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
HOXD11	3237	broad.mit.edu	37	2	176973838	176973838	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr2:176973838C>A	ENST00000249504.5	+	2	1055	c.985C>A	c.(985-987)Ctg>Atg	p.L329M	HOXD11_ENST00000498438.1_3'UTR|HOXD10_ENST00000490088.2_3'UTR	NM_021192.2	NP_067015.2	P31277	HXD11_HUMAN	homeobox D11	329						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.L329M(1)						OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0521)|READ - Rectum adenocarcinoma(9;0.0678)		CAGAGACCGTCTGCAGTATTT	0.532000			T	NUP98	AML								54	71					1.55088e-19	2.07993e-19	1	1	0
RASGRF2	5924	broad.mit.edu	37	5	80369234	80369234	+	Missense_Mutation	SNP	A	A	G			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr5:80369234A>G	ENST00000265080.4	+	5	917	c.850A>G	c.(850-852)Atc>Gtc	p.I284V	RASGRF2_ENST00000502677.1_3'UTR	NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 2	284	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	protein binding|Rho guanyl-nucleotide exchange factor activity	p.I284V(1)		biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		GAAGCCCCCCATCAGCCACGA	0.483000													4	29					0	0	1	0	0
POU6F2	11281	broad.mit.edu	37	7	39379247	39379247	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr7:39379247C>T	ENST00000518318.2	+	5	560	c.518C>T	c.(517-519)tCa>tTa	p.S173L	POU6F2_ENST00000403058.1_Missense_Mutation_p.S173L|POU6F2_ENST00000559001.1_Missense_Mutation_p.S165L|POU6F2_ENST00000517348.1_3'UTR			P78424	PO6F2_HUMAN	POU class 6 homeobox 2	173	Gln-rich.				central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.S173L(1)		NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						GTAGCTACCTCATCCCTGAAC	0.567000													13	22					0	0	1	0	0
CTC-260E6.6	0	broad.mit.edu	37	19	20370088	20370088	+	RNA	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr19:20370088G>T	ENST00000593655.1	-	0	199																											GACCCATCCCGCAGAAAGCAC	0.413000													5	35					0.000602214	0.000629638	1	1	0
TPTE2P2	644623	broad.mit.edu	37	13	52864001	52864001	+	RNA	SNP	A	A	G			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr13:52864001A>G	ENST00000451298.1	-	0	168				RP11-64P12.8_ENST00000606031.1_RNA																							GAAAAAATAAAGCAATAGCTA	0.313000													3	47					0	0	1	0	0
ABL2	27	broad.mit.edu	37	1	179076967	179076967	+	Silent	SNP	G	G	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr1:179076967G>A	ENST00000502732.1	-	12	3638	c.3435C>T	c.(3433-3435)ctC>ctT	p.L1145L	ABL2_ENST00000504405.1_Silent_p.L1006L|ABL2_ENST00000512653.1_Silent_p.L1130L|ABL2_ENST00000507173.1_Silent_p.L1021L|ABL2_ENST00000367623.4_Silent_p.L1124L|ABL2_ENST00000344730.3_Silent_p.L1027L|ABL2_ENST00000511413.1_Silent_p.L1042L|ABL2_ENST00000408940.3_Silent_p.L1109L	NM_001168236.1|NM_001168237.1|NM_001168238.1|NM_007314.3	NP_001161708.1|NP_001161709.1|NP_001161710.1|NP_009298.1	P42684	ABL2_HUMAN	c-abl oncogene 2, non-receptor tyrosine kinase	1145	F-actin-binding (By similarity).				axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction	cytoskeleton|cytosol	ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding	p.L1145L(1)|p.L1109L(1)		breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	65					Adenosine triphosphate(DB00171)|Dasatinib(DB01254)	CCTGCAGGCTGAGTTCCAGTT	0.507000			T	ETV6	AML								4	46					0	0	1	0	0
PPP2R3B	28227	broad.mit.edu	37	X	308043	308043	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chrX:308043C>A	ENST00000390665.3	-	4	661	c.643G>T	c.(643-645)Gcc>Tcc	p.A215S		NM_013239.4	NP_037371.2	Q9Y5P8	P2R3B_HUMAN	protein phosphatase 2, regulatory subunit B'', beta	215					cell cycle arrest|protein dephosphorylation	nucleus|protein phosphatase type 2A complex	calcium ion binding|protein phosphatase type 2A regulator activity|protein serine/threonine phosphatase activity	p.A215S(1)|p.A215T(1)		endometrium(5)|lung(5)|skin(1)	11		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				ACGAACTTGGCCGCGTCGTCG	0.617000													5	29					0.00116845	0.00121501	1	1	0
CCDC173	129881	broad.mit.edu	37	2	170518803	170518803	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr2:170518803C>A	ENST00000447353.1	-	5	911	c.806G>T	c.(805-807)aGg>aTg	p.R269M		NM_001085447.1	NP_001078916.1			coiled-coil domain containing 173									p.R263M(1)									AAACCGTCTCCTGCTTTCATG	0.313000													251	372					1.68934e-126	3.17928e-126	1	1	0
AP3B2	8120	broad.mit.edu	37	15	83349659	83349659	+	Nonsense_Mutation	SNP	C	C	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr15:83349659C>T	ENST00000261722.3	-	7	908	c.701G>A	c.(700-702)tGg>tAg	p.W234*	AP3B2_ENST00000535348.1_Nonsense_Mutation_p.W202*|AP3B2_ENST00000535359.1_Nonsense_Mutation_p.W234*|RP11-752G15.3_ENST00000560650.1_RNA	NM_004644.3	NP_004635.2	Q13367	AP3B2_HUMAN	adaptor-related protein complex 3, beta 2 subunit	234					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport	clathrin coated vesicle membrane|COPI-coated vesicle|membrane coat	binding|protein transporter activity	p.W234*(1)		breast(4)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(2)	41			BRCA - Breast invasive adenocarcinoma(143;0.229)			CACCTGGCCCCACTCCTCCAC	0.612000													5	28					0	0	1	0	0
AKAP11	11215	broad.mit.edu	37	13	42891710	42891710	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr13:42891710G>A	ENST00000025301.2	+	12	5626	c.5451G>A	c.(5449-5451)atG>atA	p.M1817I		NM_016248.3	NP_057332.1	Q9UKA4	AKA11_HUMAN	A kinase (PRKA) anchor protein 11	1817					intracellular protein kinase cascade	microtubule organizing center	protein kinase A binding|protein phosphatase 1 binding	p.M1817I(1)		breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2)	56		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)		ATATTGACATGGAGCCATGCA	0.373000													8	155					0	0	1	0	0
NLRP3	114548	broad.mit.edu	37	1	247597423	247597423	+	Silent	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr1:247597423C>A	ENST00000366497.2	+	6	3126	c.2346C>A	c.(2344-2346)ctC>ctA	p.L782L	NLRP3_ENST00000391827.2_Silent_p.L725L|NLRP3_ENST00000391828.3_Silent_p.L782L|NLRP3_ENST00000366496.2_Silent_p.L782L|NLRP3_ENST00000348069.2_Silent_p.L725L|NLRP3_ENST00000336119.3_Silent_p.L782L	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	839					detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding	p.L782L(1)		NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			GCTGTGGCCTCTCGCATGAGT	0.562000													73	200					6.79372e-55	1.19254e-54	1	1	0
PIWIL1	9271	broad.mit.edu	37	12	130839524	130839524	+	Silent	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr12:130839524G>T	ENST00000245255.3	+	11	1535	c.1263G>T	c.(1261-1263)gtG>gtT	p.V421V		NM_001190971.1|NM_004764.4	NP_001177900.1|NP_004755.2	Q96J94	PIWL1_HUMAN	piwi-like RNA-mediated gene silencing 1	421					gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development	chromatoid body|P granule	mRNA binding|piRNA binding|protein binding	p.V421V(2)		breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		AGCGTGAAGTGGGACGACTCA	0.378000													156	275					9.2415e-74	1.68401e-73	1	1	0
GPR125	166647	broad.mit.edu	37	4	22422541	22422541	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr4:22422541C>A	ENST00000334304.5	-	12	2046	c.1777G>T	c.(1777-1779)Gtt>Ttt	p.V593F	GPR125_ENST00000502482.1_Missense_Mutation_p.V593F|GPR125_ENST00000508133.1_Missense_Mutation_p.V367F|GPR125_ENST00000282943.5_5'UTR	NM_145290.2	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	593					neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity	p.V593F(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				GTATTTGAAACATTGCACTTA	0.413000													93	420					8.58103e-55	1.50168e-54	1	1	0
CNTLN	54875	broad.mit.edu	37	9	17298192	17298192	+	Missense_Mutation	SNP	G	G	C			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr9:17298192G>C	ENST00000380647.3	+	7	1072	c.988G>C	c.(988-990)Gaa>Caa	p.E330Q	CNTLN_ENST00000380641.4_Missense_Mutation_p.E330Q|CNTLN_ENST00000262360.5_Splice_Site_p.E330_splice|CNTLN_ENST00000425824.1_Splice_Site_p.E330_splice			Q9NXG0	CNTLN_HUMAN	centlein, centrosomal protein	330						centriole|membrane	two-component sensor activity	p.E330Q(1)		breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53				GBM - Glioblastoma multiforme(50;6.14e-10)		GCACAGGAAGGAACTGCAGGA	0.408000													37	41					0	0	1	0	0
DLGAP1	9229	broad.mit.edu	37	18	3742422	3742422	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr18:3742422G>T	ENST00000315677.3	-	6	1858	c.1263C>A	c.(1261-1263)gaC>gaA	p.D421E	DLGAP1_ENST00000534970.1_Missense_Mutation_p.D133E|DLGAP1_ENST00000581699.1_Missense_Mutation_p.D127E|DLGAP1_ENST00000400145.2_Missense_Mutation_p.D119E|DLGAP1_ENST00000400149.3_Missense_Mutation_p.D129E|DLGAP1_ENST00000581527.1_Missense_Mutation_p.D421E|DLGAP1_ENST00000478161.1_5'UTR|DLGAP1_ENST00000515196.2_Missense_Mutation_p.D421E|DLGAP1_ENST00000400155.1_Missense_Mutation_p.D127E|DLGAP1_ENST00000400150.3_Missense_Mutation_p.D127E|DLGAP1_ENST00000539435.1_Missense_Mutation_p.D119E|DLGAP1_ENST00000400147.2_Missense_Mutation_p.D119E|DLGAP1_ENST00000584874.1_Missense_Mutation_p.D421E	NM_004746.3	NP_004737.2	O14490	DLGP1_HUMAN	discs, large (Drosophila) homolog-associated protein 1	421					synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane		p.D421E(1)|p.D119E(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56		Colorectal(8;0.0257)				GGTCCAGGCTGTCCAGGCTCC	0.557000													4	8					5.18039e-06	5.66389e-06	1	1	0
HECTD4	283450	broad.mit.edu	37	12	112744003	112744003	+	Silent	SNP	G	G	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr12:112744003G>A	ENST00000550722.1	-	7	1163	c.768C>T	c.(766-768)ctC>ctT	p.L256L	HECTD4_ENST00000377560.5_Silent_p.L256L|HECTD4_ENST00000430131.2_Silent_p.L6L	NM_001109662.3	NP_001103132.3			HECT domain containing E3 ubiquitin protein ligase 4									p.L256L(1)|p.L6L(1)									TGCCAATGGGGAGGTGATTGG	0.498000													28	30					0	0	1	0	0
FAM179B	23116	broad.mit.edu	37	14	45513851	45513851	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr14:45513851G>T	ENST00000361462.2	+	13	4115	c.3932G>T	c.(3931-3933)cGt>cTt	p.R1311L	FAM179B_ENST00000361577.3_Missense_Mutation_p.R1311L|FAM179B_ENST00000382233.2_3'UTR			Q9Y4F4	F179B_HUMAN	family with sequence similarity 179, member B	1311							binding	p.R1311L(1)		endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						AAAAATTTACGTTCTGGAGTT	0.308000													15	26					3.41278e-10	4.00601e-10	1	1	0
NLRP12	91662	broad.mit.edu	37	19	54314478	54314478	+	Silent	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr19:54314478C>A	ENST00000324134.6	-	3	603	c.435G>T	c.(433-435)gcG>gcT	p.A145A	NLRP12_ENST00000391775.3_Silent_p.A145A|NLRP12_ENST00000391772.1_Silent_p.A145A|NLRP12_ENST00000535162.1_Silent_p.A145A|NLRP12_ENST00000351894.4_Silent_p.A145A|NLRP12_ENST00000354278.3_Silent_p.A145A|NLRP12_ENST00000345770.5_Silent_p.A145A|NLRP12_ENST00000391773.1_Silent_p.A145A	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	145					negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding	p.A145A(1)		NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		CCCCTAGGCGCGCATTGCGGT	0.567000													30	67					2.6416e-12	3.233e-12	1	1	0
TSPAN7	7102	broad.mit.edu	37	X	38525426	38525426	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chrX:38525426G>T	ENST00000378482.2	+	2	310	c.133G>T	c.(133-135)Ggc>Tgc	p.G45C	TSPAN7_ENST00000545599.1_Missense_Mutation_p.G19C|TSPAN7_ENST00000422612.2_Missense_Mutation_p.G71C|TSPAN7_ENST00000286824.6_Missense_Mutation_p.G62C|TSPAN7_ENST00000488893.1_3'UTR|TM4SF2_ENST00000465127.1_Missense_Mutation_p.G75C	NM_004615.3	NP_004606.2	P41732	TSN7_HUMAN	tetraspanin 7	45					interspecies interaction between organisms	integral to plasma membrane		p.G45C(1)|p.G40C(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	11						ACTTACTCTGGGCACCTATAT	0.502000													47	37					1.67211e-32	2.56628e-32	1	1	0
NLGN3	54413	broad.mit.edu	37	X	70375185	70375185	+	Silent	SNP	C	C	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chrX:70375185C>T	ENST00000374051.3	+	4	961	c.639C>T	c.(637-639)atC>atT	p.I213I	NLGN3_ENST00000536169.1_Silent_p.I193I|NLGN3_ENST00000358741.3_Silent_p.I233I|NLGN3_ENST00000476589.1_3'UTR	NM_018977.3	NP_061850.2	Q9NZ94	NLGN3_HUMAN	neuroligin 3	233					neuron cell-cell adhesion|positive regulation of synaptogenesis|receptor-mediated endocytosis|social behavior|synapse assembly	cell surface|endocytic vesicle|integral to plasma membrane|synapse	neurexin binding|receptor activity	p.I233I(1)|p.I213I(1)		biliary_tract(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	37	Renal(35;0.156)					TCATCGTCATCACCCTCAACT	0.532000													44	196					0	0	1	0	0
LYST	1130	broad.mit.edu	37	1	235909776	235909776	+	Missense_Mutation	SNP	C	C	T	rs147536126	byFrequency	TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr1:235909776C>T	ENST00000389794.3	-	29	8006	c.7832G>A	c.(7831-7833)cGt>cAt	p.R2611H	LYST_ENST00000389793.2_Missense_Mutation_p.R2611H			Q99698	LYST_HUMAN	lysosomal trafficking regulator	2611					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding	p.R2611H(1)		NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			TGCCACTGAACGCATTTTCAT	0.408000													35	42					0	0	1	0	0
ZNF208	7757	broad.mit.edu	37	19	22157153	22157153	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr19:22157153G>T	ENST00000397126.4	-	4	831	c.683C>A	c.(682-684)cCc>cAc	p.P228H	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	NM_007153.3	NP_009084.2			zinc finger protein 208									p.P228H(3)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				ACATCTGTAGGGTTTCTCTCC	0.363000													62	67					9.12251e-31	1.37436e-30	1	1	0
GUCY1A3	2982	broad.mit.edu	37	4	156631723	156631723	+	Missense_Mutation	SNP	C	C	G			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr4:156631723C>G	ENST00000296518.7	+	6	615	c.406C>G	c.(406-408)Ctt>Gtt	p.L136V	GUCY1A3_ENST00000506455.1_Missense_Mutation_p.L136V|GUCY1A3_ENST00000515602.1_3'UTR|GUCY1A3_ENST00000513574.1_Missense_Mutation_p.L136V|GUCY1A3_ENST00000393832.3_5'UTR|GUCY1A3_ENST00000511507.1_Missense_Mutation_p.L136V|GUCY1A3_ENST00000511108.1_Missense_Mutation_p.L136V|GUCY1A3_ENST00000455639.2_Missense_Mutation_p.L136V			Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3	136				VIKESLGEEVFKICYEEDENILGVVGGTLKDFLNSFSTLLK QSSHCQEAGKRGR -> LSKNLLVKRFLKYVTRKMKTSLGW LEAPLKIFKQLQYPSETEQPLPRSRKKGQ (in Ref. 1).	blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity	p.L136V(1)		central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		CAAAGAATCTCTTGGTGAAGA	0.388000													4	83					0	0	1	0	0
LRRTM3	347731	broad.mit.edu	37	10	68857382	68857382	+	Missense_Mutation	SNP	A	A	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr10:68857382A>T	ENST00000361320.4	+	3	2152	c.1574A>T	c.(1573-1575)tAc>tTc	p.Y525F	CTNNA3_ENST00000373744.4_Intron|CTNNA3_ENST00000494580.1_Intron|CTNNA3_ENST00000433211.1_Intron|LRRTM3_ENST00000485868.1_3'UTR	NM_178011.3	NP_821079.3	Q86VH5	LRRT3_HUMAN	leucine rich repeat transmembrane neuronal 3	525						integral to membrane		p.Y525F(2)		breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	41						TTTCTGGCATACGACCAGCCC	0.398000													42	226					0	0	1	0	0
PRSS42	339906	broad.mit.edu	37	3	46873408	46873408	+	Silent	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr3:46873408C>A	ENST00000429665.1	-	4	749	c.750G>T	c.(748-750)ggG>ggT	p.G250G	PRSS42_ENST00000447340.1_Intron	NM_182702.1	NP_874361.1	Q7Z5A4	PRS42_HUMAN	protease, serine, 42	250	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity	p.G250G(1)		breast(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)	8						CACAGACCATCCCTTTTATTA	0.383000													43	26					1.47857e-17	1.94211e-17	1	1	0
NOP14	8602	broad.mit.edu	37	4	2954074	2954074	+	Silent	SNP	C	C	T	rs149472162	byFrequency	TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr4:2954074C>T	ENST00000416614.2	-	6	863	c.798G>A	c.(796-798)gcG>gcA	p.A266A	NOP14-AS1_ENST00000503709.1_RNA|NOP14_ENST00000398071.4_Silent_p.A266A|NOP14_ENST00000314262.6_Silent_p.A266A|NOP14_ENST00000502735.1_Silent_p.A266A			P78316	NOP14_HUMAN	NOP14 nucleolar protein	266					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	mitochondrion|Noc4p-Nop14p complex|small-subunit processome	snoRNA binding	p.A266A(1)		NS(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(12)|pancreas(1)|skin(1)|urinary_tract(1)	30						TAGAGGGCTGCGCCTTCATTT	0.468000													3	35					0	0	1	0	0
ITIH5	80760	broad.mit.edu	37	10	7659106	7659106	+	Silent	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr10:7659106G>T	ENST00000256861.6	-	6	870	c.792C>A	c.(790-792)gtC>gtA	p.V264V	ITIH5_ENST00000397145.2_Silent_p.V264V|ITIH5_ENST00000298441.6_Silent_p.V50V|ITIH5_ENST00000397146.2_Silent_p.V264V|ITIH5_ENST00000446830.2_Silent_p.V46V|ITIH5_ENST00000434980.1_5'UTR	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	264					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	p.V264V(2)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						GTTCTCTATTGACGTCATATC	0.403000													131	331					8.9487e-115	1.67315e-114	1	1	0
CSMD3	114788	broad.mit.edu	37	8	113392679	113392679	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr8:113392679G>T	ENST00000297405.5	-	38	6282	c.6038C>A	c.(6037-6039)aCa>aAa	p.T2013K	CSMD3_ENST00000455883.2_Missense_Mutation_p.T1909K|CSMD3_ENST00000343508.3_Missense_Mutation_p.T1973K|CSMD3_ENST00000352409.3_Missense_Mutation_p.T1943K	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2013	CUB 11.					integral to membrane|plasma membrane		p.T1973K(1)|p.T2013K(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ATGGGGTATTGTTGTTCCTGA	0.318000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			46	101					7.91745e-34	1.23831e-33	1	1	0
IGLV6-57	28778	broad.mit.edu	37	22	22550673	22550673	+	RNA	SNP	A	A	C			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr22:22550673A>C	ENST00000390285.2	+	0	436																											GATAGCAGCAATCACACAGTG	0.557000													37	72					0	0	1	0	0
EDIL3	10085	broad.mit.edu	37	5	83402547	83402547	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr5:83402547G>T	ENST00000296591.5	-	6	989	c.571C>A	c.(571-573)Ccc>Acc	p.P191T	EDIL3_ENST00000380138.3_Missense_Mutation_p.P181T	NM_005711.3	NP_005702.3	O43854	EDIL3_HUMAN	EGF-like repeats and discoidin I-like domains 3	191	F5/8 type C 1.				cell adhesion|multicellular organismal development	extracellular region	calcium ion binding|integrin binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(5)|skin(3)	31		Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425)		OV - Ovarian serous cystadenocarcinoma(54;4.3e-40)|Epithelial(54;4.79e-32)|all cancers(79;1.54e-26)		GCATAGTAGGGATACCATTTT	0.458000													48	139					1.00776e-21	1.40401e-21	1	1	0
PHACTR4	65979	broad.mit.edu	37	1	28807101	28807101	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr1:28807101G>A	ENST00000373839.3	+	9	2006	c.1745G>A	c.(1744-1746)gGa>gAa	p.G582E	PHACTR4_ENST00000373836.3_Missense_Mutation_p.G592E|PHACTR4_ENST00000493669.1_3'UTR	NM_001048183.1	NP_001041648.1	Q8IZ21	PHAR4_HUMAN	phosphatase and actin regulator 4	582							actin binding|protein phosphatase inhibitor activity	p.G592E(1)		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)		CACCAGATTGGAAACACACTG	0.413000													69	258					0	0	1	0	0
PVR	5817	broad.mit.edu	37	19	45162189	45162189	+	Missense_Mutation	SNP	C	C	A	rs35385129	by1000genomes	TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr19:45162189C>A	ENST00000406449.4	+	6	1171	c.1171C>A	c.(1171-1173)Cgt>Agt	p.R391S	PVR_ENST00000425690.3_Intron|PVR_ENST00000403059.4_Intron|PVR_ENST00000344956.4_Intron|CTB-171A8.1_ENST00000590796.1_RNA	NM_001135770.1	NP_001129242.1	P15151	PVR_HUMAN	poliovirus receptor	0					adherens junction organization|cell adhesion|cell junction assembly|interspecies interaction between organisms|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|susceptibility to natural killer cell mediated cytotoxicity|susceptibility to T cell mediated cytotoxicity	cell junction|cell surface|cytoplasm|extracellular space|integral to membrane|nucleus	cell adhesion molecule binding|receptor activity			large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	6	Lung NSC(12;0.00608)|all_lung(12;0.0148)	Medulloblastoma(540;0.0425)|Ovarian(192;0.0728)|Prostate(69;0.081)|all_neural(266;0.112)		Epithelial(262;0.000601)		CCagagctgccgtaattgagc	0.532000													6	40					8.12818e-05	8.65599e-05	1	1	0
PIGN	23556	broad.mit.edu	37	18	59749964	59749964	+	Missense_Mutation	SNP	C	C	G			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr18:59749964C>G	ENST00000357637.5	-	28	2933	c.2518G>C	c.(2518-2520)Gtt>Ctt	p.V840L	PIGN_ENST00000400334.3_Missense_Mutation_p.V840L	NM_176787.4	NP_789744.1	O95427	PIGN_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class N	840					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	phosphotransferase activity, for other substituted phosphate groups	p.V840L(1)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22		Colorectal(73;0.187)				ATAACAAGAACAAAGGGGATT	0.299000													10	13					0	0	1	0	0
IFI16	3428	broad.mit.edu	37	1	159021844	159021844	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr1:159021844C>A	ENST00000295809.7	+	10	2296	c.2041C>A	c.(2041-2043)Caa>Aaa	p.Q681K	IFI16_ENST00000368131.4_Missense_Mutation_p.Q625K|IFI16_ENST00000359709.3_Missense_Mutation_p.Q625K|IFI16_ENST00000340979.6_Missense_Mutation_p.Q569K|IFI16_ENST00000430894.2_Missense_Mutation_p.Q629K|IFI16_ENST00000368132.3_Missense_Mutation_p.Q625K|IFI16_ENST00000448393.2_Missense_Mutation_p.Q569K			Q16666	IF16_HUMAN	interferon, gamma-inducible protein 16	681	HIN-200 2.				cell proliferation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|monocyte differentiation|negative regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	cytoplasm|nuclear speck|nucleolus	double-stranded DNA binding|protein binding	p.Q625K(1)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0429)					GCTTTGCTCACAAACTAAAGG	0.398000													4	28					1.23904e-05	1.3419e-05	1	1	0
PCDHB16	57717	broad.mit.edu	37	5	140563163	140563163	+	Silent	SNP	T	T	C			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr5:140563163T>C	ENST00000361016.2	+	1	2184	c.1029T>C	c.(1027-1029)aaT>aaC	p.N343N		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN		343	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	p.N343N(1)		breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGAATGACAATCCCCCACAGG	0.517000													24	72					0	0	1	0	0
CYP4F3	4051	broad.mit.edu	37	19	15770046	15770046	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr19:15770046G>A	ENST00000221307.7	+	13	1462	c.1414G>A	c.(1414-1416)Gcg>Acg	p.A472T	CYP4F3_ENST00000591058.1_Missense_Mutation_p.A472T|CYP4F3_ENST00000585846.1_Missense_Mutation_p.A472T|CYP4F3_ENST00000586182.1_Missense_Mutation_p.A472T	NM_000896.2	NP_000887.2	Q08477	CP4F3_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 3	472					leukotriene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding			endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1)	34						CATCGGGCAGGCGTTCGCGAT	0.672000													5	49					0	0	1	0	0
TAS2R9	50835	broad.mit.edu	37	12	10962482	10962482	+	Missense_Mutation	SNP	C	C	G			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr12:10962482C>G	ENST00000240691.2	-	1	285	c.193G>C	c.(193-195)Gat>Cat	p.D65H		NM_023917.2	NP_076406.1	Q9NYW1	TA2R9_HUMAN	taste receptor, type 2, member 9	65					sensory perception of taste	integral to membrane	taste receptor activity	p.D65H(1)		endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						AAGAAGCCATCTAATGATATT	0.413000													145	210					0	0	1	0	0
OR2AG1	144125	broad.mit.edu	37	11	6807144	6807144	+	Silent	SNP	G	G	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr11:6807144G>A	ENST00000307401.4	+	1	897	c.876G>A	c.(874-876)ctG>ctA	p.L292L		NM_001004489.2	NP_001004489.1	Q9H205	O2AG1_HUMAN	olfactory receptor, family 2, subfamily AG, member 1	292					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L292L(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(13)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)		Epithelial(150;2.19e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		TCTACAGCCTGAGGAATAAGG	0.512000													5	109					0	0	1	0	0
TRBV5-6	28609	broad.mit.edu	37	7	142131907	142131907	+	RNA	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr7:142131907G>T	ENST00000390375.2	-	0	11																											CACTGCATCTGATTCAGGGCT	0.592000													13	20					2.23348e-06	2.46542e-06	1	1	0
SEC16B	89866	broad.mit.edu	37	1	177901902	177901902	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr1:177901902C>A	ENST00000308284.6	-	23	2952	c.2863G>T	c.(2863-2865)Ggc>Tgc	p.G955C	SEC16B_ENST00000495165.1_5'UTR|RP4-798P15.3_ENST00000528461.1_3'UTR|RP4-798P15.3_ENST00000354921.2_5'UTR	NM_033127.2	NP_149118.2	Q96JE7	SC16B_HUMAN	SEC16 homolog B (S. cerevisiae)	955					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane		p.G956C(1)		central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						AGTGAGAGGCCCAGGCCAGCC	0.587000													19	13					2.52088e-20	3.43702e-20	1	1	0
NODAL	4838	broad.mit.edu	37	10	72195389	72195389	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr10:72195389G>T	ENST00000287139.3	-	2	543	c.544C>A	c.(544-546)Ccg>Acg	p.P182T	AC022532.1_ENST00000420338.2_Silent_p.R112R	NM_018055.4	NP_060525.3	Q96S42	NODAL_HUMAN	nodal growth differentiation factor	182					growth	extracellular space	cytokine activity|growth factor activity	p.P182T(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(2)	15						GGGGGCCGCGGCCAGCACTCT	0.637000													7	3					5.68852e-11	6.7743e-11	1	1	0
IGKV1-5	28299	broad.mit.edu	37	2	89247033	89247033	+	RNA	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr2:89247033C>A	ENST00000496168.1	-	0	317																											CTGACTGGCCCGGCAAGTGAT	0.498000													43	107					1.64573e-32	2.53258e-32	1	1	0
ADAMTS1	9510	broad.mit.edu	37	21	28212677	28212677	+	Nonsense_Mutation	SNP	C	C	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr21:28212677C>T	ENST00000284984.2	-	5	2037	c.1583G>A	c.(1582-1584)tGg>tAg	p.W528*		NM_006988.3	NP_008919.3	Q9UHI8	ATS1_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 1	528	Disintegrin.				integrin-mediated signaling pathway|negative regulation of cell proliferation|proteolysis		heparin binding|zinc ion binding	p.W528*(1)		central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(20)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	42		Breast(209;0.000962)		Lung(58;0.215)		GCCATCCGCCCACGGGAAGTG	0.522000													58	53					0	0	1	0	0
KRTAP10-9	386676	broad.mit.edu	37	21	46047579	46047579	+	Missense_Mutation	SNP	A	A	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr21:46047579A>T	ENST00000397911.3	+	1	540	c.491A>T	c.(490-492)cAa>cTa	p.Q164L	TSPEAR_ENST00000323084.4_Intron|KRTAP10-9_ENST00000484861.1_Intron	NM_198690.2	NP_941963.2	P60411	KR109_HUMAN	keratin associated protein 10-9	164	25 X 5 AA repeats of C-C-X(3).					keratin filament		p.Q164L(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(6)	9						TCATGCTGCCAACAGTCTAGC	0.602000													57	245					0	0	1	0	0
THUMPD2	80745	broad.mit.edu	37	2	39997215	39997215	+	Nonsense_Mutation	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr2:39997215C>A	ENST00000505747.1	-	3	334	c.307G>T	c.(307-309)Gga>Tga	p.G103*	THUMPD2_ENST00000260619.6_Nonsense_Mutation_p.G73*|THUMPD2_ENST00000454352.2_Nonsense_Mutation_p.G73*|THUMPD2_ENST00000403537.3_5'UTR	NM_025264.4	NP_079540.2	Q9BTF0	THUM2_HUMAN	THUMP domain containing 2	103							methyltransferase activity	p.G73*(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|skin(1)	17		all_hematologic(82;0.248)				AACCAACTTCCTGGATCTTCA	0.289000													6	18					0.00448238	0.00463583	1	1	0
TMPRSS15	5651	broad.mit.edu	37	21	19687505	19687505	+	Missense_Mutation	SNP	C	C	A	rs139992374		TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr21:19687505C>A	ENST00000284885.3	-	17	2023	c.1990G>T	c.(1990-1992)Ggt>Tgt	p.G664C		NM_002772.2	NP_002763.2	P98073	ENTK_HUMAN	transmembrane protease, serine 15	664	LDL-receptor class A 2.				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity	p.G664C(1)		NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						TGCAGATGACCGTCACAGAGA	0.398000													128	232					6.32167e-57	1.11995e-56	1	1	0
ESYT2	57488	broad.mit.edu	37	7	158529746	158529746	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr7:158529746C>A	ENST00000251527.5	-	19	2538	c.2473G>T	c.(2473-2475)Gat>Tat	p.D825Y	ESYT2_ENST00000435514.2_Missense_Mutation_p.D260Y	NM_020728.2	NP_065779.1	A0FGR8	ESYT2_HUMAN	extended synaptotagmin-like protein 2	853	C2 3.					integral to membrane|plasma membrane		p.D825Y(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(16)|prostate(2)	32						TACCTTTGATCAAACACTGGA	0.463000													65	315					3.25985e-27	4.78556e-27	1	1	0
PHLPP1	23239	broad.mit.edu	37	18	60646229	60646229	+	Silent	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr18:60646229G>T	ENST00000400316.4	+	17	4964	c.3183G>T	c.(3181-3183)cgG>cgT	p.R1061R	PHLPP1_ENST00000262719.5_Silent_p.R1573R	NM_194449.3	NP_919431.2	O60346	PHLP1_HUMAN	PH domain and leucine rich repeat protein phosphatase 1	1573					apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	cytosol|membrane|nucleus	metal ion binding|protein serine/threonine phosphatase activity	p.R1573R(2)|p.R1060R(1)		endometrium(2)|kidney(2)|lung(13)	17						ACTGCAGCCGGGCCAAGGAGA	0.617000													27	27					1.15183e-24	1.65702e-24	1	1	0
MUC17	140453	broad.mit.edu	37	7	100682038	100682038	+	Silent	SNP	A	A	G	rs142442389	byFrequency	TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr7:100682038A>G	ENST00000306151.4	+	3	7405	c.7341A>G	c.(7339-7341)ccA>ccG	p.P2447P		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2447	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	p.P2447P(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CCAGCATACCAACCTCACCTC	0.537000													14	505					0	0	1	0	0
SBSPON	157869	broad.mit.edu	37	8	73993266	73993266	+	Missense_Mutation	SNP	C	C	G			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr8:73993266C>G	ENST00000297354.6	-	2	601	c.397G>C	c.(397-399)Ggg>Cgg	p.G133R	SBSPON_ENST00000519697.1_5'UTR	NM_153225.3	NP_694957.3	Q8IVN8	RPESP_HUMAN	somatomedin B and thrombospondin, type 1 domain containing	133					immune response	extracellular region	polysaccharide binding|scavenger receptor activity	p.G128W(1)|p.G128R(1)									TAGGTGTGCCCGCAGTCCTGG	0.582000													18	260					0	0	1	0	0
PPP1R9A	55607	broad.mit.edu	37	7	94540239	94540239	+	Missense_Mutation	SNP	C	C	T	rs140508899		TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr7:94540239C>T	ENST00000289495.5	+	1	1030	c.814C>T	c.(814-816)Cac>Tac	p.H272Y	PPP1R9A_ENST00000456331.2_Missense_Mutation_p.H272Y|PPP1R9A_ENST00000433881.1_Missense_Mutation_p.H272Y|PPP1R9A_ENST00000433360.1_Missense_Mutation_p.H272Y|PPP1R9A_ENST00000424654.1_Missense_Mutation_p.H272Y|PPP1R9A_ENST00000340694.4_Missense_Mutation_p.H272Y	NM_001166161.1	NP_001159633.1	Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A	272						cell junction|synapse|synaptosome	actin binding	p.H272Y(2)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			AGAGGATGCTCACAAGAGTAA	0.458000										HNSCC(28;0.073)			34	38					0	0	1	0	0
CRYBA4	1413	broad.mit.edu	37	22	27019232	27019232	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr22:27019232G>T	ENST00000354760.3	+	3	109	c.74G>T	c.(73-75)cGg>cTg	p.R25L	CRYBA4_ENST00000466315.1_Intron	NM_001886.2	NP_001877.1	P53673	CRBA4_HUMAN	crystallin, beta A4	25	Beta/gamma crystallin 'Greek key' 1.				camera-type eye development|visual perception	soluble fraction	structural constituent of eye lens	p.R25L(1)		large_intestine(6)|liver(1)|lung(6)|skin(3)|urinary_tract(2)	18						TTCCAGGGCCGGCGGCACGAG	0.602000													14	69					2.21704e-12	2.71918e-12	1	1	0
PER2	8864	broad.mit.edu	37	2	239157729	239157729	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr2:239157729C>A	ENST00000254657.3	-	22	3871	c.3592G>T	c.(3592-3594)Ggc>Tgc	p.G1198C	AC096574.4_ENST00000456601.1_RNA|PER2_ENST00000254658.3_3'UTR	NM_022817.2	NP_073728.1	O15055	PER2_HUMAN	period circadian clock 2	1198	CRY binding domain (By similarity).				circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|signal transducer activity	p.G1198F(1)		NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)		GCGGGCAGGCCGCCCGTCTGC	0.577000													18	58					1.61572e-30	2.42148e-30	1	1	0
LINC00639	283547	broad.mit.edu	37	14	39305004	39305004	+	RNA	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr14:39305004G>T	ENST00000553932.1	-	0	3558																											GACTGACGCTGTTGGCCTTCA	0.602000													16	4					4.96729e-08	5.64599e-08	1	1	0
GPR26	2849	broad.mit.edu	37	10	125447575	125447575	+	Missense_Mutation	SNP	T	T	G			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr10:125447575T>G	ENST00000284674.1	+	3	966	c.913T>G	c.(913-915)Tgc>Ggc	p.C305G		NM_153442.3	NP_703143.1	Q8NDV2	GPR26_HUMAN	G protein-coupled receptor 26	305					activation of adenylate cyclase activity by G-protein signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.C305G(1)		breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	20		Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)				CCGCAAAAGCTGCAAGGAGAT	0.592000													4	32					0	0	1	0	0
NLGN3	54413	broad.mit.edu	37	X	70375176	70375176	+	Silent	SNP	C	C	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chrX:70375176C>T	ENST00000374051.3	+	4	952	c.630C>T	c.(628-630)gtC>gtT	p.V210V	NLGN3_ENST00000536169.1_Silent_p.V190V|NLGN3_ENST00000358741.3_Silent_p.V230V|NLGN3_ENST00000476589.1_3'UTR	NM_018977.3	NP_061850.2	Q9NZ94	NLGN3_HUMAN	neuroligin 3	230					neuron cell-cell adhesion|positive regulation of synaptogenesis|receptor-mediated endocytosis|social behavior|synapse assembly	cell surface|endocytic vesicle|integral to plasma membrane|synapse	neurexin binding|receptor activity	p.V230V(1)|p.V210V(1)		biliary_tract(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	37	Renal(35;0.156)					ATGGCAATGTCATCGTCATCA	0.542000													36	199					0	0	1	0	0
ACTN2	88	broad.mit.edu	37	1	236882306	236882306	+	Silent	SNP	C	C	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr1:236882306C>T	ENST00000366578.4	+	3	520	c.354C>T	c.(352-354)ggC>ggT	p.G118G	ACTN2_ENST00000492634.1_3'UTR|ACTN2_ENST00000542672.1_Silent_p.G118G	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	118	Actin-binding.|CH 1.				focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding	p.G118G(1)		endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			TGTCCATTGGCGCTGAAGGTG	0.512000													14	22					0	0	1	0	0
PIEZO2	63895	broad.mit.edu	37	18	10672688	10672688	+	Splice_Site	SNP	C	C	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr18:10672688C>T	ENST00000302079.6	-	50	7815	c.7817_splice	c.e50+1	p.G2606_splice	PIEZO2_ENST00000538948.1_Splice_Site_p.G626_splice|PIEZO2_ENST00000503781.3_Splice_Site_p.G2669_splice|PIEZO2_ENST00000581680.1_5'UTR|PIEZO2_ENST00000285141.4_Splice_Site_p.G461_splice|PIEZO2_ENST00000580640.1_Splice_Site_p.G2694_splice			Q9H5I5	PIEZ2_HUMAN	piezo-type mechanosensitive ion channel component 2	2669						integral to membrane	ion channel activity	p.G461S(1)|p.G2669S(1)									AGTCCTTACCCATAGCCAGCC	0.438000													8	127					0	0	1	0	0
FAM47A	158724	broad.mit.edu	37	X	34148608	34148608	+	Silent	SNP	A	A	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chrX:34148608A>T	ENST00000346193.3	-	1	1839	c.1788T>A	c.(1786-1788)tcT>tcA	p.S596S		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	596								p.S596S(1)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						GAAGAGAGTCAGAAACGCACT	0.453000													7	75					0	0	1	0	0
FRMPD4	9758	broad.mit.edu	37	X	12735148	12735148	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chrX:12735148C>A	ENST00000380682.1	+	15	3076	c.2570C>A	c.(2569-2571)gCc>gAc	p.A857D		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	857					positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding	p.A847D(1)		breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						CCCACCAGCGCCGAAGGCAAG	0.572000													76	63					5.64992e-62	1.0103e-61	1	1	0
ZNF157	7712	broad.mit.edu	37	X	47271905	47271905	+	Nonsense_Mutation	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chrX:47271905G>T	ENST00000377073.3	+	4	519	c.433G>T	c.(433-435)Gag>Tag	p.E145*		NM_003446.3	NP_003437.2	P51786	ZN157_HUMAN	zinc finger protein 157	145					negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.E145*(1)		central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	11						AGCCTTCCATGAGAAAACAGG	0.388000													109	75					6.95862e-65	1.26001e-64	1	1	0
LRRC37A3	374819	broad.mit.edu	37	17	62856639	62856639	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr17:62856639G>T	ENST00000584306.1	-	11	4155	c.3625C>A	c.(3625-3627)Cca>Aca	p.P1209T	LRRC37A3_ENST00000319651.5_Missense_Mutation_p.P1209T|LRRC37A3_ENST00000334962.5_Missense_Mutation_p.P186T|LRRC37A3_ENST00000339474.5_Missense_Mutation_p.P327T|LRRC37A3_ENST00000400877.3_Missense_Mutation_p.P247T	NM_199340.2	NP_955372.2	O60309	L37A3_HUMAN	leucine rich repeat containing 37, member A3	1209						integral to membrane		p.P1209T(1)		NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|liver(1)|lung(10)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						CTTGGGGCTGGACTTCCGAGC	0.552000													26	14					3.76114e-14	4.70347e-14	1	1	0
ZNF560	147741	broad.mit.edu	37	19	9578658	9578658	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr19:9578658C>A	ENST00000301480.4	-	10	1178	c.965G>T	c.(964-966)tGg>tTg	p.W322L		NM_152476.2	NP_689689.2	Q96MR9	ZN560_HUMAN	zinc finger protein 560	322					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.W322L(1)		NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						ACATTGCTTCCATTCATTGAG	0.388000													80	33					6.64032e-35	1.05583e-34	1	1	0
TRAPPC12	51112	broad.mit.edu	37	2	3405596	3405596	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr2:3405596G>T	ENST00000324266.5	+	3	1291	c.1096G>T	c.(1096-1098)Gca>Tca	p.A366S	TRAPPC12_ENST00000382110.2_Missense_Mutation_p.A366S	NM_016030.5	NP_057114.5	Q8WVT3	TTC15_HUMAN	trafficking protein particle complex 12	366							binding	p.A366S(1)									TGAAAAAGCTGCAGCAAAGAG	0.378000													67	125					3.20846e-33	4.97746e-33	1	1	0
ARHGAP32	9743	broad.mit.edu	37	11	128839021	128839021	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr11:128839021G>T	ENST00000310343.9	-	22	6044	c.6045C>A	c.(6043-6045)agC>agA	p.S2015R	ARHGAP32_ENST00000392657.3_Missense_Mutation_p.S1666R|ARHGAP32_ENST00000524655.1_3'UTR|ARHGAP32_ENST00000527272.1_Missense_Mutation_p.S1666R	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	2015	Interaction with FYN.				cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding	p.S2015R(1)|p.S1666R(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						CAGTCACACTGCTCTGGCGCT	0.562000													18	34					8.34094e-07	9.33274e-07	1	1	0
PGM2	55276	broad.mit.edu	37	4	37841740	37841740	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr4:37841740C>T	ENST00000381967.4	+	6	678	c.578C>T	c.(577-579)tCt>tTt	p.S193F	PGM2_ENST00000537241.1_Missense_Mutation_p.S33F|PGM2_ENST00000544359.1_Missense_Mutation_p.S54F	NM_018290.3	NP_060760.2	Q96G03	PGM2_HUMAN	phosphoglucomutase 2	193					glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	magnesium ion binding|phosphoglucomutase activity|phosphopentomutase activity	p.S193F(1)		breast(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1)	19						AAAGGGATTTCTCAAGCTATT	0.418000													7	212					0	0	1	0	0
ABL2	27	broad.mit.edu	37	1	179079508	179079508	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr1:179079508C>A	ENST00000502732.1	-	11	1937	c.1734G>T	c.(1732-1734)aaG>aaT	p.K578N	ABL2_ENST00000504405.1_Missense_Mutation_p.K542N|ABL2_ENST00000512653.1_Missense_Mutation_p.K563N|ABL2_ENST00000507173.1_Missense_Mutation_p.K557N|ABL2_ENST00000367623.4_Missense_Mutation_p.K557N|ABL2_ENST00000344730.3_Missense_Mutation_p.K563N|ABL2_ENST00000511413.1_Missense_Mutation_p.K578N|ABL2_ENST00000408940.3_Missense_Mutation_p.K542N	NM_001168236.1|NM_001168237.1|NM_001168238.1|NM_007314.3	NP_001161708.1|NP_001161709.1|NP_001161710.1|NP_009298.1	P42684	ABL2_HUMAN	c-abl oncogene 2, non-receptor tyrosine kinase	578					axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction	cytoskeleton|cytosol	ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding	p.K542N(1)|p.K578N(1)		breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	65					Adenosine triphosphate(DB00171)|Dasatinib(DB01254)	GTGTCCGAGTCTTGGAAGGAA	0.522000			T	ETV6	AML								69	164					4.8811e-34	7.67603e-34	1	1	0
NLGN3	54413	broad.mit.edu	37	X	70375182	70375182	+	Silent	SNP	C	C	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chrX:70375182C>T	ENST00000374051.3	+	4	958	c.636C>T	c.(634-636)gtC>gtT	p.V212V	NLGN3_ENST00000536169.1_Silent_p.V192V|NLGN3_ENST00000358741.3_Silent_p.V232V|NLGN3_ENST00000476589.1_3'UTR	NM_018977.3	NP_061850.2	Q9NZ94	NLGN3_HUMAN	neuroligin 3	232					neuron cell-cell adhesion|positive regulation of synaptogenesis|receptor-mediated endocytosis|social behavior|synapse assembly	cell surface|endocytic vesicle|integral to plasma membrane|synapse	neurexin binding|receptor activity	p.V212V(1)|p.V232V(1)		biliary_tract(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	37	Renal(35;0.156)					ATGTCATCGTCATCACCCTCA	0.537000													41	198					0	0	1	0	0
PLCG2	5336	broad.mit.edu	37	16	81957157	81957157	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr16:81957157G>T	ENST00000359376.3	+	22	2589	c.2375G>T	c.(2374-2376)cGt>cTt	p.R792L		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	792	SH3.				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	p.R792L(2)		NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						AGCTTCTGCCGTGGTGCCCTC	0.567000													21	24					3.73988e-18	4.93493e-18	1	1	0
PPP1R3C	5507	broad.mit.edu	37	10	93390364	93390364	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr10:93390364C>A	ENST00000238994.5	-	2	358	c.274G>T	c.(274-276)Ggc>Tgc	p.G92C		NM_005398.5	NP_005389.1	Q9UQK1	PPR3C_HUMAN	protein phosphatase 1, regulatory subunit 3C	92							protein serine/threonine phosphatase activity	p.G92C(1)		breast(1)|endometrium(1)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(1)	12		Colorectal(252;0.235)				AGAGAGAGGCCCTTGGAGTCA	0.478000													21	85					3.83957e-06	4.20594e-06	1	1	0
TRIM48	79097	broad.mit.edu	37	11	55032517	55032517	+	Silent	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr11:55032517C>A	ENST00000417545.2	+	2	272	c.186C>A	c.(184-186)atC>atA	p.I62I		NM_024114.3	NP_077019.2	Q8IWZ4	TRI48_HUMAN	tripartite motif containing 48	46						intracellular	zinc ion binding	p.I62I(1)|p.I46I(1)		endometrium(13)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						GGCAAGACATCCCAATTCTTA	0.458000													21	77					3.83957e-06	4.20594e-06	1	1	0
LILRP2	79166	broad.mit.edu	37	19	55222203	55222203	+	RNA	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr19:55222203G>T	ENST00000413439.1	+	0	1718																											TGAGGCCGCTGACCCTGTCCT	0.637000													17	39					1.2476e-16	1.60565e-16	1	1	0
HIST1H2AJ	8331	broad.mit.edu	37	6	27782248	27782248	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr6:27782248C>T	ENST00000333151.3	-	1	359	c.271G>A	c.(271-273)Gat>Aat	p.D91N		NM_021066.2	NP_066544.1	Q99878	H2A1J_HUMAN	histone cluster 1, H2aj	91					nucleosome assembly	nucleosome|nucleus	DNA binding	p.D91N(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(2)	11						AGCTCCTCATCGTTGCGGATG	0.612000													13	23					0	0	1	0	0
TRBV9	28586	broad.mit.edu	37	7	142239624	142239624	+	RNA	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr7:142239624G>T	ENST00000390363.2	-	0	302																											GGGAACTGTTGTGCGGAGAAT	0.502000													80	111					2.35497e-27	3.46603e-27	1	1	0
CNGB3	54714	broad.mit.edu	37	8	87738759	87738759	+	Splice_Site	SNP	C	C	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr8:87738759C>T	ENST00000320005.5	-	3	385	c.338_splice	c.e3+1	p.S113_splice	RP11-386D6.1_ENST00000519041.1_RNA|CNGB3_ENST00000519777.1_5'UTR	NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	113					signal transduction|visual perception	integral to membrane	cGMP binding	p.S113N(1)		NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						AAATGCTCACCTGTTTGGACC	0.458000													68	122					0	0	1	0	0
SLC25A22	79751	broad.mit.edu	37	11	792399	792399	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr11:792399C>A	ENST00000320230.5	-	8	1128	c.647G>T	c.(646-648)cGc>cTc	p.R216L	SLC25A22_ENST00000531214.1_Missense_Mutation_p.R216L	NM_001191061.1|NM_024698.5	NP_001177990.1|NP_078974.1	Q9H936	GHC1_HUMAN	solute carrier family 25 (mitochondrial carrier: glutamate), member 22	216						integral to membrane|mitochondrial inner membrane|nucleus	L-glutamate transmembrane transporter activity|protein binding|symporter activity	p.R216L(1)		endometrium(1)|kidney(1)|lung(2)|urinary_tract(1)	5		all_cancers(49;4.75e-06)|all_epithelial(84;0.00204)|Breast(177;0.00234)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;6.27e-26)|Epithelial(43;4.84e-25)|OV - Ovarian serous cystadenocarcinoma(40;2.72e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	L-Glutamic Acid(DB00142)	GGACGCCGGGCGGCCCAGCTG	0.662000													6	6					2.0095e-06	2.22674e-06	1	1	0
CASZ1	54897	broad.mit.edu	37	1	10725565	10725565	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr1:10725565C>T	ENST00000377022.3	-	5	397	c.80G>A	c.(79-81)gGt>gAt	p.G27D	CASZ1_ENST00000344008.5_Missense_Mutation_p.G27D|CASZ1_ENST00000478728.2_5'UTR	NM_001079843.1	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	27					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	p.G27V(1)|p.G27D(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		CTTCAGGCCACCCTTGCGTTT	0.692000													2	1					0	0	1	0	0
SPARCL1	8404	broad.mit.edu	37	4	88416205	88416205	+	Silent	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr4:88416205G>T	ENST00000418378.1	-	4	700	c.129C>A	c.(127-129)ccC>ccA	p.P43P	SPARCL1_ENST00000282470.6_Silent_p.P43P|SPARCL1_ENST00000503414.1_5'UTR	NM_001128310.1	NP_001121782.1	Q14515	SPRL1_HUMAN	SPARC-like 1 (hevin)	43	O-glycosylated at two sites.				signal transduction	extracellular space|proteinaceous extracellular matrix	calcium ion binding	p.P43P(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(2)	21				OV - Ovarian serous cystadenocarcinoma(123;0.00118)		CCCTTAAACTGGGGATTGCAG	0.358000													57	108					6.83469e-46	1.14711e-45	1	1	0
OR52A5	390054	broad.mit.edu	37	11	5153664	5153664	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr11:5153664G>T	ENST00000307388.1	-	1	208	c.209C>A	c.(208-210)gCc>gAc	p.A70D		NM_001005160.2	NP_001005160.1	Q9H2C5	O52A5_HUMAN	olfactory receptor, family 52, subfamily A, member 5	70					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A70D(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(18)|skin(3)	35		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)		AATGTCTGTGGCTGCCAACAT	0.363000													35	87					1.02591e-13	1.27737e-13	1	1	0
HYAL4	23553	broad.mit.edu	37	7	123509169	123509169	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr7:123509169G>T	ENST00000223026.4	+	3	1480	c.842G>T	c.(841-843)cGg>cTg	p.R281L	HYAL4_ENST00000476325.1_Missense_Mutation_p.R281L	NM_012269.2	NP_036401.2	Q2M3T9	HYAL4_HUMAN	hyaluronoglucosaminidase 4	281					fusion of sperm to egg plasma membrane|glycosaminoglycan catabolic process	integral to membrane	hyalurononglucosaminidase activity	p.R281L(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	23						TCCAAATTTCGGGTGCATGAA	0.443000													19	67					6.21321e-17	8.0324e-17	1	1	0
TCEAL6	158931	broad.mit.edu	37	X	101395859	101395859	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chrX:101395859C>A	ENST00000372774.3	-	3	694	c.445G>T	c.(445-447)Gct>Tct	p.A149S	TCEAL6_ENST00000372773.1_Missense_Mutation_p.A149S	NM_001006938.2	NP_001006939.2	Q6IPX3	TCAL6_HUMAN	transcription elongation factor A (SII)-like 6	149					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		p.A149S(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	14						TCCTCCTGAGCCCTTGACACA	0.517000													127	84					2.48536e-91	4.58714e-91	1	1	0
MYO9A	4649	broad.mit.edu	37	15	72197314	72197314	+	Nonsense_Mutation	SNP	G	G	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr15:72197314G>A	ENST00000356056.5	-	20	3191	c.2719C>T	c.(2719-2721)Caa>Taa	p.Q907*	MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000424560.1_Nonsense_Mutation_p.Q907*|MYO9A_ENST00000566885.1_Nonsense_Mutation_p.Q527*|MYO9A_ENST00000564571.1_Nonsense_Mutation_p.Q907*|MYO9A_ENST00000444904.1_Nonsense_Mutation_p.Q888*	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	907	Actin-binding (By similarity).|Myosin head-like 2.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity	p.Q907*(1)		NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						GGTTCTGCTTGACCAAGTGTT	0.328000													27	607					0	0	1	0	0
ADAMTS5	11096	broad.mit.edu	37	21	28304454	28304454	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr21:28304454G>T	ENST00000284987.5	-	6	2039	c.1918C>A	c.(1918-1920)Cag>Aag	p.Q640K	AP001601.2_ENST00000426771.1_RNA	NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	640	Cys-rich.				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding	p.Q640K(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						GCATCAGACTGATAGCCATTT	0.418000													20	189					6.21321e-17	8.0324e-17	1	1	0
