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
FBN2	2201	broad.mit.edu	37	5	127693083	127693083	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr5:127693083T>C	ENST00000508053.1	-	26	3533	c.2559A>G	c.(2557-2559)atA>atG	p.I853M	FBN2_ENST00000262464.4_Missense_Mutation_p.I853M|FBN2_ENST00000508989.1_Missense_Mutation_p.I820M			P35556	FBN2_HUMAN	fibrillin 2	853	EGF-like 13; calcium-binding.				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)		CACATTCATTTATATCTACAA	0.423000													29	7					0	0	0.007291	0	0
PARVA	55742	broad.mit.edu	37	11	12525871	12525871	+	Silent	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr11:12525871C>T	ENST00000334956.8	+	6	1015	c.672C>T	c.(670-672)gcC>gcT	p.A224A	PARVA_ENST00000550549.1_Silent_p.A184A|PARVA_ENST00000538608.1_Silent_p.A131A|PARVA_ENST00000539723.1_Silent_p.A184A	NM_018222.4	NP_060692.2	Q9NVD7	PARVA_HUMAN	parvin, alpha	184					cell adhesion|cell junction assembly|cilium morphogenesis	actin cytoskeleton|cytosol|focal adhesion	actin binding			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)	11				Epithelial(150;0.00624)		CTGTTCATGCCAAGAGCCTGG	0.458000													15	7					0	0	0.003163	0	0
ITGA7	3679	broad.mit.edu	37	12	56091544	56091544	+	Silent	SNP	A	A	G			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr12:56091544A>G	ENST00000257880.7	-	10	1695	c.1476T>C	c.(1474-1476)gaT>gaC	p.D492D	ITGA7_ENST00000555728.1_Silent_p.D492D|ITGA7_ENST00000257879.6_Silent_p.D448D|ITGA7_ENST00000394229.2_Silent_p.D448D|ITGA7_ENST00000553804.1_Silent_p.D452D|ITGA7_ENST00000394230.2_Silent_p.D452D|ITGA7_ENST00000452168.2_Silent_p.D355D|ITGA7_ENST00000347027.6_Silent_p.D448D			Q13683	ITA7_HUMAN	integrin, alpha 7	492					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						TCCCATCCATATCCAAGCTGC	0.607000													24	32					0	0	0.021523	0	0
SDE2	163859	broad.mit.edu	37	1	226175920	226175920	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr1:226175920C>T	ENST00000272091.7	-	6	829	c.811G>A	c.(811-813)Gta>Ata	p.V271I		NM_152608.3	NP_689821.3			SDE2 telomere maintenance homolog (S. pombe)																		GTATTCACTACTCTCGCCCTC	0.502000													22	159					0	0	0.004656	0	0
KCNN1	3780	broad.mit.edu	37	19	18092569	18092569	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr19:18092569G>A	ENST00000222249.9	+	5	869	c.550G>A	c.(550-552)Gag>Aag	p.E184K		NM_002248.3	NP_002239.2	Q92952	KCNN1_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 1						synaptic transmission	voltage-gated potassium channel complex	calmodulin binding|small conductance calcium-activated potassium channel activity			endometrium(1)|kidney(1)|lung(5)|urinary_tract(1)	8						CATGACCTGCGAGCGCGTGTT	0.662000													16	20					0	0	0.004007	0	0
AUTS2	26053	broad.mit.edu	37	7	69364285	69364285	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr7:69364285T>G	ENST00000342771.4	+	2	644	c.323T>G	c.(322-324)cTt>cGt	p.L108R	AUTS2_ENST00000406775.2_Missense_Mutation_p.L108R|AUTS2_ENST00000403018.2_Missense_Mutation_p.L108R	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	108										breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		GATGTAGCACTTAAGCCTCAG	0.443000													11	41					0	0	0.010729	0	0
PHF20	51230	broad.mit.edu	37	20	34487428	34487428	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr20:34487428G>A	ENST00000374012.3	+	10	1548	c.1419G>A	c.(1417-1419)atG>atA	p.M473I	PHF20_ENST00000481202.1_3'UTR|PHF20_ENST00000439301.1_3'UTR			Q9BVI0	PHF20_HUMAN	PHD finger protein 20	473					regulation of transcription, DNA-dependent|transcription, DNA-dependent	MLL1 complex	DNA binding|zinc ion binding			breast(5)|endometrium(1)|kidney(7)|large_intestine(6)|lung(11)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(12;0.00631)|all_lung(11;0.0145)					ACTATCACATGAAGTATTTCC	0.478000													11	29					0	0	0.013537	0	0
DCAF17	80067	broad.mit.edu	37	2	172305301	172305301	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr2:172305301A>G	ENST00000375255.3	+	4	759	c.432A>G	c.(430-432)atA>atG	p.I144M	DCAF17_ENST00000468592.1_3'UTR|DCAF17_ENST00000539783.1_Missense_Mutation_p.I144M	NM_025000.3	NP_079276.2	Q5H9S7	DCA17_HUMAN	DDB1 and CUL4 associated factor 17	144						CUL4 RING ubiquitin ligase complex|integral to membrane|nucleolus				endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)	17						TTGAGAAAATATATCTTGCAC	0.333000													20	39					0	0	0.012319	0	0
TRPA1	8989	broad.mit.edu	37	8	72959440	72959440	+	Silent	SNP	T	T	C			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr8:72959440T>C	ENST00000262209.4	-	16	2115	c.1908A>G	c.(1906-1908)gtA>gtG	p.V636V	RP11-383H13.1_ENST00000524152.1_Intron|RP11-383H13.1_ENST00000537896.1_Intron|RP11-383H13.1_ENST00000457356.4_Intron	NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	636						integral to plasma membrane		p.?(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	AATCTAAAAGTACCTTTGAAA	0.313000													11	48					0	0	0.016723	0	0
AADAC	13	broad.mit.edu	37	3	151545957	151545957	+	Silent	SNP	A	A	G			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr3:151545957A>G	ENST00000232892.7	+	5	1323	c.1197A>G	c.(1195-1197)ctA>ctG	p.L399L	RP11-454C18.2_ENST00000483843.2_RNA|RP11-454C18.2_ENST00000475855.1_RNA	NM_001086.2	NP_001077.2	P22760	AAAD_HUMAN	arylacetamide deacetylase						positive regulation of triglyceride catabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	carboxylesterase activity|deacetylase activity|serine hydrolase activity|triglyceride lipase activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(5)|skin(2)	19		Myeloproliferative disorder(1037;0.0255)|all_neural(597;0.112)	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			AGGAAAATCTATAGTAAAACA	0.299000													24	12					0	0	0.014323	0	0
BSN	8927	broad.mit.edu	37	3	49694316	49694316	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr3:49694316G>A	ENST00000296452.4	+	5	7441	c.7327G>A	c.(7327-7329)Gaa>Aaa	p.E2443K		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	2443					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		ACTGCAGCGGGAACAGCTAGC	0.622000													8	5					0	0	0.003080	0	0
ACTL8	81569	broad.mit.edu	37	1	18152535	18152535	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr1:18152535C>T	ENST00000375406.1	+	3	838	c.622C>T	c.(622-624)Cag>Tag	p.Q208*		NM_030812.2	NP_110439.2	Q9H568	ACTL8_HUMAN	actin-like 8	208						cytoplasm|cytoskeleton				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	28		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00186)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;6.43e-06)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.00652)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)		CGCCGTGACTCAGATGAACAA	0.562000											OREG0013157	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	32	17					0	0	0.009535	0	0
MTSS1L	92154	broad.mit.edu	37	16	70698173	70698173	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr16:70698173T>C	ENST00000338779.6	-	15	1925	c.1651A>G	c.(1651-1653)Act>Gct	p.T551A	FLJ00418_ENST00000597002.1_5'UTR	NM_138383.2	NP_612392.1	Q765P7	MTSSL_HUMAN	metastasis suppressor 1-like	551					filopodium assembly|signal transduction		actin binding|cytoskeletal adaptor activity|SH3 domain binding			breast(1)|central_nervous_system(2)|endometrium(1)|liver(1)|lung(1)|skin(1)	7						GGCAGGCCAGTGGCCGTGGGC	0.746000													9	23					0	0	0.004482	0	0
ITPKC	80271	broad.mit.edu	37	19	41223370	41223370	+	Silent	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr19:41223370G>A	ENST00000263370.2	+	1	363	c.330G>A	c.(328-330)aaG>aaA	p.K110K		NM_025194.2	NP_079470.1	Q96DU7	IP3KC_HUMAN	inositol-trisphosphate 3-kinase C	110						cytoplasm|nucleus	ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	14			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			AGAGGCCCAAGCAAAAGACGG	0.622000													18	43					0	0	0.004990	0	0
AGAP2	116986	broad.mit.edu	37	12	58121176	58121176	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr12:58121176C>T	ENST00000257897.3	-	16	2064	c.1979G>A	c.(1978-1980)cGa>cAa	p.R660Q	AGAP2-AS1_ENST00000542466.2_Missense_Mutation_p.S134L|AGAP2_ENST00000547588.1_Missense_Mutation_p.R1016Q	NM_014770.3	NP_055585.1	Q99490	AGAP2_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 2	1016					axon guidance|negative regulation of neuron apoptosis|negative regulation of protein catabolic process|protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	mitochondrion|nucleolus	ARF GTPase activator activity|GTP binding|zinc ion binding			breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|large_intestine(7)|lung(20)|prostate(3)|skin(1)|stomach(1)	48						GGCACGGCCTCGCGTGTCGCT	0.667000													7	11					0	0	0.001984	0	0
DPM3	54344	broad.mit.edu	37	1	155112758	155112758	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr1:155112758G>C	ENST00000368399.1	-	1	125	c.49C>G	c.(49-51)Ctg>Gtg	p.L17V	DPM3_ENST00000341298.3_Intron|DPM3_ENST00000368400.4_Intron	NM_018973.3	NP_061846.2	Q9P2X0	DPM3_HUMAN	dolichyl-phosphate mannosyltransferase polypeptide 3	0					C-terminal protein lipidation|dolichol-linked oligosaccharide biosynthetic process|GPI anchor biosynthetic process|protein C-linked glycosylation via 2'-alpha-mannosyl-L-tryptophan|protein N-linked glycosylation via asparagine|protein O-linked mannosylation|regulation of protein stability	dolichol-phosphate-mannose synthase complex|integral to endoplasmic reticulum membrane	protein binding			endometrium(2)	2	all_epithelial(22;4.71e-30)|all_lung(78;3.15e-27)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;2.28e-10)|all cancers(21;6.16e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000395)|LUSC - Lung squamous cell carcinoma(543;0.193)			ctgaggagcagaaaggaaaag	0.587000													70	9					0	0	0.014410	0	0
CAP1	10487	broad.mit.edu	37	1	40525754	40525754	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr1:40525754A>G	ENST00000372797.3	+	3	689	c.128A>G	c.(127-129)tAt>tGt	p.Y43C	CAP1_ENST00000372792.2_Missense_Mutation_p.Y43C|CAP1_ENST00000372798.1_Missense_Mutation_p.Y42C|CAP1_ENST00000372805.3_Missense_Mutation_p.Y43C|CAP1_ENST00000340450.3_Missense_Mutation_p.Y42C|CAP1_ENST00000372802.1_Missense_Mutation_p.Y42C	NM_001105530.1|NM_006367.3	NP_001099000|NP_006358	Q01518	CAP1_HUMAN	CAP, adenylate cyclase-associated protein 1 (yeast)	43					activation of adenylate cyclase activity|axon guidance|establishment or maintenance of cell polarity|platelet activation|platelet degranulation|signal transduction	plasma membrane	actin binding			endometrium(3)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	12	Lung NSC(20;5.03e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;4.63e-18)|Epithelial(16;1.27e-16)|all cancers(16;2.3e-15)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GCAGCTCCATATGTGCAGGCA	0.473000													22	26					0	0	0.016522	0	0
CCDC178	374864	broad.mit.edu	37	18	30903591	30903591	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr18:30903591C>T	ENST00000383096.3	-	11	1068	c.886G>A	c.(886-888)Gac>Aac	p.D296N	CCDC178_ENST00000579916.1_Intron|CCDC178_ENST00000300227.8_Missense_Mutation_p.D296N|CCDC178_ENST00000402325.1_Missense_Mutation_p.D296N|CCDC178_ENST00000583930.1_Missense_Mutation_p.D296N|CCDC178_ENST00000403303.1_Missense_Mutation_p.D296N|CCDC178_ENST00000579947.1_Missense_Mutation_p.D296N|CCDC178_ENST00000406524.2_Missense_Mutation_p.D296N					coiled-coil domain containing 178																		CTGTGTAGGTCCATTACCTAG	0.294000													4	2					0	0	0.009096	0	0
NIF3L1	60491	broad.mit.edu	37	2	201757014	201757014	+	Silent	SNP	T	T	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr2:201757014T>A	ENST00000409020.1	+	2	642	c.348T>A	c.(346-348)gcT>gcA	p.A116A	NIF3L1_ENST00000409588.1_Silent_p.A116A|NIF3L1_ENST00000409357.1_Silent_p.A116A|NIF3L1_ENST00000416651.1_Silent_p.A116A|NIF3L1_ENST00000359683.4_Silent_p.A89A			Q9GZT8	NIF3L_HUMAN	NIF3 NGG1 interacting factor 3-like 1 (S. cerevisiae)	116					positive regulation of transcription, DNA-dependent		transcription factor binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1)|urinary_tract(2)	13						TGATCCGGGCTCTGGAGAACA	0.547000													30	53					0	0	0.009535	0	0
ABCA17P	650655	broad.mit.edu	37	16	2436192	2436192	+	RNA	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr16:2436192C>T	ENST00000469908.1	+	0	1447					NR_003574.1																						CTCACGGAGCCGCTTCCTGAG	0.632000													23	29					0	0	0.012319	0	0
VPS13B	157680	broad.mit.edu	37	8	100523432	100523432	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr8:100523432C>T	ENST00000358544.2	+	29	4511	c.4400C>T	c.(4399-4401)tCa>tTa	p.S1467L	VPS13B_ENST00000357162.2_Missense_Mutation_p.S1442L|VPS13B_ENST00000395996.1_3'UTR	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	1467					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)			AAGTTAACATCAAGAAATGAG	0.378000													142	22					0	0	0.014410	0	0
NAV1	89796	broad.mit.edu	37	1	201779122	201779122	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr1:201779122G>C	ENST00000367296.4	+	23	4870	c.4450G>C	c.(4450-4452)Gag>Cag	p.E1484Q	NAV1_ENST00000367295.1_Missense_Mutation_p.E1090Q|NAV1_ENST00000367302.1_Missense_Mutation_p.E1437Q|NAV1_ENST00000367297.4_Missense_Mutation_p.E1476Q|IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000295624.6_Missense_Mutation_p.E1481Q|NAV1_ENST00000367300.3_Missense_Mutation_p.E1424Q	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1	1484					cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding			breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						ACTAAGCACTGAGTCCATCCA	0.478000													25	43					0	0	0.021523	0	0
APTX	54840	broad.mit.edu	37	9	32974519	32974519	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr9:32974519G>A	ENST00000379817.2	-	6	1007	c.811C>T	c.(811-813)Cct>Tct	p.P271S	APTX_ENST00000468275.1_Missense_Mutation_p.P271S|APTX_ENST00000436040.2_3'UTR|APTX_ENST00000476858.1_Missense_Mutation_p.P231S|APTX_ENST00000397172.3_Missense_Mutation_p.P213S|APTX_ENST00000463596.1_Missense_Mutation_p.P271S|APTX_ENST00000309615.3_Missense_Mutation_p.P285S|APTX_ENST00000379813.3_Missense_Mutation_p.P271S|APTX_ENST00000379825.2_Missense_Mutation_p.P285S|APTX_ENST00000379819.1_Missense_Mutation_p.P285S			Q7Z2E3	APTX_HUMAN	aprataxin	285	HIT.				cell death|double-strand break repair|regulation of protein stability|response to hydrogen peroxide|single strand break repair	chromatin|nucleolus|nucleoplasm	chromatin binding|damaged DNA binding|DNA 5'-adenosine monophosphate hydrolase activity|double-stranded DNA binding|double-stranded RNA binding|phosphoglycolate phosphatase activity|phosphoprotein binding|polynucleotide 3'-phosphatase activity|protein N-terminus binding|zinc ion binding			endometrium(1)|lung(1)|ovary(2)|prostate(2)	6			LUSC - Lung squamous cell carcinoma(29;0.0302)	GBM - Glioblastoma multiforme(74;0.105)		TTAAGGCAAGGAGAATCAAAA	0.318000								Editing and processing nucleases					25	34					0	0	0.005443	0	0
IGLV3-27	28791	broad.mit.edu	37	22	23011260	23011260	+	RNA	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr22:23011260C>T	ENST00000390304.2	+	0	361																											TACTGTTACTCTGCGGCTGAC	0.562000													16	21					0	0	0.004990	0	0
PTPMT1	114971	broad.mit.edu	37	11	47587500	47587500	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr11:47587500G>A	ENST00000534775.1	+	1	491	c.326G>A	c.(325-327)cGa>cAa	p.R109Q	PTPMT1_ENST00000326674.9_Missense_Mutation_p.E73K|PTPMT1_ENST00000527079.2_3'UTR|PTPMT1_ENST00000326656.8_Missense_Mutation_p.E73K|NDUFS3_ENST00000533507.1_3'UTR|PTPMT1_ENST00000426530.2_Missense_Mutation_p.R109Q			Q8WUK0	PTPM1_HUMAN	protein tyrosine phosphatase, mitochondrial 1	0	Tyrosine-protein phosphatase.				inositol phosphate dephosphorylation	mitochondrial inner membrane	phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			breast(1)|kidney(1)|large_intestine(2)|lung(1)|skin(1)	6						CACCATGAACGAGGAGTACGA	0.677000													15	20					0	0	0.010504	0	0
ZNF721	170960	broad.mit.edu	37	4	436514	436514	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr4:436514C>G	ENST00000338977.5	-	2	1754	c.1706G>C	c.(1705-1707)gGa>gCa	p.G569A	ZNF721_ENST00000511833.2_Missense_Mutation_p.G581A|ZNF721_ENST00000506646.1_Intron|ZNF721_ENST00000507078.1_Intron|ABCA11P_ENST00000451020.2_RNA					zinc finger protein 721											endometrium(2)|kidney(2)|large_intestine(15)|lung(6)|ovary(1)|skin(1)|stomach(5)|urinary_tract(1)	33						AGGTTTCTCTCCAGTATGAAT	0.398000													27	123					0	0	0.006320	0	0
ZNF202	7753	broad.mit.edu	37	11	123598256	123598256	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr11:123598256C>T	ENST00000336139.4	-	7	1242	c.880G>A	c.(880-882)Gag>Aag	p.E294K	ZNF202_ENST00000530393.1_Missense_Mutation_p.E294K|ZNF202_ENST00000529691.1_Missense_Mutation_p.E294K			O95125	ZN202_HUMAN	zinc finger protein 202	294	KRAB.				lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.03)		ACCCAAGGCTCTTCCTCTCTA	0.483000													22	25					0	0	0.016522	0	0
VPS13B	157680	broad.mit.edu	37	8	100396448	100396448	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr8:100396448T>C	ENST00000395996.1	+	20	2948	c.2837T>C	c.(2836-2838)cTt>cCt	p.L946P	VPS13B_ENST00000357162.2_Missense_Mutation_p.L946P|VPS13B_ENST00000358544.2_Missense_Mutation_p.L946P			Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	946					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)			GCTGTACTTCTTTGCAGTATA	0.353000													9	257					0	0	0.006214	0	0
PLXNB3	5365	broad.mit.edu	37	X	153043511	153043511	+	Silent	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chrX:153043511C>T	ENST00000538966.1	+	33	5710	c.5439C>T	c.(5437-5439)ttC>ttT	p.F1813F	PLXNB3_ENST00000361971.5_Silent_p.F1790F|PLXNB3_ENST00000538776.1_Silent_p.F1443F|SRPK3_ENST00000489426.1_5'UTR|PLXNB3_ENST00000485980.1_3'UTR	NM_001163257.1	NP_001156729.1	Q9ULL4	PLXB3_HUMAN	plexin B3	1790					axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity			central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					CCCAGACCTTCATTGACTCCT	0.572000													29	6					0	0	0.009535	0	0
PSMD7	5713	broad.mit.edu	37	16	74330812	74330812	+	Translation_Start_Site	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr16:74330812G>A	ENST00000540379.1	+	0	95				PSMD7_ENST00000219313.4_De_novo_Start_InFrame|PSMD7_ENST00000568615.2_De_novo_Start_InFrame|PSMD7_ENST00000567958.1_De_novo_Start_InFrame			P51665	PSD7_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 7						anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)	15						GGTGTGTCGCGATGCCGGAGC	0.647000													16	14					0	0	0.004990	0	0
KAT6A	7994	broad.mit.edu	37	8	41791525	41791525	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr8:41791525C>T	ENST00000396930.3	-	18	4756	c.4213G>A	c.(4213-4215)Gag>Aag	p.E1405K	KAT6A_ENST00000406337.1_Missense_Mutation_p.E1405K|KAT6A_ENST00000265713.2_Missense_Mutation_p.E1405K	NM_001099412.1	NP_001092882.1	Q92794	MYST3_HUMAN	K(lysine) acetyltransferase 6A	1405					histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding										TCGATTAACTCTTCCTTAGTG	0.498000													25	141					0	0	0.016522	0	0
TMEM132E	124842	broad.mit.edu	37	17	32964390	32964390	+	Silent	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr17:32964390C>T	ENST00000321639.5	+	10	2422	c.2094C>T	c.(2092-2094)acC>acT	p.T698T		NM_207313.1	NP_997196.1	Q6IEE7	T132E_HUMAN	transmembrane protein 132E	698						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)		CAGAGCTAACCATCGCTGAGA	0.642000													7	47					0	0	0.003080	0	0
DNAH14	127602	broad.mit.edu	37	1	225152221	225152221	+	Silent	SNP	A	A	G			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr1:225152221A>G	ENST00000430092.1	+	5	623	c.408A>G	c.(406-408)ctA>ctG	p.L136L	DNAH14_ENST00000366849.1_Silent_p.L136L|DNAH14_ENST00000366848.1_Silent_p.L136L|DNAH14_ENST00000445597.2_Silent_p.L263L|DNAH14_ENST00000439375.2_Silent_p.L136L|DNAH14_ENST00000366850.3_Silent_p.L136L|DNAH14_ENST00000400952.3_Silent_p.L136L	NM_001373.1	NP_001364.1	Q0VDD8	DYH14_HUMAN	dynein, axonemal, heavy chain 14	263					microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|microtubule motor activity			NS(2)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(2)|lung(2)|skin(2)|stomach(1)	27						TTATTAGGCTACGAGAAAAGC	0.338000													41	47					0	0	0.014410	0	0
BTBD1	53339	broad.mit.edu	37	15	83710670	83710670	+	Silent	SNP	G	G	C			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr15:83710670G>C	ENST00000261721.4	-	4	874	c.672C>G	c.(670-672)ctC>ctG	p.L224L	BTBD1_ENST00000379403.2_Silent_p.L224L|RP11-382A20.7_ENST00000570202.1_RNA|RP11-382A20.6_ENST00000568441.1_RNA|RP11-382A20.5_ENST00000566841.1_RNA	NM_001011885.1|NM_025238.3	NP_001011885.1|NP_079514.1	Q9H0C5	BTBD1_HUMAN	BTB (POZ) domain containing 1	224						cytoplasmic mRNA processing body|protein complex	protein binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)	10				all cancers(203;0.000186)		AAACTGCACAGAGTGTATCTA	0.368000													13	12					0	0	0.003163	0	0
TRANK1	9881	broad.mit.edu	37	3	36898029	36898029	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr3:36898029T>C	ENST00000429976.2	-	12	3299	c.3052A>G	c.(3052-3054)Atc>Gtc	p.I1018V	TRANK1_ENST00000428977.2_Missense_Mutation_p.I468V|TRANK1_ENST00000301807.6_Missense_Mutation_p.I468V	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	1018					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						TTGAGGTCGATCACCGCGTAC	0.537000													97	89					0	0	0.014410	0	0
FMR1	2332	broad.mit.edu	37	X	147014278	147014278	+	Silent	SNP	A	A	G			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chrX:147014278A>G	ENST00000218200.8	+	9	1105	c.876A>G	c.(874-876)ttA>ttG	p.L292L	FMR1_ENST00000439526.2_Silent_p.L292L|FMR1_ENST00000370477.1_Silent_p.L292L|FMR1_ENST00000370475.4_Silent_p.L292L|FMR1_ENST00000334557.6_Silent_p.L292L|FMR1_ENST00000440235.2_5'UTR|FMR1_ENST00000370471.3_Silent_p.L292L|FMR1_ENST00000370470.1_Silent_p.L292L	NM_001185076.1|NM_001185082.1	NP_001172005.1|NP_001172011.1	Q06787	FMR1_HUMAN	fragile X mental retardation 1	292	KH 2.				mRNA transport|negative regulation of translational initiation	cytoplasm|mRNA cap binding complex|nucleolus|nucleoplasm|soluble fraction	mRNA binding|protein binding			NS(1)|breast(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	35	Acute lymphoblastic leukemia(192;6.56e-05)					CAAGGAACTTAGTAGGTAAGT	0.328000									Fragile X syndrome				31	11					0	0	0.008361	0	0
SLC27A6	28965	broad.mit.edu	37	5	128324319	128324319	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr5:128324319C>G	ENST00000262462.4	+	3	1722	c.712C>G	c.(712-714)Cag>Gag	p.Q238E	SLC27A6_ENST00000506176.1_Missense_Mutation_p.Q238E|SLC27A6_ENST00000395266.1_Missense_Mutation_p.Q238E			Q9Y2P4	S27A6_HUMAN	solute carrier family 27 (fatty acid transporter), member 6	238					long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process	integral to membrane|sarcolemma	fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding			NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		TGTGATTAGTCAGCTGCAGGT	0.378000													53	29					0	0	0.014410	0	0
NUP210	23225	broad.mit.edu	37	3	13363766	13363766	+	Silent	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr3:13363766C>T	ENST00000254508.5	-	35	4924	c.4842G>A	c.(4840-4842)caG>caA	p.Q1614Q		NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	1614					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					CCGGCTTGAACTGGGACTGGC	0.557000													153	99					0	0	0.014410	0	0
SAMD14	201191	broad.mit.edu	37	17	48190393	48190393	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr17:48190393G>A	ENST00000330175.4	-	10	1435	c.1118C>T	c.(1117-1119)tCt>tTt	p.S373F	SAMD14_ENST00000503131.1_Missense_Mutation_p.S401F	NM_001257359.1	NP_001244288.1	Q8IZD0	SAM14_HUMAN	sterile alpha motif domain containing 14	373	SAM.									breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(3)|prostate(1)|urinary_tract(1)	15						CCGGTCATGAGAGTTGCTGAG	0.657000													6	33					0	0	0.001984	0	0
XRCC3	7517	broad.mit.edu	37	14	104174929	104174929	+	Silent	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr14:104174929G>A	ENST00000553264.1	-	3	919	c.123C>T	c.(121-123)ctC>ctT	p.L41L	XRCC3_ENST00000555055.1_Silent_p.L41L|XRCC3_ENST00000352127.7_Silent_p.L41L|XRCC3_ENST00000554913.1_Silent_p.L41L|XRCC3_ENST00000445556.1_Silent_p.L41L|XRCC3_ENST00000554974.1_Intron			O43542	XRCC3_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 3	41					DNA recombination|DNA repair	mitochondrion|nucleus|perinuclear region of cytoplasm	ATP binding|DNA binding|DNA-dependent ATPase activity			endometrium(1)|large_intestine(1)|ovary(1)|prostate(1)	4		Melanoma(154;0.155)|all_epithelial(191;0.19)		Epithelial(152;0.239)		CGGGGCTGGAGAGGTTGGTCA	0.507000								Direct reversal of damage;Homologous recombination					22	8					0	0	0.014323	0	0
FAM208A	23272	broad.mit.edu	37	3	56659005	56659005	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr3:56659005G>C	ENST00000431842.2	-	15	3782	c.2858C>G	c.(2857-2859)aCg>aGg	p.T953R	FAM208A_ENST00000485156.1_Intron|FAM208A_ENST00000493960.2_Missense_Mutation_p.T1390R|FAM208A_ENST00000355628.5_Missense_Mutation_p.T1329R	NM_015224.3	NP_056039.2	Q9UK61	CC063_HUMAN	family with sequence similarity 208, member A	1390										NS(1)|breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(11)|prostate(3)|skin(1)	32						ATTCAGAAGCGTCAACAGACT	0.348000													6	60					0	0	0.003080	0	0
GPR112	139378	broad.mit.edu	37	X	135431715	135431715	+	Silent	SNP	G	G	C			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chrX:135431715G>C	ENST00000394143.1	+	6	6141	c.5850G>C	c.(5848-5850)ggG>ggC	p.G1950G	GPR112_ENST00000394141.1_Silent_p.G1745G|GPR112_ENST00000412101.1_Silent_p.G1745G|GPR112_ENST00000287534.4_Silent_p.G1887G|GPR112_ENST00000370652.1_Silent_p.G1950G	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1950					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					CTAACCATGGGCTTTCTGAGA	0.413000													82	18					0	0	0.014410	0	0
ZNF99	7652	broad.mit.edu	37	19	22941314	22941314	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr19:22941314G>A	ENST00000397104.3	-	5	1123	c.1124C>T	c.(1123-1125)tCa>tTa	p.S375L	ZNF99_ENST00000596209.1_Missense_Mutation_p.S466L					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)				TCTAAGGGCTGAAAAATTGCT	0.358000													8	27					0	0	0.003080	0	0
ANGPTL4	51129	broad.mit.edu	37	19	8431175	8431175	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr19:8431175C>A	ENST00000301455.2	+	3	690	c.519C>A	c.(517-519)gaC>gaA	p.D173E	ANGPTL4_ENST00000541807.1_Missense_Mutation_p.D6E|ANGPTL4_ENST00000393962.2_Missense_Mutation_p.D173E	NM_139314.1	NP_647475.1	Q9BY76	ANGL4_HUMAN	angiopoietin-like 4	173					angiogenesis|cell differentiation|cellular lipid metabolic process|negative regulation of apoptosis|negative regulation of lipoprotein lipase activity|positive regulation of angiogenesis|response to hypoxia|signal transduction|triglyceride homeostasis	extracellular space|proteinaceous extracellular matrix	enzyme inhibitor activity|receptor binding			large_intestine(1)|lung(1)|ovary(2)|skin(2)	6						AGCCAGTTGACCCGGCTCACA	0.632000													18	32					1.33834e-09	1.51975e-09	0.007413	1	0
ZMYND10	51364	broad.mit.edu	37	3	50379288	50379288	+	Silent	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr3:50379288C>T	ENST00000231749.3	-	10	2346	c.1074G>A	c.(1072-1074)caG>caA	p.Q358Q	ZMYND10_ENST00000490675.1_5'UTR|ZMYND10_ENST00000360165.3_Silent_p.Q353Q|ZMYND10-AS1_ENST00000440013.1_RNA	NM_015896.2	NP_056980.2	O75800	ZMY10_HUMAN	zinc finger, MYND-type containing 10	358						cytoplasm	protein binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|urinary_tract(2)	14				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		TGAACACATGCTGGAGCTGGT	0.597000										TSP Lung(30;0.18)			36	32					0	0	0.017118	0	0
GLI3	2737	broad.mit.edu	37	7	42005045	42005045	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr7:42005045G>A	ENST00000395925.3	-	15	3710	c.3626C>T	c.(3625-3627)cCt>cTt	p.P1209L	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	1209					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						GCCCCCAGCAGGCCCGCTCCT	0.652000									Pallister-Hall syndrome;Greig Cephalopolysyndactyly				4	104					0	0	0.009096	0	0
LMNA	4000	broad.mit.edu	37	1	156100457	156100457	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr1:156100457G>A	ENST00000368300.4	+	2	618	c.406G>A	c.(406-408)Gac>Aac	p.D136N	LMNA_ENST00000368297.1_Missense_Mutation_p.D55N|LMNA_ENST00000473598.2_Missense_Mutation_p.D37N|LMNA_ENST00000347559.2_Missense_Mutation_p.D136N|LMNA_ENST00000368299.3_Missense_Mutation_p.D136N|LMNA_ENST00000448611.2_Missense_Mutation_p.D24N|LMNA_ENST00000392353.3_Missense_Mutation_p.D55N|LMNA_ENST00000361308.4_Missense_Mutation_p.D136N|LMNA_ENST00000368301.2_Missense_Mutation_p.D136N	NM_170707.3	NP_733821.1	P02545	LMNA_HUMAN	lamin A/C	136	Coil 1B.|Rod.				cellular component disassembly involved in apoptosis|cellular response to hypoxia|establishment or maintenance of microtubule cytoskeleton polarity|muscle organ development|positive regulation of cell aging|regulation of apoptosis|regulation of cell migration	cytoplasm|lamin filament|nuclear envelope|perinuclear region of cytoplasm	protein binding|structural molecule activity			NS(1)|endometrium(1)|kidney(1)|lung(3)|ovary(4)	10	Hepatocellular(266;0.158)					TCGGCTGAAGGACCTGGAGGC	0.572000									Werner syndrome;Hutchinson-Gilford Progeria Syndrome		OREG0013866	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	72	28					0	0	0.014410	0	0
