SLC4A7_ENST00000446700.1_Missense_Mutation_p.H975Y|SLC4A7_ENST00000435667.2_Missense_Mutation_p.H868Y|SLC4A7_ENST00000454389.1_Missense_Mutation_p.H992Y|SLC4A7_ENST00000455077.1_Missense_Mutation_p.H864Y|SLC4A7_ENST00000445684.1_Missense_Mutation_p.H979Y|SLC4A7_ENST00000388777.4_Missense_Mutation_p.H533Y	NM_003615.4	NP_003606.3	Q9Y6M7	S4A7_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 7	983						apical plasma membrane|basolateral plasma membrane|integral to membrane|stereocilium	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1)	38						CTGTTGACATGACTTATTGAC	0.443000													19	77					0	0	1	0	0
MIA-RAB4B	100529262	broad.mit.edu	37	19	41281508	41281508	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr19:41281508G>A	ENST00000600729.1	+	2	483	c.61G>A	c.(61-63)Ggt>Agt	p.G21S	MIA_ENST00000597784.1_Missense_Mutation_p.G21S|MIA_ENST00000594436.1_Missense_Mutation_p.G21S|MIA_ENST00000263369.3_Missense_Mutation_p.G21S																							CTCCGGACCTGGTGTCAGGGG	0.622000													8	194					0	0	1	0	0
NCOA3	8202	broad.mit.edu	37	20	46279914	46279914	+	Silent	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr20:46279914C>T	ENST00000372004.3	+	20	4044	c.3828C>T	c.(3826-3828)ttC>ttT	p.F1276F	NCOA3_ENST00000371998.3_Silent_p.F1280F|NCOA3_ENST00000371997.3_Silent_p.F1271F|NCOA3_ENST00000341724.6_Silent_p.F1206F	NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2	NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1	Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	1280	Acetyltransferase.|Poly-Gln.				androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding			breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						CCCAGGCCTTCAGCCCACCTC	0.567000													4	61					0	0	1	0	0
GPR133	283383	broad.mit.edu	37	12	131487836	131487836	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr12:131487836C>A	ENST00000261654.5	+	10	1692	c.1133C>A	c.(1132-1134)tCt>tAt	p.S378Y	GPR133_ENST00000535015.1_Missense_Mutation_p.S410Y|GPR133_ENST00000376682.4_Missense_Mutation_p.S64Y	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	378					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		GAGGGCTCCTCTGCCATGGCA	0.602000													4	44					0.00116845	0.00120206	1	1	0
PTX3	5806	broad.mit.edu	37	3	157160451	157160451	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr3:157160451G>A	ENST00000295927.3	+	3	974	c.829G>A	c.(829-831)Gag>Aag	p.E277K	VEPH1_ENST00000362010.2_Intron|VEPH1_ENST00000543418.1_Intron|VEPH1_ENST00000392833.2_Intron|VEPH1_ENST00000392832.2_Intron	NM_002852.3	NP_002843.2	P26022	PTX3_HUMAN	pentraxin 3, long	277	Pentaxin.				inflammatory response	extracellular region				central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|stomach(1)	10			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			CTGGAATTCAGAGGAAGGGCT	0.537000													3	71					0	0	1	0	0
AIM2	9447	broad.mit.edu	37	1	159035904	159035904	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr1:159035904C>G	ENST00000368130.4	-	4	900	c.612G>C	c.(610-612)aaG>aaC	p.K204N		NM_004833.1	NP_004824.1	O14862	AIM2_HUMAN	absent in melanoma 2	204	HIN-200.				cellular response to drug|immune response|interleukin-1 beta secretion	mitochondrion|nucleus				breast(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(1)	16	all_hematologic(112;0.0429)					TAATTATTCTCTTTGGAATGA	0.358000													11	81					0	0	1	0	0
EPHB1	2047	broad.mit.edu	37	3	134851765	134851765	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr3:134851765G>T	ENST00000398015.3	+	5	1541	c.1171G>T	c.(1171-1173)Gtc>Ttc	p.V391F	EPHB1_ENST00000493838.1_5'UTR	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	391	Fibronectin type-III 1.					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						GGAGTGCCGCGTCTCCATCAG	0.622000													7	39					5.18039e-06	5.52575e-06	1	1	0
CLEC18C	283971	broad.mit.edu	37	16	70208893	70208893	+	Silent	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr16:70208893C>T	ENST00000569347.2	+	2	422	c.168C>T	c.(166-168)aaC>aaT	p.N56N	CLEC18C_ENST00000541793.2_Silent_p.N56N|CLEC18C_ENST00000314151.8_Silent_p.N56N|CLEC18C_ENST00000561612.1_3'UTR|CLEC18C_ENST00000536907.2_Silent_p.N56N	NM_173619.2	NP_775890.2			C-type lectin domain family 18, member C											endometrium(3)|large_intestine(6)|lung(1)	10						CCCTGCACAACCGCCTGCGCA	0.677000													5	66					0	0	1	0	0
SORBS1	10580	broad.mit.edu	37	10	97174257	97174257	+	Silent	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr10:97174257C>T	ENST00000371247.2	-	9	993	c.804G>A	c.(802-804)tcG>tcA	p.S268S	SORBS1_ENST00000361941.3_Silent_p.S268S|SORBS1_ENST00000393949.1_Silent_p.S259S|SORBS1_ENST00000353505.5_Silent_p.S199S|SORBS1_ENST00000371246.2_Silent_p.S268S|SORBS1_ENST00000607232.1_Intron|SORBS1_ENST00000371245.3_Silent_p.S199S|SORBS1_ENST00000371249.2_Silent_p.S236S|SORBS1_ENST00000306402.6_Intron|SORBS1_ENST00000371227.4_Silent_p.S268S|SORBS1_ENST00000354106.3_Silent_p.S259S|SORBS1_ENST00000277982.5_Silent_p.S268S|SORBS1_ENST00000474353.2_5'UTR|SORBS1_ENST00000371241.1_Intron|SORBS1_ENST00000347291.4_Intron|SORBS1_ENST00000371239.1_Intron			Q9BX66	SRBS1_HUMAN	sorbin and SH3 domain containing 1	268					focal adhesion assembly|glucose transport|insulin receptor signaling pathway|muscle contraction|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|stress fiber assembly	centrosome|cytosol|focal adhesion|membrane raft|nucleus|stress fiber|zonula adherens	actin binding|insulin receptor binding|SH3/SH2 adaptor activity			NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.0429)		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)		TTACGGTACTCGAAACAGCTC	0.602000													10	63					0	0	1	0	0
TTC9	23508	broad.mit.edu	37	14	71137851	71137851	+	Silent	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr14:71137851G>A	ENST00000256367.2	+	3	991	c.648G>A	c.(646-648)caG>caA	p.Q216Q		NM_015351.1	NP_056166.1	Q92623	TTC9A_HUMAN	tetratricopeptide repeat domain 9	216							binding			skin(1)	1				all cancers(60;0.00545)|BRCA - Breast invasive adenocarcinoma(234;0.00747)|OV - Ovarian serous cystadenocarcinoma(108;0.0538)		GATGCTCCCAGAGAGAAAAAG	0.567000													6	37					0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	216500943	216500943	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr1:216500943G>T	ENST00000366943.2	-	5	1224	c.838C>A	c.(838-840)Ctt>Att	p.L280I	USH2A_ENST00000366942.3_Missense_Mutation_p.L280I|USH2A_ENST00000307340.3_Missense_Mutation_p.L280I			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	280	Laminin N-terminal.		L -> F (in USH2A).		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)		CTGTTTGTAAGTGCCACTTGG	0.343000										HNSCC(13;0.011)			11	109					0.00010058	0.000105254	1	1	0
CLDN25	644672	broad.mit.edu	37	11	113650727	113650727	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr11:113650727C>G	ENST00000453129.2	+	1	259	c.210C>G	c.(208-210)ttC>ttG	p.F70L		NM_001101389.1	NP_001094859.1	C9JDP6	CLD25_HUMAN	claudin 25	70						integral to membrane|tight junction	structural molecule activity			large_intestine(1)|lung(6)|ovary(1)|urinary_tract(2)	10						TTGAATCCTTCTTGTCTCTGC	0.562000													8	90					0	0	1	0	0
LRP12	29967	broad.mit.edu	37	8	105509412	105509412	+	Silent	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr8:105509412G>A	ENST00000276654.5	-	5	1476	c.1368C>T	c.(1366-1368)ttC>ttT	p.F456F	LRP12_ENST00000424843.2_Silent_p.F437F	NM_013437.4	NP_038465.1	Q9Y561	LRP12_HUMAN	low density lipoprotein receptor-related protein 12	456	LDL-receptor class A 5.				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)			TTTTACAATGGAAATTTCCTG	0.418000													15	102					0	0	1	0	0
PRR23A	729627	broad.mit.edu	37	3	138724624	138724624	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr3:138724624C>T	ENST00000383163.2	-	1	486	c.487G>A	c.(487-489)Gag>Aag	p.E163K		NM_001134659.1	NP_001128131.1	A6NEV1	PR23A_HUMAN	proline rich 23A	163										endometrium(3)|kidney(1)|lung(7)	11						TCCGGAAACTCGGGGTCCGCG	0.657000													4	20					0	0	1	0	0
WDFY3	23001	broad.mit.edu	37	4	85638082	85638082	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr4:85638082G>C	ENST00000322366.6	-	48	8198	c.7791C>G	c.(7789-7791)atC>atG	p.I2597M	WDFY3_ENST00000295888.4_Missense_Mutation_p.I2614M			Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	2614						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		GAACTTCCTTGATATCTTCAT	0.368000													27	117					0	0	1	0	0
DCHS2	54798	broad.mit.edu	37	4	155157962	155157962	+	Silent	SNP	G	G	T	rs138701263	byFrequency	TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr4:155157962G>T	ENST00000357232.4	-	25	6476	c.6477C>A	c.(6475-6477)gtC>gtA	p.V2159V		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2		Cadherin 19.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		CAAGATAACCGACTTGCTTAT	0.403000													8	53					0.000442599	0.000457654	1	1	0
EXOC6	54536	broad.mit.edu	37	10	94733956	94733956	+	Silent	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr10:94733956G>A	ENST00000371552.4	+	18	1934	c.1905G>A	c.(1903-1905)ttG>ttA	p.L635L	EXOC6_ENST00000371547.4_Silent_p.L656L|EXOC6_ENST00000443748.2_Silent_p.L537L|EXOC6_ENST00000260762.6_Silent_p.L640L	NM_001013848.2	NP_001013870.1	Q8TAG9	EXOC6_HUMAN	exocyst complex component 6	640					protein transport|vesicle docking involved in exocytosis	exocyst				cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	26		Colorectal(252;0.123)				TAAATTTTTTGAGAAGCATCT	0.284000													5	56					0	0	1	0	0
KLF6	1316	broad.mit.edu	37	10	3824047	3824047	+	Silent	SNP	C	C	G			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr10:3824047C>G	ENST00000497571.1	-	2	722	c.462G>C	c.(460-462)ctG>ctC	p.L154L	KLF6_ENST00000173785.4_5'UTR|KLF6_ENST00000542957.1_Silent_p.L154L|KLF6_ENST00000469435.1_Silent_p.L154L	NM_001160124.1|NM_001300.5	NP_001153596.1|NP_001291.3	Q99612	KLF6_HUMAN	Kruppel-like factor 6	154					B cell differentiation	nucleus	zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				Colorectal(1;0.238)		GTTCCCTGCTCAGTTCCGGAG	0.612000											OREG0019980	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	73					0	0	1	0	0
VCAN	1462	broad.mit.edu	37	5	82833887	82833887	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr5:82833887A>G	ENST00000265077.3	+	8	5630	c.5065A>G	c.(5065-5067)Att>Gtt	p.I1689V	VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000342785.4_Intron|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000343200.5_Missense_Mutation_p.I702V|VCAN_ENST00000512590.2_Intron|VCAN-AS1_ENST00000512090.1_RNA	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	1689	GAG-beta.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		TGCAACCACCATTTATCCAGT	0.398000													14	72					0	0	1	0	0
ZNF99	7652	broad.mit.edu	37	19	22952087	22952087	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr19:22952087G>C	ENST00000397104.3	-	2	105	c.106C>G	c.(106-108)Ctg>Gtg	p.L36V	ZNF99_ENST00000596209.1_Missense_Mutation_p.L15V					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)				CACTCCTCCAGAGCGAATTCT	0.403000													11	99					0	0	1	0	0
RECQL	5965	broad.mit.edu	37	12	21624538	21624538	+	Silent	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr12:21624538G>A	ENST00000444129.2	-	13	1959	c.1491C>T	c.(1489-1491)atC>atT	p.I497I	RECQL_ENST00000421138.2_Silent_p.I497I	NM_002907.3|NM_032941.2	NP_002898.2|NP_116559.1	P46063	RECQ1_HUMAN	RecQ protein-like (DNA helicase Q1-like)	497					DNA recombination|DNA repair|DNA replication	nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|DNA strand annealing activity|protein binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	17						TCAGGATCTTGATTAGATCTC	0.383000								Other identified genes with known or suspected DNA repair function					5	89					0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	90149230	90149230	+	Silent	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr5:90149230G>A	ENST00000405460.2	+	80	17430	c.17334G>A	c.(17332-17334)ctG>ctA	p.L5778L	GPR98_ENST00000425867.2_Silent_p.L1439L	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	5778					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)		AGAGGCTACTGGATGTCCAGG	0.398000													4	24					0	0	1	0	0
HSD3B7	80270	broad.mit.edu	37	16	30998197	30998197	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr16:30998197C>T	ENST00000297679.5	+	6	661	c.568C>T	c.(568-570)Cgt>Tgt	p.R190C	HSD3B7_ENST00000262520.6_Intron|HSD3B7_ENST00000353250.5_Intron	NM_025193.3	NP_079469.2	Q9H2F3	3BHS7_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7	190					bile acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|cholest-5-ene-3-beta,7-alpha-diol 3-beta-dehydrogenase activity			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						GTGTGCCCTTCGTCCCACGGG	0.682000													4	49					0	0	1	0	0
PARD3	56288	broad.mit.edu	37	10	34671692	34671692	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr10:34671692C>T	ENST00000374789.3	-	9	1500	c.1175G>A	c.(1174-1176)aGg>aAg	p.R392K	PARD3_ENST00000374788.3_Missense_Mutation_p.R392K|PARD3_ENST00000545260.1_Missense_Mutation_p.R348K|PARD3_ENST00000374776.1_Missense_Mutation_p.R392K|PARD3_ENST00000544292.1_Missense_Mutation_p.R122K|PARD3_ENST00000350537.4_Missense_Mutation_p.R392K|PARD3_ENST00000545693.1_Missense_Mutation_p.R392K|PARD3_ENST00000374790.3_Missense_Mutation_p.R348K|PARD3_ENST00000340077.5_Missense_Mutation_p.R392K|PARD3_ENST00000374794.3_Missense_Mutation_p.R348K|PARD3_ENST00000374773.1_Missense_Mutation_p.R392K|PARD3_ENST00000346874.4_Missense_Mutation_p.R392K	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator	392					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly	cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				GTTCACACTCCTGTTGTCAAT	0.488000													10	75					0	0	1	0	0