LRP1B	53353	broad.mit.edu	37	2	141116451	141116451	+	Silent	SNP	C	C	T	rs138052993	byFrequency	TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr2:141116451C>T	ENST00000389484.3	-	73	12167	c.11196G>A	c.(11194-11196)tcG>tcA	p.S3732S		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3732	LDL-receptor class A 31.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.S3732S(1)		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)		ACATTTGCTCCGACTGTAGGC	0.383000										TSP Lung(27;0.18)			13	406					0	0	1	0	0
AKR7A3	22977	broad.mit.edu	37	1	19610596	19610596	+	Missense_Mutation	SNP	T	T	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr1:19610596T>A	ENST00000361640.4	-	6	1268	c.728A>T	c.(727-729)gAg>gTg	p.E243V		NM_012067.2	NP_036199.2	O95154	ARK73_HUMAN	aldo-keto reductase family 7, member A3 (aflatoxin aldehyde reductase)	243					cellular aldehyde metabolic process	cytosol	aldo-keto reductase (NADP) activity|electron carrier activity	p.E243V(1)		NS(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|ovary(1)|stomach(2)	13		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;1.78e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|GBM - Glioblastoma multiforme(114;0.00276)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GGCAATGCCCTCAAAGTGGTG	0.647000													12	6					0	0	1	0	0
ZXDA	7789	broad.mit.edu	37	X	57935364	57935364	+	Silent	SNP	C	C	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chrX:57935364C>T	ENST00000358697.4	-	1	1703	c.1491G>A	c.(1489-1491)ctG>ctA	p.L497L		NM_007156.4	NP_009087.1	P98168	ZXDA_HUMAN	zinc finger, X-linked, duplicated A	497	Required for interaction with ZXDC.				positive regulation of transcription, DNA-dependent	nucleus	C2H2 zinc finger domain binding|identical protein binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.L497L(1)		breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|prostate(2)|skin(1)	37						TGTGGCCTTTCAGATGTTCGG	0.542000													24	20					0	0	1	0	0
IL2RB	3560	broad.mit.edu	37	22	37532295	37532295	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr22:37532295G>T	ENST00000216223.5	-	7	874	c.676C>A	c.(676-678)Ccc>Acc	p.P226T		NM_000878.3	NP_000869.1	P14784	IL2RB_HUMAN	interleukin 2 receptor, beta	226	Fibronectin type-III.				interspecies interaction between organisms|positive regulation of survival gene product expression|protein complex assembly	external side of plasma membrane|integral to plasma membrane	interleukin-2 receptor activity	p.P226T(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(5)	23					Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)	AAGGCCAGGGGCTGGCTCCAG	0.647000													19	34					4.54149e-19	6.07649e-19	1	1	0
FBN2	2201	broad.mit.edu	37	5	127597560	127597560	+	Nonsense_Mutation	SNP	G	G	C			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr5:127597560G>C	ENST00000508053.1	-	70	9206	c.8232C>G	c.(8230-8232)taC>taG	p.Y2744*	FBN2_ENST00000262464.4_Nonsense_Mutation_p.Y2744*			P35556	FBN2_HUMAN	fibrillin 2	2744					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	p.Y2744*(2)		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)		CCAGTGACAGGTACTGCCCCT	0.438000													53	81					0	0	1	0	0
STON2	85439	broad.mit.edu	37	14	81837395	81837395	+	Missense_Mutation	SNP	C	C	G			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr14:81837395C>G	ENST00000555447.1	-	5	920	c.508G>C	c.(508-510)Gat>Cat	p.D170H	STON2_ENST00000267540.2_Missense_Mutation_p.D170H	NM_001256430.1	NP_001243359.1	Q8WXE9	STON2_HUMAN	stonin 2	170					endocytosis|intracellular protein transport|regulation of endocytosis	clathrin adaptor complex|nucleolus	protein binding	p.D170H(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5)	34				BRCA - Breast invasive adenocarcinoma(234;0.0348)		AGCTGCAGATCTGTATACGAA	0.532000													58	182					0	0	1	0	0
ILF2	3608	broad.mit.edu	37	1	153640105	153640105	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr1:153640105G>A	ENST00000361891.4	-	6	445	c.320C>T	c.(319-321)tCc>tTc	p.S107F	ILF2_ENST00000368681.1_Missense_Mutation_p.S107F	NM_001267809.1|NM_004515.3	NP_001254738.1|NP_004506.2	Q12905	ILF2_HUMAN	interleukin enhancer binding factor 2	107	DZF.				immune response|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus|ribonucleoprotein complex	ATP binding|DNA binding|double-stranded RNA binding|protein binding|transferase activity	p.S107F(1)		cervix(1)|kidney(1)|lung(4)|skin(1)	7	all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			CTTTTTATAGGATCCCACCTG	0.448000													31	384					0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	55721550	55721550	+	Silent	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr10:55721550G>T	ENST00000373965.2	-	23	3386	c.2992C>A	c.(2992-2994)Cga>Aga	p.R998R	PCDH15_ENST00000414778.1_Silent_p.R996R|PCDH15_ENST00000409834.1_Silent_p.R602R|PCDH15_ENST00000395433.1_Silent_p.R969R|PCDH15_ENST00000437009.1_Silent_p.R920R|PCDH15_ENST00000395432.2_Silent_p.R954R|PCDH15_ENST00000320301.6_Silent_p.R991R|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395438.1_Silent_p.R991R|PCDH15_ENST00000395430.1_Silent_p.R991R|PCDH15_ENST00000361849.3_Silent_p.R991R|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395445.1_Silent_p.R998R|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395440.1_Intron	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	991	Cadherin 9.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	p.R991R(2)|p.R996R(2)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				AGATTGACTCGTGTTATTACT	0.348000										HNSCC(58;0.16)			22	110					6.12954e-19	8.12553e-19	1	1	0
RYR1	6261	broad.mit.edu	37	19	38983214	38983214	+	Missense_Mutation	SNP	G	G	T	rs139775280		TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr19:38983214G>T	ENST00000355481.4	+	38	6343	c.6212G>T	c.(6211-6213)cGg>cTg	p.R2071L	RYR1_ENST00000360985.3_Missense_Mutation_p.R2071L|RYR1_ENST00000359596.3_Missense_Mutation_p.R2071L	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	2071	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.R2071L(1)		NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GAGAAAGTGCGGCTGGTGAAG	0.592000													8	10					6.72482e-11	7.99182e-11	1	1	0
FEM1A	55527	broad.mit.edu	37	19	4793326	4793326	+	Missense_Mutation	SNP	A	A	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr19:4793326A>T	ENST00000269856.3	+	1	1599	c.1460A>T	c.(1459-1461)gAc>gTc	p.D487V	AC005523.2_ENST00000601192.1_RNA	NM_018708.2	NP_061178.1	Q9BSK4	FEM1A_HUMAN	fem-1 homolog a (C. elegans)	487					regulation of ubiquitin-protein ligase activity	cytoplasm	binding|ubiquitin-protein ligase activity	p.D487V(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	17		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)		GAGCCCGGAGACTCAGCCCAG	0.642000													13	6					0	0	1	0	0
FRG2B	441581	broad.mit.edu	37	10	135440087	135440087	+	Nonsense_Mutation	SNP	T	T	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr10:135440087T>A	ENST00000443774.1	-	1	209	c.160A>T	c.(160-162)Aag>Tag	p.K54*	FRG2B_ENST00000425520.1_Nonsense_Mutation_p.K54*			Q96QU4	FRG2B_HUMAN	FSHD region gene 2 family, member B	54						nucleus		p.K54*(1)		endometrium(2)|kidney(2)|lung(14)|ovary(1)|prostate(1)	20		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)		TGTATGTGCTTCTCACTGGAA	0.488000													15	21					0	0	1	0	0
PXDN	7837	broad.mit.edu	37	2	1652268	1652268	+	Missense_Mutation	SNP	T	T	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr2:1652268T>A	ENST00000252804.4	-	17	3334	c.3284A>T	c.(3283-3285)cAc>cTc	p.H1095L		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	1095					extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity	p.H1095L(1)		breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		AAGGGGGAGGTGATCTTGTGC	0.582000													6	10					0	0	1	0	0
OR8J1	219477	broad.mit.edu	37	11	56128658	56128658	+	Silent	SNP	C	C	T	rs148720229		TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr11:56128658C>T	ENST00000303039.3	+	1	968	c.936C>T	c.(934-936)tcC>tcT	p.S312S		NM_001005205.2	NP_001005205.2	Q8NGP2	OR8J1_HUMAN	olfactory receptor, family 8, subfamily J, member 1	312					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S312S(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	47	Esophageal squamous(21;0.00448)					TGTGCTATTCCTTTAAAACAA	0.353000													41	54					0	0	1	0	0
MAGEB2	4113	broad.mit.edu	37	X	30237624	30237624	+	Missense_Mutation	SNP	A	A	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chrX:30237624A>T	ENST00000378988.4	+	2	1028	c.927A>T	c.(925-927)gaA>gaT	p.E309D		NM_002364.4	NP_002355.2	O15479	MAGB2_HUMAN	melanoma antigen family B, 2	309	MAGE.						protein binding	p.E309D(2)		breast(1)|large_intestine(3)|lung(17)|ovary(1)|skin(1)	23						ATTACGAAGAAGCTTTGAAAG	0.498000													38	12					0	0	1	0	0
RTDR1	27156	broad.mit.edu	37	22	23401723	23401723	+	Nonsense_Mutation	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr22:23401723C>A	ENST00000216036.4	-	7	1160	c.964G>T	c.(964-966)Gag>Tag	p.E322*		NM_014433.2	NP_055248.1	Q9UHP6	RTDR1_HUMAN	rhabdoid tumor deletion region gene 1	322							binding	p.E322*(1)		breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	18	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.175)		TCGTAAGTCTCCACCTCCATG	0.617000													30	38					1.36161e-19	1.83037e-19	1	1	0
MTHFSD	64779	broad.mit.edu	37	16	86582165	86582165	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr16:86582165C>A	ENST00000322911.6	-	4	303	c.253G>T	c.(253-255)Gtt>Ttt	p.V85F	MTHFSD_ENST00000543303.2_Missense_Mutation_p.V85F|MTHFSD_ENST00000546093.1_5'UTR|MTHFSD_ENST00000568037.1_5'UTR|MTHFSD_ENST00000360900.6_Missense_Mutation_p.V86F|MTHFSD_ENST00000381214.5_Missense_Mutation_p.V86F	NM_001159377.1|NM_022764.2	NP_001152849.1|NP_073601.2	Q2M296	MTHSD_HUMAN	methenyltetrahydrofolate synthetase domain containing	86					folic acid-containing compound biosynthetic process		5-formyltetrahydrofolate cyclo-ligase activity|ATP binding|RNA binding	p.V85F(1)|p.V86F(1)		endometrium(1)|large_intestine(3)|lung(6)|skin(1)	11						GGTGTTGGAACCAACAATGTT	0.358000													9	34					0.00829132	0.0085138	1	1	0
DMXL2	23312	broad.mit.edu	37	15	51829946	51829946	+	Silent	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr15:51829946C>A	ENST00000251076.5	-	11	1643	c.1356G>T	c.(1354-1356)ctG>ctT	p.L452L	DMXL2_ENST00000449909.3_Silent_p.L452L|DMXL2_ENST00000543779.2_Silent_p.L452L	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	452						cell junction|synaptic vesicle membrane	Rab GTPase binding	p.L452L(1)		breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		ATTCTCTATCCAGGGATAAAT	0.338000													47	94					3.57465e-26	5.18143e-26	1	1	0
EPHA5	2044	broad.mit.edu	37	4	66217258	66217258	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr4:66217258G>T	ENST00000273854.3	-	14	2957	c.2357C>A	c.(2356-2358)gCa>gAa	p.A786E	EPHA5_ENST00000432638.2_Missense_Mutation_p.A623E|EPHA5_ENST00000511294.1_Missense_Mutation_p.A787E|EPHA5_ENST00000354839.4_Missense_Mutation_p.A764E	NM_004439.5	NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	786	Protein kinase.				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity	p.A786E(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						CTTCATTCCTGCAGAGATACC	0.413000										TSP Lung(17;0.13)			79	77					1.0627e-70	1.93035e-70	1	1	0
IL12A-AS1	101928376	broad.mit.edu	37	3	159819567	159819567	+	RNA	SNP	G	G	A	rs11921898	by1000genomes	TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr3:159819567G>A	ENST00000497452.1	-	0	517																											GAGAGAGCAGGAGCATCTTGA	0.433000													3	45					0	0	1	0	0
MFSD8	256471	broad.mit.edu	37	4	128863281	128863281	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr4:128863281C>A	ENST00000296468.3	-	6	599	c.472G>T	c.(472-474)Ggt>Tgt	p.G158C	MFSD8_ENST00000541133.1_Missense_Mutation_p.G113C|MFSD8_ENST00000513559.1_Missense_Mutation_p.G113C|MFSD8_ENST00000515130.1_5'UTR	NM_152778.2	NP_689991.1	Q8NHS3	MFSD8_HUMAN	major facilitator superfamily domain containing 8	158					cell death|transmembrane transport	integral to membrane|lysosomal membrane		p.G158F(1)		cervix(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)	23						GAAGTAGCACCAGCAGTATAT	0.353000													54	96					1.53134e-21	2.12316e-21	1	1	0
CDH23	64072	broad.mit.edu	37	10	73550900	73550900	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr10:73550900G>T	ENST00000224721.6	+	46	6081	c.6076G>T	c.(6076-6078)Gtg>Ttg	p.V2026L		NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	2021	Cadherin 19.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding	p.V2026L(1)		NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						TGTGGTGACCGTGAGGTCAGG	0.622000													3	3					6.4e-05	6.85373e-05	1	1	0
MSANTD3	91283	broad.mit.edu	37	9	103204311	103204311	+	Missense_Mutation	SNP	G	G	C			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr9:103204311G>C	ENST00000395067.2	+	2	362	c.91G>C	c.(91-93)Gtg>Ctg	p.V31L	MSANTD3_ENST00000374885.1_Missense_Mutation_p.V31L	NM_001198805.1|NM_001198806.1|NM_080655.2	NP_001185734.1|NP_001185735.1|NP_542386.1			Myb/SANT-like DNA-binding domain containing 3									p.V31L(2)		endometrium(2)|lung(2)	4						GTATAAATATGTGCTGGAATG	0.448000													12	37					0	0	1	0	0
SHPK	23729	broad.mit.edu	37	17	3514090	3514090	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr17:3514090C>A	ENST00000225519.3	-	7	1303	c.1201G>T	c.(1201-1203)Gct>Tct	p.A401S		NM_013276.2	NP_037408.2	Q9UHJ6	SHPK_HUMAN	sedoheptulokinase	401					carbohydrate metabolic process	cytoplasm	ATP binding|sedoheptulokinase activity	p.A401S(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				COAD - Colon adenocarcinoma(5;0.0828)		CGGCACAGAGCCCGGGTCACG	0.647000													8	44					0.00829132	0.0085138	1	1	0
TRPM3	80036	broad.mit.edu	37	9	73235267	73235267	+	Silent	SNP	C	C	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr9:73235267C>T	ENST00000377110.2	-	15	2061	c.1818G>A	c.(1816-1818)ttG>ttA	p.L606L	TRPM3_ENST00000423814.3_Silent_p.L633L|TRPM3_ENST00000377105.1_Silent_p.L465L|TRPM3_ENST00000377106.1_Silent_p.L478L|TRPM3_ENST00000408909.2_Silent_p.L465L|TRPM3_ENST00000396280.5_Silent_p.L455L|TRPM3_ENST00000377111.2_Silent_p.L606L|TRPM3_ENST00000396285.1_Silent_p.L453L|TRPM3_ENST00000396292.4_Silent_p.L478L|TRPM3_ENST00000358082.3_Silent_p.L468L|TRPM3_ENST00000357533.2_Silent_p.L610L|TRPM3_ENST00000360823.2_Silent_p.L468L	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	631						integral to membrane	calcium channel activity	p.L610L(1)|p.L606L(1)|p.L478L(1)		NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						TTCCTCGCCTCAAGGGAATAT	0.438000													70	322					0	0	1	0	0
TMEM222	84065	broad.mit.edu	37	1	27658583	27658583	+	Missense_Mutation	SNP	A	A	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr1:27658583A>T	ENST00000374076.4	+	3	340	c.302A>T	c.(301-303)aAg>aTg	p.K101M		NM_032125.2	NP_115501.2	Q9H0R3	TM222_HUMAN	transmembrane protein 222	101				K -> E (in Ref. 5; BAD96362).		integral to membrane	protein binding	p.K101M(1)		biliary_tract(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	7						GCCTTTGGAAAGCCTGCCAAG	0.577000													82	72					0	0	1	0	0
UBN1	29855	broad.mit.edu	37	16	4924652	4924652	+	Silent	SNP	G	G	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr16:4924652G>A	ENST00000396658.4	+	14	2944	c.2241G>A	c.(2239-2241)ggG>ggA	p.G747G	UBN1_ENST00000262376.6_Silent_p.G747G|UBN1_ENST00000590769.1_Silent_p.G747G|UBN1_ENST00000545171.1_Silent_p.G747G	NM_016936.3	NP_058632.2	Q9NPG3	UBN1_HUMAN	ubinuclein 1	747					chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter	PML body|tight junction	DNA binding|sequence-specific DNA binding transcription factor activity	p.G747G(1)		NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						TGGCACTGGGGCAGTCCTCTC	0.527000													35	98					0	0	1	0	0
COL11A1	1301	broad.mit.edu	37	1	103471410	103471410	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr1:103471410C>A	ENST00000358392.2	-	18	2182	c.1865G>T	c.(1864-1866)gGt>gTt	p.G622V	COL11A1_ENST00000353414.4_Missense_Mutation_p.G571V|COL11A1_ENST00000461720.1_5'UTR|COL11A1_ENST00000512756.1_Missense_Mutation_p.G494V|COL11A1_ENST00000370096.3_Missense_Mutation_p.G610V	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	610	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	p.G622V(1)|p.G610V(1)		NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		ACCTTTGTCACCTGGCAGACC	0.363000													74	58					8.2166e-39	1.34368e-38	1	1	0
ANK2	287	broad.mit.edu	37	4	114158754	114158754	+	Splice_Site	SNP	G	G	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr4:114158754G>A	ENST00000357077.4	+	7	722		c.e7-1		ANK2_ENST00000264366.6_Splice_Site|ANK2_ENST00000506722.1_Splice_Site|ANK2_ENST00000394537.3_Splice_Site	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal						axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	p.?(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		CACTGCTTCAGATGATGGTGA	0.363000													40	63					0	0	1	0	0
CLEC16A	23274	broad.mit.edu	37	16	11219945	11219945	+	Silent	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr16:11219945G>T	ENST00000409790.1	+	22	2813	c.2583G>T	c.(2581-2583)cgG>cgT	p.R861R	CLEC16A_ENST00000409552.3_Silent_p.R843R|CLEC16A_ENST00000381822.2_5'UTR	NM_015226.2	NP_056041.1	Q2KHT3	CL16A_HUMAN	C-type lectin domain family 16, member A	861								p.R861R(1)|p.0?(1)		breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						AGGGGCGCCGGGGCAGCAGCG	0.657000													10	25					5.01169e-05	5.37703e-05	1	1	0
NUP188	23511	broad.mit.edu	37	9	131731775	131731775	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr9:131731775G>T	ENST00000372577.2	+	10	915	c.894G>T	c.(892-894)caG>caT	p.Q298H		NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	298					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding	p.Q298H(1)		breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						AGTTTGCGCAGGATGGGCTTA	0.423000													48	162					2.76378e-25	3.98596e-25	1	1	0
OTOP3	347741	broad.mit.edu	37	17	72938029	72938029	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr17:72938029G>T	ENST00000328801.4	+	3	524	c.524G>T	c.(523-525)tGc>tTc	p.C175F		NM_178233.1	NP_839947.1	Q7RTS5	OTOP3_HUMAN	otopetrin 3	175						integral to membrane|intracellular	zinc ion binding	p.C175F(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_lung(278;0.151)|Lung NSC(278;0.185)					TGCACCTTCTGCCTCAACATC	0.622000													24	14					8.88839e-20	1.20046e-19	1	1	0
CCKAR	886	broad.mit.edu	37	4	26487314	26487314	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr4:26487314G>T	ENST00000295589.3	-	3	765	c.571C>A	c.(571-573)Cag>Aag	p.Q191K		NM_000730.2	NP_000721.1	P32238	CCKAR_HUMAN	cholecystokinin A receptor	191					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration|response to nutrient	integral to plasma membrane	cholecystokinin receptor activity	p.Q191K(1)		NS(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|pancreas(1)|skin(1)	29		Breast(46;0.0503)			Ceruletide(DB00403)	TTCGCGGTCTGGTTGTTATTT	0.408000													42	132					9.22156e-22	1.29102e-21	1	1	0
SPHKAP	80309	broad.mit.edu	37	2	228884540	228884540	+	Missense_Mutation	SNP	C	C	G			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr2:228884540C>G	ENST00000392056.3	-	7	1076	c.1030G>C	c.(1030-1032)Gct>Cct	p.A344P	SPHKAP_ENST00000344657.5_Missense_Mutation_p.A344P	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	344						cytoplasm	protein binding	p.A344P(2)		NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		GAGAAATAAGCATCTTTTGGA	0.423000													30	105					0	0	1	0	0
MRGPRX1	259249	broad.mit.edu	37	11	18956125	18956125	+	Silent	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr11:18956125G>T	ENST00000302797.3	-	1	431	c.207C>A	c.(205-207)gcC>gcA	p.A69A	MRGPRX1_ENST00000526914.1_5'UTR	NM_147199.3	NP_671732.3	Q96LB2	MRGX1_HUMAN	MAS-related GPR, member X1	69					acute-phase response	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.A69A(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						AGTCTGCTGCGGCCAAGTTGA	0.532000													71	300					6.03386e-27	8.81281e-27	1	1	0
C14orf177	283598	broad.mit.edu	37	14	99182700	99182700	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr14:99182700C>A	ENST00000325812.2	+	3	591	c.172C>A	c.(172-174)Ctg>Atg	p.L58M		NM_182560.2	NP_872366.2	Q52M58	CN177_HUMAN	chromosome 14 open reading frame 177	58								p.L58M(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(10)	13		Melanoma(154;0.128)				GCAGCATGCCCTGACGCTCAC	0.473000													18	93					7.45023e-12	9.00301e-12	1	1	0
OR6N1	128372	broad.mit.edu	37	1	158736093	158736093	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr1:158736093C>T	ENST00000335094.2	-	1	399	c.380G>A	c.(379-381)tGc>tAc	p.C127Y		NM_001005185.1	NP_001005185.1	Q8NGY5	OR6N1_HUMAN	olfactory receptor, family 6, subfamily N, member 1	127					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.C127Y(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_hematologic(112;0.0378)					GAGGGGCCGGCAGATGGCTAA	0.522000													47	46					0	0	1	0	0
PCDHGA4	56111	broad.mit.edu	37	5	140736507	140736507	+	Silent	SNP	C	C	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr5:140736507C>T	ENST00000571252.1	+	1	1740	c.1740C>T	c.(1738-1740)cgC>cgT	p.R580R	PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018917.2	NP_061740.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGCACCCCGCTCCGCAGATT	0.587000													30	103					0	0	1	0	0
TRPM4	54795	broad.mit.edu	37	19	49691969	49691969	+	Silent	SNP	C	C	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr19:49691969C>T	ENST00000252826.5	+	13	1941	c.1815C>T	c.(1813-1815)gaC>gaT	p.D605D	TRPM4_ENST00000427978.2_Silent_p.D605D|TRPM4_ENST00000355712.5_Silent_p.D251D	NM_017636.3	NP_060106.2	Q8TD43	TRPM4_HUMAN	transient receptor potential cation channel, subfamily M, member 4	605					dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production	endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	ATP binding|calcium activated cation channel activity|calmodulin binding	p.D605D(1)		breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)		TGGAGCCTGACGCTGAGGAGG	0.642000													14	38					0	0	1	0	0
ZADH2	284273	broad.mit.edu	37	18	72920923	72920923	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr18:72920923G>T	ENST00000322342.3	-	1	380	c.91C>A	c.(91-93)Caa>Aaa	p.Q31K		NM_175907.4	NP_787103.1	Q8N4Q0	ZADH2_HUMAN	zinc binding alcohol dehydrogenase domain containing 2	31						peroxisome	oxidoreductase activity|zinc ion binding	p.Q31K(1)		endometrium(3)|large_intestine(3)|lung(8)|skin(1)	15		Esophageal squamous(42;0.131)|Prostate(75;0.155)		READ - Rectum adenocarcinoma(2;0.0276)|BRCA - Breast invasive adenocarcinoma(31;0.216)		TGCATGGCTTGGGGAATGGCG	0.716000													3	5					0.00024832	0.000261054	1	1	0
OR5F1	338674	broad.mit.edu	37	11	55761338	55761338	+	Missense_Mutation	SNP	C	C	G	rs58625186	byFrequency	TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr11:55761338C>G	ENST00000278409.1	-	1	763	c.764G>C	c.(763-765)tGc>tCc	p.C255S		NM_003697.1	NP_003688.1	O95221	OR5F1_HUMAN	olfactory receptor, family 5, subfamily F, member 1	255					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.C255S(1)		endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58	Esophageal squamous(21;0.00448)					AGTATAGATGCAGGTGGCATA	0.488000													85	127					0	0	1	0	0
TMEM214	54867	broad.mit.edu	37	2	27262916	27262916	+	Silent	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr2:27262916G>T	ENST00000238788.9	+	15	1703	c.1641G>T	c.(1639-1641)ctG>ctT	p.L547L	TMEM214_ENST00000404032.3_Silent_p.L502L	NM_017727.4	NP_060197.4	Q6NUQ4	TM214_HUMAN	transmembrane protein 214	547						integral to membrane	protein binding	p.L547L(1)		kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						GGGAGACACTGCCGCTCTGGG	0.627000													6	13					5.50884e-06	6.00014e-06	1	1	0
GLRX2	51022	broad.mit.edu	37	1	193066850	193066850	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr1:193066850G>T	ENST00000367440.3	-	3	702	c.227C>A	c.(226-228)aCa>aAa	p.T76K	GLRX2_ENST00000367439.3_Missense_Mutation_p.T75K|GLRX2_ENST00000472197.1_5'UTR	NM_001243399.1|NM_016066.4	NP_001230328.1|NP_057150.2	Q9NS18	GLRX2_HUMAN	glutaredoxin 2	75	Glutaredoxin.				apoptosis|cell differentiation|cell redox homeostasis|DNA protection|electron transport chain|glutathione metabolic process|protein thiol-disulfide exchange|regulation of signal transduction|regulation of transcription, DNA-dependent|response to hydrogen peroxide|response to organic substance|response to redox state|response to temperature stimulus|transport	mitochondrion|nucleus	2 iron, 2 sulfur cluster binding|arsenate reductase (glutaredoxin) activity|electron carrier activity|glutathione disulfide oxidoreductase activity|metal ion binding|protein disulfide oxidoreductase activity	p.T76K(1)		breast(1)|large_intestine(1)|lung(3)	5					Glutathione(DB00143)	AGAACAGGATGTTTTTGAGAA	0.313000													5	16					6.5536e-12	7.95299e-12	1	1	0
TCP11L1	55346	broad.mit.edu	37	11	33076262	33076262	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr11:33076262C>T	ENST00000334274.4	+	3	687	c.287C>T	c.(286-288)cCa>cTa	p.P96L	TCP11L1_ENST00000530171.1_Intron|TCP11L1_ENST00000531632.2_Missense_Mutation_p.P96L|TCP11L1_ENST00000432887.1_Missense_Mutation_p.P96L	NM_018393.3	NP_060863.3	Q9NUJ3	T11L1_HUMAN	t-complex 11, testis-specific-like 1	96								p.P96L(1)		kidney(1)|liver(2)|lung(2)|skin(1)	6						GTTGAATTACCAGAAAACAGG	0.373000													20	114					0	0	1	0	0
ZNF487	642819	broad.mit.edu	37	10	43971248	43971248	+	Missense_Mutation	SNP	C	C	G	rs11816311	by1000genomes	TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr10:43971248C>G	ENST00000431662.1	+	2	182	c.182C>G	c.(181-183)cCg>cGg	p.P61R	ZNF487_ENST00000437590.2_5'UTR																							CAGAGGACCCCGTACAGAGAC	0.468000													3	44					0	0	1	0	0
FER1L6	654463	broad.mit.edu	37	8	125015557	125015557	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr8:125015557C>A	ENST00000522917.1	+	13	1876	c.1670C>A	c.(1669-1671)cCg>cAg	p.P557Q	FER1L6-AS1_ENST00000518567.1_RNA|FER1L6_ENST00000399018.1_Missense_Mutation_p.P557Q	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	557						integral to membrane		p.P557Q(1)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			ACCACTCACCCGGAGAAGCCA	0.522000													50	87					3.69863e-55	6.53236e-55	1	1	0
CLPTM1	1209	broad.mit.edu	37	19	45495879	45495879	+	Silent	SNP	C	C	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr19:45495879C>T	ENST00000541297.2	+	14	2157	c.1692C>T	c.(1690-1692)ttC>ttT	p.F564F	CLPTM1_ENST00000546079.1_Silent_p.F476F|CLPTM1_ENST00000337392.5_Silent_p.F578F			O96005	CLPT1_HUMAN	cleft lip and palate associated transmembrane protein 1	578					cell differentiation|multicellular organismal development|regulation of T cell differentiation in thymus	external side of plasma membrane|integral to plasma membrane		p.F578F(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00354)|Epithelial(262;0.187)		ATGTGGTTTTCTTCATCTACC	0.647000													11	36					0	0	1	0	0
NHS	4810	broad.mit.edu	37	X	17746185	17746185	+	Missense_Mutation	SNP	T	T	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chrX:17746185T>A	ENST00000380060.3	+	6	4234	c.3896T>A	c.(3895-3897)gTg>gAg	p.V1299E	NHS_ENST00000398097.3_Missense_Mutation_p.V1143E	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	1299						nucleus		p.V1299E(1)|p.V1143E(1)		breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					CCTGAATCTGTGGATGTAATC	0.438000													67	89					0	0	1	0	0
ROBO4	54538	broad.mit.edu	37	11	124754802	124754802	+	Silent	SNP	A	A	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr11:124754802A>T	ENST00000306534.3	-	18	3494	c.3009T>A	c.(3007-3009)ccT>ccA	p.P1003P	RP11-664I21.5_ENST00000524453.1_RNA|ROBO4_ENST00000533054.1_Silent_p.P858P	NM_019055.5	NP_061928.4	Q8WZ75	ROBO4_HUMAN	roundabout, axon guidance receptor, homolog 4 (Drosophila)	1003					angiogenesis|cell differentiation	integral to membrane	receptor activity	p.P1003P(1)		NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		AGTAATCTACAGGAGAAGCTG	0.557000													18	58					0	0	1	0	0
LRRK1	79705	broad.mit.edu	37	15	101597252	101597252	+	Silent	SNP	G	G	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr15:101597252G>A	ENST00000284395.5	+	29	4915	c.4515G>A	c.(4513-4515)gaG>gaA	p.E1505E	LRRK1_ENST00000388948.3_Silent_p.E1508E|RP11-505E24.2_ENST00000559857.1_RNA			Q38SD2	LRRK1_HUMAN	leucine-rich repeat kinase 1	1508	Protein kinase.				small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.E1520E(1)|p.E1508E(1)		breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CTAAGCCAGAGAAGGTACTTG	0.647000													10	20					0	0	1	0	0
FRMPD2	143162	broad.mit.edu	37	10	49393636	49393636	+	Silent	SNP	A	A	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr10:49393636A>T	ENST00000374201.3	-	18	2621	c.2319T>A	c.(2317-2319)atT>atA	p.I773I	FRMPD2_ENST00000407470.4_Silent_p.I741I|FRMPD2_ENST00000305531.3_Silent_p.I748I	NM_001018071.3	NP_001018081.3	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2	773					tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding	p.I773I(1)		NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		TCACACGTACAATTTCTCGGC	0.498000													40	70					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152285860	152285860	+	Missense_Mutation	SNP	C	C	T	rs145828067		TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr1:152285860C>T	ENST00000368799.1	-	3	1537	c.1502G>A	c.(1501-1503)cGa>cAa	p.R501Q	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	501	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.R501Q(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGAGCTGTCTCGTGCCTGCTC	0.612000									Ichthyosis				10	300					0	0	1	0	0
SPDL1	54908	broad.mit.edu	37	5	169023609	169023609	+	Silent	SNP	A	A	G			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr5:169023609A>G	ENST00000265295.4	+	8	1215	c.936A>G	c.(934-936)gaA>gaG	p.E312E		NM_017785.4	NP_060255.3			spindle apparatus coiled-coil protein 1									p.E312E(1)									CTCAAACTGAATTTGAGCAGC	0.348000													26	89					0	0	1	0	0
PRKG2	5593	broad.mit.edu	37	4	82126159	82126159	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr4:82126159C>A	ENST00000395578.1	-	2	159	c.43G>T	c.(43-45)Gat>Tat	p.D15Y	PRKG2_ENST00000418486.2_Missense_Mutation_p.D15Y|PRKG2_ENST00000264399.1_Missense_Mutation_p.D15Y			Q13237	KGP2_HUMAN	protein kinase, cGMP-dependent, type II	15					platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity	p.D15Y(2)		NS(1)|breast(4)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	37						GAGTGTCCATCTGGGTGCTTA	0.502000													3	38					0.00909568	0.00927339	1	1	0
EPHA5	2044	broad.mit.edu	37	4	66356125	66356125	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr4:66356125C>A	ENST00000273854.3	-	5	1972	c.1372G>T	c.(1372-1374)Gtg>Ttg	p.V458L	EPHA5_ENST00000432638.2_Intron|EPHA5_ENST00000511294.1_Missense_Mutation_p.V458L|EPHA5_ENST00000354839.4_Missense_Mutation_p.V458L	NM_004439.5	NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	458	Fibronectin type-III 1.				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity	p.V458L(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						TTTACAGACACATACTGCCGG	0.478000										TSP Lung(17;0.13)			9	114					0.010729	0.0109193	1	1	0
QSOX2	169714	broad.mit.edu	37	9	139115958	139115958	+	Splice_Site	SNP	C	C	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr9:139115958C>T	ENST00000358701.5	-	4	516	c.478_splice	c.e4-1	p.G160_splice		NM_181701.3	NP_859052.3	Q6ZRP7	QSOX2_HUMAN	quiescin Q6 sulfhydryl oxidase 2	160	Thioredoxin.				cell redox homeostasis	extracellular region|integral to membrane|nuclear membrane|plasma membrane	thiol oxidase activity	p.G160E(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)	22		Myeloproliferative disorder(178;0.0511)		Epithelial(140;7.78e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.55e-07)		TCGGTCAGGTCCTGCCGGAAG	0.657000													11	21					0	0	1	0	0
LRFN2	57497	broad.mit.edu	37	6	40399650	40399650	+	Silent	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr6:40399650G>T	ENST00000338305.6	-	2	1745	c.1203C>A	c.(1201-1203)ggC>ggA	p.G401G		NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III domain containing 2	401						cell junction|integral to membrane|postsynaptic membrane		p.G401G(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					TCTTGCTGGAGCCAGTGATGT	0.657000													7	5					9.31168e-06	1.01229e-05	1	1	0
TRPM3	80036	broad.mit.edu	37	9	73235278	73235278	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr9:73235278C>T	ENST00000377110.2	-	15	2050	c.1807G>A	c.(1807-1809)Gat>Aat	p.D603N	TRPM3_ENST00000423814.3_Missense_Mutation_p.D630N|TRPM3_ENST00000377105.1_Missense_Mutation_p.D462N|TRPM3_ENST00000377106.1_Missense_Mutation_p.D475N|TRPM3_ENST00000408909.2_Missense_Mutation_p.D462N|TRPM3_ENST00000396280.5_Missense_Mutation_p.D452N|TRPM3_ENST00000377111.2_Missense_Mutation_p.D603N|TRPM3_ENST00000396285.1_Missense_Mutation_p.D450N|TRPM3_ENST00000396292.4_Missense_Mutation_p.D475N|TRPM3_ENST00000358082.3_Missense_Mutation_p.D465N|TRPM3_ENST00000357533.2_Missense_Mutation_p.D607N|TRPM3_ENST00000360823.2_Missense_Mutation_p.D465N	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	628						integral to membrane	calcium channel activity	p.D607N(1)|p.D603N(1)|p.D475N(1)		NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						AAGGGAATATCATCCTGTAAT	0.438000													59	316					0	0	1	0	0
ALK	238	broad.mit.edu	37	2	30143102	30143102	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr2:30143102C>A	ENST00000389048.3	-	1	1330	c.424G>T	c.(424-426)Gtg>Ttg	p.V142L	ALK_ENST00000431873.1_Missense_Mutation_p.V142L	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	142					protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	p.V142L(1)	ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	AGCTCCAGCACCAACTGCTTG	0.701000			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				3	3					0.115264	0.115667	1	1	0
MIR517C	574492	broad.mit.edu	37	19	54244639	54244639	+	RNA	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr19:54244639G>T	ENST00000385103.1	+	0	73					NR_030214.1																						CATCCTTTTAGAGTGTTACTG	0.428000													41	123					3.7052e-28	5.46732e-28	1	1	0
OLAH	55301	broad.mit.edu	37	10	15106469	15106469	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr10:15106469C>A	ENST00000378217.3	+	6	716	c.529C>A	c.(529-531)Cat>Aat	p.H177N	OLAH_ENST00000378228.3_Missense_Mutation_p.H124N	NM_018324.2	NP_060794.1	Q9NV23	SAST_HUMAN	oleoyl-ACP hydrolase	124					fatty acid biosynthetic process		myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity	p.H177N(1)		endometrium(2)|large_intestine(1)|lung(14)|stomach(1)	18						AGAACCATTGCATTTATTTTT	0.373000													24	79					1.13719e-10	1.34587e-10	1	1	0
METTL18	92342	broad.mit.edu	37	1	169762027	169762027	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr1:169762027C>A	ENST00000310392.4	-	2	1163	c.810G>T	c.(808-810)tgG>tgT	p.W270C	C1orf112_ENST00000498289.1_Intron|METTL18_ENST00000303469.2_Missense_Mutation_p.W270C	NM_033418.2	NP_219486.1	O95568	MET18_HUMAN	methyltransferase like 18	270						cytoplasm	protein methyltransferase activity	p.W270C(1)		kidney(1)|large_intestine(3)|lung(4)	8						AAAACTCAGACCACTCACCAG	0.328000													41	45					8.69298e-16	1.10149e-15	1	1	0
GNE	10020	broad.mit.edu	37	9	36246104	36246104	+	Silent	SNP	C	C	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr9:36246104C>T	ENST00000396594.3	-	3	744	c.633G>A	c.(631-633)ttG>ttA	p.L211L	GNE_ENST00000377902.5_Silent_p.L180L|GNE_ENST00000447283.2_Silent_p.L180L|GNE_ENST00000539208.1_Silent_p.L121L|GNE_ENST00000543356.2_Silent_p.L175L|GNE_ENST00000539815.1_Silent_p.L180L	NM_001128227.2	NP_001121699.1	Q9Y223	GLCNE_HUMAN	glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase	180					cell adhesion|lipopolysaccharide biosynthetic process|N-acetylneuraminate metabolic process|UDP-N-acetylglucosamine metabolic process		ATP binding|N-acylmannosamine kinase activity|UDP-N-acetylglucosamine 2-epimerase activity	p.L180L(1)|p.L211L(1)|p.L175L(1)		endometrium(8)|kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			STAD - Stomach adenocarcinoma(86;0.228)			GGCAGCCTGCCAAAAGGATGC	0.483000													5	136					0	0	1	0	0
ZXDB	158586	broad.mit.edu	37	X	57620678	57620678	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chrX:57620678G>T	ENST00000374888.1	+	1	2410	c.2197G>T	c.(2197-2199)Gac>Tac	p.D733Y		NM_007157.3	NP_009088.1	P98169	ZXDB_HUMAN	zinc finger, X-linked, duplicated B	733					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	p.D733Y(1)		NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(2)|skin(6)	27						GCTAACAGTGGACACAGATGC	0.502000													22	17					7.38237e-10	8.6303e-10	1	1	0
ETAA1	54465	broad.mit.edu	37	2	67630052	67630052	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr2:67630052C>T	ENST00000272342.5	+	4	618	c.488C>T	c.(487-489)cCt>cTt	p.P163L	ETAA1_ENST00000462772.1_3'UTR	NM_019002.3	NP_061875.2	Q9NY74	ETAA1_HUMAN	Ewing tumor-associated antigen 1	163						cytoplasm|nucleus		p.P163L(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	33						ACTGCTATTCCTTGTACTCCC	0.368000													40	69					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82585203	82585203	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr7:82585203G>T	ENST00000423517.2	-	5	5403	c.5066C>A	c.(5065-5067)aCa>aAa	p.T1689K	PCLO_ENST00000333891.8_Missense_Mutation_p.T1689K	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	1620					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	p.T1689K(2)|p.T1689fs*6(1)|p.T1620fs*6(1)|p.T1620K(1)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						ATACAAACTTGTTTTTTTCTG	0.428000													15	22					2.5808e-16	3.29928e-16	1	1	0
DISP1	84976	broad.mit.edu	37	1	223177391	223177391	+	Silent	SNP	G	G	A	rs138904556	by1000genomes	TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr1:223177391G>A	ENST00000284476.6	+	8	2816	c.2652G>A	c.(2650-2652)gaG>gaA	p.E884E		NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	884					diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity	p.E884E(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		ACAAGCAAGAGATTTTTGAAC	0.488000													13	51					0	0	1	0	0
SLC8A1	6546	broad.mit.edu	37	2	40656621	40656621	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr2:40656621C>A	ENST00000406785.1	-	2	989	c.800G>T	c.(799-801)cGa>cTa	p.R267L	SLC8A1_ENST00000408028.2_Missense_Mutation_p.R267L|SLC8A1_ENST00000406391.2_Missense_Mutation_p.R267L|SLC8A1_ENST00000405901.3_Missense_Mutation_p.R267L|SLC8A1_ENST00000405269.1_Missense_Mutation_p.R267L|SLC8A1_ENST00000403092.1_Missense_Mutation_p.R267L|SLC8A1_ENST00000402441.1_Missense_Mutation_p.R267L|SLC8A1_ENST00000332839.4_Missense_Mutation_p.R267L|SLC8A1_ENST00000542756.1_Missense_Mutation_p.R267L|SLC8A1_ENST00000542024.1_Missense_Mutation_p.R267L			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	267	Calmodulin-binding (Potential).				cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding	p.R267L(2)		NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	CTTGCCAGCTCGATACCTCTT	0.433000													76	181					8.92586e-32	1.36625e-31	1	1	0
CLNK	116449	broad.mit.edu	37	4	10566369	10566369	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr4:10566369G>T	ENST00000226951.6	-	7	564	c.325C>A	c.(325-327)Ccc>Acc	p.P109T	CLNK_ENST00000507719.1_Missense_Mutation_p.P67T|CLNK_ENST00000442825.2_Missense_Mutation_p.P67T	NM_052964.2	NP_443196.2	Q7Z7G1	CLNK_HUMAN	cytokine-dependent hematopoietic cell linker	109					immune response|intracellular signal transduction	intracellular	SH3/SH2 adaptor activity	p.P109T(2)		NS(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(1)	17						AACGGAAGGGGAGTGTCCATT	0.428000													27	116					3.69857e-22	5.21616e-22	1	1	0
SECTM1	6398	broad.mit.edu	37	17	80280050	80280050	+	Missense_Mutation	SNP	G	G	C			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr17:80280050G>C	ENST00000269389.3	-	5	1084	c.734C>G	c.(733-735)gCc>gGc	p.A245G	SECTM1_ENST00000580437.1_3'UTR	NM_003004.2	NP_002995.1	Q8WVN6	SCTM1_HUMAN	secreted and transmembrane 1	245					immune response|mesoderm development|positive regulation of I-kappaB kinase/NF-kappaB cascade	extracellular space|Golgi apparatus|integral to membrane|plasma membrane	cytokine activity|signal transducer activity	p.A245G(1)		endometrium(1)|large_intestine(2)|lung(1)	4	Breast(20;0.000675)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.249)		OV - Ovarian serous cystadenocarcinoma(97;0.00928)|BRCA - Breast invasive adenocarcinoma(99;0.0833)			TGGGTCTGCGGCATATGGAAA	0.657000													6	2					0	0	1	0	0
ARMC3	219681	broad.mit.edu	37	10	23257283	23257283	+	Translation_Start_Site	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr10:23257283C>A	ENST00000376528.4	+	0	323				ARMC3_ENST00000409983.3_Missense_Mutation_p.L261I|ARMC3_ENST00000409049.3_Missense_Mutation_p.L261I|ARMC3_ENST00000298032.5_Missense_Mutation_p.L261I			Q5W041	ARMC3_HUMAN	armadillo repeat containing 3								binding	p.L261I(1)		breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						AGCCAATTGCCTTGAAGACAT	0.358000													109	225					4.30233e-46	7.28478e-46	1	1	0
LRFN2	57497	broad.mit.edu	37	6	40360626	40360626	+	Missense_Mutation	SNP	A	A	C			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr6:40360626A>C	ENST00000338305.6	-	3	1968	c.1426T>G	c.(1426-1428)Ttc>Gtc	p.F476V		NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III domain containing 2	476	Fibronectin type-III.					cell junction|integral to membrane|postsynaptic membrane		p.F476V(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					TTGACCACGAAGGCCTTGTTG	0.597000													16	24					0	0	1	0	0
CT47B1	643311	broad.mit.edu	37	X	120008777	120008777	+	Missense_Mutation	SNP	T	T	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chrX:120008777T>A	ENST00000371311.3	-	1	1002	c.748A>T	c.(748-750)Acc>Tcc	p.T250S		NM_001145718.1	NP_001139190.1	P0C2W7	CT47B_HUMAN	cancer/testis antigen family 47, member B1	250								p.T250S(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|lung(9)|ovary(1)|skin(1)	22						TCCTCTGAGGTCGGTTCCTCT	0.697000													17	8					0	0	1	0	0
LOC440040	440040	broad.mit.edu	37	11	49830150	49830150	+	RNA	SNP	C	C	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr11:49830150C>T	ENST00000527477.1	+	0	1481																											GTGCAGGGCCCATCACTGGAC	0.483000													10	16					0	0	1	0	0
KIAA1377	57562	broad.mit.edu	37	11	101793446	101793446	+	Missense_Mutation	SNP	G	G	T	rs142032267		TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr11:101793446G>T	ENST00000263468.8	+	2	473	c.203G>T	c.(202-204)cGa>cTa	p.R68L		NM_020802.2	NP_065853.2	Q9P2H0	K1377_HUMAN	KIAA1377	68							protein binding	p.R68L(1)		breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		AAAATATGTCGAAATCGAGCA	0.303000													6	11					0.00116845	0.00121501	1	1	0
DIP2A	23181	broad.mit.edu	37	21	47978160	47978160	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr21:47978160G>T	ENST00000318711.7	+	32	4009	c.3826G>T	c.(3826-3828)Gtg>Ttg	p.V1276L	DIP2A_ENST00000417564.2_Missense_Mutation_p.V1275L|DIP2A_ENST00000400274.1_Missense_Mutation_p.V1271L	NM_001146116.1|NM_015151.3	NP_001139588.1|NP_055966.2	Q14689	DIP2A_HUMAN	DIP2 disco-interacting protein 2 homolog A (Drosophila)	1275					multicellular organismal development	nucleus	catalytic activity|transcription factor binding	p.V1275L(1)|p.V1276L(1)		cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		CCTGTCATGTGTGCGCACGTG	0.657000													6	12					8.12818e-05	8.65599e-05	1	1	0
PIK3C2B	5287	broad.mit.edu	37	1	204394057	204394057	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr1:204394057G>A	ENST00000367187.3	-	34	5384	c.4828C>T	c.(4828-4830)Cgc>Tgc	p.R1610C	PIK3C2B_ENST00000424712.2_Missense_Mutation_p.R1582C|RP11-739N20.2_ENST00000443515.1_RNA	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	1610					cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding	p.R1610C(1)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			TCTCGCAGGCGGATGTTCACC	0.637000													30	33					0	0	1	0	0
TENM2	57451	broad.mit.edu	37	5	167645863	167645863	+	Missense_Mutation	SNP	T	T	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr5:167645863T>A	ENST00000519204.1	+	22	4722	c.4604T>A	c.(4603-4605)aTc>aAc	p.I1535N	TENM2_ENST00000403607.2_Missense_Mutation_p.I1480N|TENM2_ENST00000520394.1_Missense_Mutation_p.I1417N|TENM2_ENST00000518659.1_Missense_Mutation_p.I1656N|TENM2_ENST00000545108.1_Missense_Mutation_p.I1655N					teneurin transmembrane protein 2									p.I1489N(1)|p.I1535N(1)|p.I1656N(1)									GACAACCAGATCATCACCCTC	0.532000													153	496					0	0	1	0	0
ZNF519	162655	broad.mit.edu	37	18	14105896	14105896	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr18:14105896C>A	ENST00000590202.1	-	3	795	c.643G>T	c.(643-645)Ggt>Tgt	p.G215C	ZNF519_ENST00000589498.1_Intron|ZNF519_ENST00000589203.1_Intron	NM_145287.3	NP_660330.2	Q8TB69	ZN519_HUMAN	zinc finger protein 519	215					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G215C(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1)	18						GAAGTTTCACCACATTCATTA	0.299000													38	86					3.37043e-27	4.93527e-27	1	1	0
NR1H4	9971	broad.mit.edu	37	12	100926373	100926373	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr12:100926373G>A	ENST00000548884.1	+	5	1124	c.583G>A	c.(583-585)Gaa>Aaa	p.E195K	NR1H4_ENST00000549996.1_Intron|NR1H4_ENST00000551379.1_Missense_Mutation_p.E205K|NR1H4_ENST00000392986.3_Missense_Mutation_p.E195K|NR1H4_ENST00000188403.7_Missense_Mutation_p.E205K	NM_001206977.1|NM_001206979.1|NM_005123.3	NP_001193906.1|NP_001193908.1|NP_005114.1	Q96RI1	NR1H4_HUMAN	nuclear receptor subfamily 1, group H, member 4	205					bile acid metabolic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding	p.E195K(1)|p.E205K(1)		NS(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	44						AATGTTGGCTGAATGTATGTA	0.408000													7	259					0	0	1	0	0
ZNF610	162963	broad.mit.edu	37	19	52869019	52869019	+	Nonsense_Mutation	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr19:52869019G>T	ENST00000601151.1	+	5	711	c.259G>T	c.(259-261)Gag>Tag	p.E87*	ZNF610_ENST00000403906.3_Nonsense_Mutation_p.E130*|ZNF610_ENST00000327920.8_Nonsense_Mutation_p.E130*|ZNF610_ENST00000321287.8_Nonsense_Mutation_p.E130*	NM_001161427.1	NP_001154899.1	Q8N9Z0	ZN610_HUMAN	zinc finger protein 610	130	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E130*(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(8)|liver(2)|lung(9)|ovary(2)|stomach(2)|upper_aerodigestive_tract(2)	34				OV - Ovarian serous cystadenocarcinoma(262;0.00396)|GBM - Glioblastoma multiforme(134;0.00434)		ATTAACCCTTGAGGCACATCT	0.398000													77	134					3.11363e-52	5.36704e-52	1	1	0
LCE2C	353140	broad.mit.edu	37	1	152648744	152648744	+	Silent	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr1:152648744C>A	ENST00000368783.1	+	2	308	c.253C>A	c.(253-255)Cgg>Agg	p.R85R	LCE2B_ENST00000417924.2_Intron	NM_178429.2	NP_848516.1	Q5TA81	LCE2C_HUMAN	late cornified envelope 2C	85	Cys-rich.				keratinization			p.R85W(2)|p.R85R(1)		endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)	13	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCACCGGCGCCGGCACCAGAG	0.682000													11	12					4.96729e-08	5.64599e-08	1	1	0
CPXCR1	53336	broad.mit.edu	37	X	88009116	88009116	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chrX:88009116G>T	ENST00000276127.4	+	3	960	c.701G>T	c.(700-702)aGg>aTg	p.R234M	CPXCR1_ENST00000373111.1_Missense_Mutation_p.R234M	NM_033048.5	NP_149037.4	Q8N123	CPXCR_HUMAN	CPX chromosome region, candidate 1	234						intracellular	zinc ion binding	p.R234I(1)		NS(1)|cervix(1)|kidney(1)|large_intestine(11)|liver(1)|lung(20)|ovary(3)|upper_aerodigestive_tract(2)	40						GCTATTGTGAGGTCTGTGCTC	0.363000													22	28					1.38267e-23	1.96448e-23	1	1	0
FTSJ1	24140	broad.mit.edu	37	X	48340805	48340805	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chrX:48340805C>A	ENST00000019019.2	+	11	1093	c.664C>A	c.(664-666)Cag>Aag	p.Q222K	FTSJ1_ENST00000496365.1_3'UTR|FTSJ1_ENST00000348411.2_Missense_Mutation_p.Q224K|FTSJ1_ENST00000396894.4_Missense_Mutation_p.Q87K|FTSJ1_ENST00000456787.1_Missense_Mutation_p.Q222K	NM_177439.1	NP_803188.1	Q9UET6	RRMJ1_HUMAN	FtsJ RNA methyltransferase homolog 1 (E. coli)	224					RNA methylation|rRNA processing		methyltransferase activity|nucleic acid binding	p.Q224K(1)		breast(1)|central_nervous_system(1)|lung(4)|skin(1)	7						AGATTTCAACCAGCTGGATGG	0.582000													6	45					8.12818e-05	8.65599e-05	1	1	0
MEOX2	4223	broad.mit.edu	37	7	15652213	15652213	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr7:15652213C>A	ENST00000262041.5	-	3	1123	c.714G>T	c.(712-714)agG>agT	p.R238S		NM_005924.4	NP_005915.2	P50222	MEOX2_HUMAN	mesenchyme homeobox 2	238					blood circulation|multicellular organismal development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.R238S(1)		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)		ACTTCATCCGCCTGTTTTGGA	0.438000													19	93					7.45023e-12	9.00301e-12	1	1	0
NCOR1P1	149934	broad.mit.edu	37	20	26084304	26084304	+	RNA	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr20:26084304G>T	ENST00000478176.1	-	0	153					NR_003678.1													p.P38T(1)									CCAAATGCTGGATCCTTTAGA	0.393000													15	100					2.48551e-13	3.08805e-13	1	1	0
TMEM132D	121256	broad.mit.edu	37	12	130185209	130185209	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr12:130185209C>A	ENST00000422113.2	-	2	440	c.114G>T	c.(112-114)caG>caT	p.Q38H		NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	38						integral to membrane		p.Q38H(1)		NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		AGGAAAACCTCTGGATGCTCT	0.542000													36	26					3.4597e-24	4.96467e-24	1	1	0