SULT1C4	27233	broad.mit.edu	37	2	108999925	108999925	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr2:108999925A>G	ENST00000272452.2	+	5	900	c.574A>G	c.(574-576)Aaa>Gaa	p.K192E	SULT1C4_ENST00000409309.3_Missense_Mutation_p.K117E	NM_006588.2	NP_006579.2	O75897	ST1C4_HUMAN	sulfotransferase family, cytosolic, 1C, member 4	192					3'-phosphoadenosine 5'-phosphosulfate metabolic process|sulfation|xenobiotic metabolic process	cytosol	sulfotransferase activity			endometrium(1)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	12						AGCCAAAGACAAACACCGTAT	0.463000													48	28					0	0	0.014410	0	0
NOC2L	26155	broad.mit.edu	37	1	880925	880925	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr1:880925C>T	ENST00000327044.6	-	17	2075	c.2026G>A	c.(2026-2028)Gac>Aac	p.D676N		NM_015658.3	NP_056473	Q9Y3T9	NOC2L_HUMAN	nucleolar complex associated 2 homolog (S. cerevisiae)	676	Asp/Glu-rich (acidic).					nucleolus	protein binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	16	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;8.75e-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)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.86e-38)|OV - Ovarian serous cystadenocarcinoma(86;6.08e-23)|Colorectal(212;0.000161)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(365;0.000475)|Kidney(185;0.00231)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)		TCGGTGTCGTCCTCTTCAGAG	0.577000													21	51					0	0	0.012319	0	0
CD63	967	broad.mit.edu	37	12	56120509	56120509	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr12:56120509G>A	ENST00000549117.1	-	5	837	c.401C>T	c.(400-402)tCg>tTg	p.S134L	CD63_ENST00000548898.1_Missense_Mutation_p.S41L|CD63_ENST00000548160.1_Missense_Mutation_p.S41L|CD63_ENST00000420846.3_Missense_Mutation_p.S134L|CD63_ENST00000546939.1_Missense_Mutation_p.S52L|CD63_ENST00000552067.1_Missense_Mutation_p.S41L|CD63_ENST00000550776.1_Missense_Mutation_p.S52L|CD63_ENST00000552692.1_Missense_Mutation_p.S134L|CD63_ENST00000552754.1_Missense_Mutation_p.S111L|CD63_ENST00000257857.4_Missense_Mutation_p.S134L	NM_001257389.1	NP_001244318.1	P08962	CD63_HUMAN	CD63 molecule	134					platelet activation|platelet degranulation	integral to plasma membrane|late endosome membrane|lysosomal membrane|platelet dense granule membrane				kidney(1)|large_intestine(3)|lung(2)|ovary(1)	7						GTCCAGGATCGAAGCAGTGTG	0.522000													31	34					0	0	0.007291	0	0
BMP2K	55589	broad.mit.edu	37	4	79833000	79833000	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr4:79833000C>A	ENST00000335016.5	+	16	3465	c.3299C>A	c.(3298-3300)cCa>cAa	p.P1100Q	PAQR3_ENST00000295462.3_Intron	NM_198892.1	NP_942595.1	Q9NSY1	BMP2K_HUMAN	BMP2 inducible kinase	1100						nucleus	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	13						ACTGTCCTGCCAGGGCGGCCA	0.522000													35	50					1.22384e-17	1.4262e-17	0.013726	1	0
MLLT3	4300	broad.mit.edu	37	9	20414343	20414343	+	Silent	SNP	A	A	G			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr9:20414343A>G	ENST00000380338.4	-	5	787	c.501T>C	c.(499-501)agT>agC	p.S167S	MLLT3_ENST00000429426.2_Silent_p.S164S|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	167	Poly-Ser.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	p.S167S(19)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctactgctgctgc	0.532000			T	MLL	ALL								4	41					0	0	0.014758	0	0
ABCA13	154664	broad.mit.edu	37	7	48308595	48308595	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr7:48308595C>T	ENST00000435803.1	+	16	2048	c.2024C>T	c.(2023-2025)cCt>cTt	p.P675L		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	675					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						GAGGAATCTCCTTGTTTTGAA	0.289000													5	27					0	0	0.014758	0	0
PTCD1	26024	broad.mit.edu	37	7	99032712	99032712	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr7:99032712G>A	ENST00000292478.4	-	2	404	c.154C>T	c.(154-156)Cag>Tag	p.Q52*	ATP5J2-PTCD1_ENST00000437572.1_5'UTR|PTCD1_ENST00000555673.1_Nonsense_Mutation_p.Q101*|ATP5J2-PTCD1_ENST00000413834.1_Nonsense_Mutation_p.Q101*	NM_015545.3	NP_056360.2			pentatricopeptide repeat domain 1											endometrium(5)|large_intestine(3)|lung(16)|ovary(2)|skin(1)	27	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)			AGGGGCAGCTGAGAGGAGGAG	0.657000													20	18					0	0	0.007413	0	0
XYLB	9942	broad.mit.edu	37	3	38442474	38442474	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr3:38442474C>A	ENST00000207870.3	+	18	1621	c.1531C>A	c.(1531-1533)Cag>Aag	p.Q511K	XYLB_ENST00000542835.1_Missense_Mutation_p.Q374K|XYLB_ENST00000472721.1_3'UTR	NM_005108.3	NP_005099.2	O75191	XYLB_HUMAN	xylulokinase homolog (H. influenzae)	511					D-xylose metabolic process|generation of precursor metabolites and energy|xylulose catabolic process		ATP binding|xylulokinase activity			endometrium(3)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(1)|prostate(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.00372)|Kidney(284;0.00405)		GGGAGCTTCTCAGGTGAGAGA	0.493000													37	54					6.70999e-13	7.69828e-13	0.019004	1	0
KMT2A	4297	broad.mit.edu	37	11	118342391	118342391	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr11:118342391C>T	ENST00000534358.1	+	3	540	c.517C>T	c.(517-519)Cga>Tga	p.R173*	KMT2A_ENST00000354520.4_Nonsense_Mutation_p.R173*|KMT2A_ENST00000389506.5_Nonsense_Mutation_p.R173*	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2			lysine (K)-specific methyltransferase 2A																		AACTAGTCCTCGAAAACCTCG	0.383000													8	15					0	0	0.004482	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125175130	125175130	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr2:125175130G>C	ENST00000431078.1	+	4	856	c.492G>C	c.(490-492)aaG>aaC	p.K164N		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	164	F5/8 type C.				cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		CCAGTGGGAAGATTGGCATGA	0.498000													10	9					0	0	0.008291	0	0
MEI1	150365	broad.mit.edu	37	22	42172208	42172208	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr22:42172208C>G	ENST00000401548.3	+	21	2687	c.2647C>G	c.(2647-2649)Cga>Gga	p.R883G	MEI1_ENST00000540880.1_Missense_Mutation_p.R201G|MEI1_ENST00000300398.4_5'UTR|MEI1_ENST00000400107.1_Missense_Mutation_p.R251G	NM_152513.3	NP_689726.3	Q5TIA1	MEI1_HUMAN	meiosis inhibitor 1	883							binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						CGGTCTTATCCGAGGCCACTT	0.562000													41	63					0	0	0.008740	0	0
LRP1B	53353	broad.mit.edu	37	2	142888275	142888275	+	Silent	SNP	T	T	C			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr2:142888275T>C	ENST00000389484.3	-	1	995	c.24A>G	c.(22-24)ttA>ttG	p.L8L		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	8					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		AGAGAGTGAGTAAGGCGAGGA	0.662000										TSP Lung(27;0.18)			7	13					0	0	0.003080	0	0
DNAH7	56171	broad.mit.edu	37	2	196877531	196877531	+	Silent	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr2:196877531G>A	ENST00000312428.6	-	10	1069	c.969C>T	c.(967-969)gcC>gcT	p.A323A	DNAH7_ENST00000410072.1_Silent_p.A323A	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	323	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						GAGTCTCTTTGGCAGAGTCCA	0.323000													8	55					0	0	0.006214	0	0
TLE4	7091	broad.mit.edu	37	9	82267576	82267576	+	Silent	SNP	A	A	G			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr9:82267576A>G	ENST00000376520.4	+	7	1287	c.459A>G	c.(457-459)tcA>tcG	p.S153S	TLE4_ENST00000265284.6_Silent_p.S128S|TLE4_ENST00000455913.1_3'UTR|TLE4_ENST00000376537.4_Silent_p.S153S|TLE4_ENST00000376552.2_Silent_p.S153S|TLE4_ENST00000376534.4_5'UTR|TLE4_ENST00000376544.3_Silent_p.S153S	NM_001282748.1	NP_001269677.1	O60756	BCE1_HUMAN	transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila)	33										breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						CACACCCTTCAGGGCTCCAGC	0.527000													4	157					0	0	0.014758	0	0
GARNL3	84253	broad.mit.edu	37	9	130147318	130147318	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr9:130147318C>T	ENST00000373387.4	+	24	2634	c.2282C>T	c.(2281-2283)cCg>cTg	p.P761L	GARNL3_ENST00000496711.1_3'UTR|GARNL3_ENST00000435213.2_Missense_Mutation_p.P739L|GARNL3_ENST00000314904.5_Missense_Mutation_p.P761L	NM_032293.4	NP_115669.3	Q5VVW2	GARL3_HUMAN	GTPase activating Rap/RanGAP domain-like 3	761	CNH.				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity|small GTPase regulator activity			NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(24)|ovary(1)|skin(1)|urinary_tract(2)	41						TGTGCTTTCCCGTATCTCCTG	0.617000													24	65					0	0	0.021523	0	0
MUC6	4588	broad.mit.edu	37	11	1024858	1024858	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr11:1024858T>G	ENST00000421673.2	-	24	3261	c.3211A>C	c.(3211-3213)Acc>Ccc	p.T1071P		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1071	VWFD 3.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CTGTGGCAGGTGGCAAAGGTC	0.687000													5	18					0	0	0.003080	0	0
THBD	7056	broad.mit.edu	37	20	23029241	23029241	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr20:23029241C>T	ENST00000377103.2	-	1	1137	c.901G>A	c.(901-903)Gac>Aac	p.D301N		NM_000361.2	NP_000352.1	P07204	TRBM_HUMAN	thrombomodulin	301	EGF-like 2.				blood coagulation|leukocyte migration|negative regulation of fibrinolysis|negative regulation of platelet activation	cell surface|integral to plasma membrane	calcium ion binding|protein binding|transmembrane receptor activity			endometrium(2)|large_intestine(3)|ovary(1)|skin(1)	7	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)				Drotrecogin alfa(DB00055)	CCCGGCTGGTCGGGGTTGGGA	0.697000													13	17					0	0	0.013537	0	0
ARHGAP21	57584	broad.mit.edu	37	10	24880173	24880173	+	Silent	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr10:24880173G>A	ENST00000396432.2	-	24	4617	c.4131C>T	c.(4129-4131)gtC>gtT	p.V1377V	ARHGAP21_ENST00000320481.6_Silent_p.V1164V	NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	1376					signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						CTCCTGGGGAGACTCCTGTCC	0.438000													75	84					0	0	0.014410	0	0
MBD6	114785	broad.mit.edu	37	12	57918588	57918588	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr12:57918588C>T	ENST00000355673.3	+	4	555	c.199C>T	c.(199-201)Cca>Tca	p.P67S	MBD6_ENST00000431731.2_Missense_Mutation_p.P67S	NM_052897.3	NP_443129.3	Q96DN6	MBD6_HUMAN	methyl-CpG binding domain protein 6	67	MBD.					chromosome|nucleus	chromatin binding|DNA binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						TCTGGAGTGTCCACTTAATGT	0.542000													21	52					0	0	0.016522	0	0
DLG4	1742	broad.mit.edu	37	17	7121570	7121570	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr17:7121570G>C	ENST00000399510.2	-	3	1001	c.149C>G	c.(148-150)tCa>tGa	p.S50*	ACADVL_ENST00000543245.2_Intron	NM_001365.3	NP_001356.1	P78352	DLG4_HUMAN	discs, large homolog 4 (Drosophila)	244					axon guidance|learning|protein complex assembly|protein localization to synapse|signal transduction|synaptic transmission	cell junction|cortical cytoskeleton|endocytic vesicle membrane|neuron spine|postsynaptic density|postsynaptic membrane|synaptosome	protein binding|protein C-terminus binding			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)	18						CTGACTCTCTGAGAGGGAAGC	0.552000													9	13					0	0	0.016723	0	0
MAPK9	5601	broad.mit.edu	37	5	179696343	179696343	+	Missense_Mutation	SNP	G	G	T	rs148710250	by1000genomes	TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr5:179696343G>T	ENST00000452135.2	-	3	487	c.189C>A	c.(187-189)aaC>aaA	p.N63K	MAPK9_ENST00000397072.3_3'UTR|MAPK9_ENST00000455781.1_Missense_Mutation_p.N63K|MAPK9_ENST00000347470.4_Missense_Mutation_p.N63K|MAPK9_ENST00000539014.1_Missense_Mutation_p.N63K|MAPK9_ENST00000425491.2_Missense_Mutation_p.N63K|MAPK9_ENST00000393360.3_Missense_Mutation_p.N63K|MAPK9_ENST00000343111.6_Missense_Mutation_p.N63K			P45984	MK09_HUMAN	mitogen-activated protein kinase 9	63	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)			CATGAGTTTGGTTCTGAAAAG	0.348000													34	5					3.90053e-15	4.50998e-15	0.012213	1	0
PLD5	200150	broad.mit.edu	37	1	242383325	242383325	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr1:242383325C>A	ENST00000536534.2	-	5	941	c.700G>T	c.(700-702)Ggc>Tgc	p.G234C	PLD5_ENST00000442594.2_Missense_Mutation_p.G142C|PLD5_ENST00000427495.1_Missense_Mutation_p.G172C			Q8N7P1	PLD5_HUMAN	phospholipase D family, member 5		PLD phosphodiesterase 1.					integral to membrane	catalytic activity	p.G234C(1)|p.G142C(1)		breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(22)|ovary(6)|skin(3)|urinary_tract(1)	55	Melanoma(84;0.242)		OV - Ovarian serous cystadenocarcinoma(106;0.0329)			CCGGCACTGCCGATATACACG	0.517000													15	25					4.7546e-09	5.37161e-09	0.004007	1	0
DZIP3	9666	broad.mit.edu	37	3	108343354	108343354	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr3:108343354G>A	ENST00000361582.3	+	6	669	c.439G>A	c.(439-441)Gaa>Aaa	p.E147K	DZIP3_ENST00000463306.1_Missense_Mutation_p.E147K	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN	DAZ interacting zinc finger protein 3	147					protein polyubiquitination	cytoplasm	polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						AGCACTCACTGAAAGAGGAAA	0.279000													12	33					0	0	0.013537	0	0
CALCRL	10203	broad.mit.edu	37	2	188245285	188245285	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr2:188245285T>C	ENST00000409998.1	-	8	1098	c.317A>G	c.(316-318)gAc>gGc	p.D106G	AC007319.1_ENST00000412276.1_RNA|AC007319.1_ENST00000453517.1_RNA|CALCRL_ENST00000410068.1_Missense_Mutation_p.D106G|CALCRL_ENST00000392370.3_Missense_Mutation_p.D106G			Q16602	CALRL_HUMAN	calcitonin receptor-like	106						integral to plasma membrane				endometrium(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(96;0.227)			TCCATCTTGGTCACAGATCTT	0.328000													35	86					0	0	0.015359	0	0
LIN28A	79727	broad.mit.edu	37	1	26752761	26752761	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr1:26752761C>T	ENST00000326279.6	+	4	556	c.442C>T	c.(442-444)Cat>Tat	p.H148Y	LIN28A_ENST00000254231.4_Missense_Mutation_p.H148Y	NM_024674.4	NP_078950.1	Q9H9Z2	LN28A_HUMAN	lin-28 homolog A (C. elegans)	148					miRNA catabolic process|pre-miRNA processing|regulation of transcription, DNA-dependent|RNA 3'-end processing|stem cell maintenance	cytoplasmic mRNA processing body|nucleolus|stress granule	DNA binding|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)	8						TCTAGATCATCATGCCAAGGA	0.527000													21	65					0	0	0.018920	0	0
MUC2	4583	broad.mit.edu	37	11	1083168	1083168	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr11:1083168G>C	ENST00000441003.2	+	16	2095	c.2068G>C	c.(2068-2070)Gag>Cag	p.E690Q	MUC2_ENST00000359061.5_Missense_Mutation_p.E690Q	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	690						inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	CCACTGTCTCGAGGGCTTTGC	0.662000													14	17					0	0	0.006122	0	0
FAM46B	115572	broad.mit.edu	37	1	27332436	27332436	+	Nonstop_Mutation	SNP	C	C	G			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr1:27332436C>G	ENST00000289166.5	-	2	1442	c.1277G>C	c.(1276-1278)tGa>tCa	p.*426S		NM_052943.3	NP_443175.2	Q96A09	FA46B_HUMAN	family with sequence similarity 46, member B	0										breast(1)|central_nervous_system(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	10		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;7.71e-51)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-29)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|STAD - Stomach adenocarcinoma(196;0.00114)|READ - Rectum adenocarcinoma(331;0.0419)		GGGTCTGAGTCAGTTACAAGG	0.622000													81	54					0	0	0.014410	0	0
PRAMEF11	440560	broad.mit.edu	37	1	12887606	12887606	+	Missense_Mutation	SNP	C	C	G	rs58074988		TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr1:12887606C>G	ENST00000535591.1	-	3	446	c.251G>C	c.(250-252)tGc>tCc	p.C84S		NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	84								p.C84S(1)		NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						ATTGAGGAAGCACCCATGGGC	0.483000													4	356					0	0	0.014758	0	0
ERBB2	2064	broad.mit.edu	37	17	37879903	37879903	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr17:37879903C>T	ENST00000406381.2	+	20	2618	c.2108C>T	c.(2107-2109)aCa>aTa	p.T703I	ERBB2_ENST00000541774.1_Missense_Mutation_p.T718I|ERBB2_ENST00000540147.1_Missense_Mutation_p.T703I|ERBB2_ENST00000445658.2_Missense_Mutation_p.T457I|ERBB2_ENST00000269571.5_Missense_Mutation_p.T733I|ERBB2_ENST00000584450.1_Missense_Mutation_p.T733I|ERBB2_ENST00000584601.1_Missense_Mutation_p.T703I	NM_001005862.1	NP_001005862.1	P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	733					cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.T733I(1)		NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)	GCTTTTGGCACAGTCTACAAG	0.637000		1	"""A, Mis, O"""		"""breast, ovarian, other tumour types, NSCLC, gastric"""					TCGA GBM(5;<1E-08)			103	7					0	0	0.014410	0	0
LIMS1	3987	broad.mit.edu	37	2	109292446	109292446	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr2:109292446C>G	ENST00000393310.1	+	6	774	c.607C>G	c.(607-609)Cgc>Ggc	p.R203G	LIMS1_ENST00000410093.1_Missense_Mutation_p.R207G|LIMS1_ENST00000338045.3_Missense_Mutation_p.R203G|LIMS1_ENST00000544547.1_Missense_Mutation_p.R215G|LIMS1_ENST00000409441.1_Missense_Mutation_p.R240G|LIMS1_ENST00000542845.1_Missense_Mutation_p.R265G|LIMS1_ENST00000332345.6_Missense_Mutation_p.R203G	NM_001193488.1	NP_001180417.1	P48059	LIMS1_HUMAN	LIM and senescent cell antigen-like domains 1	203	LIM zinc-binding 4.				cell aging|cell junction assembly|cellular response to transforming growth factor beta stimulus|negative regulation of transcription, DNA-dependent	cytosol|focal adhesion|perinuclear region of cytoplasm	protein binding|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	10						CATCGAAGGGCGCGTGGTGAA	0.542000													43	26					0	0	0.007835	0	0
HIP1	3092	broad.mit.edu	37	7	75178225	75178225	+	Silent	SNP	A	A	C			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr7:75178225A>C	ENST00000336926.6	-	23	2396	c.2370T>G	c.(2368-2370)acT>acG	p.T790T	HIP1_ENST00000434438.2_Silent_p.T790T	NM_005338.5	NP_005329.3	O00291	HIP1_HUMAN	huntingtin interacting protein 1	790	I/LWEQ.				activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	clathrin coated vesicle membrane|cytoskeleton|Golgi apparatus|membrane fraction|nucleus	actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton			breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						TAGCAGCTGAAGTGGCCGCCA	0.567000			T	PDGFRB	CMML								62	134					0	0	0.014410	0	0
GTF2A1	2957	broad.mit.edu	37	14	81662522	81662522	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr14:81662522G>A	ENST00000553612.1	-	6	945	c.542C>T	c.(541-543)tCa>tTa	p.S181L	GTF2A1_ENST00000434192.2_Missense_Mutation_p.S142L	NM_001278940.1|NM_015859.3	NP_001265869.1|NP_056943.1	P52655	TF2AA_HUMAN	general transcription factor IIA, 1, 19/37kDa	181					regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|transcription factor TFIIA complex	DNA binding|protein binding|protein heterodimerization activity|TBP-class protein binding|transcription coactivator activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	12				BRCA - Breast invasive adenocarcinoma(234;0.0287)		TAGAACCACTGACTGCTGAGG	0.423000													55	21					0	0	0.014410	0	0
DUSP14	11072	broad.mit.edu	37	17	35872428	35872428	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr17:35872428G>A	ENST00000487847.1	+	2	1032	c.54G>A	c.(52-54)atG>atA	p.M18I	DUSP14_ENST00000394389.4_Missense_Mutation_p.M18I|DUSP14_ENST00000394386.1_Missense_Mutation_p.M18I			O95147	DUS14_HUMAN	dual specificity phosphatase 14	18							MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|urinary_tract(1)	9		Breast(25;0.00637)|Ovarian(249;0.15)				CCCCTCGGATGATTTCCGAGG	0.577000													51	31					0	0	0.014410	0	0
ZNF138	7697	broad.mit.edu	37	7	64292295	64292295	+	Silent	SNP	T	T	C			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr7:64292295T>C	ENST00000359735.3	+	4	851	c.504T>C	c.(502-504)tgT>tgC	p.C168C	ZNF138_ENST00000440155.2_Silent_p.C199C|ZNF138_ENST00000397136.2_Silent_p.C168C|ZNF138_ENST00000430838.2_3'UTR|ZNF138_ENST00000437743.1_Silent_p.C193C|ZNF138_ENST00000440598.1_3'UTR|ZNF138_ENST00000307355.7_Silent_p.C225C	NM_001271637.1|NM_001271639.1	NP_001258566.1|NP_001258568.1	B4DP87	B4DP87_HUMAN	zinc finger protein 138	199					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			kidney(1)|large_intestine(3)|lung(2)|stomach(1)	7		Lung NSC(55;0.0795)|all_lung(88;0.18)				CCTACAAATGTGAAGTATGTG	0.358000													27	33					0	0	0.006320	0	0
KLHDC3	116138	broad.mit.edu	37	6	42985893	42985893	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr6:42985893T>G	ENST00000326974.4	+	5	653	c.458T>G	c.(457-459)tTt>tGt	p.F153C	KLHDC3_ENST00000332245.8_Missense_Mutation_p.F94C|KLHDC3_ENST00000244670.8_Missense_Mutation_p.F19C	NM_057161.3	NP_476502.1	Q9BQ90	KLDC3_HUMAN	kelch domain containing 3	153					reciprocal meiotic recombination	cytoplasm|nuclear chromatin	chromatin binding|protein binding			cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	9			Colorectal(64;0.00237)|all cancers(41;0.0034)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0539)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			GCGGACTGTTTTTCCAATGAC	0.473000													62	38					0	0	0.014410	0	0
NEK10	152110	broad.mit.edu	37	3	27326126	27326126	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr3:27326126T>C	ENST00000429845.2	-	23	2343	c.1981A>G	c.(1981-1983)Att>Gtt	p.I661V	NEK10_ENST00000357467.2_Missense_Mutation_p.I58V|NEK10_ENST00000341435.5_Missense_Mutation_p.I661V			Q6ZWH5	NEK10_HUMAN	NIMA-related kinase 10	661	Protein kinase.						ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						CCCAACATAATGTTGTTTGGT	0.338000													39	55					0	0	0.013114	0	0
TIMM17A	10440	broad.mit.edu	37	1	201932815	201932815	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr1:201932815G>A	ENST00000367287.4	+	4	298	c.262G>A	c.(262-264)Gat>Aat	p.D88N	TIMM17A_ENST00000482943.1_3'UTR	NM_006335.2	NP_006326.1	Q99595	TI17A_HUMAN	translocase of inner mitochondrial membrane 17 homolog A (yeast)	88					protein targeting to mitochondrion	integral to membrane|mitochondrial inner membrane presequence translocase complex	P-P-bond-hydrolysis-driven protein transmembrane transporter activity			kidney(1)|lung(3)|stomach(1)	5						AGGAAAGGAAGATCCCTGGAA	0.418000													18	20					0	0	0.004990	0	0
CBLL1	79872	broad.mit.edu	37	7	107398668	107398668	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr7:107398668G>A	ENST00000440859.3	+	6	988	c.521G>A	c.(520-522)aGa>aAa	p.R174K	CBLL1_ENST00000415884.2_3'UTR|CBLL1_ENST00000222597.2_Missense_Mutation_p.R173K	NM_001284291.1|NM_024814.2	NP_001271220.1|NP_079090.2	Q75N03	HAKAI_HUMAN	Cbl proto-oncogene-like 1, E3 ubiquitin protein ligase						cell-cell adhesion|negative regulation of cell adhesion|positive regulation of cell migration|positive regulation of endocytosis		protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(3)	21						GGGTGCAAGAGAACATATTTG	0.433000													15	52					0	0	0.004007	0	0
DNASE1L3	1776	broad.mit.edu	37	3	58178462	58178462	+	Silent	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr3:58178462G>A	ENST00000318316.3	-	10	1354	c.870C>T	c.(868-870)agC>agT	p.S290S	DNASE1L3_ENST00000394549.2_Silent_p.S290S|DNASE1L3_ENST00000483681.1_3'UTR|DNASE1L3_ENST00000486455.1_Silent_p.S260S			Q13609	DNSL3_HUMAN	deoxyribonuclease I-like 3	290					apoptosis|DNA catabolic process	nucleus	calcium ion binding|DNA binding|endodeoxyribonuclease activity, producing 5'-phosphomonoesters			breast(2)|large_intestine(4)|lung(6)	12				BRCA - Breast invasive adenocarcinoma(55;0.00021)|KIRC - Kidney renal clear cell carcinoma(284;0.0445)|Kidney(284;0.0556)|OV - Ovarian serous cystadenocarcinoma(275;0.202)		CAGATTTTTTGCTGTTGGTGA	0.423000													30	82					0	0	0.008361	0	0
TTN	7273	broad.mit.edu	37	2	179433786	179433786	+	Silent	SNP	A	A	G			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr2:179433786A>G	ENST00000589042.1	-	326	77297	c.77073T>C	c.(77071-77073)gaT>gaC	p.D25691D	TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Silent_p.D16626D|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Silent_p.D16751D|TTN_ENST00000342992.6_Silent_p.D23123D|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000591111.1_Silent_p.D24050D|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342175.6_Silent_p.D16818D|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	24050	Ig-like 125.						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)			CCTTAATTGGATCAGCAGTCT	0.438000													34	79					0	0	0.013726	0	0
ZNF45	7596	broad.mit.edu	37	19	44418655	44418655	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr19:44418655C>G	ENST00000269973.5	-	10	2023	c.933G>C	c.(931-933)aaG>aaC	p.K311N	RP11-15A1.2_ENST00000586247.1_RNA|ZNF45_ENST00000589703.1_Missense_Mutation_p.K311N	NM_003425.3	NP_003416.1	Q02386	ZNF45_HUMAN	zinc finger protein 45	311					multicellular organismal development	nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	17						AACTGAAGCTCTTCCCACACT	0.468000													16	47					0	0	0.003163	0	0
ARAP1	116985	broad.mit.edu	37	11	72420989	72420989	+	Missense_Mutation	SNP	G	G	C	rs77842696	byFrequency	TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr11:72420989G>C	ENST00000359373.5	-	11	2300	c.1449C>G	c.(1447-1449)atC>atG	p.I483M	ARAP1_ENST00000393605.3_Missense_Mutation_p.I243M|ARAP1_ENST00000426523.1_Missense_Mutation_p.I238M|ARAP1_ENST00000393609.3_Missense_Mutation_p.I483M|ARAP1_ENST00000429686.1_Missense_Mutation_p.I238M|ARAP1_ENST00000455638.2_Missense_Mutation_p.I483M|ARAP1_ENST00000334211.8_Missense_Mutation_p.I238M			Q96P48	ARAP1_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1	483	PH 2.				actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction	cytosol|Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|Rho GTPase activator activity|zinc ion binding			cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						CGCTCATGTCGATGAAGGTGA	0.622000													34	64					0	0	0.012213	0	0
CYTIP	9595	broad.mit.edu	37	2	158272436	158272436	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr2:158272436G>A	ENST00000264192.3	-	8	954	c.833C>T	c.(832-834)aCg>aTg	p.T278M	CYTIP_ENST00000540637.1_Missense_Mutation_p.T172M	NM_004288.4	NP_004279.3	O60759	CYTIP_HUMAN	cytohesin 1 interacting protein	278	Ser-rich.			T -> Q (in Ref. 5; AAA16575).	regulation of cell adhesion	cell cortex|early endosome	protein binding			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	15						ATCTGTACTCGTCTGCCGACT	0.542000													20	50					0	0	0.007413	0	0
LMTK3	114783	broad.mit.edu	37	19	49005723	49005723	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr19:49005723A>G	ENST00000600059.1	-	7	988	c.761T>C	c.(760-762)cTg>cCg	p.L254P	LMTK3_ENST00000270238.3_Missense_Mutation_p.L283P					lemur tyrosine kinase 3											breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1)	16		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)		CAGGTGCGCCAGCCCGCGGGC	0.711000													11	70					0	0	0.010729	0	0
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1																						TCATCTCGCAATGCAAGGAAA	0.453000													3	66					0	0	0.004672	0	0
ZNF594	84622	broad.mit.edu	37	17	5087090	5087090	+	Silent	SNP	T	T	G			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr17:5087090T>G	ENST00000399604.4	-	1	602	c.462A>C	c.(460-462)ccA>ccC	p.P154P	ZNF594_ENST00000575779.1_Silent_p.P154P			Q96JF6	ZN594_HUMAN	zinc finger protein 594	154					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						TACACACATATGGCTTATTTC	0.303000													22	55					0	0	0.016522	0	0
USP38	84640	broad.mit.edu	37	4	144135055	144135055	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr4:144135055T>G	ENST00000307017.4	+	9	2432	c.1926T>G	c.(1924-1926)gaT>gaG	p.D642E	USP38_ENST00000510377.1_Missense_Mutation_p.D642E	NM_032557.5	NP_115946.2	Q8NB14	UBP38_HUMAN	ubiquitin specific peptidase 38	642					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3)	33	all_hematologic(180;0.158)					GTATACAAGATGGTGGTCTAA	0.438000													56	124					0	0	0.014410	0	0