PPFIA1	8500	broad.mit.edu	37	11	70202353	70202353	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr11:70202353C>T	ENST00000253925.7	+	19	2790	c.2575C>T	c.(2575-2577)Caa>Taa	p.Q859*	PPFIA1_ENST00000389547.3_Nonsense_Mutation_p.Q859*|AP000487.6_ENST00000528607.1_RNA	NM_003626.3	NP_003617.1	Q13136	LIPA1_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1	859					cell-matrix adhesion	cytoplasm	protein binding|signal transducer activity			breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			TCGTAAACTTCAAAAAAAGTA	0.393000													5	82					0	0	1	0	0
ZNF626	199777	broad.mit.edu	37	19	20828213	20828213	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr19:20828213G>A	ENST00000291750.6	-	4	417	c.268C>T	c.(268-270)Cat>Tat	p.H90Y	CTC-513N18.7_ENST00000595094.1_lincRNA|ZNF626_ENST00000601440.1_Intron	NM_145297.3	NP_660340.1	Q68DY1	ZN626_HUMAN	zinc finger protein 626	0			S -> N (in dbSNP:rs8110802).		regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|lung(3)|skin(1)	6						tatatgtcatgaagaggactt	0.378000													4	55					0	0	1	0	0
EPPK1	83481	broad.mit.edu	37	8	144940900	144940900	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr8:144940900G>C	ENST00000525985.1	-	2	6593	c.6522C>G	c.(6520-6522)ttC>ttG	p.F2174L				P58107	EPIPL_HUMAN	epiplakin 1	2174						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TAATTCCTTGGAACCACAGGT	0.527000													19	166					0	0	1	0	0
DNAI2	64446	broad.mit.edu	37	17	72285872	72285872	+	Silent	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr17:72285872C>T	ENST00000579490.1	+	4	913	c.778C>T	c.(778-780)Ctg>Ttg	p.L260L	DNAI2_ENST00000307504.5_Silent_p.L60L|DNAI2_ENST00000446837.2_Silent_p.L203L|DNAI2_ENST00000582036.1_Silent_p.L203L|DNAI2_ENST00000311014.6_Silent_p.L203L			Q9GZS0	DNAI2_HUMAN	dynein, axonemal, intermediate chain 2	203					cilium assembly	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(2)|lung(19)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						CATCTGGGACCTGGGTGAGAA	0.627000									Kartagener syndrome				10	56					0	0	1	0	0
PCMTD2	55251	broad.mit.edu	37	20	62896743	62896743	+	Silent	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr20:62896743C>T	ENST00000308824.6	+	4	670	c.543C>T	c.(541-543)ctC>ctT	p.L181L	PCMTD2_ENST00000369758.4_Silent_p.L181L|PCMTD2_ENST00000609372.1_Intron|PCMTD2_ENST00000299468.7_Silent_p.L181L	NM_018257.2	NP_060727.2	Q9NV79	PCMD2_HUMAN	protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 2	181						cytoplasm	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(9)|upper_aerodigestive_tract(1)	17	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					AGAATCTTCTCAAAGTGGGAG	0.483000													8	107					0	0	1	0	0
NRBP2	340371	broad.mit.edu	37	8	144921577	144921577	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr8:144921577G>C	ENST00000442628.2	-	6	628	c.489C>G	c.(487-489)ttC>ttG	p.F163L	NRBP2_ENST00000327830.5_5'UTR	NM_178564.3	NP_848659.2	Q9NSY0	NRBP2_HUMAN	nuclear receptor binding protein 2	163	Protein kinase.				negative regulation of neuron apoptosis|neuron differentiation	cytoplasm	ATP binding|protein kinase activity			central_nervous_system(2)|kidney(1)|large_intestine(2)	5	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;6.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			AGGCGTGCAGGAAGCTGCAGA	0.667000													5	10					0	0	1	0	0
ZMAT3	64393	broad.mit.edu	37	3	178742989	178742989	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr3:178742989C>A	ENST00000311417.2	-	6	1427	c.686G>T	c.(685-687)cGg>cTg	p.R229L	ZMAT3_ENST00000432729.1_Missense_Mutation_p.R228L	NM_022470.3	NP_071915.1	Q9HA38	ZMAT3_HUMAN	zinc finger, matrin-type 3	229					apoptosis|protein transport|regulation of growth|response to DNA damage stimulus|transmembrane transport	nucleolus	RNA binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(6)|lung(2)|ovary(2)|prostate(1)|skin(1)	14	all_cancers(143;3.31e-18)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;6.74e-27)|GBM - Glioblastoma multiforme(14;0.00448)|BRCA - Breast invasive adenocarcinoma(182;0.0527)			AATTCTCTGCCGAGAGCGGGG	0.418000													4	22					0.00024832	0.000258083	1	1	0
CISH	1154	broad.mit.edu	37	3	50645378	50645378	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr3:50645378G>A	ENST00000443053.2	-	4	715	c.488C>T	c.(487-489)tCc>tTc	p.S163F	CISH_ENST00000348721.3_Missense_Mutation_p.S146F	NM_013324.5	NP_037456.5	Q9NSE2	CISH_HUMAN	cytokine inducible SH2-containing protein	146	SH2.				intracellular signal transduction|negative regulation of signal transduction|regulation of cell growth	intracellular				breast(2)|lung(1)|stomach(1)|upper_aerodigestive_tract(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)		GCGTGGCCTGGACAAGCAGTT	0.582000													3	44					0	0	1	0	0
SLITRK4	139065	broad.mit.edu	37	X	142718202	142718202	+	Silent	SNP	G	G	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chrX:142718202G>T	ENST00000381779.4	-	2	948	c.723C>A	c.(721-723)atC>atA	p.I241I	SLITRK4_ENST00000356928.1_Silent_p.I241I|SLITRK4_ENST00000338017.4_Silent_p.I241I	NM_001184749.2|NM_001184750.1|NM_173078.4	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	241	LRRCT 1.					integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					GAGTTTCACAGATAGCTTCTC	0.433000													7	18					1.12685e-05	1.1936e-05	1	1	0
ARHGEF12	23365	broad.mit.edu	37	11	120298895	120298895	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr11:120298895C>G	ENST00000397843.2	+	8	690	c.524C>G	c.(523-525)tCt>tGt	p.S175C	ARHGEF12_ENST00000356641.3_Missense_Mutation_p.S156C|ARHGEF12_ENST00000532993.1_Missense_Mutation_p.S72C	NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12	175					apoptosis|axon guidance|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)		ATCATGACATCTCCTCATTCA	0.498000			T	MLL	AML								16	156					0	0	1	0	0
SETD2	29072	broad.mit.edu	37	3	47155366	47155366	+	Splice_Site	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr3:47155366G>A	ENST00000409792.3	-	5	4757	c.4715C>T	c.(4714-4716)tCg>tTg	p.S1572L		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	1572	SET.				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)		AAGAACTTACGAAGGAAGGTC	0.448000			"""N, F, S, Mis"""		clear cell renal carcinoma								3	56					0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152702384	152702384	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr6:152702384C>G	ENST00000367255.5	-	56	9367	c.8766G>C	c.(8764-8766)gaG>gaC	p.E2922D	SYNE1_ENST00000423061.1_Missense_Mutation_p.E2929D|SYNE1_ENST00000448038.1_Missense_Mutation_p.E2929D|SYNE1-AS1_ENST00000412161.1_RNA|SYNE1_ENST00000341594.5_Missense_Mutation_p.E2961D|SYNE1_ENST00000265368.4_Missense_Mutation_p.E2922D	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	2922					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)		GGGCCTGCATCTCCGTGTGCA	0.577000										HNSCC(10;0.0054)			11	146					0	0	1	0	0
SOX6	55553	broad.mit.edu	37	11	16071318	16071318	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr11:16071318C>T	ENST00000352083.6	-	11	1495	c.1418G>A	c.(1417-1419)gGa>gAa	p.G473E	SOX6_ENST00000396356.3_Missense_Mutation_p.G473E|SOX6_ENST00000527619.1_Missense_Mutation_p.G435E|SOX6_ENST00000528252.1_Missense_Mutation_p.G432E|SOX6_ENST00000528429.1_Missense_Mutation_p.G473E|SOX6_ENST00000316399.6_Missense_Mutation_p.G473E			P35712	SOX6_HUMAN	SRY (sex determining region Y)-box 6	473					muscle organ development	nucleus	sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|pancreas(1)|prostate(2)	43						GGATCCTCTTCCCAGGCTTCC	0.473000													19	199					0	0	1	0	0
C2CD5	9847	broad.mit.edu	37	12	22627716	22627716	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr12:22627716G>C	ENST00000333957.4	-	16	2267	c.2012C>G	c.(2011-2013)tCa>tGa	p.S671*	C2CD5_ENST00000542676.1_Nonsense_Mutation_p.S671*|C2CD5_ENST00000396028.2_Nonsense_Mutation_p.S662*|C2CD5_ENST00000446597.1_Nonsense_Mutation_p.S671*|C2CD5_ENST00000544930.1_Nonsense_Mutation_p.S486*|C2CD5_ENST00000545552.1_Nonsense_Mutation_p.S684*|C2CD5_ENST00000536386.1_Nonsense_Mutation_p.S673*	NM_014802.1	NP_055617.1			C2 calcium-dependent domain containing 5																		TTTCCCATGTGAAAGGTCTAA	0.383000													9	98					0	0	1	0	0
ARAP3	64411	broad.mit.edu	37	5	141044642	141044642	+	Silent	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr5:141044642G>A	ENST00000239440.4	-	19	2712	c.2647C>T	c.(2647-2649)Ctg>Ttg	p.L883L	ARAP3_ENST00000508305.1_Silent_p.L785L|ARAP3_ENST00000513878.1_Silent_p.L545L|ARAP3_ENST00000512390.1_5'UTR	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	883					cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						TCTCCTTGCAGATACAGGGTC	0.667000											OREG0016871	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	17					0	0	1	0	0
FZD6	8323	broad.mit.edu	37	8	104337008	104337008	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr8:104337008G>C	ENST00000358755.4	+	4	991	c.674G>C	c.(673-675)aGa>aCa	p.R225T	FZD6_ENST00000522566.1_Missense_Mutation_p.R225T|FZD6_ENST00000540287.1_Intron|FZD6_ENST00000523739.1_Missense_Mutation_p.R193T	NM_001164616.1|NM_003506.3	NP_001158088.1|NP_003497.2	O60353	FZD6_HUMAN	frizzled family receptor 6	225					angiogenesis|axonogenesis|cell proliferation in midbrain|establishment of planar polarity|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|inner ear morphogenesis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|neural tube closure|non-canonical Wnt receptor signaling pathway	apical part of cell|apicolateral plasma membrane|cytoplasm|integral to plasma membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	p.R225K(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	24			OV - Ovarian serous cystadenocarcinoma(57;2.86e-05)|STAD - Stomach adenocarcinoma(118;0.197)			ATTGATGTTAGAAGATTCAGA	0.333000													6	47					0	0	1	0	0
CHFR	55743	broad.mit.edu	37	12	133433092	133433092	+	Silent	SNP	C	C	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr12:133433092C>A	ENST00000266880.7	-	11	1290	c.1227G>T	c.(1225-1227)ctG>ctT	p.L409L	CHFR_ENST00000541837.2_5'UTR|CHFR_ENST00000432561.2_Silent_p.L409L|CHFR_ENST00000450056.2_Silent_p.L397L|CHFR_ENST00000537522.1_Silent_p.L31L|CHFR_ENST00000443047.2_Silent_p.L317L|CHFR_ENST00000315585.7_Silent_p.L368L			Q96EP1	CHFR_HUMAN	checkpoint with forkhead and ring finger domains, E3 ubiquitin protein ligase	409					cell division|mitosis|mitotic cell cycle checkpoint|modification-dependent protein catabolic process|protein polyubiquitination	PML body	nucleotide binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.00552)|all_epithelial(31;0.226)		OV - Ovarian serous cystadenocarcinoma(86;2.59e-08)|Epithelial(86;6.38e-07)|all cancers(50;1.56e-05)		CTGACAGCTCCAGCAGGTCCT	0.502000													30	101					2.65835e-16	2.94403e-16	1	1	0
USP32	84669	broad.mit.edu	37	17	58313541	58313541	+	Silent	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr17:58313541G>A	ENST00000300896.4	-	12	1391	c.1197C>T	c.(1195-1197)atC>atT	p.I399I	USP32_ENST00000592339.1_Silent_p.I69I	NM_032582.3	NP_115971.2	Q8NFA0	UBP32_HUMAN	ubiquitin specific peptidase 32	399	DUSP.				protein deubiquitination|ubiquitin-dependent protein catabolic process	Golgi apparatus|membrane	calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			ACTGCATGGAGATGATAAACC	0.393000													8	172					0	0	1	0	0
MYH11	4629	broad.mit.edu	37	16	15813524	15813524	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr16:15813524G>A	ENST00000452625.2	-	36	5108	c.5021C>T	c.(5020-5022)tCc>tTc	p.S1674F	MYH11_ENST00000576790.2_Missense_Mutation_p.S1667F|MYH11_ENST00000300036.5_Missense_Mutation_p.S1667F|NDE1_ENST00000342673.5_Intron|NDE1_ENST00000396354.1_Intron|NDE1_ENST00000396355.1_Intron|MYH11_ENST00000396324.3_Missense_Mutation_p.S1674F	NM_001040113.1	NP_001035202.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	1667					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						CTCATCTCTGGAGGCACGGGC	0.507000			T	CBFB	AML								9	96					0	0	1	0	0
ENO3	2027	broad.mit.edu	37	17	4859247	4859247	+	Silent	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr17:4859247C>T	ENST00000323997.6	+	9	1008	c.876C>T	c.(874-876)atC>atT	p.I292I	ENO3_ENST00000519584.1_Silent_p.I249I|ENO3_ENST00000518175.1_Silent_p.I292I	NM_001976.4|NM_053013.3	NP_001967.3|NP_443739.3	P13929	ENOB_HUMAN	enolase 3 (beta, muscle)	292					gluconeogenesis|glycolysis	phosphopyruvate hydratase complex	magnesium ion binding|phosphopyruvate hydratase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)	15						TGGTCTCCATCGAAGACCCCT	0.582000													29	234					0	0	1	0	0
GKN2	200504	broad.mit.edu	37	2	69173523	69173523	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr2:69173523C>T	ENST00000481498.1	-	5	403	c.385G>A	c.(385-387)Gac>Aac	p.D129N	GKN2_ENST00000328895.4_Missense_Mutation_p.D129N			Q86XP6	GKN2_HUMAN	gastrokine 2	129	BRICHOS.					extracellular region		p.D129Y(1)		autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(1)	15						CAATCCACGTCTTTGATCAGA	0.443000													11	207					0	0	1	0	0
PLCB1	23236	broad.mit.edu	37	20	8696958	8696958	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr20:8696958G>C	ENST00000378641.3	+	13	1773	c.1298G>C	c.(1297-1299)gGg>gCg	p.G433A	PLCB1_ENST00000494924.1_3'UTR|PLCB1_ENST00000338037.6_Missense_Mutation_p.G433A|PLCB1_ENST00000378637.2_Missense_Mutation_p.G433A	NM_182734.1	NP_877398.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	433	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						CTGATCTTTGGGGATGCCCTT	0.468000													8	40					0	0	1	0	0
PLCL1	5334	broad.mit.edu	37	2	198948543	198948543	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr2:198948543C>T	ENST00000428675.1	+	2	700	c.302C>T	c.(301-303)tCg>tTg	p.S101L	PLCL1_ENST00000437704.2_Missense_Mutation_p.S3L	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	101	Interaction with PPP1C.				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	AGCATGCCATCGGAAAAGAAA	0.383000													6	47					0	0	1	0	0