MAGEE2	139599	broad.mit.edu	37	X	75003586	75003586	+	Missense_Mutation	SNP	A	A	G			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chrX:75003586A>G	ENST00000373359.2	-	1	1493	c.1301T>C	c.(1300-1302)gTa>gCa	p.V434A		NM_138703.4	NP_619648.1	Q8TD90	MAGE2_HUMAN	melanoma antigen family E, 2	434	MAGE 2.							p.V434A(1)		autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CTTTCTCCCTACATCCACACT	0.453000													11	231					0	0	1	0	0
ADCY8	114	broad.mit.edu	37	8	131795974	131795974	+	Silent	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr8:131795974G>T	ENST00000286355.5	-	17	5323	c.3231C>A	c.(3229-3231)atC>atA	p.I1077I	ADCY8_ENST00000377928.3_Silent_p.I946I	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	1077					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding	p.I1077I(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			AATGCTTGTTGATCTCCTGTA	0.502000										HNSCC(32;0.087)			90	168					5.30932e-60	9.46444e-60	1	1	0
CPXCR1	53336	broad.mit.edu	37	X	88009117	88009117	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chrX:88009117G>T	ENST00000276127.4	+	3	961	c.702G>T	c.(700-702)agG>agT	p.R234S	CPXCR1_ENST00000373111.1_Missense_Mutation_p.R234S	NM_033048.5	NP_149037.4	Q8N123	CPXCR_HUMAN	CPX chromosome region, candidate 1	234						intracellular	zinc ion binding	p.R234I(1)		NS(1)|cervix(1)|kidney(1)|large_intestine(11)|liver(1)|lung(20)|ovary(3)|upper_aerodigestive_tract(2)	40						CTATTGTGAGGTCTGTGCTCT	0.363000													22	27					1.38267e-23	1.96448e-23	1	1	0
MAGI2	9863	broad.mit.edu	37	7	78131003	78131003	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr7:78131003G>T	ENST00000354212.4	-	5	1109	c.856C>A	c.(856-858)Cag>Aag	p.Q286K	MAGI2_ENST00000535697.1_Missense_Mutation_p.Q123K|MAGI2_ENST00000419488.1_Missense_Mutation_p.Q286K|MAGI2_ENST00000536571.1_Missense_Mutation_p.Q118K|MAGI2_ENST00000522391.1_Missense_Mutation_p.Q286K	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	286						cell junction|synapse|synaptosome	phosphatase binding	p.Q286K(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				TCATCCATCTGCTCCTTCAGC	0.507000													25	101					1.88708e-17	2.47303e-17	1	1	0
PPP2R5B	5526	broad.mit.edu	37	11	64699039	64699039	+	Silent	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr11:64699039G>T	ENST00000164133.2	+	10	1576	c.954G>T	c.(952-954)cgG>cgT	p.R318R		NM_006244.3	NP_006235.1	Q15173	2A5B_HUMAN	protein phosphatase 2, regulatory subunit B', beta	318					signal transduction	cytoplasm|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity	p.R318R(1)		central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(2)	21						AGGTGATCCGGGGGCTGCTCA	0.597000													8	12					0.000978159	0.00102084	1	1	0
SHC2	25759	broad.mit.edu	37	19	436212	436212	+	Silent	SNP	G	G	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr19:436212G>A	ENST00000264554.6	-	7	905	c.906C>T	c.(904-906)ttC>ttT	p.F302F		NM_012435.2	NP_036567.2	P98077	SHC2_HUMAN	SHC (Src homology 2 domain containing) transforming protein 2	302	PID.				insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol				endometrium(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	21		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGTACTGCTTGAAGCGCAGCT	0.657000													4	4					0	0	1	0	0
CHAT	1103	broad.mit.edu	37	10	50870742	50870742	+	Missense_Mutation	SNP	G	G	C			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr10:50870742G>C	ENST00000395562.2	+	15	2114	c.1645G>C	c.(1645-1647)Gcc>Ccc	p.A549P	CHAT_ENST00000337653.2_Missense_Mutation_p.A631P|CHAT_ENST00000395559.2_Missense_Mutation_p.A513P|CHAT_ENST00000339797.1_Missense_Mutation_p.A513P|CHAT_ENST00000351556.3_Missense_Mutation_p.A513P|CHAT_ENST00000455728.2_Missense_Mutation_p.A513P	NM_001142933.1|NM_001142934.1	NP_001136405.1|NP_001136406.1	P28329	CLAT_HUMAN	choline O-acetyltransferase	631					neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity	p.A631P(1)		central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)	GCGGGAGCTGGCCCGGGCCAT	0.587000													76	95					0	0	1	0	0
SIGLECL1	284369	broad.mit.edu	37	19	51770634	51770634	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr19:51770634C>A	ENST00000316401.7	+	5	799	c.418C>A	c.(418-420)Cat>Aat	p.H140N	CTD-3187F8.2_ENST00000597569.1_RNA|SIGLECL1_ENST00000593968.1_3'UTR|SIGLECL1_ENST00000597824.1_Missense_Mutation_p.H46N	NM_173635.1	NP_775906.1			SIGLEC family like 1									p.H140N(1)									TAGAGTGAAACATATCAGAAA	0.453000													81	244					1.36798e-35	2.20567e-35	1	1	0
BRD4	23476	broad.mit.edu	37	19	15365073	15365073	+	Splice_Site	SNP	G	G	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr19:15365073G>A	ENST00000263377.2	-	11	2269	c.2047_splice	c.e11-1	p.A683_splice	BRD4_ENST00000360016.5_Splice_Site_p.A683_splice|BRD4_ENST00000371835.4_Splice_Site_p.A683_splice	NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	bromodomain containing 4	683					interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle	condensed nuclear chromosome|cytoplasm	protein binding	p.A683V(2)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			AACTTTCTCAGCTGCAATCCA	0.582000			T	C15orf55	lethal midline carcinoma of young people								23	9					0	0	1	0	0
VAV3	10451	broad.mit.edu	37	1	108315358	108315358	+	Splice_Site	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr1:108315358G>T	ENST00000370056.4	-	5	828	c.555_splice	c.e5+1	p.P185_splice	VAV3_ENST00000371846.4_Splice_Site_p.P120_splice|VAV3_ENST00000527011.1_Splice_Site_p.P185_splice|VAV3_ENST00000343258.4_5'UTR	NM_006113.4	NP_006104.4	Q9UKW4	VAV3_HUMAN	vav 3 guanine nucleotide exchange factor	185					angiogenesis|apoptosis|B cell receptor signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of B cell proliferation|regulation of Rho protein signal transduction|response to DNA damage stimulus|response to drug|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity	p.P185H(1)		NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1)	58		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)		AAGTCCTACGGGCTGATGTGC	0.348000													62	23					6.20203e-27	9.03545e-27	1	1	0
PPP1R3A	5506	broad.mit.edu	37	7	113518041	113518041	+	Nonsense_Mutation	SNP	G	G	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr7:113518041G>A	ENST00000284601.3	-	4	3174	c.3106C>T	c.(3106-3108)Caa>Taa	p.Q1036*		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	1036					glycogen metabolic process	integral to membrane		p.Q1036*(1)		NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						TATAGTGATTGCCCAGAGCTT	0.398000													215	310					0	0	1	0	0
SACS	26278	broad.mit.edu	37	13	23909782	23909782	+	Nonsense_Mutation	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr13:23909782C>A	ENST00000382298.3	-	10	8821	c.8233G>T	c.(8233-8235)Gaa>Taa	p.E2745*	SACS_ENST00000402364.1_Nonsense_Mutation_p.E1995*|SACS_ENST00000382292.3_Nonsense_Mutation_p.E2745*	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	2745					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.E2598*(1)|p.E2745*(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)		GAAATTTTTTCCATGTGATTA	0.383000													26	44					8.24728e-16	1.04733e-15	1	1	0
NBN	4683	broad.mit.edu	37	8	90982638	90982638	+	Missense_Mutation	SNP	C	C	G			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr8:90982638C>G	ENST00000265433.3	-	7	1004	c.850G>C	c.(850-852)Gac>Cac	p.D284H	NBN_ENST00000409330.1_Missense_Mutation_p.D202H	NM_002485.4	NP_002476.2	O60934	NBN_HUMAN	nibrin	284					cell cycle arrest|DNA damage response, signal transduction by p53 class mediator|DNA duplex unwinding|double-strand break repair via homologous recombination|meiosis|mitotic cell cycle G1/S transition checkpoint|mitotic cell cycle G2/M transition DNA damage checkpoint|positive regulation of kinase activity|positive regulation of protein autophosphorylation|regulation of DNA-dependent DNA replication initiation|telomere maintenance	Mre11 complex|nuclear chromosome, telomeric region|nuclear inclusion body|nucleolus|nucleoplasm	protein N-terminus binding|transcription factor binding	p.D284H(1)		autonomic_ganglia(1)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27			BRCA - Breast invasive adenocarcinoma(11;0.0344)			TTCTGACAGTCAGGAATTAAG	0.333000								Homologous recombination					44	99					0	0	1	0	0
ANLN	54443	broad.mit.edu	37	7	36462361	36462361	+	Missense_Mutation	SNP	T	T	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr7:36462361T>A	ENST00000265748.2	+	14	2640	c.2419T>A	c.(2419-2421)Tca>Aca	p.S807T	ANLN_ENST00000396068.2_Missense_Mutation_p.S770T	NM_018685.2	NP_061155.2	Q9NQW6	ANLN_HUMAN	anillin, actin binding protein	807	Localization to the cleavage furrow.				cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly	actomyosin contractile ring|nucleus	actin binding	p.S807T(1)		breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2)	45						AGTTACTTTGTCAGAAATCCG	0.388000													30	153					0	0	1	0	0
IFIH1	64135	broad.mit.edu	37	2	163133431	163133431	+	Silent	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr2:163133431C>A	ENST00000263642.2	-	11	2465	c.2070G>T	c.(2068-2070)ctG>ctT	p.L690L		NM_022168.3	NP_071451.2	Q9BYX4	IFIH1_HUMAN	interferon induced with helicase C domain 1	690					detection of virus|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|regulation of apoptosis	cytosol|nucleus	ATP binding|DNA binding|double-stranded RNA binding|helicase activity|protein binding|ribonucleoprotein binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	39						GGTTTTCAGCCAGCCTTTTCA	0.323000													29	78					2.68265e-12	3.27626e-12	1	1	0
MXD4	10608	broad.mit.edu	37	4	2254171	2254171	+	Silent	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr4:2254171C>A	ENST00000337190.2	-	4	586	c.273G>T	c.(271-273)acG>acT	p.T91T		NM_006454.2	NP_006445.1	Q14582	MAD4_HUMAN	MAX dimerization protein 4	91	Helix-loop-helix motif.				negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|transcription corepressor activity	p.T91T(1)		breast(1)|endometrium(1)|kidney(1)|lung(3)	6						GGAGGCTCAGCGTGGTGTGGC	0.637000													3	6					0.0215528	0.0218188	1	1	0
PER2	8864	broad.mit.edu	37	2	239157728	239157728	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr2:239157728C>A	ENST00000254657.3	-	22	3872	c.3593G>T	c.(3592-3594)gGc>gTc	p.G1198V	AC096574.4_ENST00000456601.1_RNA|PER2_ENST00000254658.3_3'UTR	NM_022817.2	NP_073728.1	O15055	PER2_HUMAN	period circadian clock 2	1198	CRY binding domain (By similarity).				circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|signal transducer activity	p.G1198F(1)		NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)		TGCGGGCAGGCCGCCCGTCTG	0.572000													18	57					2.19962e-31	3.34903e-31	1	1	0
DACH1	1602	broad.mit.edu	37	13	72255996	72255996	+	Missense_Mutation	SNP	G	G	C			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr13:72255996G>C	ENST00000305425.4	-	2	1323	c.901C>G	c.(901-903)Cca>Gca	p.P301A	DACH1_ENST00000313174.7_Missense_Mutation_p.P301A|DACH1_ENST00000359684.2_Missense_Mutation_p.P301A|DACH1_ENST00000354591.4_Missense_Mutation_p.P301A	NM_080759.4	NP_542937.2	Q9UI36	DACH1_HUMAN	dachshund homolog 1 (Drosophila)	299	Interaction with SIX6 and HDAC3 (By similarity).				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|nucleotide binding|protein binding	p.P301A(1)		NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		GAGTTCTCTGGGGAGGTGACA	0.418000													57	41					0	0	1	0	0
TRBV7-1	28597	broad.mit.edu	37	7	142032526	142032526	+	RNA	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr7:142032526G>T	ENST00000547918.2	+	0	379																											CAGCAGCTCAGCCACAGCACT	0.512000													20	35					3.5997e-14	4.51141e-14	1	1	0
LRRIQ1	84125	broad.mit.edu	37	12	85546113	85546113	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr12:85546113C>T	ENST00000393217.2	+	20	4446	c.4385C>T	c.(4384-4386)aCa>aTa	p.T1462I		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	1462								p.T1462I(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		CCTTCACAAACACTGCTTCTT	0.393000													40	95					0	0	1	0	0
KMT2C	58508	broad.mit.edu	37	7	151919678	151919678	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr7:151919678G>T	ENST00000355193.2	-	21	3631	c.3413C>A	c.(3412-3414)cCc>cAc	p.P1138H	KMT2C_ENST00000262189.6_Missense_Mutation_p.P1138H					lysine (K)-specific methyltransferase 2C									p.P1138H(2)									AGGCATATAGGGTCTGCACAT	0.398000													16	62					3.41278e-10	4.00601e-10	1	1	0
MYL4	4635	broad.mit.edu	37	17	45299121	45299121	+	Silent	SNP	G	G	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr17:45299121G>A	ENST00000354968.1	+	5	515	c.387G>A	c.(385-387)caG>caA	p.Q129Q	MYL4_ENST00000393450.1_Silent_p.Q129Q|MYL4_ENST00000572316.1_Silent_p.Q129Q	NM_001002841.1	NP_001002841.1	P12829	MYL4_HUMAN	myosin, light chain 4, alkali; atrial, embryonic	129					cardiac muscle contraction|muscle filament sliding|muscle organ development|positive regulation of ATPase activity|regulation of the force of heart contraction	A band|cytosol|muscle myosin complex	actin filament binding|actin monomer binding|calcium ion binding|myosin II heavy chain binding|structural constituent of muscle	p.Q129Q(1)		endometrium(2)|large_intestine(1)|lung(4)|ovary(3)|prostate(1)	11						ACAAGGAGCAGGGCACCTATG	0.557000													5	126					0	0	1	0	0
CACNA2D1	781	broad.mit.edu	37	7	81964549	81964549	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr7:81964549C>A	ENST00000356860.3	-	3	534	c.196G>T	c.(196-198)Gat>Tat	p.D66Y	CACNA2D1_ENST00000423588.1_Missense_Mutation_p.D66Y|CACNA2D1_ENST00000356253.5_Missense_Mutation_p.D66Y	NM_000722.2	NP_000713.2	P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	66						voltage-gated calcium channel complex	metal ion binding	p.D66Y(1)		breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)	GTATACAAATCTTGATATTTC	0.353000													16	97					0.000229342	0.000241989	1	1	0
SLC26A8	116369	broad.mit.edu	37	6	35918953	35918953	+	Nonsense_Mutation	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr6:35918953G>T	ENST00000490799.1	-	19	2812	c.2459C>A	c.(2458-2460)tCa>tAa	p.S820*	SLC26A8_ENST00000355574.2_Nonsense_Mutation_p.S820*|SLC26A8_ENST00000394602.2_Nonsense_Mutation_p.S715*	NM_052961.3	NP_443193.1	Q96RN1	S26A8_HUMAN	solute carrier family 26 (anion exchanger), member 8	820	Interaction with RACGAP1.				cell differentiation|meiosis|multicellular organismal development|spermatogenesis	integral to membrane|plasma membrane	anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity	p.S820*(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						GTCTGTTTCTGAGTAGGTTTC	0.552000													92	97					1.9643e-79	3.59078e-79	1	1	0
IPO8	10526	broad.mit.edu	37	12	30837254	30837254	+	Silent	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr12:30837254G>T	ENST00000256079.4	-	3	642	c.304C>A	c.(304-306)Cgg>Agg	p.R102R		NM_006390.3	NP_006381.2	O15397	IPO8_HUMAN	importin 8	102	Importin N-terminal.				intracellular protein transport|signal transduction	cytoplasm|nucleus	protein transporter activity|Ran GTPase binding	p.R102R(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(16)|liver(1)|lung(22)|prostate(2)|skin(2)|urinary_tract(2)	52	all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					TCTGGAGACCGAATTATTCCT	0.418000													97	195					8.73416e-63	1.56669e-62	1	1	0
SRRM2	23524	broad.mit.edu	37	16	2815970	2815970	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr16:2815970G>T	ENST00000301740.8	+	11	5990	c.5441G>T	c.(5440-5442)cGg>cTg	p.R1814L		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	1814	Arg-rich.|Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding	p.R1814L(1)		breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						ACTCGGCGGCGGAGGGGAGGC	0.617000													4	8					1	1	1	1	0
OR56A4	120793	broad.mit.edu	37	11	6023494	6023494	+	Silent	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr11:6023494C>A	ENST00000330728.4	-	1	930	c.885G>T	c.(883-885)acG>acT	p.T295T		NM_001005179.2	NP_001005179.2	Q8NGH8	O56A4_HUMAN	olfactory receptor, family 56, subfamily A, member 4	243					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T295T(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	32		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGGAACCACACGTGCTCAAGG	0.488000													34	54					1.62957e-23	2.30957e-23	1	1	0
OR5AP2	338675	broad.mit.edu	37	11	56409890	56409890	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr11:56409890C>A	ENST00000544374.1	-	1	57	c.29G>T	c.(28-30)gGc>gTc	p.G10V	OR5AP2_ENST00000302981.1_Missense_Mutation_p.G9V			Q8NGF4	O5AP2_HUMAN	olfactory receptor, family 5, subfamily AP, member 2	9					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G9V(1)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	29						TTGATTTCTGCCTCGAACCTC	0.368000													34	67					4.14481e-20	5.63773e-20	1	1	0
XDH	7498	broad.mit.edu	37	2	31570447	31570447	+	Missense_Mutation	SNP	G	G	C			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr2:31570447G>C	ENST00000379416.3	-	29	3265	c.3217C>G	c.(3217-3219)Ccc>Gcc	p.P1073A		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	1073					purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity	p.P1073A(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	GAGGTGTTGGGCACAGTGTTA	0.562000													34	58					0	0	1	0	0
PCDHA10	56139	broad.mit.edu	37	5	140237084	140237084	+	Missense_Mutation	SNP	A	A	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr5:140237084A>T	ENST00000307360.5	+	1	1451	c.1451A>T	c.(1450-1452)cAg>cTg	p.Q484L	PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000506939.2_Missense_Mutation_p.Q484L|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA7_ENST00000525929.1_Intron	NM_018901.2|NM_031859.1	NP_061724.1|NP_114065.1												p.Q484L(2)		NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGGACGCGCAGGAGAACGCC	0.662000													11	30					0	0	1	0	0
CDC14B	8555	broad.mit.edu	37	9	99285924	99285924	+	Missense_Mutation	SNP	C	C	G			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr9:99285924C>G	ENST00000375241.1	-	10	1481	c.1030G>C	c.(1030-1032)Gtc>Ctc	p.V344L	CDC14B_ENST00000375236.1_Missense_Mutation_p.V344L|CDC14B_ENST00000265659.2_Missense_Mutation_p.V344L|CDC14B_ENST00000375242.3_Missense_Mutation_p.V307L|CDC14B_ENST00000375240.3_Missense_Mutation_p.V344L|CDC14B_ENST00000463569.1_Missense_Mutation_p.V344L	NM_003671.3|NM_033331.2	NP_003662.1|NP_201588.1	O60729	CC14B_HUMAN	cell division cycle 14B	344	B.				activation of anaphase-promoting complex activity|DNA repair|G2/M transition DNA damage checkpoint	nucleolus|nucleoplasm	protein binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.V344L(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)	15		Acute lymphoblastic leukemia(62;0.0559)				CAGATCCTGACCCACGCAATG	0.527000													20	63					0	0	1	0	0
DNAH10	196385	broad.mit.edu	37	12	124297768	124297768	+	Nonsense_Mutation	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr12:124297768G>T	ENST00000409039.3	+	19	2873	c.2848G>T	c.(2848-2850)Gaa>Taa	p.E950*		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	950	Poly-Glu.|Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.E950*(1)|p.E768*(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		GAAGGGGGAGGAAGAGGAAGT	0.393000													49	85					7.34454e-26	1.06191e-25	1	1	0
TRPS1	7227	broad.mit.edu	37	8	116617221	116617221	+	Silent	SNP	T	T	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr8:116617221T>A	ENST00000395715.3	-	4	1552	c.975A>T	c.(973-975)tcA>tcT	p.S325S	TRPS1_ENST00000519076.1_Silent_p.S266S|TRPS1_ENST00000519674.1_Silent_p.S312S|TRPS1_ENST00000220888.5_Silent_p.S312S|TRPS1_ENST00000520276.1_Silent_p.S316S	NM_014112.2	NP_054831.2	Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	312					negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.S325S(1)|p.S312S(1)		autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			ATGTTCCACCTGAAGTCACCT	0.463000									Langer-Giedion syndrome				53	92					0	0	1	0	0
PLEKHH1	57475	broad.mit.edu	37	14	68029127	68029127	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr14:68029127G>T	ENST00000329153.5	+	7	911	c.779G>T	c.(778-780)gGa>gTa	p.G260V		NM_020715.2	NP_065766.1	Q9ULM0	PKHH1_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 1	260						cytoskeleton	binding	p.G299V(1)|p.G260V(1)		endometrium(2)|kidney(4)|lung(12)|urinary_tract(1)	19				all cancers(60;0.000771)|OV - Ovarian serous cystadenocarcinoma(108;0.00502)|BRCA - Breast invasive adenocarcinoma(234;0.011)		CCTCATCTGGGAAGAGAGAGC	0.542000													24	37					1.71298e-08	1.95867e-08	1	1	0
QSOX2	169714	broad.mit.edu	37	9	139115927	139115927	+	Silent	SNP	C	C	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr9:139115927C>T	ENST00000358701.5	-	4	547	c.510G>A	c.(508-510)caG>caA	p.Q170Q		NM_181701.3	NP_859052.3	Q6ZRP7	QSOX2_HUMAN	quiescin Q6 sulfhydryl oxidase 2	170	Thioredoxin.				cell redox homeostasis	extracellular region|integral to membrane|nuclear membrane|plasma membrane	thiol oxidase activity	p.Q170Q(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)	22		Myeloproliferative disorder(178;0.0511)		Epithelial(140;7.78e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.55e-07)		CAATCATCGTCTGTCTGACTG	0.627000													16	25					0	0	1	0	0
RPGRIP1L	23322	broad.mit.edu	37	16	53726179	53726179	+	Missense_Mutation	SNP	C	C	G			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr16:53726179C>G	ENST00000262135.4	-	4	421	c.328G>C	c.(328-330)Gaa>Caa	p.E110Q	RPGRIP1L_ENST00000564374.1_Missense_Mutation_p.E110Q|RPGRIP1L_ENST00000379925.3_Missense_Mutation_p.E110Q|RPGRIP1L_ENST00000563746.1_Missense_Mutation_p.E110Q	NM_001127897.1	NP_001121369.1	Q68CZ1	FTM_HUMAN	RPGRIP1-like	110					negative regulation of G-protein coupled receptor protein signaling pathway	cell-cell junction|centrosome|cilium axoneme|microtubule basal body	thromboxane A2 receptor binding	p.E110Q(1)		endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2)	46		all_cancers(37;0.0973)				TCAATCATTTCTTCCATTTCC	0.448000													15	106					0	0	1	0	0
OR5P3	120066	broad.mit.edu	37	11	7846682	7846682	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr11:7846682C>A	ENST00000328375.1	-	1	837	c.838G>T	c.(838-840)Gtg>Ttg	p.V280L	RP11-35J10.5_ENST00000527565.1_lincRNA	NM_153445.1	NP_703146.1	Q8WZ94	OR5P3_HUMAN	olfactory receptor, family 5, subfamily P, member 3	280					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V280L(1)		autonomic_ganglia(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)	15				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GGAATCACCACGGTGTAGAAC	0.453000													27	119					8.88839e-20	1.20046e-19	1	1	0
OVCH1	341350	broad.mit.edu	37	12	29624753	29624753	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr12:29624753G>A	ENST00000318184.5	-	16	1837	c.1838C>T	c.(1837-1839)gCa>gTa	p.A613V	OVCH1-AS1_ENST00000549411.1_Intron|OVCH1-AS1_ENST00000551108.1_Intron	NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1	613	Peptidase S1 2.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity	p.A613V(1)		NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					ACAGTGGGCTGCGGTCAGAAT	0.493000													37	53					0	0	1	0	0
CACNA1E	777	broad.mit.edu	37	1	181684527	181684527	+	Splice_Site	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr1:181684527G>T	ENST00000526775.1	+	9	1390	c.1225_splice	c.e9+1	p.V409_splice	CACNA1E_ENST00000367573.2_Splice_Site_p.V409_splice|CACNA1E_ENST00000367570.1_Splice_Site_p.V409_splice|CACNA1E_ENST00000367567.4_Splice_Site_p.V16_splice|CACNA1E_ENST00000360108.3_Splice_Site_p.V409_splice|CACNA1E_ENST00000357570.5_Splice_Site_p.V360_splice|CACNA1E_ENST00000358338.5_Splice_Site_p.V360_splice	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	409					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.V409L(2)		NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						CGCCTTAGAAGGTAAGGAAAT	0.383000													6	28					0.000157383	0.000166675	1	1	0
DDC	1644	broad.mit.edu	37	7	50563117	50563117	+	Splice_Site	SNP	T	T	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr7:50563117T>A	ENST00000444124.2	-	9	1077		c.e9-2		DDC_ENST00000380984.4_Splice_Site|DDC_ENST00000431062.1_Splice_Site|DDC_ENST00000426377.1_Splice_Site|DDC_ENST00000357936.5_Splice_Site	NM_001082971.1	NP_001076440.1	P20711	DDC_HUMAN	dopa decarboxylase (aromatic L-amino acid decarboxylase)						cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion	cytosol	aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding	p.?(2)		breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1)	40	Glioma(55;0.08)|all_neural(89;0.245)				Amantadine(DB00915)|Carbidopa(DB00190)|Flupenthixol(DB00875)|L-Tryptophan(DB00150)|Levodopa(DB01235)|Pimozide(DB01100)|Pyridoxal Phosphate(DB00114)|Remoxipride(DB00409)	ATCTGCAAACTGCCAAAGAAC	0.338000													12	37					0	0	1	0	0
ATP10B	23120	broad.mit.edu	37	5	160076224	160076224	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr5:160076224C>T	ENST00000327245.5	-	8	1561	c.715G>A	c.(715-717)Gtg>Atg	p.V239M		NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	239					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	p.V239M(1)		NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TTCTCACACACGATGGTATTG	0.408000													17	81					0	0	1	0	0
MUC4	4585	broad.mit.edu	37	3	195516223	195516223	+	Missense_Mutation	SNP	G	G	C			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr3:195516223G>C	ENST00000463781.3	-	2	2687	c.2228C>G	c.(2227-2229)tCt>tGt	p.S743C	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.S743C|MUC4_ENST00000346145.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	748					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	p.S743C(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		TGACACTACAGAGTTGGCCAG	0.602000													13	8					0	0	1	0	0
PDE10A	10846	broad.mit.edu	37	6	165806140	165806140	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr6:165806140G>A	ENST00000366882.1	-	17	1775	c.1621C>T	c.(1621-1623)Ctt>Ttt	p.L541F	PDE10A_ENST00000539869.2_Missense_Mutation_p.L551F|PDE10A_ENST00000354448.4_Missense_Mutation_p.L541F			Q9Y233	PDE10_HUMAN	phosphodiesterase 10A	541					platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding	p.L541F(1)		breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Dipyridamole(DB00975)	CCCACCTCAAGGTCTGTGAAA	0.458000													109	312					0	0	1	0	0
ATP1B3	483	broad.mit.edu	37	3	141632604	141632604	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr3:141632604G>T	ENST00000539728.1	+	5	708	c.415G>T	c.(415-417)Gca>Tca	p.A139S	ATP1B3_ENST00000286371.3_Missense_Mutation_p.A153S|ATP1B3_ENST00000462082.1_Intron			P54709	AT1B3_HUMAN	ATPase, Na+/K+ transporting, beta 3 polypeptide	153					ATP biosynthetic process|blood coagulation|leukocyte migration	melanosome|sodium:potassium-exchanging ATPase complex	protein binding|sodium:potassium-exchanging ATPase activity	p.A153S(1)		cervix(1)|endometrium(1)|lung(2)	4						ATTACTTCAAGCATGCAGTGG	0.398000													134	69					1.47408e-88	2.71193e-88	1	1	0
XPOT	11260	broad.mit.edu	37	12	64819617	64819617	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr12:64819617G>T	ENST00000332707.5	+	15	2124	c.1595G>T	c.(1594-1596)gGt>gTt	p.G532V		NM_007235.4	NP_009166.2	O43592	XPOT_HUMAN	exportin, tRNA	532	Necessary for tRNA-binding, cytoplasmic localization and nuclear export.				intracellular protein transport|tRNA export from nucleus	cytoplasm|nucleoplasm	protein transporter activity|tRNA binding	p.G532V(1)		NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				GBM - Glioblastoma multiforme(28;0.0404)		GATCACAGAGGTCTGCGGCAT	0.373000													62	169					1.10345e-40	1.83059e-40	1	1	0
PRKDC	5591	broad.mit.edu	37	8	48855770	48855770	+	Splice_Site	SNP	T	T	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr8:48855770T>A	ENST00000314191.2	-	10	1021	c.966_splice	c.e10+1	p.Q322_splice	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Splice_Site_p.Q322_splice	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	322					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding	p.Q322L(2)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				TTGTGGTACCTGTTTCAGAAA	0.353000								Non-homologous end-joining					22	8					0	0	1	0	0
FAP	2191	broad.mit.edu	37	2	163082062	163082062	+	Silent	SNP	T	T	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr2:163082062T>A	ENST00000188790.4	-	4	423	c.216A>T	c.(214-216)gcA>gcT	p.A72A	FAP_ENST00000443424.1_Silent_p.A72A	NM_004460.2	NP_004451.2	Q12884	SEPR_HUMAN	fibroblast activation protein, alpha	72					endothelial cell migration|negative regulation of extracellular matrix disassembly|proteolysis	cell junction|integral to membrane|invadopodium membrane|lamellipodium membrane	dipeptidyl-peptidase activity|metalloendopeptidase activity|protein homodimerization activity|serine-type endopeptidase activity	p.A72A(1)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)	63						TATTGTTATCTGCAGATTGAT	0.303000													29	49					0	0	1	0	0
CBX2	84733	broad.mit.edu	37	17	77757733	77757733	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr17:77757733G>T	ENST00000310942.4	+	5	595	c.491G>T	c.(490-492)cGg>cTg	p.R164L		NM_005189.2	NP_005180.1	Q14781	CBX2_HUMAN	chromobox homolog 2	164					cell differentiation|chromatin modification|development of primary sexual characteristics|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	PcG protein complex	DNA binding	p.R164L(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)	16			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			CGGAAGAAGCGGGGACGAAAG	0.677000													4	1					1.06961e-07	1.20858e-07	1	1	0
TRHDE	29953	broad.mit.edu	37	12	72680664	72680664	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr12:72680664C>T	ENST00000261180.4	+	2	1079	c.983C>T	c.(982-984)tCc>tTc	p.S328F		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	328					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding	p.S328F(1)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						CCTCTCATGTCCACATATTAT	0.398000													46	94					0	0	1	0	0
LRRC40	55631	broad.mit.edu	37	1	70652948	70652948	+	Splice_Site	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr1:70652948C>A	ENST00000370952.3	-	3	486	c.407_splice	c.e3+1	p.S136_splice		NM_017768.4	NP_060238.3	Q9H9A6	LRC40_HUMAN	leucine rich repeat containing 40	136								p.S136I(1)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(2)	27						TAATTTTTACCTGACATTAAG	0.249000													15	9					5.03518e-11	6.00872e-11	1	1	0
SEC24B	10427	broad.mit.edu	37	4	110448546	110448546	+	Nonsense_Mutation	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr4:110448546G>T	ENST00000265175.5	+	18	3089	c.3034G>T	c.(3034-3036)Gga>Tga	p.G1012*	SEC24B_ENST00000504968.2_Nonsense_Mutation_p.G1042*|SEC24B_ENST00000399100.2_Nonsense_Mutation_p.G977*	NM_006323.2	NP_006314.2	O95487	SC24B_HUMAN	SEC24 family member B	1012					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|transporter activity|zinc ion binding	p.G977*(1)|p.G1012*(1)		breast(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)		TGTATATGCGGGAGTGGATGT	0.368000													55	58					1.38705e-31	2.11747e-31	1	1	0
FAM171B	165215	broad.mit.edu	37	2	187625877	187625877	+	Silent	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr2:187625877C>A	ENST00000304698.5	+	7	1253	c.1050C>A	c.(1048-1050)gcC>gcA	p.A350A		NM_177454.3	NP_803237.3	Q6P995	F171B_HUMAN	family with sequence similarity 171, member B	350						integral to membrane	DNA binding	p.A350A(1)		NS(1)|breast(6)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(22)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						ACATAACTGCCTACCACACAG	0.338000													38	70					1.56793e-16	2.0089e-16	1	1	0
TEX10	54881	broad.mit.edu	37	9	103088600	103088600	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr9:103088600C>A	ENST00000374902.4	-	9	2139	c.1963G>T	c.(1963-1965)Ggg>Tgg	p.G655W	TEX10_ENST00000535814.1_Missense_Mutation_p.G658W	NM_017746.3	NP_060216.2	Q9NXF1	TEX10_HUMAN	testis expressed 10	655						integral to membrane|MLL1 complex|nuclear membrane|nucleolus	binding	p.G655W(1)		NS(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	38		Acute lymphoblastic leukemia(62;0.0527)		OV - Ovarian serous cystadenocarcinoma(323;0.157)		TGCAGTATCCCGATAAGCATG	0.418000													38	137					5.34276e-22	7.49815e-22	1	1	0
IL7R	3575	broad.mit.edu	37	5	35876346	35876346	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr5:35876346C>A	ENST00000303115.3	+	8	1267	c.1138C>A	c.(1138-1140)Cct>Act	p.P380T	IL7R_ENST00000343305.4_3'UTR	NM_002185.3	NP_002176.2	P16871	IL7RA_HUMAN	interleukin 7 receptor	380					immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity	p.P380T(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			ATGTGACGCCCCTATTCTCTC	0.537000			"""Mis, O"""		"""ALL, ETP ALL"""		Severe combined immune deficiency						31	69					3.78316e-11	4.53347e-11	1	1	0
ATP12A	479	broad.mit.edu	37	13	25264583	25264583	+	Silent	SNP	C	C	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr13:25264583C>T	ENST00000218548.6	+	6	987	c.654C>T	c.(652-654)atC>atT	p.I218I	ATP12A_ENST00000381946.3_Silent_p.I218I	NM_001185085.1|NM_001676.5	NP_001172014.1|NP_001667.4	P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	218					ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding	p.I218I(1)		breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	Esomeprazole(DB00736)|Pantoprazole(DB00213)	CTGCAGACATCAGGGTGCTGT	0.572000													15	132					0	0	1	0	0
TLR8	51311	broad.mit.edu	37	X	12940213	12940213	+	Silent	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chrX:12940213G>T	ENST00000218032.6	+	2	3141	c.3054G>T	c.(3052-3054)ctG>ctT	p.L1018L	TLR8_ENST00000311912.5_Silent_p.L1036L	NM_138636.4	NP_619542.1	Q9NR97	TLR8_HUMAN	toll-like receptor 8	1018	TIR.				cellular response to mechanical stimulus|defense response to virus|I-kappaB kinase/NF-kappaB cascade|immunoglobulin mediated immune response|inflammatory response|innate immune response|positive regulation of innate immune response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process	endosome membrane	DNA binding|double-stranded RNA binding|single-stranded RNA binding|transmembrane receptor activity			breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						GGCAAACTCTGAGAAATGTGG	0.443000													8	242					2.17888e-05	2.35089e-05	1	1	0
ZNF398	57541	broad.mit.edu	37	7	148876178	148876178	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr7:148876178G>T	ENST00000420008.2	+	6	1489	c.701G>T	c.(700-702)aGg>aTg	p.R234M	ZNF398_ENST00000540950.1_Missense_Mutation_p.R410M|ZNF398_ENST00000475153.1_Missense_Mutation_p.R405M|ZNF398_ENST00000483892.1_Missense_Mutation_p.R234M|ZNF398_ENST00000491174.1_Missense_Mutation_p.R234M|ZNF398_ENST00000426851.2_Missense_Mutation_p.R234M|ZNF398_ENST00000335901.4_Missense_Mutation_p.R234M	NM_170686.2	NP_733787.1	Q8TD17	ZN398_HUMAN	zinc finger protein 398	405					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R405M(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)	25	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00143)			CACTGTGCCAGGACTTTTACT	0.582000													59	54					4.83248e-46	8.15837e-46	1	1	0
ADAM32	203102	broad.mit.edu	37	8	39027483	39027483	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr8:39027483G>T	ENST00000379907.4	+	10	1009	c.882G>T	c.(880-882)atG>atT	p.M294I	ADAM32_ENST00000519315.1_Missense_Mutation_p.M294I|ADAM32_ENST00000437682.2_Missense_Mutation_p.M301I	NM_145004.5	NP_659441.3	Q8TC27	ADA32_HUMAN	ADAM metallopeptidase domain 32	294	Peptidase M12B.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding	p.M293I(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	31		all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503)	LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146)			CTGGAACAATGTGTATTACTC	0.244000													64	38					1.11883e-47	1.90002e-47	1	1	0
DDI1	414301	broad.mit.edu	37	11	103908205	103908205	+	Silent	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr11:103908205C>A	ENST00000302259.3	+	1	898	c.655C>A	c.(655-657)Cgg>Agg	p.R219R	PDGFD_ENST00000302251.5_Intron|PDGFD_ENST00000393158.2_Intron	NM_001001711.2	NP_001001711.1	Q8WTU0	DDI1_HUMAN	DNA-damage inducible 1 homolog 1 (S. cerevisiae)	219					proteolysis		aspartic-type endopeptidase activity	p.R219R(2)		central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)		AGAGGAAATCCGGCAGCAAAA	0.483000													20	32					7.33628e-21	1.00742e-20	1	1	0
OR2F2	135948	broad.mit.edu	37	7	143633237	143633237	+	Silent	SNP	A	A	G			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr7:143633237A>G	ENST00000408955.2	+	1	979	c.912A>G	c.(910-912)ctA>ctG	p.L304L		NM_001004685.1	NP_001004685.1	O95006	OR2F2_HUMAN	olfactory receptor, family 2, subfamily F, member 2	304					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L304L(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(19)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	32	Melanoma(164;0.0903)					GGCATAAACTATTAGAGAAAT	0.418000													16	63					0	0	1	0	0
ZPBP2	124626	broad.mit.edu	37	17	38033026	38033026	+	Silent	SNP	A	A	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr17:38033026A>T	ENST00000377940.3	+	7	1054	c.915A>T	c.(913-915)ccA>ccT	p.P305P	ZPBP2_ENST00000348931.4_Silent_p.P327P|ZPBP2_ENST00000584588.1_Silent_p.P254P	NM_198844.2	NP_942141.2	Q6X784	ZPBP2_HUMAN	zona pellucida binding protein 2	327					binding of sperm to zona pellucida	extracellular region		p.P327P(1)		kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	15	Colorectal(19;0.000442)		Lung(15;0.00849)|LUSC - Lung squamous cell carcinoma(15;0.171)			AATCTTGCCCACAAACTTCAA	0.418000													47	156					0	0	1	0	0
KRTAP4-4	84616	broad.mit.edu	37	17	39316831	39316831	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr17:39316831G>T	ENST00000390661.3	-	1	152	c.113C>A	c.(112-114)cCc>cAc	p.P38H		NM_032524.1	NP_115913.1	Q9BYR3	KRA44_HUMAN	keratin associated protein 4-4	38	26 X 5 AA repeats of C-C-[GRQVCH]-[SPT]- [VSTQR].					keratin filament		p.P38H(1)		kidney(1)|large_intestine(1)|lung(5)	7		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			ACAGCAGCTGGGGCGGCAGCA	0.652000													40	59					3.76287e-55	6.62542e-55	1	1	0
CMA1	1215	broad.mit.edu	37	14	24974789	24974789	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr14:24974789G>T	ENST00000250378.3	-	5	706	c.677C>A	c.(676-678)cCc>cAc	p.P226H	RP11-80A15.1_ENST00000555109.1_Intron|CMA1_ENST00000206446.4_Missense_Mutation_p.P115H	NM_001836.3	NP_001827.1	P23946	CMA1_HUMAN	chymase 1, mast cell	226	Peptidase S1.				interleukin-1 beta biosynthetic process|proteolysis	extracellular region	serine-type endopeptidase activity	p.P226H(1)		kidney(1)|lung(8)|pancreas(1)|prostate(1)	11				GBM - Glioblastoma multiforme(265;0.0271)		GACAGCAGGGGGCTTTGCATC	0.587000													56	47					1.41257e-51	2.42759e-51	1	1	0
TNN	63923	broad.mit.edu	37	1	175086125	175086125	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr1:175086125G>T	ENST00000239462.4	+	10	2283	c.2170G>T	c.(2170-2172)Gcc>Tcc	p.A724S		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	724	Fibronectin type-III 6.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix		p.A724S(1)		NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		AGAGAATATGGCCACTGTCTC	0.537000													54	65					7.92265e-33	1.22577e-32	1	1	0
RAP2C	57826	broad.mit.edu	37	X	131351048	131351048	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chrX:131351048G>T	ENST00000342983.2	-	2	995	c.249C>A	c.(247-249)agC>agA	p.S83R	RAP2C_ENST00000460462.1_5'UTR|RAP2C_ENST00000370874.1_Missense_Mutation_p.S83R	NM_001271186.1|NM_001271187.1|NM_021183.3	NP_001258115.1|NP_001258116.1|NP_067006.3	Q9Y3L5	RAP2C_HUMAN	RAP2C, member of RAS oncogene family	83					negative regulation of cell migration|positive regulation of protein autophosphorylation|Rap protein signal transduction|regulation of protein tyrosine kinase activity	recycling endosome membrane	GTP binding|GTPase activity	p.S83R(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|ovary(1)|upper_aerodigestive_tract(2)	8	Acute lymphoblastic leukemia(192;0.000127)					GATTAACCAGGCTATAAACCA	0.468000													3	52					0.00909568	0.00927339	1	1	0
SATB2	23314	broad.mit.edu	37	2	200173625	200173625	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr2:200173625G>T	ENST00000443023.1	-	9	2886	c.1421C>A	c.(1420-1422)aCc>aAc	p.T474N	SATB2_ENST00000457245.1_Missense_Mutation_p.T533N|SATB2_ENST00000428695.1_Missense_Mutation_p.T415N|SATB2_ENST00000417098.1_Missense_Mutation_p.T533N|SATB2_ENST00000260926.5_Missense_Mutation_p.T533N			Q9UPW6	SATB2_HUMAN	SATB homeobox 2	533						cytoplasm|nuclear matrix	sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						TTCCCAGAGGGTGCGGTTTTC	0.552000													27	47					2.20474e-14	2.77526e-14	1	1	0
MLKL	197259	broad.mit.edu	37	16	74708939	74708939	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr16:74708939C>A	ENST00000308807.7	-	10	1763	c.1300G>T	c.(1300-1302)Ggt>Tgt	p.G434C	MLKL_ENST00000306247.7_Missense_Mutation_p.G226C	NM_152649.2	NP_689862.1	Q8NB16	MLKL_HUMAN	mixed lineage kinase domain-like	434	Protein kinase.						ATP binding|protein binding|protein kinase activity	p.G434C(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(6)|skin(1)|stomach(2)	19						CAGTCTTCACCCAGTGGCTCC	0.552000													9	40					1.15919e-05	1.25779e-05	1	1	0
XYLT1	64131	broad.mit.edu	37	16	17221646	17221646	+	Silent	SNP	G	G	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr16:17221646G>A	ENST00000261381.6	-	10	2184	c.2100C>T	c.(2098-2100)atC>atT	p.I700I		NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	700					glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity	p.I700I(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CATGATGCTTGATCAGAAAGC	0.517000													60	195					0	0	1	0	0
LRRC23	10233	broad.mit.edu	37	12	7023108	7023108	+	Missense_Mutation	SNP	A	A	G			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr12:7023108A>G	ENST00000323702.5	+	7	924	c.812A>G	c.(811-813)cAc>cGc	p.H271R	LRRC23_ENST00000429740.1_Missense_Mutation_p.T182A|LRRC23_ENST00000443597.2_3'UTR|LRRC23_ENST00000436789.1_3'UTR|LRRC23_ENST00000007969.8_3'UTR	NM_006992.3	NP_008923.1	Q53EV4	LRC23_HUMAN	leucine rich repeat containing 23	0								p.H271R(1)		NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|stomach(1)	13						GGCAGCCACCACATGTATGAC	0.547000													42	89					0	0	1	0	0
TENM1	10178	broad.mit.edu	37	X	123518364	123518364	+	Silent	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chrX:123518364G>T	ENST00000422452.2	-	30	6480	c.6417C>A	c.(6415-6417)cgC>cgA	p.R2139R	STAG2_ENST00000469481.1_Intron|TENM1_ENST00000371130.3_Silent_p.R2132R	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1									p.R2134R(1)									ATATTACCATGCGGCCCACAT	0.398000													178	129					9.38108e-128	1.77714e-127	1	1	0
CARD11	84433	broad.mit.edu	37	7	2976689	2976689	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr7:2976689G>T	ENST00000396946.4	-	9	1726	c.1323C>A	c.(1321-1323)gaC>gaA	p.D441E		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	441					positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity	p.D434E(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		GGTTGTTGCTGTCCTTGGAGA	0.672000			Mis		DLBCL								14	12					7.05477e-17	9.09985e-17	1	1	0
GRM5	2915	broad.mit.edu	37	11	88780774	88780774	+	Silent	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr11:88780774G>T	ENST00000418177.2	-	2	634	c.267C>A	c.(265-267)atC>atA	p.I89I	GRM5_ENST00000305447.4_Silent_p.I89I|GRM5_ENST00000393294.3_Silent_p.I89I|GRM5_ENST00000455756.2_Silent_p.I89I|GRM5_ENST00000305432.5_Silent_p.I89I|GRM5_ENST00000393297.1_Silent_p.I89I			P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	89					activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	p.I89I(2)		NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	AGCCCAGTGTGATGTTGGGCA	0.527000													15	16					0.000132079	0.000140135	1	1	0
SAMD9	54809	broad.mit.edu	37	7	92734038	92734038	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr7:92734038C>A	ENST00000379958.2	-	3	1642	c.1373G>T	c.(1372-1374)aGc>aTc	p.S458I		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	458						cytoplasm		p.S458I(1)		NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			TGCTACTCGGCTTTCTTTGTA	0.383000													9	42					1.08611e-07	1.22481e-07	1	1	0
SEMA5A	9037	broad.mit.edu	37	5	9190417	9190417	+	Missense_Mutation	SNP	C	C	G			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr5:9190417C>G	ENST00000382496.5	-	11	1900	c.1235G>C	c.(1234-1236)gGc>gCc	p.G412A		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	412	Sema.				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane		p.G412A(1)		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						CGCTTCTCTGCCCTGCACCAC	0.522000													11	47					0	0	1	0	0
ASXL3	80816	broad.mit.edu	37	18	31325156	31325156	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr18:31325156C>A	ENST00000269197.5	+	12	5344	c.5344C>A	c.(5344-5346)Ctt>Att	p.L1782I		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	1782					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding	p.L1782I(1)		breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						TCCATTGCCTCTTCAAACTAC	0.507000													25	71					3.17567e-06	3.49202e-06	1	1	0
GRIA1	2890	broad.mit.edu	37	5	153085295	153085295	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr5:153085295G>T	ENST00000285900.5	+	11	1834	c.1491G>T	c.(1489-1491)ttG>ttT	p.L497F	GRIA1_ENST00000448073.4_Missense_Mutation_p.L507F|GRIA1_ENST00000518783.1_Missense_Mutation_p.L507F|GRIA1_ENST00000521843.2_Missense_Mutation_p.L428F|GRIA1_ENST00000340592.5_Missense_Mutation_p.L497F|GRIA1_ENST00000518142.1_Missense_Mutation_p.L417F	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	497					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding	p.L497F(2)|p.I495fs*19(2)		NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	CTATCACTTTGGTCCGGGAAG	0.388000													4	12					0.00024832	0.000261054	1	1	0
TDP2	51567	broad.mit.edu	37	6	24667094	24667094	+	Silent	SNP	C	C	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr6:24667094C>T	ENST00000545995.1	-	1	86	c.87G>A	c.(85-87)agG>agA	p.R29R	TDP2_ENST00000378198.4_5'UTR	NM_016614.2	NP_057698.2	O95551	TYDP2_HUMAN	tyrosyl-DNA phosphodiesterase 2	0					cell surface receptor linked signaling pathway|double-strand break repair	PML body	5'-tyrosyl-DNA phosphodiesterase activity|magnesium ion binding|nuclease activity|protein binding|transcription corepressor activity			kidney(2)|large_intestine(1)|lung(5)|ovary(1)	9						ACTCCATCTTCCTGCCGCCTC	0.672000								Direct reversal of damage					6	24					0	0	1	0	0
ENPP2	5168	broad.mit.edu	37	8	120580440	120580440	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr8:120580440C>A	ENST00000427067.2	-	23	2349	c.2169G>T	c.(2167-2169)atG>atT	p.M723I	ENPP2_ENST00000075322.6_Missense_Mutation_p.M702I|ENPP2_ENST00000259486.6_Missense_Mutation_p.M754I|ENPP2_ENST00000522826.1_Missense_Mutation_p.M727I|ENPP2_ENST00000522167.1_Missense_Mutation_p.M337I			Q13822	ENPP2_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 2	702					cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration	extracellular space|integral to plasma membrane	alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding	p.M754I(1)|p.M727I(1)		breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			ACATTGGAACCATATTGGTTA	0.313000													151	209					8.31651e-93	1.5399e-92	1	1	0
TPTE	7179	broad.mit.edu	37	21	10920156	10920156	+	Silent	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr21:10920156C>A	ENST00000298232.7	-	18	1411	c.1044G>T	c.(1042-1044)ctG>ctT	p.L348L	TPTE_ENST00000342420.5_Silent_p.L328L|TPTE_ENST00000361285.4_Silent_p.L366L|TPTE_ENST00000415664.2_5'UTR	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	366	Phosphatase tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.L366L(2)|p.L348L(2)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CAAAATAATACAGGCTTTCCT	0.383000													12	259					2.23348e-06	2.46542e-06	1	1	0
LSM14A	26065	broad.mit.edu	37	19	34710724	34710724	+	Missense_Mutation	SNP	A	A	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr19:34710724A>T	ENST00000544216.3	+	8	1155	c.1078A>T	c.(1078-1080)Aat>Tat	p.N360Y	LSM14A_ENST00000540746.2_Missense_Mutation_p.N319Y|LSM14A_ENST00000433627.5_Missense_Mutation_p.N360Y	NM_015578.2	NP_056393.2	Q8ND56	LS14A_HUMAN	LSM14A, SCD6 homolog A (S. cerevisiae)	360					cytoplasmic mRNA processing body assembly|multicellular organismal development|regulation of translation	cytoplasmic mRNA processing body|intracellular membrane-bounded organelle|stress granule		p.N360Y(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(7)|skin(1)	22	Esophageal squamous(110;0.162)					ACTTGGACCTAATTGCTATTA	0.348000													36	41					0	0	1	0	0
GRM8	2918	broad.mit.edu	37	7	126173844	126173844	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr7:126173844C>T	ENST00000339582.2	-	9	2400	c.1592G>A	c.(1591-1593)gGg>gAg	p.G531E	GRM8_ENST00000444921.2_Missense_Mutation_p.G531E|GRM8_ENST00000480995.1_Intron|GRM8_ENST00000358373.3_Missense_Mutation_p.G531E			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	531					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane		p.G531E(1)		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)	GCAAGGGACCCCTTTCACCGT	0.552000										HNSCC(24;0.065)			16	86					0	0	1	0	0
F5	2153	broad.mit.edu	37	1	169513566	169513566	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr1:169513566C>T	ENST00000367796.3	-	12	2159	c.1958G>A	c.(1957-1959)gGa>gAa	p.G653E	F5_ENST00000367797.3_Missense_Mutation_p.G648E			P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	648	F5/8 type A 2.|Plastocyanin-like 4.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity	p.G648E(1)		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)	CACAGATTCTCCACGCATGGG	0.478000													54	229					0	0	1	0	0