GPR64	10149	broad.mit.edu	37	X	19014182	19014182	+	Silent	SNP	C	C	G			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chrX:19014182C>G	ENST00000354791.3	-	26	2896	c.2655G>C	c.(2653-2655)ctG>ctC	p.L885L	GPR64_ENST00000357544.3_Silent_p.L871L|GPR64_ENST00000340581.3_Silent_p.L782L|GPR64_ENST00000356606.4_Silent_p.L887L|GPR64_ENST00000379873.2_Silent_p.L901L|GPR64_ENST00000379876.1_Silent_p.L877L|GPR64_ENST00000357991.3_Silent_p.L898L|GPR64_ENST00000360279.4_Silent_p.L879L|GPR64_ENST00000379869.3_Silent_p.L901L|GPR64_ENST00000379878.3_Silent_p.L885L			Q8IZP9	GPR64_HUMAN	G protein-coupled receptor 64	901					neuropeptide signaling pathway|spermatogenesis	cytoplasm|integral to plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(18)|stomach(1)|urinary_tract(1)	42	Hepatocellular(33;0.183)					AATTTTCAGCCAGCCGTAACT	0.363000													50	16					0	0	0.014410	0	0
EFCAB14	9813	broad.mit.edu	37	1	47181986	47181986	+	Silent	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr1:47181986G>A	ENST00000371933.3	-	2	1291	c.315C>T	c.(313-315)ctC>ctT	p.L105L	EFCAB14_ENST00000544071.1_Silent_p.L105L	NM_014774.2	NP_055589.1			EF-hand calcium binding domain 14																		ATTTTTCCTTGAGGGCATCCA	0.443000													11	27					0	0	0.008291	0	0
KIF21B	23046	broad.mit.edu	37	1	200954055	200954055	+	Silent	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr1:200954055C>T	ENST00000332129.2	-	27	4051	c.3735G>A	c.(3733-3735)cgG>cgA	p.R1245R	KIF21B_ENST00000360529.5_Silent_p.R1245R|KIF21B_ENST00000461742.2_Silent_p.R1245R|KIF21B_ENST00000422435.2_Silent_p.R1245R	NM_001252102.1|NM_001252103.1|NM_017596.3	NP_001239031.1|NP_001239032.1|NP_060066.2	O75037	KI21B_HUMAN	kinesin family member 21B	1245					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						CATTGCGGGGCCGAGTGGGAG	0.627000													20	41					0	0	0.010504	0	0
BIRC6	57448	broad.mit.edu	37	2	32738107	32738107	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr2:32738107G>T	ENST00000421745.2	+	54	10588	c.10454G>T	c.(10453-10455)gGt>gTt	p.G3485V		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	3485					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					GTAGAGTATGGTCTTCTGATG	0.453000													9	82					0.000274275	0.000299209	0.004482	1	0
DCK	1633	broad.mit.edu	37	4	71863897	71863897	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr4:71863897G>A	ENST00000286648.5	+	2	602	c.205G>A	c.(205-207)Gag>Aag	p.E69K	DCK_ENST00000504952.1_Missense_Mutation_p.E69K|DCK_ENST00000504730.1_Missense_Mutation_p.E69K|MOB1B_ENST00000511449.1_3'UTR	NM_000788.2	NP_000779.1	P27707	DCK_HUMAN	deoxycytidine kinase	69					purine base metabolic process|purine-containing compound salvage|pyrimidine base metabolic process|pyrimidine nucleoside salvage|pyrimidine nucleotide metabolic process	cytosol|nucleus	ATP binding|deoxycytidine kinase activity|drug binding|phosphotransferase activity, alcohol group as acceptor|protein homodimerization activity			endometrium(2)|large_intestine(3)|lung(3)|ovary(1)	9			Lung(101;0.235)		Cladribine(DB00242)|Clofarabine(DB00631)|Decitabine(DB01262)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Pemetrexed(DB00642)|Zalcitabine(DB00943)	AGATGAATTTGAGGTATGAAA	0.318000													21	28					0	0	0.014323	0	0
SPTB	6710	broad.mit.edu	37	14	65233430	65233430	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr14:65233430G>A	ENST00000542895.1	-	32	6455	c.6359C>T	c.(6358-6360)tCt>tTt	p.S2120F	SPTB_ENST00000389720.3_Silent_p.V2103V|SPTB_ENST00000556626.1_Intron|SPTB_ENST00000389721.5_Missense_Mutation_p.S2120F|SPTB_ENST00000389722.3_Intron			P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	2120					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)		AGACAAACGAGACCAGAGACT	0.632000													126	35					0	0	0.014410	0	0
TLR10	81793	broad.mit.edu	37	4	38776209	38776209	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr4:38776209T>G	ENST00000308973.4	-	4	1608	c.1003A>C	c.(1003-1005)Aat>Cat	p.N335H	TLR10_ENST00000506111.1_Missense_Mutation_p.N335H|TLR10_ENST00000508334.1_Missense_Mutation_p.N335H|TLR10_ENST00000361424.2_Missense_Mutation_p.N335H	NM_001017388.2|NM_001195107.1|NM_030956.3	NP_001017388.1|NP_001182036.1|NP_112218.2	Q9BXR5	TLR10_HUMAN	toll-like receptor 10	335					inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane	transmembrane receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(2)	25						ATTTGTGCATTTGATATTGTC	0.308000													22	20					0	0	0.012319	0	0
RELN	5649	broad.mit.edu	37	7	103214579	103214579	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr7:103214579T>C	ENST00000424685.2	-	30	4630	c.4471A>G	c.(4471-4473)Agg>Ggg	p.R1491G	RELN_ENST00000343529.5_Missense_Mutation_p.R1491G|RELN_ENST00000428762.1_Missense_Mutation_p.R1491G			P78509	RELN_HUMAN	reelin	1491					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CGGGCTTCCCTTTTCCCAGGG	0.468000													3	119					0	0	0.009096	0	0
PTH2	113091	broad.mit.edu	37	19	49925885	49925885	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr19:49925885C>T	ENST00000270631.1	-	2	244	c.143G>A	c.(142-144)gGa>gAa	p.G48E		NM_178449.3	NP_848544.1	Q96A98	TIP39_HUMAN	parathyroid hormone 2	48					neuropeptide signaling pathway	extracellular region				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|skin(1)	6				OV - Ovarian serous cystadenocarcinoma(262;0.0015)|GBM - Glioblastoma multiforme(486;0.044)|Lung(386;0.0785)|LUSC - Lung squamous cell carcinoma(496;0.0836)		CCAGGCCCGTCCTGGGGGGCG	0.756000													5	6					0	0	0.014758	0	0
AOAH	313	broad.mit.edu	37	7	36671706	36671706	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr7:36671706A>C	ENST00000431169.1	-	6	757	c.457T>G	c.(457-459)Tct>Gct	p.S153A	AOAH_ENST00000258749.5_Missense_Mutation_p.S153A|AOAH_ENST00000535891.1_Missense_Mutation_p.S121A	NM_001177506.1	NP_001170977.1	P28039	AOAH_HUMAN	acyloxyacyl hydrolase (neutrophil)	153					inflammatory response|lipid metabolic process	extracellular region	acyloxyacyl hydrolase activity|lipoprotein lipase activity			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(21)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	41						CCACTTCTAGAATATTTCTGG	0.393000													6	12					0	0	0.001984	0	0
FAM169B	283777	broad.mit.edu	37	15	98995120	98995120	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr15:98995120C>T	ENST00000558256.1	-	5	553	c.304G>A	c.(304-306)Gag>Aag	p.E102K	FAM169B_ENST00000332908.4_Missense_Mutation_p.E102K	NM_182562.2	NP_872368.2	Q8N8A8	F169B_HUMAN	family with sequence similarity 169, member B	102										large_intestine(3)|lung(3)|urinary_tract(1)	7						GGGAATGTCTCACAGAAGTCC	0.572000													14	5					0	0	0.020292	0	0
CTNNA2	1496	broad.mit.edu	37	2	80646672	80646672	+	Silent	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr2:80646672G>A	ENST00000466387.1	+	13	1960	c.1236G>A	c.(1234-1236)aaG>aaA	p.K412K	CTNNA2_ENST00000540488.1_Silent_p.K412K|CTNNA2_ENST00000496558.1_Silent_p.K412K|CTNNA2_ENST00000361291.4_Silent_p.K446K|CTNNA2_ENST00000402739.4_Silent_p.K412K|CTNNA2_ENST00000343114.3_Silent_p.K91K|CTNNA2_ENST00000541047.1_Silent_p.K412K			P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	412					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton	p.E413*(1)		breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						GAAATGAAAAGGAAGTGAAAG	0.453000													24	64					0	0	0.018920	0	0
CDH16	1014	broad.mit.edu	37	16	66946442	66946442	+	Missense_Mutation	SNP	T	T	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr16:66946442T>A	ENST00000299752.4	-	11	1517	c.1324A>T	c.(1324-1326)Atc>Ttc	p.I442F	CDH16_ENST00000565796.1_Missense_Mutation_p.I442F|CDH16_ENST00000568632.1_Missense_Mutation_p.I345F|CDH16_ENST00000570262.1_Missense_Mutation_p.I362F|CDH16_ENST00000394055.3_Missense_Mutation_p.I442F	NM_001204744.1|NM_001204745.1|NM_004062.3	NP_001191673.1|NP_001191674.1|NP_004053.1	O75309	CAD16_HUMAN	cadherin 16, KSP-cadherin	442	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)		TGATCATTGATATCTGTGACT	0.597000													12	47					0	0	0.016723	0	0
FAM45B	55855	broad.mit.edu	37	X	129629498	129629498	+	RNA	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chrX:129629498G>A	ENST00000458525.1	-	0	1015				FAM45B_ENST00000592932.1_RNA																							CAGTTAAAATGATGGAGAGTT	0.443000													84	15					0	0	0.014410	0	0
PHLDB3	653583	broad.mit.edu	37	19	44008260	44008260	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr19:44008260C>T	ENST00000292140.5	-	2	371	c.11G>A	c.(10-12)cGa>cAa	p.R4Q	PHLDB3_ENST00000599242.1_Missense_Mutation_p.R4Q	NM_198850.3	NP_942147.3	Q6NSJ2	PHLB3_HUMAN	pleckstrin homology-like domain, family B, member 3	4										breast(1)|central_nervous_system(1)|lung(5)	7		Prostate(69;0.0153)				GGGGCTGCTTCGCGTCCCCAT	0.756000													14	6					0	0	0.020292	0	0
RGS3	5998	broad.mit.edu	37	9	116356425	116356425	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr9:116356425T>C	ENST00000462403.1	+	1	660	c.226T>C	c.(226-228)Ttc>Ctc	p.F76L	RGS3_ENST00000343817.5_Intron|RGS3_ENST00000342620.5_Intron|RGS3_ENST00000462143.1_Intron|RGS3_ENST00000394646.3_Intron|RGS3_ENST00000374140.2_Intron|RGS3_ENST00000374134.3_Intron|RGS3_ENST00000350696.5_Intron	NM_144489.2	NP_652760.2	P49796	RGS3_HUMAN	regulator of G-protein signaling 3	485					inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	cytosol|nucleus|plasma membrane	GTPase activator activity|signal transducer activity			cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						CAGGCCAGGATTCCAGAGAGC	0.642000													32	109					0	0	0.010818	0	0
TNFRSF25	8718	broad.mit.edu	37	1	6524508	6524508	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr1:6524508G>A	ENST00000377782.3	-	5	536	c.469C>T	c.(469-471)Cgc>Tgc	p.R157C	TNFRSF25_ENST00000348333.3_Missense_Mutation_p.R112C|TNFRSF25_ENST00000351959.5_Missense_Mutation_p.R157C|TNFRSF25_ENST00000356876.3_Missense_Mutation_p.R157C|TNFRSF25_ENST00000461703.2_5'UTR|TNFRSF25_ENST00000351748.3_Intron	NM_148965.1	NP_683866.1	Q93038	TNR25_HUMAN	tumor necrosis factor receptor superfamily, member 25	157					apoptosis|induction of apoptosis by extracellular signals	cytosol|extracellular region|integral to plasma membrane	tumor necrosis factor receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|lung(4)|prostate(1)|stomach(1)	10	Ovarian(185;0.0386)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Acute lymphoblastic leukemia(12;0.00157)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)		Epithelial(90;4.58e-35)|GBM - Glioblastoma multiforme(13;3.06e-27)|Colorectal(212;6.01e-08)|COAD - Colon adenocarcinoma(227;1.3e-05)|Kidney(185;4.88e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000871)|BRCA - Breast invasive adenocarcinoma(365;0.00105)|STAD - Stomach adenocarcinoma(132;0.00158)|READ - Rectum adenocarcinoma(331;0.0419)		GTATCTCTGCGGGAACCTGCA	0.607000													11	6					0	0	0.013537	0	0
HIP1	3092	broad.mit.edu	37	7	75178216	75178216	+	Silent	SNP	A	A	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr7:75178216A>T	ENST00000336926.6	-	23	2405	c.2379T>A	c.(2377-2379)gcT>gcA	p.A793A	HIP1_ENST00000434438.2_Silent_p.A793A	NM_005338.5	NP_005329.3	O00291	HIP1_HUMAN	huntingtin interacting protein 1	793	I/LWEQ.				activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	clathrin coated vesicle membrane|cytoskeleton|Golgi apparatus|membrane fraction|nucleus	actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton			breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						CAGTTTCAATAGCAGCTGAAG	0.552000			T	PDGFRB	CMML								59	139					0	0	0.014410	0	0
AMBRA1	55626	broad.mit.edu	37	11	46419037	46419037	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr11:46419037T>C	ENST00000458649.2	-	18	4278	c.3860A>G	c.(3859-3861)gAc>gGc	p.D1287G	AMBRA1_ENST00000314845.3_Missense_Mutation_p.D1197G|AMBRA1_ENST00000533727.1_Missense_Mutation_p.D1168G|AMBRA1_ENST00000528950.1_Missense_Mutation_p.D1258G|AMBRA1_ENST00000298834.3_Missense_Mutation_p.D1227G|AMBRA1_ENST00000426438.1_Missense_Mutation_p.D1258G|AMBRA1_ENST00000534300.1_Missense_Mutation_p.D1227G			Q9C0C7	AMRA1_HUMAN	autophagy/beclin-1 regulator 1	1287					autophagy|cell differentiation|nervous system development	autophagic vacuole|cytoplasmic vesicle				NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		GCCTGCAGCGTCCCCCCTGCT	0.602000													3	79					0	0	0.009096	0	0
SETD2	29072	broad.mit.edu	37	3	47162291	47162291	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr3:47162291C>T	ENST00000409792.3	-	3	3877	c.3835G>A	c.(3835-3837)Gga>Aga	p.G1279R		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	1279					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)		CCACAAGCTCCATAGCTACTG	0.473000			"""N, F, S, Mis"""		clear cell renal carcinoma								24	50					0	0	0.004656	0	0
MUC6	4588	broad.mit.edu	37	11	1028662	1028662	+	Silent	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr11:1028662G>A	ENST00000421673.2	-	13	1625	c.1575C>T	c.(1573-1575)ttC>ttT	p.F525F		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	525	VWFD 2.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TCTGACCTCTGAACTGGGGCC	0.627000													9	3					0	0	0.006214	0	0
OR11H4	390442	broad.mit.edu	37	14	20711591	20711591	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr14:20711591C>G	ENST00000315409.2	+	1	694	c.641C>G	c.(640-642)tCc>tGc	p.S214C		NM_001004479.1	NP_001004479.1	Q8NGC9	O11H4_HUMAN	olfactory receptor, family 11, subfamily H, member 4	214					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	29	all_cancers(95;0.000888)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0146)		ACTCAGAGCTCCCTTGTCCTC	0.443000													21	159					0	0	0.008871	0	0
CCND3	896	broad.mit.edu	37	6	41908297	41908297	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr6:41908297C>G	ENST00000372987.4	-	2	594	c.75G>C	c.(73-75)gaG>gaC	p.E25D	CCND3_ENST00000510503.1_5'UTR|CCND3_ENST00000414200.2_Intron|CCND3_ENST00000511642.1_5'UTR|CCND3_ENST00000415497.2_Intron|CCND3_ENST00000511686.1_Intron|CCND3_ENST00000372991.4_Missense_Mutation_p.E75D|CCND3_ENST00000372988.4_5'UTR			P30281	CCND3_HUMAN	cyclin D3	75					cell division|positive regulation of cyclin-dependent protein kinase activity|positive regulation of protein phosphorylation	cyclin-dependent protein kinase holoenzyme complex|cytoplasm|membrane|nucleus	protein kinase binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(13)|kidney(1)|large_intestine(1)|lung(2)|skin(1)	20	Colorectal(47;0.121)		Epithelial(12;0.000178)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			GGAAGACTTCCTCCTCACAGC	0.647000			T	IGH@	MM								37	38					0	0	0.005524	0	0
MYH3	4621	broad.mit.edu	37	17	10545784	10545784	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr17:10545784G>C	ENST00000583535.1	-	16	1925	c.1838C>G	c.(1837-1839)tCt>tGt	p.S613C	MYH3_ENST00000226209.7_Missense_Mutation_p.S613C	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	613	Myosin head-like.				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						CCTGTTGGAAGACTTCTGGTA	0.542000													48	22					0	0	0.014410	0	0
CDC25B	994	broad.mit.edu	37	20	3781635	3781635	+	Silent	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr20:3781635G>A	ENST00000245960.5	+	7	1297	c.600G>A	c.(598-600)aaG>aaA	p.K200K	CDC25B_ENST00000379598.5_Silent_p.K136K|CDC25B_ENST00000467519.1_3'UTR|CDC25B_ENST00000344256.6_Silent_p.K136K|CDC25B_ENST00000439880.2_Silent_p.K186K|CDC25B_ENST00000340833.4_Silent_p.K159K	NM_004358.3|NM_021872.2|NM_021873.2	NP_004349.1|NP_068658.1|NP_068659.1	P30305	MPIP2_HUMAN	cell division cycle 25B	200					cell division|G2/M transition of mitotic cell cycle|mitosis|positive regulation of cell proliferation	cytosol|microtubule organizing center|nucleoplasm	protein binding|protein tyrosine phosphatase activity			NS(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(1)	18						TTGTCTTCAAGATGCCATGGA	0.637000													13	24					0	0	0.013537	0	0
C4orf29	80167	broad.mit.edu	37	4	128930328	128930328	+	Missense_Mutation	SNP	T	T	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr4:128930328T>A	ENST00000388795.5	+	6	581	c.178T>A	c.(178-180)Ttg>Atg	p.L60M	C4orf29_ENST00000398965.1_Missense_Mutation_p.L142M|C4orf29_ENST00000444616.1_Missense_Mutation_p.L142M			Q0P651	CD029_HUMAN	chromosome 4 open reading frame 29	142						extracellular region				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	8						GGCTTCTTTATTGTTAGAAAA	0.333000													7	11					0	0	0.004482	0	0
DST	667	broad.mit.edu	37	6	56458781	56458781	+	Missense_Mutation	SNP	A	A	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr6:56458781A>T	ENST00000370754.5	-	48	12312	c.12313T>A	c.(12313-12315)Tta>Ata	p.L4105I	DST_ENST00000421834.2_Missense_Mutation_p.L1839I|DST_ENST00000361203.3_Missense_Mutation_p.L3925I|DST_ENST00000370769.4_Missense_Mutation_p.L3927I|DST_ENST00000244364.6_Missense_Mutation_p.L1513I|DST_ENST00000446842.2_Missense_Mutation_p.L3601I|DST_ENST00000312431.6_Missense_Mutation_p.L3925I|DST_ENST00000370788.2_Missense_Mutation_p.L1839I			Q03001	DYST_HUMAN	dystonin	3925					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)			AACTTTTCTAATTCTTCCTGC	0.423000													42	45					0	0	0.008740	0	0
GSX2	170825	broad.mit.edu	37	4	54967810	54967810	+	Silent	SNP	G	G	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr4:54967810G>T	ENST00000326902.2	+	2	950	c.636G>T	c.(634-636)acG>acT	p.T212T	GSX2_ENST00000548609.1_3'UTR|FIP1L1_ENST00000507166.1_Intron|GSX2_ENST00000503800.1_3'UTR	NM_133267.2	NP_573574.1	Q9BZM3	GSX2_HUMAN	GS homeobox 2	212						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(2)|lung(2)	6	all_cancers(7;0.00671)|Lung NSC(11;0.0154)|all_neural(26;0.0209)|Glioma(25;0.08)|all_epithelial(27;0.147)		LUSC - Lung squamous cell carcinoma(32;0.00216)			TCACTAGCACGCAACTCCTGG	0.572000													29	34					2.12542e-12	2.42592e-12	0.006320	1	0
KBTBD6	89890	broad.mit.edu	37	13	41706188	41706188	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr13:41706188C>T	ENST00000379485.1	-	1	694	c.460G>A	c.(460-462)Gaa>Aaa	p.E154K	KBTBD6_ENST00000499385.2_Missense_Mutation_p.E88K	NM_152903.4	NP_690867.3	Q86V97	KBTB6_HUMAN	kelch repeat and BTB (POZ) domain containing 6	154							protein binding			NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4)	43		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)		CGCACATATTCCAGCTGTAGC	0.582000													17	23					0	0	0.008871	0	0
SUGT1P3	283507	broad.mit.edu	37	13	41495622	41495622	+	RNA	SNP	C	C	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr13:41495622C>A	ENST00000304932.4	-	0	201					NR_003365.2																						CTAACGCCGCCTGGGGGTCCT	0.557000											OREG0022377	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	13					3.86212e-05	4.26562e-05	0.008291	1	0
ANGPTL4	51129	broad.mit.edu	37	19	8431173	8431173	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr19:8431173G>A	ENST00000301455.2	+	3	688	c.517G>A	c.(517-519)Gac>Aac	p.D173N	ANGPTL4_ENST00000541807.1_Missense_Mutation_p.D6N|ANGPTL4_ENST00000393962.2_Missense_Mutation_p.D173N	NM_139314.1	NP_647475.1	Q9BY76	ANGL4_HUMAN	angiopoietin-like 4	173					angiogenesis|cell differentiation|cellular lipid metabolic process|negative regulation of apoptosis|negative regulation of lipoprotein lipase activity|positive regulation of angiogenesis|response to hypoxia|signal transduction|triglyceride homeostasis	extracellular space|proteinaceous extracellular matrix	enzyme inhibitor activity|receptor binding			large_intestine(1)|lung(1)|ovary(2)|skin(2)	6						CCAGCCAGTTGACCCGGCTCA	0.637000													18	32					0	0	0.008871	0	0
ABHD3	171586	broad.mit.edu	37	18	19231568	19231568	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr18:19231568C>A	ENST00000578270.1	-	8	1569	c.629G>T	c.(628-630)gGa>gTa	p.G210V	ABHD3_ENST00000289119.2_Missense_Mutation_p.G405V|ABHD3_ENST00000580981.1_Missense_Mutation_p.G352V			Q8WU67	ABHD3_HUMAN	abhydrolase domain containing 3	405						integral to membrane	carboxylesterase activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|prostate(2)	10						GAGTTCATGTCCATGCTCAAC	0.423000													58	46					7.41606e-26	8.68794e-26	0.014410	1	0
PIAS3	10401	broad.mit.edu	37	1	145580411	145580411	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr1:145580411C>G	ENST00000369299.3	+	6	984	c.866C>G	c.(865-867)tCt>tGt	p.S289C	PIAS3_ENST00000393045.2_Intron|PIAS3_ENST00000369298.1_Intron			Q9Y6X2	PIAS3_HUMAN	protein inhibitor of activated STAT, 3	0					positive regulation of protein sumoylation|protein sumoylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	enzyme binding|nucleic acid binding|protein C-terminus binding|zinc ion binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)	28	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GCATTTTCCTCTTTATGAGTC	0.522000													7	26					0	0	0.001984	0	0
SYCP2	10388	broad.mit.edu	37	20	58450426	58450426	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr20:58450426C>G	ENST00000357552.3	-	34	3474	c.3249G>C	c.(3247-3249)tgG>tgC	p.W1083C	SYCP2_ENST00000371001.2_Missense_Mutation_p.W1083C			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	1083					cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding			NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			ATGAGTTTTTCCATTGTTTTG	0.368000													12	15					0	0	0.010729	0	0
CDHR1	92211	broad.mit.edu	37	10	85973933	85973933	+	Silent	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr10:85973933C>T	ENST00000372117.3	+	17	2239	c.2136C>T	c.(2134-2136)gtC>gtT	p.V712V	CDHR1_ENST00000440770.2_Silent_p.V416V|CDHR1_ENST00000332904.3_Intron	NM_033100.2	NP_149091.1	Q96JP9	CDHR1_HUMAN	cadherin-related family member 1	712					homophilic cell adhesion		calcium ion binding|receptor activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						TGGCCACCGTCGTGGCCATCA	0.637000													22	55					0	0	0.012319	0	0
TMCC3	57458	broad.mit.edu	37	12	94965478	94965478	+	Silent	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr12:94965478C>T	ENST00000261226.4	-	4	1298	c.1167G>A	c.(1165-1167)aaG>aaA	p.K389K	TMCC3_ENST00000551457.1_Silent_p.K358K	NM_020698.2	NP_065749	Q9ULS5	TMCC3_HUMAN	transmembrane and coiled-coil domain family 3	389						integral to membrane				NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	29						GGAGCTCCAGCTTAGAAATGC	0.547000													22	58					0	0	0.016522	0	0
ITPR1	3708	broad.mit.edu	37	3	4709127	4709127	+	Missense_Mutation	SNP	A	A	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr3:4709127A>T	ENST00000354582.6	+	18	2130	c.1780A>T	c.(1780-1782)Act>Tct	p.T594S	ITPR1_ENST00000423119.2_Missense_Mutation_p.T594S|ITPR1_ENST00000357086.4_Missense_Mutation_p.T594S|ITPR1_ENST00000456211.2_Missense_Mutation_p.T579S|ITPR1_ENST00000443694.2_Missense_Mutation_p.T579S|ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000302640.8_Missense_Mutation_p.T579S			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	594					activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		GGCTGAAGACACTATCACTGC	0.458000													43	15					0	0	0.007835	0	0
NXPE3	91775	broad.mit.edu	37	3	101540311	101540311	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr3:101540311A>G	ENST00000422132.1	+	5	1390	c.1193A>G	c.(1192-1194)aAg>aGg	p.K398R	NXPE3_ENST00000477909.1_Missense_Mutation_p.K398R|NXPE3_ENST00000491511.2_Missense_Mutation_p.K398R|NXPE3_ENST00000273347.5_Missense_Mutation_p.K398R					neurexophilin and PC-esterase domain family, member 3																		GTGGACCAGAAGCACAACATC	0.468000													12	24					0	0	0.010729	0	0
GPI	2821	broad.mit.edu	37	19	34884959	34884959	+	Silent	SNP	G	G	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr19:34884959G>T	ENST00000415930.3	+	12	1253	c.1083G>T	c.(1081-1083)gcG>gcT	p.A361A	GPI_ENST00000356487.5_Silent_p.A350A|GPI_ENST00000586425.1_Silent_p.A350A	NM_001184722.1	NP_001171651.1	P06744	G6PI_HUMAN	glucose-6-phosphate isomerase	350					angiogenesis|gluconeogenesis|glycolysis|hemostasis|humoral immune response	cytosol|extracellular space|nucleus|plasma membrane	cytokine activity|glucose-6-phosphate isomerase activity|growth factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	25	Esophageal squamous(110;0.162)					GCTTTGCTGCGTACTTCCAGC	0.582000													13	30					0.00185496	0.0020039	0.016723	1	0
MUC16	94025	broad.mit.edu	37	19	9076683	9076683	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr19:9076683G>T	ENST00000397910.4	-	3	10966	c.10763C>A	c.(10762-10764)gCa>gAa	p.A3588E		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3589	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGAATCTGATGCAGCTGTGGA	0.493000													6	76					0.00116845	0.00126534	0.001168	1	0
AKAP6	9472	broad.mit.edu	37	14	33291834	33291834	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr14:33291834C>A	ENST00000280979.4	+	13	4985	c.4815C>A	c.(4813-4815)agC>agA	p.S1605R	AKAP6_ENST00000557272.1_Intron	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	1605	Ser-rich.				protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		CCTATAAAAGCAATGAAGATC	0.428000													9	37					0.000274275	0.000299209	0.004482	1	0
TTN	7273	broad.mit.edu	37	2	179475984	179475984	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr2:179475984C>T	ENST00000589042.1	-	270	51096	c.50872G>A	c.(50872-50874)Gac>Aac	p.D16958N	TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.D7893N|TTN_ENST00000359218.5_Missense_Mutation_p.D8018N|TTN_ENST00000342992.6_Missense_Mutation_p.D14390N|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.D15317N|TTN_ENST00000342175.6_Missense_Mutation_p.D8085N|TTN-AS1_ENST00000456053.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	15317	Fibronectin type-III 23.						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)			GTCTCCAGGTCAATTGTTGGC	0.353000													14	14					0	0	0.020292	0	0
NLRC3	197358	broad.mit.edu	37	16	3613416	3613416	+	RNA	SNP	C	C	G			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr16:3613416C>G	ENST00000301749.7	-	0	1927				NLRC3_ENST00000448023.2_RNA|NLRC3_ENST00000419350.2_RNA|NLRC3_ENST00000359128.5_RNA|NLRC3_ENST00000603507.1_RNA|NLRC3_ENST00000324659.8_RNA	NM_178844.2	NP_849172.2	Q7RTR2	NLRC3_HUMAN	NLR family, CARD domain containing 3						I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|T cell activation	cytoplasm	ATP binding			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						TCCAGCCTCCCGTCCTCTGCC	0.667000													3	0					0	0	0.004672	0	0
ARNT2	9915	broad.mit.edu	37	15	80845057	80845057	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr15:80845057A>G	ENST00000533983.1	+	11	1337	c.998A>G	c.(997-999)gAt>gGt	p.D333G	ARNT2_ENST00000527771.1_Missense_Mutation_p.D333G|ARNT2_ENST00000303329.4_Missense_Mutation_p.D344G			Q9HBZ2	ARNT2_HUMAN	aryl-hydrocarbon receptor nuclear translocator 2	344	PAS 2.				central nervous system development|in utero embryonic development|response to hypoxia		aryl hydrocarbon receptor binding|DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|pancreas(2)|prostate(2)|skin(1)	35			BRCA - Breast invasive adenocarcinoma(143;0.134)			CATAACTCCGATGGAATCATC	0.473000													46	28					0	0	0.013114	0	0
CSAD	51380	broad.mit.edu	37	12	53565213	53565213	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr12:53565213G>C	ENST00000267085.4	-	8	778	c.545C>G	c.(544-546)tCc>tGc	p.S182C	CSAD_ENST00000379846.1_Intron|CSAD_ENST00000379843.3_Intron|CSAD_ENST00000542115.1_3'UTR|CSAD_ENST00000444623.1_Missense_Mutation_p.S155C|CSAD_ENST00000453446.2_Missense_Mutation_p.S155C	NM_001244706.1|NM_015989.4	NP_001231635.1|NP_057073.4	Q9Y600	CSAD_HUMAN	cysteine sulfinic acid decarboxylase	155					carboxylic acid metabolic process		pyridoxal phosphate binding|sulfinoalanine decarboxylase activity			kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(4)	14					L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114)	ATACATGTTGGAGATGGAGCC	0.597000													11	29					0	0	0.008291	0	0
MTMR6	9107	broad.mit.edu	37	13	25827950	25827950	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr13:25827950T>C	ENST00000381801.5	-	11	2059	c.1298A>G	c.(1297-1299)cAg>cGg	p.Q433R	MTMR6_ENST00000540661.1_Missense_Mutation_p.Q433R	NM_004685.3	NP_004676.3	Q9Y217	MTMR6_HUMAN	myotubularin related protein 6	433	Myotubularin phosphatase.					cytoplasm|nuclear envelope	calcium-activated potassium channel activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity			breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(5)|stomach(3)	36		Lung SC(185;0.0225)|Breast(139;0.0351)		all cancers(112;0.00927)|Epithelial(112;0.0474)|OV - Ovarian serous cystadenocarcinoma(117;0.164)		GTTTCCAAACTGGCATGAATG	0.408000													24	48					0	0	0.016522	0	0
GALE	2582	broad.mit.edu	37	1	24124627	24124627	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr1:24124627C>G	ENST00000374497.3	-	5	422	c.331G>C	c.(331-333)Ggg>Cgg	p.G111R		NM_000403.3|NM_001008216.1|NM_001127621.1	NP_000394.2|NP_001008217.1|NP_001121093.1	Q14376	GALE_HUMAN	UDP-galactose-4-epimerase	111					galactose catabolic process	cytosol	coenzyme binding|protein homodimerization activity|UDP-glucose 4-epimerase activity			endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(2)	8		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;1.79e-24)|Colorectal(126;4.8e-08)|COAD - Colon adenocarcinoma(152;2.83e-06)|GBM - Glioblastoma multiforme(114;4.22e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|KIRC - Kidney renal clear cell carcinoma(1967;0.00314)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0827)|LUSC - Lung squamous cell carcinoma(448;0.184)		TGGATGGTCCCGGTCAGGTTA	0.592000													10	109					0	0	0.010729	0	0