PLEC	5339	broad.mit.edu	37	8	144992989	144992989	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr8:144992989C>A	ENST00000322810.4	-	32	11580	c.11411G>T	c.(11410-11412)cGg>cTg	p.R3804L	PLEC_ENST00000354589.3_Missense_Mutation_p.R3667L|PLEC_ENST00000354958.2_Missense_Mutation_p.R3645L|PLEC_ENST00000345136.3_Missense_Mutation_p.R3667L|PLEC_ENST00000356346.3_Missense_Mutation_p.R3653L|PLEC_ENST00000527096.1_Missense_Mutation_p.R3690L|PLEC_ENST00000398774.2_Missense_Mutation_p.R3635L|PLEC_ENST00000357649.2_Missense_Mutation_p.R3671L|PLEC_ENST00000436759.2_Missense_Mutation_p.R3694L	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	3804	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						GGTGCCCTCCCGGAGCAGGTT	0.667000													5	30					0.0215528	0.0218766	1	1	0
SLC16A1	6566	broad.mit.edu	37	1	113459918	113459918	+	Silent	SNP	G	G	C			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr1:113459918G>C	ENST00000538576.1	-	4	1941	c.1110C>G	c.(1108-1110)ctC>ctG	p.L370L	SLC16A1_ENST00000369626.3_Silent_p.L370L|SLC16A1_ENST00000433570.4_Silent_p.L370L	NM_001166496.1	NP_001159968.1	P53985	MOT1_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 1	370					blood coagulation|leukocyte migration|organic anion transport|pyruvate metabolic process	integral to membrane|membrane fraction|plasma membrane	mevalonate transmembrane transporter activity|protein binding|secondary active monocarboxylate transmembrane transporter activity|symporter activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|urinary_tract(1)	20	Lung SC(450;0.246)	all_cancers(81;7.6e-08)|all_epithelial(167;3.82e-07)|all_lung(203;3.07e-05)|Lung NSC(69;5.51e-05)|Prostate(1639;0.00232)		Epithelial(280;7.31e-13)|all cancers(265;5.1e-10)|Kidney(133;5.29e-07)|KIRC - Kidney renal clear cell carcinoma(1967;8.63e-06)|OV - Ovarian serous cystadenocarcinoma(397;1.48e-05)|BRCA - Breast invasive adenocarcinoma(282;0.003)|LUSC - Lung squamous cell carcinoma(189;0.008)|Lung(183;0.00948)|Colorectal(144;0.0325)|COAD - Colon adenocarcinoma(174;0.0643)	Pyruvic acid(DB00119)	ATACGGAGCTGAGCCACCCGA	0.488000													3	51					0	0	1	0	0
CYFIP1	23191	broad.mit.edu	37	15	22929848	22929848	+	Silent	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr15:22929848G>A	ENST00000313077.7	+	6	647	c.522G>A	c.(520-522)ctG>ctA	p.L174L	CYFIP1_ENST00000560848.1_Silent_p.L174L	NM_014608.2	NP_055423.1	Q7L576	CYFP1_HUMAN	cytoplasmic FMR1 interacting protein 1	174					axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization	cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome	actin filament binding|Rac GTPase binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	40		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)		TGGACGAGCTGAAGAACATGA	0.582000													7	54					0	0	1	0	0
MRPL4	51073	broad.mit.edu	37	19	10369342	10369342	+	Silent	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr19:10369342C>T	ENST00000393733.2	+	8	747	c.720C>T	c.(718-720)ttC>ttT	p.F240F	MRPL4_ENST00000307422.5_Silent_p.F240F|CTD-2369P2.5_ENST00000592893.1_RNA|MRPL4_ENST00000590669.1_Silent_p.F240F|MRPL4_ENST00000253099.6_Silent_p.F240F			Q9BYD3	RM04_HUMAN	mitochondrial ribosomal protein L4	240					translation	mitochondrion|ribosome	structural constituent of ribosome			breast(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	11		Renal(1328;0.0112)	OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;1.99e-06)|all cancers(31;4.81e-06)	Lung(535;0.00705)		TTAAGACCTTCAACTTGATCC	0.567000													7	95					0	0	1	0	0
SCNN1A	6337	broad.mit.edu	37	12	6458367	6458367	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr12:6458367G>A	ENST00000358945.3	-	10	1966	c.1526C>T	c.(1525-1527)tCt>tTt	p.S509F	SCNN1A_ENST00000228916.2_Missense_Mutation_p.S487F|SCNN1A_ENST00000540037.1_Missense_Mutation_p.S187F|SCNN1A_ENST00000360168.3_Missense_Mutation_p.S546F|SCNN1A_ENST00000396966.2_Intron|SCNN1A_ENST00000543768.1_Missense_Mutation_p.S510F			P37088	SCNNA_HUMAN	sodium channel, non-voltage-gated 1 alpha subunit	487					excretion|response to stimulus|sensory perception of taste	apical plasma membrane	WW domain binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(2)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	27					Amiloride(DB00594)|Triamterene(DB00384)	GTAACCAGCAGAGAGCTGGTA	0.572000													15	164					0	0	1	0	0
MUC7	4589	broad.mit.edu	37	4	71339777	71339777	+	Silent	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr4:71339777G>A	ENST00000413702.1	+	3	327	c.39G>A	c.(37-39)ctG>ctA	p.L13L	MUC7_ENST00000456088.1_Silent_p.L13L|MUC7_ENST00000304887.5_Silent_p.L13L|MUC7_ENST00000514512.1_Intron	NM_001145006.1	NP_001138478.1	Q8TAX7	MUC7_HUMAN	mucin 7, secreted	13						extracellular region	protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			TCTGTGCACTGAGTGCTTGCT	0.373000													9	68					0	0	1	0	0
GABRA2	2555	broad.mit.edu	37	4	46390673	46390673	+	Silent	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr4:46390673G>A	ENST00000507460.1	-	2	383	c.51C>T	c.(49-51)ttC>ttT	p.F17F	GABRA2_ENST00000515082.1_Silent_p.F17F|GABRA2_ENST00000514090.1_Silent_p.F17F|GABRA2_ENST00000510861.1_Silent_p.F17F|GABRA2_ENST00000381620.4_Silent_p.F17F|GABRA2_ENST00000509716.1_5'UTR|GABRA2_ENST00000540012.1_5'UTR|GABRA2_ENST00000507069.1_Silent_p.F17F|GABRA2_ENST00000356504.1_Silent_p.F17F			P47869	GBRA2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 2	17					gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels	cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56					Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	CCCACACCAAGAAAACAAAAA	0.363000													9	120					0	0	1	0	0
WDR35	57539	broad.mit.edu	37	2	20138060	20138060	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr2:20138060G>A	ENST00000345530.3	-	19	2177	c.2062C>T	c.(2062-2064)Cag>Tag	p.Q688*	WDR35_ENST00000281405.4_Nonsense_Mutation_p.Q677*|WDR35_ENST00000416055.2_Nonsense_Mutation_p.Q253*	NM_001006657.1	NP_001006658.1	Q9P2L0	WDR35_HUMAN	WD repeat domain 35	688										breast(1)|endometrium(5)|kidney(8)|large_intestine(8)|lung(16)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCTATGAACTGAGATGCATCT	0.418000													5	99					0	0	1	0	0
NOX4	50507	broad.mit.edu	37	11	89223638	89223638	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr11:89223638G>C	ENST00000535633.1	-	2	379	c.69C>G	c.(67-69)caC>caG	p.H23Q	NOX4_ENST00000393282.2_Missense_Mutation_p.H47Q|NOX4_ENST00000527626.1_5'UTR|NOX4_ENST00000343727.5_Missense_Mutation_p.H23Q|NOX4_ENST00000534731.1_Missense_Mutation_p.H47Q|NOX4_ENST00000525196.1_Missense_Mutation_p.H47Q|NOX4_ENST00000413594.2_Missense_Mutation_p.H68Q|NOX4_ENST00000263317.4_Missense_Mutation_p.H47Q|NOX4_ENST00000375979.3_Missense_Mutation_p.H47Q|NOX4_ENST00000527956.1_Missense_Mutation_p.H23Q|NOX4_ENST00000532825.1_Missense_Mutation_p.H23Q|NOX4_ENST00000531342.1_Missense_Mutation_p.H47Q|NOX4_ENST00000528341.1_Intron|NOX4_ENST00000424319.1_Missense_Mutation_p.H23Q|NOX4_ENST00000542487.1_Missense_Mutation_p.H23Q	NM_001143836.1|NM_016931.3	NP_001137308.1|NP_058627.1	Q9NPH5	NOX4_HUMAN	NADPH oxidase 4	47					cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation	endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus	electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|nucleotide binding|oxygen sensor activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2)	44		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)				CCAACATCTGGTGGAGGTAGT	0.438000													10	93					0	0	1	0	0
TSHR	7253	broad.mit.edu	37	14	81609311	81609311	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr14:81609311G>C	ENST00000541158.2	+	11	1231	c.909G>C	c.(907-909)gaG>gaC	p.E303D	RP11-114N19.3_ENST00000557775.1_RNA|TSHR_ENST00000298171.2_Missense_Mutation_p.E303D			P16473	TSHR_HUMAN	thyroid stimulating hormone receptor	303					cell-cell signaling|positive regulation of cell proliferation	integral to plasma membrane	protein binding|thyroid-stimulating hormone receptor activity	p.E303E(1)		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)	TGTGTAATGAGAGCAGTATGC	0.502000			Mis		toxic thyroid adenoma	thyroid  adenoma	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism						6	92					0	0	1	0	0
PCDHGA2	56113	broad.mit.edu	37	5	140720046	140720046	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr5:140720046C>G	ENST00000394576.2	+	1	1508	c.1508C>G	c.(1507-1509)tCt>tGt	p.S503C	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1												p.S503F(2)		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)			CCCTTATCCTCTTACATCTCT	0.522000													6	57					0	0	1	0	0
GBF1	8729	broad.mit.edu	37	10	104136749	104136749	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr10:104136749G>C	ENST00000369983.3	+	33	4603	c.4343G>C	c.(4342-4344)cGc>cCc	p.R1448P		NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN	golgi brefeldin A resistant guanine nucleotide exchange factor 1	1448					COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		AAAGGGAACCGCTTCAAGAAG	0.517000													12	96					0	0	1	0	0
QRICH1	54870	broad.mit.edu	37	3	49114384	49114384	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr3:49114384G>A	ENST00000395443.2	-	2	539	c.67C>T	c.(67-69)Ccg>Tcg	p.P23S	QRICH1_ENST00000357496.2_Missense_Mutation_p.P23S|QRICH1_ENST00000424300.1_Missense_Mutation_p.P23S	NM_198880.1	NP_942581.1	Q2TAL8	QRIC1_HUMAN	glutamine-rich 1	23	CARD.									breast(2)|endometrium(5)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25				BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		CTGTGTTGCGGGACAGACCGT	0.488000													3	139					0	0	1	0	0
DIAPH3	81624	broad.mit.edu	37	13	60545102	60545102	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr13:60545102G>T	ENST00000400324.4	-	16	2063	c.1843C>A	c.(1843-1845)Ccc>Acc	p.P615T	DIAPH3_ENST00000400319.1_Missense_Mutation_p.P545T|DIAPH3_ENST00000267215.4_Missense_Mutation_p.P615T|DIAPH3_ENST00000465066.1_5'UTR|DIAPH3_ENST00000400330.1_Missense_Mutation_p.P615T|DIAPH3_ENST00000400320.1_Missense_Mutation_p.P569T|DIAPH3_ENST00000377908.2_Missense_Mutation_p.P604T	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	Q9NSV4	DIAP3_HUMAN	diaphanous-related formin 3	615	FH1.|Pro-rich.				actin cytoskeleton organization		actin binding|Rho GTPase binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		AATCCCAGGGGAGGTGGTGGA	0.542000													40	113					6.31075e-24	7.02736e-24	1	1	0
SLC25A47	283600	broad.mit.edu	37	14	100795964	100795964	+	Silent	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr14:100795964C>T	ENST00000361529.3	+	6	987	c.909C>T	c.(907-909)gcC>gcT	p.A303A	SLC25A47_ENST00000557052.1_Silent_p.A157A	NM_207117.2	NP_997000.2	Q6Q0C1	S2547_HUMAN	solute carrier family 25, member 47	303					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	13						TGAGGCTCGCCCGGGGTCTGC	0.652000													24	110					0	0	1	0	0
DNAJC14	85406	broad.mit.edu	37	12	56215782	56215782	+	Silent	SNP	C	C	G			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr12:56215782C>G	ENST00000357606.3	-	8	2377	c.2088G>C	c.(2086-2088)gtG>gtC	p.V696V	DNAJC14_ENST00000317269.3_Silent_p.V696V|RP11-762I7.5_ENST00000546837.1_Intron|DNAJC14_ENST00000317287.5_Silent_p.V696V|RP11-762I7.5_ENST00000552719.1_Intron			Q6Y2X3	DJC14_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 14	696					protein folding|protein transport	endoplasmic reticulum membrane|integral to membrane	heat shock protein binding|unfolded protein binding			breast(2)|kidney(1)|large_intestine(8)|lung(7)|ovary(3)|prostate(1)|skin(1)	23						AGGGCCTCCTCACTTTCTTCC	0.542000													14	128					0	0	1	0	0
PCDHB2	56133	broad.mit.edu	37	5	140475294	140475294	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr5:140475294A>G	ENST00000194155.4	+	1	1068	c.920A>G	c.(919-921)cAg>cGg	p.Q307R		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN		307	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTTTTAAGACAGAAACTGGAT	0.413000													7	66					0	0	1	0	0
FUCA2	2519	broad.mit.edu	37	6	143828485	143828485	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr6:143828485C>T	ENST00000002165.6	-	2	356	c.301G>A	c.(301-303)Gaa>Aaa	p.E101K	FUCA2_ENST00000367585.1_5'UTR|FUCA2_ENST00000438118.2_Missense_Mutation_p.E101K	NM_032020.4	NP_114409.2	Q9BTY2	FUCO2_HUMAN	fucosidase, alpha-L- 2, plasma						fucose metabolic process	extracellular region	alpha-L-fucosidase activity|cation binding			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9				OV - Ovarian serous cystadenocarcinoma(155;7.45e-06)|GBM - Glioblastoma multiforme(68;0.0142)		CCAAAATCTTCATATTTGAAA	0.373000													8	128					0	0	1	0	0
IL16	3603	broad.mit.edu	37	15	81552159	81552159	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr15:81552159C>A	ENST00000394660.2	+	3	719	c.359C>A	c.(358-360)gCa>gAa	p.A120E	IL16_ENST00000302987.4_Missense_Mutation_p.A120E	NM_001172128.1|NM_172217.3	NP_001165599.1|NP_757366.2	Q14005	IL16_HUMAN	interleukin 16	120					immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity	p.A120E(1)		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						AAACTAGAAGCACAAAGTAGT	0.443000													11	53					9.31168e-06	9.89773e-06	1	1	0
PGPEP1	54858	broad.mit.edu	37	19	18466806	18466806	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr19:18466806G>C	ENST00000269919.6	+	3	284	c.189G>C	c.(187-189)gaG>gaC	p.E63D	PGPEP1_ENST00000595066.1_Missense_Mutation_p.E63D|PGPEP1_ENST00000604499.2_Missense_Mutation_p.E63D|PGPEP1_ENST00000597431.2_Missense_Mutation_p.E63D|PGPEP1_ENST00000252813.5_5'UTR	NM_017712.2	NP_060182.1	Q9NXJ5	PGPI_HUMAN	pyroglutamyl-peptidase I								cysteine-type peptidase activity										CCCTGTGGGAGAAGCACAGTC	0.567000													5	100					0	0	1	0	0
AQP10	89872	broad.mit.edu	37	1	154296214	154296214	+	Silent	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr1:154296214C>T	ENST00000484864.1	+	5	675	c.639C>T	c.(637-639)ctC>ctT	p.L213L	AQP10_ENST00000324978.3_Silent_p.L213L|AQP10_ENST00000355197.4_3'UTR			Q96PS8	AQP10_HUMAN	aquaporin 10	213					response to toxin|transmembrane transport|water transport	integral to membrane|plasma membrane	transporter activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|stomach(2)|upper_aerodigestive_tract(1)	23	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			GGATTCCACTCAACCCTGCCC	0.642000													6	71					0	0	1	0	0