NCOA7	135112	broad.mit.edu	37	6	126210971	126210971	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr6:126210971G>T	ENST00000368357.3	+	10	2123	c.1771G>T	c.(1771-1773)Gta>Tta	p.V591L	NCOA7_ENST00000229634.9_Missense_Mutation_p.V476L|NCOA7_ENST00000392477.2_Missense_Mutation_p.V591L	NM_001199619.1|NM_001199620.1	NP_001186548.1|NP_001186549.1	Q8NI08	NCOA7_HUMAN	nuclear receptor coactivator 7	591					cell wall macromolecule catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	p.V591L(1)		NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(2)	39				UCEC - Uterine corpus endometrioid carcinoma (4;0.0803)|GBM - Glioblastoma multiforme(226;0.0193)|all cancers(137;0.237)		GCCCCTCCCGGTAAAACTGAA	0.468000													20	34					3.5997e-14	4.51141e-14	1	1	0
INSRR	3645	broad.mit.edu	37	1	156812834	156812834	+	Nonsense_Mutation	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr1:156812834C>A	ENST00000368195.3	-	17	3484	c.3088G>T	c.(3088-3090)Gaa>Taa	p.E1030*	NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	1030	Protein kinase.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity	p.E1030*(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					ACAGAAGCTTCCTTGAGGAAC	0.527000													42	49					1.0096e-33	1.57476e-33	1	1	0
CC2D1B	200014	broad.mit.edu	37	1	52821917	52821917	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr1:52821917C>A	ENST00000371586.2	-	18	2151	c.2013G>T	c.(2011-2013)caG>caT	p.Q671H	CC2D1B_ENST00000284376.3_Missense_Mutation_p.Q665H|CC2D1B_ENST00000438831.1_Missense_Mutation_p.Q46H|CC2D1B_ENST00000460261.1_5'UTR	NM_032449.2	NP_115825.1	Q5T0F9	C2D1B_HUMAN	coiled-coil and C2 domain containing 1B	671								p.Q671H(1)		breast(1)|large_intestine(6)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	27						GGCCCTGAGCCTGGGCCAGCT	0.567000													26	92					5.60225e-13	6.91546e-13	1	1	0
SLC5A4	6527	broad.mit.edu	37	22	32620393	32620393	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr22:32620393C>A	ENST00000266086.4	-	13	1537	c.1526G>T	c.(1525-1527)gGg>gTg	p.G509V	RP1-90G24.10_ENST00000434942.1_RNA	NM_014227.2	NP_055042.1	Q9NY91	SC5A4_HUMAN	solute carrier family 5 (glucose activated ion channel), member 4	509					carbohydrate transport|sodium ion transport	integral to membrane	symporter activity	p.G509V(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|pancreas(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						CAAGCAACTCCCTGTTCCATA	0.458000													9	88					3.45872e-05	3.72477e-05	1	1	0
XIRP1	165904	broad.mit.edu	37	3	39229235	39229235	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr3:39229235G>T	ENST00000340369.3	-	2	1930	c.1702C>A	c.(1702-1704)Cag>Aag	p.Q568K	XIRP1_ENST00000421646.1_Intron|XIRP1_ENST00000396251.1_Missense_Mutation_p.Q568K	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	568	Interaction with CTNNB1 (By similarity).						actin binding	p.Q568K(1)		breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		TGTCGTTCCTGCTGCTCCCGT	0.617000													17	4					2.41591e-17	3.1573e-17	1	1	0
NOL8	55035	broad.mit.edu	37	9	95072852	95072852	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr9:95072852C>A	ENST00000545558.1	-	9	3070	c.2578G>T	c.(2578-2580)Ggc>Tgc	p.G860C	NOL8_ENST00000535387.1_Missense_Mutation_p.G822C|NOL8_ENST00000442668.2_Missense_Mutation_p.G860C|NOL8_ENST00000358855.4_Missense_Mutation_p.G792C|NOL8_ENST00000542053.1_Missense_Mutation_p.G792C			Q76FK4	NOL8_HUMAN	nucleolar protein 8	860					DNA replication|positive regulation of cell growth	nucleolus	nucleotide binding|protein binding|RNA binding	p.G862C(1)|p.G860C(1)		endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	16						CCAGCTCTGCCCTCAAACTGA	0.388000													123	456					1.9257e-63	3.46505e-63	1	1	0
EPHX1	2052	broad.mit.edu	37	1	226016460	226016460	+	Silent	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr1:226016460G>T	ENST00000366837.4	+	2	226	c.30G>T	c.(28-30)gtG>gtT	p.V10V	EPHX1_ENST00000272167.5_Silent_p.V10V	NM_000120.3	NP_000111.1	P07099	HYEP_HUMAN	epoxide hydrolase 1, microsomal (xenobiotic)	10					aromatic compound catabolic process|response to toxin	endoplasmic reticulum membrane|integral to membrane|microsome	cis-stilbene-oxide hydrolase activity|epoxide hydrolase activity	p.V10V(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	28	Breast(184;0.197)					TCACTTCAGTGCTGGGCTTTG	0.597000													4	21					0.014758	0.0149666	1	1	0
KCNK2	3776	broad.mit.edu	37	1	215345403	215345403	+	Missense_Mutation	SNP	T	T	G			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr1:215345403T>G	ENST00000444842.2	+	5	850	c.700T>G	c.(700-702)Tgt>Ggt	p.C234G	KCNK2_ENST00000391894.2_Missense_Mutation_p.C219G|KCNK2_ENST00000391895.2_Missense_Mutation_p.C230G	NM_001017425.2|NM_014217.3	NP_001017425.2|NP_055032.1	O95069	KCNK2_HUMAN	potassium channel, subfamily K, member 2	234							outward rectifier potassium channel activity	p.C234G(1)|p.C219G(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068)	Dofetilide(DB00204)	ACTATTTGGCTGTGTACTCTT	0.393000													94	140					0	0	1	0	0
TNRC6C	57690	broad.mit.edu	37	17	76045357	76045357	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr17:76045357G>A	ENST00000335749.4	+	3	783	c.214G>A	c.(214-216)Gga>Aga	p.G72R	TNRC6C_ENST00000541771.1_Missense_Mutation_p.G72R|TNRC6C_ENST00000588061.1_Missense_Mutation_p.G72R|TNRC6C_ENST00000588847.1_Missense_Mutation_p.G72R|TNRC6C_ENST00000301624.4_Missense_Mutation_p.G72R|TNRC6C_ENST00000544502.1_Missense_Mutation_p.G72R	NM_001142640.1	NP_001136112.1	Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C	72	Sufficient for interaction with argonaute family proteins.				gene silencing by RNA|regulation of translation		nucleotide binding|RNA binding	p.G72R(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			TGGTGGGGATGGAAAAATGGA	0.522000													13	116					0	0	1	0	0
FSHR	2492	broad.mit.edu	37	2	49190064	49190064	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr2:49190064G>T	ENST00000406846.2	-	10	2015	c.1896C>A	c.(1894-1896)aaC>aaA	p.N632K	FSHR_ENST00000304421.4_Missense_Mutation_p.N606K|FSHR_ENST00000346173.3_Missense_Mutation_p.N570K|FSHR_ENST00000541117.1_Missense_Mutation_p.N368K	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	632					female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding	p.N632K(2)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)	CTCTGCGAAAGTTTTTGGTAA	0.463000									Gonadal Dysgenesis, 46 XX				34	76					2.32173e-10	2.7365e-10	1	1	0
AK2	204	broad.mit.edu	37	1	33478994	33478994	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr1:33478994C>T	ENST00000373449.2	-	6	549	c.508G>A	c.(508-510)Gaa>Aaa	p.E170K	AK2_ENST00000548033.1_Missense_Mutation_p.E128K|AK2_ENST00000467905.1_Missense_Mutation_p.E170K|RP1-117O3.2_ENST00000427524.1_RNA|AK2_ENST00000480134.1_3'UTR|AK2_ENST00000354858.6_Missense_Mutation_p.E170K	NM_001199199.1|NM_013411.4	NP_001186128.1|NP_037543.1	P54819	KAD2_HUMAN	adenylate kinase 2	170					nucleobase, nucleoside and nucleotide interconversion	mitochondrial intermembrane space	adenylate kinase activity|ATP binding	p.E170K(2)		kidney(1)|large_intestine(2)|lung(4)|skin(1)	8		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)				ATCAAGGGTTCCCCGGTGATC	0.473000													8	18					0	0	1	0	0
MAML2	84441	broad.mit.edu	37	11	95825768	95825768	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr11:95825768C>A	ENST00000524717.1	-	2	2711	c.1427G>T	c.(1426-1428)gGg>gTg	p.G476V		NM_032427.1	NP_115803.1	Q8IZL2	MAML2_HUMAN	mastermind-like 2 (Drosophila)	476					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity	p.G476V(1)	CRTC3/MAML2(26)|CRTC1/MAML2(516)	breast(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	43		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)				TTTCTCCTGCCCAAATGGACC	0.607000			T	"""MECT1, CRTC3"""	salivary gland mucoepidermoid								37	62					1.32136e-16	1.69677e-16	1	1	0
KIAA0196	9897	broad.mit.edu	37	8	126061389	126061389	+	Silent	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr8:126061389C>A	ENST00000318410.7	-	19	2587	c.2238G>T	c.(2236-2238)gcG>gcT	p.A746A	KIAA0196_ENST00000517845.1_Silent_p.A598A	NM_014846.3	NP_055661.3	Q12768	STRUM_HUMAN	KIAA0196	746					cell death	WASH complex		p.A746A(1)		NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	42	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			CATCCATGGTCGCTCCCAACT	0.398000													59	112					2.47556e-37	4.02542e-37	1	1	0
ASAP2	8853	broad.mit.edu	37	2	9525405	9525405	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr2:9525405C>T	ENST00000281419.3	+	21	2388	c.2048C>T	c.(2047-2049)tCt>tTt	p.S683F	ASAP2_ENST00000315273.4_Missense_Mutation_p.S683F	NM_003887.2	NP_003878.1	O43150	ASAP2_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 2	683					regulation of ARF GTPase activity	Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|protein binding|zinc ion binding	p.S683F(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	36						AGATTTAATTCTCACGTTCAC	0.483000													8	174					0	0	1	0	0
NCKAP5	344148	broad.mit.edu	37	2	133541594	133541594	+	Silent	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr2:133541594C>A	ENST00000409261.1	-	14	3163	c.2790G>T	c.(2788-2790)ccG>ccT	p.P930P	NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000317721.6_Silent_p.P930P	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	930	Poly-Pro.						protein binding	p.P930P(1)		NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						CTGGAGGGGGCGGAGGGGAAG	0.622000													6	9					3.09899e-07	3.48105e-07	1	1	0
CPXM1	56265	broad.mit.edu	37	20	2775235	2775235	+	Silent	SNP	C	C	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr20:2775235C>T	ENST00000380605.2	-	13	1975	c.1911G>A	c.(1909-1911)ggG>ggA	p.G637G		NM_001184699.1|NM_019609.4	NP_001171628.1|NP_062555.1	Q96SM3	CPXM1_HUMAN	carboxypeptidase X (M14 family), member 1	637					cell adhesion|proteolysis		metallocarboxypeptidase activity|zinc ion binding	p.G637G(1)		endometrium(5)|kidney(5)|large_intestine(8)|lung(17)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						CGTCAGCAATCCCAAGCTCCG	0.592000													9	104					0	0	1	0	0
ADAMTS12	81792	broad.mit.edu	37	5	33576861	33576861	+	Silent	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr5:33576861G>T	ENST00000504830.1	-	19	3605	c.3270C>A	c.(3268-3270)ccC>ccA	p.P1090P	ADAMTS12_ENST00000352040.3_Silent_p.P1005P	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1090	Spacer 2.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.P1090P(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						AAGTGAGGATGGGCTGGGAAG	0.512000										HNSCC(64;0.19)			110	198					2.31934e-59	4.12167e-59	1	1	0
PAX1	5075	broad.mit.edu	37	20	21695388	21695388	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr20:21695388C>T	ENST00000398485.2	+	5	1606	c.1552C>T	c.(1552-1554)Cca>Tca	p.P518S	PAX1_ENST00000444366.2_3'UTR	NM_001257096.1|NM_006192.4	NP_001244025.1|NP_006183.2	P15863	PAX1_HUMAN	paired box 1	518					regulation of transcription, DNA-dependent|skeletal system development|transcription from RNA polymerase II promoter	nucleus	DNA binding	p.P518S(1)|p.P424S(1)		autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(21)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	38						GCCGGACCCACCACACTTCCT	0.637000													7	14					0	0	1	0	0
DCHS2	54798	broad.mit.edu	37	4	155156960	155156960	+	Silent	SNP	G	G	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr4:155156960G>A	ENST00000357232.3	-	25	7478	c.7479C>T	c.(7477-7479)ctC>ctT	p.L2493L		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	2493	Cadherin 22.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.L2493L(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		CTTCTTTGTTGAGTTGACTTT	0.353000													4	90					0	0	1	0	0
SLC6A18	348932	broad.mit.edu	37	5	1240646	1240646	+	Splice_Site	SNP	G	G	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr5:1240646G>A	ENST00000324642.3	+	7	969	c.845_splice	c.e7-1	p.R282_splice	SLC6A18_ENST00000296821.4_Splice_Site_p.R277_splice	NM_182632.2	NP_872438.2	Q96N87	S6A18_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 18	282					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	p.R282R(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1)	34	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			TTGTGCCCAGGAATGACTGCC	0.587000													6	38					0	0	1	0	0
PRKAB1	5564	broad.mit.edu	37	12	120112183	120112183	+	Silent	SNP	C	C	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr12:120112183C>T	ENST00000229328.5	+	4	948	c.456C>T	c.(454-456)atC>atT	p.I152I	PRKAB1_ENST00000541640.1_Silent_p.I152I|PRKAB1_ENST00000540121.1_5'UTR	NM_006253.4	NP_006244.2	Q9Y478	AAKB1_HUMAN	protein kinase, AMP-activated, beta 1 non-catalytic subunit	152					cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid oxidation	cytosol		p.I152I(1)		endometrium(2)|large_intestine(3)|lung(5)	10	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.166)	Adenosine monophosphate(DB00131)|Metformin(DB00331)	TTAACAACATCATTCAAGTGA	0.418000													5	88					0	0	1	0	0
COPB1	1315	broad.mit.edu	37	11	14496111	14496111	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr11:14496111G>A	ENST00000249923.3	-	14	1967	c.1667C>T	c.(1666-1668)tCc>tTc	p.S556F	COPB1_ENST00000439561.2_Missense_Mutation_p.S556F|COPB1_ENST00000526191.1_5'UTR	NM_016451.4	NP_057535.1	P53618	COPB_HUMAN	coatomer protein complex, subunit beta 1	556					COPI coating of Golgi vesicle|interspecies interaction between organisms|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|ER-Golgi intermediate compartment|plasma membrane	protein binding|structural molecule activity	p.S556F(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	36						TGTGGCAAGGGAGGCAGCAAC	0.423000													47	213					0	0	1	0	0
IL17REL	400935	broad.mit.edu	37	22	50438923	50438923	+	Missense_Mutation	SNP	C	C	A	rs137904241		TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr22:50438923C>A	ENST00000389983.2	-	6	582	c.318G>T	c.(316-318)caG>caT	p.Q106H	IL17REL_ENST00000341280.5_Missense_Mutation_p.Q106H	NM_001001694.2	NP_001001694.2	Q6ZVW7	I17EL_HUMAN	interleukin 17 receptor E-like	106								p.Q106H(1)		endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)	6		all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236)		BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		CGAGGTGCCTCTGGTCCAGCT	0.652000													4	5					0.00909568	0.00927339	1	1	0
CSF2RB	1439	broad.mit.edu	37	22	37329915	37329915	+	Silent	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr22:37329915C>A	ENST00000262825.5	+	10	1429	c.1212C>A	c.(1210-1212)gcC>gcA	p.A404A	CSF2RB_ENST00000406230.1_Silent_p.A404A|CSF2RB_ENST00000403662.3_Silent_p.A398A|CSF2RB_ENST00000536485.1_Silent_p.A345A	NM_000395.2	NP_000386.1	P32927	IL3RB_HUMAN	colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage)	398	Fibronectin type-III 2.				respiratory gaseous exchange	granulocyte macrophage colony-stimulating factor receptor complex	cytokine receptor activity	p.A398A(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42					Sargramostim(DB00020)	ACAGCATGGCCCTGCCAGCCC	0.677000													13	2					1.10513e-12	1.36126e-12	1	1	0
ITGBL1	9358	broad.mit.edu	37	13	102367973	102367973	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr13:102367973G>T	ENST00000376180.3	+	11	1673	c.1454G>T	c.(1453-1455)tGt>tTt	p.C485F	ITGBL1_ENST00000545560.2_Missense_Mutation_p.C344F|ITGBL1_ENST00000376162.3_Missense_Mutation_p.C392F	NM_001271756.1|NM_004791.1	NP_001258685.1|NP_004782.1	O95965	ITGBL_HUMAN	integrin, beta-like 1 (with EGF-like repeat domains)	485	Cysteine-rich tandem repeats.				cell-matrix adhesion|integrin-mediated signaling pathway	extracellular region|integrin complex	binding|receptor activity	p.C485F(1)		breast(1)|large_intestine(6)|lung(16)|ovary(1)|prostate(4)|skin(3)	31	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GGAAATGCATGTGAAATCTGG	0.373000													180	141					3.54448e-97	6.58424e-97	1	1	0
TLE4	7091	broad.mit.edu	37	9	82336678	82336678	+	Nonsense_Mutation	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr9:82336678G>T	ENST00000376520.4	+	18	2785	c.1957G>T	c.(1957-1959)Gga>Tga	p.G653*	TLE4_ENST00000265284.6_Nonsense_Mutation_p.G596*|TLE4_ENST00000376552.2_Nonsense_Mutation_p.G621*|TLE4_ENST00000376544.3_Nonsense_Mutation_p.G552*|TLE4_ENST00000376534.4_Nonsense_Mutation_p.G258*|TLE4_ENST00000376537.4_Nonsense_Mutation_p.G653*			O60756	BCE1_HUMAN	transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila)	0								p.G621*(1)|p.G653*(1)		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						CCACACAGATGGAGCCAGCTG	0.473000													52	58					5.80444e-35	9.25485e-35	1	1	0
CDH8	1006	broad.mit.edu	37	16	61687618	61687618	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr16:61687618G>T	ENST00000577390.1	-	12	3248	c.2294C>A	c.(2293-2295)aCc>aAc	p.T765N	CDH8_ENST00000299345.6_Intron|CDH8_ENST00000577730.1_Intron	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	765					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.T765N(1)		biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		GTCTGATGTGGTGGACTCCAA	0.522000													12	50					0.0931896	0.0940084	1	1	0
PXDNL	137902	broad.mit.edu	37	8	52370158	52370158	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr8:52370158G>T	ENST00000356297.4	-	9	982	c.882C>A	c.(880-882)aaC>aaA	p.N294K	PXDNL_ENST00000543296.1_Missense_Mutation_p.N294K	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	294	Ig-like C2-type 1.				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	p.N294K(1)		NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				ACTCTCTGGTGTTTCGGATCA	0.443000													204	134					5.58888e-140	1.06579e-139	1	1	0
ADAMTSL3	57188	broad.mit.edu	37	15	84651595	84651595	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr15:84651595C>A	ENST00000286744.5	+	21	3439	c.3215C>A	c.(3214-3216)tCc>tAc	p.S1072Y	ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.S1072Y	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	1072						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	p.S1072Y(1)		NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			AGCACCAACTCCTGGGAGTTG	0.433000													82	123					7.22319e-40	1.19141e-39	1	1	0
OR4E2	26686	broad.mit.edu	37	14	22133768	22133768	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr14:22133768G>T	ENST00000408935.1	+	1	472	c.472G>T	c.(472-474)Ggg>Tgg	p.G158W		NM_001001912.1	NP_001001912.1	Q8NGC2	OR4E2_HUMAN	olfactory receptor, family 4, subfamily E, member 2	158					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G158W(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	15	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0137)		TCACTCACTAGGGCAGACCTT	0.488000													204	210					5.12032e-141	9.79687e-141	1	1	0
NOX5	79400	broad.mit.edu	37	15	69335109	69335109	+	Missense_Mutation	SNP	G	G	C			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr15:69335109G>C	ENST00000260364.5	+	11	1858	c.1557G>C	c.(1555-1557)agG>agC	p.R519S	RP11-809H16.4_ENST00000559495.1_RNA|NOX5_ENST00000455873.3_Missense_Mutation_p.R502S|NOX5_ENST00000388866.3_Missense_Mutation_p.R537S|NOX5_ENST00000530406.2_Missense_Mutation_p.R509S|NOX5_ENST00000448182.3_Missense_Mutation_p.R491S			Q96PH1	NOX5_HUMAN	NADPH oxidase, EF-hand calcium binding domain 5	537	C-terminal catalytic region.|FAD-binding FR-type.				angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation	endoplasmic reticulum|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|NADP binding|superoxide-generating NADPH oxidase activity	p.R519S(1)		breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						GGCTGTCGAGGAGTGTGACAA	0.557000													24	271					0	0	1	0	0
DAGLA	747	broad.mit.edu	37	11	61504654	61504654	+	Splice_Site	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr11:61504654G>T	ENST00000257215.5	+	14	1488	c.1371_splice	c.e14-1	p.G458_splice		NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN	diacylglycerol lipase, alpha	458					cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity	p.G458C(1)		breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		CGGTCTCCAGGGCCGCGGAAC	0.637000													10	20					2.27111e-07	2.55611e-07	1	1	0
IGHV1-58	28464	broad.mit.edu	37	14	107078607	107078607	+	RNA	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr14:107078607G>T	ENST00000390628.2	-	0	177																											CCTTGCAGGAGACCTTCACTG	0.557000													63	49					1.63007e-36	2.63567e-36	1	1	0
MAP2K1	5604	broad.mit.edu	37	15	66727455	66727455	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr15:66727455G>T	ENST00000307102.5	+	2	702	c.171G>T	c.(169-171)aaG>aaT	p.K57N		NM_002755.3	NP_002746.1	Q02750	MP2K1_HUMAN	mitogen-activated protein kinase kinase 1	57					activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|Ras protein signal transduction|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|plasma membrane	ATP binding|MAP kinase kinase activity|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.K57N(3)		endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(8)|urinary_tract(1)	20						TTACCCAGAAGCAGAAGGTGG	0.542000													133	428					1.13329e-80	2.0783e-80	1	1	0
TDP2	51567	broad.mit.edu	37	6	24666767	24666767	+	Missense_Mutation	SNP	C	C	T	rs143844222	by1000genomes	TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr6:24666767C>T	ENST00000378198.4	-	2	408	c.238G>A	c.(238-240)Gag>Aag	p.E80K	TDP2_ENST00000341060.3_5'UTR|TDP2_ENST00000545995.1_Missense_Mutation_p.E110K			O95551	TYDP2_HUMAN	tyrosyl-DNA phosphodiesterase 2	80					cell surface receptor linked signaling pathway|double-strand break repair	PML body	5'-tyrosyl-DNA phosphodiesterase activity|magnesium ion binding|nuclease activity|protein binding|transcription corepressor activity	p.E80K(1)		kidney(2)|large_intestine(1)|lung(5)|ovary(1)	9						GTCTTGGGCTCAGAGATGGTT	0.602000								Direct reversal of damage					22	235					0	0	1	0	0
CUL9	23113	broad.mit.edu	37	6	43166498	43166498	+	Silent	SNP	C	C	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr6:43166498C>T	ENST00000252050.4	+	12	3039	c.2955C>T	c.(2953-2955)ctC>ctT	p.L985L	CUL9_ENST00000372647.2_Silent_p.L985L|CUL9_ENST00000354495.3_Silent_p.L875L	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	985					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding	p.L985L(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						GGCCCCTCCTCAAGCGCCTCC	0.642000													24	80					0	0	1	0	0
NXPE2	120406	broad.mit.edu	37	11	114568908	114568908	+	Missense_Mutation	SNP	G	G	C			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr11:114568908G>C	ENST00000375475.5	+	3	372	c.274G>C	c.(274-276)Gac>Cac	p.D92H	NXPE2_ENST00000389586.4_Missense_Mutation_p.D92H					neurexophilin and PC-esterase domain family, member 2									p.D92H(2)									GGAGAAACTAGACCAGCAGAT	0.458000													48	160					0	0	1	0	0
OR4C13	283092	broad.mit.edu	37	11	49974893	49974893	+	Missense_Mutation	SNP	A	A	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr11:49974893A>T	ENST00000555099.1	+	1	951	c.919A>T	c.(919-921)Agt>Tgt	p.S307C		NM_001001955.2	NP_001001955.2	Q8NGP0	OR4CD_HUMAN	olfactory receptor, family 4, subfamily C, member 13	307					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S307C(1)		autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	43						AGCTATTTCAAGTGTCAAATA	0.368000													12	52					0	0	1	0	0
MCOLN2	255231	broad.mit.edu	37	1	85418191	85418191	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr1:85418191C>A	ENST00000370608.3	-	5	655	c.588G>T	c.(586-588)caG>caT	p.Q196H	MCOLN2_ENST00000531325.1_5'UTR|MCOLN2_ENST00000284027.5_Missense_Mutation_p.Q168H	NM_153259.2	NP_694991.2	Q8IZK6	MCLN2_HUMAN	mucolipin 2	196						integral to membrane	ion channel activity	p.Q196H(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	18				all cancers(265;0.0111)|Epithelial(280;0.0263)|OV - Ovarian serous cystadenocarcinoma(397;0.217)		TGGAGAGGTCCTGAAGGTCTA	0.388000													59	35					3.41413e-29	5.07697e-29	1	1	0
HMCN1	83872	broad.mit.edu	37	1	186034405	186034405	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr1:186034405G>T	ENST00000271588.4	+	49	7778	c.7549G>T	c.(7549-7551)Ggg>Tgg	p.G2517W	HMCN1_ENST00000367492.2_Missense_Mutation_p.G2517W	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	2517	Ig-like C2-type 23.				response to stimulus|visual perception	basement membrane	calcium ion binding	p.G2517W(1)		NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GCACAAAGATGGGCAGCCCCT	0.403000													11	65					0.0242445	0.0245006	1	1	0
F13A1	2162	broad.mit.edu	37	6	6197479	6197479	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr6:6197479C>A	ENST00000264870.3	-	9	1458	c.1193G>T	c.(1192-1194)aGc>aTc	p.S398I		NM_000129.3	NP_000120.2	P00488	F13A_HUMAN	coagulation factor XIII, A1 polypeptide	398					peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	p.S398I(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	CTGGGGGGTGCTGTCCACAGC	0.478000													40	98					4.75955e-12	5.78809e-12	1	1	0
RBM42	79171	broad.mit.edu	37	19	36120510	36120510	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr19:36120510G>A	ENST00000262633.4	+	2	322	c.217G>A	c.(217-219)Gaa>Aaa	p.E73K	RBM42_ENST00000589871.1_Missense_Mutation_p.E73K|RBM42_ENST00000360475.4_Missense_Mutation_p.E73K|RBM42_ENST00000589559.1_Missense_Mutation_p.E73K|RBM42_ENST00000588161.1_Missense_Mutation_p.E73K|RBM42_ENST00000586618.1_Missense_Mutation_p.E73K|RBM42_ENST00000592202.1_Missense_Mutation_p.E73K	NM_024321.3	NP_077297.2	Q9BTD8	RBM42_HUMAN	RNA binding motif protein 42	73						cytoplasm|nucleus	nucleotide binding|RNA binding	p.E73K(1)		breast(1)|endometrium(3)|large_intestine(7)|lung(9)|prostate(1)	21	all_lung(56;1.58e-07)|Lung NSC(56;2.43e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			CCCCACAGTAGAAGCGATGCA	0.587000													7	89					0	0	1	0	0
SELPLG	6404	broad.mit.edu	37	12	109017819	109017819	+	Missense_Mutation	SNP	G	G	C			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr12:109017819G>C	ENST00000388962.3	-	2	424	c.265C>G	c.(265-267)Cgt>Ggt	p.R89G	SELPLG_ENST00000228463.6_Missense_Mutation_p.R105G|SELPLG_ENST00000550948.1_Missense_Mutation_p.R89G	NM_003006.4	NP_002997.2	Q14242	SELPL_HUMAN	selectin P ligand	89					blood coagulation|cellular response to interleukin-6	integral to plasma membrane|membrane fraction	bacterial cell surface binding|receptor binding	p.R89G(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|prostate(3)|skin(1)	12						CCAGTAGAACGCCTTGCAGCA	0.582000													20	48					0	0	1	0	0
PSMD8	5714	broad.mit.edu	37	19	38873891	38873891	+	Splice_Site	SNP	A	A	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr19:38873891A>T	ENST00000215071.4	+	7	981		c.e7-1		PSMD8_ENST00000602911.1_Splice_Site	NM_002812.4	NP_002803.2	P48556	PSMD8_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 8						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	cytoplasm|nucleus|proteasome regulatory particle	protein binding	p.?(2)		central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(1)	6	all_cancers(60;3.4e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			CCTTTCCTGCAGCGAGGGTGG	0.562000													7	11					0	0	1	0	0
IGKV1-27	28935	broad.mit.edu	37	2	89513089	89513089	+	RNA	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr2:89513089C>A	ENST00000498435.1	-	0	200																											CTGCTGATACCAGGCTAAATA	0.522000													59	148					9.453e-31	1.42043e-30	1	1	0
NR1H4	9971	broad.mit.edu	37	12	100926360	100926360	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr12:100926360G>A	ENST00000548884.1	+	5	1111	c.570G>A	c.(568-570)atG>atA	p.M190I	NR1H4_ENST00000549996.1_Intron|NR1H4_ENST00000551379.1_Missense_Mutation_p.M200I|NR1H4_ENST00000392986.3_Missense_Mutation_p.M190I|NR1H4_ENST00000188403.7_Missense_Mutation_p.M200I	NM_001206977.1|NM_001206979.1|NM_005123.3	NP_001193906.1|NP_001193908.1|NP_005114.1	Q96RI1	NR1H4_HUMAN	nuclear receptor subfamily 1, group H, member 4	200					bile acid metabolic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding	p.M190I(1)|p.M200I(1)		NS(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	44						GCAAAGAGATGGGAATGTTGG	0.403000													9	279					0	0	1	0	0
PI15	51050	broad.mit.edu	37	8	75737519	75737519	+	Missense_Mutation	SNP	T	T	C			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr8:75737519T>C	ENST00000260113.2	+	2	214	c.35T>C	c.(34-36)cTg>cCg	p.L12P	RP11-758M4.4_ENST00000518128.1_RNA|RP11-758M4.4_ENST00000523860.1_RNA|PI15_ENST00000523773.1_Missense_Mutation_p.L12P	NM_015886.3	NP_056970.1	O43692	PI15_HUMAN	peptidase inhibitor 15	12						extracellular region	peptidase inhibitor activity	p.L12P(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|skin(1)	30	Breast(64;0.137)		BRCA - Breast invasive adenocarcinoma(89;0.104)|Epithelial(68;0.118)			AGTGCACTCCTGTTCTCCCTT	0.468000													157	262					0	0	1	0	0
SPATA31E1	286234	broad.mit.edu	37	9	90501607	90501607	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr9:90501607G>T	ENST00000325643.5	+	4	2271	c.2205G>T	c.(2203-2205)gaG>gaT	p.E735D		NM_178828.4	NP_849150.3			SPATA31 subfamily E, member 1									p.E735D(1)									AAGACAAGGAGGCAGAAGGTG	0.547000													41	41					4.49093e-37	7.28191e-37	1	1	0
CAGE1	285782	broad.mit.edu	37	6	7355286	7355286	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr6:7355286G>T	ENST00000502583.1	-	11	2921	c.2357C>A	c.(2356-2358)tCc>tAc	p.S786Y	CAGE1_ENST00000379918.4_Missense_Mutation_p.S764Y|CAGE1_ENST00000338150.4_Missense_Mutation_p.S751Y|CAGE1_ENST00000296742.7_Missense_Mutation_p.S588Y|CAGE1_ENST00000512086.1_Missense_Mutation_p.S724Y	NM_001170692.1	NP_001164163.1	Q8TC20	CAGE1_HUMAN	cancer antigen 1	724								p.S751Y(1)|p.S786Y(1)|p.S588Y(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|lung(11)|urinary_tract(1)	19	Ovarian(93;0.0418)					TGCAATCTGGGAGTGGGATAT	0.308000													47	57					2.92391e-54	5.08582e-54	1	1	0
SLC32A1	140679	broad.mit.edu	37	20	37357011	37357011	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr20:37357011G>T	ENST00000217420.1	+	2	1570	c.1307G>T	c.(1306-1308)cGc>cTc	p.R436L		NM_080552.2	NP_542119.1	Q9H598	VIAAT_HUMAN	solute carrier family 32 (GABA vesicular transporter), member 1	436					neurotransmitter secretion	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane	vesicular hydrogen:amino acid antiporter activity	p.R436L(1)		breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|urinary_tract(1)	38		Myeloproliferative disorder(115;0.00878)			Glycine(DB00145)	CTGACGCTGCGCTGCGCGCTC	0.677000													3	3					0.014758	0.0149666	1	1	0
DISP1	84976	broad.mit.edu	37	1	223177398	223177398	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr1:223177398G>A	ENST00000284476.6	+	8	2823	c.2659G>A	c.(2659-2661)Gaa>Aaa	p.E887K		NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	887					diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity	p.E887K(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		AGAGATTTTTGAACTGTGCAT	0.478000													12	50					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7578177	7578177	+	Splice_Site	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr17:7578177C>A	ENST00000420246.2	-	6	804	c.672_splice	c.e6+1	p.E224_splice	TP53_ENST00000455263.2_Splice_Site_p.E224_splice|TP53_ENST00000269305.4_Splice_Site_p.E224_splice|TP53_ENST00000413465.2_Splice_Site_p.E224_splice|TP53_ENST00000359597.4_Splice_Site_p.E224_splice|TP53_ENST00000445888.2_Splice_Site_p.E224_splice|TP53_ENST00000574684.1_Intron	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	224	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> V (in a sporadic cancer; 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.E224D(20)|p.?(13)|p.E224E(12)|p.0?(8)|p.E131D(3)|p.E131E(2)|p.V218_E224delVPYEPPE(1)|p.V225fs*24(1)|p.E224_V225insXX(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)		CAAACCAGACCTCAGGCGGCT	0.532000		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)			31	31					6.29468e-14	7.85467e-14	1	1	0
TPTE2P2	644623	broad.mit.edu	37	13	52864028	52864028	+	RNA	SNP	C	C	T	rs138483057	by1000genomes	TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr13:52864028C>T	ENST00000451298.1	-	0	141				RP11-64P12.8_ENST00000606031.1_RNA																							TAGAATGATACTCCAAAGGAA	0.313000													5	57					0	0	1	0	0
KCTD3	51133	broad.mit.edu	37	1	215792515	215792515	+	Nonsense_Mutation	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr1:215792515G>T	ENST00000259154.4	+	17	2062	c.1768G>T	c.(1768-1770)Gaa>Taa	p.E590*	KCTD3_ENST00000495537.1_3'UTR	NM_016121.3	NP_057205.2	Q9Y597	KCTD3_HUMAN	potassium channel tetramerization domain containing 3	590						voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity	p.E590*(1)		breast(4)|endometrium(2)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)	33				all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13)		TCCAACCGAAGAAGAGCTACT	0.403000													51	157					2.5401e-28	3.76748e-28	1	1	0
ZNF35	7584	broad.mit.edu	37	3	44700712	44700712	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr3:44700712C>A	ENST00000396056.2	+	4	1092	c.857C>A	c.(856-858)gCc>gAc	p.A286D	ZNF35_ENST00000542250.1_Missense_Mutation_p.A126D|ZNF35_ENST00000296092.3_3'UTR|RP11-944L7.4_ENST00000457331.1_RNA	NM_003420.3	NP_003411.3	P13682	ZNF35_HUMAN	zinc finger protein 35	286					cellular response to retinoic acid|spermatogenesis	nucleus|perinuclear region of cytoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.A286E(1)		large_intestine(3)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	12		Ovarian(412;0.0228)		OV - Ovarian serous cystadenocarcinoma(275;2.49e-27)|KIRC - Kidney renal clear cell carcinoma(197;0.0475)|Kidney(197;0.0595)		TGTGGGAAAGCCTTCACTCAG	0.408000													43	26					7.05377e-20	9.57178e-20	1	1	0
PDCD11	22984	broad.mit.edu	37	10	105198552	105198552	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr10:105198552G>T	ENST00000369797.3	+	27	4106	c.4012G>T	c.(4012-4014)Ggt>Tgt	p.G1338C		NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11	1338	S1 motif 12.				mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding	p.G1338C(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		CCAGCCACACGGTGTGTTCTT	0.552000													13	47					1.3612e-06	1.51421e-06	1	1	0
GZF1	64412	broad.mit.edu	37	20	23345114	23345114	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr20:23345114G>A	ENST00000338121.5	+	2	171	c.94G>A	c.(94-96)Gac>Aac	p.D32N	GZF1_ENST00000377051.2_Missense_Mutation_p.D32N|GZF1_ENST00000544236.1_Intron|GZF1_ENST00000542987.1_Intron			Q9H116	GZF1_HUMAN	GDNF-inducible zinc finger protein 1	32	BTB.				transcription, DNA-dependent	nucleolus|nucleoplasm	sequence-specific DNA binding|zinc ion binding	p.D32N(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|urinary_tract(2)	24	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)					TCACCTGTGTGACGTGACAGT	0.517000													4	39					0	0	1	0	0
MAP3K15	389840	broad.mit.edu	37	X	19443781	19443781	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chrX:19443781C>T	ENST00000338883.4	-	9	1306	c.1307G>A	c.(1306-1308)aGa>aAa	p.R436K	MAP3K15_ENST00000359173.3_5'UTR|MAP3K15_ENST00000518578.1_5'UTR|MAP3K15_ENST00000469203.2_Missense_Mutation_p.R268K	NM_001001671.3	NP_001001671.3	Q6ZN16	M3K15_HUMAN	mitogen-activated protein kinase kinase kinase 15	436							ATP binding|MAP kinase kinase kinase activity|metal ion binding	p.R483K(1)|p.R483T(1)		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)					GCTCCCTTTTCTTCCCAACAA	0.433000													4	66					0	0	1	0	0
AFAP1L2	84632	broad.mit.edu	37	10	116100464	116100464	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr10:116100464C>T	ENST00000369271.3	-	2	343	c.43G>A	c.(43-45)Gat>Aat	p.D15N	AFAP1L2_ENST00000304129.4_Missense_Mutation_p.D15N|AFAP1L2_ENST00000545353.1_Missense_Mutation_p.D15N	NM_001001936.1|NM_032550.2	NP_001001936.1|NP_115939.1	Q8N4X5	AF1L2_HUMAN	actin filament associated protein 1-like 2	15					inflammatory response|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of transcription, DNA-dependent|regulation of interleukin-6 production|regulation of mitotic cell cycle	cytoplasm	protein tyrosine kinase activator activity|SH2 domain binding|SH3 domain binding	p.D33N(1)|p.D15N(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|prostate(2)	21		Colorectal(252;0.175)|Breast(234;0.231)		Epithelial(162;0.0219)|all cancers(201;0.0561)		AGGAAGTCATCCAACTCTGTC	0.547000													5	60					0	0	1	0	0
KIR3DL2	3812	broad.mit.edu	37	19	55378056	55378056	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr19:55378056G>T	ENST00000326321.3	+	9	1271	c.1238G>T	c.(1237-1239)cGc>cTc	p.R413L	KIR3DL1_ENST00000402254.2_Missense_Mutation_p.R413L|KIR3DL2_ENST00000270442.5_Missense_Mutation_p.R396L	NM_006737.3	NP_006728.2	P43630	KI3L2_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 2	413					cellular defense response|regulation of immune response	integral to plasma membrane	receptor activity	p.R413L(2)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	23				GBM - Glioblastoma multiforme(193;0.0192)		AAAATCAGTCGCCCTTCTCAG	0.517000													396	614					7.70712e-192	1.48453e-191	1	1	0
HTRA2	27429	broad.mit.edu	37	2	74759976	74759976	+	Nonsense_Mutation	SNP	T	T	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr2:74759976T>A	ENST00000258080.3	+	8	1871	c.1241T>A	c.(1240-1242)tTg>tAg	p.L414*	HTRA2_ENST00000352222.3_Nonsense_Mutation_p.L317*|LOXL3_ENST00000264094.3_3'UTR|HTRA2_ENST00000467961.1_3'UTR|LOXL3_ENST00000409249.1_3'UTR	NM_013247.4	NP_037379.1	O43464	HTRA2_HUMAN	HtrA serine peptidase 2	414	PDZ.				apoptosis|proteolysis|response to stress	CD40 receptor complex|endoplasmic reticulum membrane|internal side of plasma membrane|mitochondrial intermembrane space|mitochondrial membrane|nucleus	serine-type endopeptidase activity|unfolded protein binding	p.L414*(1)		endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	12						GATGTGATTTTGGCCATTGGG	0.498000													101	156					0	0	1	0	0
SCRN2	90507	broad.mit.edu	37	17	45915657	45915657	+	Silent	SNP	C	C	T	rs147761976	byFrequency	TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr17:45915657C>T	ENST00000407215.3	-	7	1179	c.1098G>A	c.(1096-1098)ctG>ctA	p.L366L	SCRN2_ENST00000584123.1_Silent_p.L374L|SCRN2_ENST00000290216.9_Silent_p.L366L			Q96FV2	SCRN2_HUMAN	secernin 2	366					proteolysis		dipeptidase activity	p.L366L(1)		cervix(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	14						CCATCAGCCCCAGGGCTGCCT	0.592000													3	29					0	0	1	0	0
OR52E4	390081	broad.mit.edu	37	11	5905527	5905527	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr11:5905527C>A	ENST00000316987.2	+	1	27	c.5C>A	c.(4-6)cCt>cAt	p.P2H		NM_001005165.1	NP_001005165.1	Q8NGH9	O52E4_HUMAN	olfactory receptor, family 52, subfamily E, member 4	2					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P2H(1)		autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(2)|prostate(1)|skin(2)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGGAGAATGCCTTCTATCAAT	0.423000													58	194					4.66136e-34	7.35061e-34	1	1	0
ZNF526	116115	broad.mit.edu	37	19	42729117	42729117	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr19:42729117C>T	ENST00000301215.3	+	3	787	c.562C>T	c.(562-564)Ccc>Tcc	p.P188S		NM_133444.1	NP_597701.1	Q8TF50	ZN526_HUMAN	zinc finger protein 526	188					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.P188S(1)		autonomic_ganglia(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(3)	22		Prostate(69;0.0704)				TCCACCTTCTCCCCCATCCGA	0.597000													63	96					0	0	1	0	0
CADM3	57863	broad.mit.edu	37	1	159163301	159163301	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr1:159163301C>A	ENST00000368125.4	+	4	628	c.471C>A	c.(469-471)agC>agA	p.S157R	CADM3_ENST00000368124.4_Missense_Mutation_p.S191R	NM_001127173.1	NP_001120645.1	Q8N126	CADM3_HUMAN	cell adhesion molecule 3	157	Ig-like C2-type 1.				adherens junction organization|cell junction assembly|heterophilic cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	protein homodimerization activity	p.S191R(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(20)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55	all_hematologic(112;0.0429)					CTTCTGGGAGCAAGCCTGCAG	0.512000													26	37					4.4194e-11	5.28487e-11	1	1	0
GNPTAB	79158	broad.mit.edu	37	12	102183810	102183810	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr12:102183810C>T	ENST00000299314.7	-	3	491	c.229G>A	c.(229-231)Gtt>Att	p.V77I	GNPTAB_ENST00000549940.1_Missense_Mutation_p.V77I	NM_024312.4	NP_077288.2	Q3T906	GNPTA_HUMAN	N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits	77					cell differentiation	Golgi membrane|integral to membrane|nucleus	metal ion binding|transcription factor binding|UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity	p.V77I(2)		NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	37						GTGTAAACAACGTCAATCGGC	0.428000													178	386					0	0	1	0	0
MS4A10	341116	broad.mit.edu	37	11	60558557	60558557	+	Silent	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr11:60558557G>T	ENST00000308287.1	+	3	390	c.294G>T	c.(292-294)ggG>ggT	p.G98G		NM_206893.3	NP_996776.2	Q96PG2	M4A10_HUMAN	membrane-spanning 4-domains, subfamily A, member 10	98						integral to membrane	receptor activity	p.G98G(1)		endometrium(1)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|skin(2)	21						CATTCTGGGGGGCTGCCTCTG	0.582000													31	56					1.68508e-10	1.9902e-10	1	1	0
MMP1	4312	broad.mit.edu	37	11	102666324	102666324	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr11:102666324G>T	ENST00000315274.6	-	5	707	c.640C>A	c.(640-642)Cgt>Agt	p.R214S	WTAPP1_ENST00000525739.2_RNA	NM_001145938.1|NM_002421.3	NP_001139410.1|NP_002412.1	P03956	MMP1_HUMAN	matrix metallopeptidase 1 (interstitial collagenase)	214	Metalloprotease.				blood coagulation|collagen catabolic process|interspecies interaction between organisms|leukocyte migration|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	p.R214S(1)		breast(2)|endometrium(1)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	30	all_epithelial(12;0.0127)	all_neural(303;0.000318)|all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.072)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.233)	OV - Ovarian serous cystadenocarcinoma(223;1.82e-07)|Epithelial(105;1.51e-06)|BRCA - Breast invasive adenocarcinoma(274;0.014)		GCTGCAACACGATGTAAGTTG	0.368000													11	45					6.31663e-08	7.1655e-08	1	1	0
CREG2	200407	broad.mit.edu	37	2	101967438	101967438	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr2:101967438C>A	ENST00000324768.4	-	4	957	c.820G>T	c.(820-822)Gca>Tca	p.A274S		NM_153836.3	NP_722578.1	Q8IUH2	CREG2_HUMAN	cellular repressor of E1A-stimulated genes 2	274						extracellular region	FMN binding	p.A274S(1)		endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	10						ATACTGGATGCGCCTCCATAC	0.443000													41	83					1.06522e-23	1.52099e-23	1	1	0
PANX1	24145	broad.mit.edu	37	11	93862607	93862607	+	Silent	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr11:93862607G>T	ENST00000227638.3	+	1	514	c.129G>T	c.(127-129)gtG>gtT	p.V43V	PANX1_ENST00000436171.2_Silent_p.V43V	NM_015368.3	NP_056183.2	Q96RD7	PANX1_HUMAN	pannexin 1	43					positive regulation of interleukin-1 beta secretion|protein hexamerization|synaptic transmission	bleb|endoplasmic reticulum membrane|gap junction|integral to membrane	calcium channel activity|gap junction hemi-channel activity|leak channel activity|receptor binding	p.V43V(1)		endometrium(2)|large_intestine(2)|lung(13)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				GCATTGCGGTGGGGCTGCCCC	0.647000													5	13					0.00621372	0.00640336	1	1	0
MSRB3	253827	broad.mit.edu	37	12	65857034	65857034	+	Missense_Mutation	SNP	A	A	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr12:65857034A>T	ENST00000308259.5	+	7	764	c.490A>T	c.(490-492)Agc>Tgc	p.S164C	MSRB3_ENST00000355192.3_Missense_Mutation_p.S171C|MSRB3_ENST00000535664.1_Missense_Mutation_p.S164C	NM_001031679.2|NM_001193460.1	NP_001026849.1|NP_001180389.1	Q8IXL7	MSRB3_HUMAN	methionine sulfoxide reductase B3	171					protein repair	endoplasmic reticulum|mitochondrion	peptide-methionine-(S)-S-oxide reductase activity|protein-methionine-R-oxide reductase activity|zinc ion binding	p.S164C(1)|p.S171C(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)	13			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.131)		ACCTGCGGATAGCAGTGGCAC	0.547000													29	60					0	0	1	0	0
FAM214A	56204	broad.mit.edu	37	15	52902041	52902041	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr15:52902041C>A	ENST00000261844.7	-	6	1222	c.1070G>T	c.(1069-1071)gGt>gTt	p.G357V	FAM214A_ENST00000546305.2_Missense_Mutation_p.G364V	NM_019600.2	NP_062546.2	Q32MH5	K1370_HUMAN	family with sequence similarity 214, member A	357								p.G357V(1)									GTTAGTCTCACCAGCTGACTG	0.388000													11	15					1.3612e-06	1.51421e-06	1	1	0
XYLT1	64131	broad.mit.edu	37	16	17221699	17221699	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr16:17221699G>T	ENST00000261381.6	-	10	2131	c.2047C>A	c.(2047-2049)Cca>Aca	p.P683T		NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	683					glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity	p.P683T(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						ACAGATGCTGGGTGGCCCATT	0.527000													82	81					1.63847e-34	2.59801e-34	1	1	0
PCDHB6	56130	broad.mit.edu	37	5	140531538	140531538	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr5:140531538C>A	ENST00000231136.1	+	1	1700	c.1700C>A	c.(1699-1701)tCc>tAc	p.S567Y	PCDHB6_ENST00000543635.1_Missense_Mutation_p.S431Y	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN		567	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	p.S567Y(1)		cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CAGAACGGCTCCGCGCCCTGC	0.721000													4	6					0.000602214	0.000629638	1	1	0
XIRP2	129446	broad.mit.edu	37	2	168101224	168101224	+	Nonsense_Mutation	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr2:168101224G>T	ENST00000409195.1	+	9	3411	c.3322G>T	c.(3322-3324)Gaa>Taa	p.E1108*	XIRP2_ENST00000409273.1_Nonsense_Mutation_p.E886*|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000295237.9_Nonsense_Mutation_p.E1108*|XIRP2_ENST00000409728.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	933					actin cytoskeleton organization	cell junction	actin binding	p.E1108*(1)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GTCTCTTTATGAAAAAGTTTC	0.363000													16	39					4.63292e-17	6.03015e-17	1	1	0
IL12A-AS1	101928376	broad.mit.edu	37	3	159818741	159818741	+	RNA	SNP	C	C	G	rs111620918	by1000genomes	TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr3:159818741C>G	ENST00000497452.1	-	0	517																											AACGAAGTCACCGAACTCTCC	0.493000													3	14					0	0	1	0	0
EML2	24139	broad.mit.edu	37	19	46116800	46116800	+	Splice_Site	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr19:46116800C>A	ENST00000536630.1	-	21	2402	c.2265_splice	c.e21+1	p.R755_splice	EML2_ENST00000589876.1_Splice_Site_p.R608_splice|EML2_ENST00000587152.1_Splice_Site_p.R809_splice|EML2_ENST00000245925.3_Splice_Site_p.R608_splice	NM_001193269.1	NP_001180198.1	O95834	EMAL2_HUMAN	echinoderm microtubule associated protein like 2	608					sensory perception of sound|visual perception	cytoplasm|intracellular membrane-bounded organelle|microtubule|microtubule associated complex	catalytic activity|protein binding	p.R608L(1)		NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|urinary_tract(1)	31		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00553)|GBM - Glioblastoma multiforme(486;0.131)|Epithelial(262;0.197)		GGGACTCACTCGAGGCTGACA	0.572000													46	68					5.86059e-21	8.08649e-21	1	1	0
KIAA1429	25962	broad.mit.edu	37	8	95522735	95522735	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr8:95522735C>A	ENST00000297591.5	-	14	3611	c.3536G>T	c.(3535-3537)cGt>cTt	p.R1179L	KIAA1429_ENST00000437199.1_Missense_Mutation_p.R1179L|KIAA1429_ENST00000523405.1_Intron	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	1179					mRNA processing|RNA splicing	nucleus		p.R1179L(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			AACACAAATACGCCGTAACAT	0.423000													73	133					1.32003e-40	2.18357e-40	1	1	0
GTF2H1	2965	broad.mit.edu	37	11	18380137	18380137	+	Nonsense_Mutation	SNP	C	C	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr11:18380137C>T	ENST00000265963.4	+	13	1577	c.1417C>T	c.(1417-1419)Cga>Tga	p.R473*	GTF2H1_ENST00000534641.1_Nonsense_Mutation_p.R357*|GTF2H1_ENST00000526630.2_Nonsense_Mutation_p.R63*|GTF2H1_ENST00000530496.2_Nonsense_Mutation_p.R161*|GTF2H1_ENST00000453096.2_Nonsense_Mutation_p.R473*	NM_005316.3	NP_005307.1	P32780	TF2H1_HUMAN	general transcription factor IIH, polypeptide 1, 62kDa	473					mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|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|viral reproduction	holo TFIIH complex	protein binding	p.R473*(1)		endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	20						AGAACTTCTACGACATTTCTG	0.398000								Nucleotide excision repair (NER)					45	140					0	0	1	0	0
CKAP4	10970	broad.mit.edu	37	12	106633077	106633077	+	Missense_Mutation	SNP	T	T	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr12:106633077T>A	ENST00000378026.4	-	2	1670	c.1534A>T	c.(1534-1536)Acg>Tcg	p.T512S		NM_006825.3	NP_006816.2	Q07065	CKAP4_HUMAN	cytoskeleton-associated protein 4	512						ER-Golgi intermediate compartment membrane|integral to membrane|membrane fraction		p.T512S(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|pancreas(1)|urinary_tract(1)	20						CTGAGCAGCGTGTGCACCTGC	0.607000													19	27					0	0	1	0	0