MBD6	114785	broad.mit.edu	37	12	57918589	57918589	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr12:57918589C>T	ENST00000355673.3	+	4	556	c.200C>T	c.(199-201)cCa>cTa	p.P67L	MBD6_ENST00000431731.2_Missense_Mutation_p.P67L	NM_052897.3	NP_443129.3	Q96DN6	MBD6_HUMAN	methyl-CpG binding domain protein 6	67	MBD.					chromosome|nucleus	chromatin binding|DNA binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						CTGGAGTGTCCACTTAATGTC	0.542000													21	53					0	0	0.016522	0	0
FAM73B	84895	broad.mit.edu	37	9	131802905	131802905	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr9:131802905T>C	ENST00000277475.5	+	2	218	c.32T>C	c.(31-33)aTg>aCg	p.M11T	FAM73B_ENST00000474534.1_3'UTR|FAM73B_ENST00000406926.2_Missense_Mutation_p.M11T|FAM73B_ENST00000358369.4_Missense_Mutation_p.M11T			Q7L4E1	FA73B_HUMAN	family with sequence similarity 73, member B	11						integral to membrane				breast(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(1)	13						GGCACGTCTATGATCCAGGCC	0.597000													40	47					0	0	0.008740	0	0
B4GALNT3	283358	broad.mit.edu	37	12	645436	645436	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr12:645436A>G	ENST00000266383.5	+	3	339	c.326A>G	c.(325-327)aAc>aGc	p.N109S		NM_173593.3	NP_775864.3	Q6L9W6	B4GN3_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 3	109						Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)			TTGAAGTGGAACAAGCCTGTC	0.448000													14	84					0	0	0.003163	0	0
FGF13	2258	broad.mit.edu	37	X	137717743	137717743	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chrX:137717743A>G	ENST00000315930.6	-	4	1137	c.476T>C	c.(475-477)aTa>aCa	p.I159T	FGF13_ENST00000541469.1_Missense_Mutation_p.I113T|FGF13_ENST00000305414.4_Missense_Mutation_p.I106T|FGF13_ENST00000441825.2_Missense_Mutation_p.I140T|FGF13_ENST00000370603.3_Missense_Mutation_p.I169T	NM_004114.3	NP_004105.1	Q92913	FGF13_HUMAN	fibroblast growth factor 13	159					cell-cell signaling|MAPKKK cascade|nervous system development	cytoplasm|nucleus	growth factor activity|protein kinase activator activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)	24	Acute lymphoblastic leukemia(192;0.000127)					CTGACGGTATATCATTGATGA	0.398000													53	6					0	0	0.014410	0	0
TRAPPC10	7109	broad.mit.edu	37	21	45518410	45518410	+	Missense_Mutation	SNP	A	A	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr21:45518410A>T	ENST00000291574.4	+	21	3516	c.3341A>T	c.(3340-3342)tAt>tTt	p.Y1114F		NM_003274.4	NP_003265.3	P48553	TPC10_HUMAN	trafficking protein particle complex 10	1114					vesicle-mediated transport	Golgi apparatus|integral to membrane	binding|sodium ion transmembrane transporter activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4)	41						AAGCTTATGTATGAAGGTAGG	0.512000													38	56					0	0	0.005524	0	0
CALHM2	51063	broad.mit.edu	37	10	105209283	105209283	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr10:105209283G>A	ENST00000393235.1	-	3	1613	c.416C>T	c.(415-417)tCc>tTc	p.S139F	CALHM2_ENST00000260743.5_Missense_Mutation_p.S139F|CALHM2_ENST00000369788.3_Missense_Mutation_p.S139F			Q9HA72	CAHM2_HUMAN	calcium homeostasis modulator 2	139						integral to membrane				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)|skin(1)	11						CGTGAGTGAGGAAGGGTCCAC	0.597000													23	49					0	0	0.016522	0	0
PRL	5617	broad.mit.edu	37	6	22297250	22297250	+	Translation_Start_Site	SNP	G	G	C			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr6:22297250G>C	ENST00000306482.1	-	0	480				RP3-404K8.2_ENST00000561912.1_RNA	NM_000948.5|NM_001163558.2	NP_000939.1|NP_001157030.1	P01236	PRL_HUMAN	prolactin						cell proliferation|cell surface receptor linked signaling pathway|female pregnancy|lactation|positive regulation of JAK-STAT cascade|regulation of multicellular organism growth	cytosol|extracellular region	hormone activity|prolactin receptor binding			NS(1)|endometrium(2)|large_intestine(6)|lung(6)|prostate(1)	16	Ovarian(93;0.163)					CACCAGAGAAGATCTGGAAGT	0.408000													16	29					0	0	0.004007	0	0
FCGR3A	2214	broad.mit.edu	37	1	161512834	161512834	+	Missense_Mutation	SNP	A	A	G	rs1042208	by1000genomes	TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr1:161512834A>G	ENST00000367969.3	-	5	1024	c.841T>C	c.(841-843)Ttt>Ctt	p.F281L	FCGR3A_ENST00000540048.1_Missense_Mutation_p.F245L|RP11-25K21.6_ENST00000537821.2_RNA|FCGR3A_ENST00000443193.1_Missense_Mutation_p.F280L|FCGR3A_ENST00000436743.1_Missense_Mutation_p.F245L	NM_000569.6	NP_000560.5	P08637	FCG3A_HUMAN	Fc fragment of IgG, low affinity IIIa, receptor (CD16a)	245					immune response|regulation of immune response	extracellular region|integral to membrane|plasma membrane	IgG binding|receptor activity	p.F281L(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	CTCCATTTAAATTTATGGTCC	0.443000													4	205					0	0	0.010729	0	0
REG1B	5968	broad.mit.edu	37	2	79312628	79312628	+	Silent	SNP	A	A	C			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr2:79312628A>C	ENST00000305089.3	-	5	503	c.423T>G	c.(421-423)acT>acG	p.T141T		NM_006507.3	NP_006498.1	P48304	REG1B_HUMAN	regenerating islet-derived 1 beta	141	C-type lectin.				cell proliferation	extracellular region	sugar binding			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(40)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	51						CTGAGCATGAAGTCAGGCTTG	0.547000													37	81					0	0	0.021022	0	0
HERC2	8924	broad.mit.edu	37	15	28460863	28460863	+	Silent	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr15:28460863C>T	ENST00000261609.7	-	39	6222	c.6114G>A	c.(6112-6114)caG>caA	p.Q2038Q		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	2038					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CGCCGCATACCTGCGGCGTGA	0.627000													23	24					0	0	0.016522	0	0
GRM8	2918	broad.mit.edu	37	7	126086316	126086316	+	Silent	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr7:126086316C>T	ENST00000339582.2	-	10	3349	c.2541G>A	c.(2539-2541)caG>caA	p.Q847Q	GRM8_ENST00000444921.2_Silent_p.Q847Q|GRM8_ENST00000358373.3_Silent_p.Q847Q			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	847					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	TTTGAACATTCTGTTCTGGAT	0.423000										HNSCC(24;0.065)			20	37					0	0	0.010504	0	0
TRIM43	129868	broad.mit.edu	37	2	96259801	96259801	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr2:96259801G>C	ENST00000272395.2	+	2	166	c.30G>C	c.(28-30)caG>caC	p.Q10H		NM_001164464.1|NM_138800.1	NP_001157936.1|NP_620155.1	Q96BQ3	TRI43_HUMAN	tripartite motif containing 43	10						intracellular	zinc ion binding	p.Q10H(2)		breast(1)|large_intestine(3)|lung(7)|ovary(1)	12						ATGCCTTCCAGAAGGAACTCA	0.483000													108	99					0	0	0.014410	0	0
SEMA3D	223117	broad.mit.edu	37	7	84751131	84751131	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr7:84751131C>T	ENST00000284136.6	-	1	120	c.77G>A	c.(76-78)aGc>aAc	p.S26N	SEMA3D_ENST00000444867.1_Missense_Mutation_p.S26N	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D	26					cell differentiation|nervous system development	extracellular region|membrane	receptor activity			NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						CATGGTCATGCTTAGCATCAT	0.333000													12	24					0	0	0.006122	0	0
RIF1	55183	broad.mit.edu	37	2	152317679	152317679	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr2:152317679G>T	ENST00000243326.5	+	26	3586	c.3103G>T	c.(3103-3105)Gta>Tta	p.V1035L	RIF1_ENST00000430328.2_Missense_Mutation_p.V1035L|RIF1_ENST00000444746.2_Missense_Mutation_p.V1035L|RIF1_ENST00000453091.2_Missense_Mutation_p.V1035L|RIF1_ENST00000428287.2_Missense_Mutation_p.V1035L			Q5UIP0	RIF1_HUMAN	RAP1 interacting factor homolog (yeast)						cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		GTCTTTAAAAGTAAAGGGTGA	0.318000													14	47					6.31663e-08	7.08228e-08	0.003163	1	0
SCFD2	152579	broad.mit.edu	37	4	54231440	54231440	+	Silent	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr4:54231440G>A	ENST00000401642.3	-	1	802	c.669C>T	c.(667-669)ctC>ctT	p.L223L	SCFD2_ENST00000388940.4_Silent_p.L223L	NM_152540.3	NP_689753.2	Q8WU76	SCFD2_HUMAN	sec1 family domain containing 2	223					protein transport|vesicle docking involved in exocytosis					breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	30			GBM - Glioblastoma multiforme(3;1.07e-26)|LUSC - Lung squamous cell carcinoma(32;0.0134)			ACAGAGAACTGAGGCCTGACA	0.547000													9	31					0	0	0.004482	0	0
PRCC	5546	broad.mit.edu	37	1	156756616	156756616	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr1:156756616A>G	ENST00000271526.4	+	3	1005	c.733A>G	c.(733-735)Atc>Gtc	p.I245V	PRCC_ENST00000353233.3_Missense_Mutation_p.I245V|PRCC_ENST00000491853.1_3'UTR	NM_005973.4	NP_005964.3	Q92733	PRCC_HUMAN	papillary renal cell carcinoma (translocation-associated)	245					cell cycle|mitotic cell cycle checkpoint	nucleus	protein binding		PRCC/TFE3(25)	breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(5)|upper_aerodigestive_tract(1)	15	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GCCCTCTGCTATCAAGGCTGC	0.552000			T	TFE3	papillary renal								9	23					0	0	0.010729	0	0
MED27	9442	broad.mit.edu	37	9	134955168	134955168	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr9:134955168G>A	ENST00000292035.5	-	1	127	c.64C>T	c.(64-66)Cag>Tag	p.Q22*	MED27_ENST00000357028.2_Nonsense_Mutation_p.Q22*|MED27_ENST00000474263.1_Nonsense_Mutation_p.Q22*	NM_004269.3	NP_004260.2	Q6P2C8	MED27_HUMAN	mediator complex subunit 27	22					regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	cytoplasm|nucleolus|transcription factor complex	protein binding|transcription coactivator activity			breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(5)|skin(1)|urinary_tract(1)	18		Myeloproliferative disorder(178;0.206)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000193)		CGCAGCGCCTGGATGGCACTA	0.607000													17	12					0	0	0.004007	0	0
ANKRD36B	57730	broad.mit.edu	37	2	98206235	98206235	+	RNA	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr2:98206235G>A	ENST00000443455.1	-	0	92							Q8N2N9	AN36B_HUMAN	ankyrin repeat domain 36B																		CTCGCCTTCGGGGATCGCCGC	0.622000													6	17					0	0	0.001168	0	0
ACIN1	22985	broad.mit.edu	37	14	23559767	23559767	+	Silent	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr14:23559767G>A	ENST00000262710.1	-	3	781	c.454C>T	c.(454-456)Ctg>Ttg	p.L152L	ACIN1_ENST00000555053.1_Silent_p.L152L|ACIN1_ENST00000457657.1_Silent_p.L152L|ACIN1_ENST00000605057.1_Silent_p.L94L	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	152	Glu-rich.				apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding			breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		TCACGTTCCAGACGCTGCCTA	0.438000													7	47					0	0	0.001984	0	0
RCC2	55920	broad.mit.edu	37	1	17738662	17738662	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr1:17738662C>T	ENST00000375436.4	-	11	1529	c.1342G>A	c.(1342-1344)Gag>Aag	p.E448K	RCC2_ENST00000375433.3_Missense_Mutation_p.E448K	NM_018715.3	NP_061185.1	Q9P258	RCC2_HUMAN	regulator of chromosome condensation 2	448					cell division|mitotic prometaphase	chromosome, centromeric region|cytosol|microtubule|nucleolus|spindle				breast(2)|endometrium(1)|kidney(3)|large_intestine(7)|lung(4)	17		Colorectal(325;0.000147)|Breast(348;0.00122)|Renal(390;0.00145)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00492)|BRCA - Breast invasive adenocarcinoma(304;7.69e-06)|COAD - Colon adenocarcinoma(227;1.19e-05)|Kidney(64;0.000189)|KIRC - Kidney renal clear cell carcinoma(64;0.00273)|STAD - Stomach adenocarcinoma(196;0.0135)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.19)		ATGGTGCTCTCATCGGCGGCC	0.622000													39	40					0	0	0.009718	0	0
ADD1	118	broad.mit.edu	37	4	2927796	2927796	+	Silent	SNP	G	G	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr4:2927796G>T	ENST00000355842.3	+	16	2774	c.1911G>T	c.(1909-1911)gcG>gcT	p.A637A	ADD1_ENST00000398129.1_Silent_p.A606A|ADD1_ENST00000503455.2_Silent_p.A637A|ADD1_ENST00000513328.2_Silent_p.A606A|ADD1_ENST00000264758.7_Silent_p.A637A|ADD1_ENST00000446856.1_Silent_p.A606A|ADD1_ENST00000398123.2_Silent_p.A637A|ADD1_ENST00000398125.1_Silent_p.A637A			P35611	ADDA_HUMAN	adducin 1 (alpha)	606					actin filament bundle assembly|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|positive regulation of protein binding	cytosol|F-actin capping protein complex|nucleus|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding|transcription factor binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		ACCAGCCTGCGGTCCCCCACC	0.622000													10	45					6.40141e-05	7.05267e-05	0.010729	1	0
CCDC141	285025	broad.mit.edu	37	2	179742771	179742771	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr2:179742771C>T	ENST00000420890.2	-	12	1936	c.1819G>A	c.(1819-1821)Gag>Aag	p.E607K	CCDC141_ENST00000295723.5_Missense_Mutation_p.E32K|CCDC141_ENST00000409284.1_Missense_Mutation_p.E607K	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	32							protein binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			CACTGCTTCTCAGCCGAGTCA	0.378000													26	35					0	0	0.018920	0	0
MUS81	80198	broad.mit.edu	37	11	65628568	65628568	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr11:65628568C>T	ENST00000308110.4	+	2	609	c.260C>T	c.(259-261)tCg>tTg	p.S87L	MUS81_ENST00000533035.1_Missense_Mutation_p.S12L|CFL1_ENST00000534769.1_Intron	NM_025128.4	NP_079404.3	Q96NY9	MUS81_HUMAN	MUS81 structure-specific endonuclease subunit	87					DNA recombination|DNA repair	nucleolus	3'-flap endonuclease activity|DNA binding|metal ion binding|protein binding			endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	13				READ - Rectum adenocarcinoma(159;0.166)		CACCGAACATCGGGCGGTGAG	0.662000								Homologous recombination					35	38					0	0	0.005524	0	0
PPP1R12A	4659	broad.mit.edu	37	12	80328602	80328602	+	Missense_Mutation	SNP	T	T	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr12:80328602T>A	ENST00000450142.2	-	1	376	c.110A>T	c.(109-111)aAg>aTg	p.K37M	PPP1R12A_ENST00000261207.5_Missense_Mutation_p.K37M|PPP1R12A_ENST00000550107.1_Missense_Mutation_p.K37M|PPP1R12A_ENST00000437004.2_Missense_Mutation_p.K37M	NM_002480.2	NP_002471.1	O14974	MYPT1_HUMAN	protein phosphatase 1, regulatory subunit 12A	37						contractile fiber	protein binding|signal transducer activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|liver(1)|lung(4)|ovary(2)|skin(1)	29						ATCGTCGAACTTCACCTTGGT	0.637000													5	3					0	0	0.001168	0	0
FAM198B	51313	broad.mit.edu	37	4	159092463	159092463	+	Missense_Mutation	SNP	C	C	T	rs148186776		TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr4:159092463C>T	ENST00000296530.8	-	2	686	c.65G>A	c.(64-66)cGg>cAg	p.R22Q	FAM198B_ENST00000585682.1_Missense_Mutation_p.R22Q|RP11-597D13.9_ENST00000503611.1_RNA|RP11-597D13.9_ENST00000509463.1_RNA|FAM198B_ENST00000393807.5_Missense_Mutation_p.R22Q|FAM198B_ENST00000589306.1_Intron|FAM198B_ENST00000592057.1_Missense_Mutation_p.R22Q	NM_016613.6	NP_057697.2	Q6UWH4	F198B_HUMAN	family with sequence similarity 198, member B	22						Golgi membrane|integral to membrane		p.R22P(3)|p.R22L(2)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(14)|skin(2)|urinary_tract(1)	26						CTTACGCACCCGCGGGACGCA	0.587000													12	39					0	0	0.003163	0	0
GUF1	60558	broad.mit.edu	37	4	44693709	44693709	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr4:44693709G>A	ENST00000281543.5	+	13	1700	c.1506G>A	c.(1504-1506)atG>atA	p.M502I	GUF1_ENST00000506793.1_3'UTR	NM_021927.2	NP_068746.2	Q8N442	GUF1_HUMAN	GUF1 GTPase homolog (S. cerevisiae)	502					translation	mitochondrial inner membrane	GTP binding|GTPase activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	19						AGAAGAATATGATATTTATTG	0.313000													26	43					0	0	0.021523	0	0
CHAD	1101	broad.mit.edu	37	17	48545626	48545626	+	Silent	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr17:48545626C>T	ENST00000508540.1	-	1	701	c.549G>A	c.(547-549)ttG>ttA	p.L183L	ACSF2_ENST00000300441.4_Intron|ACSF2_ENST00000504392.1_Intron|ACSF2_ENST00000427954.2_Intron|CHAD_ENST00000258969.4_Silent_p.L183L|ACSF2_ENST00000541920.1_Intron|ACSF2_ENST00000502667.1_Intron	NM_001267.2	NP_001258.2	O15335	CHAD_HUMAN	chondroadherin	183					regulation of cell growth	proteinaceous extracellular matrix	extracellular matrix structural constituent			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(2)|ovary(2)	15	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			GCAGGGAGCTCAACGCGTTTT	0.622000													12	114					0	0	0.016723	0	0
AR	367	broad.mit.edu	37	X	66765161	66765161	+	Missense_Mutation	SNP	A	A	T	rs71905623		TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chrX:66765161A>T	ENST00000374690.3	+	1	697	c.173A>T	c.(172-174)cAg>cTg	p.Q58L	AR_ENST00000396044.3_Missense_Mutation_p.Q58L|AR_ENST00000504326.1_Missense_Mutation_p.Q58L|AR_ENST00000513847.1_3'UTR	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN	androgen receptor	58	Gln-rich.|Modulating.|Poly-Gln.				cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport	cytoplasm|nuclear chromatin|nucleoplasm	androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding	p.Q58L(2)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624)	CTGCTGCTgcagcagcagcag	0.667000									Androgen Insensitivity Syndrome				6	16					0	0	0.003080	0	0
ABHD16A	7920	broad.mit.edu	37	6	31668761	31668761	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr6:31668761C>G	ENST00000395952.3	-	4	463	c.301G>C	c.(301-303)Ggg>Cgg	p.G101R	ABHD16A_ENST00000440843.2_Missense_Mutation_p.G68R|XXbac-BPG32J3.20_ENST00000461287.1_3'UTR|ABHD16A_ENST00000538874.1_Silent_p.L2L|ABHD16A_ENST00000375842.4_5'UTR	NM_021160.2	NP_066983.1	O95870	ABHGA_HUMAN	abhydrolase domain containing 16A	101						integral to membrane	hydrolase activity|protein binding			endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	10						AGCAATGTCCCAGCATAGTGA	0.507000													11	60					0	0	0.013537	0	0
EIF4G1	1981	broad.mit.edu	37	3	184040229	184040229	+	Silent	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr3:184040229C>T	ENST00000342981.4	+	10	2013	c.1599C>T	c.(1597-1599)gcC>gcT	p.A533A	EIF4G1_ENST00000435046.2_Silent_p.A337A|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000414031.1_Silent_p.A493A|EIF4G1_ENST00000424196.1_Silent_p.A540A|EIF4G1_ENST00000427845.1_Silent_p.A446A|EIF4G1_ENST00000411531.1_Silent_p.A493A|EIF4G1_ENST00000352767.3_Silent_p.A540A|EIF4G1_ENST00000441154.1_Silent_p.A369A|EIF4G1_ENST00000434061.2_Silent_p.A337A|EIF4G1_ENST00000392537.2_Silent_p.A446A|EIF4G1_ENST00000382330.3_Silent_p.A540A|EIF4G1_ENST00000350481.5_Silent_p.A369A|EIF4G1_ENST00000319274.6_Silent_p.A533A|EIF4G1_ENST00000346169.2_Silent_p.A533A	NM_182917.4	NP_886553	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	533					insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TTCTGGATGCCTTCAAGGAGG	0.438000													8	21					0	0	0.006214	0	0
ZDHHC7	55625	broad.mit.edu	37	16	85011581	85011581	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr16:85011581G>C	ENST00000313732.4	-	6	920	c.568C>G	c.(568-570)Ctg>Gtg	p.L190V	ZDHHC7_ENST00000569488.1_5'UTR|ZDHHC7_ENST00000564466.1_Missense_Mutation_p.L227V	NM_017740.2	NP_060210.2	Q9NXF8	ZDHC7_HUMAN	zinc finger, DHHC-type containing 7	190						integral to membrane	acyltransferase activity|protein binding|zinc ion binding			large_intestine(6)|lung(4)	10						CAAAGGATCAGAGCATGGACT	0.428000													45	41					0	0	0.014410	0	0
TP53AIP1	63970	broad.mit.edu	37	11	128805599	128805599	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr11:128805599G>C	ENST00000531399.1	-	4	471	c.262C>G	c.(262-264)Cta>Gta	p.L88V	TP53AIP1_ENST00000530777.1_Intron|TP53AIP1_ENST00000458238.2_Intron|TP53AIP1_ENST00000602346.1_3'UTR	NM_022112.2	NP_071395.2	Q9HCN2	TPIP1_HUMAN	tumor protein p53 regulated apoptosis inducing protein 1	88					apoptosis	mitochondrion				large_intestine(1)|lung(1)|skin(1)	3						GAGAGACCTAGACCAAGGCCT	0.463000													3	5					0	0	0.004672	0	0
KRT2	3849	broad.mit.edu	37	12	53040646	53040646	+	Silent	SNP	C	C	G			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr12:53040646C>G	ENST00000309680.3	-	7	1368	c.1347G>C	c.(1345-1347)ctG>ctC	p.L449L		NM_000423.2	NP_000414.2	P35908	K22E_HUMAN	keratin 2	449	Coil 2.|Rod.				keratinization|keratinocyte activation|keratinocyte migration|keratinocyte proliferation	Golgi apparatus|keratin filament	protein binding|structural constituent of cytoskeleton			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32				BRCA - Breast invasive adenocarcinoma(357;0.19)		TGGCCTGCTGCAGGGCCTCCT	0.587000													10	78					0	0	0.008291	0	0
HSPG2	3339	broad.mit.edu	37	1	22165877	22165877	+	Silent	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr1:22165877G>A	ENST00000374695.3	-	73	9955	c.9876C>T	c.(9874-9876)atC>atT	p.I3292I		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	3292	Ig-like C2-type 18.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	CCACGTGCAGGATGATGGTGG	0.597000													32	24					0	0	0.015359	0	0
ZNF513	130557	broad.mit.edu	37	2	27603386	27603386	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr2:27603386C>T	ENST00000323703.6	-	1	206	c.8G>A	c.(7-9)cGa>cAa	p.R3Q		NM_144631.5	NP_653232.3	Q8N8E2	ZN513_HUMAN	zinc finger protein 513	3					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)					TTGCTTCCTTCGGGGCATCGT	0.711000													7	8					0	0	0.006214	0	0
COL6A3	1293	broad.mit.edu	37	2	238283323	238283323	+	Silent	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr2:238283323G>A	ENST00000295550.4	-	8	3863	c.3411C>T	c.(3409-3411)atC>atT	p.I1137I	COL6A3_ENST00000346358.4_Silent_p.I937I|COL6A3_ENST00000392003.2_Silent_p.I730I|COL6A3_ENST00000347401.3_Silent_p.I936I|COL6A3_ENST00000353578.4_Silent_p.I931I|COL6A3_ENST00000472056.1_Silent_p.I530I|COL6A3_ENST00000409809.1_Silent_p.I931I|COL6A3_ENST00000392004.3_Silent_p.I931I	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1137	Nonhelical region.|VWFA 6.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CCGTGAGGACGATCAGCAGCT	0.637000													26	43					0	0	0.009535	0	0
CD163	9332	broad.mit.edu	37	12	7635263	7635263	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr12:7635263G>A	ENST00000359156.4	-	14	3425	c.3223C>T	c.(3223-3225)Cga>Tga	p.R1075*	CD163_ENST00000541972.1_Nonsense_Mutation_p.R1063*|CD163_ENST00000432237.2_Nonsense_Mutation_p.R1075*|CD163_ENST00000396620.3_Nonsense_Mutation_p.R1108*	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	1075					acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						CTCTGTCTTCGCTTTTTAGTC	0.433000													61	72					0	0	0.014410	0	0
UGT1A9	54600	broad.mit.edu	37	2	234580786	234580786	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr2:234580786C>A	ENST00000354728.4	+	1	288	c.206C>A	c.(205-207)tCa>tAa	p.S69*	UGT1A1_ENST00000609637.1_Nonsense_Mutation_p.S69*|UGT1A10_ENST00000344644.5_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A1_ENST00000373450.4_Intron																breast(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	37		Breast(86;0.000766)|all_lung(227;0.00269)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0331)|Lung NSC(271;0.0459)|Lung SC(224;0.128)		Epithelial(121;1.26e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000436)|Lung(119;0.00347)|LUSC - Lung squamous cell carcinoma(224;0.00757)		CTGGGAAGATCACTGAATTGC	0.498000													14	91					1.36491e-13	1.57408e-13	0.016723	1	0
MEOX2	4223	broad.mit.edu	37	7	15725691	15725691	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr7:15725691C>T	ENST00000262041.5	-	1	746	c.337G>A	c.(337-339)Gac>Aac	p.D113N		NM_005924.4	NP_005915.2	P50222	MEOX2_HUMAN	mesenchyme homeobox 2	113					blood circulation|multicellular organismal development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24				UCEC - Uterine corpus endometrioid carcinoma (126;0.0822)		CCTCCAGAGTCGGGCTGGAGG	0.692000													7	6					0	0	0.001984	0	0
TMCO4	255104	broad.mit.edu	37	1	20107204	20107204	+	Silent	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr1:20107204C>T	ENST00000294543.6	-	4	289	c.48G>A	c.(46-48)ctG>ctA	p.L16L	TMCO4_ENST00000375122.2_Silent_p.L16L|TMCO4_ENST00000375127.1_Silent_p.L16L	NM_181719.4	NP_859070.3	Q5TGY1	TMCO4_HUMAN	transmembrane and coiled-coil domains 4	16						integral to membrane				biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00708)|COAD - Colon adenocarcinoma(152;2.28e-05)|BRCA - Breast invasive adenocarcinoma(304;5.8e-05)|Kidney(64;0.000367)|GBM - Glioblastoma multiforme(114;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00459)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0862)|Lung(427;0.223)		GCTCAGCTACCAGAGGCTGCT	0.627000													19	18					0	0	0.010504	0	0
ATP8B3	148229	broad.mit.edu	37	19	1796870	1796870	+	Silent	SNP	G	G	C			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr19:1796870G>C	ENST00000539485.1	-	16	1826	c.1593C>G	c.(1591-1593)ccC>ccG	p.P531P	ATP8B3_ENST00000310127.6_Silent_p.P531P|ATP8B3_ENST00000525591.1_Silent_p.P484P			O60423	AT8B3_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 3	531					ATP biosynthetic process		ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TCCAGAGGTAGGGGTTCTCCT	0.716000													3	22					0	0	0.004672	0	0
RASAL2	9462	broad.mit.edu	37	1	178269155	178269155	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr1:178269155A>G	ENST00000448150.3	+	3	1123	c.305A>G	c.(304-306)cAg>cGg	p.Q102R	RASAL2_ENST00000465723.1_3'UTR|RASAL2_ENST00000367649.3_Missense_Mutation_p.Q120R	NM_170692.2	NP_733793.2	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2	0	PH.				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity			biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						CAGGAGCAGCAGACAGATTCC	0.478000											OREG0014010	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	23	29					0	0	0.016522	0	0
FUZ	80199	broad.mit.edu	37	19	50311871	50311871	+	Silent	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr19:50311871C>T	ENST00000313777.4	-	9	1081	c.918G>A	c.(916-918)ctG>ctA	p.L306L	FUZ_ENST00000533418.1_Silent_p.L256L|FUZ_ENST00000445575.2_Silent_p.L306L|FUZ_ENST00000528094.1_Silent_p.L270L	NM_025129.4	NP_079405.2	Q9BT04	FUZZY_HUMAN	fuzzy planar cell polarity protein	306	Leu-rich.				cilium assembly|embryonic body morphogenesis|embryonic skeletal system morphogenesis|establishment of planar polarity|hair follicle development|neural tube closure|protein transport|regulation of smoothened signaling pathway	cytoplasm|cytoskeleton				endometrium(1)|lung(3)	4		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00793)|GBM - Glioblastoma multiforme(134;0.0116)		GGCAGCGCTTCAGTTCCAGGT	0.657000													13	13					0	0	0.020292	0	0
FAM122C	159091	broad.mit.edu	37	X	133979245	133979245	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chrX:133979245T>C	ENST00000370784.4	+	4	663	c.257T>C	c.(256-258)aTg>aCg	p.M86T	FAM122C_ENST00000445123.1_Start_Codon_SNP_p.M1T|FAM122C_ENST00000370785.3_Missense_Mutation_p.M86T	NM_001170779.1	NP_001164250.1	Q6P4D5	F222C_HUMAN	family with sequence similarity 122C	86										endometrium(2)|kidney(1)|lung(2)	5	Acute lymphoblastic leukemia(192;0.000127)					GAAGAAGCCATGGATTTAATA	0.279000													109	27					0	0	0.014410	0	0
SPRED2	200734	broad.mit.edu	37	2	65543912	65543912	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr2:65543912G>A	ENST00000356388.4	-	5	733	c.544C>T	c.(544-546)Cac>Tac	p.H182Y	SPRED2_ENST00000443619.2_Missense_Mutation_p.H179Y|SPRED2_ENST00000474228.1_5'UTR	NM_181784.2	NP_861449.2	Q7Z698	SPRE2_HUMAN	sprouty-related, EVH1 domain containing 2	182					inactivation of MAPK activity|multicellular organismal development	transport vesicle membrane	stem cell factor receptor binding			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(7)|ovary(2)|upper_aerodigestive_tract(3)	34						TCGTGGAGGTGGCCCAGGGTA	0.537000													9	25					0	0	0.004482	0	0
JOSD1	9929	broad.mit.edu	37	22	39095872	39095872	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr22:39095872G>T	ENST00000216039.5	-	1	800	c.121C>A	c.(121-123)Ctc>Atc	p.L41I		NM_014876.5	NP_055691.1	Q15040	JOS1_HUMAN	Josephin domain containing 1	41	Josephin.						peptidase activity			large_intestine(1)|lung(1)|ovary(2)|pancreas(1)	5	Melanoma(58;0.04)					ACGTTATTGAGGGCGTGGAGG	0.537000													5	195					0.000602214	0.000655351	0.014758	1	0
PRDM9	56979	broad.mit.edu	37	5	23526685	23526685	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr5:23526685A>C	ENST00000296682.3	+	11	1670	c.1488A>C	c.(1486-1488)gaA>gaC	p.E496D		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	496					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						TAATGGAAGAAGAGTCCAGAA	0.448000										HNSCC(3;0.000094)			6	35					0	0	0.001168	0	0
PHACTR4	65979	broad.mit.edu	37	1	28800272	28800272	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr1:28800272T>C	ENST00000373839.3	+	7	1291	c.1030T>C	c.(1030-1032)Tcc>Ccc	p.S344P	PHACTR4_ENST00000373836.3_Missense_Mutation_p.S354P|PHACTR4_ENST00000493669.1_3'UTR	NM_001048183.1	NP_001041648.1	Q8IZ21	PHAR4_HUMAN	phosphatase and actin regulator 4	344	Pro-rich.						actin binding|protein phosphatase inhibitor activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649)		TCGCTCTCCGTCCCCCCCACT	0.512000													4	301					0	0	0.014758	0	0