C3orf20	84077	broad.mit.edu	37	3	14798893	14798893	+	Silent	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr3:14798893G>A	ENST00000253697.3	+	13	2408	c.1956G>A	c.(1954-1956)gaG>gaA	p.E652E	C3orf20_ENST00000435614.1_Silent_p.E530E|C3orf20_ENST00000412910.1_Silent_p.E530E	NM_032137.4	NP_115513.4	Q8ND61	CC020_HUMAN	chromosome 3 open reading frame 20	652						cytoplasm|integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2)	40						AGGCCCGCGAGGGGCGCAGCC	0.667000													3	13					0	0	1	0	0
OSBP	5007	broad.mit.edu	37	11	59344488	59344488	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr11:59344488C>T	ENST00000263847.1	-	13	2550	c.2071G>A	c.(2071-2073)Gaa>Aaa	p.E691K		NM_002556.2	NP_002547.1	P22059	OSBP1_HUMAN	oxysterol binding protein	691					lipid transport	Golgi membrane	oxysterol binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		all_epithelial(135;0.000236)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)		TACATGTTTTCTGCATTCTTC	0.463000													3	65					0	0	1	0	0
SORCS1	114815	broad.mit.edu	37	10	108357148	108357148	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr10:108357148C>T	ENST00000263054.6	-	24	3233	c.3226G>A	c.(3226-3228)Gga>Aga	p.G1076R	SORCS1_ENST00000369698.1_Missense_Mutation_p.G611R|SORCS1_ENST00000344440.6_Missense_Mutation_p.G1076R	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	1076						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)		ACTCGGACTCCTGGCTTCAGC	0.502000													3	69					0	0	1	0	0
WRNIP1	56897	broad.mit.edu	37	6	2769089	2769089	+	Silent	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr6:2769089G>A	ENST00000380769.4	+	2	558	c.327G>A	c.(325-327)gaG>gaA	p.E109E	WRNIP1_ENST00000380771.4_Silent_p.E329E|WRNIP1_ENST00000380764.1_5'UTR|WRNIP1_ENST00000380773.4_Silent_p.E329E			Q96S55	WRIP1_HUMAN	Werner helicase interacting protein 1	329					DNA replication|DNA synthesis involved in DNA repair|regulation of DNA-dependent DNA replication initiation	mitochondrion|nucleus|perinuclear region of cytoplasm	ATP binding|ATPase activity|DNA binding|metal ion binding|protein binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	14	Ovarian(93;0.0412)	all_hematologic(90;0.0895)				TTATTGATGAGATTCATCGGT	0.343000													5	30					0	0	1	0	0
PAOX	196743	broad.mit.edu	37	10	135197564	135197564	+	Silent	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr10:135197564C>T	ENST00000278060.5	+	4	1052	c.969C>T	c.(967-969)atC>atT	p.I323I	PAOX_ENST00000480071.2_Intron|PAOX_ENST00000357296.3_Silent_p.I323I|PAOX_ENST00000368539.4_3'UTR|PAOX_ENST00000368535.2_3'UTR	NM_152911.2	NP_690875.1	Q6QHF9	PAOX_HUMAN	polyamine oxidase (exo-N4-amino)	461					polyamine biosynthetic process|xenobiotic metabolic process	peroxisomal matrix	polyamine oxidase activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|urinary_tract(2)	23		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		all cancers(32;4.39e-07)|OV - Ovarian serous cystadenocarcinoma(35;1.21e-06)|Epithelial(32;1.94e-06)		ACAACAAAATCTTCCTGGAGT	0.557000													4	56					0	0	1	0	0
PTPN22	26191	broad.mit.edu	37	1	114380651	114380651	+	Silent	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr1:114380651C>T	ENST00000359785.5	-	13	1506	c.1371G>A	c.(1369-1371)caG>caA	p.Q457Q	PTPN22_ENST00000538253.1_Silent_p.Q213Q|PTPN22_ENST00000525799.1_Silent_p.Q330Q|PTPN22_ENST00000528414.1_Silent_p.Q402Q|PTPN22_ENST00000460620.1_Intron|PTPN22_ENST00000420377.2_Silent_p.Q457Q	NM_001193431.1|NM_015967.5	NP_001180360.1|NP_057051	Q9Y2R2	PTN22_HUMAN	protein tyrosine phosphatase, non-receptor type 22 (lymphoid)	457					negative regulation of T cell activation|negative regulation of T cell receptor signaling pathway|phosphoanandamide dephosphorylation|regulation of B cell receptor signaling pathway|regulation of natural killer cell proliferation|T cell differentiation	internal side of plasma membrane|nucleus|perinuclear region of cytoplasm	kinase binding|protein tyrosine phosphatase activity|SH3 domain binding			NS(1)|breast(1)|kidney(3)|large_intestine(4)|lung(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Lung SC(450;0.184)	all_cancers(81;1.93e-08)|all_epithelial(167;4.37e-08)|all_lung(203;5.22e-06)|Lung NSC(69;8.94e-06)		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)		TGGTTTCTCTCTGCTGTATCA	0.373000													8	90					0	0	1	0	0
SORBS1	10580	broad.mit.edu	37	10	97096846	97096846	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr10:97096846G>A	ENST00000371247.2	-	30	3260	c.3071C>T	c.(3070-3072)tCa>tTa	p.S1024L	SORBS1_ENST00000361941.3_Missense_Mutation_p.S1024L|SORBS1_ENST00000393949.1_Intron|SORBS1_ENST00000353505.5_Intron|SORBS1_ENST00000371246.2_Intron|SORBS1_ENST00000607232.1_Intron|SORBS1_ENST00000371245.3_Intron|SORBS1_ENST00000371249.2_Intron|SORBS1_ENST00000306402.6_Intron|SORBS1_ENST00000371227.4_Missense_Mutation_p.S978L|SORBS1_ENST00000354106.3_Intron|SORBS1_ENST00000277982.5_Intron|SORBS1_ENST00000371241.1_Intron|SORBS1_ENST00000347291.4_Intron|SORBS1_ENST00000371239.1_Intron			Q9BX66	SRBS1_HUMAN	sorbin and SH3 domain containing 1	1024					focal adhesion assembly|glucose transport|insulin receptor signaling pathway|muscle contraction|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|stress fiber assembly	centrosome|cytosol|focal adhesion|membrane raft|nucleus|stress fiber|zonula adherens	actin binding|insulin receptor binding|SH3/SH2 adaptor activity			NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.0429)		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)		GGCCCTTGGTGACAAGGCGAG	0.607000													11	26					0	0	1	0	0
COL27A1	85301	broad.mit.edu	37	9	116973277	116973277	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr9:116973277C>A	ENST00000356083.3	+	12	2729	c.2338C>A	c.(2338-2340)Cct>Act	p.P780T		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	780	Collagen-like 3.|Pro-rich.|Triple-helical region.				cell adhesion		extracellular matrix structural constituent			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						GCCTGGCGTTCCTGGCAAGAG	0.642000													5	92					0.307466	0.309502	1	1	0
ATN1	1822	broad.mit.edu	37	12	7044738	7044738	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr12:7044738C>G	ENST00000356654.4	+	5	545	c.308C>G	c.(307-309)tCc>tGc	p.S103C	ATN1_ENST00000396684.2_Missense_Mutation_p.S103C	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN	atrophin 1	103					cell death|central nervous system development	cytoplasm|nucleus	protein domain specific binding			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						CAGTCTCCCTCCGATCTGGAT	0.532000													10	30					0	0	1	0	0
PTPN22	26191	broad.mit.edu	37	1	114380755	114380755	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr1:114380755C>G	ENST00000359785.5	-	13	1402	c.1267G>C	c.(1267-1269)Gag>Cag	p.E423Q	PTPN22_ENST00000538253.1_Missense_Mutation_p.E179Q|PTPN22_ENST00000525799.1_Missense_Mutation_p.E296Q|PTPN22_ENST00000528414.1_Missense_Mutation_p.E368Q|PTPN22_ENST00000460620.1_Intron|PTPN22_ENST00000420377.2_Missense_Mutation_p.E423Q	NM_001193431.1|NM_015967.5	NP_001180360.1|NP_057051	Q9Y2R2	PTN22_HUMAN	protein tyrosine phosphatase, non-receptor type 22 (lymphoid)	423					negative regulation of T cell activation|negative regulation of T cell receptor signaling pathway|phosphoanandamide dephosphorylation|regulation of B cell receptor signaling pathway|regulation of natural killer cell proliferation|T cell differentiation	internal side of plasma membrane|nucleus|perinuclear region of cytoplasm	kinase binding|protein tyrosine phosphatase activity|SH3 domain binding			NS(1)|breast(1)|kidney(3)|large_intestine(4)|lung(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Lung SC(450;0.184)	all_cancers(81;1.93e-08)|all_epithelial(167;4.37e-08)|all_lung(203;5.22e-06)|Lung NSC(69;8.94e-06)		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)		GAACATCCCTCAAACAAAAGA	0.388000													5	63					0	0	1	0	0
LAMA4	3910	broad.mit.edu	37	6	112512903	112512903	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr6:112512903C>G	ENST00000230538.7	-	6	1050	c.653G>C	c.(652-654)gGa>gCa	p.G218A	LAMA4_ENST00000389463.4_Missense_Mutation_p.G218A|LAMA4_ENST00000424408.2_Missense_Mutation_p.G218A|LAMA4_ENST00000522006.1_Missense_Mutation_p.G218A	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	218	Laminin EGF-like 3.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		ACACTTGAATCCGGTGGTGTT	0.488000													4	51					0	0	1	0	0
BTBD2	55643	broad.mit.edu	37	19	1993151	1993151	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr19:1993151C>G	ENST00000255608.4	-	3	568	c.552G>C	c.(550-552)caG>caC	p.Q184H	BTBD2_ENST00000590646.1_5'UTR	NM_017797.3	NP_060267.2	Q9BX70	BTBD2_HUMAN	BTB (POZ) domain containing 2	184	BTB.					cytoplasmic mRNA processing body	protein binding			endometrium(5)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|stomach(1)	12		Ovarian(11;2.11e-07)|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)		CCGGGCCAATCTGCACCTCGT	0.642000													7	44					0	0	1	0	0
EPPK1	83481	broad.mit.edu	37	8	144940861	144940861	+	Silent	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr8:144940861G>A	ENST00000525985.1	-	2	6632	c.6561C>T	c.(6559-6561)ctC>ctT	p.L2187L				P58107	EPIPL_HUMAN	epiplakin 1	2187						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TGGCTGAGCTGAGGAGTTCAG	0.537000													26	210					0	0	1	0	0
SHROOM3	57619	broad.mit.edu	37	4	77691979	77691979	+	Silent	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr4:77691979C>T	ENST00000296043.6	+	10	6503	c.5550C>T	c.(5548-5550)tcC>tcT	p.S1850S	RP11-359D14.3_ENST00000449007.1_RNA	NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	1850	ASD2.				apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			TGCTGCTCTCCCTCTCGGGGC	0.522000													24	103					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9025598	9025598	+	Silent	SNP	A	A	G			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr19:9025598A>G	ENST00000397910.4	-	15	37059	c.36856T>C	c.(36856-36858)Ttg>Ctg	p.L12286L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12288	SEA 2.				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						CACCTGAGCAAGGTCAATCTG	0.527000													21	115					0	0	1	0	0
TMCC3	57458	broad.mit.edu	37	12	94975783	94975783	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr12:94975783T>C	ENST00000261226.4	-	2	741	c.610A>G	c.(610-612)Aga>Gga	p.R204G	TMCC3_ENST00000551457.1_Missense_Mutation_p.R173G	NM_020698.2	NP_065749	Q9ULS5	TMCC3_HUMAN	transmembrane and coiled-coil domain family 3	204						integral to membrane				NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	29						GCAAACTCTCTGGACTTATTG	0.512000													13	82					0	0	1	0	0
IMMP2L	83943	broad.mit.edu	37	7	110526696	110526696	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr7:110526696C>T	ENST00000405709.2	-	5	803	c.361G>A	c.(361-363)Gaa>Aaa	p.E121K	IMMP2L_ENST00000489381.1_Intron|IMMP2L_ENST00000452895.1_Missense_Mutation_p.E121K|IMMP2L_ENST00000450877.1_Missense_Mutation_p.E103K|IMMP2L_ENST00000331762.3_Missense_Mutation_p.E121K|IMMP2L_ENST00000415362.1_Missense_Mutation_p.E121K	NM_032549.3	NP_115938.1	Q96T52	IMP2L_HUMAN	IMP2 inner mitochondrial membrane peptidase-like (S. cerevisiae)	121					protein processing involved in protein targeting to mitochondrion|proteolysis	integral to membrane|mitochondrial inner membrane peptidase complex|nucleus	serine-type peptidase activity			endometrium(3)|large_intestine(6)|lung(5)	14				UCEC - Uterine corpus endometrioid carcinoma (4;0.053)|Epithelial(3;2.27e-07)|all cancers(3;1.36e-05)|STAD - Stomach adenocarcinoma(3;0.00148)|KIRC - Kidney renal clear cell carcinoma(11;0.0339)|Lung(3;0.0375)|Kidney(11;0.0415)|LUSC - Lung squamous cell carcinoma(290;0.173)		TGATCACCTTCAACCCAGATG	0.403000													6	73					0	0	1	0	0
PCDHB10	56126	broad.mit.edu	37	5	140574096	140574096	+	Silent	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr5:140574096G>A	ENST00000239446.4	+	1	2155	c.1971G>A	c.(1969-1971)acG>acA	p.T657T		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN		657	Cadherin 6.				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)			CCACCGCCACGCTGCACTTGC	0.706000													7	52					0	0	1	0	0
OR10J3	441911	broad.mit.edu	37	1	159284097	159284097	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr1:159284097A>G	ENST00000332217.5	-	1	352	c.353T>C	c.(352-354)gTc>gCc	p.V118A		NM_001004467.1	NP_001004467.1	Q5JRS4	O10J3_HUMAN	olfactory receptor, family 10, subfamily J, member 3	118					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)					ATATCCCATGACTGTGAGCAG	0.522000													9	118					0	0	1	0	0
SAMD3	154075	broad.mit.edu	37	6	130505656	130505656	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr6:130505656G>T	ENST00000532763.1	-	5	619	c.490C>A	c.(490-492)Ccg>Acg	p.P164T	SAMD3_ENST00000324172.6_Missense_Mutation_p.P166T|SAMD3_ENST00000368134.2_Missense_Mutation_p.P166T|SAMD3_ENST00000457563.2_Missense_Mutation_p.P190T|SAMD3_ENST00000439090.2_Missense_Mutation_p.P166T|SAMD3_ENST00000437477.2_Missense_Mutation_p.P166T|SAMD3_ENST00000533296.1_5'UTR			Q8N6K7	SAMD3_HUMAN	sterile alpha motif domain containing 3	166										breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(15)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	29				GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128)		CTGTGATCCGGGCACTTCTGC	0.453000													5	57					1.23904e-05	1.31015e-05	1	1	0
CPB1	1360	broad.mit.edu	37	3	148562481	148562481	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr3:148562481G>C	ENST00000491148.1	+	9	1039	c.705G>C	c.(703-705)aaG>aaC	p.K235N	CPB1_ENST00000282957.4_Missense_Mutation_p.K235N			P15086	CBPB1_HUMAN	carboxypeptidase B1 (tissue)	235					proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	38			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			TTTGGAGAAAGACTCGCTCCA	0.438000													7	105					0	0	1	0	0
ATRNL1	26033	broad.mit.edu	37	10	117026389	117026389	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr10:117026389G>A	ENST00000355044.3	+	12	2014	c.1888G>A	c.(1888-1890)Ggg>Agg	p.G630R		NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	630	PSI 1.					integral to membrane	sugar binding	p.G630R(2)		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)		TGCTGGTCCAGGGATAAAATG	0.363000													12	90					0	0	1	0	0