ZNF254	9534	broad.mit.edu	37	19	24309689	24309689	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr19:24309689G>T	ENST00000357002.4	+	4	1002	c.887G>T	c.(886-888)tGt>tTt	p.C296F	ZNF254_ENST00000342944.6_Missense_Mutation_p.C211F	NM_001278661.1|NM_001278662.1|NM_001278664.1|NM_001278677.1|NM_001278678.1|NM_203282.2	NP_001265590.1|NP_001265591.1|NP_001265593.1|NP_001265606.1|NP_001265607.1|NP_975011.3	O75437	ZN254_HUMAN	zinc finger protein 254	296					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.C296F(1)					all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)				CCTTACAAGTGTGAAGAATGT	0.363000													37	86					5.20006e-24	7.44348e-24	1	1	0
SLC24A4	123041	broad.mit.edu	37	14	92959901	92959901	+	Missense_Mutation	SNP	T	T	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr14:92959901T>A	ENST00000532405.1	+	17	2024	c.1798T>A	c.(1798-1800)Tgc>Agc	p.C600S	SLC24A4_ENST00000298877.1_Missense_Mutation_p.C583S|SLC24A4_ENST00000393265.2_Missense_Mutation_p.C536S|SLC24A4_ENST00000531433.1_Missense_Mutation_p.C581S|SLC24A4_ENST00000351924.5_Missense_Mutation_p.C564S			Q8NFF2	NCKX4_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 4	600						integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity	p.C583S(1)		breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(20)|ovary(2)|skin(1)	36		all_cancers(154;0.0347)|all_epithelial(191;0.163)		Colorectal(1;0.00242)|COAD - Colon adenocarcinoma(157;0.047)|Epithelial(152;0.0781)|READ - Rectum adenocarcinoma(1;0.176)|all cancers(159;0.182)		CATCTTCTTGTGCTTCTCCAT	0.552000													12	34					0	0	1	0	0
C14orf177	283598	broad.mit.edu	37	14	99182659	99182659	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr14:99182659C>T	ENST00000325812.2	+	3	550	c.131C>T	c.(130-132)tCt>tTt	p.S44F		NM_182560.2	NP_872366.2	Q52M58	CN177_HUMAN	chromosome 14 open reading frame 177	44								p.S44F(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(10)	13		Melanoma(154;0.128)				TGCCCAAGTTCTCAGCACCTG	0.532000													48	81					0	0	1	0	0
GRIN2A	2903	broad.mit.edu	37	16	9943739	9943739	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr16:9943739G>T	ENST00000396573.2	-	6	1511	c.1202C>A	c.(1201-1203)cCg>cAg	p.P401Q	GRIN2A_ENST00000404927.2_Missense_Mutation_p.P401Q|GRIN2A_ENST00000535259.1_Missense_Mutation_p.P244Q|GRIN2A_ENST00000562109.1_Missense_Mutation_p.P401Q|GRIN2A_ENST00000330684.3_Missense_Mutation_p.P401Q|GRIN2A_ENST00000396575.2_Missense_Mutation_p.P401Q	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	401					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	p.P401Q(1)		NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GTTGTCATCCGGCTCACAGTC	0.587000													73	154					2.9056e-39	4.77884e-39	1	1	0
ARRDC4	91947	broad.mit.edu	37	15	98512352	98512352	+	Splice_Site	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr15:98512352G>T	ENST00000268042.6	+	5	789		c.e5-1		ARRDC4_ENST00000538249.1_Splice_Site	NM_183376.2	NP_899232.2	Q8NCT1	ARRD4_HUMAN	arrestin domain containing 4						signal transduction			p.?(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|skin(3)	16	Melanoma(26;0.00539)|Lung NSC(78;0.0125)|all_lung(78;0.0222)		OV - Ovarian serous cystadenocarcinoma(32;0.0417)			TTTCTTTTTAGGAGAAGCTAT	0.393000													9	18					5.50884e-06	6.00014e-06	1	1	0
OR4C13	283092	broad.mit.edu	37	11	49974394	49974394	+	Silent	SNP	C	C	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr11:49974394C>T	ENST00000555099.1	+	1	452	c.420C>T	c.(418-420)agC>agT	p.S140S		NM_001001955.2	NP_001001955.2	Q8NGP0	OR4CD_HUMAN	olfactory receptor, family 4, subfamily C, member 13	140					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S140S(1)		autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	43						ATGTTTGTAGCCTGCTAGTGG	0.468000													136	144					0	0	1	0	0
ATXN2L	11273	broad.mit.edu	37	16	28844674	28844674	+	Splice_Site	SNP	G	G	C			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr16:28844674G>C	ENST00000336783.4	+	14	2121	c.1955_splice	c.e14+1	p.E652_splice	ATXN2L_ENST00000564304.1_Splice_Site_p.E658_splice|RP11-24N18.1_ENST00000563565.1_RNA|ATXN2L_ENST00000570200.1_Splice_Site_p.E652_splice|ATXN2L_ENST00000395547.2_Splice_Site_p.E652_splice|ATXN2L_ENST00000340394.8_Splice_Site_p.E652_splice|ATXN2L_ENST00000325215.6_Splice_Site_p.E652_splice|ATXN2L_ENST00000382686.4_Splice_Site_p.E652_splice|ATXN2L_ENST00000565845.1_3'UTR	NM_007245.3	NP_009176.2	Q8WWM7	ATX2L_HUMAN	ataxin 2-like	652						membrane		p.E652Q(2)		breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						CCCTGTTGCTGAGTGAGTGGA	0.577000													12	19					0	0	1	0	0
ARHGAP10	79658	broad.mit.edu	37	4	148876486	148876486	+	Missense_Mutation	SNP	A	A	G			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr4:148876486A>G	ENST00000336498.3	+	16	1650	c.1411A>G	c.(1411-1413)Atg>Gtg	p.M471V	ARHGAP10_ENST00000414545.2_Missense_Mutation_p.M120V	NM_024605.3	NP_078881.3	A1A4S6	RHG10_HUMAN	Rho GTPase activating protein 10	471	Rho-GAP.				apoptosis|filopodium assembly|regulation of apoptosis|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm|plasma membrane	cytoskeletal adaptor activity|SH3 domain binding	p.M471V(1)		autonomic_ganglia(2)|endometrium(5)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33	all_hematologic(180;0.151)	Renal(17;0.0166)		GBM - Glioblastoma multiforme(119;0.0423)		AGAGCCTCTCATGACCTATGA	0.348000													71	256					0	0	1	0	0
WDR16	146845	broad.mit.edu	37	17	9546400	9546400	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr17:9546400G>A	ENST00000352665.5	+	14	1817	c.1748G>A	c.(1747-1749)gGg>gAg	p.G583E	WDR16_ENST00000299764.5_Missense_Mutation_p.G593E|RP11-55L4.2_ENST00000584676.1_RNA|WDR16_ENST00000396219.3_Missense_Mutation_p.G515E	NM_145054.4	NP_659491.4	Q8N1V2	WDR16_HUMAN	WD repeat domain 16	583						cytoplasm|intracellular membrane-bounded organelle	protein binding	p.G583E(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31						ACTCACGTTGGGGTGGGACAC	0.443000													5	57					0	0	1	0	0
GRIA1	2890	broad.mit.edu	37	5	153030061	153030061	+	Missense_Mutation	SNP	C	C	G			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr5:153030061C>G	ENST00000285900.5	+	4	975	c.632C>G	c.(631-633)gCt>gGt	p.A211G	GRIA1_ENST00000448073.4_Missense_Mutation_p.A221G|GRIA1_ENST00000518783.1_Missense_Mutation_p.A221G|GRIA1_ENST00000521843.2_Missense_Mutation_p.A142G|GRIA1_ENST00000518862.1_3'UTR|GRIA1_ENST00000340592.5_Missense_Mutation_p.A211G|GRIA1_ENST00000518142.1_Missense_Mutation_p.A131G	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	211					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding	p.A211G(2)		NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	CGCCTCAATGCTATCTTGGGC	0.527000													48	56					0	0	1	0	0
ADD3	120	broad.mit.edu	37	10	111872586	111872586	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr10:111872586C>T	ENST00000277900.8	+	3	612	c.247C>T	c.(247-249)Cac>Tac	p.H83Y	ADD3_ENST00000360162.3_Missense_Mutation_p.H83Y|ADD3_ENST00000497125.1_3'UTR|ADD3_ENST00000356080.4_Missense_Mutation_p.H83Y	NM_001121.2	NP_001112.2	Q9UEY8	ADDG_HUMAN	adducin 3 (gamma)	83						cytoskeleton	actin binding|calmodulin binding|metal ion binding|structural constituent of cytoskeleton	p.H83Y(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	29		Breast(234;0.052)|Lung NSC(174;0.223)		Epithelial(162;4.15e-05)|all cancers(201;0.000587)|BRCA - Breast invasive adenocarcinoma(275;0.0742)		GAAGAAAGGCCACAACCCAAC	0.418000													70	69					0	0	1	0	0
TREML2	79865	broad.mit.edu	37	6	41162245	41162245	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr6:41162245G>A	ENST00000483722.1	-	3	888	c.703C>T	c.(703-705)Ctc>Ttc	p.L235F		NM_024807.2	NP_079083.2	Q5T2D2	TRML2_HUMAN	triggering receptor expressed on myeloid cells-like 2	235					T cell activation	cell surface|integral to membrane|plasma membrane	protein binding|receptor activity	p.L294F(1)		breast(1)|central_nervous_system(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)	18	Ovarian(28;0.0418)|Colorectal(47;0.196)					CTGGTGCTGAGGTCCCCAGAC	0.622000													8	9					0	0	1	0	0
F2	2147	broad.mit.edu	37	11	46760614	46760614	+	Silent	SNP	A	A	G			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr11:46760614A>G	ENST00000311907.5	+	13	1727	c.1671A>G	c.(1669-1671)gaA>gaG	p.E557E	F2_ENST00000530231.1_Silent_p.E518E	NM_000506.3	NP_000497.1	P00734	THRB_HUMAN	coagulation factor II (thrombin)	557	High affinity receptor-binding region which is also known as the TP508 peptide.|Peptidase S1.				activation of caspase activity|acute-phase response|blood coagulation, intrinsic pathway|cell surface receptor linked signaling pathway|cytosolic calcium ion homeostasis|fibrinolysis|leukocyte migration|negative regulation of astrocyte differentiation|negative regulation of fibrinolysis|negative regulation of platelet activation|negative regulation of proteolysis|peptidyl-glutamic acid carboxylation|platelet activation|positive regulation of collagen biosynthetic process|positive regulation of protein phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of release of sequestered calcium ion into cytosol|post-translational protein modification|proteolysis|STAT protein import into nucleus|tyrosine phosphorylation of STAT protein	cytosol|endoplasmic reticulum lumen|extracellular space|Golgi lumen|plasma membrane|soluble fraction	calcium ion binding|growth factor activity|serine-type endopeptidase activity|thrombospondin receptor activity	p.E557E(1)		endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	27		all_lung(304;0.000414)|Lung NSC(402;0.0011)		BRCA - Breast invasive adenocarcinoma(625;0.146)	Antihemophilic Factor(DB00025)|Argatroban(DB00278)|Bivalirudin(DB00006)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)|Enoxaparin(DB01225)|Heparin(DB01109)|Lepirudin(DB00001)|Menadione(DB00170)|Proflavine(DB01123)|Simvastatin(DB00641)|Suramin(DB04786)|Warfarin(DB00682)|Ximelagatran(DB04898)	AGCCTGATGAAGGGAAACGAG	0.552000													6	148					0	0	1	0	0
NR1H2	7376	broad.mit.edu	37	19	50885781	50885781	+	Silent	SNP	G	G	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr19:50885781G>A	ENST00000542413.1	+	14	1925	c.498G>A	c.(496-498)tcG>tcA	p.S166S	NR1H2_ENST00000411902.2_Silent_p.S338S|NR1H2_ENST00000599105.1_Silent_p.S391S|NR1H2_ENST00000253727.5_Silent_p.S435S|NR1H2_ENST00000598168.1_Silent_p.S405S|NR1H2_ENST00000593926.1_Silent_p.S435S			P55055	NR1H2_HUMAN	nuclear receptor subfamily 1, group H, member 2	435					negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of lipid transport|negative regulation of pinocytosis|negative regulation of transcription, DNA-dependent|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of triglyceride biosynthetic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding	p.S435S(1)		endometrium(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(2)	8		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186)		CTGTGCACTCGGAGCAGGTCT	0.672000													3	5					0	0	1	0	0
PIEZO2	63895	broad.mit.edu	37	18	10671622	10671622	+	Nonsense_Mutation	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr18:10671622C>A	ENST00000302079.6	-	51	7971	c.7972G>T	c.(7972-7974)Gga>Tga	p.G2658*	PIEZO2_ENST00000538948.1_Nonsense_Mutation_p.G678*|PIEZO2_ENST00000503781.3_Nonsense_Mutation_p.G2721*|PIEZO2_ENST00000285141.4_Nonsense_Mutation_p.G513*|PIEZO2_ENST00000580640.1_Nonsense_Mutation_p.G2746*			Q9H5I5	PIEZ2_HUMAN	piezo-type mechanosensitive ion channel component 2	2721						integral to membrane	ion channel activity	p.G2721*(1)|p.G513*(1)									TCCAGTTCTCCTGTCTCTCGA	0.363000													19	51					7.41877e-09	8.55096e-09	1	1	0
SLC12A1	6557	broad.mit.edu	37	15	48500154	48500154	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr15:48500154G>T	ENST00000396577.3	+	2	453	c.238G>T	c.(238-240)Gct>Tct	p.A80S	SLC12A1_ENST00000380993.3_Missense_Mutation_p.A80S|SLC12A1_ENST00000561031.1_Missense_Mutation_p.A80S|SLC12A1_ENST00000330289.6_Missense_Mutation_p.A80S|SLC12A1_ENST00000558405.1_Missense_Mutation_p.A80S	NM_001184832.1	NP_001171761.1	Q13621	S12A1_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 1	80					potassium ion transport|sodium ion transport	integral to membrane|membrane fraction	sodium:potassium:chloride symporter activity	p.A80S(2)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1)	59		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021)	TGGAGAAACTGCTAAAACAGA	0.428000													21	57					3.7963e-18	4.99789e-18	1	1	0
DLEC1	9940	broad.mit.edu	37	3	38104226	38104226	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr3:38104226C>T	ENST00000308059.6	+	5	1049	c.1028C>T	c.(1027-1029)tCt>tTt	p.S343F	DLEC1_ENST00000452631.2_Missense_Mutation_p.S343F|DLEC1_ENST00000346219.3_Missense_Mutation_p.S343F			Q9Y238	DLEC1_HUMAN	deleted in lung and esophageal cancer 1	343					negative regulation of cell proliferation	cytoplasm		p.S343F(2)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		GGAGGCAAGTCTCTTGTTTTT	0.458000													18	12					0	0	1	0	0
ZNF585B	92285	broad.mit.edu	37	19	37676497	37676497	+	Missense_Mutation	SNP	T	T	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr19:37676497T>A	ENST00000532828.2	-	5	2193	c.1942A>T	c.(1942-1944)Aat>Tat	p.N648Y	ZNF585B_ENST00000531805.1_Missense_Mutation_p.N593Y|ZNF585B_ENST00000527838.1_3'UTR|ZNF585B_ENST00000312908.5_Missense_Mutation_p.N236Y|CTC-454I21.3_ENST00000585860.2_Intron	NM_152279.3	NP_689492.3	Q52M93	Z585B_HUMAN	zinc finger protein 585B	648					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	p.N648Y(1)		NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TTACTGAGATTTGACCTGCCA	0.473000													18	25					0	0	1	0	0
COQ4	51117	broad.mit.edu	37	9	131087468	131087468	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr9:131087468G>T	ENST00000300452.3	+	3	572	c.249G>T	c.(247-249)aaG>aaT	p.K83N	COQ4_ENST00000372875.3_Missense_Mutation_p.K83N	NM_016035.3	NP_057119.2	Q9Y3A0	COQ4_HUMAN	coenzyme Q4	83					ubiquinone biosynthetic process	mitochondrial inner membrane		p.K83N(1)		endometrium(4)|large_intestine(1)|lung(4)	9						GCACCCTGAAGGTCCTCAGGG	0.567000													17	26					6.94344e-10	8.13375e-10	1	1	0
KCNK9	51305	broad.mit.edu	37	8	140631035	140631035	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr8:140631035C>A	ENST00000520439.1	-	2	654	c.591G>T	c.(589-591)ttG>ttT	p.L197F	KCNK9_ENST00000303015.1_Missense_Mutation_p.L197F			Q9NPC2	KCNK9_HUMAN	potassium channel, subfamily K, member 9	197						integral to membrane|membrane fraction	potassium channel activity|voltage-gated ion channel activity	p.L197F(1)		NS(1)|endometrium(9)|kidney(1)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)	43	all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;0.134)	BRCA - Breast invasive adenocarcinoma(115;0.0855)			CAATGGTAGTCAACGTGATGA	0.577000													29	72					1.8613e-05	2.01203e-05	1	1	0
EBF3	253738	broad.mit.edu	37	10	131671816	131671816	+	Silent	SNP	G	G	T	rs150383257		TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr10:131671816G>T	ENST00000368648.3	-	8	753	c.681C>A	c.(679-681)gcC>gcA	p.A227A	EBF3_ENST00000355311.5_Silent_p.A227A	NM_001005463.2	NP_001005463.1	Q9H4W6	COE3_HUMAN	early B-cell factor 3	227					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding|protein binding	p.A227A(2)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	44		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)		OV - Ovarian serous cystadenocarcinoma(35;0.00513)		TGTCTGACACGGCCAGCACGT	0.522000													14	24					2.35188e-11	2.82423e-11	1	1	0
MUC16	94025	broad.mit.edu	37	19	9074611	9074611	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr19:9074611G>T	ENST00000397910.4	-	3	13038	c.12835C>A	c.(12835-12837)Cac>Aac	p.H4279N		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4281	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.H4279N(2)		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						CCCATGATGTGGGAGGTAACC	0.498000													214	80					1.3228e-122	2.48133e-122	1	1	0
ABCB5	340273	broad.mit.edu	37	7	20698196	20698196	+	Missense_Mutation	SNP	T	T	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr7:20698196T>A	ENST00000404938.2	+	14	2256	c.1604T>A	c.(1603-1605)aTt>aAt	p.I535N	ABCB5_ENST00000443026.2_Missense_Mutation_p.I90N|ABCB5_ENST00000406935.1_Missense_Mutation_p.I90N|ABCB5_ENST00000258738.6_Missense_Mutation_p.I90N	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	90	ABC transmembrane type-1.				regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity	p.I90N(2)|p.I535N(1)		breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						AGGATCGCAATTGCTCGTGCC	0.438000													33	145					0	0	1	0	0
SH3RF2	153769	broad.mit.edu	37	5	145393468	145393468	+	Silent	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr5:145393468C>A	ENST00000511217.1	+	4	955	c.903C>A	c.(901-903)atC>atA	p.I301I	SH3RF2_ENST00000359120.4_Silent_p.I301I			Q8TEC5	SH3R2_HUMAN	SH3 domain containing ring finger 2	301							ligase activity|protein phosphatase 1 binding|zinc ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGTTTTCCATCACAACAGCCT	0.577000													108	430					5.01931e-35	8.04772e-35	1	1	0
PIEZO2	63895	broad.mit.edu	37	18	10672706	10672706	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr18:10672706C>T	ENST00000302079.6	-	50	7797	c.7798G>A	c.(7798-7800)Ggg>Agg	p.G2600R	PIEZO2_ENST00000538948.1_Missense_Mutation_p.G620R|PIEZO2_ENST00000503781.3_Missense_Mutation_p.G2663R|PIEZO2_ENST00000581680.1_5'UTR|PIEZO2_ENST00000285141.4_Missense_Mutation_p.G455R|PIEZO2_ENST00000580640.1_Missense_Mutation_p.G2688R			Q9H5I5	PIEZ2_HUMAN	piezo-type mechanosensitive ion channel component 2	2663						integral to membrane	ion channel activity	p.G2663R(1)|p.G455R(1)									GCCAGGAACCCCAGACTTGGG	0.463000													8	139					0	0	1	0	0
OR2M4	26245	broad.mit.edu	37	1	248402554	248402554	+	Silent	SNP	T	T	C			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr1:248402554T>C	ENST00000306687.1	+	1	324	c.324T>C	c.(322-324)ctT>ctC	p.L108L		NM_017504.1	NP_059974.1	Q96R27	OR2M4_HUMAN	olfactory receptor, family 2, subfamily M, member 4	108					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L108L(1)		NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(27)|skin(3)|upper_aerodigestive_tract(2)	50	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			TGTCCCTGCTTGGAGCTGAAT	0.463000													56	88					0	0	1	0	0
SCNN1A	6337	broad.mit.edu	37	12	6463650	6463650	+	Silent	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr12:6463650C>A	ENST00000358945.3	-	7	1754	c.1314G>T	c.(1312-1314)cgG>cgT	p.R438R	SCNN1A_ENST00000396966.2_Silent_p.R438R|SCNN1A_ENST00000538979.1_5'UTR|SCNN1A_ENST00000543768.1_Silent_p.R461R|SCNN1A_ENST00000540037.1_Silent_p.R138R|SCNN1A_ENST00000360168.3_Silent_p.R497R|SCNN1A_ENST00000228916.2_Silent_p.R438R			P37088	SCNNA_HUMAN	sodium channel, non-voltage-gated 1 alpha subunit	438					excretion|response to stimulus|sensory perception of taste	apical plasma membrane	WW domain binding	p.R438R(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(2)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	27					Amiloride(DB00594)|Triamterene(DB00384)	CGTTCTGGGGCCGCGGATAGA	0.587000													21	16					1.16021e-09	1.35358e-09	1	1	0
MFSD8	256471	broad.mit.edu	37	4	128863280	128863280	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr4:128863280C>A	ENST00000296468.3	-	6	600	c.473G>T	c.(472-474)gGt>gTt	p.G158V	MFSD8_ENST00000541133.1_Missense_Mutation_p.G113V|MFSD8_ENST00000513559.1_Missense_Mutation_p.G113V|MFSD8_ENST00000515130.1_5'UTR	NM_152778.2	NP_689991.1	Q8NHS3	MFSD8_HUMAN	major facilitator superfamily domain containing 8	158					cell death|transmembrane transport	integral to membrane|lysosomal membrane		p.G158F(1)		cervix(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)	23						GGAAGTAGCACCAGCAGTATA	0.358000													54	96					1.53134e-21	2.12316e-21	1	1	0
TMLHE	55217	broad.mit.edu	37	X	154774874	154774874	+	Missense_Mutation	SNP	T	T	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chrX:154774874T>A	ENST00000334398.3	-	2	209	c.64A>T	c.(64-66)Ata>Tta	p.I22L	TMLHE_ENST00000369439.4_Missense_Mutation_p.I22L|TMLHE-AS1_ENST00000452506.1_RNA	NM_018196.3	NP_060666.1	Q9NVH6	TMLH_HUMAN	trimethyllysine hydroxylase, epsilon	22					carnitine biosynthetic process	mitochondrial matrix	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|trimethyllysine dioxygenase activity	p.I22L(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	20	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Succinic acid(DB00139)|Vitamin C(DB00126)	GCCGGATATATGACTCCTCCC	0.468000													126	511					0	0	1	0	0
FCRL5	83416	broad.mit.edu	37	1	157516811	157516811	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr1:157516811C>A	ENST00000361835.3	-	3	386	c.229G>T	c.(229-231)Gtt>Ttt	p.V77F	FCRL5_ENST00000368191.3_Intron|FCRL5_ENST00000368188.2_Missense_Mutation_p.V77F|FCRL5_ENST00000368189.3_Missense_Mutation_p.V77F|FCRL5_ENST00000356953.4_Missense_Mutation_p.V77F|FCRL5_ENST00000368190.3_Missense_Mutation_p.V77F	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	77	Ig-like C2-type 1.					integral to membrane|plasma membrane	receptor activity	p.V77F(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				GATTCCTGAACCTCAAGGATA	0.483000													21	34					0.000229342	0.000241989	1	1	0
CDH23	64072	broad.mit.edu	37	10	73544838	73544838	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr10:73544838C>T	ENST00000224721.6	+	42	5713	c.5708C>T	c.(5707-5709)gCc>gTc	p.A1903V		NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	1898	Cadherin 18.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding	p.A1903V(1)		NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						CGCGAGCGGGCCTTCTTCATC	0.597000													17	26					0	0	1	0	0
OR2G2	81470	broad.mit.edu	37	1	247752207	247752207	+	Silent	SNP	C	C	T	rs146695930	byFrequency	TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr1:247752207C>T	ENST00000320065.1	+	1	546	c.546C>T	c.(544-546)tgC>tgT	p.C182C	RP11-978I15.10_ENST00000435333.1_RNA|RP11-978I15.10_ENST00000446347.1_RNA	NM_001001915.1	NP_001001915.1	Q8NGZ5	OR2G2_HUMAN	olfactory receptor, family 2, subfamily G, member 2	182					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.C182C(2)		endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			ATTTCATCTGCGAGGTCCCTG	0.537000													92	273					0	0	1	0	0
ANK1	286	broad.mit.edu	37	8	41552150	41552150	+	Missense_Mutation	SNP	G	G	C			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr8:41552150G>C	ENST00000396942.1	-	28	3370	c.3287C>G	c.(3286-3288)cCg>cGg	p.P1096R	ANK1_ENST00000352337.4_Missense_Mutation_p.P1096R|ANK1_ENST00000347528.4_Missense_Mutation_p.P1096R|ANK1_ENST00000289734.7_Missense_Mutation_p.P1096R|ANK1_ENST00000396945.1_Missense_Mutation_p.P1096R|ANK1_ENST00000265709.8_Missense_Mutation_p.P1137R|ANK1_ENST00000379758.2_Missense_Mutation_p.P1096R			P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	1096					axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton	p.P1096L(1)|p.P1137L(1)|p.P1137R(1)|p.P1096R(1)		breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			GGCATTCTCCGGGAACGTTGC	0.632000													7	4					0	0	1	0	0
NWD1	284434	broad.mit.edu	37	19	16925914	16925914	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr19:16925914C>A	ENST00000552788.1	+	18	4469	c.4469C>A	c.(4468-4470)cCc>cAc	p.P1490H	NWD1_ENST00000339803.6_Missense_Mutation_p.P1355H|NWD1_ENST00000549814.1_Missense_Mutation_p.P1448H|NWD1_ENST00000524140.2_3'UTR|NWD1_ENST00000523826.1_Missense_Mutation_p.P1284H|NWD1_ENST00000379808.3_3'UTR			Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	1490							ATP binding	p.P1355H(1)		NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						TTCATTGCCCCCACCAGGCAT	0.507000													107	17					2.46087e-49	4.21653e-49	1	1	0
PAM	5066	broad.mit.edu	37	5	102343170	102343170	+	Missense_Mutation	SNP	G	G	T	rs148652099		TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr5:102343170G>T	ENST00000438793.3	+	19	2494	c.2024G>T	c.(2023-2025)gGg>gTg	p.G675V	PAM_ENST00000346918.2_Missense_Mutation_p.G675V|PAM_ENST00000304400.7_Missense_Mutation_p.G675V|PAM_ENST00000455264.2_Missense_Mutation_p.G675V|PAM_ENST00000274392.9_Missense_Mutation_p.G578V|PAM_ENST00000348126.2_Missense_Mutation_p.G568V|PAM_ENST00000379787.4_Missense_Mutation_p.G55V	NM_000919.3|NM_001177306.1|NM_138766.2	NP_000910.2|NP_001170777.1|NP_620121.1	P19021	AMD_HUMAN	peptidylglycine alpha-amidating monooxygenase	675	Peptidyl-alpha-hydroxyglycine alpha- amidating lyase (By similarity).				peptide metabolic process|protein modification process	extracellular region|integral to membrane|stored secretory granule	L-ascorbic acid binding|peptidylamidoglycolate lyase activity|peptidylglycine monooxygenase activity|protein binding	p.G675V(2)		endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	25		all_cancers(142;3.12e-07)|all_epithelial(76;3.48e-10)|Prostate(80;0.00914)|Lung NSC(167;0.0213)|Ovarian(225;0.024)|Colorectal(57;0.0251)|all_lung(232;0.0284)		Epithelial(69;1.1e-13)|COAD - Colon adenocarcinoma(37;0.0127)	Vitamin C(DB00126)	GAGTCTTCAGGGAGCAGTCCT	0.438000													28	66					2.05212e-20	2.80456e-20	1	1	0
FLG2	388698	broad.mit.edu	37	1	152329021	152329021	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr1:152329021G>A	ENST00000388718.5	-	3	1313	c.1241C>T	c.(1240-1242)tCc>tTc	p.S414F	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	414	Ser-rich.						calcium ion binding|structural molecule activity	p.S414F(1)		NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ATCACATTTGGAAAATTCATT	0.423000													45	158					0	0	1	0	0
MYPN	84665	broad.mit.edu	37	10	69909858	69909858	+	Missense_Mutation	SNP	T	T	C			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr10:69909858T>C	ENST00000358913.5	+	6	1795	c.1307T>C	c.(1306-1308)gTg>gCg	p.V436A	MYPN_ENST00000373675.3_Missense_Mutation_p.V436A|MYPN_ENST00000540630.1_Missense_Mutation_p.V436A|MYPN_ENST00000354393.2_Missense_Mutation_p.V161A	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN	myopalladin	436	Ig-like 2.|Interaction with CARP.					nucleus|sarcomere	actin binding	p.V436A(1)		breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						GCAGCTCCTGTGTTTACAAAG	0.363000													31	97					0	0	1	0	0
N6AMT1	29104	broad.mit.edu	37	21	30252218	30252218	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr21:30252218G>T	ENST00000303775.5	-	4	395	c.370C>A	c.(370-372)Ccc>Acc	p.P124T	N6AMT1_ENST00000351429.3_Intron	NM_013240.4	NP_037372.3	Q9Y5N5	HEMK2_HUMAN	N-6 adenine-specific DNA methyltransferase 1 (putative)	124	Substrate binding (By similarity).				positive regulation of cell growth	protein complex	nucleic acid binding|protein binding|protein methyltransferase activity	p.P124T(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)	12						ACTACATAGGGGGGATTAAAC	0.308000													37	202					6.08268e-21	8.3728e-21	1	1	0
ITK	3702	broad.mit.edu	37	5	156638359	156638359	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr5:156638359G>T	ENST00000422843.3	+	3	457	c.305G>T	c.(304-306)tGg>tTg	p.W102L	CTB-4E7.1_ENST00000519375.1_RNA	NM_005546.3	NP_005537.3	Q08881	ITK_HUMAN	IL2-inducible T-cell kinase	102	PH.				cellular defense response|intracellular signal transduction|T cell receptor signaling pathway	cytosol|plasma membrane	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding	p.W102L(1)		breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(25)|ovary(8)|prostate(2)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	70	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.1)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CGGCAGCGCTGGGTGCTGGCC	0.488000			T	SYK	peripheral T-cell lymphoma								28	95					1.22674e-20	1.68055e-20	1	1	0
ITGA11	22801	broad.mit.edu	37	15	68596108	68596108	+	Splice_Site	SNP	A	A	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr15:68596108A>T	ENST00000423218.2	-	29	3594		c.e29+1		ITGA11_ENST00000315757.7_Splice_Site			Q9UKX5	ITA11_HUMAN	integrin, alpha 11						cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development	integrin complex	collagen binding|receptor activity	p.?(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52					Tirofiban(DB00775)	CAGGGCCCTCACCTTCCACAG	0.662000													16	35					0	0	1	0	0
NPY2R	4887	broad.mit.edu	37	4	156135191	156135191	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr4:156135191C>A	ENST00000329476.3	+	2	589	c.100C>A	c.(100-102)Cct>Act	p.P34T	NPY2R_ENST00000506608.1_Missense_Mutation_p.P34T	NM_000910.2	NP_000901.1	P49146	NPY2R_HUMAN	neuropeptide Y receptor Y2	34					cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis	integral to plasma membrane	calcium channel regulator activity	p.P34T(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1)	36	all_hematologic(180;0.24)	Renal(120;0.0854)				TGAACTGGTCCCTGACCCTGA	0.478000													33	73					4.65686e-17	6.0476e-17	1	1	0
FAM181B	220382	broad.mit.edu	37	11	82444630	82444630	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr11:82444630C>T	ENST00000329203.3	-	1	276	c.142G>A	c.(142-144)Ggt>Agt	p.G48S		NM_175885.3	NP_787081.2	A6NEQ2	F181B_HUMAN	family with sequence similarity 181, member B	48								p.G48S(1)		large_intestine(1)|lung(2)|prostate(1)	4						AGCAGCGCACCCGCCGGAGCC	0.692000													3	6					0	0	1	0	0
ITSN1	6453	broad.mit.edu	37	21	35124178	35124178	+	Missense_Mutation	SNP	A	A	C			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr21:35124178A>C	ENST00000381318.3	+	7	878	c.590A>C	c.(589-591)aAa>aCa	p.K197T	ITSN1_ENST00000379960.5_Missense_Mutation_p.K197T|ITSN1_ENST00000399367.3_Missense_Mutation_p.K197T|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000381291.4_Missense_Mutation_p.K197T|ITSN1_ENST00000399338.4_Missense_Mutation_p.K197T|ITSN1_ENST00000399355.2_Missense_Mutation_p.K197T|ITSN1_ENST00000399353.1_Missense_Mutation_p.K160T|ITSN1_ENST00000399352.1_Missense_Mutation_p.K197T|ITSN1_ENST00000381285.4_Missense_Mutation_p.K197T|ITSN1_ENST00000399326.3_Missense_Mutation_p.K197T|ITSN1_ENST00000399349.1_Missense_Mutation_p.K197T|ITSN1_ENST00000437442.2_Missense_Mutation_p.K197T	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	197					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity	p.K197T(1)		breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						CTAAACACTAAATTACAAAAG	0.338000													104	76					0	0	1	0	0
CACNA2D4	93589	broad.mit.edu	37	12	1953620	1953620	+	Silent	SNP	T	T	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr12:1953620T>A	ENST00000382722.5	-	25	2780	c.2418A>T	c.(2416-2418)tcA>tcT	p.S806S	CACNA2D4_ENST00000539048.2_5'UTR|CACNA2D4_ENST00000588077.1_Silent_p.S742S|CACNA2D4_ENST00000587995.1_Silent_p.S781S|CACNA2D4_ENST00000586184.1_Silent_p.S806S|CACNA2D4_ENST00000585708.1_Silent_p.S742S|CACNA2D4_ENST00000585732.1_Silent_p.S667S	NM_172364.4	NP_758952.4	Q7Z3S7	CA2D4_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 4	806						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity	p.S806S(2)		endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		CAGGATGCTCTGAGGCCTGGC	0.632000													14	22					0	0	1	0	0
TEX11	56159	broad.mit.edu	37	X	69964040	69964040	+	Missense_Mutation	SNP	T	T	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chrX:69964040T>A	ENST00000395889.2	-	11	922	c.767A>T	c.(766-768)aAg>aTg	p.K256M	TEX11_ENST00000344304.3_Missense_Mutation_p.K256M|TEX11_ENST00000374333.2_Missense_Mutation_p.K241M	NM_001003811.1	NP_001003811.1	Q8IYF3	TEX11_HUMAN	testis expressed 11	256							protein binding	p.K241M(1)		breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(13)|ovary(3)|prostate(3)|skin(3)	48	Renal(35;0.156)					AGTAGATTTCTTATCCATCTT	0.239000													15	10					0	0	1	0	0
COL21A1	81578	broad.mit.edu	37	6	55922481	55922481	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr6:55922481G>A	ENST00000244728.5	-	30	3245	c.2848C>T	c.(2848-2850)Ccg>Tcg	p.P950S	COL21A1_ENST00000370808.2_Missense_Mutation_p.P316S|COL21A1_ENST00000370819.1_Missense_Mutation_p.P947S|COL21A1_ENST00000467045.1_5'UTR|COL21A1_ENST00000535941.1_Missense_Mutation_p.P950S	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1	950					cell adhesion	collagen|cytoplasm	structural molecule activity	p.P950S(2)		breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			TTTCTGAACGGATCTCTTCTG	0.473000													33	45					0	0	1	0	0
OR1A1	8383	broad.mit.edu	37	17	3119135	3119135	+	Nonsense_Mutation	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr17:3119135C>A	ENST00000304094.1	+	1	221	c.221C>A	c.(220-222)tCa>tAa	p.S74*		NM_014565.2	NP_055380.2	Q9P1Q5	OR1A1_HUMAN	olfactory receptor, family 1, subfamily A, member 1	74					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	23						ATCTTCTTCTCATCGGTAACC	0.483000													316	439					1.11038e-139	2.11045e-139	1	1	0
TAF9B	51616	broad.mit.edu	37	X	77388927	77388927	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chrX:77388927G>A	ENST00000341864.5	-	6	594	c.500C>T	c.(499-501)tCt>tTt	p.S167F		NM_015975.4	NP_057059.2	Q9HBM6	TAF9B_HUMAN	TAF9B RNA polymerase II, TATA box binding protein (TBP)-associated factor, 31kDa	167					negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cell growth|transcription initiation, DNA-dependent	transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	14						ATTTGGGACAGACACCGTTTG	0.418000													15	552					0	0	1	0	0
OR4C46	119749	broad.mit.edu	37	11	51515672	51515672	+	Missense_Mutation	SNP	A	A	G	rs140334906		TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr11:51515672A>G	ENST00000328188.1	+	1	391	c.391A>G	c.(391-393)Atg>Gtg	p.M131V		NM_001004703.1	NP_001004703.1	A6NHA9	O4C46_HUMAN	olfactory receptor, family 4, subfamily C, member 46	131					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.M131V(1)		endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	48						CTTGCACTATATGACTATCAT	0.478000													180	192					0	0	1	0	0
KIF17	57576	broad.mit.edu	37	1	21016808	21016808	+	Silent	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr1:21016808G>T	ENST00000247986.2	-	7	1564	c.1254C>A	c.(1252-1254)gcC>gcA	p.A418A	KIF17_ENST00000490034.1_5'UTR|KIF17_ENST00000400463.3_Silent_p.A418A|KIF17_ENST00000375044.1_Silent_p.A318A			Q9P2E2	KIF17_HUMAN	kinesin family member 17	418					microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding	p.A418A(1)		NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		CTTTCAGCCGGGCCAGGCGCT	0.562000													8	1					1.3612e-06	1.51421e-06	1	1	0
FIGN	55137	broad.mit.edu	37	2	164468190	164468190	+	Missense_Mutation	SNP	T	T	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr2:164468190T>A	ENST00000333129.3	-	3	466	c.152A>T	c.(151-153)cAg>cTg	p.Q51L	FIGN_ENST00000482917.1_5'UTR|FIGN_ENST00000409634.1_Intron	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN	fidgetin	51						nuclear matrix	ATP binding|nucleoside-triphosphatase activity	p.Q51L(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						CCAGGCGTACTGATAGGTGCG	0.502000													181	342					0	0	1	0	0
RFPL4B	442247	broad.mit.edu	37	6	112671067	112671067	+	Nonsense_Mutation	SNP	C	C	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr6:112671067C>T	ENST00000441065.2	+	3	469	c.157C>T	c.(157-159)Cga>Tga	p.R53*	RP11-506B6.6_ENST00000587816.1_RNA	NM_001013734.2	NP_001013756.2	Q6ZWI9	RFPLB_HUMAN	ret finger protein-like 4B	53							zinc ion binding	p.R53*(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|skin(1)	14		all_cancers(87;9.44e-05)|all_hematologic(75;0.000114)|all_epithelial(87;0.00265)|Colorectal(196;0.0209)		all cancers(137;0.0202)|OV - Ovarian serous cystadenocarcinoma(136;0.0477)|Epithelial(106;0.0646)|GBM - Glioblastoma multiforme(226;0.0866)|BRCA - Breast invasive adenocarcinoma(108;0.244)		CCCCTTGTGTCGAGACGTGGT	0.463000													3	38					0	0	1	0	0
INPP4B	8821	broad.mit.edu	37	4	143129683	143129683	+	Splice_Site	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr4:143129683C>A	ENST00000513000.1	-	15	1401		c.e15-1		INPP4B_ENST00000262992.4_Splice_Site|INPP4B_ENST00000308502.4_Splice_Site|INPP4B_ENST00000509777.1_Splice_Site|INPP4B_ENST00000508116.1_Splice_Site	NM_003866.2	NP_003857.2	O15327	INP4B_HUMAN	inositol polyphosphate-4-phosphatase, type II, 105kDa						signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity	p.?(1)		breast(3)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(29)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58	all_hematologic(180;0.158)					AAAGAGGACCCTGATGGAAAC	0.303000													11	26					0.00136819	0.00142015	1	1	0
ADAMTS5	11096	broad.mit.edu	37	21	28302275	28302275	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr21:28302275C>A	ENST00000284987.5	-	7	2276	c.2155G>T	c.(2155-2157)Gac>Tac	p.D719Y	AP001601.2_ENST00000426771.1_RNA	NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	719	Cys-rich.				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding	p.D719Y(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						CCGCACTTGTCATACTGCAGC	0.458000													78	443					2.70612e-23	3.82589e-23	1	1	0
BANK1	55024	broad.mit.edu	37	4	102751288	102751288	+	Nonsense_Mutation	SNP	C	C	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr4:102751288C>T	ENST00000504592.1	+	6	767	c.349C>T	c.(349-351)Caa>Taa	p.Q117*	BANK1_ENST00000444316.2_Nonsense_Mutation_p.Q102*|BANK1_ENST00000508653.1_Intron|BANK1_ENST00000428908.1_Intron|BANK1_ENST00000322953.4_Nonsense_Mutation_p.Q132*			Q8NDB2	BANK1_HUMAN	B-cell scaffold protein with ankyrin repeats 1	132	Interaction with ITPR2.				B cell activation			p.Q132*(1)		NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|liver(2)|lung(16)|ovary(2)|skin(2)|urinary_tract(1)	44		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)		AAATATCTCTCAAAGCAGATG	0.373000													44	85					0	0	1	0	0
SERPINB11	89778	broad.mit.edu	37	18	61387285	61387285	+	RNA	SNP	C	C	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr18:61387285C>T	ENST00000544088.1	+	0	576				SERPINB11_ENST00000382749.5_RNA|SERPINB11_ENST00000536691.1_RNA|SERPINB11_ENST00000538847.1_RNA|SERPINB11_ENST00000489748.1_RNA	NM_080475.2	NP_536723.2	Q96P15	SPB11_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 11 (gene/pseudogene)						regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity	p.P172S(1)		breast(1)|cervix(1)|kidney(1)|lung(3)	6		Esophageal squamous(42;0.129)				CACAATTGACCCTTCATCTGT	0.333000													64	72					0	0	1	0	0
OR5W2	390148	broad.mit.edu	37	11	55681287	55681287	+	Missense_Mutation	SNP	T	T	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr11:55681287T>A	ENST00000344514.1	-	1	771	c.772A>T	c.(772-774)Atg>Ttg	p.M258L		NM_001001960.1	NP_001001960.1	Q8NH69	OR5W2_HUMAN	olfactory receptor, family 5, subfamily W, member 2	258					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.M258L(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(28)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						CGGAAATACATAAAGAGCAGA	0.438000													23	81					0	0	1	0	0
TLE4	7091	broad.mit.edu	37	9	82242321	82242321	+	Silent	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr9:82242321G>T	ENST00000376520.4	+	6	1176	c.348G>T	c.(346-348)cgG>cgT	p.R116R	TLE4_ENST00000265284.6_Intron|TLE4_ENST00000455913.1_3'UTR|TLE4_ENST00000376552.2_Silent_p.R116R|TLE4_ENST00000376544.3_Silent_p.R116R|TLE4_ENST00000376534.4_5'UTR|TLE4_ENST00000376537.4_Silent_p.R116R			O60756	BCE1_HUMAN	transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila)	0								p.R116R(2)		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						CTGTGGAACGGGCCAAGCAGG	0.453000													226	240					4.96009e-127	9.36544e-127	1	1	0
KTN1	3895	broad.mit.edu	37	14	56122831	56122831	+	Missense_Mutation	SNP	G	G	C			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr14:56122831G>C	ENST00000416613.1	+	28	2945	c.2873G>C	c.(2872-2874)aGc>aCc	p.S958T	KTN1_ENST00000395308.1_Missense_Mutation_p.S935T|KTN1_ENST00000438792.2_Missense_Mutation_p.S958T|KTN1_ENST00000395314.3_Missense_Mutation_p.S958T|KTN1_ENST00000395309.3_Missense_Mutation_p.S958T|KTN1_ENST00000413890.2_Missense_Mutation_p.S935T|KTN1_ENST00000395311.1_Missense_Mutation_p.S935T|KTN1_ENST00000554507.1_Missense_Mutation_p.S253T			Q86UP2	KTN1_HUMAN	kinectin 1 (kinesin receptor)	958					microtubule-based movement	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction		p.S958T(1)		breast(4)|central_nervous_system(1)|large_intestine(8)|lung(1)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	19						GATCTTTCTAGCAAAACACAG	0.303000			T	RET	papillary thryoid								14	45					0	0	1	0	0
CYLC1	1538	broad.mit.edu	37	X	83129105	83129105	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chrX:83129105G>T	ENST00000329312.4	+	4	1426	c.1389G>T	c.(1387-1389)aaG>aaT	p.K463N		NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head cytoskeleton 1	463					cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity	p.K462N(1)|p.K463N(1)		NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						ATGAAAAGAAGGGGAAGAAAG	0.353000													37	37					2.61675e-31	3.97359e-31	1	1	0
ANK2	287	broad.mit.edu	37	4	114276963	114276963	+	Missense_Mutation	SNP	T	T	C			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr4:114276963T>C	ENST00000357077.4	+	38	7242	c.7189T>C	c.(7189-7191)Tca>Cca	p.S2397P	ANK2_ENST00000264366.6_Missense_Mutation_p.S2364P|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000510275.2_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	2364					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	p.S2397P(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		AGGAACTGAATCAAAACCTCA	0.502000													60	76					0	0	1	0	0
CLN3	1201	broad.mit.edu	37	16	28498827	28498827	+	Nonsense_Mutation	SNP	C	C	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr16:28498827C>T	ENST00000357806.7	-	5	553	c.330G>A	c.(328-330)tgG>tgA	p.W110*	CLN3_ENST00000360019.2_Missense_Mutation_p.G137E|CLN3_ENST00000359984.7_Missense_Mutation_p.G137E|CLN3_ENST00000357076.5_Missense_Mutation_p.G137E|CLN3_ENST00000333496.9_Missense_Mutation_p.G113E|CLN3_ENST00000535392.1_Missense_Mutation_p.G59E|CLN3_ENST00000355477.5_Missense_Mutation_p.G137E|CLN3_ENST00000569430.1_Missense_Mutation_p.G137E|CLN3_ENST00000357857.9_Missense_Mutation_p.G83E|CLN3_ENST00000395653.4_Missense_Mutation_p.G37E|CLN3_ENST00000568224.1_Missense_Mutation_p.G59E|CLN3_ENST00000565316.1_Missense_Mutation_p.G137E|CLN3_ENST00000354630.5_Missense_Mutation_p.G137E|CLN3_ENST00000567963.1_Missense_Mutation_p.G137E			Q13286	CLN3_HUMAN	ceroid-lipofuscinosis, neuronal 3	0					amyloid precursor protein catabolic process|arginine transport|associative learning|autophagic vacuole fusion|cell death|cellular amino acid metabolic process|cytosolic calcium ion homeostasis|galactosylceramide metabolic process|globoside metabolic process|glucosylceramide metabolic process|ionotropic glutamate receptor signaling pathway|lysosomal lumen acidification|lysosomal lumen pH elevation|negative regulation of catalytic activity|negative regulation of macroautophagy|negative regulation of neuron apoptosis|negative regulation of proteolysis|neuromuscular process controlling balance|neurotransmitter metabolic process|protein catabolic process|protein folding|protein processing|receptor-mediated endocytosis|regulation of action potential|sphingomyelin metabolic process|vacuolar transport	autophagic vacuole|caveola|cytosol|early endosome|Golgi membrane|Golgi stack|integral to endoplasmic reticulum membrane|late endosome|lysosomal membrane|membrane fraction|mitochondrion|neuron projection|nucleus|synaptic vesicle|trans-Golgi network	unfolded protein binding	p.G137E(1)		breast(1)|large_intestine(2)|lung(11)|upper_aerodigestive_tract(1)	15						GACGAAGCTTCCAGCAGCACA	0.592000													8	33					0	0	1	0	0
KMT2D	8085	broad.mit.edu	37	12	49448739	49448739	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr12:49448739C>A	ENST00000301067.7	-	2	119	c.120G>T	c.(118-120)gaG>gaT	p.E40D		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D									p.E40D(2)									GGACAGAGACCTCTCCCACAT	0.532000													163	232					1.02705e-64	1.85385e-64	1	1	0
ZNF208	7757	broad.mit.edu	37	19	22155657	22155657	+	Missense_Mutation	SNP	C	C	G			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr19:22155657C>G	ENST00000397126.4	-	4	2327	c.2179G>C	c.(2179-2181)Ggc>Cgc	p.G727R	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	NM_007153.3	NP_009084.2			zinc finger protein 208									p.G627R(2)|p.G727R(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				AAGCTTTTGCCACATTCTTCA	0.378000													45	124					0	0	1	0	0
KEL	3792	broad.mit.edu	37	7	142639572	142639572	+	Silent	SNP	C	C	A	rs140592001	byFrequency	TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr7:142639572C>A	ENST00000355265.2	-	18	2460	c.1986G>T	c.(1984-1986)ctG>ctT	p.L662L		NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	662					proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding	p.L662L(1)		central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					CCAGGCTGGGCAGGACAGTCT	0.587000													12	35					9.16793e-09	1.05248e-08	1	1	0
PRKAB1	5564	broad.mit.edu	37	12	120112187	120112187	+	Nonsense_Mutation	SNP	C	C	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr12:120112187C>T	ENST00000229328.5	+	4	952	c.460C>T	c.(460-462)Caa>Taa	p.Q154*	PRKAB1_ENST00000541640.1_Nonsense_Mutation_p.Q154*|PRKAB1_ENST00000540121.1_5'UTR	NM_006253.4	NP_006244.2	Q9Y478	AAKB1_HUMAN	protein kinase, AMP-activated, beta 1 non-catalytic subunit	154					cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid oxidation	cytosol		p.Q154*(1)		endometrium(2)|large_intestine(3)|lung(5)	10	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.166)	Adenosine monophosphate(DB00131)|Metformin(DB00331)	CAACATCATTCAAGTGAAGAA	0.413000													7	92					0	0	1	0	0
XKR4	114786	broad.mit.edu	37	8	56436303	56436303	+	Silent	SNP	A	A	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr8:56436303A>T	ENST00000327381.5	+	3	1570	c.1470A>T	c.(1468-1470)ccA>ccT	p.P490P		NM_052898.1	NP_443130.1	Q5GH76	XKR4_HUMAN	XK, Kell blood group complex subunit-related family, member 4	490						integral to membrane		p.P490P(1)		NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34			Epithelial(17;0.000117)|all cancers(17;0.000836)			TTGCCATTCCAGCGCTGTGTG	0.453000													38	22					0	0	1	0	0
REG1P	5969	broad.mit.edu	37	2	79364039	79364039	+	RNA	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr2:79364039G>T	ENST00000444841.1	-	0	299																											CTGAATTCATGTTCTGGCAGT	0.493000													50	124					3.53049e-34	5.58264e-34	1	1	0
SLC5A8	160728	broad.mit.edu	37	12	101573854	101573854	+	Missense_Mutation	SNP	A	A	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr12:101573854A>T	ENST00000536262.2	-	10	1744	c.1186T>A	c.(1186-1188)Tgt>Agt	p.C396S		NM_145913.3	NP_666018.3	Q8N695	SC5A8_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8	396					apoptosis|sodium ion transport	apical plasma membrane|integral to membrane	monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity	p.C396S(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						ATTCCAATACACAGGGCTCCA	0.433000													157	289					0	0	1	0	0
SIGLEC11	114132	broad.mit.edu	37	19	50462124	50462124	+	Missense_Mutation	SNP	G	G	C	rs149136670	byFrequency	TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr19:50462124G>C	ENST00000447370.2	-	7	1229	c.1139C>G	c.(1138-1140)cCg>cGg	p.P380R	SIGLEC11_ENST00000426971.2_Missense_Mutation_p.P380R	NM_052884.2	NP_443116.2	Q96RL6	SIG11_HUMAN	sialic acid binding Ig-like lectin 11	380	Ig-like C2-type 3.				cell adhesion	integral to membrane	sugar binding	p.P368R(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1)	32		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517)		CTCCAGGACCGGGAGGGATGT	0.672000													11	21					0	0	1	0	0
OR4F6	390648	broad.mit.edu	37	15	102346241	102346241	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr15:102346241G>T	ENST00000328882.4	+	1	340	c.319G>T	c.(319-321)Gtt>Ttt	p.V107F		NM_001005326.1	NP_001005326.1	Q8NGB9	OR4F6_HUMAN	olfactory receptor, family 4, subfamily F, member 6	107					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V107F(1)		breast(1)|large_intestine(1)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)			TATCCATGCAGTTGGGGGAAC	0.473000													147	659					3.69633e-99	6.88862e-99	1	1	0
TNRC6C	57690	broad.mit.edu	37	17	76061008	76061008	+	Silent	SNP	G	G	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr17:76061008G>A	ENST00000335749.4	+	4	3161	c.2592G>A	c.(2590-2592)ctG>ctA	p.L864L	TNRC6C_ENST00000541771.1_Silent_p.L867L|TNRC6C_ENST00000588061.1_Silent_p.L867L|TNRC6C_ENST00000588847.1_Silent_p.L864L|TNRC6C_ENST00000301624.4_Silent_p.L867L|TNRC6C_ENST00000544502.1_Silent_p.L864L	NM_001142640.1	NP_001136112.1	Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C	867	Sufficient for interaction with argonaute family proteins.				gene silencing by RNA|regulation of translation		nucleotide binding|RNA binding	p.L867L(1)|p.L864L(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			CCTCAGCCCTGTGCAAACCAG	0.532000													6	3					0	0	1	0	0
ARID1A	8289	broad.mit.edu	37	1	27106171	27106171	+	Nonsense_Mutation	SNP	A	A	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr1:27106171A>T	ENST00000324856.7	+	20	6153	c.5782A>T	c.(5782-5784)Aag>Tag	p.K1928*	ARID1A_ENST00000457599.2_Nonsense_Mutation_p.K1711*|ARID1A_ENST00000374152.2_Nonsense_Mutation_p.K1545*|ARID1A_ENST00000540690.1_Nonsense_Mutation_p.K256*	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1928					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	p.K1928*(1)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GGATGGAGCTAAGAGTTCAGA	0.542000			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								174	157					0	0	1	0	0