ABCC12	94160	broad.mit.edu	37	16	48130786	48130786	+	Silent	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr16:48130786G>A	ENST00000311303.3	-	22	3411	c.3066C>T	c.(3064-3066)ctC>ctT	p.L1022L	ABCC12_ENST00000416054.1_3'UTR|ABCC12_ENST00000448542.1_3'UTR	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	1022	ABC transmembrane type-1 2.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				CAAACCACCTGAGAGCACAGT	0.463000													24	40					0	0	0.005443	0	0
SH3RF1	57630	broad.mit.edu	37	4	170028181	170028181	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr4:170028181G>T	ENST00000284637.9	-	11	2656	c.2315C>A	c.(2314-2316)tCc>tAc	p.S772Y		NM_020870.3	NP_065921.2	Q7Z6J0	SH3R1_HUMAN	SH3 domain containing ring finger 1	772						Golgi apparatus|lamellipodium|perinuclear region of cytoplasm	ligase activity|zinc ion binding			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31		Prostate(90;0.00267)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)		CACAGGGCAGGAGCCTGCCCT	0.662000													7	21					2.17888e-05	2.42462e-05	0.006214	1	0
PITPNM1	9600	broad.mit.edu	37	11	67271650	67271650	+	Translation_Start_Site	SNP	A	A	G			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr11:67271650A>G	ENST00000356404.3	-	2	227	c.2T>C	c.(1-3)aTg>aCg	p.M1T	PITPNM1_ENST00000534749.1_Start_Codon_SNP_p.M1T|PITPNM1_ENST00000436757.2_Start_Codon_SNP_p.M1T	NM_001130848.1|NM_004910.2	NP_001124320.1|NP_004901.2	O00562	PITM1_HUMAN	phosphatidylinositol transfer protein, membrane-associated 1	1					brain development|lipid metabolic process|phototransduction|protein transport	cleavage furrow|endoplasmic reticulum membrane|Golgi cisterna membrane|lipid particle|membrane fraction|midbody	metal ion binding|phosphatidylinositol transporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3)	18						CTTGATGAGCATCCTGAAGGC	0.706000													10	25					0	0	0.006214	0	0
CYP24A1	1591	broad.mit.edu	37	20	52774035	52774035	+	Silent	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr20:52774035C>T	ENST00000216862.3	-	10	1719	c.1326G>A	c.(1324-1326)caG>caA	p.Q442Q	CYP24A1_ENST00000395955.3_Intron|CYP24A1_ENST00000395954.3_Silent_p.Q300Q	NM_000782.4	NP_000773.2	Q07973	CP24A_HUMAN	cytochrome P450, family 24, subfamily A, polypeptide 1	442					hormone biosynthetic process|osteoblast differentiation|vitamin D catabolic process|vitamin D receptor signaling pathway|xenobiotic metabolic process	mitochondrial inner membrane	1-alpha,25-dihydroxyvitamin D3 24-hydroxylase activity|electron carrier activity|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen			breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Lung NSC(4;1.08e-05)|all_lung(4;2.7e-05)		STAD - Stomach adenocarcinoma(23;0.206)		Calcidiol(DB00146)|Calcitriol(DB00136)|Cholecalciferol(DB00169)|Ergocalciferol(DB00153)|Paricalcitol(DB00910)	TTTCCTTCTCCTGAAGCCAAC	0.428000													10	40					0	0	0.006214	0	0
ABCB6	10058	broad.mit.edu	37	2	220075494	220075494	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr2:220075494T>C	ENST00000265316.3	-	16	2511	c.2195A>G	c.(2194-2196)aAg>aGg	p.K732R	ABCB6_ENST00000439002.2_Missense_Mutation_p.K686R	NM_005689.2	NP_005680.1	Q9NP58	ABCB6_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 6	732	ABC transporter.				cadmium ion transmembrane transport|cellular iron ion homeostasis|detoxification of cadmium ion|porphyrin biosynthetic process	ATP-binding cassette (ABC) transporter complex|Golgi apparatus|integral to mitochondrial outer membrane|plasma membrane|vacuolar membrane	ATP binding|efflux transmembrane transporter activity|heme binding|heme-transporting ATPase activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	34		Renal(207;0.0474)		Epithelial(149;1.22e-06)|all cancers(144;0.000201)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GACGCGCTGCTTCTCCCCGCC	0.622000													8	28					0	0	0.008291	0	0
MAP3K15	389840	broad.mit.edu	37	X	19389508	19389508	+	Silent	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chrX:19389508C>T	ENST00000338883.4	-	23	3248	c.3249G>A	c.(3247-3249)tcG>tcA	p.S1083S	MAP3K15_ENST00000359173.3_Silent_p.S518S|MAP3K15_ENST00000469203.2_Silent_p.S915S|MAP3K15_ENST00000518578.1_5'UTR	NM_001001671.3	NP_001001671.3	Q6ZN16	M3K15_HUMAN	mitogen-activated protein kinase kinase kinase 15	1083							ATP binding|MAP kinase kinase kinase activity|metal ion binding			NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	Hepatocellular(33;0.183)					GACTGATGGACGAGCTGTCAA	0.522000													43	13					0	0	0.011902	0	0
SLC2A3	6515	broad.mit.edu	37	12	8083956	8083956	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr12:8083956C>A	ENST00000075120.7	-	4	635	c.395G>T	c.(394-396)gGa>gTa	p.G132V		NM_006931.2	NP_008862.1	P11169	GTR3_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 3	132					carbohydrate metabolic process|water-soluble vitamin metabolic process	integral to membrane|plasma membrane	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity	p.G132V(1)		central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(14)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				Kidney(36;0.0866)		TGTGCAGAGTCCGCAGAAGAG	0.537000													27	70					2.12542e-12	2.42592e-12	0.006320	1	0
LRP4	4038	broad.mit.edu	37	11	46920516	46920516	+	Silent	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr11:46920516G>A	ENST00000378623.1	-	6	857	c.615C>T	c.(613-615)ctC>ctT	p.L205L		NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	205	LDL-receptor class A 5.				endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		GGTAGATGTCGAGGATGCAGC	0.642000													20	10					0	0	0.008871	0	0
UBAP2L	9898	broad.mit.edu	37	1	154224128	154224128	+	Splice_Site	SNP	A	A	G			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr1:154224128A>G	ENST00000428931.1	+	14	1830	c.1663A>G	c.(1663-1665)Agt>Ggt	p.S555G	UBAP2L_ENST00000361546.2_Splice_Site_p.S555G|UBAP2L_ENST00000271877.7_Splice_Site_p.S566G|UBAP2L_ENST00000343815.6_Splice_Site_p.S555G	NM_014847.3	NP_055662.3	Q14157	UBP2L_HUMAN	ubiquitin associated protein 2-like	555					binding of sperm to zona pellucida		protein binding	p.S555G(2)|p.S51G(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|prostate(1)|urinary_tract(2)	50	all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			CAGCACGGCCAGGTAGAGGAA	0.493000													31	225					0	0	0.010818	0	0
CSMD2	114784	broad.mit.edu	37	1	34238233	34238233	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr1:34238233C>G	ENST00000373381.4	-	13	1959	c.1783G>C	c.(1783-1785)Gga>Cga	p.G595R	CSMD2_ENST00000338325.1_Missense_Mutation_p.G203R	NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	555	CUB 4.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GCCTTCTGTCCCACCAGCTCA	0.577000													5	101					0	0	0.001168	0	0
PDIA5	10954	broad.mit.edu	37	3	122865069	122865069	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr3:122865069C>T	ENST00000316218.7	+	13	1200	c.1105C>T	c.(1105-1107)Ctc>Ttc	p.L369F	PDIA5_ENST00000467157.1_3'UTR	NM_006810.3	NP_006801.1	Q14554	PDIA5_HUMAN	protein disulfide isomerase family A, member 5	369	Thioredoxin 2.				cell redox homeostasis|glycerol ether metabolic process|protein folding|response to stress	endoplasmic reticulum lumen	electron carrier activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	21				GBM - Glioblastoma multiforme(114;0.0427)		AGTGCCTGTGCTCAGGACAAA	0.483000													12	75					0	0	0.013537	0	0
SLC9A7	84679	broad.mit.edu	37	X	46529104	46529104	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chrX:46529104G>A	ENST00000328306.4	-	5	756	c.731C>T	c.(730-732)tCa>tTa	p.S244L		NM_001257291.1|NM_032591.2	NP_001244220.1|NP_115980.1	Q96T83	SL9A7_HUMAN	solute carrier family 9, subfamily A (NHE7, cation proton antiporter 7), member 7	244					regulation of pH	Golgi membrane|integral to membrane|recycling endosome membrane|trans-Golgi network	potassium:hydrogen antiporter activity|protein homodimerization activity|sodium:hydrogen antiporter activity			breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)|skin(1)	21						AAATTTATCTGAGAGCTGTCC	0.348000													15	5					0	0	0.020292	0	0
SNX19	399979	broad.mit.edu	37	11	130785628	130785628	+	Silent	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr11:130785628G>A	ENST00000265909.4	-	1	776	c.207C>T	c.(205-207)ctC>ctT	p.L69L	SNX19_ENST00000533318.1_Intron|SNX19_ENST00000533214.1_Silent_p.L69L|SNX19_ENST00000530356.1_Intron|SNX19_ENST00000539184.1_Intron|SNX19_ENST00000528555.1_Intron	NM_014758.2	NP_055573	Q92543	SNX19_HUMAN	sorting nexin 19	69					cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding|protein binding	p.L69L(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(8)|ovary(3)|prostate(1)|skin(6)|urinary_tract(1)	35	all_hematologic(175;0.0597)	Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233)		CCACTCCAGCGAGGCTGGAGC	0.602000													9	42					0	0	0.004482	0	0
SYNE2	23224	broad.mit.edu	37	14	64457735	64457735	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr14:64457735A>G	ENST00000358025.3	+	21	2778	c.2548A>G	c.(2548-2550)Atg>Gtg	p.M850V	SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000344113.4_Missense_Mutation_p.M850V|SYNE2_ENST00000554584.1_Missense_Mutation_p.M850V	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	850					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)		CAGGCTGAAGATGGAAGAATC	0.413000													43	8					0	0	0.011902	0	0
VAV1	7409	broad.mit.edu	37	19	6836572	6836572	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr19:6836572G>A	ENST00000304076.2	+	20	2001	c.1907G>A	c.(1906-1908)tGg>tAg	p.W636*	VAV1_ENST00000602142.1_Nonsense_Mutation_p.W636*|VAV1_ENST00000596764.1_Nonsense_Mutation_p.W604*|VAV1_ENST00000539284.1_Nonsense_Mutation_p.W539*|VAV1_ENST00000599806.1_Nonsense_Mutation_p.W581*	NM_001258206.1	NP_001245135.1	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor	636	SH3 1.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						GAACAGAACTGGTGGGAGGTA	0.567000													7	24					0	0	0.003080	0	0
ODF3L1	161753	broad.mit.edu	37	15	76017546	76017546	+	Silent	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr15:76017546G>A	ENST00000332145.2	+	2	439	c.216G>A	c.(214-216)cgG>cgA	p.R72R		NM_175881.3	NP_787077.1	Q8IXM7	OD3L1_HUMAN	outer dense fiber of sperm tails 3-like 1	72										kidney(1)|lung(1)	2						TGCATAGCCGGCACTCAGAGA	0.592000													4	58					0	0	0.014758	0	0
F12	2161	broad.mit.edu	37	5	176830946	176830946	+	Silent	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr5:176830946G>A	ENST00000253496.3	-	10	1212	c.1164C>T	c.(1162-1164)gcC>gcT	p.A388A		NM_000505.3	NP_000496.2	P00748	FA12_HUMAN	coagulation factor XII (Hageman factor)	388	Peptidase S1.				Factor XII activation|fibrinolysis|innate immune response|positive regulation of blood coagulation|positive regulation of fibrinolysis|positive regulation of plasminogen activation|protein autoprocessing|response to misfolded protein|zymogen activation	extracellular space|plasma membrane	serine-type endopeptidase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	12	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGTACAGCGCGGCGATGTAGG	0.716000									Hereditary Angioedema		OREG0017088	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	6					0	0	0.001984	0	0
RNF219	79596	broad.mit.edu	37	13	79190511	79190511	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr13:79190511G>C	ENST00000282003.6	-	6	1443	c.1385C>G	c.(1384-1386)cCa>cGa	p.P462R	RNF219-AS1_ENST00000606429.1_RNA|RNF219-AS1_ENST00000560584.2_RNA	NM_024546.3	NP_078822.3	Q5W0B1	RN219_HUMAN	ring finger protein 219	462	Ser-rich.			P -> T (in Ref. 1; CAB66586).			zinc ion binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|liver(1)|lung(11)|prostate(1)|skin(1)	32		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)		GBM - Glioblastoma multiforme(99;0.0414)		TCCTGTCTTTGGGGAAGAAAA	0.333000													9	17					0	0	0.008291	0	0
SEMA5A	9037	broad.mit.edu	37	5	9063097	9063097	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr5:9063097C>T	ENST00000382496.5	-	18	3085	c.2420G>A	c.(2419-2421)cGg>cAg	p.R807Q		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	807	TSP type-1 5.				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						AACACGCTTCCGGTTCCGAAT	0.592000													8	39					0	0	0.004482	0	0
CDK5RAP2	55755	broad.mit.edu	37	9	123151529	123151529	+	Silent	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr9:123151529G>A	ENST00000349780.4	-	38	5846	c.5667C>T	c.(5665-5667)agC>agT	p.S1889S	CDK5RAP2_ENST00000359309.3_Silent_p.S1848S|CDK5RAP2_ENST00000360822.3_Silent_p.S1857S|CDK5RAP2_ENST00000360190.4_Silent_p.S1810S|CDK5RAP2_ENST00000480467.1_5'UTR	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	1889	Interaction with PCNT and AKAP9.				brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding			breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						AGCCTGGTCTGCTGGGACTGC	0.473000													9	9					0	0	0.004482	0	0
DCAF6	55827	broad.mit.edu	37	1	167906233	167906233	+	Silent	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr1:167906233G>A	ENST00000367840.3	+	1	178	c.84G>A	c.(82-84)cgG>cgA	p.R28R	DCAF6_ENST00000432587.2_Silent_p.R28R|DCAF6_ENST00000312263.6_Silent_p.R28R|DCAF6_ENST00000470919.1_Intron|MPC2_ENST00000271373.4_5'UTR|DCAF6_ENST00000367843.3_Silent_p.R28R	NM_001198956.1	NP_001185885.1	Q58WW2	DCAF6_HUMAN	DDB1 and CUL4 associated factor 6	28					positive regulation of transcription from RNA polymerase II promoter	CUL4 RING ubiquitin ligase complex|nucleus	ligand-dependent nuclear receptor transcription coactivator activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	36						CCCGGCTGCGGAGTCGATACC	0.711000													11	17					0	0	0.020292	0	0
FASTKD3	79072	broad.mit.edu	37	5	7861273	7861273	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr5:7861273G>C	ENST00000264669.5	-	6	2009	c.1873C>G	c.(1873-1875)Caa>Gaa	p.Q625E	MTRR_ENST00000502509.1_Intron|FASTKD3_ENST00000513658.1_5'UTR	NM_024091.3	NP_076996.2	Q14CZ7	FAKD3_HUMAN	FAST kinase domains 3	625	RAP.				apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						TGAACAACTTGATAACCGAGT	0.348000													21	48					0	0	0.010504	0	0
GPLD1	2822	broad.mit.edu	37	6	24433445	24433445	+	Silent	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr6:24433445G>A	ENST00000230036.1	-	24	2516	c.2406C>T	c.(2404-2406)agC>agT	p.S802S		NM_001503.3	NP_001494.2	P80108	PHLD_HUMAN	glycosylphosphatidylinositol specific phospholipase D1	802						extracellular region	glycosylphosphatidylinositol phospholipase D activity			breast(3)|endometrium(5)|kidney(1)|large_intestine(11)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	32						TGATGAGGGAGCTCCCAAACC	0.453000													17	163					0	0	0.004990	0	0
CNIH3	149111	broad.mit.edu	37	1	224922305	224922305	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr1:224922305G>A	ENST00000272133.3	+	5	1234	c.352G>A	c.(352-354)Gac>Aac	p.D118N		NM_152495.1	NP_689708.1	Q8TBE1	CNIH3_HUMAN	cornichon family AMPA receptor auxiliary protein 3	118					intracellular signal transduction|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic shaft|postsynaptic membrane				large_intestine(5)|lung(4)	9	Breast(184;0.218)			GBM - Glioblastoma multiforme(131;0.073)		ACTAGCCTACGACCCACCGGT	0.517000													29	41					0	0	0.008361	0	0
WDFY1	57590	broad.mit.edu	37	2	224782693	224782693	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr2:224782693G>A	ENST00000233055.4	-	2	274	c.172C>T	c.(172-174)Caa>Taa	p.Q58*		NM_020830.3	NP_065881.1	Q8IWB7	WDFY1_HUMAN	WD repeat and FYVE domain containing 1	58						cytosol|early endosome|nucleus	1-phosphatidylinositol binding|zinc ion binding			NS(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)	18		all_lung(227;0.00682)|Lung NSC(271;0.00859)|Renal(207;0.0112)|all_hematologic(139;0.189)		Epithelial(121;5.34e-10)|all cancers(144;1.67e-07)|Lung(261;0.00807)|LUSC - Lung squamous cell carcinoma(224;0.00843)		GGCCAGTATTGACCACTGTCT	0.358000													12	28					0	0	0.006122	0	0
KIAA1324L	222223	broad.mit.edu	37	7	86554951	86554951	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr7:86554951C>A	ENST00000450689.2	-	10	1477	c.1292G>T	c.(1291-1293)gGa>gTa	p.G431V	KIAA1324L_ENST00000297222.6_Missense_Mutation_p.G191V|KIAA1324L_ENST00000444627.1_Missense_Mutation_p.G431V|KIAA1324L_ENST00000416314.1_Missense_Mutation_p.G264V	NM_001142749.2	NP_001136221.1	A8MWY0	K132L_HUMAN	KIAA1324-like	431						integral to membrane				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44	Esophageal squamous(14;0.0058)					AGGCTCCGTTCCTGCTGGACA	0.418000													16	48					2.32078e-09	2.62864e-09	0.003163	1	0
SHROOM2	357	broad.mit.edu	37	X	9900215	9900215	+	Splice_Site	SNP	A	A	G			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chrX:9900215A>G	ENST00000380913.3	+	6	2982	c.2892A>G	c.(2890-2892)agA>agG	p.R964R	SHROOM2_ENST00000493668.1_3'UTR|SHROOM2_ENST00000418909.2_5'UTR	NM_001649.2	NP_001640.1	Q13796	SHRM2_HUMAN	shroom family member 2	964					apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization	apical plasma membrane|cell-cell adherens junction|microtubule|tight junction	actin filament binding|beta-catenin binding|ligand-gated sodium channel activity			breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57		Hepatocellular(5;0.000888)				CTTCCTCTAGACAAGCAGATG	0.502000													27	16					0	0	0.004656	0	0
SLC29A1	2030	broad.mit.edu	37	6	44201158	44201158	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr6:44201158G>C	ENST00000393841.1	+	14	1755	c.1264G>C	c.(1264-1266)Gtg>Ctg	p.V422L	SLC29A1_ENST00000371713.1_Missense_Mutation_p.V422L|SLC29A1_ENST00000427851.2_Missense_Mutation_p.V422L|SLC29A1_ENST00000371708.1_Missense_Mutation_p.V422L|SLC29A1_ENST00000393844.1_Missense_Mutation_p.V422L|SLC29A1_ENST00000371731.1_Missense_Mutation_p.V422L|SLC29A1_ENST00000371724.1_Missense_Mutation_p.V422L|SLC29A1_ENST00000371755.3_Missense_Mutation_p.V422L|SLC29A1_ENST00000371740.5_Missense_Mutation_p.V422L|SLC29A1_ENST00000313248.7_Missense_Mutation_p.V501L	NM_001078177.1	NP_001071645.1	Q99808	S29A1_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 1	422					nucleobase, nucleoside and nucleotide metabolic process	apical plasma membrane|basolateral plasma membrane|integral to plasma membrane|membrane fraction	nucleoside transmembrane transporter activity|protein binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(2)	17	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		Troglitazone(DB00197)	GCTTAGGAAAGTGAAGCCAGC	0.597000													38	125					0	0	0.010771	0	0
MYO9B	4650	broad.mit.edu	37	19	17321180	17321180	+	Silent	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr19:17321180G>A	ENST00000595618.1	+	37	5939	c.5787G>A	c.(5785-5787)gaG>gaA	p.E1929E	MYO9B_ENST00000397274.2_Silent_p.E1929E|MYO9B_ENST00000594824.1_Silent_p.E1929E	NM_001130065.1|NM_004145.3	NP_001123537.1|NP_004136.2	Q13459	MYO9B_HUMAN	myosin IXB	1929	Tail.				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						CTCCCTATGAGGGGGTCCTGG	0.627000													8	6					0	0	0.003080	0	0
ARHGEF1	9138	broad.mit.edu	37	19	42410644	42410644	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr19:42410644G>A	ENST00000599846.1	+	28	2820	c.2695G>A	c.(2695-2697)Gaa>Aaa	p.E899K	ARHGEF1_ENST00000378152.4_Intron|ARHGEF1_ENST00000337665.4_Missense_Mutation_p.E858K|ARHGEF1_ENST00000347545.4_Missense_Mutation_p.E810K|ARHGEF1_ENST00000354532.3_Missense_Mutation_p.E843K			Q92888	ARHG1_HUMAN	Rho guanine nucleotide exchange factor (GEF) 1	843					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)		TCCGGCGGAGGAAGACAATGG	0.677000													22	38					0	0	0.018920	0	0
APBA2	321	broad.mit.edu	37	15	29393827	29393827	+	Missense_Mutation	SNP	G	G	A	rs142481200		TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr15:29393827G>A	ENST00000558402.1	+	11	1963	c.1364G>A	c.(1363-1365)cGt>cAt	p.R455H	APBA2_ENST00000561069.1_Missense_Mutation_p.R455H|APBA2_ENST00000558330.1_Missense_Mutation_p.R443H|APBA2_ENST00000558259.1_Missense_Mutation_p.R455H|APBA2_ENST00000411764.1_Missense_Mutation_p.R443H			Q99767	APBA2_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 2	455	PID.				nervous system development|protein transport		protein binding	p.R455H(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		CACGCCTTGCGTACCATCTCC	0.587000													8	15					0	0	0.004482	0	0
SCYL3	57147	broad.mit.edu	37	1	169845137	169845137	+	Silent	SNP	A	A	C			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr1:169845137A>C	ENST00000367771.6	-	4	661	c.447T>G	c.(445-447)gtT>gtG	p.V149V	SCYL3_ENST00000367770.1_Silent_p.V149V|SCYL3_ENST00000367772.4_Silent_p.V149V|SCYL3_ENST00000470238.1_5'UTR	NM_020423.6	NP_065156.5	Q8IZE3	PACE1_HUMAN	SCY1-like 3 (S. cerevisiae)		Protein kinase.				cell migration	Golgi apparatus|lamellipodium	ATP binding|protein binding|protein kinase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TGGCCTGAGAAACTTTACAAA	0.463000													3	41					0	0	0.009096	0	0
DOPEY2	9980	broad.mit.edu	37	21	37603050	37603050	+	Silent	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr21:37603050C>T	ENST00000399151.3	+	14	2053	c.1968C>T	c.(1966-1968)tcC>tcT	p.S656S		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	656					endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						AAAGCAAGTCCGAGGAGCCTG	0.542000													41	46					0	0	0.006999	0	0
EPHA2	1969	broad.mit.edu	37	1	16475491	16475491	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr1:16475491C>A	ENST00000358432.5	-	3	359	c.205G>T	c.(205-207)Gtg>Ttg	p.V69L	EPHA2_ENST00000461614.1_5'UTR	NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	69					activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)	ACGTTGCACACGGAGTACATG	0.537000													44	42					2.55665e-31	3.00305e-31	0.014410	1	0
ZNF594	84622	broad.mit.edu	37	17	5086957	5086957	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr17:5086957C>G	ENST00000399604.4	-	1	735	c.595G>C	c.(595-597)Gtg>Ctg	p.V199L	ZNF594_ENST00000575779.1_Missense_Mutation_p.V199L			Q96JF6	ZN594_HUMAN	zinc finger protein 594	199			V -> G (in dbSNP:rs3853648).		regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						TTATGTCTCACCAGATTGGAG	0.393000													38	87					0	0	0.006230	0	0
TICAM2	353376	broad.mit.edu	37	5	114916656	114916656	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr5:114916656G>C	ENST00000408996.4	-	4	1191	c.805C>G	c.(805-807)Cta>Gta	p.L269V	TICAM2_ENST00000427199.2_Missense_Mutation_p.L100V|TMED7-TICAM2_ENST00000333314.3_3'UTR|TMED7-TICAM2_ENST00000282382.4_Missense_Mutation_p.L269V	NM_001164468.2|NM_001164469.2	NP_001157940.1|NP_001157941.1			toll-like receptor adaptor molecule 2											cervix(1)|kidney(1)|lung(2)|soft_tissue(1)	5		all_cancers(142;0.0223)|all_epithelial(76;0.000869)|Prostate(80;0.0115)|Ovarian(225;0.156)		OV - Ovarian serous cystadenocarcinoma(64;4.38e-07)|Epithelial(69;1.62e-06)|all cancers(49;6.93e-05)		TCATCTTGTAGCAGATTCTGG	0.418000													20	128					0	0	0.014323	0	0
CALD1	800	broad.mit.edu	37	7	134643018	134643018	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr7:134643018G>A	ENST00000361388.2	+	11	1817	c.1351G>A	c.(1351-1353)Gag>Aag	p.E451K	CALD1_ENST00000466704.1_3'UTR|CALD1_ENST00000424922.1_Missense_Mutation_p.E419K|CALD1_ENST00000393118.2_Missense_Mutation_p.E445K|CALD1_ENST00000422748.1_Missense_Mutation_p.E450K|CALD1_ENST00000361675.2_Missense_Mutation_p.E680K|CALD1_ENST00000495522.1_Missense_Mutation_p.E444K|CALD1_ENST00000543443.1_Missense_Mutation_p.E430K|CALD1_ENST00000361901.2_Missense_Mutation_p.E425K|CALD1_ENST00000417172.1_Missense_Mutation_p.E425K	NM_033138.3|NM_033157.3	NP_149129.2|NP_149347.2	Q05682	CALD1_HUMAN	caldesmon 1	680					cellular component movement|muscle contraction	cytosol|focal adhesion|myofibril	actin binding|calmodulin binding|myosin binding|tropomyosin binding			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(15)|lung(10)	43						CAGCAGACTGGAGCAGTATAC	0.388000													59	49					0	0	0.014410	0	0
PTGER4	5734	broad.mit.edu	37	5	40681893	40681893	+	Silent	SNP	C	C	G			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr5:40681893C>G	ENST00000302472.3	+	2	1822	c.798C>G	c.(796-798)gcC>gcG	p.A266A		NM_000958.2	NP_000949.1	P35408	PE2R4_HUMAN	prostaglandin E receptor 4 (subtype EP4)	266					G-protein signaling, coupled to cAMP nucleotide second messenger|immune response	integral to membrane|plasma membrane	prostaglandin E receptor activity			breast(1)|endometrium(3)|liver(1)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						TCGCGGGCGCCGAGATCCAGA	0.706000													6	125					0	0	0.001168	0	0
GRAMD1A	57655	broad.mit.edu	37	19	35505212	35505212	+	Silent	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr19:35505212C>T	ENST00000599564.1	+	11	1322	c.1251C>T	c.(1249-1251)acC>acT	p.T417T	GRAMD1A_ENST00000411896.2_Silent_p.T323T|GRAMD1A_ENST00000504615.2_Silent_p.T96T|GRAMD1A_ENST00000317991.5_Silent_p.T330T			Q96CP6	GRM1A_HUMAN	GRAM domain containing 1A	330						integral to membrane				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	19	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			GGCCCACCACCCTGGGCCCCT	0.637000													32	63					0	0	0.006999	0	0
DNAJC30	84277	broad.mit.edu	37	7	73097379	73097379	+	Silent	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr7:73097379G>A	ENST00000395176.2	-	1	404	c.375C>T	c.(373-375)gtC>gtT	p.V125V	WBSCR22_ENST00000464615.1_3'UTR	NM_032317.2	NP_115693.2	Q96LL9	DJC30_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 30	125					protein folding		heat shock protein binding|unfolded protein binding			kidney(1)|large_intestine(2)|lung(1)	4						TGGAGGGCCGGACGCCAGGTC	0.741000													9	14					0	0	0.004482	0	0
TP73	7161	broad.mit.edu	37	1	3624302	3624302	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr1:3624302C>T	ENST00000378295.4	+	4	531	c.376C>T	c.(376-378)Cac>Tac	p.H126Y	TP73_ENST00000603362.1_Missense_Mutation_p.H126Y|TP73_ENST00000378288.4_Missense_Mutation_p.H77Y|TP73_ENST00000357733.3_Missense_Mutation_p.H126Y|TP73_ENST00000378280.1_Missense_Mutation_p.H77Y|TP73_ENST00000604074.1_Missense_Mutation_p.H126Y|TP73_ENST00000378285.1_Missense_Mutation_p.H77Y|TP73_ENST00000354437.4_Missense_Mutation_p.H126Y|TP73_ENST00000604479.1_Missense_Mutation_p.H126Y|TP73_ENST00000346387.4_Missense_Mutation_p.H126Y|TP73_ENST00000378290.4_Missense_Mutation_p.H55Y	NM_001204185.1|NM_005427.3	NP_001191114.1|NP_005418.1	O15350	P73_HUMAN	tumor protein p73	126					cellular response to UV|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|mismatch repair|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of JUN kinase activity|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|protein tetramerization|response to gamma radiation|response to X-ray	chromatin|cytosol|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|metal ion binding|p53 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|transcription repressor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|lung(8)|ovary(1)|prostate(1)	20	all_cancers(77;0.0395)|Ovarian(185;0.0634)|Lung NSC(156;0.188)|all_lung(157;0.198)	all_epithelial(116;7.42e-17)|all_lung(118;1.86e-06)|Lung NSC(185;0.000163)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.109)|Ovarian(437;0.127)		Epithelial(90;5.57e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.87e-22)|GBM - Glioblastoma multiforme(42;5.72e-16)|Colorectal(212;2.22e-05)|COAD - Colon adenocarcinoma(227;8.48e-05)|Kidney(185;0.000539)|BRCA - Breast invasive adenocarcinoma(365;0.000868)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.00751)|Lung(427;0.226)		CGGACCCCACCACTTTGAGGT	0.667000													16	59					0	0	0.004990	0	0
ANO10	55129	broad.mit.edu	37	3	43408465	43408465	+	Splice_Site	SNP	T	T	G			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr3:43408465T>G	ENST00000292246.3	-	13	2086	c.1916A>C	c.(1915-1917)cAa>cCa	p.Q639P	ANO10_ENST00000451430.2_Splice_Site_p.Q528P|ANO10_ENST00000396091.3_Splice_Site_p.Q573P|ANO10_ENST00000350459.4_Splice_Site_p.Q449P|ANO10_ENST00000414522.2_3'UTR	NM_018075.3	NP_060545.3	Q9NW15	ANO10_HUMAN	anoctamin 10	639					cell death	chloride channel complex	chloride channel activity			NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(3)|skin(3)	29						GAGCTTCATTTGCTGTTAAGA	0.577000													4	13					0	0	0.014758	0	0
DISP2	85455	broad.mit.edu	37	15	40660107	40660107	+	Silent	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr15:40660107C>T	ENST00000267889.3	+	8	1881	c.1794C>T	c.(1792-1794)ctC>ctT	p.L598L		NM_033510.1	NP_277045.1	A7MBM2	DISP2_HUMAN	dispatched homolog 2 (Drosophila)	598	SSD.				smoothened signaling pathway	integral to membrane				breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)	30		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;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247)		TCTCCGGCCTCACCACGAGCG	0.706000													6	4					0	0	0.001168	0	0