KLF5	688	broad.mit.edu	37	13	73636396	73636396	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr13:73636396C>T	ENST00000377687.4	+	2	1195	c.659C>T	c.(658-660)tCt>tTt	p.S220F	KLF5_ENST00000477333.1_3'UTR|KLF5_ENST00000539231.1_Missense_Mutation_p.S129F	NM_001730.3	NP_001721.2	Q13887	KLF5_HUMAN	Kruppel-like factor 5 (intestinal)	220					transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			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)		CTTCATCTTTCTGTCCCTACC	0.463000													4	93					0	0	1	0	0
ZNF404	342908	broad.mit.edu	37	19	44377405	44377405	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr19:44377405G>A	ENST00000587539.1	-	3	960	c.961C>T	c.(961-963)Cat>Tat	p.H321Y	ZNF404_ENST00000324394.6_Missense_Mutation_p.H319Y	NM_001033719.2	NP_001028891.2	Q494X3	ZN404_HUMAN	zinc finger protein 404	321					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|skin(1)|stomach(2)|urinary_tract(1)	17		Prostate(69;0.0352)				TCACCAGTATGACTTCTTTGA	0.373000													5	50					0	0	1	0	0
SLC22A1	6580	broad.mit.edu	37	6	160555032	160555032	+	Silent	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr6:160555032C>T	ENST00000366963.4	+	4	861	c.714C>T	c.(712-714)atC>atT	p.I238I	SLC22A1_ENST00000324965.4_Silent_p.I238I|SLC22A1_ENST00000457470.2_Silent_p.I238I	NM_003057.2|NM_153187.1	NP_003048.1|NP_694857.1	O15245	S22A1_HUMAN	solute carrier family 22 (organic cation transporter), member 1	238						basolateral plasma membrane|integral to plasma membrane|membrane fraction	organic cation transmembrane transporter activity|protein binding		SLC22A1/CUTA(2)	breast(1)|endometrium(3)|large_intestine(3)|lung(13)|upper_aerodigestive_tract(1)	21		Breast(66;0.000776)|Ovarian(120;0.00556)		OV - Ovarian serous cystadenocarcinoma(65;2.73e-17)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)		CGGTGGCGATCATGTACCAGA	0.632000													5	66					0	0	1	0	0
USP32	84669	broad.mit.edu	37	17	58422944	58422944	+	Silent	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr17:58422944C>T	ENST00000300896.4	-	2	278	c.84G>A	c.(82-84)ctG>ctA	p.L28L	USP32_ENST00000393003.3_Silent_p.L28L	NM_032582.3	NP_115971.2	Q8NFA0	UBP32_HUMAN	ubiquitin specific peptidase 32	28					protein deubiquitination|ubiquitin-dependent protein catabolic process	Golgi apparatus|membrane	calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			AAGCATCCTTCAGTCGTTTTA	0.458000													4	79					0	0	1	0	0
KLF6	1316	broad.mit.edu	37	10	3823941	3823941	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr10:3823941C>T	ENST00000497571.1	-	2	828	c.568G>A	c.(568-570)Gat>Aat	p.D190N	KLF6_ENST00000173785.4_Intron|KLF6_ENST00000542957.1_Missense_Mutation_p.D190N|KLF6_ENST00000469435.1_Missense_Mutation_p.D190N	NM_001160124.1|NM_001300.5	NP_001153596.1|NP_001291.3	Q99612	KLF6_HUMAN	Kruppel-like factor 6	190					B cell differentiation	nucleus	zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				Colorectal(1;0.238)		GGGGAGGCATCGCCATTTCCC	0.627000											OREG0019980	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	57					0	0	1	0	0
SERPINA3	12	broad.mit.edu	37	14	95080900	95080900	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr14:95080900G>A	ENST00000467132.1	+	2	1270	c.122G>A	c.(121-123)cGa>cAa	p.R41Q	SERPINA3_ENST00000393078.3_Missense_Mutation_p.R41Q|RP11-986E7.7_ENST00000553947.1_3'UTR|SERPINA3_ENST00000393080.4_Missense_Mutation_p.R41Q			P01011	AACT_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3	41					acute-phase response|maintenance of gastrointestinal epithelium|regulation of lipid metabolic process|regulation of proteolysis	extracellular region|nucleus	DNA binding|protein binding|serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(17)|ovary(2)|pancreas(1)|skin(3)|stomach(1)	40		all_cancers(154;0.0525)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228)		AACCAAGACCGAGGGACACAC	0.582000													13	123					0	0	1	0	0
MCM7	4176	broad.mit.edu	37	7	99695470	99695470	+	Silent	SNP	C	C	G			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr7:99695470C>G	ENST00000303887.5	-	8	1617	c.972G>C	c.(970-972)ctG>ctC	p.L324L	MCM7_ENST00000343023.6_Silent_p.L324L|MCM7_ENST00000354230.3_Silent_p.L148L	NM_005916.3	NP_005907.3	P33993	MCM7_HUMAN	minichromosome maintenance complex component 7	324					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of phosphorylation|response to DNA damage stimulus|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|protein binding			endometrium(1)|kidney(5)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	17	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)				Atorvastatin(DB01076)	CAATTTGCCTCAGCTCCTCCC	0.493000													10	122					0	0	1	0	0
STON2	85439	broad.mit.edu	37	14	81744768	81744768	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr14:81744768G>A	ENST00000555447.1	-	6	1299	c.887C>T	c.(886-888)tCt>tTt	p.S296F	STON2_ENST00000267540.2_Missense_Mutation_p.S296F	NM_001256430.1	NP_001243359.1	Q8WXE9	STON2_HUMAN	stonin 2	296					endocytosis|intracellular protein transport|regulation of endocytosis	clathrin adaptor complex|nucleolus	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5)	34				BRCA - Breast invasive adenocarcinoma(234;0.0348)		GCGGTTTAAAGAGGAAATATC	0.468000													7	97					0	0	1	0	0
RB1CC1	9821	broad.mit.edu	37	8	53586766	53586766	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr8:53586766C>G	ENST00000025008.5	-	7	1164	c.641G>C	c.(640-642)aGa>aCa	p.R214T	RB1CC1_ENST00000521611.1_Intron|RB1CC1_ENST00000435644.2_Missense_Mutation_p.R214T|RB1CC1_ENST00000539297.1_Missense_Mutation_p.R214T	NM_014781.4	NP_055596.3	Q8TDY2	RBCC1_HUMAN	RB1-inducible coiled-coil 1	214					autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	protein binding			NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				CAAACATTCTCTGTAACTATG	0.398000													9	135					0	0	1	0	0
SPTB	6710	broad.mit.edu	37	14	65220341	65220341	+	Silent	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr14:65220341C>T	ENST00000389722.3	-	32	6569	c.6516G>A	c.(6514-6516)ccG>ccA	p.P2172P	SPTB_ENST00000342835.4_5'UTR|SPTB_ENST00000556626.1_Silent_p.P2172P	NM_001024858.2	NP_001020029.1	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	0					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		CATGGTCCCGCGGGGCCGGCA	0.627000													12	140					0	0	1	0	0
DOCK6	57572	broad.mit.edu	37	19	11323951	11323951	+	Silent	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr19:11323951C>T	ENST00000294618.7	-	35	4403	c.4392G>A	c.(4390-4392)ctG>ctA	p.L1464L	DOCK6_ENST00000319867.7_Silent_p.L803L|CTC-510F12.2_ENST00000588634.1_RNA	NM_020812.3	NP_065863.2	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6	1464					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						GTAGGAGCCTCAGGCACAGGT	0.647000													6	28					0	0	1	0	0
DFNB31	25861	broad.mit.edu	37	9	117188538	117188538	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr9:117188538C>G	ENST00000362057.3	-	4	1287	c.1119G>C	c.(1117-1119)aaG>aaC	p.K373N	DFNB31_ENST00000265134.6_5'UTR	NM_001173425.1|NM_015404.3	NP_001166896.1|NP_056219	Q9P202	WHRN_HUMAN	deafness, autosomal recessive 31	373					inner ear receptor stereocilium organization|retina homeostasis|sensory perception of light stimulus|sensory perception of sound	cytoplasm|growth cone|stereocilium				central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|ovary(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TGGCGATCCACTTGGTCTCGT	0.617000													6	54					0	0	1	0	0
TAF4	6874	broad.mit.edu	37	20	60578285	60578285	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr20:60578285G>A	ENST00000252996.4	-	9	2416	c.2417C>T	c.(2416-2418)tCt>tTt	p.S806F		NM_003185.3	NP_003176.2	O00268	TAF4_HUMAN	TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa						interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(26;1e-08)		BRCA - Breast invasive adenocarcinoma(19;3.1e-07)			CGAGACAGCAGAAAGGGCTTT	0.493000													7	111					0	0	1	0	0
B3GNT5	84002	broad.mit.edu	37	3	182987890	182987890	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr3:182987890G>A	ENST00000326505.3	+	2	834	c.304G>A	c.(304-306)Gat>Aat	p.D102N	B3GNT5_ENST00000460419.1_Missense_Mutation_p.D102N|B3GNT5_ENST00000465010.1_Missense_Mutation_p.D102N|MCF2L2_ENST00000328913.3_Intron|MCF2L2_ENST00000447025.2_Intron|MCF2L2_ENST00000473233.1_Intron	NM_032047.4	NP_114436.1	Q9BYG0	B3GN5_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 5	102					central nervous system development|glycolipid biosynthetic process|protein glycosylation	Golgi membrane|integral to membrane	beta-galactosyl-N-acetylglucosaminylgalactosylglucosyl-ceramide beta-1,3-acetylglucosaminyltransferase activity|galactosyltransferase activity			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	8	all_cancers(143;8.52e-13)|Ovarian(172;0.0355)		all cancers(12;4.52e-44)|Epithelial(37;8.82e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			TGAAAACTATGATCGACGTTC	0.438000													5	67					0	0	1	0	0
PTPRK	5796	broad.mit.edu	37	6	128326289	128326289	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr6:128326289G>C	ENST00000368227.3	-	15	2800	c.2434C>G	c.(2434-2436)Ctg>Gtg	p.L812V	PTPRK_ENST00000368215.3_Missense_Mutation_p.L811V|PTPRK_ENST00000368210.3_Missense_Mutation_p.L812V|PTPRK_ENST00000368213.5_Missense_Mutation_p.L812V|PTPRK_ENST00000524481.1_5'UTR|PTPRK_ENST00000368226.4_Missense_Mutation_p.L812V|PTPRK_ENST00000368207.3_Missense_Mutation_p.L822V|PTPRK_ENST00000532331.1_Missense_Mutation_p.L812V			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	811					cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		TCTGCATGCAGAGTGCTCTGA	0.393000													7	54					0	0	1	0	0
FMO3	2328	broad.mit.edu	37	1	171080103	171080103	+	Silent	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr1:171080103C>T	ENST00000367755.4	+	6	903	c.792C>T	c.(790-792)ttC>ttT	p.F264F	FMO3_ENST00000538429.1_Silent_p.F201F|FMO3_ENST00000542847.1_Silent_p.F244F|FMO3_ENST00000392085.2_Silent_p.F264F	NM_001002294.2	NP_001002294.1	P31513	FMO3_HUMAN	flavin containing monooxygenase 3	264					xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity			endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2)	31	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					ATGCAAGATTCAAGCATGAAA	0.443000													6	100					0	0	1	0	0
ZNF528	84436	broad.mit.edu	37	19	52909217	52909217	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr19:52909217C>A	ENST00000391788.2	+	5	566	c.43C>A	c.(43-45)Ctg>Atg	p.L15M	ZNF528_ENST00000598192.1_Missense_Mutation_p.L25M|ZNF528_ENST00000360465.3_Missense_Mutation_p.L25M|ZNF528_ENST00000594530.1_Missense_Mutation_p.L25M			Q3MIS6	ZN528_HUMAN	zinc finger protein 528	25	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(6)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	39				GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817)		GTGGAAATGCCTGGACCCTGC	0.488000													42	145					8.69298e-16	9.59225e-16	1	1	0
SSTR3	6753	broad.mit.edu	37	22	37603237	37603237	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr22:37603237C>T	ENST00000328544.3	-	2	1139	c.606G>A	c.(604-606)tgG>tgA	p.W202*	SSTR3_ENST00000402501.1_Nonsense_Mutation_p.W202*	NM_001051.3	NP_001042.1	P32745	SSR3_HUMAN	somatostatin receptor 3	202					G-protein signaling, coupled to cyclic nucleotide second messenger|induction of apoptosis by hormones|negative regulation of cell proliferation	integral to plasma membrane|nonmotile primary cilium	somatostatin receptor activity			NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)	14						AGCCGGCTCGCCAGGCCGCCG	0.682000													3	16					0	0	1	0	0
RMDN1	51115	broad.mit.edu	37	8	87486543	87486543	+	Silent	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr8:87486543C>T	ENST00000406452.3	-	10	1098	c.939G>A	c.(937-939)aaG>aaA	p.K313K	RMDN1_ENST00000523911.1_Intron|RMDN1_ENST00000519966.1_Silent_p.K270K|RMDN1_ENST00000430676.2_Silent_p.K283K	NM_016033.2	NP_057117.2			regulator of microtubule dynamics 1																		GTTCTCAATTCTTCTCACTGA	0.308000													9	100					0	0	1	0	0
JAKMIP3	282973	broad.mit.edu	37	10	133978214	133978214	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr10:133978214G>C	ENST00000298622.4	+	20	2597	c.2459G>C	c.(2458-2460)aGa>aCa	p.R820T	JAKMIP3_ENST00000477275.1_3'UTR	NM_001105521.2	NP_001098991.1			Janus kinase and microtubule interacting protein 3											breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	31		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)		GCTCAGAAGAGACAAATAAAG	0.418000													3	26					0	0	1	0	0
C1orf111	284680	broad.mit.edu	37	1	162343919	162343919	+	Silent	SNP	G	G	A	rs144886006		TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr1:162343919G>A	ENST00000367935.5	-	3	784	c.705C>T	c.(703-705)ctC>ctT	p.L235L	RP11-565P22.6_ENST00000431696.1_Intron	NM_182581.3	NP_872387.2	Q5T0L3	CA111_HUMAN	chromosome 1 open reading frame 111											central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)	11	all_hematologic(112;0.15)		BRCA - Breast invasive adenocarcinoma(70;0.0938)			TGCCGGAGGAGAGCCTGTCTC	0.552000													10	243					0	0	1	0	0
B3GNT5	84002	broad.mit.edu	37	3	182988310	182988310	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr3:182988310G>A	ENST00000326505.3	+	2	1254	c.724G>A	c.(724-726)Gaa>Aaa	p.E242K	B3GNT5_ENST00000460419.1_Missense_Mutation_p.E242K|B3GNT5_ENST00000465010.1_Missense_Mutation_p.E242K|MCF2L2_ENST00000328913.3_Intron|MCF2L2_ENST00000447025.2_Intron|MCF2L2_ENST00000473233.1_Intron	NM_032047.4	NP_114436.1	Q9BYG0	B3GN5_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 5	242					central nervous system development|glycolipid biosynthetic process|protein glycosylation	Golgi membrane|integral to membrane	beta-galactosyl-N-acetylglucosaminylgalactosylglucosyl-ceramide beta-1,3-acetylglucosaminyltransferase activity|galactosyltransferase activity			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	8	all_cancers(143;8.52e-13)|Ovarian(172;0.0355)		all cancers(12;4.52e-44)|Epithelial(37;8.82e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			CGTGTCCTATGAAATGTACCA	0.463000													5	88					0	0	1	0	0