POLR3E	55718	broad.mit.edu	37	16	22325425	22325425	+	Silent	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr16:22325425G>T	ENST00000299853.5	+	8	665	c.498G>T	c.(496-498)gcG>gcT	p.A166A	POLR3E_ENST00000359210.4_Silent_p.A166A|POLR3E_ENST00000418581.2_Silent_p.A130A|POLR3E_ENST00000564209.1_Silent_p.A166A	NM_001258033.1|NM_001258035.1|NM_018119.3	NP_001244962.1|NP_001244964.1|NP_060589.1	Q9NVU0	RPC5_HUMAN	polymerase (RNA) III (DNA directed) polypeptide E (80kD)	166					innate immune response|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA-directed RNA polymerase activity	p.A166A(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.012)		AGGATGAGGCGGAAGACGATG	0.637000													8	17					0.00010058	0.000106913	1	1	0
CLDN8	9073	broad.mit.edu	37	21	31588059	31588059	+	Missense_Mutation	SNP	A	A	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr21:31588059A>T	ENST00000399899.1	-	1	332	c.185T>A	c.(184-186)aTg>aAg	p.M62K	CLDN8_ENST00000286809.1_Missense_Mutation_p.M62K	NM_199328.2	NP_955360.1	P56748	CLD8_HUMAN	claudin 8	62					calcium-independent cell-cell adhesion	endoplasmic reticulum|integral to membrane|tight junction	identical protein binding|structural molecule activity	p.M62K(1)		NS(1)|endometrium(2)|large_intestine(6)|lung(6)	15						TTTGCACTGCATCCTGATGTT	0.498000													33	186					0	0	1	0	0
FAM13C	220965	broad.mit.edu	37	10	61011256	61011256	+	Silent	SNP	C	C	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr10:61011256C>T	ENST00000435852.2	-	13	1760	c.1713G>A	c.(1711-1713)caG>caA	p.Q571Q	FAM13C_ENST00000373867.3_Intron|FAM13C_ENST00000373868.2_Intron|FAM13C_ENST00000442566.3_Intron|FAM13C_ENST00000468840.2_Intron|FAM13C_ENST00000419214.2_Intron|FAM13C_ENST00000277705.6_Intron			Q8NE31	FA13C_HUMAN	family with sequence similarity 13, member C	0										NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						GTCACCGTTCCTGCAAAAAAT	0.348000													6	28					0	0	1	0	0
OSTCP1	202459	broad.mit.edu	37	6	159262735	159262735	+	RNA	SNP	G	G	A	rs73013670	by1000genomes	TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr6:159262735G>A	ENST00000522287.1	-	0	608					NR_028496.1																						CCATCAGATAGCCCTTCTCAA	0.418000													4	94					0	0	1	0	0
FAM98C	147965	broad.mit.edu	37	19	38896205	38896205	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr19:38896205G>T	ENST00000252530.5	+	6	699	c.680G>T	c.(679-681)tGc>tTc	p.C227F	FAM98C_ENST00000343358.7_Missense_Mutation_p.C201F|FAM98C_ENST00000588262.1_Intron	NM_174905.3	NP_777565.3	Q17RN3	FA98C_HUMAN	family with sequence similarity 98, member C	227								p.C227F(1)		endometrium(2)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(60;3.95e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			CAGTACCGCTGCCGCCGCTGC	0.597000													10	14					1.58986e-06	1.76515e-06	1	1	0
PIP5K1A	8394	broad.mit.edu	37	1	151171540	151171540	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr1:151171540C>T	ENST00000409426.1	+	1	513	c.68C>T	c.(67-69)tCc>tTc	p.S23F	PIP5K1A_ENST00000368888.4_Missense_Mutation_p.S23F|PIP5K1A_ENST00000368890.4_Missense_Mutation_p.S23F|PIP5K1A_ENST00000441902.2_Missense_Mutation_p.S23F			Q99755	PI51A_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, alpha	23					phospholipid biosynthetic process|signal transduction	endomembrane system|Golgi stack|lamellipodium|nuclear speck	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|kinase binding	p.S23F(1)|p.S23C(1)		breast(1)|central_nervous_system(1)|ovary(1)|skin(1)|stomach(1)	5	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.181)			GCGGTCCCTTCCTGTACCTTG	0.627000													24	17					0	0	1	0	0
CDH2	1000	broad.mit.edu	37	18	25562988	25562988	+	Nonsense_Mutation	SNP	G	G	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr18:25562988G>A	ENST00000269141.3	-	14	2692	c.2269C>T	c.(2269-2271)Caa>Taa	p.Q757*	CDH2_ENST00000399380.3_Nonsense_Mutation_p.Q726*	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)	757					adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding	p.Q757*(1)		NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						ATTAAAAGTTGTTTGGCCTGG	0.353000													42	143					0	0	1	0	0
GNPAT	8443	broad.mit.edu	37	1	231403468	231403468	+	Silent	SNP	C	C	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr1:231403468C>T	ENST00000366647.4	+	9	1267	c.1098C>T	c.(1096-1098)gtC>gtT	p.V366V	GNPAT_ENST00000366646.3_Silent_p.V305V	NM_014236.3	NP_055051.1	O15228	GNPAT_HUMAN	glyceronephosphate O-acyltransferase	366					ether lipid biosynthetic process|fatty acid metabolic process|organ morphogenesis	peroxisomal matrix|peroxisomal membrane	glycerone-phosphate O-acyltransferase activity	p.V366V(2)		breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	23	Breast(184;0.0871)	all_cancers(173;0.2)|Prostate(94;0.183)				ATGCCTTTGTCACTGAAGTTG	0.433000													15	172					0	0	1	0	0
MYBPC2	4606	broad.mit.edu	37	19	50957609	50957609	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr19:50957609G>A	ENST00000357701.5	+	18	2048	c.1997G>A	c.(1996-1998)gGg>gAg	p.G666E		NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type	666	Fibronectin type-III 1.				cell adhesion|muscle filament sliding	cytosol|myosin filament	actin binding|structural constituent of muscle	p.G666E(1)		breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		ATGTACGATGGGGGGAAGCCA	0.542000													40	58					0	0	1	0	0
SPATA6	54558	broad.mit.edu	37	1	48850997	48850997	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr1:48850997C>A	ENST00000371847.3	-	9	1057	c.893G>T	c.(892-894)cGa>cTa	p.R298L	SPATA6_ENST00000371843.3_Missense_Mutation_p.R298L|SPATA6_ENST00000396199.3_Missense_Mutation_p.R226L	NM_019073.2	NP_061946.1	Q9NWH7	SPAT6_HUMAN	spermatogenesis associated 6	298					cell differentiation|multicellular organismal development|spermatogenesis	extracellular region		p.R298L(1)		breast(1)|endometrium(2)|large_intestine(6)|lung(7)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	21						ATCCTTGGGTCGGCAGCAGCC	0.299000													9	40					0.006122	0.0063202	1	1	0
ARHGAP5	394	broad.mit.edu	37	14	32562466	32562466	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr14:32562466G>T	ENST00000345122.3	+	2	2906	c.2591G>T	c.(2590-2592)gGa>gTa	p.G864V	ARHGAP5_ENST00000432921.1_Missense_Mutation_p.G864V|ARHGAP5_ENST00000433497.1_Intron|ARHGAP5_ENST00000556611.1_Missense_Mutation_p.G864V|ARHGAP5_ENST00000539826.2_Missense_Mutation_p.G864V|ARHGAP5_ENST00000396582.2_Intron	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5	864					cell adhesion|Rho protein signal transduction	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding	p.G864V(1)		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)		GCTTCGATGGGAATGCTTCGA	0.383000													15	109					3.51602e-12	4.28491e-12	1	1	0
ZNF510	22869	broad.mit.edu	37	9	99521121	99521121	+	Missense_Mutation	SNP	A	A	G			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr9:99521121A>G	ENST00000375231.1	-	6	2641	c.1991T>C	c.(1990-1992)tTa>tCa	p.L664S	ZNF510_ENST00000223428.4_Missense_Mutation_p.L664S			Q9Y2H8	ZN510_HUMAN	zinc finger protein 510	664					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.L664S(1)		NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|stomach(1)|urinary_tract(1)	21		Acute lymphoblastic leukemia(62;0.0527)				CTTCTTACATAATTTCCCATA	0.363000													38	88					0	0	1	0	0
XYLT1	64131	broad.mit.edu	37	16	17228362	17228362	+	Silent	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr16:17228362C>A	ENST00000261381.6	-	9	2079	c.1995G>T	c.(1993-1995)acG>acT	p.T665T	CTD-2576D5.4_ENST00000567344.1_RNA	NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	665					glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity	p.T665T(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						TGTGCAGGGACGTCTCGGCCC	0.607000													13	52					5.26018e-13	6.5072e-13	1	1	0
EIF2D	1939	broad.mit.edu	37	1	206784620	206784620	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr1:206784620G>A	ENST00000271764.2	-	2	372	c.164C>T	c.(163-165)gCt>gTt	p.A55V	EIF2D_ENST00000367114.3_Missense_Mutation_p.A55V	NM_006893.2	NP_008824.2	P41214	EIF2D_HUMAN	eukaryotic translation initiation factor 2D	55					intracellular protein transport	cytoplasm	protein binding|receptor activity|translation initiation factor activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23						CCCTTTGTGAGCATACAACTT	0.473000													38	149					0	0	1	0	0
SALL1	6299	broad.mit.edu	37	16	51172949	51172949	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr16:51172949C>T	ENST00000440970.1	-	2	3324	c.2893G>A	c.(2893-2895)Gag>Aag	p.E965K	SALL1_ENST00000251020.4_Missense_Mutation_p.E1062K|SALL1_ENST00000566102.1_Intron|SALL1_ENST00000541611.1_Intron	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	1062					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.E1062K(1)		NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			GAACTGGGCTCAAAGAGCTGG	0.488000													3	44					0	0	1	0	0
KIF9	64147	broad.mit.edu	37	3	47286357	47286357	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr3:47286357C>T	ENST00000335044.2	-	15	1795	c.1438G>A	c.(1438-1440)Gga>Aga	p.G480R	KIF9_ENST00000452770.2_Missense_Mutation_p.G480R|KIF9_ENST00000265529.3_Missense_Mutation_p.G480R|KIF9-AS1_ENST00000429315.3_RNA|KIF9_ENST00000352910.4_Missense_Mutation_p.G387R|KIF9_ENST00000444589.2_Missense_Mutation_p.G480R|KIF9_ENST00000487440.1_5'UTR	NM_001134878.1|NM_182902.3	NP_001128350.1|NP_878905.2	Q9HAQ2	KIF9_HUMAN	kinesin family member 9	480					blood coagulation|microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	p.G480R(1)		central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(15)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)	34		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000284)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		ACTCCGAGTCCAAAGTTTTGT	0.527000													3	39					0	0	1	0	0
HCN1	348980	broad.mit.edu	37	5	45262807	45262807	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr5:45262807C>A	ENST00000303230.4	-	8	1946	c.1889G>T	c.(1888-1890)aGg>aTg	p.R630M		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	630						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	p.R630M(2)		NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						CACCATCTCCCTGTCATGTTT	0.448000													80	131					2.76863e-45	4.63322e-45	1	1	0
ANKRD30A	91074	broad.mit.edu	37	10	37430752	37430752	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr10:37430752G>T	ENST00000374660.1	+	7	858	c.759G>T	c.(757-759)ttG>ttT	p.L253F	ANKRD30A_ENST00000361713.1_Missense_Mutation_p.L253F|ANKRD30A_ENST00000602533.1_Missense_Mutation_p.L253F			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	309						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.L253F(2)		NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						CTGCACCCTTGGTGGAAAGAA	0.502000													22	27					6.12954e-19	8.12553e-19	1	1	0
CHORDC1	26973	broad.mit.edu	37	11	89947211	89947211	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr11:89947211G>T	ENST00000320585.6	-	4	713	c.304C>A	c.(304-306)Cca>Aca	p.P102T	CHORDC1_ENST00000457199.2_Missense_Mutation_p.P83T|CHORDC1_ENST00000530765.1_Missense_Mutation_p.P102T	NM_012124.2	NP_036256.2	Q9UHD1	CHRD1_HUMAN	cysteine and histidine-rich domain (CHORD) containing 1	102	Interaction with HSP90AA1 and HSP90AB1 (By similarity).				chaperone-mediated protein folding|regulation of response to stress|response to stress		Hsp90 protein binding|identical protein binding	p.P102T(1)		endometrium(2)|large_intestine(2)|liver(1)|lung(6)	11		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.00915)				GCTTCTACTGGCTTAGGGGCT	0.383000													24	67					1.17739e-12	1.44716e-12	1	1	0
NEDD4L	23327	broad.mit.edu	37	18	56024480	56024480	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr18:56024480G>T	ENST00000456986.1	+	19	2000	c.1400G>T	c.(1399-1401)gGt>gTt	p.G467V	NEDD4L_ENST00000431212.2_Missense_Mutation_p.G467V|NEDD4L_ENST00000382850.4_Missense_Mutation_p.G568V|NEDD4L_ENST00000256830.9_Missense_Mutation_p.G484V|NEDD4L_ENST00000586263.1_Missense_Mutation_p.G560V|NEDD4L_ENST00000435432.2_Missense_Mutation_p.G447V|NEDD4L_ENST00000589054.1_Intron|NEDD4L_ENST00000400345.3_Missense_Mutation_p.G588V|NEDD4L_ENST00000456173.2_Missense_Mutation_p.G447V|NEDD4L_ENST00000256832.7_Missense_Mutation_p.G447V|NEDD4L_ENST00000357895.5_Missense_Mutation_p.G580V|NEDD4L_ENST00000356462.6_Missense_Mutation_p.G524V	NM_001144964.1	NP_001138436.1	Q96PU5	NED4L_HUMAN	neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase	588					cellular sodium ion homeostasis|excretion|interspecies interaction between organisms|positive regulation of endocytosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of protein catabolic process|response to metal ion|sodium ion transport|water homeostasis	cytoplasm	protein binding|sodium channel regulator activity|ubiquitin-protein ligase activity	p.G568V(1)|p.G588V(1)		breast(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(11)|ovary(1)|prostate(4)	37						GCTATTACTGGTCCGGTCAGT	0.353000													68	174					1.91123e-38	3.1166e-38	1	1	0
GDF2	2658	broad.mit.edu	37	10	48413794	48413794	+	Silent	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr10:48413794G>T	ENST00000249598.1	-	2	1233	c.1074C>A	c.(1072-1074)ggC>ggA	p.G358G		NM_016204.1	NP_057288.1	Q9UK05	GDF2_HUMAN	growth differentiation factor 2	358					activin receptor signaling pathway|BMP signaling pathway|cartilage development|cellular iron ion homeostasis|growth|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of DNA replication|negative regulation of endothelial cell proliferation|ossification|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity	p.G358G(1)		breast(1)|endometrium(2)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	28						AGAAGCAGCCGCCCTTACACT	0.572000													17	11					5.26018e-13	6.5072e-13	1	1	0
ATP1A2	477	broad.mit.edu	37	1	160100252	160100252	+	Silent	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr1:160100252G>T	ENST00000361216.3	+	13	1781	c.1692G>T	c.(1690-1692)cgG>cgT	p.R564R	ATP1A2_ENST00000472488.1_3'UTR|ATP1A2_ENST00000392233.3_Silent_p.R564R	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	564					ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	p.R564R(1)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			AGTTTCCTCGGGGCTTCAAAT	0.552000													36	37					2.01872e-29	3.00972e-29	1	1	0
IPO8	10526	broad.mit.edu	37	12	30843467	30843467	+	Silent	SNP	T	T	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr12:30843467T>A	ENST00000256079.4	-	2	467	c.129A>T	c.(127-129)atA>atT	p.I43I		NM_006390.3	NP_006381.2	O15397	IPO8_HUMAN	importin 8	43	Importin N-terminal.				intracellular protein transport|signal transduction	cytoplasm|nucleus	protein transporter activity|Ran GTPase binding	p.I43I(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(16)|liver(1)|lung(22)|prostate(2)|skin(2)|urinary_tract(2)	52	all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					GGTCAGAGACTATAATCCGAA	0.328000													63	65					0	0	1	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43895977	43895977	+	Missense_Mutation	SNP	T	T	C			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr12:43895977T>C	ENST00000389420.3	-	4	844	c.845A>G	c.(844-846)tAt>tGt	p.Y282C	ADAMTS20_ENST00000553158.1_Missense_Mutation_p.Y282C	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	282	Peptidase M12B.					proteinaceous extracellular matrix	zinc ion binding	p.Y282C(2)		breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		AGTCAGTATATAGTTTTGCAA	0.279000													10	15					0	0	1	0	0
ZNF35	7584	broad.mit.edu	37	3	44700713	44700713	+	Silent	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr3:44700713C>A	ENST00000396056.2	+	4	1093	c.858C>A	c.(856-858)gcC>gcA	p.A286A	ZNF35_ENST00000542250.1_Silent_p.A126A|ZNF35_ENST00000296092.3_3'UTR|RP11-944L7.4_ENST00000457331.1_RNA	NM_003420.3	NP_003411.3	P13682	ZNF35_HUMAN	zinc finger protein 35	286					cellular response to retinoic acid|spermatogenesis	nucleus|perinuclear region of cytoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.A286E(1)		large_intestine(3)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	12		Ovarian(412;0.0228)		OV - Ovarian serous cystadenocarcinoma(275;2.49e-27)|KIRC - Kidney renal clear cell carcinoma(197;0.0475)|Kidney(197;0.0595)		GTGGGAAAGCCTTCACTCAGA	0.408000													41	26					4.64027e-19	6.17984e-19	1	1	0
PCDH1	5097	broad.mit.edu	37	5	141244523	141244523	+	Missense_Mutation	SNP	A	A	C			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr5:141244523A>C	ENST00000287008.3	-	3	1520	c.1373T>G	c.(1372-1374)cTg>cGg	p.L458R	PCDH1_ENST00000511044.1_5'UTR|PCDH1_ENST00000456271.1_Missense_Mutation_p.L446R|PCDH1_ENST00000503492.1_Intron|PCDH1_ENST00000536585.1_Missense_Mutation_p.L436R|PCDH1_ENST00000394536.3_Missense_Mutation_p.L458R	NM_032420.2	NP_115796.2	Q08174	PCDH1_HUMAN	protocadherin 1	458	Cadherin 4.				cell-cell signaling|homophilic cell adhesion|nervous system development	cell-cell junction|integral to plasma membrane	calcium ion binding	p.L458R(1)		breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1)	51		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)		GGTAGTCTGCAGGAAATACTT	0.557000													68	293					0	0	1	0	0
IGKV1-6	28943	broad.mit.edu	37	2	89265803	89265803	+	RNA	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr2:89265803C>A	ENST00000464162.1	-	0	357																											ATCTTGTAGACAGTAATAAGT	0.522000													55	124					2.37032e-18	3.13494e-18	1	1	0
LRBA	987	broad.mit.edu	37	4	151223840	151223840	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr4:151223840C>A	ENST00000535741.1	-	53	8427	c.7954G>T	c.(7954-7956)Gat>Tat	p.D2652Y	LRBA_ENST00000357115.3_Missense_Mutation_p.D2663Y|LRBA_ENST00000503716.1_5'UTR|LRBA_ENST00000510413.1_Missense_Mutation_p.D2652Y			P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	2663						endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding	p.D2663Y(1)		breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					AGAGTTGCATCACGTGACCCT	0.423000													69	124					3.58576e-35	5.76534e-35	1	1	0
EPHA3	2042	broad.mit.edu	37	3	89456501	89456501	+	Silent	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr3:89456501C>A	ENST00000336596.2	+	8	1902	c.1677C>A	c.(1675-1677)gtC>gtA	p.V559V	EPHA3_ENST00000494014.1_Silent_p.V559V	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	559						extracellular region|integral to plasma membrane	ATP binding	p.V559V(1)		NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		TCACTGTTGTCATCTATGTTT	0.423000										TSP Lung(6;0.00050)			65	68					1.15062e-32	1.77542e-32	1	1	0
KIAA0947	23379	broad.mit.edu	37	5	5473809	5473809	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr5:5473809G>T	ENST00000296564.7	+	16	6583	c.6361G>T	c.(6361-6363)Gat>Tat	p.D2121Y		NM_015325.2	NP_056140.1	Q9Y2F5	K0947_HUMAN	KIAA0947	2121								p.D2121Y(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						ATTTGCCATTGATCTGCTCTG	0.333000													11	27					2.32078e-09	2.69662e-09	1	1	0
OR4C15	81309	broad.mit.edu	37	11	55322592	55322592	+	Silent	SNP	C	C	G			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr11:55322592C>G	ENST00000314644.2	+	1	810	c.810C>G	c.(808-810)tcC>tcG	p.S270S		NM_001001920.1	NP_001001920.1	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C, member 15	216					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S270S(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						TGCTTGTCTCCTATGCTGTCA	0.468000										HNSCC(20;0.049)			271	398					0	0	1	0	0
UGT2B28	54490	broad.mit.edu	37	4	70152489	70152489	+	Missense_Mutation	SNP	A	A	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr4:70152489A>T	ENST00000335568.5	+	3	892	c.890A>T	c.(889-891)cAg>cTg	p.Q297L	UGT2B28_ENST00000511240.1_Missense_Mutation_p.Q297L	NM_053039.1	NP_444267.1	Q9BY64	UDB28_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B28	297					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	p.Q297L(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31					Flunitrazepam(DB01544)	GAATTTGTACAGAGCTCTGGT	0.403000													77	224					0	0	1	0	0
SOX5	6660	broad.mit.edu	37	12	23689448	23689448	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr12:23689448C>T	ENST00000546136.1	-	13	1890	c.1888G>A	c.(1888-1890)Ggt>Agt	p.G630S	SOX5_ENST00000451604.2_Missense_Mutation_p.G643S|SOX5_ENST00000396007.2_Missense_Mutation_p.G257S|SOX5_ENST00000381381.2_Missense_Mutation_p.G522S|SOX5_ENST00000545921.1_Missense_Mutation_p.G633S|SOX5_ENST00000541536.1_Missense_Mutation_p.G522S|SOX5_ENST00000309359.1_Missense_Mutation_p.G630S|SOX5_ENST00000537393.1_Missense_Mutation_p.G608S			P35711	SOX5_HUMAN	SRY (sex determining region Y)-box 5	643					transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	p.G643S(1)		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						TTGTATTCACCAATGCGCAGC	0.507000													39	80					0	0	1	0	0
BMP4	652	broad.mit.edu	37	14	54417449	54417449	+	Silent	SNP	G	G	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr14:54417449G>A	ENST00000245451.4	-	4	921	c.528C>T	c.(526-528)caC>caT	p.H176H	BMP4_ENST00000417573.1_Silent_p.H176H|BMP4_ENST00000559087.1_Silent_p.H176H|BMP4_ENST00000558984.1_Silent_p.H176H	NM_001202.3	NP_001193.2	P12644	BMP4_HUMAN	bone morphogenetic protein 4	176					activation of MAPKK activity|blood vessel endothelial cell proliferation involved in sprouting angiogenesis|BMP signaling pathway involved in heart induction|BMP signaling pathway involved in nephric duct formation|branching involved in ureteric bud morphogenesis|bronchus development|bud dilation involved in lung branching|cardiac septum development|cartilage development|endocardial cushion development|epithelial cell proliferation involved in lung morphogenesis|intermediate mesodermal cell differentiation|lung alveolus development|lymphoid progenitor cell differentiation|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesonephros development|negative regulation of branch elongation involved in ureteric bud branching by BMP signaling pathway|negative regulation of branching involved in ureteric bud morphogenesis|negative regulation of cell proliferation involved in heart morphogenesis|negative regulation of glomerular mesangial cell proliferation|negative regulation of glomerulus development|negative regulation of immature T cell proliferation in thymus|negative regulation of MAP kinase activity|negative regulation of metanephric comma-shaped body morphogenesis|negative regulation of metanephric S-shaped body morphogenesis|negative regulation of mitosis|negative regulation of myoblast differentiation|negative regulation of phosphorylation|negative regulation of striated muscle tissue development|negative regulation of thymocyte apoptosis|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cardiac muscle fiber development|positive regulation of cartilage development|positive regulation of collagen biosynthetic process|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of kidney development|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of smooth muscle cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|protein localization to nucleus|pulmonary artery endothelial tube morphogenesis|secondary heart field specification|SMAD protein signal transduction|specification of ureteric bud anterior/posterior symmetry by BMP signaling pathway|steroid hormone mediated signaling pathway	extracellular space|proteinaceous extracellular matrix	BMP receptor binding|chemoattractant activity|cytokine activity|growth factor activity	p.H176H(1)		breast(1)|endometrium(3)|large_intestine(2)|lung(9)|prostate(3)|urinary_tract(1)	19						TGTTTATACGGTGGAAGCCCC	0.562000													5	25					0	0	1	0	0
TENM4	26011	broad.mit.edu	37	11	78412653	78412653	+	Nonsense_Mutation	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr11:78412653C>A	ENST00000278550.7	-	28	5467	c.5005G>T	c.(5005-5007)Gag>Tag	p.E1669*		NM_001098816.2	NP_001092286.2			teneurin transmembrane protein 4									p.E1669*(2)									ATGGCCAACTCGTGTCCTTGT	0.507000													14	65					9.16793e-09	1.05248e-08	1	1	0
VRK2	7444	broad.mit.edu	37	2	58350345	58350345	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr2:58350345G>T	ENST00000435505.2	+	11	1398	c.653G>T	c.(652-654)aGc>aTc	p.S218I	VRK2_ENST00000417641.2_Missense_Mutation_p.S218I|VRK2_ENST00000412104.2_Missense_Mutation_p.S218I|VRK2_ENST00000440705.2_Missense_Mutation_p.S195I|VRK2_ENST00000340157.4_Missense_Mutation_p.S218I			Q86Y07	VRK2_HUMAN	vaccinia related kinase 2	218	Protein kinase.					integral to membrane	ATP binding|protein binding|protein serine/threonine kinase activity	p.S218I(1)		endometrium(4)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)	24						GAGTTTACCAGCTTGGATGCC	0.388000													66	124					3.83446e-41	6.37965e-41	1	1	0
PROC	5624	broad.mit.edu	37	2	128186390	128186390	+	Silent	SNP	C	C	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr2:128186390C>T	ENST00000453608.2	+	8	1427	c.1419C>T	c.(1417-1419)ggC>ggT	p.G473G	PROC_ENST00000409048.1_Silent_p.G452G|PROC_ENST00000234071.3_Silent_p.G418G|PROC_ENST00000422777.3_Silent_p.G418G			P04070	PROC_HUMAN	protein C (inactivator of coagulation factors Va and VIIIa)	418					blood coagulation|leukocyte migration|negative regulation of apoptosis|negative regulation of blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|Golgi lumen|plasma membrane	calcium ion binding|protein binding|serine-type endopeptidase activity	p.G418G(1)		endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)	15	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0673)	Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)|Sodium Tetradecyl Sulfate(DB00464)	TCCTGGTGGGCCTGGTGAGCT	0.647000													13	18					0	0	1	0	0
MXRA5	25878	broad.mit.edu	37	X	3235270	3235270	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chrX:3235270G>T	ENST00000217939.6	-	6	6606	c.6452C>A	c.(6451-6453)aCc>aAc	p.T2151N		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2151	Ig-like C2-type 6.					extracellular region		p.T2151N(2)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CCGCGGGGAGGTGCCCGTGAT	0.711000													18	4					8.24728e-16	1.04733e-15	1	1	0
NPY2R	4887	broad.mit.edu	37	4	156135190	156135190	+	Silent	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr4:156135190C>A	ENST00000329476.3	+	2	588	c.99C>A	c.(97-99)gtC>gtA	p.V33V	NPY2R_ENST00000506608.1_Silent_p.V33V	NM_000910.2	NP_000901.1	P49146	NPY2R_HUMAN	neuropeptide Y receptor Y2	33					cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis	integral to plasma membrane	calcium channel regulator activity	p.P34T(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1)	36	all_hematologic(180;0.24)	Renal(120;0.0854)				GTGAACTGGTCCCTGACCCTG	0.473000													32	71					2.42023e-17	3.1573e-17	1	1	0
CCDC63	160762	broad.mit.edu	37	12	111321993	111321993	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr12:111321993C>A	ENST00000308208.5	+	8	1255	c.1013C>A	c.(1012-1014)aCg>aAg	p.T338K	CCDC63_ENST00000552694.1_Missense_Mutation_p.T259K|CCDC63_ENST00000545036.1_Missense_Mutation_p.T298K	NM_152591.1	NP_689804.1	Q8NA47	CCD63_HUMAN	coiled-coil domain containing 63	338								p.T338K(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(1)	39						GCTCGGTTCACGTATGTCACG	0.562000													49	114					5.47352e-35	8.75154e-35	1	1	0
SRRM4	84530	broad.mit.edu	37	12	119554754	119554754	+	Nonsense_Mutation	SNP	T	T	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr12:119554754T>A	ENST00000267260.4	+	4	766	c.378T>A	c.(376-378)taT>taA	p.Y126*	RP11-364C11.2_ENST00000537730.1_RNA	NM_194286.3	NP_919262.2	A7MD48	SRRM4_HUMAN	serine/arginine repetitive matrix 4	126	Lys-rich.|Ser-rich.				cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding	p.Y126*(2)|p.Y223*(1)		breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						CCTCATCCTATAGCCCATCGC	0.473000													11	45					0	0	1	0	0
CASS4	57091	broad.mit.edu	37	20	55012236	55012236	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr20:55012236C>A	ENST00000371336.3	+	2	254	c.53C>A	c.(52-54)gCa>gAa	p.A18E	CASS4_ENST00000360314.3_Missense_Mutation_p.A18E|CASS4_ENST00000434344.1_Missense_Mutation_p.A18E	NM_001164114.1|NM_020356.3	NP_001157586.1|NP_065089.2	Q9NQ75	CASS4_HUMAN	Cas scaffolding protein family member 4	18	SH3.				cell adhesion	cytoplasm|cytoskeleton|focal adhesion	two-component sensor activity	p.A18E(1)		breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	54						CTGGCCAGGGCACTTTATGAC	0.557000													83	130					7.4264e-54	1.28396e-53	1	1	0
PIK3CG	5294	broad.mit.edu	37	7	106509787	106509787	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr7:106509787G>A	ENST00000359195.3	+	2	2091	c.1781G>A	c.(1780-1782)aGt>aAt	p.S594N	PIK3CG_ENST00000496166.1_Missense_Mutation_p.S594N|PIK3CG_ENST00000440650.2_Missense_Mutation_p.S594N	NM_002649.2	NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	594					G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding	p.S594N(1)		breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						AAGCTATTTAGTTCAGTGAAA	0.428000													32	80					0	0	1	0	0
HS3ST1	9957	broad.mit.edu	37	4	11401489	11401489	+	Silent	SNP	T	T	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr4:11401489T>A	ENST00000002596.5	-	2	1315	c.141A>T	c.(139-141)ccA>ccT	p.P47P		NM_005114.2	NP_005105.1	O14792	HS3S1_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 1	47						Golgi lumen|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity	p.P47P(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|skin(3)	15						CAGAGCCGTTTGGGGCCACGC	0.692000													11	16					0	0	1	0	0
TRPC6	7225	broad.mit.edu	37	11	101359765	101359765	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr11:101359765C>T	ENST00000344327.3	-	4	1620	c.1196G>A	c.(1195-1197)cGa>cAa	p.R399Q	TRPC6_ENST00000360497.4_Intron|TRPC6_ENST00000348423.4_Intron|TRPC6_ENST00000532133.1_Missense_Mutation_p.R399Q	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel, subfamily C, member 6	399					axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding	p.R399Q(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		TGTCTGCTGTCGTAAACCAGA	0.448000													9	34					0	0	1	0	0
CXXC1	30827	broad.mit.edu	37	18	47810186	47810186	+	Splice_Site	SNP	C	C	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr18:47810186C>T	ENST00000285106.6	-	11	2128		c.e11-1		CXXC1_ENST00000412036.2_Splice_Site|CXXC1_ENST00000589940.1_Splice_Site	NM_001101654.1|NM_014593.3	NP_001095124.1|NP_055408.2	Q9P0U4	CXXC1_HUMAN	CXXC finger protein 1						histone H3-K4 methylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck|Set1C/COMPASS complex	protein binding|unmethylated CpG binding|zinc ion binding	p.?(1)		autonomic_ganglia(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	24						CCTCGTTGCTCTGCATGGAAT	0.577000													27	429					0	0	1	0	0
BCAS3	54828	broad.mit.edu	37	17	59161869	59161869	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr17:59161869C>T	ENST00000589222.1	+	22	2437	c.2369C>T	c.(2368-2370)tCa>tTa	p.S790L	BCAS3_ENST00000588462.1_Missense_Mutation_p.S805L|BCAS3_ENST00000408905.3_Missense_Mutation_p.S790L|BCAS3_ENST00000390652.5_Missense_Mutation_p.S805L|BCAS3_ENST00000588874.1_Missense_Mutation_p.S561L|BCAS3_ENST00000585744.1_Missense_Mutation_p.S576L|BCAS3_ENST00000407086.3_Missense_Mutation_p.S790L			Q9H6U6	BCAS3_HUMAN	breast carcinoma amplified sequence 3	805						nucleus		p.S805L(1)		NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44			BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)			ATGCCAGGGTCATCCCGTCCA	0.473000													21	82					0	0	1	0	0
ARHGAP12	94134	broad.mit.edu	37	10	32197269	32197269	+	Missense_Mutation	SNP	T	T	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr10:32197269T>A	ENST00000375250.5	-	3	756	c.515A>T	c.(514-516)aAt>aTt	p.N172I	ARHGAP12_ENST00000375245.4_Missense_Mutation_p.N172I|ARHGAP12_ENST00000344936.2_Missense_Mutation_p.N172I|ARHGAP12_ENST00000396144.4_Missense_Mutation_p.N172I|ARHGAP12_ENST00000311380.4_Missense_Mutation_p.N172I	NM_001270696.1	NP_001257625.1	Q8IWW6	RHG12_HUMAN	Rho GTPase activating protein 12	172					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	p.N172I(1)		NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(11)|lung(10)|skin(1)|urinary_tract(2)	31		Prostate(175;0.0199)				GCGTGTCCTATTCTGGCTGGA	0.443000													133	247					0	0	1	0	0
RABGAP1	23637	broad.mit.edu	37	9	125748687	125748687	+	Missense_Mutation	SNP	A	A	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr9:125748687A>T	ENST00000373647.4	+	4	713	c.579A>T	c.(577-579)gaA>gaT	p.E193D		NM_012197.3	NP_036329.3	Q9Y3P9	RBGP1_HUMAN	RAB GTPase activating protein 1	193	PID.				cell cycle	centrosome|cytosol|microtubule associated complex	Rab GTPase activator activity|tubulin binding	p.E121D(1)|p.E193D(1)		breast(3)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|prostate(4)|stomach(3)|upper_aerodigestive_tract(1)	41						ATGTGTCTGAAGGAATTGTGA	0.403000													183	214					0	0	1	0	0
WDR93	56964	broad.mit.edu	37	15	90245192	90245192	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr15:90245192G>T	ENST00000268130.7	+	2	316	c.215G>T	c.(214-216)tGg>tTg	p.W72L	WDR93_ENST00000558000.1_Missense_Mutation_p.W72L|WDR93_ENST00000560294.1_Missense_Mutation_p.W72L	NM_020212.1	NP_064597.1	Q6P2C0	WDR93_HUMAN	WD repeat domain 93	72					electron transport chain	mitochondrial inner membrane	oxidoreductase activity, acting on NADH or NADPH	p.W72L(1)		NS(1)|breast(3)|endometrium(2)|kidney(4)|large_intestine(5)|liver(2)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	33	Lung NSC(78;0.0237)|all_lung(78;0.0478)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|BRCA - Breast invasive adenocarcinoma(143;0.128)			GACCAGTCTTGGGAAATTATT	0.502000													42	59					9.39024e-22	1.31143e-21	1	1	0
SNTG2	54221	broad.mit.edu	37	2	1168851	1168851	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr2:1168851C>A	ENST00000308624.5	+	8	702	c.573C>A	c.(571-573)aaC>aaA	p.N191K	SNTG2_ENST00000407292.1_Intron|SNTG2_ENST00000467759.1_3'UTR	NM_018968.3	NP_061841.2	Q9NY99	SNTG2_HUMAN	syntrophin, gamma 2	191					central nervous system development	cytoplasm|cytoskeleton|sarcolemma|syntrophin complex	actin binding|PDZ domain binding	p.N191K(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		TGCATCTGAACGGAAACTCCA	0.448000													161	338					4.95515e-46	8.34092e-46	1	1	0
PRPF19	27339	broad.mit.edu	37	11	60666746	60666746	+	Missense_Mutation	SNP	T	T	G			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr11:60666746T>G	ENST00000227524.4	-	11	1064	c.859A>C	c.(859-861)Act>Cct	p.T287P		NM_014502.4	NP_055317.1	Q9UMS4	PRP19_HUMAN	pre-mRNA processing factor 19	287					DNA repair|protein polyubiquitination|spliceosome assembly	catalytic step 2 spliceosome|nuclear speck|spindle|ubiquitin ligase complex	DNA binding|identical protein binding|ubiquitin-ubiquitin ligase activity	p.T287P(2)		haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1)	22						ATCCTGATAGTGGCATCGGGG	0.488000											OREG0020994	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	56					0	0	1	0	0
MIR509-3	100126337	broad.mit.edu	37	X	146341225	146341225	+	RNA	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chrX:146341225C>A	ENST00000390725.1	-	0	19					NR_030629.1																						ATGATTGCCACGTCTGCAGTA	0.443000													380	368					6.74202e-176	1.29429e-175	1	1	0
ANK2	287	broad.mit.edu	37	4	114158753	114158753	+	Splice_Site	SNP	A	A	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr4:114158753A>T	ENST00000357077.4	+	7	722		c.e7-1		ANK2_ENST00000264366.6_Splice_Site|ANK2_ENST00000506722.1_Splice_Site|ANK2_ENST00000394537.3_Splice_Site	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal						axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	p.?(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		ACACTGCTTCAGATGATGGTG	0.363000													41	62					0	0	1	0	0
DCDC2B	149069	broad.mit.edu	37	1	32678391	32678391	+	Silent	SNP	G	G	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr1:32678391G>A	ENST00000409358.1	+	6	711	c.711G>A	c.(709-711)caG>caA	p.Q237Q		NM_001099434.1	NP_001092904.1	A2VCK2	DCD2B_HUMAN	doublecortin domain containing 2B	237					intracellular signal transduction			p.Q237Q(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)	11		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				CCCACAGGCAGGGGGTAGGTG	0.557000													12	44					0	0	1	0	0
LDB3	11155	broad.mit.edu	37	10	88478508	88478508	+	Missense_Mutation	SNP	A	A	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr10:88478508A>T	ENST00000429277.2	+	12	2042	c.1897A>T	c.(1897-1899)Aca>Tca	p.T633S	LDB3_ENST00000352360.5_Missense_Mutation_p.T371S|LDB3_ENST00000458213.2_Missense_Mutation_p.T518S|LDB3_ENST00000361373.4_Missense_Mutation_p.T628S|LDB3_ENST00000263066.6_Missense_Mutation_p.T518S	NM_001171610.1	NP_001165081.1	O75112	LDB3_HUMAN	LIM domain binding 3	628	LIM zinc-binding 2.					cytoskeleton|perinuclear region of cytoplasm|pseudopodium	zinc ion binding	p.T628S(1)|p.T633S(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|soft_tissue(1)	25						CTTGAGACAGACATGGCACAC	0.577000													34	53					0	0	1	0	0
KLF4	9314	broad.mit.edu	37	9	110248160	110248160	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr9:110248160C>A	ENST00000374672.4	-	5	1785	c.1312G>T	c.(1312-1314)Gcc>Tcc	p.A438S		NM_004235.4	NP_004226.3	O43474	KLF4_HUMAN	Kruppel-like factor 4 (gut)	472					fat cell differentiation|mesodermal cell fate determination|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|stem cell maintenance|transcription from RNA polymerase II promoter	nucleus	RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor recruiting transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	p.A429S(1)		breast(1)|central_nervous_system(3)|endometrium(5)|large_intestine(1)|lung(3)|pancreas(1)|prostate(2)	16						TCTGAGCGGGCGAATTTCCAT	0.493000													7	40					3.86212e-05	4.15142e-05	1	1	0
KIAA0391	9692	broad.mit.edu	37	14	35596743	35596743	+	Translation_Start_Site	SNP	T	T	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr14:35596743T>A	ENST00000605870.1	+	0	296				KIAA0391_ENST00000604948.1_Missense_Mutation_p.Y270N|KIAA0391_ENST00000250377.7_Missense_Mutation_p.Y270N|KIAA0391_ENST00000534898.4_Missense_Mutation_p.Y365N|KIAA0391_ENST00000557565.1_Missense_Mutation_p.Y365N|KIAA0391_ENST00000603588.1_3'UTR|KIAA0391_ENST00000603544.1_Missense_Mutation_p.Y349N|KIAA0391_ENST00000321130.10_Missense_Mutation_p.Y349N	NM_001256680.1|NM_001256681.1	NP_001243609.1|NP_001243610.1	O15091	MRRP3_HUMAN	KIAA0391						tRNA processing	mitochondrion		p.Y365N(1)		central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	14	Breast(36;0.0545)|Hepatocellular(127;0.158)|Prostate(35;0.184)		Lung(238;2.93e-05)|LUAD - Lung adenocarcinoma(48;3.86e-05)|Epithelial(34;0.0114)|all cancers(34;0.0277)	GBM - Glioblastoma multiforme(112;0.0593)		TCCAGAAGAATATGAATGTCT	0.363000													41	187					0	0	1	0	0
TCF4	6925	broad.mit.edu	37	18	52896212	52896212	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr18:52896212C>A	ENST00000354452.3	-	18	2356	c.1745G>T	c.(1744-1746)cGt>cTt	p.R582L	TCF4_ENST00000565018.2_Missense_Mutation_p.R582L|TCF4_ENST00000564999.1_Missense_Mutation_p.R578L|TCF4_ENST00000544241.2_Missense_Mutation_p.R511L|TCF4_ENST00000570287.2_Missense_Mutation_p.R418L|TCF4_ENST00000540999.1_Missense_Mutation_p.R554L|TCF4_ENST00000567880.1_Missense_Mutation_p.R518L|TCF4_ENST00000457482.3_Missense_Mutation_p.R422L|TCF4_ENST00000566286.1_Missense_Mutation_p.R575L|TCF4_ENST00000543082.1_Missense_Mutation_p.R536L|TCF4_ENST00000564228.1_Missense_Mutation_p.R507L|TCF4_ENST00000537578.1_Missense_Mutation_p.R558L|TCF4_ENST00000561992.1_Missense_Mutation_p.R448L|TCF4_ENST00000564403.2_Missense_Mutation_p.R588L|TCF4_ENST00000561831.3_Missense_Mutation_p.R418L|TCF4_ENST00000568740.1_Missense_Mutation_p.R553L|TCF4_ENST00000570177.2_Missense_Mutation_p.R448L|TCF4_ENST00000568673.1_Missense_Mutation_p.R558L|TCF4_ENST00000356073.4_Missense_Mutation_p.R578L|TCF4_ENST00000537856.3_Missense_Mutation_p.R448L|TCF4_ENST00000398339.1_Missense_Mutation_p.R684L|TCF4_ENST00000566279.1_Missense_Mutation_p.R522L	NM_001083962.1	NP_001077431.1	P15884	ITF2_HUMAN	transcription factor 4	578	Helix-loop-helix motif.				positive regulation of neuron differentiation|protein-DNA complex assembly|transcription initiation from RNA polymerase II promoter	transcription factor complex	E-box binding|protein C-terminus binding|protein heterodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity|TFIIB-class binding transcription factor activity|TFIIB-class transcription factor binding	p.R578L(1)|p.R684L(1)		breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	41				Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718)		GTTGATGTCACGGACCCGCAG	0.592000													109	168					1.95696e-54	3.41426e-54	1	1	0
SIK3	23387	broad.mit.edu	37	11	116728895	116728895	+	Nonsense_Mutation	SNP	G	G	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr11:116728895G>A	ENST00000375300.1	-	20	3147	c.3142C>T	c.(3142-3144)Caa>Taa	p.Q1048*	SIK3_ENST00000542607.1_Nonsense_Mutation_p.Q930*|SIK3_ENST00000488337.1_5'UTR|SIK3_ENST00000434315.2_Nonsense_Mutation_p.Q829*|SIK3_ENST00000446921.2_Nonsense_Mutation_p.Q988*|SIK3_ENST00000375288.1_Nonsense_Mutation_p.Q325*|SIK3_ENST00000292055.4_Nonsense_Mutation_p.Q990*			Q9Y2K2	SIK3_HUMAN	SIK family kinase 3	990						cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	p.Q1096*(1)		breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						TCAGCATTTTGATAAGATAAA	0.552000													9	37					0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21224784	21224784	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr2:21224784C>T	ENST00000233242.1	-	29	13637	c.13510G>A	c.(13510-13512)Gac>Aac	p.D4504N		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	4504					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	p.D4504N(1)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	GAGAGTTGGTCTGAAAAATCT	0.358000													18	49					0	0	1	0	0
ERCC6L2	375748	broad.mit.edu	37	9	98678647	98678647	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr9:98678647G>T	ENST00000288985.7	+	6	1427	c.1122G>T	c.(1120-1122)aaG>aaT	p.K374N	ERCC6L2_ENST00000437817.1_Missense_Mutation_p.K185N|ERCC6L2_ENST00000466840.1_3'UTR	NM_001010895.2	NP_001010895.1	Q5T890	RAD26_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 6-like 2	374					DNA repair	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding	p.K374N(1)									TTGCCAAAAAGATGTCTGGCT	0.453000													40	49					2.68985e-26	3.9088e-26	1	1	0
RYR2	6262	broad.mit.edu	37	1	237664075	237664075	+	Silent	SNP	T	T	C			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr1:237664075T>C	ENST00000366574.2	+	21	2585	c.2268T>C	c.(2266-2268)agT>agC	p.S756S	RYR2_ENST00000542537.1_Silent_p.S740S|RYR2_ENST00000360064.6_Silent_p.S754S	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	756	B30.2/SPRY 1.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.S754S(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			ATGTCATCAGTTGCTGTTTAG	0.413000													191	558					0	0	1	0	0
KLHDC7B	113730	broad.mit.edu	37	22	50987690	50987690	+	Silent	SNP	C	C	T	rs147168342	byFrequency	TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr22:50987690C>T	ENST00000395676.2	+	1	1229	c.1095C>T	c.(1093-1095)tcC>tcT	p.S365S		NM_138433.3	NP_612442.2	Q96G42	KLD7B_HUMAN	kelch domain containing 7B	365								p.S266S(1)		central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	14		all_cancers(38;1.53e-10)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		OV - Ovarian serous cystadenocarcinoma(4;7.49e-69)|all cancers(3;9.79e-66)|Epithelial(4;1.3e-63)|GBM - Glioblastoma multiforme(4;0.000399)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		TCCGTGGCTCCGGTGCCAAGG	0.672000													2	1					0	0	1	0	0
KIF16B	55614	broad.mit.edu	37	20	16348432	16348432	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr20:16348432C>A	ENST00000408042.1	-	23	3695	c.3538G>T	c.(3538-3540)Gat>Tat	p.D1180Y	KIF16B_ENST00000354981.2_Intron|KIF16B_ENST00000355755.3_Intron|KIF16B_ENST00000378003.2_Intron	NM_001199866.1	NP_001186795.1	Q96L93	KI16B_HUMAN	kinesin family member 16B	0					cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity	p.D1180Y(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						GCAGCGGCATCAGGCTCTGGC	0.488000													29	45					5.71845e-15	7.21405e-15	1	1	0
PCDHB4	56131	broad.mit.edu	37	5	140502607	140502607	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr5:140502607C>A	ENST00000194152.1	+	1	1027	c.1027C>A	c.(1027-1029)Ccc>Acc	p.P343T		NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN		343	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding	p.P343T(1)		autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GAATGACAATCCCCCAGAACT	0.443000													71	212					6.44082e-31	9.72902e-31	1	1	0
NLRP4	147945	broad.mit.edu	37	19	56392837	56392837	+	Splice_Site	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr19:56392837C>A	ENST00000301295.6	+	10	3291	c.2867_splice	c.e10-1	p.L957_splice	NLRP4_ENST00000587891.1_Splice_Site_p.L882_splice|NLRP4_ENST00000346986.5_Splice_Site_p.L901_splice	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	957				L -> P (in Ref. 4; AAL88672).			ATP binding	p.L957M(1)		breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		TTTTACCAGGCTGAGAAAAAC	0.418000													13	18					1.67942e-08	1.92412e-08	1	1	0
ARFGEF1	10565	broad.mit.edu	37	8	68208800	68208800	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr8:68208800C>A	ENST00000262215.3	-	5	894	c.505G>T	c.(505-507)Ggg>Tgg	p.G169W		NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	169					exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding	p.G169W(1)		breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			AGTACAGTCCCTTCATGAATT	0.328000													38	78					5.04308e-16	6.43273e-16	1	1	0
ABCC10	89845	broad.mit.edu	37	6	43400557	43400557	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr6:43400557C>T	ENST00000244533.3	+	1	1069	c.710C>T	c.(709-711)gCc>gTc	p.A237V	ABCC10_ENST00000443426.2_Intron|ABCC10_ENST00000372530.4_Missense_Mutation_p.A280V	NM_033450.2	NP_258261.2	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	280						integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	p.A237V(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			TTGTATGGGGCCTTTGGACGG	0.622000													8	9					0	0	1	0	0
UHRF1BP1L	23074	broad.mit.edu	37	12	100444041	100444041	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr12:100444041C>A	ENST00000279907.7	-	17	3835	c.3623G>T	c.(3622-3624)gGg>gTg	p.G1208V	UHRF1BP1L_ENST00000545232.2_Missense_Mutation_p.G858V	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN	UHRF1 binding protein 1-like	1208								p.G1208V(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						TGTATCTTCCCCTCGGATGTC	0.388000													17	49					4.7796e-09	5.53123e-09	1	1	0
PCDHA4	56144	broad.mit.edu	37	5	140188720	140188720	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr5:140188720C>A	ENST00000530339.1	+	1	1948	c.1948C>A	c.(1948-1950)Ctg>Atg	p.L650M	PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000512229.2_Missense_Mutation_p.L650M|PCDHA4_ENST00000356878.4_Missense_Mutation_p.L650M|PCDHA3_ENST00000522353.2_Intron	NM_018907.2	NP_061730.1												p.L650M(2)		breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTACTGGTACTGGTGAAGGA	0.677000													43	36					5.73332e-34	8.9916e-34	1	1	0
CHL1	10752	broad.mit.edu	37	3	433422	433422	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr3:433422G>T	ENST00000256509.2	+	23	3498	c.2856G>T	c.(2854-2856)tgG>tgT	p.W952C	CHL1_ENST00000397491.2_Missense_Mutation_p.W936C	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	O00533	CHL1_HUMAN	cell adhesion molecule L1-like	936	Fibronectin type-III 4.				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix		p.W952C(1)		NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		CTTTATCTTGGGGACTACCTA	0.323000													40	21					6.07928e-31	9.20714e-31	1	1	0
PLCXD2	257068	broad.mit.edu	37	3	111427042	111427042	+	Nonsense_Mutation	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr3:111427042G>T	ENST00000393934.3	+	2	1003	c.433G>T	c.(433-435)Gaa>Taa	p.E145*	PLCXD2_ENST00000477665.1_Nonsense_Mutation_p.E145*	NM_153268.3	NP_695000.1	Q0VAA5	PLCX2_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 2	145	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity	p.E145*(1)		endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)	17						TGGGCTGATGGAAATTGACTC	0.493000													39	100					4.64027e-19	6.17984e-19	1	1	0
PROX1	5629	broad.mit.edu	37	1	214170382	214170382	+	Silent	SNP	G	G	C			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr1:214170382G>C	ENST00000366958.4	+	2	1112	c.504G>C	c.(502-504)cgG>cgC	p.R168R	PROX1_ENST00000435016.1_Silent_p.R168R|PROX1_ENST00000498508.2_Silent_p.R168R|PROX1_ENST00000261454.4_Silent_p.R168R	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN	prospero homeobox 1	168					aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis	cytoplasm|nucleus	DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding	p.R168R(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		AGCGCGCCCGGGTTGAGAATA	0.532000													14	58					0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77767417	77767417	+	Missense_Mutation	SNP	A	A	G			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr8:77767417A>G	ENST00000521891.2	+	10	8708	c.8260A>G	c.(8260-8262)Aca>Gca	p.T2754A	ZFHX4_ENST00000518282.1_Missense_Mutation_p.T2728A|ZFHX4_ENST00000455469.2_Missense_Mutation_p.T2709A|ZFHX4_ENST00000050961.6_Missense_Mutation_p.T2709A	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2709						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.T2738A(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TACAGTGTCAACACCTGTTAG	0.383000										HNSCC(33;0.089)			28	43					0	0	1	0	0