SOX5	6660	broad.mit.edu	37	12	23999076	23999076	+	Missense_Mutation	SNP	T	T	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr12:23999076T>A	ENST00000546136.1	-	2	285	c.283A>T	c.(283-285)Acc>Tcc	p.T95S	SOX5_ENST00000545921.1_Missense_Mutation_p.T98S|SOX5_ENST00000541536.1_Missense_Mutation_p.T95S|SOX5_ENST00000451604.2_Missense_Mutation_p.T108S|SOX5_ENST00000541847.1_Missense_Mutation_p.T98S|SOX5_ENST00000381381.2_Missense_Mutation_p.T95S|SOX5_ENST00000441133.2_Missense_Mutation_p.T73S|SOX5_ENST00000309359.1_Missense_Mutation_p.T95S|SOX5_ENST00000537393.1_Missense_Mutation_p.T73S			P35711	SOX5_HUMAN	SRY (sex determining region Y)-box 5	108					transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3)	57						TGAGGTGAGGTAGATGAGTTG	0.468000													22	59					0	0	0.004656	0	0
ANKRD34A	284615	broad.mit.edu	37	1	145474162	145474162	+	Silent	SNP	G	G	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr1:145474162G>T	ENST00000323397.4	+	4	2127	c.834G>T	c.(832-834)ctG>ctT	p.L278L		NM_001039888.2	NP_001034977.1	Q69YU3	AN34A_HUMAN	ankyrin repeat domain 34A	278	Pro-rich.									endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	20	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TCAATGGCCTGACCCTGACCG	0.652000													22	41					7.41877e-09	8.33908e-09	0.012319	1	0
TMEM154	201799	broad.mit.edu	37	4	153573937	153573937	+	Silent	SNP	C	C	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr4:153573937C>A	ENST00000304385.3	-	2	438	c.207G>T	c.(205-207)ccG>ccT	p.P69P	TMEM154_ENST00000504064.1_Silent_p.P69P	NM_152680.2	NP_689893.1	Q6P9G4	TM154_HUMAN	transmembrane protein 154	69						integral to membrane				kidney(2)|large_intestine(1)	3	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.138)				GATTTTCATCCGGAGCAAAGT	0.333000													10	34					7.03913e-09	7.93242e-09	0.013537	1	0
PLXNB1	5364	broad.mit.edu	37	3	48463746	48463746	+	Silent	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr3:48463746C>T	ENST00000358536.4	-	5	1682	c.1413G>A	c.(1411-1413)caG>caA	p.Q471Q	PLXNB1_ENST00000296440.6_Silent_p.Q471Q|PLXNB1_ENST00000358459.4_Silent_p.Q471Q|PLXNB1_ENST00000448774.2_Intron|PLXNB1_ENST00000456774.1_Silent_p.Q471Q	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN	plexin B1	471	Sema.				axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway	extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex	GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		TCACTGTGCTCTGGGTCATGA	0.597000													5	17					0	0	0.001168	0	0
MALT1	10892	broad.mit.edu	37	18	56348424	56348424	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr18:56348424T>C	ENST00000348428.3	+	2	490	c.232T>C	c.(232-234)Tct>Cct	p.S78P	RP11-126O1.4_ENST00000588835.1_RNA|MALT1_ENST00000345724.3_Missense_Mutation_p.S78P	NM_006785.2|NM_173844.1	NP_006776.1|NP_776216.1	Q9UDY8	MALT1_HUMAN	mucosa associated lymphoid tissue lymphoma translocation gene 1	78	Death.				activation of NF-kappaB-inducing kinase activity|anti-apoptosis|nuclear export|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of protein ubiquitination|positive regulation of T cell cytokine production|protein oligomerization|proteolysis|T cell receptor signaling pathway	CBM complex|cytosol|nucleus|perinuclear region of cytoplasm	cysteine-type endopeptidase activity|protein self-association|signal transducer activity|ubiquitin-protein ligase activity			central_nervous_system(1)|large_intestine(7)|lung(1)|ovary(2)|skin(1)	12						GGAGCAGTGTTCTCTTAAGGT	0.463000			T	BIRC3	MALT								36	21					0	0	0.010771	0	0
RREB1	6239	broad.mit.edu	37	6	7211055	7211055	+	Silent	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr6:7211055G>A	ENST00000379938.2	+	7	981	c.444G>A	c.(442-444)gaG>gaA	p.E148E	RREB1_ENST00000349384.6_Silent_p.E148E|RREB1_ENST00000379933.3_Silent_p.E148E|RREB1_ENST00000334984.6_Silent_p.E148E	NM_001003699.3|NM_001003700.1	NP_001003699.1|NP_001003700.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	148					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)				AGATCCATGAGAAGGACCCTA	0.423000													30	70					0	0	0.006320	0	0
OR2L3	391192	broad.mit.edu	37	1	248224484	248224484	+	Silent	SNP	T	T	C			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr1:248224484T>C	ENST00000359959.3	+	1	501	c.501T>C	c.(499-501)taT>taC	p.Y167Y	OR2L13_ENST00000366478.2_Intron	NM_001004687.1	NP_001004687.1	Q8NG85	OR2L3_HUMAN	olfactory receptor, family 2, subfamily L, member 3	167					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1)	41	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			ATATTCCTTATTGCCAATCCA	0.463000													9	61					0	0	0.004990	0	0
YTHDF2	51441	broad.mit.edu	37	1	29095440	29095440	+	Splice_Site	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr1:29095440G>A	ENST00000373812.3	+	5	2078		c.e5-1		YTHDF2_ENST00000541996.1_Splice_Site|YTHDF2_ENST00000478283.1_Splice_Site|YTHDF2_ENST00000542507.1_Splice_Site	NM_016258.2	NP_057342.2	Q9Y5A9	YTHD2_HUMAN	YTH domain family, member 2						humoral immune response					NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Colorectal(325;3.46e-05)|Lung NSC(340;0.000601)|all_lung(284;0.000771)|Breast(348;0.00502)|Renal(390;0.00758)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;5.46e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649)		TACCTCTGTAGGAACGTCAAG	0.328000													5	20					0	0	0.001168	0	0
KDM6A	7403	broad.mit.edu	37	X	44922802	44922802	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chrX:44922802C>T	ENST00000377967.4	+	16	1704	c.1663C>T	c.(1663-1665)Cag>Tag	p.Q555*	KDM6A_ENST00000382899.4_Nonsense_Mutation_p.Q562*|KDM6A_ENST00000543216.1_Nonsense_Mutation_p.Q476*|KDM6A_ENST00000536777.1_Nonsense_Mutation_p.Q510*	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	555					histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.0?(6)|p.0(2)|p.Q555*(2)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						TAGCGTCTCTCAGCCTGGAGT	0.567000			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""								17	6					0	0	0.004007	0	0
ZNF571	51276	broad.mit.edu	37	19	38055989	38055989	+	Silent	SNP	A	A	G			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr19:38055989A>G	ENST00000328550.2	-	4	1440	c.1341T>C	c.(1339-1341)ttT>ttC	p.F447F	ZNF571-AS1_ENST00000590838.1_RNA|ZNF571_ENST00000451802.2_Silent_p.F447F|ZNF571-AS1_ENST00000586013.1_RNA|ZNF571-AS1_ENST00000587121.1_RNA|ZNF571-AS1_ENST00000592392.1_RNA|ZNF571-AS1_ENST00000589750.1_RNA|ZNF571_ENST00000593133.1_Silent_p.F447F|ZNF571-AS1_ENST00000591430.1_RNA|ZNF571-AS1_ENST00000586139.1_RNA|ZNF571_ENST00000590751.1_Intron|ZNF571_ENST00000358744.3_Silent_p.F447F|ZNF540_ENST00000592533.1_Intron|ZNF571-AS1_ENST00000589802.1_RNA|ZNF571-AS1_ENST00000585578.1_RNA			Q7Z3V5	ZN571_HUMAN	zinc finger protein 571	447					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	25			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CCTTACATTCAAAGGGTTTCT	0.388000													6	203					0	0	0.001984	0	0
LCMT2	9836	broad.mit.edu	37	15	43622469	43622469	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr15:43622469C>G	ENST00000305641.5	-	1	334	c.219G>C	c.(217-219)caG>caC	p.Q73H	LCMT2_ENST00000544735.1_Intron|LCMT2_ENST00000567039.1_Intron	NM_014793.4	NP_055608.2	O60294	LCMT2_HUMAN	leucine carboxyl methyltransferase 2	73					tRNA processing		methyltransferase activity|protein binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|liver(1)|lung(9)|skin(1)|urinary_tract(1)	20		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.1e-07)	L-Leucine(DB00149)	GCGCGCCAATCTGCTCCAAAA	0.682000													19	11					0	0	0.008871	0	0
CRYBG3	131544	broad.mit.edu	37	3	97661173	97661173	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr3:97661173G>A	ENST00000182096.4	+	18	2930	c.2866G>A	c.(2866-2868)Gga>Aga	p.G956R	CRYBG3_ENST00000389622.2_Missense_Mutation_p.G163R|CRYBG3_ENST00000485253.1_3'UTR|MINA_ENST00000333396.7_3'UTR	NM_153605.3	NP_705833.3			beta-gamma crystallin domain containing 3											breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(10)|stomach(1)|upper_aerodigestive_tract(2)	32						GGACACACCTGGAGCTAAAGT	0.413000													20	48					0	0	0.008871	0	0
F12	2161	broad.mit.edu	37	5	176831565	176831565	+	Silent	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr5:176831565G>A	ENST00000253496.3	-	8	783	c.735C>T	c.(733-735)gcC>gcT	p.A245A		NM_000505.3	NP_000496.2	P00748	FA12_HUMAN	coagulation factor XII (Hageman factor)	245	Kringle.				Factor XII activation|fibrinolysis|innate immune response|positive regulation of blood coagulation|positive regulation of fibrinolysis|positive regulation of plasminogen activation|protein autoprocessing|response to misfolded protein|zymogen activation	extracellular space|plasma membrane	serine-type endopeptidase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	12	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TCCGGTAGGTGGCCTCCGAGG	0.726000									Hereditary Angioedema		OREG0017088	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	4					0	0	0.006214	0	0
AXIN2	8313	broad.mit.edu	37	17	63533517	63533517	+	Missense_Mutation	SNP	C	C	T	rs145717795	byFrequency	TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr17:63533517C>T	ENST00000307078.5	-	6	1950	c.1637G>A	c.(1636-1638)gGc>gAc	p.G546D	AXIN2_ENST00000375702.5_Missense_Mutation_p.G546D	NM_004655.3	NP_004646.3	Q9Y2T1	AXIN2_HUMAN	axin 2	546					cellular protein localization|cellular response to organic cyclic compound|dorsal/ventral axis specification|intramembranous ossification|maintenance of DNA repeat elements|mRNA stabilization|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of cell proliferation|negative regulation of osteoblast differentiation|odontogenesis|positive regulation of cell death|positive regulation of epithelial to mesenchymal transition|positive regulation of protein phosphorylation|regulation of centromeric sister chromatid cohesion|regulation of mismatch repair|Wnt receptor signaling pathway involved in somitogenesis	Axin-APC-beta-catenin-GSK3B complex|cell cortex|centrosome|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|nucleus|plasma membrane|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	34						ATACTCGCTGCCCCCAGGGCA	0.612000									Oligodontia, Ectodermal Dysplasia and Colorectal Polyp syndrome				10	110					0	0	0.006214	0	0
SFN	2810	broad.mit.edu	37	1	27189796	27189796	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr1:27189796G>C	ENST00000339276.4	+	1	164	c.93G>C	c.(91-93)gaG>gaC	p.E31D		NM_006142.3	NP_006133.1	P31947	1433S_HUMAN	stratifin	31					DNA damage response, signal transduction resulting in induction of apoptosis|negative regulation of caspase activity|release of cytochrome c from mitochondria	cytoplasm|extracellular space|nucleus	protein domain specific binding|protein kinase C inhibitor activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(2)	9		all_cancers(24;1.23e-26)|all_epithelial(13;1.19e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;0.00017)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.1e-52)|Epithelial(14;2.31e-52)|OV - Ovarian serous cystadenocarcinoma(117;8.22e-30)|Colorectal(126;1.31e-09)|COAD - Colon adenocarcinoma(152;3.45e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000501)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)|GBM - Glioblastoma multiforme(114;0.0767)|Lung(427;0.215)		GCGCCGTGGAGAAGGGCGAGG	0.607000													13	114					0	0	0.013537	0	0
ISL1	3670	broad.mit.edu	37	5	50687238	50687238	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr5:50687238T>C	ENST00000230658.7	+	5	1481	c.896T>C	c.(895-897)tTg>tCg	p.L299S	ISL1_ENST00000511384.1_Missense_Mutation_p.L276S|ISL1_ENST00000505475.2_3'UTR	NM_002202.2	NP_002193.2	P61371	ISL1_HUMAN	ISL LIM homeobox 1	299	Gln-rich.				generation of precursor metabolites and energy|multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(11)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31		Lung NSC(810;0.000845)|Breast(144;0.0411)				GACTTCGCCTTGCAGAGTGAC	0.517000													36	80					0	0	0.009718	0	0
YIF1B	90522	broad.mit.edu	37	19	38800271	38800271	+	Translation_Start_Site	SNP	C	C	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr19:38800271C>A	ENST00000392124.3	-	0	292				YIF1B_ENST00000592694.1_De_novo_Start_InFrame|YIF1B_ENST00000591755.1_Missense_Mutation_p.R21M|YIF1B_ENST00000337679.8_Missense_Mutation_p.R21M|YIF1B_ENST00000591784.1_De_novo_Start_InFrame|YIF1B_ENST00000329420.8_Missense_Mutation_p.R9M|YIF1B_ENST00000592246.1_De_novo_Start_InFrame|YIF1B_ENST00000587361.1_5'UTR|YIF1B_ENST00000339413.6_Missense_Mutation_p.R24M	NM_033557.3	NP_291035.1	Q5BJH7	YIF1B_HUMAN	Yip1 interacting factor homolog B (S. cerevisiae)							integral to membrane				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|prostate(1)	10	all_cancers(60;1.07e-06)		Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			CACAGGGATCCTCCGCTTCGA	0.632000													5	82					0.000157383	0.000172539	0.003080	1	0
PRDM2	7799	broad.mit.edu	37	1	14106203	14106203	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr1:14106203A>G	ENST00000235372.7	+	8	2769	c.1913A>G	c.(1912-1914)aAg>aGg	p.K638R	PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000311066.5_Missense_Mutation_p.K638R|PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000413440.1_Missense_Mutation_p.K437R|PRDM2_ENST00000343137.4_Missense_Mutation_p.K437R	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	638						Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		GAGGCCAAGAAGCGGAGAACT	0.473000													7	29					0	0	0.001984	0	0
ASAP3	55616	broad.mit.edu	37	1	23782407	23782407	+	Silent	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr1:23782407G>A	ENST00000336689.3	-	3	359	c.315C>T	c.(313-315)ttC>ttT	p.F105F	ASAP3_ENST00000437606.2_Silent_p.F105F	NM_017707.3	NP_060177.2	Q8TDY4	ASAP3_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 3	105					regulation of ARF GTPase activity	cytoplasm	ARF GTPase activator activity|zinc ion binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	24						CCTCGCGGGTGAACACGGCCA	0.557000													93	46					0	0	0.014410	0	0
IGKV1D-17	28900	broad.mit.edu	37	2	90121868	90121868	+	RNA	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr2:90121868C>T	ENST00000483379.1	+	0	267																											ATGACCCAGTCTCCATCTGCC	0.443000													122	127					0	0	0.014410	0	0
VCAN	1462	broad.mit.edu	37	5	82817219	82817219	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr5:82817219C>G	ENST00000265077.3	+	7	3659	c.3094C>G	c.(3094-3096)Cag>Gag	p.Q1032E	VCAN_ENST00000512590.2_Missense_Mutation_p.Q984E|VCAN_ENST00000343200.5_Intron|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000342785.4_Missense_Mutation_p.Q1032E	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	1032	GAG-alpha (glucosaminoglycan attachment domain).				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)		GGGAACAACTCAGGAAGAATT	0.453000													2	16					0	0	0.004672	0	0
FUZ	80199	broad.mit.edu	37	19	50312751	50312751	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr19:50312751C>T	ENST00000313777.4	-	6	737	c.574G>A	c.(574-576)Gag>Aag	p.E192K	FUZ_ENST00000533418.1_Missense_Mutation_p.E142K|FUZ_ENST00000445575.2_Missense_Mutation_p.E192K|AC006942.4_ENST00000600669.1_RNA|FUZ_ENST00000528094.1_Missense_Mutation_p.E156K	NM_025129.4	NP_079405.2	Q9BT04	FUZZY_HUMAN	fuzzy planar cell polarity protein	192					cilium assembly|embryonic body morphogenesis|embryonic skeletal system morphogenesis|establishment of planar polarity|hair follicle development|neural tube closure|protein transport|regulation of smoothened signaling pathway	cytoplasm|cytoskeleton				endometrium(1)|lung(3)	4		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00793)|GBM - Glioblastoma multiforme(134;0.0116)		CACCAACCCTCTGTTGCTGCC	0.721000													4	11					0	0	0.009096	0	0
DPYS	1807	broad.mit.edu	37	8	105405182	105405182	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr8:105405182A>C	ENST00000351513.2	-	8	1405	c.1273T>G	c.(1273-1275)Ttc>Gtc	p.F425V	DPYS_ENST00000521601.1_Intron	NM_001385.2	NP_001376.1	Q14117	DPYS_HUMAN	dihydropyrimidinase	425					protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process	cytosol	dihydropyrimidinase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			AAAATGTTGAAGTTAACAGCC	0.423000													9	56					0	0	0.006214	0	0
TLR10	81793	broad.mit.edu	37	4	38776079	38776079	+	Missense_Mutation	SNP	A	A	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr4:38776079A>T	ENST00000308973.4	-	4	1738	c.1133T>A	c.(1132-1134)aTt>aAt	p.I378N	TLR10_ENST00000506111.1_Missense_Mutation_p.I378N|TLR10_ENST00000508334.1_Missense_Mutation_p.I378N|TLR10_ENST00000361424.2_Missense_Mutation_p.I378N	NM_001017388.2|NM_001195107.1|NM_030956.3	NP_001017388.1|NP_001182036.1|NP_112218.2	Q9BXR5	TLR10_HUMAN	toll-like receptor 10	378					inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane	transmembrane receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(2)	25						GCCATTCAAAATGAGAGTTTT	0.328000													24	37					0	0	0.016522	0	0
CMIP	80790	broad.mit.edu	37	16	81712175	81712175	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr16:81712175G>C	ENST00000537098.3	+	10	1402	c.1330G>C	c.(1330-1332)Gag>Cag	p.E444Q	CMIP_ENST00000566513.1_3'UTR|CMIP_ENST00000398040.4_Missense_Mutation_p.E291Q|CMIP_ENST00000539778.2_Missense_Mutation_p.E350Q	NM_198390.2	NP_938204.2	Q8IY22	CMIP_HUMAN	c-Maf inducing protein	410						cytoplasm|nucleus				endometrium(5)|kidney(1)|lung(7)	13						CATGAGCATCGAGCTGGGCCC	0.711000													8	9					0	0	0.008291	0	0
LOC220729	220729	broad.mit.edu	37	3	197348646	197348646	+	RNA	SNP	T	T	C	rs138265355	by1000genomes	TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr3:197348646T>C	ENST00000418868.1	-	0	613					NR_003266.2																						TGGGCCTGCCTGCCCTTTCCA	0.532000													5	46					0	0	0.001984	0	0
SDHA	6389	broad.mit.edu	37	5	235398	235398	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr5:235398G>C	ENST00000264932.6	+	9	1319	c.1204G>C	c.(1204-1206)Gtc>Ctc	p.V402L	SDHA_ENST00000510361.1_Missense_Mutation_p.V354L|SDHA_ENST00000504309.1_Missense_Mutation_p.V402L	NM_004168.2	NP_004159.2	P31040	DHSA_HUMAN	succinate dehydrogenase complex, subunit A, flavoprotein (Fp)	402					nervous system development|respiratory electron transport chain|succinate metabolic process|transport|tricarboxylic acid cycle	mitochondrial respiratory chain complex II	electron carrier activity|flavin adenine dinucleotide binding|protein binding|succinate dehydrogenase (ubiquinone) activity			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|liver(2)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	40			Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)		Succinic acid(DB00139)	GCCGATCCCTGTCCTCCCCAC	0.617000									Familial Paragangliomas				18	60					0	0	0.012319	0	0
CBX4	8535	broad.mit.edu	37	17	77808682	77808682	+	Silent	SNP	G	G	C			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr17:77808682G>C	ENST00000269397.4	-	5	936	c.759C>G	c.(757-759)gtC>gtG	p.V253V		NM_003655.2	NP_003646.2	O00257	CBX4_HUMAN	chromobox homolog 4	253	Interaction with BMI1.				anti-apoptosis|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|PcG protein complex	enzyme binding|transcription corepressor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			TCTTGTTCTTGACTATCTTCA	0.577000											OREG0024799	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	130	164					0	0	0.014410	0	0
DNAJB6	10049	broad.mit.edu	37	7	157160089	157160089	+	Silent	SNP	A	A	G			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr7:157160089A>G	ENST00000262177.4	+	5	463	c.258A>G	c.(256-258)ccA>ccG	p.P86P	DNAJB6_ENST00000429029.2_Silent_p.P86P|DNAJB6_ENST00000443280.1_Silent_p.P86P|DNAJB6_ENST00000452797.2_Silent_p.P37P	NM_058246.3	NP_490647.1	O75190	DNJB6_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 6	86	Gly/Phe-rich.|Interaction with HSP70.				intermediate filament organization|negative regulation of caspase activity|protein folding|response to unfolded protein	nucleus|perinuclear region of cytoplasm	ATPase activator activity|chaperone binding|heat shock protein binding|unfolded protein binding			central_nervous_system(1)|lung(1)|ovary(2)|stomach(1)	5	all_neural(206;0.181)	all_epithelial(9;0.000606)|all_hematologic(28;0.00287)|Acute lymphoblastic leukemia(9;0.0647)|Ovarian(593;0.196)	OV - Ovarian serous cystadenocarcinoma(82;0.00399)	UCEC - Uterine corpus endometrioid carcinoma (81;0.172)		TTGACAGTCCATTTGAATTTG	0.363000													39	55					0	0	0.009718	0	0
OR2L8	391190	broad.mit.edu	37	1	248112660	248112660	+	Silent	SNP	T	T	C			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr1:248112660T>C	ENST00000357191.3	+	1	501	c.501T>C	c.(499-501)taT>taC	p.Y167Y	OR2L13_ENST00000366478.2_Intron	NM_001001963.1	NP_001001963.1	Q8NGY9	OR2L8_HUMAN	olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene)	167					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3)	42	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			ATATTCCTTATTGCCGATCCA	0.473000													26	92					0	0	0.007291	0	0
PTEN	5728	broad.mit.edu	37	10	89717673	89717673	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr10:89717673G>A	ENST00000371953.3	+	7	2055	c.698G>A	c.(697-699)cGa>cAa	p.R233Q	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	233	C2 tensin-type.				activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.R55fs*1(5)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G165_*404del(1)|p.?(1)|p.R233fs*10(1)|p.R233fs*12(1)|p.R233fs*20(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		GGACCCACACGACGGGAAGAC	0.423000		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			17	44					0	0	0.006122	0	0
MUC6	4588	broad.mit.edu	37	11	1027765	1027765	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr11:1027765G>A	ENST00000421673.2	-	16	1951	c.1901C>T	c.(1900-1902)gCc>gTc	p.A634V		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	634					maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GCCCAGGGCGGCACAGATGTG	0.662000													10	4					0	0	0.008291	0	0
ZHX3	23051	broad.mit.edu	37	20	39832302	39832302	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr20:39832302C>T	ENST00000309060.3	-	4	1670	c.1255G>A	c.(1255-1257)Gag>Aag	p.E419K	ZHX3_ENST00000544979.2_Missense_Mutation_p.E419K|ZHX3_ENST00000558993.1_Intron|ZHX3_ENST00000432768.2_Missense_Mutation_p.E419K|ZHX3_ENST00000540170.1_Missense_Mutation_p.E419K|ZHX3_ENST00000560361.1_Missense_Mutation_p.E419K|ZHX3_ENST00000559234.1_Missense_Mutation_p.E419K|ZHX3_ENST00000557816.1_Intron			Q9H4I2	ZHX3_HUMAN	zinc fingers and homeoboxes 3	419	Required for homodimerization and interaction with NFYA.|Required for repressor activity.				negative regulation of transcription, DNA-dependent	cytoplasm|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(5)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		Myeloproliferative disorder(115;0.00425)				CCTGTACCCTCTGGCTGCCCC	0.582000													29	35					0	0	0.007291	0	0
C12orf77	196415	broad.mit.edu	37	12	25149238	25149238	+	Silent	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr12:25149238G>A	ENST00000549828.1	-	2	243	c.39C>T	c.(37-39)ctC>ctT	p.L13L	C12orf77_ENST00000549262.1_5'UTR|C12orf77_ENST00000434912.3_5'UTR	NM_001101339.1	NP_001094809.1	C9JDV5	CL097_HUMAN	chromosome 12 open reading frame 77	13										endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	7						TTATGACTAGGAGGGAAATGT	0.408000													14	57					0	0	0.004990	0	0
ITSN2	50618	broad.mit.edu	37	2	24535188	24535188	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr2:24535188G>A	ENST00000355123.4	-	5	688	c.245C>T	c.(244-246)gCt>gTt	p.A82V	ITSN2_ENST00000407704.1_5'UTR|ITSN2_ENST00000361999.3_Missense_Mutation_p.A82V|ITSN2_ENST00000406921.3_Missense_Mutation_p.A82V	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	82	EF-hand 1.|EH 1.				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)					GAGTTTCATAGCTATGGAGAA	0.443000													40	58					0	0	0.008740	0	0
UGT2B4	7363	broad.mit.edu	37	4	70361469	70361469	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr4:70361469C>T	ENST00000305107.6	-	1	157	c.111G>A	c.(109-111)atG>atA	p.M37I	UGT2B4_ENST00000506580.1_5'UTR|UGT2B4_ENST00000512583.1_Missense_Mutation_p.M37I|UGT2B4_ENST00000381096.3_Intron	NM_021139.2	NP_066962.2	P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B4	37					estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47						TCTTTATATTCATCCAGTGGC	0.468000													36	71					0	0	0.021022	0	0
NFX1	4799	broad.mit.edu	37	9	33366702	33366702	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr9:33366702C>A	ENST00000379540.3	+	22	3177	c.3115C>A	c.(3115-3117)Caa>Aaa	p.Q1039K	NFX1_ENST00000463421.1_3'UTR	NM_002504.4	NP_002495.2	Q12986	NFX1_HUMAN	nuclear transcription factor, X-box binding 1	1039	R3H.				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)		TGACTTGGCCCAAGTTTATGG	0.517000													40	63					2.6416e-12	3.00736e-12	0.006230	1	0
RNF113A	7737	broad.mit.edu	37	X	119005263	119005263	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chrX:119005263G>A	ENST00000371442.2	-	1	528	c.314C>T	c.(313-315)tCg>tTg	p.S105L		NM_006978.2	NP_008909.1	O15541	R113A_HUMAN	ring finger protein 113A	105							nucleic acid binding|zinc ion binding			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(6)	15						GGGTTTCGCCGAACGGGTGGA	0.557000													194	31					0	0	0.014410	0	0
PRDX4	10549	broad.mit.edu	37	X	23700610	23700610	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chrX:23700610C>G	ENST00000379341.4	+	5	822	c.697C>G	c.(697-699)Caa>Gaa	p.Q233E		NM_006406.1	NP_006397.1	Q13162	PRDX4_HUMAN	peroxiredoxin 4	233	Thioredoxin.				cell redox homeostasis|I-kappaB phosphorylation		thioredoxin peroxidase activity			lung(6)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	9						ACGTTTGGTTCAAGCATTCCA	0.378000													46	7					0	0	0.014410	0	0
L3MBTL2	83746	broad.mit.edu	37	22	41615486	41615486	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr22:41615486G>A	ENST00000216237.5	+	6	822	c.664G>A	c.(664-666)Gat>Aat	p.D222N		NM_031488.4	NP_113676.2	Q969R5	LMBL2_HUMAN	l(3)mbt-like 2 (Drosophila)	222					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	methylated histone residue binding|transcription corepressor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GCTCAACAGTGATGCTGTGCT	0.572000													39	53					0	0	0.009718	0	0
TRAPPC10	7109	broad.mit.edu	37	21	45507706	45507706	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr21:45507706C>G	ENST00000291574.4	+	17	2841	c.2666C>G	c.(2665-2667)cCa>cGa	p.P889R		NM_003274.4	NP_003265.3	P48553	TPC10_HUMAN	trafficking protein particle complex 10	889					vesicle-mediated transport	Golgi apparatus|integral to membrane	binding|sodium ion transmembrane transporter activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4)	41						CCTTCAGCCCCAGCACTCGGA	0.552000													37	58					0	0	0.017118	0	0
POM121L9P	29774	broad.mit.edu	37	22	24659512	24659512	+	RNA	SNP	A	A	G			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr22:24659512A>G	ENST00000414583.2	+	0	3037					NR_003714.1																						TGCCTGGGCCATGGAGCACTC	0.473000													3	16					0	0	0.004672	0	0
DQX1	165545	broad.mit.edu	37	2	74752218	74752218	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr2:74752218C>T	ENST00000404568.3	-	3	568	c.349G>A	c.(349-351)Gat>Aat	p.D117N	DQX1_ENST00000393951.2_Missense_Mutation_p.D117N	NM_133637.2	NP_598376.2	Q8TE96	DQX1_HUMAN	DEAQ box RNA-dependent ATPase 1	117	Helicase ATP-binding.					nucleus	ATP binding|helicase activity|nucleic acid binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	18						TCCATCTCATCAGCAACCCGC	0.622000													33	179					0	0	0.013726	0	0
UFD1L	7353	broad.mit.edu	37	22	19462610	19462610	+	Silent	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr22:19462610G>A	ENST00000263202.10	-	3	279	c.150C>T	c.(148-150)ccC>ccT	p.P50P	UFD1L_ENST00000360834.4_Intron|UFD1L_ENST00000484101.1_5'UTR|UFD1L_ENST00000399523.1_Silent_p.P50P	NM_001035247.2|NM_005659.6	NP_001030324.2|NP_005650.2	Q92890	UFD1_HUMAN	ubiquitin fusion degradation 1 like (yeast)						skeletal system development|ubiquitin-dependent protein catabolic process	cytosol|nucleus	protein binding|ubiquitin-specific protease activity			large_intestine(3)|upper_aerodigestive_tract(1)	4	Colorectal(54;0.0993)					CCAGGGCCGAGGGTGGCATAA	0.373000													31	55					0	0	0.015359	0	0
F5	2153	broad.mit.edu	37	1	169519105	169519105	+	Silent	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr1:169519105G>A	ENST00000367796.3	-	10	1746	c.1545C>T	c.(1543-1545)atC>atT	p.I515I	F5_ENST00000546081.1_3'UTR|F5_ENST00000367797.3_Silent_p.I515I			P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	515	F5/8 type A 2.|Plastocyanin-like 3.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	GCCCAGAGGCGATGTCTCTCA	0.423000													9	48					0	0	0.008291	0	0
RBM18	92400	broad.mit.edu	37	9	125009805	125009805	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr9:125009805G>A	ENST00000417201.3	-	4	459	c.319C>T	c.(319-321)Caa>Taa	p.Q107*	RBM18_ENST00000483428.1_5'UTR	NM_033117.3	NP_149108.1	Q96H35	RBM18_HUMAN	RNA binding motif protein 18	107							nucleotide binding|RNA binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)	7						ACCTTTACTTGAGCATGTGCC	0.498000													13	30					0	0	0.013537	0	0