TPST1	8460	broad.mit.edu	37	7	65705934	65705934	+	Silent	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr7:65705934C>T	ENST00000304842.5	+	2	947	c.522C>T	c.(520-522)ttC>ttT	p.F174F	TPST1_ENST00000480281.1_Intron	NM_003596.3	NP_003587.1	O60507	TPST1_HUMAN	tyrosylprotein sulfotransferase 1	174					inflammatory response|peptidyl-tyrosine sulfation	Golgi membrane|integral to membrane|membrane fraction	protein-tyrosine sulfotransferase activity			NS(1)|biliary_tract(1)|breast(1)|kidney(3)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11						CTAGGTTATTCCCCAATGCCA	0.398000													5	68					0	0	1	0	0
ABCB7	22	broad.mit.edu	37	X	74291394	74291394	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chrX:74291394C>A	ENST00000253577.3	-	9	1184	c.1160G>T	c.(1159-1161)aGt>aTt	p.S387I	ABCB7_ENST00000339447.4_Missense_Mutation_p.S346I|ABCB7_ENST00000373394.3_Missense_Mutation_p.S386I|ABCB7_ENST00000534570.1_5'UTR	NM_001271696.1|NM_004299.3	NP_001258625.1|NP_004290.2	O75027	ABCB7_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 7	386	ABC transmembrane type-1.				cellular iron ion homeostasis	integral to membrane|mitochondrial inner membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|heme transporter activity			breast(1)|endometrium(5)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)	20						TAAACCGACACTGAAAATAGC	0.408000													4	63					0.00909568	0.00929441	1	1	0
B3GNT5	84002	broad.mit.edu	37	3	182988588	182988588	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr3:182988588G>C	ENST00000326505.3	+	2	1532	c.1002G>C	c.(1000-1002)aaG>aaC	p.K334N	B3GNT5_ENST00000460419.1_Missense_Mutation_p.K334N|B3GNT5_ENST00000465010.1_Missense_Mutation_p.K334N|MCF2L2_ENST00000328913.3_Intron|MCF2L2_ENST00000447025.2_Intron|MCF2L2_ENST00000473233.1_Intron	NM_032047.4	NP_114436.1	Q9BYG0	B3GN5_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 5	334					central nervous system development|glycolipid biosynthetic process|protein glycosylation	Golgi membrane|integral to membrane	beta-galactosyl-N-acetylglucosaminylgalactosylglucosyl-ceramide beta-1,3-acetylglucosaminyltransferase activity|galactosyltransferase activity			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	8	all_cancers(143;8.52e-13)|Ovarian(172;0.0355)		all cancers(12;4.52e-44)|Epithelial(37;8.82e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			ACCTTTGGAAGAATGCTACAG	0.343000													4	33					0	0	1	0	0
NFIC	4782	broad.mit.edu	37	19	3382105	3382105	+	Silent	SNP	G	G	A	rs146650773	by1000genomes	TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr19:3382105G>A	ENST00000589123.1	+	2	519	c.399G>A	c.(397-399)ccG>ccA	p.P133P	NFIC_ENST00000346156.5_Silent_p.P133P|NFIC_ENST00000395111.3_Silent_p.P133P|NFIC_ENST00000590282.1_Silent_p.P142P|NFIC_ENST00000341919.3_Silent_p.P142P|NFIC_ENST00000586919.1_Silent_p.P133P|NFIC_ENST00000443272.2_Silent_p.P142P	NM_001245005.1|NM_205843.2	NP_001231934.1|NP_995315.1	P08651	NFIC_HUMAN	nuclear factor I/C (CCAAT-binding transcription factor)	142					DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;7.8e-05)|Epithelial(107;2.94e-108)|BRCA - Breast invasive adenocarcinoma(158;0.00154)|STAD - Stomach adenocarcinoma(1328;0.191)		AGGGCATCCCGCTGGAGAGCA	0.672000													4	130					0	0	1	0	0
CNTN6	27255	broad.mit.edu	37	3	1367618	1367618	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr3:1367618G>A	ENST00000446702.2	+	9	1693	c.1066G>A	c.(1066-1068)Gaa>Aaa	p.E356K	CNTN6_ENST00000350110.2_Missense_Mutation_p.E356K|CNTN6_ENST00000539053.1_Missense_Mutation_p.E284K			Q9UQ52	CNTN6_HUMAN	contactin 6	356	Ig-like C2-type 4.				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		AAAAAATGGTGAACGACTCAA	0.358000													3	56					0	0	1	0	0
SI	6476	broad.mit.edu	37	3	164724636	164724636	+	Silent	SNP	G	G	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr3:164724636G>T	ENST00000264382.3	-	37	4436	c.4374C>A	c.(4372-4374)ctC>ctA	p.L1458L		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1458	Sucrase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	ACCATCCATAGAGATTGTGAA	0.348000										HNSCC(35;0.089)			5	58					0.00116845	0.00120206	1	1	0
HTR1A	3350	broad.mit.edu	37	5	63257013	63257013	+	Silent	SNP	C	C	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr5:63257013C>A	ENST00000323865.3	-	1	767	c.534G>T	c.(532-534)ccG>ccT	p.P178P	RP11-158J3.2_ENST00000502882.1_RNA	NM_000524.3	NP_000515.2	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled	178					behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity			cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	AGCGGTCTTCCGGGGTGCGCC	0.597000													29	143					2.51541e-25	2.80618e-25	1	1	0
OR5K1	26339	broad.mit.edu	37	3	98189002	98189002	+	Silent	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr3:98189002C>T	ENST00000332650.5	+	1	679	c.582C>T	c.(580-582)atC>atT	p.I194I		NM_001004736.2	NP_001004736.2	Q8NHB7	OR5K1_HUMAN	olfactory receptor, family 5, subfamily K, member 1	194					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(4)|lung(21)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						ATCCTTATATCAATGAACTGG	0.333000													14	159					0	0	1	0	0
SAMD3	154075	broad.mit.edu	37	6	130505642	130505642	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr6:130505642C>A	ENST00000532763.1	-	5	633	c.504G>T	c.(502-504)atG>atT	p.M168I	SAMD3_ENST00000324172.6_Missense_Mutation_p.M170I|SAMD3_ENST00000368134.2_Missense_Mutation_p.M170I|SAMD3_ENST00000457563.2_Missense_Mutation_p.M194I|SAMD3_ENST00000439090.2_Missense_Mutation_p.M170I|SAMD3_ENST00000437477.2_Missense_Mutation_p.M170I|SAMD3_ENST00000533296.1_5'UTR			Q8N6K7	SAMD3_HUMAN	sterile alpha motif domain containing 3	170										breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(15)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	29				GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128)		TCCTTATCCTCATGCTGTGAT	0.468000													8	54					0.000274275	0.000284572	1	1	0
HMCN1	83872	broad.mit.edu	37	1	185969231	185969231	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr1:185969231G>A	ENST00000271588.4	+	26	4158	c.3929G>A	c.(3928-3930)aGa>aAa	p.R1310K	HMCN1_ENST00000367492.2_Missense_Mutation_p.R1310K	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	1310	Ig-like C2-type 10.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TTGACAGGCAGAGAGCCTGGC	0.398000													12	81					0	0	1	0	0
TBC1D1	23216	broad.mit.edu	37	4	38037247	38037247	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr4:38037247G>C	ENST00000261439.4	+	8	1696	c.1341G>C	c.(1339-1341)ttG>ttC	p.L447F	TBC1D1_ENST00000508802.1_Missense_Mutation_p.L447F	NM_001253914.1|NM_001253915.1|NM_015173.3	NP_001240843.1|NP_001240844.1|NP_055988.2	Q86TI0	TBCD1_HUMAN	TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1	447						nucleus	Rab GTPase activator activity			NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						AGAATGAATTGATTATTTCTT	0.333000													8	36					0	0	1	0	0
RNF31	55072	broad.mit.edu	37	14	24617902	24617902	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr14:24617902G>A	ENST00000324103.6	+	4	867	c.547G>A	c.(547-549)Gaa>Aaa	p.E183K	RNF31_ENST00000557878.1_3'UTR|RNF31_ENST00000382687.3_Missense_Mutation_p.E32K|RNF31_ENST00000559275.1_Missense_Mutation_p.E32K	NM_017999.4	NP_060469.4	Q96EP0	RNF31_HUMAN	ring finger protein 31	183	Polyubiquitin-binding.				CD40 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein linear polyubiquitination|T cell receptor signaling pathway	CD40 receptor complex|internal side of plasma membrane|LUBAC complex	ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(4)|skin(2)|soft_tissue(1)	39				GBM - Glioblastoma multiforme(265;0.00861)		AGACAAGGTTGAAGATGATGT	0.453000													6	71					0	0	1	0	0
TTI1	9675	broad.mit.edu	37	20	36641489	36641489	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr20:36641489T>C	ENST00000373448.2	-	3	968	c.730A>G	c.(730-732)Agc>Ggc	p.S244G	TTI1_ENST00000487362.1_Intron|TTI1_ENST00000373447.3_Missense_Mutation_p.S244G|TTI1_ENST00000449821.1_Missense_Mutation_p.S244G	NM_014657.1	NP_055472.1	O43156	TTI1_HUMAN	TELO2 interacting protein 1	244							binding			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	47						ATAATGAAGCTCACTGTCTTG	0.443000													12	150					0	0	1	0	0
CENPJ	55835	broad.mit.edu	37	13	25473722	25473722	+	Splice_Site	SNP	C	C	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr13:25473722C>A	ENST00000381884.4	-	9	3011	c.2826G>T	c.(2824-2826)agG>agT	p.R942S	CENPJ_ENST00000545981.1_Splice_Site_p.R942S	NM_018451.4	NP_060921.3	Q9HC77	CENPJ_HUMAN	centromere protein J	942					cell division|centriole replication|G2/M transition of mitotic cell cycle|microtubule nucleation|microtubule polymerization	centriole|cytosol|gamma-tubulin small complex|microtubule	protein domain specific binding|tubulin binding			endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)		CAATTTCTTTCCTAAAATGAC	0.403000													7	29					0.000442599	0.000457654	1	1	0
AOX1	316	broad.mit.edu	37	2	201505863	201505863	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr2:201505863G>C	ENST00000374700.2	+	24	2852	c.2611G>C	c.(2611-2613)Gag>Cag	p.E871Q	AOX1_ENST00000485106.1_3'UTR	NM_001159.3	NP_001150.3	Q06278	ADO_HUMAN	aldehyde oxidase 1	871					inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity			breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	CCTGGACATGGAGCATTACAG	0.443000													3	45					0	0	1	0	0
VANGL2	57216	broad.mit.edu	37	1	160388962	160388962	+	Silent	SNP	C	C	G			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr1:160388962C>G	ENST00000368061.2	+	4	837	c.363C>G	c.(361-363)ctC>ctG	p.L121L		NM_020335.2	NP_065068.1	Q9ULK5	VANG2_HUMAN	VANGL planar cell polarity protein 2	121					apical protein localization|heart looping|nonmotile primary cilium assembly	apical plasma membrane|integral to membrane				biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	37	all_cancers(52;1.08e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TGTCTTTCCTCACGCCTCTGG	0.662000													6	110					0	0	1	0	0
GC	2638	broad.mit.edu	37	4	72623791	72623791	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr4:72623791C>T	ENST00000273951.8	-	7	1142	c.799G>A	c.(799-801)Gag>Aag	p.E267K	GC_ENST00000503472.1_5'UTR|GC_ENST00000513476.1_Missense_Mutation_p.E267K|GC_ENST00000504199.1_Missense_Mutation_p.E286K	NM_000583.3|NM_001204306.1	NP_000574.2|NP_001191235.1	P02774	VTDB_HUMAN	group-specific component (vitamin D binding protein)	267	Albumin 2.				hormone biosynthetic process|vitamin D metabolic process	cytosol|lysosomal lumen	actin binding|vitamin D binding|vitamin transporter activity			endometrium(5)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	45		all_hematologic(202;0.107)	Lung(101;0.148)		Cholecalciferol(DB00169)	GAGGCAGACTCACAGCATTTG	0.433000													13	77					0	0	1	0	0
AHR	196	broad.mit.edu	37	7	17382607	17382607	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr7:17382607G>C	ENST00000242057.4	+	11	3109	c.2466G>C	c.(2464-2466)caG>caC	p.Q822H		NM_001621.4	NP_001612.1	P35869	AHR_HUMAN	aryl hydrocarbon receptor	822				LNETYPAELNNINNTQTTTHLQPLHHPSEARPFPDLTSSGF L -> FK (in Ref. 1; BAA03857).	apoptosis|blood vessel development|cell cycle|regulation of B cell proliferation|response to stress|transcription from RNA polymerase II promoter|xenobiotic metabolic process	cytosolic aryl hydrocarbon receptor complex|transcription factor complex	Hsp90 protein binding|ligand-dependent nuclear receptor activity|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|urinary_tract(3)	33	Lung NSC(10;0.0392)|all_lung(11;0.0754)					ATAACACTCAGACTACCACAC	0.368000													45	149					0	0	1	0	0
FAM208B	54906	broad.mit.edu	37	10	5791660	5791660	+	Silent	SNP	C	C	G			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr10:5791660C>G	ENST00000328090.5	+	15	6901	c.6276C>G	c.(6274-6276)ctC>ctG	p.L2092L		NM_017782.4	NP_060252	Q5VWN6	CJ018_HUMAN	family with sequence similarity 208, member B	2092																	CATTCCACCTCAACAAACTGA	0.383000													4	37					0	0	1	0	0
SBF1	6305	broad.mit.edu	37	22	50898430	50898430	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr22:50898430C>G	ENST00000380817.3	-	26	3625	c.3442G>C	c.(3442-3444)Gag>Cag	p.E1148Q	SBF1_ENST00000390679.3_Missense_Mutation_p.E1148Q|SBF1_ENST00000348911.6_Missense_Mutation_p.E1149Q	NM_002972.2	NP_002963.2	O95248	MTMR5_HUMAN	SET binding factor 1		Myotubularin phosphatase.				protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		CGGAAGGGCTCAGACTTGGCC	0.662000													7	63					0	0	1	0	0
GALR2	8811	broad.mit.edu	37	17	74073117	74073117	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr17:74073117C>T	ENST00000329003.3	+	2	859	c.769C>T	c.(769-771)Ctc>Ttc	p.L257F		NM_003857.2	NP_003848.1	O43603	GALR2_HUMAN	galanin receptor 2	257					digestion|elevation of cytosolic calcium ion concentration|feeding behavior|learning or memory|muscle contraction	integral to membrane|plasma membrane	galanin receptor activity			cervix(1)|lung(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						CGCGCTCATCCTCTGCGTGTG	0.662000													4	42					0	0	1	0	0
TXNDC11	51061	broad.mit.edu	37	16	11792094	11792094	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr16:11792094G>A	ENST00000356957.3	-	8	1182	c.1075C>T	c.(1075-1077)Cgg>Tgg	p.R359W	TXNDC11_ENST00000283033.5_Missense_Mutation_p.R332W			Q6PKC3	TXD11_HUMAN	thioredoxin domain containing 11	359					cell redox homeostasis	endoplasmic reticulum membrane|integral to membrane				endometrium(3)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						CCGTGTGGCCGCAGCCACCGA	0.527000													3	75					0	0	1	0	0