NR6A1	2649	broad.mit.edu	37	9	127300525	127300525	+	Nonsense_Mutation	SNP	G	G	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr9:127300525G>A	ENST00000487099.2	-	6	827	c.670C>T	c.(670-672)Caa>Taa	p.Q224*	NR6A1_ENST00000373584.3_Nonsense_Mutation_p.Q220*|NR6A1_ENST00000344523.4_Nonsense_Mutation_p.Q223*|NR6A1_ENST00000416460.2_Nonsense_Mutation_p.Q219*	NM_001278546.1	NP_001265475.1	Q15406	NR6A1_HUMAN	nuclear receptor subfamily 6, group A, member 1	224	Sufficient for interaction with UIMC1 (By similarity).				cell proliferation|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|spermatogenesis	transcription factor complex	protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	p.Q224*(1)		NS(1)|breast(1)|cervix(1)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	17						GGTATATATTGGTAATGTGGA	0.488000													74	69					0	0	1	0	0
OR10W1	81341	broad.mit.edu	37	11	58034994	58034994	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr11:58034994G>T	ENST00000395079.2	-	1	738	c.337C>A	c.(337-339)Cgc>Agc	p.R113S		NM_207374.3	NP_997257.2	Q8NGF6	O10W1_HUMAN	olfactory receptor, family 10, subfamily W, member 1	113					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R113S(1)		kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(1)	26		Breast(21;0.0589)				GCCACATAGCGGTCATAGGCC	0.532000													69	90					7.79919e-48	1.32841e-47	1	1	0
B3GNT5	84002	broad.mit.edu	37	3	182988136	182988136	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr3:182988136C>T	ENST00000326505.3	+	2	1080	c.550C>T	c.(550-552)Cca>Tca	p.P184S	MCF2L2_ENST00000473233.1_Intron|B3GNT5_ENST00000465010.1_Missense_Mutation_p.P184S|MCF2L2_ENST00000328913.3_Intron|MCF2L2_ENST00000447025.2_Intron|B3GNT5_ENST00000460419.1_Missense_Mutation_p.P184S	NM_032047.4	NP_114436.1	Q9BYG0	B3GN5_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 5	184					central nervous system development|glycolipid biosynthetic process|protein glycosylation	Golgi membrane|integral to membrane	beta-galactosyl-N-acetylglucosaminylgalactosylglucosyl-ceramide beta-1,3-acetylglucosaminyltransferase activity|galactosyltransferase activity	p.P184S(1)		endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	8	all_cancers(143;8.52e-13)|Ovarian(172;0.0355)		all cancers(12;4.52e-44)|Epithelial(37;8.82e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			TACCTATTGTCCACATGCCAA	0.333000													7	151					0	0	1	0	0
GRIN3A	116443	broad.mit.edu	37	9	104448937	104448937	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr9:104448937G>T	ENST00000361820.3	-	2	1845	c.1245C>A	c.(1243-1245)agC>agA	p.S415R		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	415					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding	p.S415R(1)		breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	AGTTCATCGTGCTGGGAATGA	0.478000													62	240					8.07507e-42	1.34741e-41	1	1	0
TMEM66	51669	broad.mit.edu	37	8	29927564	29927564	+	Silent	SNP	C	C	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr8:29927564C>T	ENST00000256255.6	-	3	551	c.294G>A	c.(292-294)aaG>aaA	p.K98K	TMEM66_ENST00000545648.1_5'UTR|TMEM66_ENST00000536273.1_5'UTR	NM_016127.4	NP_057211.4	Q96BY9	TMM66_HUMAN	transmembrane protein 66	98						integral to membrane		p.K98K(1)		endometrium(2)|large_intestine(1)|lung(11)	14				KIRC - Kidney renal clear cell carcinoma(542;0.0993)|Kidney(114;0.119)		CTAAGTCCGTCTTACATTCCC	0.398000													11	163					0	0	1	0	0
ZG16B	124220	broad.mit.edu	37	16	2881957	2881957	+	Missense_Mutation	SNP	T	T	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr16:2881957T>A	ENST00000382280.3	+	4	503	c.424T>A	c.(424-426)Tat>Aat	p.Y142N	ZG16B_ENST00000572863.1_Missense_Mutation_p.Y112N	NM_145252.2	NP_660295.2	Q96DA0	ZG16B_HUMAN	zymogen granule protein 16B	142						extracellular region	sugar binding	p.Y142N(1)		central_nervous_system(1)|lung(2)|ovary(1)|prostate(1)	5						CAAGGACCGCTATTTCTATTT	0.542000													8	13					0	0	1	0	0
PTH2R	5746	broad.mit.edu	37	2	209302298	209302298	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr2:209302298G>T	ENST00000272847.2	+	3	428	c.215G>T	c.(214-216)tGt>tTt	p.C72F	PTH2R_ENST00000413482.1_3'UTR	NM_005048.2	NP_005039.1	P49190	PTH2R_HUMAN	parathyroid hormone 2 receptor	72						integral to plasma membrane	parathyroid hormone receptor activity	p.C72F(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(21)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43				Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)		GGACTCATTTGTTGGCCCAGA	0.333000													24	42					3.90053e-15	4.9315e-15	1	1	0
ELP5	23587	broad.mit.edu	37	17	7160226	7160226	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr17:7160226G>A	ENST00000574993.1	+	5	725	c.508G>A	c.(508-510)Gag>Aag	p.E170K	ELP5_ENST00000396627.2_Missense_Mutation_p.E170K|RP1-4G17.5_ENST00000577138.1_Intron|ELP5_ENST00000354429.2_Missense_Mutation_p.E170K|ELP5_ENST00000396628.2_Missense_Mutation_p.E170K|ELP5_ENST00000356683.2_Missense_Mutation_p.E170K					elongator acetyltransferase complex subunit 5									p.E170K(2)									GCTACATGAAGAGCTTCATGG	0.582000													6	50					0	0	1	0	0
NGDN	25983	broad.mit.edu	37	14	23938924	23938924	+	Translation_Start_Site	SNP	G	G	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr14:23938924G>A	ENST00000397154.3	+	0	13				NGDN_ENST00000408901.3_De_novo_Start_InFrame			Q8NEJ9	NGDN_HUMAN	neuroguidin, EIF4E binding protein						regulation of translation	axon|cytoplasm|dendrite|filopodium|nucleus				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	12	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00654)		GCTTTGCGAAGATGGCGGCGC	0.537000											OREG0022601	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	164					0	0	1	0	0
CTNND2	1501	broad.mit.edu	37	5	11098777	11098777	+	Silent	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr5:11098777G>T	ENST00000304623.8	-	15	2736	c.2547C>A	c.(2545-2547)ccC>ccA	p.P849P	CTNND2_ENST00000359640.2_Intron|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000503622.1_Silent_p.P512P|CTNND2_ENST00000458100.2_Silent_p.P416P|CTNND2_ENST00000511377.1_Silent_p.P758P	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	849					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding	p.P849P(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						GTGTGAGGTAGGGTTTGACTA	0.562000													43	48					7.22619e-39	1.18509e-38	1	1	0
STAT3	6774	broad.mit.edu	37	17	40483494	40483494	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr17:40483494C>T	ENST00000264657.5	-	11	1417	c.1105G>A	c.(1105-1107)Gac>Aac	p.D369N	STAT3_ENST00000585517.1_Missense_Mutation_p.D369N|STAT3_ENST00000389272.3_Missense_Mutation_p.D271N|STAT3_ENST00000404395.3_Missense_Mutation_p.D369N|STAT3_ENST00000588969.1_Missense_Mutation_p.D369N	NM_003150.3|NM_139276.2	NP_003141.2|NP_644805.1	P40763	STAT3_HUMAN	signal transducer and activator of transcription 3 (acute-phase response factor)	369					cellular component movement|eating behavior|eye photoreceptor cell differentiation|glucose homeostasis|interleukin-6-mediated signaling pathway|interspecies interaction between organisms|JAK-STAT cascade involved in growth hormone signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein import into nucleus|response to estradiol stimulus|sexual reproduction|temperature homeostasis	cytosol|nucleus|plasma membrane	calcium ion binding|ligand-regulated transcription factor activity|protein dimerization activity|protein kinase binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding	p.D369N(1)		breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135)		BRCA - Breast invasive adenocarcinoma(366;0.139)		ACTTACTTGTCAATGCACACT	0.323000									Hyperimmunoglobulin E Recurrent Infection Syndrome				4	22					0	0	1	0	0
POTEF	728378	broad.mit.edu	37	2	130832708	130832708	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr2:130832708C>A	ENST00000357462.5	-	15	2430	c.2337G>T	c.(2335-2337)tgG>tgT	p.W779C	POTEF_ENST00000409914.2_Missense_Mutation_p.W779C			A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F	779	Actin-like.					cell cortex	ATP binding	p.W779C(1)		breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						CCATGTCATCCCAGTTGGTGA	0.577000													42	77					1.22102e-19	1.64522e-19	1	1	0
UTP3	57050	broad.mit.edu	37	4	71555768	71555768	+	Silent	SNP	G	G	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr4:71555768G>A	ENST00000254803.2	+	1	1573	c.1374G>A	c.(1372-1374)gaG>gaA	p.E458E		NM_020368.2	NP_065101.1	Q9NQZ2	SAS10_HUMAN	UTP3, small subunit (SSU) processome component, homolog (S. cerevisiae)	458					brain development|chromatin modification|gene silencing	nucleolus		p.E458E(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(4)	18			Lung(101;0.235)			GTAAAGAAGAGCAACGTTATA	0.388000													71	127					0	0	1	0	0
OR4D2	124538	broad.mit.edu	37	17	56247349	56247349	+	Missense_Mutation	SNP	G	G	C			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr17:56247349G>C	ENST00000545221.1	+	1	333	c.333G>C	c.(331-333)atG>atC	p.M111I		NM_001004707.3	NP_001004707.1	P58180	OR4D2_HUMAN	olfactory receptor, family 4, subfamily D, member 2	111					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.M111I(1)		breast(1)|kidney(1)|large_intestine(1)|lung(19)|ovary(1)|skin(2)|stomach(1)	26						GAGGTGCCATGGTCTTCTTCC	0.547000													85	51					0	0	1	0	0
DROSHA	29102	broad.mit.edu	37	5	31406967	31406967	+	Missense_Mutation	SNP	C	C	G			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr5:31406967C>G	ENST00000511367.2	-	33	4184	c.3940G>C	c.(3940-3942)Gga>Cga	p.G1314R	DROSHA_ENST00000344624.3_Missense_Mutation_p.G1314R|DROSHA_ENST00000513349.1_Missense_Mutation_p.G1277R|DROSHA_ENST00000442743.1_Missense_Mutation_p.G1277R	NM_013235.4	NP_037367.3	Q9NRR4	RNC_HUMAN	drosha, ribonuclease type III	1314	DRBM.|Necessary for interaction with DGCR8 and pri-miRNA processing activity.				gene silencing by RNA|ribosome biogenesis|RNA processing	nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity	p.G1314R(1)		breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1)	66						TACCTTGGTCCTTTCCCACAG	0.463000													31	82					0	0	1	0	0
AFP	174	broad.mit.edu	37	4	74313324	74313324	+	Missense_Mutation	SNP	T	T	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr4:74313324T>A	ENST00000395792.2	+	8	1089	c.989T>A	c.(988-990)cTa>cAa	p.L330Q	AFP_ENST00000226359.2_Missense_Mutation_p.L330Q	NM_001134.1	NP_001125.1	P02771	FETA_HUMAN	alpha-fetoprotein	330	Albumin 2.				transport		metal ion binding	p.L330Q(1)		breast(1)|endometrium(2)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|urinary_tract(1)	22	Breast(15;0.00102)		Epithelial(6;2.42e-05)|all cancers(17;0.000268)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TCTCCAAATCTAAACAGGTTT	0.358000									Alpha-Fetoprotein, Hereditary Persistence of				32	18					0	0	1	0	0
HOXD11	3237	broad.mit.edu	37	2	176973838	176973838	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr2:176973838C>A	ENST00000249504.5	+	2	1055	c.985C>A	c.(985-987)Ctg>Atg	p.L329M	HOXD11_ENST00000498438.1_3'UTR|HOXD10_ENST00000490088.2_3'UTR	NM_021192.2	NP_067015.2	P31277	HXD11_HUMAN	homeobox D11	329						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.L329M(1)						OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0521)|READ - Rectum adenocarcinoma(9;0.0678)		CAGAGACCGTCTGCAGTATTT	0.532000			T	NUP98	AML								54	71					1.55088e-19	2.07146e-19	1	1	0
RASGRF2	5924	broad.mit.edu	37	5	80369234	80369234	+	Missense_Mutation	SNP	A	A	G			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr5:80369234A>G	ENST00000265080.4	+	5	917	c.850A>G	c.(850-852)Atc>Gtc	p.I284V	RASGRF2_ENST00000502677.1_3'UTR	NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 2	284	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	protein binding|Rho guanyl-nucleotide exchange factor activity	p.I284V(1)		biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		GAAGCCCCCCATCAGCCACGA	0.483000													4	29					0	0	1	0	0
POU6F2	11281	broad.mit.edu	37	7	39379247	39379247	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr7:39379247C>T	ENST00000518318.2	+	5	560	c.518C>T	c.(517-519)tCa>tTa	p.S173L	POU6F2_ENST00000517348.1_3'UTR|POU6F2_ENST00000403058.1_Missense_Mutation_p.S173L|POU6F2_ENST00000559001.1_Missense_Mutation_p.S165L			P78424	PO6F2_HUMAN	POU class 6 homeobox 2	173	Gln-rich.				central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.S173L(1)		NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						GTAGCTACCTCATCCCTGAAC	0.567000													13	22					0	0	1	0	0
CTC-260E6.6	0	broad.mit.edu	37	19	20370088	20370088	+	RNA	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr19:20370088G>T	ENST00000593655.1	-	0	199																											GACCCATCCCGCAGAAAGCAC	0.413000													5	35					0.000602214	0.000628541	1	1	0
TPTE2P2	644623	broad.mit.edu	37	13	52864001	52864001	+	RNA	SNP	A	A	G			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr13:52864001A>G	ENST00000451298.1	-	0	168				RP11-64P12.8_ENST00000606031.1_RNA																							GAAAAAATAAAGCAATAGCTA	0.313000													3	47					0	0	1	0	0
ABL2	27	broad.mit.edu	37	1	179076967	179076967	+	Silent	SNP	G	G	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr1:179076967G>A	ENST00000502732.1	-	12	3638	c.3435C>T	c.(3433-3435)ctC>ctT	p.L1145L	ABL2_ENST00000367623.4_Silent_p.L1124L|ABL2_ENST00000504405.1_Silent_p.L1006L|ABL2_ENST00000507173.1_Silent_p.L1021L|ABL2_ENST00000511413.1_Silent_p.L1042L|ABL2_ENST00000408940.3_Silent_p.L1109L|ABL2_ENST00000344730.3_Silent_p.L1027L|ABL2_ENST00000512653.1_Silent_p.L1130L	NM_001168236.1|NM_001168237.1|NM_001168238.1|NM_007314.3	NP_001161708.1|NP_001161709.1|NP_001161710.1|NP_009298.1	P42684	ABL2_HUMAN	c-abl oncogene 2, non-receptor tyrosine kinase	1145	F-actin-binding (By similarity).				axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction	cytoskeleton|cytosol	ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding	p.L1145L(1)|p.L1109L(1)		breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	65					Adenosine triphosphate(DB00171)|Dasatinib(DB01254)	CCTGCAGGCTGAGTTCCAGTT	0.507000			T	ETV6	AML								4	46					0	0	1	0	0
PPP2R3B	28227	broad.mit.edu	37	X	308043	308043	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chrX:308043C>A	ENST00000390665.3	-	4	661	c.643G>T	c.(643-645)Gcc>Tcc	p.A215S		NM_013239.4	NP_037371.2	Q9Y5P8	P2R3B_HUMAN	protein phosphatase 2, regulatory subunit B'', beta	215					cell cycle arrest|protein dephosphorylation	nucleus|protein phosphatase type 2A complex	calcium ion binding|protein phosphatase type 2A regulator activity|protein serine/threonine phosphatase activity	p.A215S(1)|p.A215T(1)		endometrium(5)|lung(5)|skin(1)	11		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				ACGAACTTGGCCGCGTCGTCG	0.617000													5	29					0.00116845	0.0012129	1	1	0
CCDC173	129881	broad.mit.edu	37	2	170518803	170518803	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr2:170518803C>A	ENST00000447353.1	-	5	911	c.806G>T	c.(805-807)aGg>aTg	p.R269M		NM_001085447.1	NP_001078916.1			coiled-coil domain containing 173									p.R263M(1)									AAACCGTCTCCTGCTTTCATG	0.313000													251	372					1.68934e-126	3.17374e-126	1	1	0
AP3B2	8120	broad.mit.edu	37	15	83349659	83349659	+	Nonsense_Mutation	SNP	C	C	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr15:83349659C>T	ENST00000261722.3	-	7	908	c.701G>A	c.(700-702)tGg>tAg	p.W234*	RP11-752G15.3_ENST00000560650.1_RNA|AP3B2_ENST00000535359.1_Nonsense_Mutation_p.W234*|AP3B2_ENST00000535348.1_Nonsense_Mutation_p.W202*	NM_004644.3	NP_004635.2	Q13367	AP3B2_HUMAN	adaptor-related protein complex 3, beta 2 subunit	234					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport	clathrin coated vesicle membrane|COPI-coated vesicle|membrane coat	binding|protein transporter activity	p.W234*(1)		breast(4)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(2)	41			BRCA - Breast invasive adenocarcinoma(143;0.229)			CACCTGGCCCCACTCCTCCAC	0.612000													5	28					0	0	1	0	0
AKAP11	11215	broad.mit.edu	37	13	42891710	42891710	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr13:42891710G>A	ENST00000025301.2	+	12	5626	c.5451G>A	c.(5449-5451)atG>atA	p.M1817I		NM_016248.3	NP_057332.1	Q9UKA4	AKA11_HUMAN	A kinase (PRKA) anchor protein 11	1817					intracellular protein kinase cascade	microtubule organizing center	protein kinase A binding|protein phosphatase 1 binding	p.M1817I(1)		breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2)	56		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)		ATATTGACATGGAGCCATGCA	0.373000													8	155					0	0	1	0	0
NLRP3	114548	broad.mit.edu	37	1	247597423	247597423	+	Silent	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr1:247597423C>A	ENST00000366497.2	+	6	3126	c.2346C>A	c.(2344-2346)ctC>ctA	p.L782L	NLRP3_ENST00000366496.2_Silent_p.L782L|NLRP3_ENST00000336119.3_Silent_p.L782L|NLRP3_ENST00000391828.3_Silent_p.L782L|NLRP3_ENST00000391827.2_Silent_p.L725L|NLRP3_ENST00000348069.2_Silent_p.L725L	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	839					detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding	p.L782L(1)		NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			GCTGTGGCCTCTCGCATGAGT	0.562000													73	200					6.79372e-55	1.19411e-54	1	1	0
PIWIL1	9271	broad.mit.edu	37	12	130839524	130839524	+	Silent	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr12:130839524G>T	ENST00000245255.3	+	11	1535	c.1263G>T	c.(1261-1263)gtG>gtT	p.V421V		NM_001190971.1|NM_004764.4	NP_001177900.1|NP_004755.2	Q96J94	PIWL1_HUMAN	piwi-like RNA-mediated gene silencing 1	421					gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development	chromatoid body|P granule	mRNA binding|piRNA binding|protein binding	p.V421V(2)		breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		AGCGTGAAGTGGGACGACTCA	0.378000													156	275					9.2415e-74	1.68107e-73	1	1	0
GPR125	166647	broad.mit.edu	37	4	22422541	22422541	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr4:22422541C>A	ENST00000334304.5	-	12	2046	c.1777G>T	c.(1777-1779)Gtt>Ttt	p.V593F	GPR125_ENST00000502482.1_Missense_Mutation_p.V593F|GPR125_ENST00000508133.1_Missense_Mutation_p.V367F|GPR125_ENST00000282943.5_5'UTR	NM_145290.2	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	593					neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity	p.V593F(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				GTATTTGAAACATTGCACTTA	0.413000													93	420					8.58103e-55	1.50365e-54	1	1	0
CNTLN	54875	broad.mit.edu	37	9	17298192	17298192	+	Missense_Mutation	SNP	G	G	C			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr9:17298192G>C	ENST00000380647.3	+	7	1072	c.988G>C	c.(988-990)Gaa>Caa	p.E330Q	CNTLN_ENST00000425824.1_Splice_Site_p.E330_splice|CNTLN_ENST00000380641.4_Missense_Mutation_p.E330Q|CNTLN_ENST00000262360.5_Splice_Site_p.E330_splice			Q9NXG0	CNTLN_HUMAN	centlein, centrosomal protein	330						centriole|membrane	two-component sensor activity	p.E330Q(1)		breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53				GBM - Glioblastoma multiforme(50;6.14e-10)		GCACAGGAAGGAACTGCAGGA	0.408000													37	41					0	0	1	0	0
DLGAP1	9229	broad.mit.edu	37	18	3742422	3742422	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr18:3742422G>T	ENST00000315677.3	-	6	1858	c.1263C>A	c.(1261-1263)gaC>gaA	p.D421E	DLGAP1_ENST00000400155.1_Missense_Mutation_p.D127E|DLGAP1_ENST00000515196.2_Missense_Mutation_p.D421E|DLGAP1_ENST00000534970.1_Missense_Mutation_p.D133E|DLGAP1_ENST00000478161.1_5'UTR|DLGAP1_ENST00000581527.1_Missense_Mutation_p.D421E|DLGAP1_ENST00000539435.1_Missense_Mutation_p.D119E|DLGAP1_ENST00000400147.2_Missense_Mutation_p.D119E|DLGAP1_ENST00000581699.1_Missense_Mutation_p.D127E|DLGAP1_ENST00000584874.1_Missense_Mutation_p.D421E|DLGAP1_ENST00000400145.2_Missense_Mutation_p.D119E|DLGAP1_ENST00000400150.3_Missense_Mutation_p.D127E|DLGAP1_ENST00000400149.3_Missense_Mutation_p.D129E	NM_004746.3	NP_004737.2	O14490	DLGP1_HUMAN	discs, large (Drosophila) homolog-associated protein 1	421					synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane		p.D421E(1)|p.D119E(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56		Colorectal(8;0.0257)				GGTCCAGGCTGTCCAGGCTCC	0.557000													4	8					5.18039e-06	5.65403e-06	1	1	0
HECTD4	283450	broad.mit.edu	37	12	112744003	112744003	+	Silent	SNP	G	G	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr12:112744003G>A	ENST00000550722.1	-	7	1163	c.768C>T	c.(766-768)ctC>ctT	p.L256L	HECTD4_ENST00000430131.2_Silent_p.L6L|HECTD4_ENST00000377560.5_Silent_p.L256L	NM_001109662.3	NP_001103132.3			HECT domain containing E3 ubiquitin protein ligase 4									p.L256L(1)|p.L6L(1)									TGCCAATGGGGAGGTGATTGG	0.498000													28	30					0	0	1	0	0
FAM179B	23116	broad.mit.edu	37	14	45513851	45513851	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr14:45513851G>T	ENST00000361462.2	+	13	4115	c.3932G>T	c.(3931-3933)cGt>cTt	p.R1311L	FAM179B_ENST00000361577.3_Missense_Mutation_p.R1311L|FAM179B_ENST00000382233.2_3'UTR			Q9Y4F4	F179B_HUMAN	family with sequence similarity 179, member B	1311							binding	p.R1311L(1)		endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						AAAAATTTACGTTCTGGAGTT	0.308000													15	26					3.41278e-10	3.99087e-10	1	1	0
TSPAN7	7102	broad.mit.edu	37	X	38525426	38525426	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chrX:38525426G>T	ENST00000378482.2	+	2	310	c.133G>T	c.(133-135)Ggc>Tgc	p.G45C	TM4SF2_ENST00000465127.1_Missense_Mutation_p.G75C|TSPAN7_ENST00000488893.1_3'UTR|TSPAN7_ENST00000286824.6_Missense_Mutation_p.G62C|TSPAN7_ENST00000545599.1_Missense_Mutation_p.G19C|TSPAN7_ENST00000422612.2_Missense_Mutation_p.G71C	NM_004615.3	NP_004606.2	P41732	TSN7_HUMAN	tetraspanin 7	45					interspecies interaction between organisms	integral to plasma membrane		p.G45C(1)|p.G40C(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	11						ACTTACTCTGGGCACCTATAT	0.502000													47	37					1.67211e-32	2.55498e-32	1	1	0
NLGN3	54413	broad.mit.edu	37	X	70375185	70375185	+	Silent	SNP	C	C	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chrX:70375185C>T	ENST00000374051.3	+	4	961	c.639C>T	c.(637-639)atC>atT	p.I213I	NLGN3_ENST00000358741.3_Silent_p.I233I|NLGN3_ENST00000536169.1_Silent_p.I193I|NLGN3_ENST00000476589.1_3'UTR	NM_018977.3	NP_061850.2	Q9NZ94	NLGN3_HUMAN	neuroligin 3	233					neuron cell-cell adhesion|positive regulation of synaptogenesis|receptor-mediated endocytosis|social behavior|synapse assembly	cell surface|endocytic vesicle|integral to plasma membrane|synapse	neurexin binding|receptor activity	p.I233I(1)|p.I213I(1)		biliary_tract(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	37	Renal(35;0.156)					TCATCGTCATCACCCTCAACT	0.532000													44	196					0	0	1	0	0
LYST	1130	broad.mit.edu	37	1	235909776	235909776	+	Missense_Mutation	SNP	C	C	T	rs147536126	byFrequency	TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr1:235909776C>T	ENST00000389794.3	-	29	8006	c.7832G>A	c.(7831-7833)cGt>cAt	p.R2611H	LYST_ENST00000389793.2_Missense_Mutation_p.R2611H			Q99698	LYST_HUMAN	lysosomal trafficking regulator	2611					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding	p.R2611H(1)		NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			TGCCACTGAACGCATTTTCAT	0.408000													35	42					0	0	1	0	0
ZNF208	7757	broad.mit.edu	37	19	22157153	22157153	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr19:22157153G>T	ENST00000397126.4	-	4	831	c.683C>A	c.(682-684)cCc>cAc	p.P228H	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	NM_007153.3	NP_009084.2			zinc finger protein 208									p.P228H(3)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				ACATCTGTAGGGTTTCTCTCC	0.363000													62	67					9.12251e-31	1.36838e-30	1	1	0
GUCY1A3	2982	broad.mit.edu	37	4	156631723	156631723	+	Missense_Mutation	SNP	C	C	G			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr4:156631723C>G	ENST00000296518.7	+	6	615	c.406C>G	c.(406-408)Ctt>Gtt	p.L136V	GUCY1A3_ENST00000393832.3_5'UTR|GUCY1A3_ENST00000511108.1_Missense_Mutation_p.L136V|GUCY1A3_ENST00000511507.1_Missense_Mutation_p.L136V|GUCY1A3_ENST00000515602.1_3'UTR|GUCY1A3_ENST00000455639.2_Missense_Mutation_p.L136V|GUCY1A3_ENST00000506455.1_Missense_Mutation_p.L136V|GUCY1A3_ENST00000513574.1_Missense_Mutation_p.L136V			Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3	136				VIKESLGEEVFKICYEEDENILGVVGGTLKDFLNSFSTLLK QSSHCQEAGKRGR -> LSKNLLVKRFLKYVTRKMKTSLGW LEAPLKIFKQLQYPSETEQPLPRSRKKGQ (in Ref. 1).	blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity	p.L136V(1)		central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		CAAAGAATCTCTTGGTGAAGA	0.388000													4	83					0	0	1	0	0
LRRTM3	347731	broad.mit.edu	37	10	68857382	68857382	+	Missense_Mutation	SNP	A	A	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr10:68857382A>T	ENST00000361320.4	+	3	2152	c.1574A>T	c.(1573-1575)tAc>tTc	p.Y525F	LRRTM3_ENST00000485868.1_3'UTR|CTNNA3_ENST00000373744.4_Intron|CTNNA3_ENST00000494580.1_Intron|CTNNA3_ENST00000433211.1_Intron	NM_178011.3	NP_821079.3	Q86VH5	LRRT3_HUMAN	leucine rich repeat transmembrane neuronal 3	525						integral to membrane		p.Y525F(2)		breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	41						TTTCTGGCATACGACCAGCCC	0.398000													42	226					0	0	1	0	0
PRSS42	339906	broad.mit.edu	37	3	46873408	46873408	+	Silent	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr3:46873408C>A	ENST00000429665.1	-	4	749	c.750G>T	c.(748-750)ggG>ggT	p.G250G	PRSS42_ENST00000447340.1_Intron	NM_182702.1	NP_874361.1	Q7Z5A4	PRS42_HUMAN	protease, serine, 42	250	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity	p.G250G(1)		breast(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)	8						CACAGACCATCCCTTTTATTA	0.383000													43	26					1.47857e-17	1.9343e-17	1	1	0
NOP14	8602	broad.mit.edu	37	4	2954074	2954074	+	Silent	SNP	C	C	T	rs149472162	byFrequency	TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr4:2954074C>T	ENST00000416614.2	-	6	863	c.798G>A	c.(796-798)gcG>gcA	p.A266A	NOP14-AS1_ENST00000503709.1_RNA|NOP14_ENST00000398071.4_Silent_p.A266A|NOP14_ENST00000502735.1_Silent_p.A266A|NOP14_ENST00000314262.6_Silent_p.A266A			P78316	NOP14_HUMAN	NOP14 nucleolar protein	266					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	mitochondrion|Noc4p-Nop14p complex|small-subunit processome	snoRNA binding	p.A266A(1)		NS(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(12)|pancreas(1)|skin(1)|urinary_tract(1)	30						TAGAGGGCTGCGCCTTCATTT	0.468000													3	35					0	0	1	0	0
ITIH5	80760	broad.mit.edu	37	10	7659106	7659106	+	Silent	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr10:7659106G>T	ENST00000256861.6	-	6	870	c.792C>A	c.(790-792)gtC>gtA	p.V264V	ITIH5_ENST00000298441.6_Silent_p.V50V|ITIH5_ENST00000397145.2_Silent_p.V264V|ITIH5_ENST00000397146.2_Silent_p.V264V|ITIH5_ENST00000434980.1_5'UTR|ITIH5_ENST00000446830.2_Silent_p.V46V	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	264					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	p.V264V(2)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						GTTCTCTATTGACGTCATATC	0.403000													131	331					8.9487e-115	1.67023e-114	1	1	0
CSMD3	114788	broad.mit.edu	37	8	113392679	113392679	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr8:113392679G>T	ENST00000297405.5	-	38	6282	c.6038C>A	c.(6037-6039)aCa>aAa	p.T2013K	CSMD3_ENST00000352409.3_Missense_Mutation_p.T1943K|CSMD3_ENST00000343508.3_Missense_Mutation_p.T1973K|CSMD3_ENST00000455883.2_Missense_Mutation_p.T1909K	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2013	CUB 11.					integral to membrane|plasma membrane		p.T1973K(1)|p.T2013K(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ATGGGGTATTGTTGTTCCTGA	0.318000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			46	101					7.91745e-34	1.2328e-33	1	1	0
IGLV6-57	28778	broad.mit.edu	37	22	22550673	22550673	+	RNA	SNP	A	A	C			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr22:22550673A>C	ENST00000390285.2	+	0	436																											GATAGCAGCAATCACACAGTG	0.557000													37	72					0	0	1	0	0
EDIL3	10085	broad.mit.edu	37	5	83402547	83402547	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr5:83402547G>T	ENST00000296591.5	-	6	989	c.571C>A	c.(571-573)Ccc>Acc	p.P191T	EDIL3_ENST00000380138.3_Missense_Mutation_p.P181T	NM_005711.3	NP_005702.3	O43854	EDIL3_HUMAN	EGF-like repeats and discoidin I-like domains 3	191	F5/8 type C 1.				cell adhesion|multicellular organismal development	extracellular region	calcium ion binding|integrin binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(5)|skin(3)	31		Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425)		OV - Ovarian serous cystadenocarcinoma(54;4.3e-40)|Epithelial(54;4.79e-32)|all cancers(79;1.54e-26)		GCATAGTAGGGATACCATTTT	0.458000													48	139					1.00776e-21	1.39817e-21	1	1	0
NLRP12	91662	broad.mit.edu	37	19	54314478	54314478	+	Silent	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr19:54314478C>A	ENST00000324134.6	-	3	603	c.435G>T	c.(433-435)gcG>gcT	p.A145A	NLRP12_ENST00000391772.1_Silent_p.A145A|NLRP12_ENST00000535162.1_Silent_p.A145A|NLRP12_ENST00000345770.5_Silent_p.A145A|NLRP12_ENST00000391775.3_Silent_p.A145A|NLRP12_ENST00000354278.3_Silent_p.A145A|NLRP12_ENST00000351894.4_Silent_p.A145A|NLRP12_ENST00000391773.1_Silent_p.A145A	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	145					negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding	p.A145A(1)		NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		CCCCTAGGCGCGCATTGCGGT	0.567000													30	67					2.6416e-12	3.2205e-12	1	1	0
PHACTR4	65979	broad.mit.edu	37	1	28807101	28807101	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr1:28807101G>A	ENST00000373839.3	+	9	2006	c.1745G>A	c.(1744-1746)gGa>gAa	p.G582E	PHACTR4_ENST00000493669.1_3'UTR|PHACTR4_ENST00000373836.3_Missense_Mutation_p.G592E	NM_001048183.1	NP_001041648.1	Q8IZ21	PHAR4_HUMAN	phosphatase and actin regulator 4	582							actin binding|protein phosphatase inhibitor activity	p.G592E(1)		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)		CACCAGATTGGAAACACACTG	0.413000													69	258					0	0	1	0	0
PVR	5817	broad.mit.edu	37	19	45162189	45162189	+	Missense_Mutation	SNP	C	C	A	rs35385129	by1000genomes	TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr19:45162189C>A	ENST00000406449.4	+	6	1171	c.1171C>A	c.(1171-1173)Cgt>Agt	p.R391S	PVR_ENST00000344956.4_Intron|PVR_ENST00000425690.3_Intron|CTB-171A8.1_ENST00000590796.1_RNA|PVR_ENST00000403059.4_Intron	NM_001135770.1	NP_001129242.1	P15151	PVR_HUMAN	poliovirus receptor	0					adherens junction organization|cell adhesion|cell junction assembly|interspecies interaction between organisms|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|susceptibility to natural killer cell mediated cytotoxicity|susceptibility to T cell mediated cytotoxicity	cell junction|cell surface|cytoplasm|extracellular space|integral to membrane|nucleus	cell adhesion molecule binding|receptor activity			large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	6	Lung NSC(12;0.00608)|all_lung(12;0.0148)	Medulloblastoma(540;0.0425)|Ovarian(192;0.0728)|Prostate(69;0.081)|all_neural(266;0.112)		Epithelial(262;0.000601)		CCagagctgccgtaattgagc	0.532000													6	40					8.12818e-05	8.64091e-05	1	1	0
IFI16	3428	broad.mit.edu	37	1	159021844	159021844	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr1:159021844C>A	ENST00000295809.7	+	10	2296	c.2041C>A	c.(2041-2043)Caa>Aaa	p.Q681K	IFI16_ENST00000430894.2_Missense_Mutation_p.Q629K|IFI16_ENST00000340979.6_Missense_Mutation_p.Q569K|IFI16_ENST00000368132.3_Missense_Mutation_p.Q625K|IFI16_ENST00000448393.2_Missense_Mutation_p.Q569K|IFI16_ENST00000359709.3_Missense_Mutation_p.Q625K|IFI16_ENST00000368131.4_Missense_Mutation_p.Q625K			Q16666	IF16_HUMAN	interferon, gamma-inducible protein 16	681	HIN-200 2.				cell proliferation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|monocyte differentiation|negative regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	cytoplasm|nuclear speck|nucleolus	double-stranded DNA binding|protein binding	p.Q625K(1)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0429)					GCTTTGCTCACAAACTAAAGG	0.398000													4	28					1.23904e-05	1.33957e-05	1	1	0
PCDHB16	57717	broad.mit.edu	37	5	140563163	140563163	+	Silent	SNP	T	T	C			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr5:140563163T>C	ENST00000361016.2	+	1	2184	c.1029T>C	c.(1027-1029)aaT>aaC	p.N343N		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN		343	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	p.N343N(1)		breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGAATGACAATCCCCCACAGG	0.517000													24	72					0	0	1	0	0
TAS2R9	50835	broad.mit.edu	37	12	10962482	10962482	+	Missense_Mutation	SNP	C	C	G			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr12:10962482C>G	ENST00000240691.2	-	1	285	c.193G>C	c.(193-195)Gat>Cat	p.D65H		NM_023917.2	NP_076406.1	Q9NYW1	TA2R9_HUMAN	taste receptor, type 2, member 9	65					sensory perception of taste	integral to membrane	taste receptor activity	p.D65H(1)		endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						AAGAAGCCATCTAATGATATT	0.413000													145	210					0	0	1	0	0
OR2AG1	144125	broad.mit.edu	37	11	6807144	6807144	+	Silent	SNP	G	G	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr11:6807144G>A	ENST00000307401.4	+	1	897	c.876G>A	c.(874-876)ctG>ctA	p.L292L		NM_001004489.2	NP_001004489.1	Q9H205	O2AG1_HUMAN	olfactory receptor, family 2, subfamily AG, member 1	292					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L292L(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(13)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)		Epithelial(150;2.19e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		TCTACAGCCTGAGGAATAAGG	0.512000													5	109					0	0	1	0	0
TRBV5-6	28609	broad.mit.edu	37	7	142131907	142131907	+	RNA	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr7:142131907G>T	ENST00000390375.2	-	0	11																											CACTGCATCTGATTCAGGGCT	0.592000													13	20					2.23348e-06	2.46113e-06	1	1	0
SEC16B	89866	broad.mit.edu	37	1	177901902	177901902	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr1:177901902C>A	ENST00000308284.6	-	23	2952	c.2863G>T	c.(2863-2865)Ggc>Tgc	p.G955C	RP4-798P15.3_ENST00000354921.2_5'UTR|SEC16B_ENST00000495165.1_5'UTR|RP4-798P15.3_ENST00000528461.1_3'UTR	NM_033127.2	NP_149118.2	Q96JE7	SC16B_HUMAN	SEC16 homolog B (S. cerevisiae)	955					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane		p.G956C(1)		central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						AGTGAGAGGCCCAGGCCAGCC	0.587000													19	13					2.52088e-20	3.4229e-20	1	1	0
NODAL	4838	broad.mit.edu	37	10	72195389	72195389	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr10:72195389G>T	ENST00000287139.3	-	2	543	c.544C>A	c.(544-546)Ccg>Acg	p.P182T	AC022532.1_ENST00000420338.2_Silent_p.R112R	NM_018055.4	NP_060525.3	Q96S42	NODAL_HUMAN	nodal growth differentiation factor	182					growth	extracellular space	cytokine activity|growth factor activity	p.P182T(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(2)	15						GGGGGCCGCGGCCAGCACTCT	0.637000													7	3					5.68852e-11	6.7485e-11	1	1	0
IGKV1-5	28299	broad.mit.edu	37	2	89247033	89247033	+	RNA	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr2:89247033C>A	ENST00000496168.1	-	0	317																											CTGACTGGCCCGGCAAGTGAT	0.498000													43	107					1.64573e-32	2.5214e-32	1	1	0
ADAMTS1	9510	broad.mit.edu	37	21	28212677	28212677	+	Nonsense_Mutation	SNP	C	C	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr21:28212677C>T	ENST00000284984.2	-	5	2037	c.1583G>A	c.(1582-1584)tGg>tAg	p.W528*		NM_006988.3	NP_008919.3	Q9UHI8	ATS1_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 1	528	Disintegrin.				integrin-mediated signaling pathway|negative regulation of cell proliferation|proteolysis		heparin binding|zinc ion binding	p.W528*(1)		central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(20)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	42		Breast(209;0.000962)		Lung(58;0.215)		GCCATCCGCCCACGGGAAGTG	0.522000													58	53					0	0	1	0	0
KRTAP10-9	386676	broad.mit.edu	37	21	46047579	46047579	+	Missense_Mutation	SNP	A	A	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr21:46047579A>T	ENST00000397911.3	+	1	540	c.491A>T	c.(490-492)cAa>cTa	p.Q164L	TSPEAR_ENST00000323084.4_Intron|KRTAP10-9_ENST00000484861.1_Intron	NM_198690.2	NP_941963.2	P60411	KR109_HUMAN	keratin associated protein 10-9	164	25 X 5 AA repeats of C-C-X(3).					keratin filament		p.Q164L(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(6)	9						TCATGCTGCCAACAGTCTAGC	0.602000													57	245					0	0	1	0	0
THUMPD2	80745	broad.mit.edu	37	2	39997215	39997215	+	Nonsense_Mutation	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr2:39997215C>A	ENST00000505747.1	-	3	334	c.307G>T	c.(307-309)Gga>Tga	p.G103*	THUMPD2_ENST00000260619.6_Nonsense_Mutation_p.G73*|THUMPD2_ENST00000454352.2_Nonsense_Mutation_p.G73*|THUMPD2_ENST00000403537.3_5'UTR	NM_025264.4	NP_079540.2	Q9BTF0	THUM2_HUMAN	THUMP domain containing 2	103							methyltransferase activity	p.G73*(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|skin(1)	17		all_hematologic(82;0.248)				AACCAACTTCCTGGATCTTCA	0.289000													6	18					0.00448238	0.00463611	1	1	0
TMPRSS15	5651	broad.mit.edu	37	21	19687505	19687505	+	Missense_Mutation	SNP	C	C	A	rs139992374		TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr21:19687505C>A	ENST00000284885.3	-	17	2023	c.1990G>T	c.(1990-1992)Ggt>Tgt	p.G664C		NM_002772.2	NP_002763.2	P98073	ENTK_HUMAN	transmembrane protease, serine 15	664	LDL-receptor class A 2.				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity	p.G664C(1)		NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						TGCAGATGACCGTCACAGAGA	0.398000													128	232					6.32167e-57	1.12146e-56	1	1	0
ESYT2	57488	broad.mit.edu	37	7	158529746	158529746	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr7:158529746C>A	ENST00000251527.5	-	19	2538	c.2473G>T	c.(2473-2475)Gat>Tat	p.D825Y	ESYT2_ENST00000435514.2_Missense_Mutation_p.D260Y	NM_020728.2	NP_065779.1	A0FGR8	ESYT2_HUMAN	extended synaptotagmin-like protein 2	853	C2 3.					integral to membrane|plasma membrane		p.D825Y(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(16)|prostate(2)	32						TACCTTTGATCAAACACTGGA	0.463000													65	315					3.25985e-27	4.76504e-27	1	1	0
PHLPP1	23239	broad.mit.edu	37	18	60646229	60646229	+	Silent	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr18:60646229G>T	ENST00000400316.4	+	17	4964	c.3183G>T	c.(3181-3183)cgG>cgT	p.R1061R	PHLPP1_ENST00000262719.5_Silent_p.R1573R	NM_194449.3	NP_919431.2	O60346	PHLP1_HUMAN	PH domain and leucine rich repeat protein phosphatase 1	1573					apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	cytosol|membrane|nucleus	metal ion binding|protein serine/threonine phosphatase activity	p.R1573R(2)|p.R1060R(1)		endometrium(2)|kidney(2)|lung(13)	17						ACTGCAGCCGGGCCAAGGAGA	0.617000													27	27					1.15183e-24	1.65e-24	1	1	0
MUC17	140453	broad.mit.edu	37	7	100682038	100682038	+	Silent	SNP	A	A	G	rs142442389	byFrequency	TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr7:100682038A>G	ENST00000306151.4	+	3	7405	c.7341A>G	c.(7339-7341)ccA>ccG	p.P2447P		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2447	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	p.P2447P(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CCAGCATACCAACCTCACCTC	0.537000													14	505					0	0	1	0	0
SBSPON	157869	broad.mit.edu	37	8	73993266	73993266	+	Missense_Mutation	SNP	C	C	G			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr8:73993266C>G	ENST00000297354.6	-	2	601	c.397G>C	c.(397-399)Ggg>Cgg	p.G133R	SBSPON_ENST00000519697.1_5'UTR	NM_153225.3	NP_694957.3	Q8IVN8	RPESP_HUMAN	somatomedin B and thrombospondin, type 1 domain containing	133					immune response	extracellular region	polysaccharide binding|scavenger receptor activity	p.G128W(1)|p.G128R(1)									TAGGTGTGCCCGCAGTCCTGG	0.582000													18	260					0	0	1	0	0
PPP1R9A	55607	broad.mit.edu	37	7	94540239	94540239	+	Missense_Mutation	SNP	C	C	T	rs140508899		TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr7:94540239C>T	ENST00000289495.5	+	1	1030	c.814C>T	c.(814-816)Cac>Tac	p.H272Y	PPP1R9A_ENST00000433881.1_Missense_Mutation_p.H272Y|PPP1R9A_ENST00000456331.2_Missense_Mutation_p.H272Y|PPP1R9A_ENST00000433360.1_Missense_Mutation_p.H272Y|PPP1R9A_ENST00000424654.1_Missense_Mutation_p.H272Y|PPP1R9A_ENST00000340694.4_Missense_Mutation_p.H272Y	NM_001166161.1	NP_001159633.1	Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A	272						cell junction|synapse|synaptosome	actin binding	p.H272Y(2)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			AGAGGATGCTCACAAGAGTAA	0.458000										HNSCC(28;0.073)			34	38					0	0	1	0	0
CRYBA4	1413	broad.mit.edu	37	22	27019232	27019232	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr22:27019232G>T	ENST00000354760.3	+	3	109	c.74G>T	c.(73-75)cGg>cTg	p.R25L	CRYBA4_ENST00000466315.1_Intron	NM_001886.2	NP_001877.1	P53673	CRBA4_HUMAN	crystallin, beta A4	25	Beta/gamma crystallin 'Greek key' 1.				camera-type eye development|visual perception	soluble fraction	structural constituent of eye lens	p.R25L(1)		large_intestine(6)|liver(1)|lung(6)|skin(3)|urinary_tract(2)	18						TTCCAGGGCCGGCGGCACGAG	0.602000													14	69					2.21704e-12	2.70866e-12	1	1	0
PER2	8864	broad.mit.edu	37	2	239157729	239157729	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr2:239157729C>A	ENST00000254657.3	-	22	3871	c.3592G>T	c.(3592-3594)Ggc>Tgc	p.G1198C	PER2_ENST00000254658.3_3'UTR|AC096574.4_ENST00000456601.1_RNA	NM_022817.2	NP_073728.1	O15055	PER2_HUMAN	period circadian clock 2	1198	CRY binding domain (By similarity).				circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|signal transducer activity	p.G1198F(1)		NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)		GCGGGCAGGCCGCCCGTCTGC	0.577000													18	58					1.61572e-30	2.41096e-30	1	1	0
GPR26	2849	broad.mit.edu	37	10	125447575	125447575	+	Missense_Mutation	SNP	T	T	G			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr10:125447575T>G	ENST00000284674.1	+	3	966	c.913T>G	c.(913-915)Tgc>Ggc	p.C305G		NM_153442.3	NP_703143.1	Q8NDV2	GPR26_HUMAN	G protein-coupled receptor 26	305					activation of adenylate cyclase activity by G-protein signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.C305G(1)		breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	20		Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)				CCGCAAAAGCTGCAAGGAGAT	0.592000													4	32					0	0	1	0	0
NLGN3	54413	broad.mit.edu	37	X	70375176	70375176	+	Silent	SNP	C	C	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chrX:70375176C>T	ENST00000374051.3	+	4	952	c.630C>T	c.(628-630)gtC>gtT	p.V210V	NLGN3_ENST00000358741.3_Silent_p.V230V|NLGN3_ENST00000536169.1_Silent_p.V190V|NLGN3_ENST00000476589.1_3'UTR	NM_018977.3	NP_061850.2	Q9NZ94	NLGN3_HUMAN	neuroligin 3	230					neuron cell-cell adhesion|positive regulation of synaptogenesis|receptor-mediated endocytosis|social behavior|synapse assembly	cell surface|endocytic vesicle|integral to plasma membrane|synapse	neurexin binding|receptor activity	p.V230V(1)|p.V210V(1)		biliary_tract(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	37	Renal(35;0.156)					ATGGCAATGTCATCGTCATCA	0.542000													36	199					0	0	1	0	0
ACTN2	88	broad.mit.edu	37	1	236882306	236882306	+	Silent	SNP	C	C	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr1:236882306C>T	ENST00000366578.4	+	3	520	c.354C>T	c.(352-354)ggC>ggT	p.G118G	ACTN2_ENST00000542672.1_Silent_p.G118G|ACTN2_ENST00000492634.1_3'UTR	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	118	Actin-binding.|CH 1.				focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding	p.G118G(1)		endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			TGTCCATTGGCGCTGAAGGTG	0.512000													14	22					0	0	1	0	0
PIEZO2	63895	broad.mit.edu	37	18	10672688	10672688	+	Splice_Site	SNP	C	C	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr18:10672688C>T	ENST00000302079.6	-	50	7815	c.7817_splice	c.e50+1	p.G2606_splice	PIEZO2_ENST00000538948.1_Splice_Site_p.G626_splice|PIEZO2_ENST00000503781.3_Splice_Site_p.G2669_splice|PIEZO2_ENST00000580640.1_Splice_Site_p.G2694_splice|PIEZO2_ENST00000285141.4_Splice_Site_p.G461_splice|PIEZO2_ENST00000581680.1_5'UTR			Q9H5I5	PIEZ2_HUMAN	piezo-type mechanosensitive ion channel component 2	2669						integral to membrane	ion channel activity	p.G461S(1)|p.G2669S(1)									AGTCCTTACCCATAGCCAGCC	0.438000													8	127					0	0	1	0	0
FAM47A	158724	broad.mit.edu	37	X	34148608	34148608	+	Silent	SNP	A	A	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chrX:34148608A>T	ENST00000346193.3	-	1	1839	c.1788T>A	c.(1786-1788)tcT>tcA	p.S596S		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	596								p.S596S(1)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						GAAGAGAGTCAGAAACGCACT	0.453000													7	75					0	0	1	0	0
FRMPD4	9758	broad.mit.edu	37	X	12735148	12735148	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chrX:12735148C>A	ENST00000380682.1	+	15	3076	c.2570C>A	c.(2569-2571)gCc>gAc	p.A857D		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	857					positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding	p.A847D(1)		breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						CCCACCAGCGCCGAAGGCAAG	0.572000													76	63					5.64992e-62	1.01169e-61	1	1	0
ZNF157	7712	broad.mit.edu	37	X	47271905	47271905	+	Nonsense_Mutation	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chrX:47271905G>T	ENST00000377073.3	+	4	519	c.433G>T	c.(433-435)Gag>Tag	p.E145*		NM_003446.3	NP_003437.2	P51786	ZN157_HUMAN	zinc finger protein 157	145					negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.E145*(1)		central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	11						AGCCTTCCATGAGAAAACAGG	0.388000													109	75					6.95862e-65	1.25782e-64	1	1	0
LRRC37A3	374819	broad.mit.edu	37	17	62856639	62856639	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr17:62856639G>T	ENST00000584306.1	-	11	4155	c.3625C>A	c.(3625-3627)Cca>Aca	p.P1209T	LRRC37A3_ENST00000334962.5_Missense_Mutation_p.P186T|LRRC37A3_ENST00000400877.3_Missense_Mutation_p.P247T|LRRC37A3_ENST00000319651.5_Missense_Mutation_p.P1209T|LRRC37A3_ENST00000339474.5_Missense_Mutation_p.P327T	NM_199340.2	NP_955372.2	O60309	L37A3_HUMAN	leucine rich repeat containing 37, member A3	1209						integral to membrane		p.P1209T(1)		NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|liver(1)|lung(10)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						CTTGGGGCTGGACTTCCGAGC	0.552000													26	14					3.76114e-14	4.68507e-14	1	1	0
ZNF560	147741	broad.mit.edu	37	19	9578658	9578658	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr19:9578658C>A	ENST00000301480.4	-	10	1178	c.965G>T	c.(964-966)tGg>tTg	p.W322L		NM_152476.2	NP_689689.2	Q96MR9	ZN560_HUMAN	zinc finger protein 560	322					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.W322L(1)		NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						ACATTGCTTCCATTCATTGAG	0.388000													80	33					6.64032e-35	1.05108e-34	1	1	0
TRAPPC12	51112	broad.mit.edu	37	2	3405596	3405596	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr2:3405596G>T	ENST00000324266.5	+	3	1291	c.1096G>T	c.(1096-1098)Gca>Tca	p.A366S	TRAPPC12_ENST00000382110.2_Missense_Mutation_p.A366S	NM_016030.5	NP_057114.5	Q8WVT3	TTC15_HUMAN	trafficking protein particle complex 12	366							binding	p.A366S(1)									TGAAAAAGCTGCAGCAAAGAG	0.378000													67	125					3.20846e-33	4.95539e-33	1	1	0
ARHGAP32	9743	broad.mit.edu	37	11	128839021	128839021	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr11:128839021G>T	ENST00000310343.9	-	22	6044	c.6045C>A	c.(6043-6045)agC>agA	p.S2015R	ARHGAP32_ENST00000392657.3_Missense_Mutation_p.S1666R|ARHGAP32_ENST00000527272.1_Missense_Mutation_p.S1666R|ARHGAP32_ENST00000524655.1_3'UTR	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	2015	Interaction with FYN.				cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding	p.S2015R(1)|p.S1666R(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						CAGTCACACTGCTCTGGCGCT	0.562000													18	34					8.34094e-07	9.31648e-07	1	1	0
PGM2	55276	broad.mit.edu	37	4	37841740	37841740	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr4:37841740C>T	ENST00000381967.4	+	6	678	c.578C>T	c.(577-579)tCt>tTt	p.S193F	PGM2_ENST00000544359.1_Missense_Mutation_p.S54F|PGM2_ENST00000537241.1_Missense_Mutation_p.S33F	NM_018290.3	NP_060760.2	Q96G03	PGM2_HUMAN	phosphoglucomutase 2	193					glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	magnesium ion binding|phosphoglucomutase activity|phosphopentomutase activity	p.S193F(1)		breast(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1)	19						AAAGGGATTTCTCAAGCTATT	0.418000													7	212					0	0	1	0	0
ABL2	27	broad.mit.edu	37	1	179079508	179079508	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr1:179079508C>A	ENST00000502732.1	-	11	1937	c.1734G>T	c.(1732-1734)aaG>aaT	p.K578N	ABL2_ENST00000367623.4_Missense_Mutation_p.K557N|ABL2_ENST00000504405.1_Missense_Mutation_p.K542N|ABL2_ENST00000507173.1_Missense_Mutation_p.K557N|ABL2_ENST00000511413.1_Missense_Mutation_p.K578N|ABL2_ENST00000408940.3_Missense_Mutation_p.K542N|ABL2_ENST00000344730.3_Missense_Mutation_p.K563N|ABL2_ENST00000512653.1_Missense_Mutation_p.K563N	NM_001168236.1|NM_001168237.1|NM_001168238.1|NM_007314.3	NP_001161708.1|NP_001161709.1|NP_001161710.1|NP_009298.1	P42684	ABL2_HUMAN	c-abl oncogene 2, non-receptor tyrosine kinase	578					axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction	cytoskeleton|cytosol	ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding	p.K542N(1)|p.K578N(1)		breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	65					Adenosine triphosphate(DB00171)|Dasatinib(DB01254)	GTGTCCGAGTCTTGGAAGGAA	0.522000			T	ETV6	AML								69	164					4.8811e-34	7.64172e-34	1	1	0