DDX11	1663	broad.mit.edu	37	12	31256902	31256902	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr12:31256902G>A	ENST00000407793.2	+	27	3099	c.2848G>A	c.(2848-2850)Gag>Aag	p.E950K	DDX11_ENST00000545668.1_Missense_Mutation_p.E950K|DDX11_ENST00000251758.5_3'UTR|DDX11_ENST00000350437.4_3'UTR|DDX11_ENST00000228264.6_3'UTR	NM_030653.3|NM_152438.1	NP_085911.2|NP_689651.1	Q96FC9	DDX11_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11	950					G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitotic sister chromatid segregation|positive regulation of cell proliferation|S phase of mitotic cell cycle|sister chromatid cohesion	midbody|nuclear chromatin|nucleolus|spindle pole	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|RNA binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	57	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					GTGGAGTCCAGAGTGCTGCCA	0.592000										Multiple Myeloma(12;0.14)			6	6					0	0	0.001168	0	0
MIB1	57534	broad.mit.edu	37	18	19359586	19359586	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr18:19359586G>C	ENST00000261537.6	+	6	1112	c.848G>C	c.(847-849)gGa>gCa	p.G283A	MIB1_ENST00000578646.1_3'UTR	NM_020774.2	NP_065825.1	Q86YT6	MIB1_HUMAN	mindbomb E3 ubiquitin protein ligase 1	283					Notch signaling pathway	centrosome|nuclear membrane|plasma membrane	ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|ovary(5)	27			STAD - Stomach adenocarcinoma(5;0.212)			ACTACAACTGGAACTGTTTGT	0.388000													75	88					0	0	0.014410	0	0
GPR18	2841	broad.mit.edu	37	13	99908094	99908094	+	Silent	SNP	G	G	C			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr13:99908094G>C	ENST00000340807.3	-	3	589	c.33C>G	c.(31-33)gtC>gtG	p.V11V	GPR18_ENST00000397470.2_Silent_p.V11V|UBAC2_ENST00000376440.2_Intron|GPR18_ENST00000397473.2_Silent_p.V11V|UBAC2_ENST00000403766.3_Intron			Q14330	GPR18_HUMAN	G protein-coupled receptor 18	11						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(2)|large_intestine(2)|lung(6)	10	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Glycine(DB00145)	TGTTAAAAGGGACAGGTTGAT	0.323000													13	37					0	0	0.020292	0	0
MED27	9442	broad.mit.edu	37	9	134955169	134955169	+	Silent	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr9:134955169G>A	ENST00000292035.5	-	1	126	c.63C>T	c.(61-63)atC>atT	p.I21I	MED27_ENST00000357028.2_Silent_p.I21I|MED27_ENST00000474263.1_Silent_p.I21I	NM_004269.3	NP_004260.2	Q6P2C8	MED27_HUMAN	mediator complex subunit 27	21					regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	cytoplasm|nucleolus|transcription factor complex	protein binding|transcription coactivator activity			breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(5)|skin(1)|urinary_tract(1)	18		Myeloproliferative disorder(178;0.206)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000193)		GCAGCGCCTGGATGGCACTAA	0.612000													16	11					0	0	0.003163	0	0
N4BP2	55728	broad.mit.edu	37	4	40146392	40146392	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr4:40146392G>C	ENST00000261435.6	+	16	5531	c.5115G>C	c.(5113-5115)ttG>ttC	p.L1705F		NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN	NEDD4 binding protein 2	1705	Smr.					cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding			breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						TAGAACATTTGATGAGAGTTT	0.393000													10	27					0	0	0.008291	0	0
FKBP5	2289	broad.mit.edu	37	6	35588041	35588041	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr6:35588041G>C	ENST00000542713.1	-	4	418	c.261C>G	c.(259-261)atC>atG	p.I87M	FKBP5_ENST00000536438.1_Missense_Mutation_p.I87M|FKBP5_ENST00000357266.4_Missense_Mutation_p.I87M|FKBP5_ENST00000540787.1_Intron|FKBP5_ENST00000539068.1_Missense_Mutation_p.I87M	NM_001145777.1	NP_001139249.1	Q13451	FKBP5_HUMAN	FK506 binding protein 5	87	PPIase FKBP-type 1.				protein folding	cytoplasm|membrane|nucleus	FK506 binding|heat shock protein binding|peptidyl-prolyl cis-trans isomerase activity			breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(3)|urinary_tract(2)	17						CCCATGCCTTGATGACTTGGC	0.403000													40	41					0	0	0.009718	0	0
TFB1M	51106	broad.mit.edu	37	6	155619653	155619653	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr6:155619653C>G	ENST00000367166.4	-	3	407	c.352G>C	c.(352-354)Gaa>Caa	p.E118Q		NM_016020.3	NP_057104.2	Q8WVM0	TFB1M_HUMAN	transcription factor B1, mitochondrial	118					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial nucleoid	DNA binding|protein binding|rRNA (adenine-N6,N6-)-dimethyltransferase activity			lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;1.48e-12)|BRCA - Breast invasive adenocarcinoma(81;0.0131)		AAAGCCTTTTCTACCTTAAAT	0.338000													20	19					0	0	0.018920	0	0
FLNC	2318	broad.mit.edu	37	7	128486934	128486934	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr7:128486934C>G	ENST00000325888.8	+	24	4524	c.4263C>G	c.(4261-4263)atC>atG	p.I1421M	FLNC_ENST00000346177.6_Missense_Mutation_p.I1421M	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	1421					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						ACGTCAACATCACCTTCGGGG	0.602000													19	34					0	0	0.010504	0	0
TEC	7006	broad.mit.edu	37	4	48140938	48140938	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr4:48140938G>A	ENST00000381501.3	-	16	1794	c.1637C>T	c.(1636-1638)tCa>tTa	p.S546L		NM_003215.2	NP_003206.2	P42680	TEC_HUMAN	tec protein tyrosine kinase	546	Protein kinase.				intracellular protein kinase cascade	cytosol	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31						CCAGACATCTGATTTGCTGCT	0.443000													17	21					0	0	0.006122	0	0
DNAH1	25981	broad.mit.edu	37	3	52404221	52404221	+	Silent	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr3:52404221C>T	ENST00000420323.2	+	39	6495	c.6234C>T	c.(6232-6234)ttC>ttT	p.F2078F		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	2078					ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		TGGACTGCTTCTTCAAGCCCT	0.572000													14	27					0	0	0.020292	0	0
AFF4	27125	broad.mit.edu	37	5	132223670	132223670	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr5:132223670T>C	ENST00000265343.5	-	16	3180	c.2801A>G	c.(2800-2802)gAt>gGt	p.D934G		NM_014423.3	NP_055238.1	Q9UHB7	AFF4_HUMAN	AF4/FMR2 family, member 4	934					transcription from RNA polymerase II promoter	mitochondrion|nucleolus	protein binding|sequence-specific DNA binding transcription factor activity		SEPT8/AFF4(2)	breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(7)|lung(11)|ovary(3)|pancreas(1)|prostate(3)|skin(2)	43		all_cancers(142;0.145)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CTCAAACCTATCAGACTGAAG	0.348000													20	11					0	0	0.010504	0	0
UBN2	254048	broad.mit.edu	37	7	138936757	138936757	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr7:138936757G>C	ENST00000473989.3	+	3	617	c.617G>C	c.(616-618)gGc>gCc	p.G206A	UBN2_ENST00000288561.8_Missense_Mutation_p.G123A	NM_173569.3	NP_775840.3	Q6ZU65	UBN2_HUMAN	ubinuclein 2											NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	42						ATTGATATAGGCTTTGGCTAT	0.383000													21	56					0	0	0.016522	0	0
ADH1B	125	broad.mit.edu	37	4	100237199	100237199	+	Silent	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr4:100237199G>A	ENST00000305046.8	-	5	490	c.423C>T	c.(421-423)ttC>ttT	p.F141F	ADH1B_ENST00000394887.3_Silent_p.F101F			P00325	ADH1B_HUMAN	alcohol dehydrogenase 1B (class I), beta polypeptide	141					ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	33				OV - Ovarian serous cystadenocarcinoma(123;1.02e-07)	Fomepizole(DB01213)|NADH(DB00157)	TGGTGCCAAGGAAGTGGTGAA	0.577000													26	46					0	0	0.018920	0	0
DHX33	56919	broad.mit.edu	37	17	5371895	5371895	+	Silent	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr17:5371895G>A	ENST00000225296.3	-	1	485	c.285C>T	c.(283-285)ctC>ctT	p.L95L	DHX33_ENST00000433302.3_Silent_p.L95L	NM_001199699.1|NM_020162.3	NP_001186628.1|NP_064547.2	Q9H6R0	DHX33_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 33	95	Helicase ATP-binding.					nucleolus	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						ACTCACCGATGAGGACCGCGT	0.612000													5	16					0	0	0.001168	0	0
CDK5RAP2	55755	broad.mit.edu	37	9	123169489	123169489	+	Silent	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr9:123169489G>A	ENST00000349780.4	-	32	4943	c.4764C>T	c.(4762-4764)ttC>ttT	p.F1588F	CDK5RAP2_ENST00000359309.3_Silent_p.F1547F|CDK5RAP2_ENST00000360822.3_Silent_p.F1556F|CDK5RAP2_ENST00000360190.4_Intron	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	1588					brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding			breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						GCAGGTCCCTGAAAGGATCCT	0.567000													19	40					0	0	0.010504	0	0
SLC4A5	57835	broad.mit.edu	37	2	74531720	74531720	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr2:74531720T>G	ENST00000394019.2	-	7	564	c.167A>C	c.(166-168)aAa>aCa	p.K56T	SLC4A5_ENST00000423644.1_Missense_Mutation_p.K56T|SLC4A5_ENST00000358683.4_Intron|RP11-287D1.3_ENST00000451608.2_3'UTR|SLC4A5_ENST00000377632.1_Missense_Mutation_p.K56T|SLC4A5_ENST00000483195.1_Intron|SLC4A5_ENST00000346834.4_Missense_Mutation_p.K56T|SLC4A5_ENST00000377634.4_Missense_Mutation_p.K56T|SLC4A5_ENST00000357822.5_Missense_Mutation_p.K56T|SLC4A5_ENST00000359484.4_Intron	NM_133478.2	NP_597812.1	Q9BY07	S4A5_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 5	56						apical plasma membrane|integral to membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity			breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						CCAGTGGACTTTTTGCAGGCC	0.572000													32	182					0	0	0.012213	0	0
KIAA1683	80726	broad.mit.edu	37	19	18377736	18377736	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr19:18377736G>A	ENST00000392413.4	-	3	829	c.614C>T	c.(613-615)cCc>cTc	p.P205L	KIAA1683_ENST00000600328.3_Missense_Mutation_p.P205L|KIAA1683_ENST00000600359.3_Missense_Mutation_p.P159L	NM_001145304.1	NP_001138776.1	Q9H0B3	K1683_HUMAN	KIAA1683							mitochondrion				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						GGACGACTGGGGTCTGCAGAG	0.642000													9	29					0	0	0.004482	0	0
LINC00969	440993	broad.mit.edu	37	3	195400795	195400795	+	RNA	SNP	C	C	T	rs7615357	by1000genomes	TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr3:195400795C>T	ENST00000445430.1	+	0	1391																											GGGGCAAACTCGCTGTTGGAC	0.592000													4	22					0	0	0.009096	0	0
TCEAL2	140597	broad.mit.edu	37	X	101381895	101381895	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chrX:101381895A>C	ENST00000372780.1	+	3	312	c.93A>C	c.(91-93)gaA>gaC	p.E31D	TCEAL2_ENST00000329035.2_Missense_Mutation_p.E31D	NM_080390.3	NP_525129.1	Q9H3H9	TCAL2_HUMAN	transcription elongation factor A (SII)-like 2	31					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)	11						GAAAGCCAGAAGTAGCTTGTA	0.423000													3	40					0	0	0.009096	0	0
ARVCF	421	broad.mit.edu	37	22	19965031	19965031	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr22:19965031G>A	ENST00000263207.3	-	9	2068	c.1777C>T	c.(1777-1779)Cag>Tag	p.Q593*	ARVCF_ENST00000344269.3_Nonsense_Mutation_p.Q530*|ARVCF_ENST00000406522.1_Nonsense_Mutation_p.Q530*|ARVCF_ENST00000401994.1_Nonsense_Mutation_p.Q530*|ARVCF_ENST00000406259.1_Nonsense_Mutation_p.Q593*	NM_001670.2	NP_001661.1	O00192	ARVC_HUMAN	armadillo repeat gene deleted in velocardiofacial syndrome	593					cell adhesion|multicellular organismal development		protein binding			NS(1)|cervix(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|urinary_tract(2)	13	Colorectal(54;0.0993)					TCGGCCTCCTGGTACCTGTCG	0.662000													58	89					0	0	0.014410	0	0
XKR8	55113	broad.mit.edu	37	1	28290197	28290197	+	Silent	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr1:28290197C>T	ENST00000373884.5	+	2	1091	c.483C>T	c.(481-483)taC>taT	p.Y161Y	XKR8_ENST00000481387.1_3'UTR	NM_018053.2	NP_060523.2	Q9H6D3	XKR8_HUMAN	XK, Kell blood group complex subunit-related family, member 8	161						integral to membrane				endometrium(1)|large_intestine(2)|lung(1)	4		Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00588)|all_lung(284;0.00645)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;4.72e-24)|Colorectal(126;1.52e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00572)|READ - Rectum adenocarcinoma(331;0.0526)		GGGCTGAGTACTACCAGTGTG	0.567000													12	4					0	0	0.010729	0	0
AK7	122481	broad.mit.edu	37	14	96949491	96949491	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr14:96949491G>A	ENST00000267584.4	+	16	1953	c.1909G>A	c.(1909-1911)Gaa>Aaa	p.E637K		NM_152327.3	NP_689540.2	Q96M32	KAD7_HUMAN	adenylate kinase 7	637	Glu-rich.				cell projection organization	cytosol	adenylate kinase activity|ATP binding|cytidylate kinase activity	p.E637K(1)		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)		GGCTGCTGAGGAAGCAGAACG	0.567000													16	8					0	0	0.003163	0	0
ACTR3	10096	broad.mit.edu	37	2	114713209	114713209	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr2:114713209A>G	ENST00000263238.2	+	11	1407	c.1087A>G	c.(1087-1089)Att>Gtt	p.I363V	ACTR3_ENST00000536059.1_Missense_Mutation_p.I301V|ACTR3_ENST00000535589.2_Missense_Mutation_p.I312V	NM_001277140.1|NM_005721.3	NP_001264069.1|NP_005712.1	P61158	ARP3_HUMAN	ARP3 actin-related protein 3 homolog (yeast)	363					cellular component movement|cilium morphogenesis	Arp2/3 protein complex	actin binding|ATP binding			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(2)	15						GCCAAAACCTATTGATGTACA	0.343000													7	60					0	0	0.001984	0	0
IHH	3549	broad.mit.edu	37	2	219920154	219920154	+	Silent	SNP	T	T	G			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr2:219920154T>G	ENST00000295731.6	-	3	1010	c.1011A>C	c.(1009-1011)acA>acC	p.T337T		NM_002181.3	NP_002172.2	Q14623	IHH_HUMAN	indian hedgehog						cell-cell signaling|intein-mediated protein splicing|proteolysis	extracellular space|plasma membrane	cholesterol binding|patched binding|peptidase activity			breast(1)|endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	14		Renal(207;0.0915)		Epithelial(149;1.13e-06)|all cancers(144;0.000188)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCACCACCAGTGTCCCATGCT	0.662000													23	28					0	0	0.021523	0	0
ERCC2	2068	broad.mit.edu	37	19	45867774	45867774	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr19:45867774T>C	ENST00000391945.4	-	8	703	c.626A>G	c.(625-627)tAc>tGc	p.Y209C	ERCC2_ENST00000221481.6_Intron|ERCC2_ENST00000391940.4_Missense_Mutation_p.Y185C|ERCC2_ENST00000391944.3_Missense_Mutation_p.Y131C|ERCC2_ENST00000485403.2_Missense_Mutation_p.Y185C	NM_000400.3	NP_000391.1	P18074	ERCC2_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 2	209	Helicase ATP-binding.				cell cycle checkpoint|chromosome segregation|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|UV protection|viral reproduction	cytoplasm|holo TFIIH complex|MMXD complex	5'-3' DNA helicase activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding|protein C-terminus binding|protein N-terminus binding			large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|stomach(1)	9		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		GAGGTAGTGGTAGCTATAAAC	0.632000			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				14	39					0	0	0.020292	0	0
HMGN1	3150	broad.mit.edu	37	21	40720485	40720485	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr21:40720485C>G	ENST00000380749.5	-	2	316	c.34G>C	c.(34-36)Gcc>Ccc	p.A12P	HMGN1_ENST00000380748.1_Missense_Mutation_p.A12P|HMGN1_ENST00000489072.1_5'UTR|HMGN1_ENST00000380747.1_Missense_Mutation_p.A28P	NM_004965.6	NP_004956.5	P05114	HMGN1_HUMAN	high mobility group nucleosome binding domain 1	12					positive regulation of transcription elongation, DNA-dependent	chromatin|cytoplasm|nucleus	DNA binding			breast(2)|lung(1)	3		Prostate(19;8.69e-07)				TCCTTGGCGGCGCCTTCGGCG	0.677000													7	30					0	0	0.001984	0	0
SRPX2	27286	broad.mit.edu	37	X	99919817	99919817	+	Silent	SNP	C	C	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chrX:99919817C>A	ENST00000373004.3	+	5	830	c.402C>A	c.(400-402)acC>acA	p.T134T		NM_014467.2	NP_055282.1	O60687	SRPX2_HUMAN	sushi-repeat containing protein, X-linked 2	134	Sushi 2.				angiogenesis|cell motility|cell-cell adhesion|positive regulation of cell migration involved in sprouting angiogenesis|regulation of phosphorylation	cytoplasm|extracellular region	receptor binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(2)|upper_aerodigestive_tract(1)	19						GCACTTACACCTGCACAAATG	0.512000													3	13					0.004672	0.00503487	0.004672	1	0
ZFP14	57677	broad.mit.edu	37	19	36832186	36832186	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr19:36832186A>C	ENST00000270001.7	-	5	657	c.542T>G	c.(541-543)tTt>tGt	p.F181C		NM_020917.2	NP_065968.1	Q9HCL3	ZFP14_HUMAN	ZFP14 zinc finger protein	181					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	26	Esophageal squamous(110;0.162)					GCGACGAATAAAGGTCTTCCT	0.403000													24	52					0	0	0.018920	0	0
CDK5RAP2	55755	broad.mit.edu	37	9	123170639	123170639	+	Missense_Mutation	SNP	T	T	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr9:123170639T>A	ENST00000349780.4	-	31	4891	c.4712A>T	c.(4711-4713)cAc>cTc	p.H1571L	CDK5RAP2_ENST00000359309.3_Missense_Mutation_p.H1530L|CDK5RAP2_ENST00000360822.3_Missense_Mutation_p.H1539L|CDK5RAP2_ENST00000360190.4_Missense_Mutation_p.H1571L	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	1571					brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding			breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						CAGTCTCCTGTGCTCTTCATC	0.557000													36	35					0	0	0.021022	0	0
ZNF300	91975	broad.mit.edu	37	5	150275116	150275116	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr5:150275116G>A	ENST00000446148.2	-	7	2160	c.1733C>T	c.(1732-1734)tCa>tTa	p.S578L	ZNF300_ENST00000274599.5_Missense_Mutation_p.S562L|ZNF300_ENST00000427179.1_3'UTR|ZNF300_ENST00000394226.2_Missense_Mutation_p.S562L|ZNF300_ENST00000418587.2_Missense_Mutation_p.S526L	NM_001172831.1	NP_001166302.1	Q96RE9	ZN300_HUMAN	zinc finger protein 300	562					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)	27		Medulloblastoma(196;0.109)|all_hematologic(541;0.131)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AACAAGGTCTGACTTCTGAGA	0.458000													34	15					0	0	0.015359	0	0
DNAH7	56171	broad.mit.edu	37	2	196729415	196729415	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr2:196729415G>T	ENST00000312428.6	-	41	7064	c.6964C>A	c.(6964-6966)Cac>Aac	p.H2322N		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2322	AAA 4 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						CTGCTGATGTGCTCTATGGCA	0.448000													5	60					3.59834e-05	3.99415e-05	0.001168	1	0
IL1RAPL2	26280	broad.mit.edu	37	X	105011334	105011334	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chrX:105011334C>A	ENST00000372582.1	+	11	2497	c.1741C>A	c.(1741-1743)Ctc>Atc	p.L581I	IL1RAPL2_ENST00000344799.4_Missense_Mutation_p.L581I	NM_017416.1	NP_059112.1	Q9NP60	IRPL2_HUMAN	interleukin 1 receptor accessory protein-like 2	581					central nervous system development|innate immune response	integral to membrane	interleukin-1, Type II, blocking receptor activity			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						TTTTGGAGAACTCCAGCCTAT	0.453000													7	54					5.18039e-06	5.79369e-06	0.003080	1	0
NTRK2	4915	broad.mit.edu	37	9	87338604	87338604	+	Missense_Mutation	SNP	A	A	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr9:87338604A>T	ENST00000304053.6	+	7	1183	c.700A>T	c.(700-702)Aac>Tac	p.N234Y	NTRK2_ENST00000359847.3_Missense_Mutation_p.N234Y|NTRK2_ENST00000395866.2_Missense_Mutation_p.N78Y|NTRK2_ENST00000376213.1_Missense_Mutation_p.N234Y|NTRK2_ENST00000323115.4_Missense_Mutation_p.N234Y|NTRK2_ENST00000376214.1_Missense_Mutation_p.N234Y|NTRK2_ENST00000395882.1_Missense_Mutation_p.N234Y|NTRK2_ENST00000277120.3_Missense_Mutation_p.N234Y|NTRK2_ENST00000376208.1_Missense_Mutation_p.N234Y	NM_001018065.2	NP_001018075.1	Q16620	NTRK2_HUMAN	neurotrophic tyrosine kinase, receptor, type 2	234	Ig-like C2-type 1.				activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development	integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein tyrosine kinase activity			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	46						GGATGTTGGTAACCTGGTTTC	0.433000										TSP Lung(25;0.17)			17	88					0	0	0.007413	0	0
NAP1L1	4673	broad.mit.edu	37	12	76447574	76447574	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr12:76447574C>T	ENST00000261182.8	-	9	1232	c.746G>A	c.(745-747)gGa>gAa	p.G249E	NAP1L1_ENST00000548044.1_Missense_Mutation_p.G208E|NAP1L1_ENST00000431879.3_Missense_Mutation_p.G181E|NAP1L1_ENST00000547773.1_Missense_Mutation_p.G186E|NAP1L1_ENST00000393263.3_Missense_Mutation_p.G249E|NAP1L1_ENST00000547993.1_Missense_Mutation_p.G66E|NAP1L1_ENST00000535020.2_Missense_Mutation_p.G249E|NAP1L1_ENST00000542344.1_Missense_Mutation_p.G207E|NAP1L1_ENST00000549596.1_Missense_Mutation_p.G249E|NAP1L1_ENST00000552342.1_Missense_Mutation_p.G260E|NAP1L1_ENST00000544816.1_Missense_Mutation_p.G66E	NM_004537.4|NM_139207.2	NP_004528.1|NP_631946.1	P55209	NP1L1_HUMAN	nucleosome assembly protein 1-like 1	249					DNA replication|nucleosome assembly|positive regulation of cell proliferation	chromatin assembly complex|melanosome	protein binding			kidney(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|skin(1)	9		Colorectal(145;0.09)				AATTTCTGGTCCATCAAAAGA	0.323000													8	24					0	0	0.003080	0	0
ESRP2	80004	broad.mit.edu	37	16	68269814	68269814	+	Silent	SNP	C	C	G			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr16:68269814C>G	ENST00000473183.2	-	1	673	c.135G>C	c.(133-135)ctG>ctC	p.L45L	ESRP2_ENST00000565858.1_Silent_p.L45L			Q9H6T0	ESRP2_HUMAN	epithelial splicing regulatory protein 2	45					mRNA processing|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding|nucleotide binding			NS(1)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)	16						CGTCCGAGCCCAGGTCCCGTC	0.706000													10	11					0	0	0.008291	0	0
RGMA	56963	broad.mit.edu	37	15	93588760	93588760	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr15:93588760G>T	ENST00000329082.7	-	4	1092	c.821C>A	c.(820-822)gCc>gAc	p.A274D	RGMA_ENST00000557420.1_3'UTR|RGMA_ENST00000557301.1_Missense_Mutation_p.A282D|RGMA_ENST00000538818.1_Missense_Mutation_p.A165D|RGMA_ENST00000425933.2_Missense_Mutation_p.A258D|RGMA_ENST00000543599.1_Missense_Mutation_p.A258D|RGMA_ENST00000542321.2_Missense_Mutation_p.A258D|RGMA_ENST00000556658.1_Missense_Mutation_p.A165D	NM_020211.2	NP_064596	Q96B86	RGMA_HUMAN	repulsive guidance molecule family member a	274					axon guidance	anchored to membrane|endoplasmic reticulum|plasma membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	9	Lung NSC(78;0.0542)|all_lung(78;0.0786)		BRCA - Breast invasive adenocarcinoma(143;0.0312)|OV - Ovarian serous cystadenocarcinoma(32;0.108)			GATGTACTTGGCCTGGATCTC	0.617000													27	9					3.1745e-13	3.65149e-13	0.008361	1	0
TACC2	10579	broad.mit.edu	37	10	123845774	123845774	+	Silent	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr10:123845774G>A	ENST00000369005.1	+	4	4099	c.3759G>A	c.(3757-3759)gtG>gtA	p.V1253V	TACC2_ENST00000515273.1_Silent_p.V1253V|TACC2_ENST00000453444.2_Silent_p.V1253V|TACC2_ENST00000334433.3_Silent_p.V1253V|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000515603.1_Silent_p.V1253V|TACC2_ENST00000358010.1_Intron	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	1253						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				ACAGTGGAGTGAAAGCTGTTT	0.592000													36	54					0	0	0.005524	0	0
PRAMEF11	440560	broad.mit.edu	37	1	12887612	12887612	+	Missense_Mutation	SNP	T	T	C	rs60558629		TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr1:12887612T>C	ENST00000535591.1	-	3	440	c.245A>G	c.(244-246)cAt>cGt	p.H82R		NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	82								p.H82R(1)		NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						GAAGCACCCATGGGCCATAGC	0.488000													5	358					0	0	0.001168	0	0
WDR36	134430	broad.mit.edu	37	5	110445967	110445967	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr5:110445967C>T	ENST00000506538.2	+	13	2147	c.1574C>T	c.(1573-1575)tCt>tTt	p.S525F	WDR36_ENST00000505303.1_Missense_Mutation_p.S469F|WDR36_ENST00000513710.2_Missense_Mutation_p.S525F	NM_139281.2	NP_644810.1	Q8NI36	WDR36_HUMAN	WD repeat domain 36	525					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)		AACATGCAGTCTGGCATACAT	0.358000													29	16					0	0	0.008361	0	0
KCNA6	3742	broad.mit.edu	37	12	4920654	4920654	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr12:4920654G>A	ENST00000433855.1	+	1	2313	c.1447G>A	c.(1447-1449)Ggg>Agg	p.G483R	KCNA6_ENST00000280684.3_Missense_Mutation_p.G483R	NM_002235.3	NP_002226.1	P17658	KCNA6_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 6	483						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49						CGTCACTTGTGGGCAGCCTGC	0.607000										HNSCC(72;0.22)			21	48					0	0	0.012319	0	0
HIST1H2BI	8346	broad.mit.edu	37	6	26273432	26273432	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr6:26273432G>A	ENST00000377733.2	+	1	289	c.229G>A	c.(229-231)Gag>Aag	p.E77K		NM_003525.2	NP_003516.1	P62807	H2B1C_HUMAN	histone cluster 1, H2bi	77					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding	p.E77Q(2)|p.E77K(2)		central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(1)|lung(8)|urinary_tract(1)	16						CATTGCAGGCGAGGCTTCCCG	0.587000													32	111					0	0	0.010818	0	0
BIRC6	57448	broad.mit.edu	37	2	32738106	32738106	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr2:32738106G>A	ENST00000421745.2	+	54	10587	c.10453G>A	c.(10453-10455)Ggt>Agt	p.G3485S		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	3485					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					AGTAGAGTATGGTCTTCTGAT	0.453000													10	81					0	0	0.006214	0	0
ZFPM2	23414	broad.mit.edu	37	8	106814151	106814151	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr8:106814151C>A	ENST00000407775.2	+	8	2091	c.1841C>A	c.(1840-1842)gCt>gAt	p.A614D	ZFPM2_ENST00000522296.1_3'UTR|ZFPM2_ENST00000378472.4_Missense_Mutation_p.A345D|ZFPM2_ENST00000517361.1_Missense_Mutation_p.A482D|RP11-152P17.2_ENST00000521622.1_RNA|RP11-152P17.2_ENST00000524045.2_RNA|RP11-152P17.2_ENST00000509144.2_RNA|RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000520594.1_RNA|ZFPM2_ENST00000520492.1_Missense_Mutation_p.A482D	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	614					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			GCTCATTCTGCTGATCCTGAG	0.463000													11	62					3.86212e-05	4.26562e-05	0.008291	1	0
MAP4K2	5871	broad.mit.edu	37	11	64570095	64570095	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr11:64570095A>G	ENST00000294066.2	-	3	276	c.185T>C	c.(184-186)aTc>aCc	p.I62T	MAP4K2_ENST00000468062.1_5'UTR|MAP4K2_ENST00000377350.3_Missense_Mutation_p.I62T	NM_004579.3	NP_004570.2	Q12851	M4K2_HUMAN	mitogen-activated protein kinase kinase kinase kinase 2	62	Protein kinase.				activation of JUN kinase activity|immune response|positive regulation of JNK cascade|vesicle targeting	basolateral plasma membrane|Golgi membrane|soluble fraction	ATP binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine kinase activity|small GTPase regulator activity			cervix(1)|lung(3)|ovary(1)|pancreas(1)|urinary_tract(2)	8						CAGGATGGTGATTTCCTGCTG	0.617000													11	20					0	0	0.003163	0	0
EVX2	344191	broad.mit.edu	37	2	176947052	176947052	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr2:176947052C>T	ENST00000308618.4	-	2	689	c.553G>A	c.(553-555)Gcg>Acg	p.A185T		NM_001080458.1	NP_001073927.1	Q03828	EVX2_HUMAN	even-skipped homeobox 2	185						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(3)|liver(1)|lung(8)|ovary(3)	16			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	READ - Rectum adenocarcinoma(9;0.0678)|Colorectal(32;0.115)		ACTTGATCCGCGCCAGAGCCG	0.721000													3	11					0	0	0.004672	0	0
CDK17	5128	broad.mit.edu	37	12	96728597	96728597	+	Missense_Mutation	SNP	T	T	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr12:96728597T>A	ENST00000261211.3	-	2	621	c.18A>T	c.(16-18)agA>agT	p.R6S	CDK17_ENST00000542666.1_Intron|CDK17_ENST00000543119.2_Missense_Mutation_p.R6S	NM_001170464.2|NM_002595.4	NP_001163935.1|NP_002586.2	Q00537	CDK17_HUMAN	cyclin-dependent kinase 17	6							ATP binding|cyclin-dependent protein kinase activity			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(11)|ovary(4)|prostate(2)|skin(1)	37						GGGATAGCCTTCTCTTAAATT	0.338000													5	14					0	0	0.001168	0	0
STAP2	55620	broad.mit.edu	37	19	4338736	4338736	+	Silent	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr19:4338736C>T	ENST00000600324.1	-	1	82	c.15G>A	c.(13-15)ctG>ctA	p.L5L	STAP2_ENST00000594605.1_Silent_p.L5L	NM_017720.2	NP_060190.2	Q9UGK3	STAP2_HUMAN	signal transducing adaptor family member 2	5						cytoplasm|nucleus	protein binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0339)|STAD - Stomach adenocarcinoma(1328;0.18)		GGGGTGGCCTCAGGGCAGAGG	0.627000													9	26					0	0	0.010729	0	0