MARCH7	64844	broad.mit.edu	37	2	160604796	160604796	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr2:160604796C>G	ENST00000259050.4	+	5	1117	c.995C>G	c.(994-996)tCa>tGa	p.S332*	MARCH7_ENST00000409591.1_Nonsense_Mutation_p.S294*|MARCH7_ENST00000409175.1_Nonsense_Mutation_p.S332*|MARCH7_ENST00000539065.1_Nonsense_Mutation_p.S276*	NM_001282805.1|NM_001282807.1|NM_022826.2	NP_001269734.1|NP_001269736.1|NP_073737.1	Q9H992	MARH7_HUMAN	membrane-associated ring finger (C3HC4) 7, E3 ubiquitin protein ligase		Ser-rich.						ligase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(2)	18						AATGTACCATCAGCTTCTGAA	0.413000													3	39					0	0	1	0	0
GUCA1C	9626	broad.mit.edu	37	3	108626914	108626914	+	Silent	SNP	G	G	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr3:108626914G>T	ENST00000261047.3	-	4	717	c.585C>A	c.(583-585)tcC>tcA	p.S195S	GUCA1C_ENST00000393963.3_3'UTR	NM_005459.3	NP_005450.3	O95843	GUC1C_HUMAN	guanylate cyclase activator 1C	195					signal transduction|visual perception		calcium ion binding|calcium sensitive guanylate cyclase activator activity			endometrium(2)|large_intestine(1)|liver(1)|lung(8)|pancreas(1)|skin(1)	14						CAGGAGATTTGGAGGAGTCTG	0.453000													7	38					7.03913e-09	7.65615e-09	1	1	0
KIAA0430	9665	broad.mit.edu	37	16	15706612	15706612	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr16:15706612C>G	ENST00000396368.3	-	17	3482	c.3276G>C	c.(3274-3276)aaG>aaC	p.K1092N	KIAA0430_ENST00000602337.1_Missense_Mutation_p.K1089N|KIAA0430_ENST00000344181.3_Missense_Mutation_p.K694N|KIAA0430_ENST00000551742.1_Missense_Mutation_p.K1092N|KIAA0430_ENST00000540441.2_Missense_Mutation_p.K927N|KIAA0430_ENST00000548025.1_Missense_Mutation_p.K1089N	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	LKAP_HUMAN	KIAA0430	1091						peroxisome	nucleotide binding|RNA binding			breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						CTACAGGACTCTTCGAACGCA	0.468000													14	137					0	0	1	0	0
ECM1	1893	broad.mit.edu	37	1	150483939	150483939	+	Missense_Mutation	SNP	G	G	A	rs149230481		TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr1:150483939G>A	ENST00000369047.4	+	7	840	c.715G>A	c.(715-717)Gaa>Aaa	p.E239K	ECM1_ENST00000369049.4_Missense_Mutation_p.E266K|ECM1_ENST00000470432.1_3'UTR|ECM1_ENST00000346569.6_Intron	NM_004425.3	NP_004416.2	Q16610	ECM1_HUMAN	extracellular matrix protein 1	239	2 X approximate repeats.				angiogenesis|biomineral tissue development|negative regulation of bone mineralization|negative regulation of peptidase activity|ossification|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of I-kappaB kinase/NF-kappaB cascade	proteinaceous extracellular matrix	laminin binding|protease binding|protein C-terminus binding|signal transducer activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|urinary_tract(1)	22	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.29e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			CTAGTGGGAGGAAGCAATGAG	0.597000													26	177					0	0	1	0	0
OR4C6	219432	broad.mit.edu	37	11	55432656	55432656	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr11:55432656A>G	ENST00000314259.3	+	1	43	c.14A>G	c.(13-15)aAc>aGc	p.N5S		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	5					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						GAAAATCAAAACAATGTGACT	0.373000													12	80					0	0	1	0	0
INTS3	65123	broad.mit.edu	37	1	153701160	153701160	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr1:153701160G>T	ENST00000318967.2	+	1	618	c.50G>T	c.(49-51)gGa>gTa	p.G17V	INTS3_ENST00000435409.2_Missense_Mutation_p.G17V|INTS3_ENST00000456435.1_5'UTR	NM_023015.3	NP_075391.3	Q68E01	INT3_HUMAN	integrator complex subunit 3	17	Ala/Gly-rich.				DNA repair|G2/M transition checkpoint|response to ionizing radiation|snRNA processing	integrator complex|SOSS complex	protein binding			breast(1)|cervix(4)|endometrium(10)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	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)			GCTGCTTCGggagcagcggga	0.622000													8	47					1.58986e-06	1.70784e-06	1	1	0
UVSSA	57654	broad.mit.edu	37	4	1347046	1347046	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr4:1347046C>T	ENST00000389851.4	+	5	1226	c.779C>T	c.(778-780)tCt>tTt	p.S260F	UVSSA_ENST00000511216.1_Missense_Mutation_p.S260F|UVSSA_ENST00000507531.1_Missense_Mutation_p.S260F	NM_020894.2	NP_065945.2	Q2YD98	K1530_HUMAN	UV-stimulated scaffold protein A	260																	CTGCCTGCCTCTGCAGGCCAC	0.706000													3	17					0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141752666	141752666	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr7:141752666G>A	ENST00000475668.2	+	26	3095	c.3041G>A	c.(3040-3042)gGg>gAg	p.G1014E	MGAM_ENST00000549489.2_Missense_Mutation_p.G1014E			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1014					polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	AATTCCCATGGGGCCACAGCT	0.463000													21	103					0	0	1	0	0
FAM135B	51059	broad.mit.edu	37	8	139278012	139278012	+	Silent	SNP	C	C	G			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr8:139278012C>G	ENST00000395297.1	-	4	401	c.231G>C	c.(229-231)cgG>cgC	p.R77R		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	77										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)			CCTCTTCATTCCGGTATAAGA	0.493000										HNSCC(54;0.14)			6	74					0	0	1	0	0
COL11A2	1302	broad.mit.edu	37	6	33146477	33146477	+	Silent	SNP	G	G	A	rs139350991		TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr6:33146477G>A	ENST00000341947.2	-	18	1925	c.1698C>T	c.(1696-1698)ctC>ctT	p.L566L	COL11A2_ENST00000374714.1_Silent_p.L540L|COL11A2_ENST00000361917.1_Silent_p.L459L|COL11A2_ENST00000357486.1_Silent_p.L545L|COL11A2_ENST00000374712.1_Silent_p.L485L|COL11A2_ENST00000374708.4_Silent_p.L480L|COL11A2_ENST00000374713.1_Silent_p.L519L|COL11A2_ENST00000395197.1_Silent_p.L506L	NM_080680.2	NP_542411.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	566	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						TCTCTCCAGGGAGCCCTGGGA	0.562000													10	194					0	0	1	0	0
HAL	3034	broad.mit.edu	37	12	96389601	96389601	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr12:96389601C>T	ENST00000261208.3	-	2	456	c.88G>A	c.(88-90)Gag>Aag	p.E30K	HAL_ENST00000541929.1_5'UTR|HAL_ENST00000538703.1_Missense_Mutation_p.E30K	NM_002108.3	NP_002099.1	P42357	HUTH_HUMAN	histidine ammonia-lyase	30					biosynthetic process|histidine catabolic process	cytosol	histidine ammonia-lyase activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	34					L-Histidine(DB00117)	CTCACGGCCTCCCGGCCCAGC	0.652000													7	33					0	0	1	0	0
HSPA4L	22824	broad.mit.edu	37	4	128722376	128722376	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr4:128722376G>A	ENST00000296464.4	+	5	924	c.513G>A	c.(511-513)atG>atA	p.M171I	HSPA4L_ENST00000439123.2_Missense_Mutation_p.M202I|HSPA4L_ENST00000508776.1_Missense_Mutation_p.M171I|HSPA4L_ENST00000505726.1_Missense_Mutation_p.M145I	NM_014278.2	NP_055093.2	O95757	HS74L_HUMAN	heat shock 70kDa protein 4-like						protein folding|response to unfolded protein	cytoplasm|nucleus	ATP binding|protein binding			central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						TAAGGTTGATGAATGAAACTA	0.328000													8	34					0	0	1	0	0
APEH	327	broad.mit.edu	37	3	49716346	49716346	+	Silent	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr3:49716346G>A	ENST00000296456.5	+	12	1522	c.1122G>A	c.(1120-1122)caG>caA	p.Q374Q	APEH_ENST00000438011.1_Silent_p.Q374Q	NM_001640.3	NP_001631.3	P13798	ACPH_HUMAN	acylaminoacyl-peptide hydrolase	374					proteolysis	cytoplasm|nuclear membrane	serine-type endopeptidase activity			endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		CTGACAGCCAGAGAGTGGTCT	0.602000													7	91					0	0	1	0	0
WDR19	57728	broad.mit.edu	37	4	39254832	39254832	+	Silent	SNP	G	G	C			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr4:39254832G>C	ENST00000399820.3	+	25	2950	c.2796G>C	c.(2794-2796)ctG>ctC	p.L932L	WDR19_ENST00000288634.7_Silent_p.L772L	NM_025132.3	NP_079408.3	Q8NEZ3	WDR19_HUMAN	WD repeat domain 19	932					cell projection organization	microtubule basal body|motile cilium|photoreceptor connecting cilium	binding			large_intestine(1)	1						GCATCTATCTGGATCACCTCA	0.348000													8	56					0	0	1	0	0
OR6N2	81442	broad.mit.edu	37	1	158747170	158747170	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr1:158747170G>A	ENST00000339258.1	-	1	255	c.256C>T	c.(256-258)Ctc>Ttc	p.L86F		NM_001005278.1	NP_001005278.1	Q8NGY6	OR6N2_HUMAN	olfactory receptor, family 6, subfamily N, member 2	86					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(6)|lung(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_hematologic(112;0.0378)					TTCTCACTGAGAATATTAGAC	0.453000													9	146					0	0	1	0	0
REV3L	5980	broad.mit.edu	37	6	111702567	111702567	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr6:111702567G>A	ENST00000435970.1	-	12	1759	c.943C>T	c.(943-945)Cag>Tag	p.Q315*	REV3L_ENST00000358835.3_Nonsense_Mutation_p.Q393*|REV3L_ENST00000368805.1_Nonsense_Mutation_p.Q393*|REV3L_ENST00000368802.3_Nonsense_Mutation_p.Q393*			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	393					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		GTCAAAGGCTGAAAAGTCTGA	0.343000								DNA polymerases (catalytic subunits)					5	75					0	0	1	0	0
TMTC1	83857	broad.mit.edu	37	12	29736357	29736357	+	Silent	SNP	T	T	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr12:29736357T>A	ENST00000256062.5	-	8	1550	c.1077A>T	c.(1075-1077)tcA>tcT	p.S359S	TMTC1_ENST00000381224.2_Silent_p.S421S|TMTC1_ENST00000552618.1_Silent_p.S529S|TMTC1_ENST00000551659.1_Silent_p.S529S|TMTC1_ENST00000319685.8_5'UTR|TMTC1_ENST00000539277.1_Silent_p.S467S	NM_175861.3	NP_787057.2	Q8IUR5	TMTC1_HUMAN	transmembrane and tetratricopeptide repeat containing 1	467						integral to membrane	binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)					GGGACTCTCTTGACAGCCAAA	0.398000													4	55					0	0	1	0	0
MYO16	23026	broad.mit.edu	37	13	109661365	109661365	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr13:109661365A>G	ENST00000356711.2	+	22	2623	c.2497A>G	c.(2497-2499)Aac>Gac	p.N833D	MYO16_ENST00000457511.2_Missense_Mutation_p.N345D|MYO16_ENST00000251041.5_Missense_Mutation_p.N833D|MYO16_ENST00000357550.2_Missense_Mutation_p.N833D	NM_015011.1	NP_055826.1	Q9Y6X6	MYO16_HUMAN	myosin XVI	833					cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity			NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			TTCTCCTGGTAACCAGAATGG	0.353000													11	128					0	0	1	0	0
EFCAB12	90288	broad.mit.edu	37	3	129127548	129127548	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr3:129127548G>A	ENST00000505956.1	-	6	1351	c.1189C>T	c.(1189-1191)Caa>Taa	p.Q397*	EFCAB12_ENST00000326085.3_Nonsense_Mutation_p.Q397*	NM_207307.1	NP_997190.1			EF-hand calcium binding domain 12																		TTCCAGCATTGCAGGTAGACC	0.572000													3	6					0	0	1	0	0
DGKZ	8525	broad.mit.edu	37	11	46394037	46394037	+	Silent	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr11:46394037G>A	ENST00000454345.1	+	12	1676	c.1551G>A	c.(1549-1551)ctG>ctA	p.L517L	DGKZ_ENST00000343674.6_Silent_p.L345L|DGKZ_ENST00000527911.1_Silent_p.L329L|DGKZ_ENST00000543978.1_Intron|DGKZ_ENST00000456247.2_Silent_p.L328L|DGKZ_ENST00000395574.3_Silent_p.L295L|DGKZ_ENST00000318201.8_Silent_p.L306L|DGKZ_ENST00000528615.1_Silent_p.L107L|DGKZ_ENST00000532868.2_Silent_p.L333L|DGKZ_ENST00000421244.2_Silent_p.L329L	NM_001105540.1	NP_001099010.1	Q13574	DGKZ_HUMAN	diacylglycerol kinase, zeta	517	DAGKc.|Mediates interaction with RASGRP1.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell migration|intracellular signal transduction|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of mitotic cell cycle|platelet activation	cytoplasm|lamellipodium|nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|lipid kinase activity|metal ion binding|protein binding|protein C-terminus binding			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|pancreas(1)|prostate(1)|skin(1)	25				GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141)		TCTTCGACCTGAGCCAGGGAG	0.577000													8	90					0	0	1	0	0
PTGFRN	5738	broad.mit.edu	37	1	117504176	117504176	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr1:117504176G>C	ENST00000393203.2	+	5	1672	c.1525G>C	c.(1525-1527)Gac>Cac	p.D509H		NM_020440.2	NP_065173.2	Q9P2B2	FPRP_HUMAN	prostaglandin F2 receptor inhibitor	509	Ig-like C2-type 4.					endoplasmic reticulum membrane|Golgi apparatus|integral to membrane	protein binding			NS(1)|breast(1)|endometrium(4)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)	46	Lung SC(450;0.225)	all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446)		Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248)		TACAGAGGAAGACAGAGGCAA	0.463000													6	89					0	0	1	0	0
CCDC64	92558	broad.mit.edu	37	12	120510439	120510439	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr12:120510439C>T	ENST00000397558.2	+	6	1214	c.1214C>T	c.(1213-1215)tCg>tTg	p.S405L	CCDC64_ENST00000446727.2_Intron|CCDC64_ENST00000257583.4_Missense_Mutation_p.S54L	NM_207311.2	NP_997194.2	Q6ZP65	BICR1_HUMAN	coiled-coil domain containing 64	405					Golgi to secretory granule transport|neuron projection development	centrosome	dynactin binding|Rab GTPase binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	22	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TCAGAAACCTCGTCCGCCAAG	0.567000													8	62					0	0	1	0	0
SOX8	30812	broad.mit.edu	37	16	1035195	1035195	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr16:1035195G>A	ENST00000293894.3	+	3	1265	c.1150G>A	c.(1150-1152)Ggc>Agc	p.G384S		NM_014587.3	NP_055402.2	P57073	SOX8_HUMAN	SRY (sex determining region Y)-box 8	384					adipose tissue development|enteric nervous system development|fat cell differentiation|in utero embryonic development|metanephric nephron tubule formation|morphogenesis of a branching epithelium|negative regulation of apoptosis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|neural crest cell migration|oligodendrocyte differentiation|osteoblast differentiation|peripheral nervous system development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of gliogenesis|positive regulation of osteoblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone levels|renal vesicle induction|retinal rod cell differentiation|Sertoli cell development|signal transduction|spermatogenesis|ureter morphogenesis	cytoplasm|nucleus				central_nervous_system(1)|kidney(1)|lung(5)|prostate(2)|skin(1)	10		Hepatocellular(780;0.00308)				GGGCGACTATGGCGACCTGCA	0.731000													5	15					0	0	1	0	0