EP300	2033	broad.mit.edu	37	22	41565529	41565529	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr22:41565529G>T	ENST00000263253.7	+	26	5414	c.4195G>T	c.(4195-4197)Gat>Tat	p.D1399Y	RP1-85F18.6_ENST00000415054.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	1399					apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding	p.D1399N(5)|p.D1399Y(2)		NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						ATCTTACCTCGATAGTGTTCA	0.338000			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome				30	55					1.08312e-15	1.25563e-15	0.009535	1	0
AUNIP	79000	broad.mit.edu	37	1	26161564	26161564	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr1:26161564C>T	ENST00000374298.3	-	3	1048	c.994G>A	c.(994-996)Ggg>Agg	p.G332R	AUNIP_ENST00000481602.1_Intron|AUNIP_ENST00000538789.1_Missense_Mutation_p.G332R	NM_024037.1	NP_076942.1			aurora kinase A and ninein interacting protein																		TGAGTTGGCCCATCCTCCTGG	0.443000													35	492					0	0	0.017118	0	0
TBP	6908	broad.mit.edu	37	6	170871088	170871088	+	Silent	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr6:170871088G>A	ENST00000392092.2	+	3	543	c.264G>A	c.(262-264)caG>caA	p.Q88Q	TBP_ENST00000230354.6_Silent_p.Q88Q|TBP_ENST00000540980.1_Silent_p.Q68Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	88	Poly-Gln.				cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction	transcription factor TFIIA complex|transcription factor TFIID complex	repressing transcription factor binding|transcription regulatory region DNA binding	p.Q88Q(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		agcagcagcagcagcagcagc	0.612000													4	20					0	0	0.014758	0	0
HSP90AA1	3320	broad.mit.edu	37	14	102550300	102550300	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr14:102550300C>T	ENST00000334701.7	-	8	1815	c.1534G>A	c.(1534-1536)Gac>Aac	p.D512N	HSP90AA1_ENST00000441629.2_Missense_Mutation_p.D211N|HSP90AA1_ENST00000216281.8_Missense_Mutation_p.D390N	NM_001017963.2	NP_001017963.2	P07900	HS90A_HUMAN	heat shock protein 90kDa alpha (cytosolic), class A member 1	390					axon guidance|cellular chaperone-mediated protein complex assembly|G2/M transition of mitotic cell cycle|nitric oxide metabolic process|positive regulation of nitric oxide biosynthetic process|protein import into mitochondrial outer membrane|protein refolding|regulation of nitric-oxide synthase activity|response to unfolded protein|signal transduction	cytosol|melanosome|plasma membrane	ATP binding|ATPase activity|nitric-oxide synthase regulator activity|protein homodimerization activity|TPR domain binding|unfolded protein binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(6)|large_intestine(3)|liver(1)|lung(10)|ovary(2)|prostate(1)	28					Rifabutin(DB00615)	TCCTCCGAGTCTACCACCCCT	0.363000													19	10					0	0	0.010504	0	0
LEPR	3953	broad.mit.edu	37	1	66102578	66102578	+	Silent	SNP	T	T	C			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr1:66102578T>C	ENST00000349533.6	+	20	3563	c.3378T>C	c.(3376-3378)aaT>aaC	p.N1126N	LEPR_ENST00000406510.3_Silent_p.N193N	NM_002303.5	NP_002294.2	P48357	LEPR_HUMAN	leptin receptor	1126					energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		TTGTAGAAAATAATATCAACT	0.403000													5	22					0	0	0.001168	0	0
NCMAP	400746	broad.mit.edu	37	1	24932122	24932122	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr1:24932122G>A	ENST00000374392.2	+	4	259	c.193G>A	c.(193-195)Gag>Aag	p.E65K	NCMAP_ENST00000486262.1_3'UTR	NM_001010980.4	NP_001010980.1			noncompact myelin associated protein																		GCGGGAACTAGAGCCCAAGGG	0.587000													51	29					0	0	0.014410	0	0
LPIN2	9663	broad.mit.edu	37	18	2954522	2954522	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr18:2954522C>T	ENST00000261596.4	-	3	506	c.268G>A	c.(268-270)Gag>Aag	p.E90K	RP11-737O24.2_ENST00000584431.1_RNA	NM_014646.2	NP_055461.1	Q92539	LPIN2_HUMAN	lipin 2	90	N-LIP.				fatty acid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|triglyceride biosynthetic process	cytosol|endoplasmic reticulum membrane|nucleus	phosphatidate phosphatase activity|transcription coactivator activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	29				READ - Rectum adenocarcinoma(2;0.0419)|Colorectal(6;0.156)		TCAGTCTCCTCAACAAAGAAA	0.453000													18	23					0	0	0.007413	0	0
SLCO2A1	6578	broad.mit.edu	37	3	133667440	133667440	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr3:133667440G>A	ENST00000310926.4	-	8	1318	c.1045C>T	c.(1045-1047)Ctc>Ttc	p.L349F	SLCO2A1_ENST00000493729.1_Missense_Mutation_p.L273F	NM_005630.2	NP_005621.2	Q92959	SO2A1_HUMAN	solute carrier organic anion transporter family, member 2A1	349					sodium-independent organic anion transport	integral to plasma membrane|membrane fraction	prostaglandin transmembrane transporter activity|protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2)	30						AACTTGTTGAGGAAGGTGGAG	0.572000													4	169					0	0	0.009096	0	0
TCF25	22980	broad.mit.edu	37	16	89958628	89958628	+	Silent	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr16:89958628C>T	ENST00000263346.8	+	6	698	c.642C>T	c.(640-642)ccC>ccT	p.P214P	TCF25_ENST00000263347.7_5'UTR	NM_014972.2	NP_055787.1	Q9BQ70	TCF25_HUMAN	transcription factor 25 (basic helix-loop-helix)	214					heart development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	p.P214L(1)		breast(1)|endometrium(2)|large_intestine(1)|lung(8)|ovary(3)|skin(1)|urinary_tract(2)	18		all_cancers(9;4.71e-08)|Lung NSC(15;0.000192)|all_lung(18;0.000319)|all_neural(9;0.0122)|all_hematologic(23;0.027)		BRCA - Breast invasive adenocarcinoma(80;0.0288)		GTGTGTACCCCAAGTGCACAT	0.617000													4	21					0	0	0.001168	0	0
NLGN1	22871	broad.mit.edu	37	3	173996714	173996714	+	Missense_Mutation	SNP	A	A	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr3:173996714A>T	ENST00000457714.1	+	6	1352	c.923A>T	c.(922-924)cAa>cTa	p.Q308L	NLGN1_ENST00000545397.1_Missense_Mutation_p.Q308L|NLGN1_ENST00000361589.4_Missense_Mutation_p.Q308L|NLGN1_ENST00000401917.3_Missense_Mutation_p.Q348L|NLGN1_ENST00000466350.1_3'UTR	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	325					calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			GTTAGTTTTCAACCTGCAAAA	0.388000													11	23					0	0	0.013537	0	0
FRMD3	257019	broad.mit.edu	37	9	86153040	86153040	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr9:86153040A>G	ENST00000304195.3	-	1	313	c.107T>C	c.(106-108)aTc>aCc	p.I36T	FRMD3_ENST00000376438.1_Missense_Mutation_p.I36T	NM_001244960.1|NM_174938.5	NP_001231889.1|NP_777598.3	A2A2Y4	FRMD3_HUMAN	FERM domain containing 3	36	FERM.					cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane	cytoskeletal protein binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	30						CAGCAGCCGGATGGTGCATCT	0.652000													9	16					0	0	0.004482	0	0
ZFP57	346171	broad.mit.edu	37	6	29641397	29641397	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr6:29641397C>A	ENST00000376883.1	-	6	842	c.431G>T	c.(430-432)cGg>cTg	p.R144L	ZFP57_ENST00000488757.1_Missense_Mutation_p.R164L|ZFP57_ENST00000376881.3_Missense_Mutation_p.R144L			Q9NU63	ZFP57_HUMAN	ZFP57 zinc finger protein	80					DNA methylation involved in embryo development|regulation of gene expression by genetic imprinting|transcription, DNA-dependent		DNA binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(16)|ovary(4)|skin(4)|urinary_tract(5)	44						TTGAAGCACCCGGGTCCTGTC	0.572000													13	187					5.50884e-06	6.14554e-06	0.013537	1	0
MAP4K3	8491	broad.mit.edu	37	2	39499674	39499674	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr2:39499674G>A	ENST00000263881.3	-	25	2128	c.1804C>T	c.(1804-1806)Cga>Tga	p.R602*	MAP4K3_ENST00000437545.1_Nonsense_Mutation_p.R518*|MAP4K3_ENST00000341681.5_Nonsense_Mutation_p.R581*|MAP4K3_ENST00000536018.1_Nonsense_Mutation_p.R155*	NM_003618.3	NP_003609.2	Q8IVH8	M4K3_HUMAN	mitogen-activated protein kinase kinase kinase kinase 3	602	CNH.				JNK cascade		ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_hematologic(82;0.211)				GTACACCTTCGAGGGAATAGC	0.294000													32	72					0	0	0.005524	0	0
SACS	26278	broad.mit.edu	37	13	23906653	23906653	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr13:23906653G>A	ENST00000382298.3	-	10	11950	c.11362C>T	c.(11362-11364)Cgt>Tgt	p.R3788C	SACS_ENST00000402364.1_Missense_Mutation_p.R3038C|SACS_ENST00000382292.3_Missense_Mutation_p.R3788C	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	3788					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding	p.R3641C(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		AACTGAAAACGAAATTCCCTT	0.383000													28	48					0	0	0.005443	0	0
TYW1B	441250	broad.mit.edu	37	7	72298686	72298686	+	RNA	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr7:72298686C>T	ENST00000438904.2	-	0	67				TYW1B_ENST00000438125.1_RNA|TYW1B_ENST00000435769.2_RNA			Q6NUM6	TYW1B_HUMAN	tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae)						tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity										ACTAGGATCTCGGACCTGGAG	0.632000													9	17					0	0	0.008291	0	0
UPK1A	11045	broad.mit.edu	37	19	36157752	36157752	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr19:36157752C>T	ENST00000222275.2	+	1	38	c.38C>T	c.(37-39)tCt>tTt	p.S13F	UPK1A_ENST00000379013.2_Missense_Mutation_p.S13F	NM_007000.2	NP_008931.1	O00322	UPK1A_HUMAN	uroplakin 1A	13					epithelial cell differentiation|protein oligomerization	endoplasmic reticulum|integral to membrane	monosaccharide binding|protein homodimerization activity			breast(1)|large_intestine(4)|lung(2)|stomach(2)	9	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GAGAAGGGATCTCCAGTTGTG	0.622000													24	52					0	0	0.016522	0	0
SSH3	54961	broad.mit.edu	37	11	67071614	67071614	+	Missense_Mutation	SNP	G	G	A	rs138958962		TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr11:67071614G>A	ENST00000308127.4	+	2	270	c.92G>A	c.(91-93)cGa>cAa	p.R31Q	SSH3_ENST00000376757.5_Missense_Mutation_p.R31Q|SSH3_ENST00000532181.1_3'UTR|SSH3_ENST00000308298.7_Missense_Mutation_p.R31Q	NM_017857.3	NP_060327.3	Q8TE77	SSH3_HUMAN	slingshot protein phosphatase 3	31					regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton|nucleus	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			CGAAGGAGTCGACTCCAGCGA	0.692000													13	14					0	0	0.016723	0	0
ITGA4	3676	broad.mit.edu	37	2	182347105	182347105	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr2:182347105G>A	ENST00000397033.2	+	8	1289	c.859G>A	c.(859-861)Gat>Aat	p.D287N		NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	287					blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	ATTCAGCATTGATGAAAAAGA	0.308000													15	35					0	0	0.003163	0	0
INTS1	26173	broad.mit.edu	37	7	1544185	1544185	+	Silent	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr7:1544185C>T	ENST00000389470.4	-	2	116	c.117G>A	c.(115-117)cgG>cgA	p.R39R				Q8N201	INT1_HUMAN	integrator complex subunit 1	0					snRNA processing	integral to membrane|integrator complex|nuclear membrane				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		CGCATGTGGTCCGGTCCAGGT	0.771000													11	12					0	0	0.020292	0	0
EVL	51466	broad.mit.edu	37	14	100604145	100604145	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr14:100604145G>A	ENST00000544450.2	+	11	1395	c.1112G>A	c.(1111-1113)cGa>cAa	p.R371Q	EVL_ENST00000392920.3_Intron|EVL_ENST00000402714.2_Intron			Q9UI08	EVL_HUMAN	Enah/Vasp-like	365	EVH2.				actin polymerization or depolymerization|axon guidance|cell surface receptor linked signaling pathway|organ morphogenesis	cytoskeleton|cytosol|focal adhesion|lamellipodium	actin binding|profilin binding|SH3 domain binding			cervix(1)|large_intestine(5)|lung(3)|ovary(3)|urinary_tract(2)	14		Melanoma(154;0.152)				TCTAGGTACCGAACAACCCTC	0.567000													34	22					0	0	0.013726	0	0
ARHGAP5	394	broad.mit.edu	37	14	32562941	32562941	+	Silent	SNP	T	T	C			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr14:32562941T>C	ENST00000345122.3	+	2	3381	c.3066T>C	c.(3064-3066)caT>caC	p.H1022H	ARHGAP5_ENST00000433497.1_Intron|ARHGAP5_ENST00000539826.2_Silent_p.H1022H|ARHGAP5_ENST00000432921.1_Silent_p.H1022H|ARHGAP5_ENST00000556611.1_Silent_p.H1022H|ARHGAP5_ENST00000396582.2_Intron	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5	1022					cell adhesion|Rho protein signal transduction	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		ATCCTATTCATAGTACCCCAA	0.403000													15	65					0	0	0.003163	0	0
ADCK3	56997	broad.mit.edu	37	1	227152913	227152913	+	Silent	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr1:227152913C>T	ENST00000366779.1	+	8	3161	c.390C>T	c.(388-390)ttC>ttT	p.F130F	ADCK3_ENST00000366778.1_Silent_p.F78F|ADCK3_ENST00000478406.1_Intron|ADCK3_ENST00000366777.3_Silent_p.F130F|ADCK3_ENST00000458507.2_Intron			Q8NI60	ADCK3_HUMAN	aarF domain containing kinase 3	130					cell death	mitochondrion	ATP binding|protein serine/threonine kinase activity			endometrium(1)|kidney(2)|large_intestine(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	9						AAGCCGGGTTCCCCGGCCAGG	0.657000													16	28					0	0	0.004990	0	0
U2AF1	7307	broad.mit.edu	37	21	44524456	44524456	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr21:44524456G>A	ENST00000291552.4	-	2	193	c.101C>T	c.(100-102)tCt>tTt	p.S34F	U2AF1_ENST00000459639.1_5'UTR|U2AF1_ENST00000486519.1_5'UTR|U2AF1_ENST00000380276.2_Missense_Mutation_p.S34F|U2AF1_ENST00000398137.1_5'UTR	NM_006758.2	NP_006749.1	Q01081	U2AF1_HUMAN	U2 small nuclear RNA auxiliary factor 1	34					mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	Cajal body|catalytic step 2 spliceosome|nuclear speck	nucleotide binding|RNA binding|zinc ion binding	p.S34F(45)|p.S34Y(12)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(111)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	126						GTGCAACCGAGAGCACCTGTC	0.358000			Mis		"""CLL, MDS"""								8	14					0	0	0.004482	0	0
ZNF267	10308	broad.mit.edu	37	16	31927008	31927008	+	Missense_Mutation	SNP	A	A	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr16:31927008A>T	ENST00000300870.10	+	4	1647	c.1438A>T	c.(1438-1440)Att>Ttt	p.I480F		NM_001265588.1|NM_003414.5	NP_001252517.1|NP_003405	Q14586	ZN267_HUMAN	zinc finger protein 267	480					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(5)|kidney(1)|large_intestine(14)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	41						TTCAAATCTTATTATGCATCA	0.363000													11	56					0	0	0.008291	0	0
IKZF3	22806	broad.mit.edu	37	17	37947792	37947792	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr17:37947792G>A	ENST00000346872.3	-	5	530	c.469C>T	c.(469-471)Cag>Tag	p.Q157*	IKZF3_ENST00000377945.3_Intron|IKZF3_ENST00000377952.2_Intron|IKZF3_ENST00000377958.2_Nonsense_Mutation_p.Q70*|IKZF3_ENST00000394189.2_Intron|IKZF3_ENST00000467757.1_Intron|IKZF3_ENST00000350532.3_Nonsense_Mutation_p.Q157*|IKZF3_ENST00000377944.3_Intron|IKZF3_ENST00000351680.3_Nonsense_Mutation_p.Q157*|IKZF3_ENST00000346243.3_Nonsense_Mutation_p.Q157*|IKZF3_ENST00000439167.2_Nonsense_Mutation_p.Q123*|IKZF3_ENST00000439016.2_Intron|IKZF3_ENST00000535189.1_Nonsense_Mutation_p.Q123*	NM_012481.4	NP_036613.2	Q9UKT9	IKZF3_HUMAN	IKAROS family zinc finger 3 (Aiolos)	157					B cell activation|mesoderm development|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(6)|large_intestine(4)|liver(1)|lung(13)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42	Breast(7;4.5e-103)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			TTACCTTTCTGAGTAAAAGAT	0.448000													1024	103					0	0	0.014410	0	0
ITGA3	3675	broad.mit.edu	37	17	48153806	48153806	+	Silent	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr17:48153806C>T	ENST00000320031.8	+	13	2121	c.1791C>T	c.(1789-1791)ctC>ctT	p.L597L	ITGA3_ENST00000007722.7_Silent_p.L597L|ITGA3_ENST00000544892.1_3'UTR	NM_002204.2|NM_005501.2	NP_002195.1|NP_005492.1	P26006	ITA3_HUMAN	integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor)	597					blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|leukocyte migration	cell surface|integrin complex	protein binding|receptor activity			endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	31						ACCCGATCCTCAACCAGGCAC	0.647000													32	160					0	0	0.010818	0	0
SH3RF1	57630	broad.mit.edu	37	4	170028077	170028077	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr4:170028077G>A	ENST00000284637.9	-	11	2760	c.2419C>T	c.(2419-2421)Ccc>Tcc	p.P807S		NM_020870.3	NP_065921.2	Q7Z6J0	SH3R1_HUMAN	SH3 domain containing ring finger 1	807						Golgi apparatus|lamellipodium|perinuclear region of cytoplasm	ligase activity|zinc ion binding			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31		Prostate(90;0.00267)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)		GGAGCGATGGGAACTGCGGAG	0.587000													30	45					0	0	0.007291	0	0
GOLGB1	2804	broad.mit.edu	37	3	121413222	121413222	+	Silent	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr3:121413222G>A	ENST00000393667.3	-	13	6258	c.6148C>T	c.(6148-6150)Cta>Tta	p.L2050L	GOLGB1_ENST00000340645.5_Silent_p.L2045L	NM_001256486.1	NP_001243415.1	Q14789	GOGB1_HUMAN	golgin B1	2045					Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		ACAAATTCTAGAGCTTTAACA	0.373000													56	24					0	0	0.014410	0	0
LRRC37A4P	55073	broad.mit.edu	37	17	43587576	43587576	+	RNA	SNP	A	A	G	rs145439557	by1000genomes	TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr17:43587576A>G	ENST00000253803.2	+	0	267				LRRC37A4P_ENST00000579913.1_RNA																							tctgaaaagaaaagaaaaaaa	0.428000													4	42					0	0	0.009096	0	0
LRRTM3	347731	broad.mit.edu	37	10	68688007	68688007	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr10:68688007T>C	ENST00000361320.4	+	2	1911	c.1333T>C	c.(1333-1335)Tac>Cac	p.Y445H	CTNNA3_ENST00000433211.2_Intron|CTNNA3_ENST00000373744.4_Intron	NM_178011.3	NP_821079.3	Q86VH5	LRRT3_HUMAN	leucine rich repeat transmembrane neuronal 3	445						integral to membrane				breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	41						ATGGAAGCGGTACCCTGCGAG	0.552000													18	57					0	0	0.007413	0	0
TP53	7157	broad.mit.edu	37	17	7578500	7578500	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr17:7578500G>A	ENST00000420246.2	-	5	562	c.430C>T	c.(430-432)Cag>Tag	p.Q144*	TP53_ENST00000359597.4_Nonsense_Mutation_p.Q144*|TP53_ENST00000445888.2_Nonsense_Mutation_p.Q144*|TP53_ENST00000269305.4_Nonsense_Mutation_p.Q144*|TP53_ENST00000413465.2_Nonsense_Mutation_p.Q144*|TP53_ENST00000455263.2_Nonsense_Mutation_p.Q144*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	144	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q -> H (in sporadic cancers; somatic mutation).|Q -> K (in sporadic cancers; somatic mutation).|Q -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Q -> P (in sporadic cancers; somatic mutation).|Q -> R (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.Q144*(36)|p.0?(8)|p.Q144fs*25(3)|p.Q144K(2)|p.Q12*(2)|p.Q144fs*26(2)|p.Q51*(2)|p.Q144_G154del11(1)|p.L137_W146del10(1)|p.Q51fs*25(1)|p.Q144del(1)|p.Q144fs*32(1)|p.Q144fs*16(1)|p.P142_Q144delPVQ(1)|p.Q144fs*4(1)|p.Q12fs*25(1)|p.V143_S149del(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)		ACCCACAGCTGCACAGGGCAG	0.597000		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)			32	39					0	0	0.013726	0	0
SMAGP	57228	broad.mit.edu	37	12	51639758	51639758	+	Silent	SNP	G	G	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr12:51639758G>T	ENST00000603798.1	-	4	933	c.261C>A	c.(259-261)gcC>gcA	p.A87A	DAZAP2_ENST00000604900.1_Intron|SMAGP_ENST00000398453.3_Silent_p.A87A|DAZAP2_ENST00000425012.2_Intron|SMAGP_ENST00000605627.1_Silent_p.A73A|SMAGP_ENST00000603864.1_Silent_p.A87A	NM_001031628.1	NP_001026798.1	Q0VAQ4	SMAGP_HUMAN	small cell adhesion glycoprotein	87						cytoplasmic vesicle membrane|integral to membrane|plasma membrane											CGCTGCCCTTGGCCAAGTCAC	0.488000													22	36					3.8784e-16	4.50788e-16	0.012319	1	0
GPLD1	2822	broad.mit.edu	37	6	24454389	24454389	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr6:24454389C>T	ENST00000230036.1	-	14	1299	c.1189G>A	c.(1189-1191)Gac>Aac	p.D397N		NM_001503.3	NP_001494.2	P80108	PHLD_HUMAN	glycosylphosphatidylinositol specific phospholipase D1	397						extracellular region	glycosylphosphatidylinositol phospholipase D activity			breast(3)|endometrium(5)|kidney(1)|large_intestine(11)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	32						ACCACGAGGTCACCGTGCCCA	0.612000													20	30					0	0	0.008871	0	0
TMEM5	10329	broad.mit.edu	37	12	64199128	64199128	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr12:64199128G>A	ENST00000537373.1	+	5	1026	c.78G>A	c.(76-78)atG>atA	p.M26I	TMEM5_ENST00000261234.6_Missense_Mutation_p.M286I	NM_001278237.1	NP_001265166.1	Q9Y2B1	TMEM5_HUMAN	transmembrane protein 5	286						integral to plasma membrane				breast(1)|large_intestine(3)|liver(2)|lung(7)|prostate(1)|skin(1)	15		Myeloproliferative disorder(1001;0.0255)	BRCA - Breast invasive adenocarcinoma(9;0.0985)	GBM - Glioblastoma multiforme(28;9e-08)|BRCA - Breast invasive adenocarcinoma(357;0.000175)		AGGCACTAATGAACATTTTGA	0.368000													22	50					0	0	0.018920	0	0
PADI2	11240	broad.mit.edu	37	1	17402183	17402190	+	Frame_Shift_Del	DEL	GGGGATGG	GGGGATGG	-	rs146438183	byFrequency	TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr1:17402183_17402190delGGGGATGG	ENST00000375486.4	-	12	1502_1509	c.1439_1446delCCATCCCC	c.(1438-1446)cccatccccfs	p.PIP480fs	PADI2_ENST00000466151.1_5'UTR|PADI2_ENST00000444885.2_Frame_Shift_Del_p.PIP364fs	NM_007365.2	NP_031391.2	Q9Y2J8	PADI2_HUMAN	peptidyl arginine deiminase, type II	480					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(12)|ovary(4)|pancreas(1)|skin(5)|urinary_tract(3)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000422)|Renal(390;0.000518)|all_lung(284;0.000546)|Ovarian(437;0.00671)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;1.49e-05)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)	L-Citrulline(DB00155)	CCTTTGTGCCGGGGATGGGGACAAAGGA	0.591											OREG0013145	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	36	52	---	---	---	---					
KIDINS220	57498	broad.mit.edu	37	2	8919881	8919894	+	Frame_Shift_Del	DEL	TCTGAGTGAAGCTG	TCTGAGTGAAGCTG	-			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr2:8919881_8919894delTCTGAGTGAAGCTG	ENST00000256707.3	-	18	2461_2474	c.2280_2293delCAGCTTCACTCAGA	c.(2278-2295)gacagcttcactcagaatfs	p.DSFTQN760fs	KIDINS220_ENST00000319688.5_Frame_Shift_Del_p.DSFTQN761fs|KIDINS220_ENST00000427284.1_Frame_Shift_Del_p.DSFTQN760fs|KIDINS220_ENST00000473731.1_Frame_Shift_Del_p.DSFTQN760fs|KIDINS220_ENST00000418530.1_Frame_Shift_Del_p.DSFTQN718fs	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	760	KAP NTPase.				activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane		p.Q764*(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					CTTGTCTGATTCTGAGTGAAGCTGTCAATGGTTT	0.458													13	39	---	---	---	---					
USP39	10713	broad.mit.edu	37	2	85852670	85852684	+	In_Frame_Del	DEL	GAAGCCCACTTTCAC	GAAGCCCACTTTCAC	-			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr2:85852670_85852684delGAAGCCCACTTTCAC	ENST00000323701.6	+	5	589_603	c.579_593delGAAGCCCACTTTCAC	c.(577-594)ttgaagcccactttcaca>tta	p.KPTFT194del	USP39_ENST00000459775.1_3'UTR|USP39_ENST00000409025.1_In_Frame_Del_p.KPTFT194del|USP39_ENST00000409766.3_In_Frame_Del_p.KPTFT194del|USP39_ENST00000450066.2_In_Frame_Del_p.KPTFT91del|USP39_ENST00000409470.1_In_Frame_Del_p.KPTFT194del	NM_006590.3	NP_006581.2	Q53GS9	SNUT2_HUMAN	ubiquitin specific peptidase 39	194					spliceosome assembly|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin thiolesterase activity|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	19						AGTATGTGTTGAAGCCCACTTTCACAAAGCAGCAA	0.391													9	80	---	---	---	---					
TMEM131	23505	broad.mit.edu	37	2	98427639	98427639	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr2:98427639delT	ENST00000186436.5	-	18	2148	c.1920delA	c.(1918-1920)aaafs	p.K640fs		NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131	640						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						TCCCCTCTAATTTTTTTGCAG	0.393													9	442	---	---	---	---					
GRIP2	80852	broad.mit.edu	37	3	14555758	14555759	+	RNA	INS	-	-	AGTT	rs10656368	by1000genomes	TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr3:14555758_14555759insAGTT	ENST00000273083.3	-	0	1558							Q9C0E4	GRIP2_HUMAN	glutamate receptor interacting protein 2						synaptic transmission	cytosol|plasma membrane	protein binding			endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	25						CAGTTTCTCTCAGAGAGTGGCA	0.579													5	1	---	---	---	---					
SLC22A1	6580	broad.mit.edu	37	6	160560699	160560713	+	In_Frame_Del	DEL	TGCTCTATCAGGGGC	TGCTCTATCAGGGGC	-			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr6:160560699_160560713delTGCTCTATCAGGGGC	ENST00000366963.4	+	7	1223_1237	c.1076_1090delTGCTCTATCAGGGGC	c.(1075-1092)gtgctctatcaggggctc>gtc	p.LYQGL360del	SLC22A1_ENST00000457470.2_In_Frame_Del_p.LYQGL360del|SLC22A1_ENST00000324965.4_In_Frame_Del_p.LYQGL360del	NM_003057.2|NM_153187.1	NP_003048.1|NP_694857.1	O15245	S22A1_HUMAN	solute carrier family 22 (organic cation transporter), member 1	360						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)		ACGGACTCTGTGCTCTATCAGGGGCTCATCCTGCA	0.516													11	30	---	---	---	---					
CSTF2T	23283	broad.mit.edu	37	10	53459010	53459012	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr10:53459010_53459012delCTC	ENST00000331173.4	-	1	343_345	c.298_300delGAG	c.(298-300)gagdel	p.E100del	PRKG1_ENST00000373980.4_Intron|PRKG1_ENST00000373985.1_Intron|PRKG1_ENST00000401604.2_Intron	NM_015235.2	NP_056050.1	Q9H0L4	CSTFT_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa, tau variant	100					mRNA processing	nucleus	nucleotide binding|RNA binding			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	30				COAD - Colon adenocarcinoma(2;0.00736)|Colorectal(2;0.00898)|all cancers(4;0.0188)|GBM - Glioblastoma multiforme(4;0.0778)|Epithelial(53;0.122)		GGCTCTTTAACTCCTCCTTATTC	0.557													21	107	---	---	---	---					
DUSP8	1850	broad.mit.edu	37	11	1577819	1577820	+	Frame_Shift_Del	DEL	CG	CG	-	rs61747093		TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr11:1577819_1577820delCG	ENST00000397374.3	-	7	1933_1934	c.1806_1807delCG	c.(1804-1809)cgcggcfs	p.G603fs	DUSP8_ENST00000331588.4_Frame_Shift_Del_p.G603fs	NM_004420.2	NP_004411.2	Q13202	DUS8_HUMAN	dual specificity phosphatase 8	603					inactivation of MAPK activity	cytoplasm|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			endometrium(1)|lung(2)|prostate(1)|urinary_tract(1)	5		all_epithelial(84;0.000134)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000621)|Lung(200;0.0687)|LUSC - Lung squamous cell carcinoma(625;0.0825)		AGCTCCTCGCCGCGCGCGCGCC	0.752													4	5	---	---	---	---					
KMT2A	4297	broad.mit.edu	37	11	118392755	118392756	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr11:118392755_118392756delTG	ENST00000534358.1	+	36	11810_11811	c.11787_11788delTG	c.(11785-11790)attgtcfs	p.V3930fs	RP11-770J1.3_ENST00000532597.1_RNA|KMT2A_ENST00000354520.4_Frame_Shift_Del_p.V3889fs|RP11-770J1.3_ENST00000556583.1_RNA|RP11-770J1.3_ENST00000525992.2_RNA|RP11-770J1.3_ENST00000554407.1_RNA|RP11-770J1.3_ENST00000528578.1_RNA|KMT2A_ENST00000389506.5_Frame_Shift_Del_p.V3927fs	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2			lysine (K)-specific methyltransferase 2A																		AGAAGCACATTGTCATCTTTGC	0.490													47	62	---	---	---	---					
MTUS2	23281	broad.mit.edu	37	13	30077186	30077188	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr13:30077186_30077188delAGA	ENST00000431530.3	+	14	4041_4043	c.3983_3985delAGA	c.(3982-3987)gagaag>gag	p.K1330del	MTUS2_ENST00000380808.2_In_Frame_Del_p.K299del|MTUS2_ENST00000542829.1_In_Frame_Del_p.K209del|MTUS2_ENST00000400542.3_3'UTR	NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	1320						cytoplasm|microtubule	microtubule binding|protein homodimerization activity			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						GAAACCCAGGAGAAGAAGAGATT	0.493													7	60	---	---	---	---					
TMC7	79905	broad.mit.edu	37	16	19073098	19073101	+	Splice_Site	DEL	AGGA	AGGA	-			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr16:19073098_19073101delAGGA	ENST00000421369.3	+	16	2334_2336	c.1776_1778delAGGA	c.(1774-1779)ctagga>cta	p.G593fs	TMC7_ENST00000304381.5_Splice_Site_p.G703fs	NM_001160364.1	NP_001153836.1	Q7Z402	TMC7_HUMAN	transmembrane channel-like 7	703						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						ATTATTTTTTAGGAAAGTCGTGAC	0.402													8	8	---	---	---	---					
IGLV3-9	28804	broad.mit.edu	37	22	23161844	23161845	+	RNA	DEL	CC	CC	-	rs72002333		TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr22:23161844_23161845delCC	ENST00000390316.2	+	0	161																											TGCTCATGGTCCCCTGAGGACA	0.554													9	5	---	---	---	---					