CLEC4F	165530	broad.mit.edu	37	2	71043444	71043444	+	Missense_Mutation	SNP	T	T	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr2:71043444T>A	ENST00000272367.2	-	4	1145	c.1069A>T	c.(1069-1071)Act>Tct	p.T357S	CLEC4F_ENST00000426626.1_Missense_Mutation_p.T357S	NM_001258027.1|NM_173535.2	NP_001244956.1|NP_775806.2	Q8N1N0	CLC4F_HUMAN	C-type lectin domain family 4, member F	357					endocytosis	integral to membrane	receptor activity|sugar binding			endometrium(1)|large_intestine(5)|lung(18)|ovary(5)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	37						TGAATCTGAGTATCTGTCTGG	0.408000													7	72					0	0	1	0	0
G3BP2	9908	broad.mit.edu	37	4	76572312	76572312	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr4:76572312C>G	ENST00000359707.4	-	10	1743	c.958G>C	c.(958-960)Gac>Cac	p.D320H	G3BP2_ENST00000357854.3_Missense_Mutation_p.D287H|G3BP2_ENST00000395719.3_Missense_Mutation_p.D320H	NM_203505.2	NP_987101.1	Q9UN86	G3BP2_HUMAN	GTPase activating protein (SH3 domain) binding protein 2	320					cytoplasmic sequestering of NF-kappaB|mRNA transport|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol	GTPase activator activity|nucleotide binding|receptor signaling complex scaffold activity|RNA binding			breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	27			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			CTACGGTTGTCAGAGTCATTC	0.343000													12	105					0	0	1	0	0
LMO7	4008	broad.mit.edu	37	13	76335156	76335156	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr13:76335156C>G	ENST00000357063.3	+	5	1715	c.455C>G	c.(454-456)tCa>tGa	p.S152*	LMO7_ENST00000465261.2_5'UTR|LMO7_ENST00000377534.3_Nonsense_Mutation_p.S152*|LMO7_ENST00000321797.8_5'UTR|RP11-29G8.3_ENST00000563635.1_RNA|LMO7_ENST00000341547.4_Nonsense_Mutation_p.S152*|LMO7_ENST00000526202.1_Nonsense_Mutation_p.S61*			Q8WWI1	LMO7_HUMAN	LIM domain 7	152	CH.					cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		CAGGATTTATCAAATCGAGTC	0.333000													15	34					0	0	1	0	0
FAM171A1	221061	broad.mit.edu	37	10	15296770	15296770	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr10:15296770G>A	ENST00000378116.4	-	4	533	c.527C>T	c.(526-528)tCg>tTg	p.S176L		NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN	family with sequence similarity 171, member A1	176						integral to membrane				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						GTCCACCTCCGAAGGGGAGCT	0.507000													5	32					0	0	1	0	0
RAP2B	5912	broad.mit.edu	37	3	152880590	152880590	+	Silent	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr3:152880590C>T	ENST00000323534.2	+	1	562	c.108C>T	c.(106-108)atC>atT	p.I36I		NM_002886.2	NP_002877.2	P61225	RAP2B_HUMAN	RAP2B, member of RAS oncogene family	36					Rap protein signal transduction|regulation of protein tyrosine kinase activity	recycling endosome membrane	GTP binding|GTPase activity			NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	7			LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11)			ACCCGACCATCGAAGACTTTT	0.627000													9	117					0	0	1	0	0
ARID1A	8289	broad.mit.edu	37	1	27092815	27092815	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr1:27092815delC	ENST00000324856.7	+	9	3207	c.2836delC	c.(2836-2838)cccfs	p.P947fs	ARID1A_ENST00000457599.2_Frame_Shift_Del_p.P947fs|ARID1A_ENST00000374152.2_Frame_Shift_Del_p.P564fs	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	947					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)		CCCTCAGGGACCCCCATATTC	0.483			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								18	129	---	---	---	---					
RP11-782C8.2	0	broad.mit.edu	37	1	143210193	143210194	+	RNA	INS	-	-	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr1:143210193_143210194insT	ENST00000412204.2	-	0	876_877				RP11-782C8.1_ENST00000438000.1_lincRNA																							GGCAGCATTTGTTTTTTTAACA	0.317													7	58	---	---	---	---					
ITGA6	3655	broad.mit.edu	37	2	173337614	173337614	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr2:173337614delC	ENST00000375221.2	+	6	1091	c.888delC	c.(886-888)tacfs	p.Y296fs	ITGA6_ENST00000264106.6_Frame_Shift_Del_p.Y296fs|ITGA6_ENST00000409080.1_Intron|ITGA6_ENST00000264107.7_Intron|ITGA6_ENST00000409532.1_Frame_Shift_Del_p.Y138fs|ITGA6_ENST00000343713.4_Frame_Shift_Del_p.Y252fs			P23229	ITA6_HUMAN	integrin, alpha 6	296					blood coagulation|cell adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter	integrin complex	protein binding|receptor activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	44			OV - Ovarian serous cystadenocarcinoma(117;0.0979)			TGAATAGCTACCTAGGTTTGT	0.408													16	86	---	---	---	---					
TBC1D23	55773	broad.mit.edu	37	3	100039735	100039736	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr3:100039735_100039736insA	ENST00000394144.4	+	18	1945_1946	c.1938_1939insA	c.(1939-1941)aaafs	p.K647fs	TBC1D23_ENST00000475134.1_Frame_Shift_Ins_p.K510fs|TBC1D23_ENST00000486274.1_3'UTR|TBC1D23_ENST00000344949.5_Frame_Shift_Ins_p.K632fs	NM_001199198.2	NP_001186127.1	Q9NUY8	TBC23_HUMAN	TBC1 domain family, member 23	647						intracellular	Rab GTPase activator activity	p.?(2)|p.H650fs*3(1)|p.H635fs*3(1)		breast(1)|endometrium(1)|large_intestine(7)|liver(1)|lung(10)|ovary(1)|prostate(2)|skin(2)	25						AAATTACATCCAAAAAAAAACA	0.356													8	77	---	---	---	---					
UBE2K	3093	broad.mit.edu	37	4	39779392	39779392	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr4:39779392delA	ENST00000261427.5	+	6	774	c.490delA	c.(490-492)aaafs	p.K165fs	UBE2K_ENST00000438068.2_3'UTR|UBE2K_ENST00000445950.2_Intron|UBE2K_ENST00000503368.1_Frame_Shift_Del_p.K114fs|UBE2K_ENST00000295963.6_Frame_Shift_Del_p.K104fs	NM_001111112.1|NM_005339.4	NP_001104582.1|NP_005330.1	P61086	UBE2K_HUMAN	ubiquitin-conjugating enzyme E2K	165	UBA.				protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm	ATP binding|ubiquitin protein ligase binding|ubiquitin-ubiquitin ligase activity			large_intestine(1)|lung(1)|ovary(2)	4						AGAATACACCAAAAAAATAGA	0.363													7	122	---	---	---	---					
NRG2	9542	broad.mit.edu	37	5	139422565	139422567	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr5:139422565_139422567delGCT	ENST00000541337.1	-	1	317_319	c.88_90delAGC	c.(88-90)agcdel	p.S30del	NRG2_ENST00000394770.1_In_Frame_Del_p.S30del|NRG2_ENST00000361474.1_In_Frame_Del_p.S30del|NRG2_ENST00000289422.7_In_Frame_Del_p.S30del|NRG2_ENST00000289409.4_In_Frame_Del_p.S30del|NRG2_ENST00000358522.3_In_Frame_Del_p.S30del|NRG2_ENST00000545385.1_In_Frame_Del_p.S30del	NM_001184935.1	NP_001171864.1	O14511	NRG2_HUMAN	neuregulin 2	30	Poly-Ser.				embryo development	extracellular region|integral to membrane|plasma membrane	growth factor activity			breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	25			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			tgctcctctcgctgctgctgctg	0.675													4	3	---	---	---	---					
IFNGR1	3459	broad.mit.edu	37	6	137519505	137519506	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr6:137519505_137519506delCT	ENST00000367739.4	-	7	1253_1254	c.1132_1133delAG	c.(1132-1134)agtfs	p.S380fs	IFNGR1_ENST00000543628.1_Frame_Shift_Del_p.S352fs	NM_000416.2	NP_000407.1	P15260	INGR1_HUMAN	interferon gamma receptor 1	380					regulation of interferon-gamma-mediated signaling pathway|response to virus	integral to plasma membrane	interferon-gamma receptor activity			central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	18	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000829)|OV - Ovarian serous cystadenocarcinoma(155;0.00389)	Interferon gamma-1b(DB00033)	AGGTGAAGAACTCTCTCTCTCT	0.431													8	145	---	---	---	---					
TM9SF3	56889	broad.mit.edu	37	10	98336475	98336475	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr10:98336475delT	ENST00000371142.4	-	2	430	c.214delA	c.(214-216)agtfs	p.S72fs		NM_020123.3	NP_064508.3	Q9HD45	TM9S3_HUMAN	transmembrane 9 superfamily member 3	72						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)		TGACTGATACTTTTTTTTGAC	0.363													8	149	---	---	---	---					
IQSEC3	440073	broad.mit.edu	37	12	248252	248254	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr12:248252_248254delGAG	ENST00000538872.1	+	4	1841_1843	c.1723_1725delGAG	c.(1723-1725)gagdel	p.E579del	IQSEC3_ENST00000382841.2_In_Frame_Del_p.E276del|RP11-598F7.4_ENST00000505893.2_RNA|IQSEC3_ENST00000326261.4_In_Frame_Del_p.E579del			Q9UPP2	IQEC3_HUMAN	IQ motif and Sec7 domain 3	579	Poly-Glu.				regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)		Agaggaggaagaggaggaggagg	0.700													2	4	---	---	---	---					
RNF17	56163	broad.mit.edu	37	13	25419163	25419163	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr13:25419163delA	ENST00000255324.5	+	22	3099	c.3047delA	c.(3046-3048)gaafs	p.E1016fs	RNF17_ENST00000339524.3_Frame_Shift_Del_p.E68fs|RNF17_ENST00000381921.1_Frame_Shift_Del_p.E1016fs	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	1016	Tudor 2.				multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		AAACTTGAAGAAAATCTAAAG	0.303													18	118	---	---	---	---					
GSX1	219409	broad.mit.edu	37	13	28367927	28367929	+	In_Frame_Del	DEL	GGC	GGC	-			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr13:28367927_28367929delGGC	ENST00000302945.2	+	2	685_687	c.637_639delGGC	c.(637-639)ggcdel	p.G218del		NM_145657.1	NP_663632.1	Q9H4S2	GSX1_HUMAN	GS homeobox 1	218	Poly-Gly.				positive regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(1)|lung(1)|ovary(1)	4		Lung SC(185;0.0161)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	GBM - Glioblastoma multiforme(144;0.0402)|all cancers(112;0.0404)|OV - Ovarian serous cystadenocarcinoma(117;0.197)		CAACCATCgtggcggcggcggcg	0.631													7	93	---	---	---	---					
SIPA1L1	26037	broad.mit.edu	37	14	72190482	72190484	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr14:72190482_72190484delTCC	ENST00000555818.1	+	16	4738_4740	c.4390_4392delTCC	c.(4390-4392)tccdel	p.S1468del	SIPA1L1_ENST00000554874.1_3'UTR|SIPA1L1_ENST00000537413.1_In_Frame_Del_p.S922del|SIPA1L1_ENST00000381232.3_In_Frame_Del_p.S1447del|SIPA1L1_ENST00000358550.2_In_Frame_Del_p.S1447del	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	1468	Ser-rich.				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)		ctcctcctcttcctcctcctcct	0.552													7	167	---	---	---	---					
IL32	9235	broad.mit.edu	37	16	3119304	3119305	+	Frame_Shift_Ins	INS	-	-	G	rs2981599		TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr16:3119304_3119305insG	ENST00000525643.2	+	7	847_848	c.515_516insG	c.(514-519)gacaagfs	p.DK172fs	IL32_ENST00000534507.1_Frame_Shift_Ins_p.DK218fs|IL32_ENST00000551513.1_Frame_Shift_Ins_p.DK209fs|IL32_ENST00000549213.1_Frame_Shift_Ins_p.DK115fs|IL32_ENST00000530538.2_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000008180.9_Frame_Shift_Ins_p.DK152fs|IL32_ENST00000548246.1_Frame_Shift_Ins_p.DK132fs|IL32_ENST00000552356.1_Frame_Shift_Ins_p.DK152fs|IL32_ENST00000440815.3_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000396890.2_Frame_Shift_Ins_p.DK218fs|IL32_ENST00000548476.1_Frame_Shift_Ins_p.DK218fs|IL32_ENST00000551122.1_Frame_Shift_Ins_p.DK115fs|IL32_ENST00000444393.3_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000396887.3_Frame_Shift_Ins_p.DK115fs|IL32_ENST00000528163.2_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000530890.1_Frame_Shift_Ins_p.DK152fs|IL32_ENST00000548652.1_Frame_Shift_Ins_p.DK163fs|IL32_ENST00000325568.5_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000526464.2_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000552664.1_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000529550.1_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000552936.1_Frame_Shift_Ins_p.DK196fs|IL32_ENST00000531965.1_Frame_Shift_Ins_p.DK162fs|IL32_ENST00000382213.3_Frame_Shift_Ins_p.DK163fs|IL32_ENST00000533097.2_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000529699.1_Frame_Shift_Ins_p.DK152fs			P24001	IL32_HUMAN	interleukin 32	218					cell adhesion|defense response|immune response	extracellular space	cytokine activity			breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	15						CCACGGGGGGACAAGGAGGAGC	0.574													11	307	---	---	---	---					
C19orf55	148137	broad.mit.edu	37	19	36255947	36255949	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr19:36255947_36255949delCTC	ENST00000544099.1	+	7	702_704	c.639_641delCTC	c.(637-642)atctcc>atc	p.S218del	C19orf55_ENST00000396908.4_In_Frame_Del_p.S218del			Q2NL68	CS055_HUMAN	chromosome 19 open reading frame 55	218	Ser-rich.									cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)	15	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			AAGCCTCCATCTCCTCCTCCTCC	0.631													8	402	---	---	---	---					
RBCK1	10616	broad.mit.edu	37	20	401519	401521	+	In_Frame_Del	DEL	AGC	AGC	-			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr20:401519_401521delAGC	ENST00000356286.5	+	7	1466_1468	c.761_763delAGC	c.(760-765)aagcag>aag	p.Q258del	RBCK1_ENST00000353660.3_In_Frame_Del_p.Q216del|RBCK1_ENST00000382181.2_Intron	NM_031229.2	NP_112506.2	Q9BYM8	HOIL1_HUMAN	RanBP-type and C3HC4-type zinc finger containing 1	258	Interaction with TAB2.				interspecies interaction between organisms|negative regulation of NF-kappaB transcription factor activity|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|proteasomal ubiquitin-dependent protein catabolic process|protein linear polyubiquitination|T cell receptor signaling pathway	LUBAC complex	protein binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			kidney(1)|lung(4)	5		all_epithelial(17;0.172)|Lung NSC(37;0.191)|Breast(17;0.231)				GCCCAGCGGAAGCAGCAGCAGCA	0.729													2	4	---	---	---	---					