NLGN3	54413	broad.mit.edu	37	X	70375182	70375182	+	Silent	SNP	C	C	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chrX:70375182C>T	ENST00000374051.3	+	4	958	c.636C>T	c.(634-636)gtC>gtT	p.V212V	NLGN3_ENST00000358741.3_Silent_p.V232V|NLGN3_ENST00000536169.1_Silent_p.V192V|NLGN3_ENST00000476589.1_3'UTR	NM_018977.3	NP_061850.2	Q9NZ94	NLGN3_HUMAN	neuroligin 3	232					neuron cell-cell adhesion|positive regulation of synaptogenesis|receptor-mediated endocytosis|social behavior|synapse assembly	cell surface|endocytic vesicle|integral to plasma membrane|synapse	neurexin binding|receptor activity	p.V212V(1)|p.V232V(1)		biliary_tract(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	37	Renal(35;0.156)					ATGTCATCGTCATCACCCTCA	0.537000													41	198					0	0	1	0	0
PLCG2	5336	broad.mit.edu	37	16	81957157	81957157	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr16:81957157G>T	ENST00000359376.3	+	22	2589	c.2375G>T	c.(2374-2376)cGt>cTt	p.R792L		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	792	SH3.				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	p.R792L(2)		NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						AGCTTCTGCCGTGGTGCCCTC	0.567000													21	24					3.73988e-18	4.91503e-18	1	1	0
PPP1R3C	5507	broad.mit.edu	37	10	93390364	93390364	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr10:93390364C>A	ENST00000238994.5	-	2	358	c.274G>T	c.(274-276)Ggc>Tgc	p.G92C		NM_005398.5	NP_005389.1	Q9UQK1	PPR3C_HUMAN	protein phosphatase 1, regulatory subunit 3C	92							protein serine/threonine phosphatase activity	p.G92C(1)		breast(1)|endometrium(1)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(1)	12		Colorectal(252;0.235)				AGAGAGAGGCCCTTGGAGTCA	0.478000													21	85					3.83957e-06	4.19861e-06	1	1	0
TRIM48	79097	broad.mit.edu	37	11	55032517	55032517	+	Silent	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr11:55032517C>A	ENST00000417545.2	+	2	272	c.186C>A	c.(184-186)atC>atA	p.I62I		NM_024114.3	NP_077019.2	Q8IWZ4	TRI48_HUMAN	tripartite motif containing 48	46						intracellular	zinc ion binding	p.I62I(1)|p.I46I(1)		endometrium(13)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						GGCAAGACATCCCAATTCTTA	0.458000													21	77					3.83957e-06	4.19861e-06	1	1	0
LILRP2	79166	broad.mit.edu	37	19	55222203	55222203	+	RNA	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr19:55222203G>T	ENST00000413439.1	+	0	1718																											TGAGGCCGCTGACCCTGTCCT	0.637000													17	39					1.2476e-16	1.59927e-16	1	1	0
HIST1H2AJ	8331	broad.mit.edu	37	6	27782248	27782248	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr6:27782248C>T	ENST00000333151.3	-	1	359	c.271G>A	c.(271-273)Gat>Aat	p.D91N		NM_021066.2	NP_066544.1	Q99878	H2A1J_HUMAN	histone cluster 1, H2aj	91					nucleosome assembly	nucleosome|nucleus	DNA binding	p.D91N(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(2)	11						AGCTCCTCATCGTTGCGGATG	0.612000													13	23					0	0	1	0	0
TRBV9	28586	broad.mit.edu	37	7	142239624	142239624	+	RNA	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr7:142239624G>T	ENST00000390363.2	-	0	302																											GGGAACTGTTGTGCGGAGAAT	0.502000													80	111					2.35497e-27	3.45115e-27	1	1	0
CNGB3	54714	broad.mit.edu	37	8	87738759	87738759	+	Splice_Site	SNP	C	C	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr8:87738759C>T	ENST00000320005.5	-	3	385	c.338_splice	c.e3+1	p.S113_splice	RP11-386D6.1_ENST00000519041.1_RNA|CNGB3_ENST00000519777.1_5'UTR	NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	113					signal transduction|visual perception	integral to membrane	cGMP binding	p.S113N(1)		NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						AAATGCTCACCTGTTTGGACC	0.458000													68	122					0	0	1	0	0
SLC25A22	79751	broad.mit.edu	37	11	792399	792399	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr11:792399C>A	ENST00000320230.5	-	8	1128	c.647G>T	c.(646-648)cGc>cTc	p.R216L	SLC25A22_ENST00000531214.1_Missense_Mutation_p.R216L	NM_001191061.1|NM_024698.5	NP_001177990.1|NP_078974.1	Q9H936	GHC1_HUMAN	solute carrier family 25 (mitochondrial carrier: glutamate), member 22	216						integral to membrane|mitochondrial inner membrane|nucleus	L-glutamate transmembrane transporter activity|protein binding|symporter activity	p.R216L(1)		endometrium(1)|kidney(1)|lung(2)|urinary_tract(1)	5		all_cancers(49;4.75e-06)|all_epithelial(84;0.00204)|Breast(177;0.00234)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;6.27e-26)|Epithelial(43;4.84e-25)|OV - Ovarian serous cystadenocarcinoma(40;2.72e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	L-Glutamic Acid(DB00142)	GGACGCCGGGCGGCCCAGCTG	0.662000													6	6					2.0095e-06	2.22286e-06	1	1	0
CASZ1	54897	broad.mit.edu	37	1	10725565	10725565	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr1:10725565C>T	ENST00000377022.3	-	5	397	c.80G>A	c.(79-81)gGt>gAt	p.G27D	CASZ1_ENST00000344008.5_Missense_Mutation_p.G27D|CASZ1_ENST00000478728.2_5'UTR	NM_001079843.1	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	27					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	p.G27V(1)|p.G27D(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		CTTCAGGCCACCCTTGCGTTT	0.692000													2	1					0	0	1	0	0
SPARCL1	8404	broad.mit.edu	37	4	88416205	88416205	+	Silent	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr4:88416205G>T	ENST00000418378.1	-	4	700	c.129C>A	c.(127-129)ccC>ccA	p.P43P	SPARCL1_ENST00000282470.6_Silent_p.P43P|SPARCL1_ENST00000503414.1_5'UTR	NM_001128310.1	NP_001121782.1	Q14515	SPRL1_HUMAN	SPARC-like 1 (hevin)	43	O-glycosylated at two sites.				signal transduction	extracellular space|proteinaceous extracellular matrix	calcium ion binding	p.P43P(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(2)	21				OV - Ovarian serous cystadenocarcinoma(123;0.00118)		CCCTTAAACTGGGGATTGCAG	0.358000													57	108					6.83469e-46	1.14511e-45	1	1	0
OR52A5	390054	broad.mit.edu	37	11	5153664	5153664	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr11:5153664G>T	ENST00000307388.1	-	1	208	c.209C>A	c.(208-210)gCc>gAc	p.A70D		NM_001005160.2	NP_001005160.1	Q9H2C5	O52A5_HUMAN	olfactory receptor, family 52, subfamily A, member 5	70					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A70D(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(18)|skin(3)	35		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)		AATGTCTGTGGCTGCCAACAT	0.363000													35	87					1.02591e-13	1.27239e-13	1	1	0
HYAL4	23553	broad.mit.edu	37	7	123509169	123509169	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr7:123509169G>T	ENST00000223026.4	+	3	1480	c.842G>T	c.(841-843)cGg>cTg	p.R281L	HYAL4_ENST00000476325.1_Missense_Mutation_p.R281L	NM_012269.2	NP_036401.2	Q2M3T9	HYAL4_HUMAN	hyaluronoglucosaminidase 4	281					fusion of sperm to egg plasma membrane|glycosaminoglycan catabolic process	integral to membrane	hyalurononglucosaminidase activity	p.R281L(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	23						TCCAAATTTCGGGTGCATGAA	0.443000													19	67					6.21321e-17	8.00038e-17	1	1	0
TCEAL6	158931	broad.mit.edu	37	X	101395859	101395859	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chrX:101395859C>A	ENST00000372774.3	-	3	694	c.445G>T	c.(445-447)Gct>Tct	p.A149S	TCEAL6_ENST00000372773.1_Missense_Mutation_p.A149S	NM_001006938.2	NP_001006939.2	Q6IPX3	TCAL6_HUMAN	transcription elongation factor A (SII)-like 6	149					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		p.A149S(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	14						TCCTCCTGAGCCCTTGACACA	0.517000													127	84					2.48536e-91	4.57914e-91	1	1	0
MYO9A	4649	broad.mit.edu	37	15	72197314	72197314	+	Nonsense_Mutation	SNP	G	G	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr15:72197314G>A	ENST00000356056.5	-	20	3191	c.2719C>T	c.(2719-2721)Caa>Taa	p.Q907*	MYO9A_ENST00000564571.1_Nonsense_Mutation_p.Q907*|MYO9A_ENST00000444904.1_Nonsense_Mutation_p.Q888*|MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000424560.1_Nonsense_Mutation_p.Q907*|MYO9A_ENST00000566885.1_Nonsense_Mutation_p.Q527*	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	907	Actin-binding (By similarity).|Myosin head-like 2.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity	p.Q907*(1)		NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						GGTTCTGCTTGACCAAGTGTT	0.328000													27	607					0	0	1	0	0
ADAMTS5	11096	broad.mit.edu	37	21	28304454	28304454	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr21:28304454G>T	ENST00000284987.5	-	6	2039	c.1918C>A	c.(1918-1920)Cag>Aag	p.Q640K	AP001601.2_ENST00000426771.1_RNA	NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	640	Cys-rich.				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding	p.Q640K(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						GCATCAGACTGATAGCCATTT	0.418000													20	189					6.21321e-17	8.00038e-17	1	1	0
LRP1B	53353	broad.mit.edu	37	2	141116451	141116451	+	Silent	SNP	C	C	T	rs138052993	byFrequency	TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr2:141116451C>T	ENST00000389484.3	-	73	12167	c.11196G>A	c.(11194-11196)tcG>tcA	p.S3732S		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3732	LDL-receptor class A 31.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.S3732S(1)		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)		ACATTTGCTCCGACTGTAGGC	0.383000										TSP Lung(27;0.18)			13	406					0	0	1	0	0
AKR7A3	22977	broad.mit.edu	37	1	19610596	19610596	+	Missense_Mutation	SNP	T	T	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr1:19610596T>A	ENST00000361640.4	-	6	1268	c.728A>T	c.(727-729)gAg>gTg	p.E243V		NM_012067.2	NP_036199.2	O95154	ARK73_HUMAN	aldo-keto reductase family 7, member A3 (aflatoxin aldehyde reductase)	243					cellular aldehyde metabolic process	cytosol	aldo-keto reductase (NADP) activity|electron carrier activity	p.E243V(1)		NS(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|ovary(1)|stomach(2)	13		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;1.78e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|GBM - Glioblastoma multiforme(114;0.00276)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GGCAATGCCCTCAAAGTGGTG	0.647000													12	6					0	0	1	0	0
ZXDA	7789	broad.mit.edu	37	X	57935364	57935364	+	Silent	SNP	C	C	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chrX:57935364C>T	ENST00000358697.4	-	1	1703	c.1491G>A	c.(1489-1491)ctG>ctA	p.L497L		NM_007156.4	NP_009087.1	P98168	ZXDA_HUMAN	zinc finger, X-linked, duplicated A	497	Required for interaction with ZXDC.				positive regulation of transcription, DNA-dependent	nucleus	C2H2 zinc finger domain binding|identical protein binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.L497L(1)		breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|prostate(2)|skin(1)	37						TGTGGCCTTTCAGATGTTCGG	0.542000													24	20					0	0	1	0	0
IL2RB	3560	broad.mit.edu	37	22	37532295	37532295	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr22:37532295G>T	ENST00000216223.5	-	7	874	c.676C>A	c.(676-678)Ccc>Acc	p.P226T		NM_000878.3	NP_000869.1	P14784	IL2RB_HUMAN	interleukin 2 receptor, beta	226	Fibronectin type-III.				interspecies interaction between organisms|positive regulation of survival gene product expression|protein complex assembly	external side of plasma membrane|integral to plasma membrane	interleukin-2 receptor activity	p.P226T(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(5)	23					Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)	AAGGCCAGGGGCTGGCTCCAG	0.647000													19	34					4.54149e-19	6.05179e-19	1	1	0
FBN2	2201	broad.mit.edu	37	5	127597560	127597560	+	Nonsense_Mutation	SNP	G	G	C			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr5:127597560G>C	ENST00000508053.1	-	70	9206	c.8232C>G	c.(8230-8232)taC>taG	p.Y2744*	FBN2_ENST00000262464.4_Nonsense_Mutation_p.Y2744*			P35556	FBN2_HUMAN	fibrillin 2	2744					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	p.Y2744*(2)		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)		CCAGTGACAGGTACTGCCCCT	0.438000													53	81					0	0	1	0	0
STON2	85439	broad.mit.edu	37	14	81837395	81837395	+	Missense_Mutation	SNP	C	C	G			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr14:81837395C>G	ENST00000555447.1	-	5	920	c.508G>C	c.(508-510)Gat>Cat	p.D170H	STON2_ENST00000267540.2_Missense_Mutation_p.D170H	NM_001256430.1	NP_001243359.1	Q8WXE9	STON2_HUMAN	stonin 2	170					endocytosis|intracellular protein transport|regulation of endocytosis	clathrin adaptor complex|nucleolus	protein binding	p.D170H(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5)	34				BRCA - Breast invasive adenocarcinoma(234;0.0348)		AGCTGCAGATCTGTATACGAA	0.532000													58	182					0	0	1	0	0
ILF2	3608	broad.mit.edu	37	1	153640105	153640105	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr1:153640105G>A	ENST00000361891.4	-	6	445	c.320C>T	c.(319-321)tCc>tTc	p.S107F	ILF2_ENST00000368681.1_Missense_Mutation_p.S107F	NM_001267809.1|NM_004515.3	NP_001254738.1|NP_004506.2	Q12905	ILF2_HUMAN	interleukin enhancer binding factor 2	107	DZF.				immune response|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus|ribonucleoprotein complex	ATP binding|DNA binding|double-stranded RNA binding|protein binding|transferase activity	p.S107F(1)		cervix(1)|kidney(1)|lung(4)|skin(1)	7	all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			CTTTTTATAGGATCCCACCTG	0.448000													31	384					0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	55721550	55721550	+	Silent	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr10:55721550G>T	ENST00000373965.2	-	23	3386	c.2992C>A	c.(2992-2994)Cga>Aga	p.R998R	PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000437009.1_Silent_p.R920R|PCDH15_ENST00000395430.1_Silent_p.R991R|PCDH15_ENST00000320301.6_Silent_p.R991R|PCDH15_ENST00000409834.1_Silent_p.R602R|PCDH15_ENST00000361849.3_Silent_p.R991R|PCDH15_ENST00000414778.1_Silent_p.R996R|PCDH15_ENST00000395445.1_Silent_p.R998R|PCDH15_ENST00000395433.1_Silent_p.R969R|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395438.1_Silent_p.R991R|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395432.2_Silent_p.R954R|PCDH15_ENST00000395446.1_Intron	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	991	Cadherin 9.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	p.R991R(2)|p.R996R(2)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				AGATTGACTCGTGTTATTACT	0.348000										HNSCC(58;0.16)			22	110					6.12954e-19	8.09268e-19	1	1	0
RYR1	6261	broad.mit.edu	37	19	38983214	38983214	+	Missense_Mutation	SNP	G	G	T	rs139775280		TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr19:38983214G>T	ENST00000355481.4	+	38	6343	c.6212G>T	c.(6211-6213)cGg>cTg	p.R2071L	RYR1_ENST00000360985.3_Missense_Mutation_p.R2071L|RYR1_ENST00000359596.3_Missense_Mutation_p.R2071L	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	2071	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.R2071L(1)		NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GAGAAAGTGCGGCTGGTGAAG	0.592000													8	10					6.72482e-11	7.96141e-11	1	1	0
FEM1A	55527	broad.mit.edu	37	19	4793326	4793326	+	Missense_Mutation	SNP	A	A	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr19:4793326A>T	ENST00000269856.3	+	1	1599	c.1460A>T	c.(1459-1461)gAc>gTc	p.D487V	AC005523.2_ENST00000601192.1_RNA	NM_018708.2	NP_061178.1	Q9BSK4	FEM1A_HUMAN	fem-1 homolog a (C. elegans)	487					regulation of ubiquitin-protein ligase activity	cytoplasm	binding|ubiquitin-protein ligase activity	p.D487V(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	17		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)		GAGCCCGGAGACTCAGCCCAG	0.642000													13	6					0	0	1	0	0
GRIA1	2890	broad.mit.edu	37	5	153085295	153085295	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr5:153085295G>T	ENST00000285900.5	+	11	1834	c.1491G>T	c.(1489-1491)ttG>ttT	p.L497F	GRIA1_ENST00000340592.5_Missense_Mutation_p.L497F|GRIA1_ENST00000518142.1_Missense_Mutation_p.L417F|GRIA1_ENST00000518783.1_Missense_Mutation_p.L507F|GRIA1_ENST00000521843.2_Missense_Mutation_p.L428F|GRIA1_ENST00000448073.4_Missense_Mutation_p.L507F	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	497					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding	p.L497F(2)|p.I495fs*19(2)		NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	CTATCACTTTGGTCCGGGAAG	0.388000													4	12					0.00024832	0.0002606	1	1	0
FRG2B	441581	broad.mit.edu	37	10	135440087	135440087	+	Nonsense_Mutation	SNP	T	T	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr10:135440087T>A	ENST00000443774.1	-	1	209	c.160A>T	c.(160-162)Aag>Tag	p.K54*	FRG2B_ENST00000425520.1_Nonsense_Mutation_p.K54*			Q96QU4	FRG2B_HUMAN	FSHD region gene 2 family, member B	54						nucleus		p.K54*(1)		endometrium(2)|kidney(2)|lung(14)|ovary(1)|prostate(1)	20		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)		TGTATGTGCTTCTCACTGGAA	0.488000													15	21					0	0	1	0	0
PXDN	7837	broad.mit.edu	37	2	1652268	1652268	+	Missense_Mutation	SNP	T	T	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr2:1652268T>A	ENST00000252804.4	-	17	3334	c.3284A>T	c.(3283-3285)cAc>cTc	p.H1095L		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	1095					extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity	p.H1095L(1)		breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		AAGGGGGAGGTGATCTTGTGC	0.582000													6	10					0	0	1	0	0
OR8J1	219477	broad.mit.edu	37	11	56128658	56128658	+	Silent	SNP	C	C	T	rs148720229		TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr11:56128658C>T	ENST00000303039.3	+	1	968	c.936C>T	c.(934-936)tcC>tcT	p.S312S		NM_001005205.2	NP_001005205.2	Q8NGP2	OR8J1_HUMAN	olfactory receptor, family 8, subfamily J, member 1	312					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S312S(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	47	Esophageal squamous(21;0.00448)					TGTGCTATTCCTTTAAAACAA	0.353000													41	54					0	0	1	0	0
MAGEB2	4113	broad.mit.edu	37	X	30237624	30237624	+	Missense_Mutation	SNP	A	A	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chrX:30237624A>T	ENST00000378988.4	+	2	1028	c.927A>T	c.(925-927)gaA>gaT	p.E309D		NM_002364.4	NP_002355.2	O15479	MAGB2_HUMAN	melanoma antigen family B, 2	309	MAGE.						protein binding	p.E309D(2)		breast(1)|large_intestine(3)|lung(17)|ovary(1)|skin(1)	23						ATTACGAAGAAGCTTTGAAAG	0.498000													38	12					0	0	1	0	0
RTDR1	27156	broad.mit.edu	37	22	23401723	23401723	+	Nonsense_Mutation	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr22:23401723C>A	ENST00000216036.4	-	7	1160	c.964G>T	c.(964-966)Gag>Tag	p.E322*		NM_014433.2	NP_055248.1	Q9UHP6	RTDR1_HUMAN	rhabdoid tumor deletion region gene 1	322							binding	p.E322*(1)		breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	18	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.175)		TCGTAAGTCTCCACCTCCATG	0.617000													30	38					1.36161e-19	1.82291e-19	1	1	0
MTHFSD	64779	broad.mit.edu	37	16	86582165	86582165	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr16:86582165C>A	ENST00000322911.6	-	4	303	c.253G>T	c.(253-255)Gtt>Ttt	p.V85F	MTHFSD_ENST00000381214.5_Missense_Mutation_p.V86F|MTHFSD_ENST00000568037.1_5'UTR|MTHFSD_ENST00000546093.1_5'UTR|MTHFSD_ENST00000360900.6_Missense_Mutation_p.V86F|MTHFSD_ENST00000543303.2_Missense_Mutation_p.V85F	NM_001159377.1|NM_022764.2	NP_001152849.1|NP_073601.2	Q2M296	MTHSD_HUMAN	methenyltetrahydrofolate synthetase domain containing	86					folic acid-containing compound biosynthetic process		5-formyltetrahydrofolate cyclo-ligase activity|ATP binding|RNA binding	p.V85F(1)|p.V86F(1)		endometrium(1)|large_intestine(3)|lung(6)|skin(1)	11						GGTGTTGGAACCAACAATGTT	0.358000													9	34					0.00829132	0.0085142	1	1	0
DMXL2	23312	broad.mit.edu	37	15	51829946	51829946	+	Silent	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr15:51829946C>A	ENST00000251076.5	-	11	1643	c.1356G>T	c.(1354-1356)ctG>ctT	p.L452L	DMXL2_ENST00000449909.3_Silent_p.L452L|DMXL2_ENST00000543779.2_Silent_p.L452L	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	452						cell junction|synaptic vesicle membrane	Rab GTPase binding	p.L452L(1)		breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		ATTCTCTATCCAGGGATAAAT	0.338000													47	94					3.57465e-26	5.15938e-26	1	1	0
EPHA5	2044	broad.mit.edu	37	4	66217258	66217258	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr4:66217258G>T	ENST00000273854.3	-	14	2957	c.2357C>A	c.(2356-2358)gCa>gAa	p.A786E	EPHA5_ENST00000354839.4_Missense_Mutation_p.A764E|EPHA5_ENST00000511294.1_Missense_Mutation_p.A787E|EPHA5_ENST00000432638.2_Missense_Mutation_p.A623E	NM_004439.5	NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	786	Protein kinase.				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity	p.A786E(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						CTTCATTCCTGCAGAGATACC	0.413000										TSP Lung(17;0.13)			79	77					1.0627e-70	1.92699e-70	1	1	0
IL12A-AS1	101928376	broad.mit.edu	37	3	159819567	159819567	+	RNA	SNP	G	G	A	rs11921898	by1000genomes	TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr3:159819567G>A	ENST00000497452.1	-	0	517																											GAGAGAGCAGGAGCATCTTGA	0.433000													3	45					0	0	1	0	0
MFSD8	256471	broad.mit.edu	37	4	128863281	128863281	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr4:128863281C>A	ENST00000296468.3	-	6	599	c.472G>T	c.(472-474)Ggt>Tgt	p.G158C	MFSD8_ENST00000513559.1_Missense_Mutation_p.G113C|MFSD8_ENST00000541133.1_Missense_Mutation_p.G113C|MFSD8_ENST00000515130.1_5'UTR	NM_152778.2	NP_689991.1	Q8NHS3	MFSD8_HUMAN	major facilitator superfamily domain containing 8	158					cell death|transmembrane transport	integral to membrane|lysosomal membrane		p.G158F(1)		cervix(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)	23						GAAGTAGCACCAGCAGTATAT	0.353000													54	96					1.53134e-21	2.11435e-21	1	1	0
CDH23	64072	broad.mit.edu	37	10	73550900	73550900	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr10:73550900G>T	ENST00000224721.6	+	46	6081	c.6076G>T	c.(6076-6078)Gtg>Ttg	p.V2026L		NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	2021	Cadherin 19.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding	p.V2026L(1)		NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						TGTGGTGACCGTGAGGTCAGG	0.622000													3	3					6.4e-05	6.84179e-05	1	1	0
MSANTD3	91283	broad.mit.edu	37	9	103204311	103204311	+	Missense_Mutation	SNP	G	G	C			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr9:103204311G>C	ENST00000395067.2	+	2	362	c.91G>C	c.(91-93)Gtg>Ctg	p.V31L	MSANTD3_ENST00000374885.1_Missense_Mutation_p.V31L	NM_001198805.1|NM_001198806.1|NM_080655.2	NP_001185734.1|NP_001185735.1|NP_542386.1			Myb/SANT-like DNA-binding domain containing 3									p.V31L(2)		endometrium(2)|lung(2)	4						GTATAAATATGTGCTGGAATG	0.448000													12	37					0	0	1	0	0
SHPK	23729	broad.mit.edu	37	17	3514090	3514090	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr17:3514090C>A	ENST00000225519.3	-	7	1303	c.1201G>T	c.(1201-1203)Gct>Tct	p.A401S		NM_013276.2	NP_037408.2	Q9UHJ6	SHPK_HUMAN	sedoheptulokinase	401					carbohydrate metabolic process	cytoplasm	ATP binding|sedoheptulokinase activity	p.A401S(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				COAD - Colon adenocarcinoma(5;0.0828)		CGGCACAGAGCCCGGGTCACG	0.647000													8	44					0.00829132	0.0085142	1	1	0
TRPM3	80036	broad.mit.edu	37	9	73235267	73235267	+	Silent	SNP	C	C	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr9:73235267C>T	ENST00000377110.2	-	15	2061	c.1818G>A	c.(1816-1818)ttG>ttA	p.L606L	TRPM3_ENST00000377105.1_Silent_p.L465L|TRPM3_ENST00000377106.1_Silent_p.L478L|TRPM3_ENST00000408909.2_Silent_p.L465L|TRPM3_ENST00000396280.5_Silent_p.L455L|TRPM3_ENST00000377111.2_Silent_p.L606L|TRPM3_ENST00000396285.1_Silent_p.L453L|TRPM3_ENST00000358082.3_Silent_p.L468L|TRPM3_ENST00000357533.2_Silent_p.L610L|TRPM3_ENST00000396292.4_Silent_p.L478L|TRPM3_ENST00000423814.3_Silent_p.L633L|TRPM3_ENST00000360823.2_Silent_p.L468L	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	631						integral to membrane	calcium channel activity	p.L610L(1)|p.L606L(1)|p.L478L(1)		NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						TTCCTCGCCTCAAGGGAATAT	0.438000													70	322					0	0	1	0	0
TMEM222	84065	broad.mit.edu	37	1	27658583	27658583	+	Missense_Mutation	SNP	A	A	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr1:27658583A>T	ENST00000374076.4	+	3	340	c.302A>T	c.(301-303)aAg>aTg	p.K101M		NM_032125.2	NP_115501.2	Q9H0R3	TM222_HUMAN	transmembrane protein 222	101				K -> E (in Ref. 5; BAD96362).		integral to membrane	protein binding	p.K101M(1)		biliary_tract(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	7						GCCTTTGGAAAGCCTGCCAAG	0.577000													82	72					0	0	1	0	0
UBN1	29855	broad.mit.edu	37	16	4924652	4924652	+	Silent	SNP	G	G	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr16:4924652G>A	ENST00000396658.4	+	14	2944	c.2241G>A	c.(2239-2241)ggG>ggA	p.G747G	UBN1_ENST00000590769.1_Silent_p.G747G|UBN1_ENST00000545171.1_Silent_p.G747G|UBN1_ENST00000262376.6_Silent_p.G747G	NM_016936.3	NP_058632.2	Q9NPG3	UBN1_HUMAN	ubinuclein 1	747					chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter	PML body|tight junction	DNA binding|sequence-specific DNA binding transcription factor activity	p.G747G(1)		NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						TGGCACTGGGGCAGTCCTCTC	0.527000													35	98					0	0	1	0	0
COL11A1	1301	broad.mit.edu	37	1	103471410	103471410	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr1:103471410C>A	ENST00000358392.2	-	18	2182	c.1865G>T	c.(1864-1866)gGt>gTt	p.G622V	COL11A1_ENST00000461720.1_5'UTR|COL11A1_ENST00000370096.3_Missense_Mutation_p.G610V|COL11A1_ENST00000353414.4_Missense_Mutation_p.G571V|COL11A1_ENST00000512756.1_Missense_Mutation_p.G494V	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	610	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	p.G622V(1)|p.G610V(1)		NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		ACCTTTGTCACCTGGCAGACC	0.363000													74	58					8.2166e-39	1.34134e-38	1	1	0
ANK2	287	broad.mit.edu	37	4	114158754	114158754	+	Splice_Site	SNP	G	G	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr4:114158754G>A	ENST00000357077.4	+	7	722		c.e7-1		ANK2_ENST00000394537.3_Splice_Site|ANK2_ENST00000506722.1_Splice_Site|ANK2_ENST00000264366.6_Splice_Site	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal						axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	p.?(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		CACTGCTTCAGATGATGGTGA	0.363000													40	63					0	0	1	0	0
CLEC16A	23274	broad.mit.edu	37	16	11219945	11219945	+	Silent	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr16:11219945G>T	ENST00000409790.1	+	22	2813	c.2583G>T	c.(2581-2583)cgG>cgT	p.R861R	CLEC16A_ENST00000381822.2_5'UTR|CLEC16A_ENST00000409552.3_Silent_p.R843R	NM_015226.2	NP_056041.1	Q2KHT3	CL16A_HUMAN	C-type lectin domain family 16, member A	861								p.R861R(1)|p.0?(1)		breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						AGGGGCGCCGGGGCAGCAGCG	0.657000													10	25					5.01169e-05	5.36767e-05	1	1	0
KIAA1377	57562	broad.mit.edu	37	11	101793446	101793446	+	Missense_Mutation	SNP	G	G	T	rs142032267		TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr11:101793446G>T	ENST00000263468.8	+	2	473	c.203G>T	c.(202-204)cGa>cTa	p.R68L		NM_020802.2	NP_065853.2	Q9P2H0	K1377_HUMAN	KIAA1377	68							protein binding	p.R68L(1)		breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		AAAATATGTCGAAATCGAGCA	0.303000													6	11					0.00116845	0.0012129	1	1	0
NUP188	23511	broad.mit.edu	37	9	131731775	131731775	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr9:131731775G>T	ENST00000372577.2	+	10	915	c.894G>T	c.(892-894)caG>caT	p.Q298H		NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	298					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding	p.Q298H(1)		breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						AGTTTGCGCAGGATGGGCTTA	0.423000													48	162					2.76378e-25	3.96904e-25	1	1	0
OTOP3	347741	broad.mit.edu	37	17	72938029	72938029	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr17:72938029G>T	ENST00000328801.4	+	3	524	c.524G>T	c.(523-525)tGc>tTc	p.C175F		NM_178233.1	NP_839947.1	Q7RTS5	OTOP3_HUMAN	otopetrin 3	175						integral to membrane|intracellular	zinc ion binding	p.C175F(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_lung(278;0.151)|Lung NSC(278;0.185)					TGCACCTTCTGCCTCAACATC	0.622000													24	14					8.88839e-20	1.19555e-19	1	1	0
CCKAR	886	broad.mit.edu	37	4	26487314	26487314	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr4:26487314G>T	ENST00000295589.3	-	3	765	c.571C>A	c.(571-573)Cag>Aag	p.Q191K		NM_000730.2	NP_000721.1	P32238	CCKAR_HUMAN	cholecystokinin A receptor	191					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration|response to nutrient	integral to plasma membrane	cholecystokinin receptor activity	p.Q191K(1)		NS(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|pancreas(1)|skin(1)	29		Breast(46;0.0503)			Ceruletide(DB00403)	TTCGCGGTCTGGTTGTTATTT	0.408000													42	132					9.22156e-22	1.28563e-21	1	1	0
SPHKAP	80309	broad.mit.edu	37	2	228884540	228884540	+	Missense_Mutation	SNP	C	C	G			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr2:228884540C>G	ENST00000392056.3	-	7	1076	c.1030G>C	c.(1030-1032)Gct>Cct	p.A344P	SPHKAP_ENST00000344657.5_Missense_Mutation_p.A344P	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	344						cytoplasm	protein binding	p.A344P(2)		NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		GAGAAATAAGCATCTTTTGGA	0.423000													30	105					0	0	1	0	0
INTS6-AS1	100507398	broad.mit.edu	37	13	52034613	52034613	+	RNA	SNP	A	A	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr13:52034613A>T	ENST00000594959.1	+	0	411				INTS6-AS1_ENST00000593709.1_RNA|INTS6-AS1_ENST00000601034.1_RNA|INTS6-AS1_ENST00000595435.1_RNA|INTS6-AS1_ENST00000434512.1_RNA|INTS6-AS1_ENST00000597745.1_RNA|INTS6-AS1_ENST00000601318.1_RNA|INTS6-AS1_ENST00000595997.1_RNA|INTS6-AS1_ENST00000598864.1_RNA|INTS6-AS1_ENST00000596050.1_RNA|INTS6-AS1_ENST00000594488.1_RNA|INTS6-AS1_ENST00000593928.1_RNA|INTS6-AS1_ENST00000593672.1_RNA|INTS6-AS1_ENST00000601572.1_RNA|INTS6-AS1_ENST00000594358.1_RNA|INTS6-AS1_ENST00000599315.1_RNA|INTS6-AS1_ENST00000596180.1_RNA|INTS6-AS1_ENST00000593429.1_RNA|INTS6-AS1_ENST00000595424.1_RNA|RPS4XP16_ENST00000595905.1_RNA|INTS6-AS1_ENST00000602089.1_RNA|INTS6-AS1_ENST00000600477.1_RNA|INTS6-AS1_ENST00000594604.1_RNA|INTS6-AS1_ENST00000596303.1_RNA																							ttccaccatcattggaagctt	0.507000													2	2					0	0	1	0	0
MRGPRX1	259249	broad.mit.edu	37	11	18956125	18956125	+	Silent	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr11:18956125G>T	ENST00000302797.3	-	1	431	c.207C>A	c.(205-207)gcC>gcA	p.A69A	MRGPRX1_ENST00000526914.1_5'UTR	NM_147199.3	NP_671732.3	Q96LB2	MRGX1_HUMAN	MAS-related GPR, member X1	69					acute-phase response	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.A69A(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						AGTCTGCTGCGGCCAAGTTGA	0.532000													71	300					6.03386e-27	8.77512e-27	1	1	0
C14orf177	283598	broad.mit.edu	37	14	99182700	99182700	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr14:99182700C>A	ENST00000325812.2	+	3	591	c.172C>A	c.(172-174)Ctg>Atg	p.L58M		NM_182560.2	NP_872366.2	Q52M58	CN177_HUMAN	chromosome 14 open reading frame 177	58								p.L58M(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(10)	13		Melanoma(154;0.128)				GCAGCATGCCCTGACGCTCAC	0.473000													18	93					7.45023e-12	8.96844e-12	1	1	0
OR6N1	128372	broad.mit.edu	37	1	158736093	158736093	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr1:158736093C>T	ENST00000335094.2	-	1	399	c.380G>A	c.(379-381)tGc>tAc	p.C127Y		NM_001005185.1	NP_001005185.1	Q8NGY5	OR6N1_HUMAN	olfactory receptor, family 6, subfamily N, member 1	127					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.C127Y(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_hematologic(112;0.0378)					GAGGGGCCGGCAGATGGCTAA	0.522000													47	46					0	0	1	0	0
PCDHGA4	56111	broad.mit.edu	37	5	140736507	140736507	+	Silent	SNP	C	C	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr5:140736507C>T	ENST00000571252.1	+	1	1740	c.1740C>T	c.(1738-1740)cgC>cgT	p.R580R	PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018917.2	NP_061740.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGCACCCCGCTCCGCAGATT	0.587000													30	103					0	0	1	0	0
TRPM4	54795	broad.mit.edu	37	19	49691969	49691969	+	Silent	SNP	C	C	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr19:49691969C>T	ENST00000252826.5	+	13	1941	c.1815C>T	c.(1813-1815)gaC>gaT	p.D605D	TRPM4_ENST00000355712.5_Silent_p.D251D|TRPM4_ENST00000427978.2_Silent_p.D605D	NM_017636.3	NP_060106.2	Q8TD43	TRPM4_HUMAN	transient receptor potential cation channel, subfamily M, member 4	605					dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production	endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	ATP binding|calcium activated cation channel activity|calmodulin binding	p.D605D(1)		breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)		TGGAGCCTGACGCTGAGGAGG	0.642000													14	38					0	0	1	0	0
ZADH2	284273	broad.mit.edu	37	18	72920923	72920923	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr18:72920923G>T	ENST00000322342.3	-	1	380	c.91C>A	c.(91-93)Caa>Aaa	p.Q31K		NM_175907.4	NP_787103.1	Q8N4Q0	ZADH2_HUMAN	zinc binding alcohol dehydrogenase domain containing 2	31						peroxisome	oxidoreductase activity|zinc ion binding	p.Q31K(1)		endometrium(3)|large_intestine(3)|lung(8)|skin(1)	15		Esophageal squamous(42;0.131)|Prostate(75;0.155)		READ - Rectum adenocarcinoma(2;0.0276)|BRCA - Breast invasive adenocarcinoma(31;0.216)		TGCATGGCTTGGGGAATGGCG	0.716000													3	5					0.00024832	0.0002606	1	1	0
OR5F1	338674	broad.mit.edu	37	11	55761338	55761338	+	Missense_Mutation	SNP	C	C	G	rs58625186	byFrequency	TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr11:55761338C>G	ENST00000278409.1	-	1	763	c.764G>C	c.(763-765)tGc>tCc	p.C255S		NM_003697.1	NP_003688.1	O95221	OR5F1_HUMAN	olfactory receptor, family 5, subfamily F, member 1	255					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.C255S(1)		endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58	Esophageal squamous(21;0.00448)					AGTATAGATGCAGGTGGCATA	0.488000													85	127					0	0	1	0	0
TMEM214	54867	broad.mit.edu	37	2	27262916	27262916	+	Silent	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr2:27262916G>T	ENST00000238788.9	+	15	1703	c.1641G>T	c.(1639-1641)ctG>ctT	p.L547L	TMEM214_ENST00000404032.3_Silent_p.L502L	NM_017727.4	NP_060197.4	Q6NUQ4	TM214_HUMAN	transmembrane protein 214	547						integral to membrane	protein binding	p.L547L(1)		kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						GGGAGACACTGCCGCTCTGGG	0.627000													6	13					5.50884e-06	5.98968e-06	1	1	0
GLRX2	51022	broad.mit.edu	37	1	193066850	193066850	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr1:193066850G>T	ENST00000367440.3	-	3	702	c.227C>A	c.(226-228)aCa>aAa	p.T76K	GLRX2_ENST00000472197.1_5'UTR|GLRX2_ENST00000367439.3_Missense_Mutation_p.T75K	NM_001243399.1|NM_016066.4	NP_001230328.1|NP_057150.2	Q9NS18	GLRX2_HUMAN	glutaredoxin 2	75	Glutaredoxin.				apoptosis|cell differentiation|cell redox homeostasis|DNA protection|electron transport chain|glutathione metabolic process|protein thiol-disulfide exchange|regulation of signal transduction|regulation of transcription, DNA-dependent|response to hydrogen peroxide|response to organic substance|response to redox state|response to temperature stimulus|transport	mitochondrion|nucleus	2 iron, 2 sulfur cluster binding|arsenate reductase (glutaredoxin) activity|electron carrier activity|glutathione disulfide oxidoreductase activity|metal ion binding|protein disulfide oxidoreductase activity	p.T76K(1)		breast(1)|large_intestine(1)|lung(3)	5					Glutathione(DB00143)	AGAACAGGATGTTTTTGAGAA	0.313000													5	16					6.5536e-12	7.92239e-12	1	1	0
TCP11L1	55346	broad.mit.edu	37	11	33076262	33076262	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr11:33076262C>T	ENST00000334274.4	+	3	687	c.287C>T	c.(286-288)cCa>cTa	p.P96L	TCP11L1_ENST00000530171.1_Intron|TCP11L1_ENST00000531632.2_Missense_Mutation_p.P96L|TCP11L1_ENST00000432887.1_Missense_Mutation_p.P96L	NM_018393.3	NP_060863.3	Q9NUJ3	T11L1_HUMAN	t-complex 11, testis-specific-like 1	96								p.P96L(1)		kidney(1)|liver(2)|lung(2)|skin(1)	6						GTTGAATTACCAGAAAACAGG	0.373000													20	114					0	0	1	0	0
ZNF487	642819	broad.mit.edu	37	10	43971248	43971248	+	Missense_Mutation	SNP	C	C	G	rs11816311	by1000genomes	TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr10:43971248C>G	ENST00000431662.1	+	2	182	c.182C>G	c.(181-183)cCg>cGg	p.P61R	ZNF487_ENST00000437590.2_5'UTR																							CAGAGGACCCCGTACAGAGAC	0.468000													3	44					0	0	1	0	0
FER1L6	654463	broad.mit.edu	37	8	125015557	125015557	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr8:125015557C>A	ENST00000522917.1	+	13	1876	c.1670C>A	c.(1669-1671)cCg>cAg	p.P557Q	FER1L6-AS1_ENST00000518567.1_RNA|FER1L6_ENST00000399018.1_Missense_Mutation_p.P557Q	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	557						integral to membrane		p.P557Q(1)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			ACCACTCACCCGGAGAAGCCA	0.522000													50	87					3.69863e-55	6.5411e-55	1	1	0
CLPTM1	1209	broad.mit.edu	37	19	45495879	45495879	+	Silent	SNP	C	C	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr19:45495879C>T	ENST00000541297.2	+	14	2157	c.1692C>T	c.(1690-1692)ttC>ttT	p.F564F	CLPTM1_ENST00000546079.1_Silent_p.F476F|CLPTM1_ENST00000337392.5_Silent_p.F578F			O96005	CLPT1_HUMAN	cleft lip and palate associated transmembrane protein 1	578					cell differentiation|multicellular organismal development|regulation of T cell differentiation in thymus	external side of plasma membrane|integral to plasma membrane		p.F578F(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00354)|Epithelial(262;0.187)		ATGTGGTTTTCTTCATCTACC	0.647000													11	36					0	0	1	0	0
NHS	4810	broad.mit.edu	37	X	17746185	17746185	+	Missense_Mutation	SNP	T	T	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chrX:17746185T>A	ENST00000380060.3	+	6	4234	c.3896T>A	c.(3895-3897)gTg>gAg	p.V1299E	NHS_ENST00000398097.3_Missense_Mutation_p.V1143E	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	1299						nucleus		p.V1299E(1)|p.V1143E(1)		breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					CCTGAATCTGTGGATGTAATC	0.438000													67	89					0	0	1	0	0
ROBO4	54538	broad.mit.edu	37	11	124754802	124754802	+	Silent	SNP	A	A	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr11:124754802A>T	ENST00000306534.3	-	18	3494	c.3009T>A	c.(3007-3009)ccT>ccA	p.P1003P	ROBO4_ENST00000533054.1_Silent_p.P858P|RP11-664I21.5_ENST00000524453.1_RNA	NM_019055.5	NP_061928.4	Q8WZ75	ROBO4_HUMAN	roundabout, axon guidance receptor, homolog 4 (Drosophila)	1003					angiogenesis|cell differentiation	integral to membrane	receptor activity	p.P1003P(1)		NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		AGTAATCTACAGGAGAAGCTG	0.557000													18	58					0	0	1	0	0
LRRK1	79705	broad.mit.edu	37	15	101597252	101597252	+	Silent	SNP	G	G	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr15:101597252G>A	ENST00000284395.5	+	29	4915	c.4515G>A	c.(4513-4515)gaG>gaA	p.E1505E	RP11-505E24.2_ENST00000559857.1_RNA|LRRK1_ENST00000388948.3_Silent_p.E1508E			Q38SD2	LRRK1_HUMAN	leucine-rich repeat kinase 1	1508	Protein kinase.				small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.E1520E(1)|p.E1508E(1)		breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CTAAGCCAGAGAAGGTACTTG	0.647000													10	20					0	0	1	0	0
FRMPD2	143162	broad.mit.edu	37	10	49393636	49393636	+	Silent	SNP	A	A	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr10:49393636A>T	ENST00000374201.3	-	18	2621	c.2319T>A	c.(2317-2319)atT>atA	p.I773I	FRMPD2_ENST00000407470.4_Silent_p.I741I|FRMPD2_ENST00000305531.3_Silent_p.I748I	NM_001018071.3	NP_001018081.3	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2	773					tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding	p.I773I(1)		NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		TCACACGTACAATTTCTCGGC	0.498000													40	70					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152285860	152285860	+	Missense_Mutation	SNP	C	C	T	rs145828067		TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr1:152285860C>T	ENST00000368799.1	-	3	1537	c.1502G>A	c.(1501-1503)cGa>cAa	p.R501Q	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	501	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.R501Q(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGAGCTGTCTCGTGCCTGCTC	0.612000									Ichthyosis				10	300					0	0	1	0	0
SPDL1	54908	broad.mit.edu	37	5	169023609	169023609	+	Silent	SNP	A	A	G			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr5:169023609A>G	ENST00000265295.4	+	8	1215	c.936A>G	c.(934-936)gaA>gaG	p.E312E		NM_017785.4	NP_060255.3			spindle apparatus coiled-coil protein 1									p.E312E(1)									CTCAAACTGAATTTGAGCAGC	0.348000													26	89					0	0	1	0	0
PRKG2	5593	broad.mit.edu	37	4	82126159	82126159	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr4:82126159C>A	ENST00000395578.1	-	2	159	c.43G>T	c.(43-45)Gat>Tat	p.D15Y	PRKG2_ENST00000264399.1_Missense_Mutation_p.D15Y|PRKG2_ENST00000418486.2_Missense_Mutation_p.D15Y			Q13237	KGP2_HUMAN	protein kinase, cGMP-dependent, type II	15					platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity	p.D15Y(2)		NS(1)|breast(4)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	37						GAGTGTCCATCTGGGTGCTTA	0.502000													3	38					0.00909568	0.00927371	1	1	0
EPHA5	2044	broad.mit.edu	37	4	66356125	66356125	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr4:66356125C>A	ENST00000273854.3	-	5	1972	c.1372G>T	c.(1372-1374)Gtg>Ttg	p.V458L	EPHA5_ENST00000354839.4_Missense_Mutation_p.V458L|EPHA5_ENST00000511294.1_Missense_Mutation_p.V458L|EPHA5_ENST00000432638.2_Intron	NM_004439.5	NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	458	Fibronectin type-III 1.				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity	p.V458L(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						TTTACAGACACATACTGCCGG	0.478000										TSP Lung(17;0.13)			9	114					0.010729	0.0109196	1	1	0
QSOX2	169714	broad.mit.edu	37	9	139115958	139115958	+	Splice_Site	SNP	C	C	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr9:139115958C>T	ENST00000358701.5	-	4	516	c.478_splice	c.e4-1	p.G160_splice		NM_181701.3	NP_859052.3	Q6ZRP7	QSOX2_HUMAN	quiescin Q6 sulfhydryl oxidase 2	160	Thioredoxin.				cell redox homeostasis	extracellular region|integral to membrane|nuclear membrane|plasma membrane	thiol oxidase activity	p.G160E(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)	22		Myeloproliferative disorder(178;0.0511)		Epithelial(140;7.78e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.55e-07)		TCGGTCAGGTCCTGCCGGAAG	0.657000													11	21					0	0	1	0	0
LRFN2	57497	broad.mit.edu	37	6	40399650	40399650	+	Silent	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr6:40399650G>T	ENST00000338305.6	-	2	1745	c.1203C>A	c.(1201-1203)ggC>ggA	p.G401G		NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III domain containing 2	401						cell junction|integral to membrane|postsynaptic membrane		p.G401G(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					TCTTGCTGGAGCCAGTGATGT	0.657000													7	5					9.31168e-06	1.01053e-05	1	1	0
TRPM3	80036	broad.mit.edu	37	9	73235278	73235278	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr9:73235278C>T	ENST00000377110.2	-	15	2050	c.1807G>A	c.(1807-1809)Gat>Aat	p.D603N	TRPM3_ENST00000377105.1_Missense_Mutation_p.D462N|TRPM3_ENST00000377106.1_Missense_Mutation_p.D475N|TRPM3_ENST00000408909.2_Missense_Mutation_p.D462N|TRPM3_ENST00000396280.5_Missense_Mutation_p.D452N|TRPM3_ENST00000377111.2_Missense_Mutation_p.D603N|TRPM3_ENST00000396285.1_Missense_Mutation_p.D450N|TRPM3_ENST00000358082.3_Missense_Mutation_p.D465N|TRPM3_ENST00000357533.2_Missense_Mutation_p.D607N|TRPM3_ENST00000396292.4_Missense_Mutation_p.D475N|TRPM3_ENST00000423814.3_Missense_Mutation_p.D630N|TRPM3_ENST00000360823.2_Missense_Mutation_p.D465N	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	628						integral to membrane	calcium channel activity	p.D607N(1)|p.D603N(1)|p.D475N(1)		NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						AAGGGAATATCATCCTGTAAT	0.438000													59	316					0	0	1	0	0
ALK	238	broad.mit.edu	37	2	30143102	30143102	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr2:30143102C>A	ENST00000389048.3	-	1	1330	c.424G>T	c.(424-426)Gtg>Ttg	p.V142L	ALK_ENST00000431873.1_Missense_Mutation_p.V142L	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	142					protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	p.V142L(1)	ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	AGCTCCAGCACCAACTGCTTG	0.701000			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				3	3					0.115264	0.115668	1	1	0
MIR517C	574492	broad.mit.edu	37	19	54244639	54244639	+	RNA	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr19:54244639G>T	ENST00000385103.1	+	0	73					NR_030214.1																						CATCCTTTTAGAGTGTTACTG	0.428000													41	123					3.7052e-28	5.4438e-28	1	1	0
OLAH	55301	broad.mit.edu	37	10	15106469	15106469	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr10:15106469C>A	ENST00000378217.3	+	6	716	c.529C>A	c.(529-531)Cat>Aat	p.H177N	OLAH_ENST00000378228.3_Missense_Mutation_p.H124N	NM_018324.2	NP_060794.1	Q9NV23	SAST_HUMAN	oleoyl-ACP hydrolase	124					fatty acid biosynthetic process		myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity	p.H177N(1)		endometrium(2)|large_intestine(1)|lung(14)|stomach(1)	18						AGAACCATTGCATTTATTTTT	0.373000													24	79					1.13719e-10	1.34076e-10	1	1	0
METTL18	92342	broad.mit.edu	37	1	169762027	169762027	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr1:169762027C>A	ENST00000310392.4	-	2	1163	c.810G>T	c.(808-810)tgG>tgT	p.W270C	METTL18_ENST00000303469.2_Missense_Mutation_p.W270C|C1orf112_ENST00000498289.1_Intron	NM_033418.2	NP_219486.1	O95568	MET18_HUMAN	methyltransferase like 18	270						cytoplasm	protein methyltransferase activity	p.W270C(1)		kidney(1)|large_intestine(3)|lung(4)	8						AAAACTCAGACCACTCACCAG	0.328000													41	45					8.69298e-16	1.09715e-15	1	1	0
GNE	10020	broad.mit.edu	37	9	36246104	36246104	+	Silent	SNP	C	C	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr9:36246104C>T	ENST00000396594.3	-	3	744	c.633G>A	c.(631-633)ttG>ttA	p.L211L	GNE_ENST00000377902.5_Silent_p.L180L|GNE_ENST00000539815.1_Silent_p.L180L|GNE_ENST00000543356.2_Silent_p.L175L|GNE_ENST00000539208.1_Silent_p.L121L|GNE_ENST00000447283.2_Silent_p.L180L	NM_001128227.2	NP_001121699.1	Q9Y223	GLCNE_HUMAN	glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase	180					cell adhesion|lipopolysaccharide biosynthetic process|N-acetylneuraminate metabolic process|UDP-N-acetylglucosamine metabolic process		ATP binding|N-acylmannosamine kinase activity|UDP-N-acetylglucosamine 2-epimerase activity	p.L180L(1)|p.L211L(1)|p.L175L(1)		endometrium(8)|kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			STAD - Stomach adenocarcinoma(86;0.228)			GGCAGCCTGCCAAAAGGATGC	0.483000													5	136					0	0	1	0	0
ZXDB	158586	broad.mit.edu	37	X	57620678	57620678	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chrX:57620678G>T	ENST00000374888.1	+	1	2410	c.2197G>T	c.(2197-2199)Gac>Tac	p.D733Y		NM_007157.3	NP_009088.1	P98169	ZXDB_HUMAN	zinc finger, X-linked, duplicated B	733					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	p.D733Y(1)		NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(2)|skin(6)	27						GCTAACAGTGGACACAGATGC	0.502000													22	17					7.38237e-10	8.59776e-10	1	1	0
ETAA1	54465	broad.mit.edu	37	2	67630052	67630052	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr2:67630052C>T	ENST00000272342.5	+	4	618	c.488C>T	c.(487-489)cCt>cTt	p.P163L	ETAA1_ENST00000462772.1_3'UTR	NM_019002.3	NP_061875.2	Q9NY74	ETAA1_HUMAN	Ewing tumor-associated antigen 1	163						cytoplasm|nucleus		p.P163L(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	33						ACTGCTATTCCTTGTACTCCC	0.368000													40	69					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82585203	82585203	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr7:82585203G>T	ENST00000423517.2	-	5	5403	c.5066C>A	c.(5065-5067)aCa>aAa	p.T1689K	PCLO_ENST00000333891.8_Missense_Mutation_p.T1689K	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	1620					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	p.T1689K(2)|p.T1689fs*6(1)|p.T1620fs*6(1)|p.T1620K(1)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						ATACAAACTTGTTTTTTTCTG	0.428000													15	22					2.5808e-16	3.28621e-16	1	1	0
DISP1	84976	broad.mit.edu	37	1	223177391	223177391	+	Silent	SNP	G	G	A	rs138904556	by1000genomes	TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr1:223177391G>A	ENST00000284476.6	+	8	2816	c.2652G>A	c.(2650-2652)gaG>gaA	p.E884E		NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	884					diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity	p.E884E(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		ACAAGCAAGAGATTTTTGAAC	0.488000													13	51					0	0	1	0	0
SLC8A1	6546	broad.mit.edu	37	2	40656621	40656621	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr2:40656621C>A	ENST00000406785.1	-	2	989	c.800G>T	c.(799-801)cGa>cTa	p.R267L	SLC8A1_ENST00000542756.1_Missense_Mutation_p.R267L|SLC8A1_ENST00000542024.1_Missense_Mutation_p.R267L|SLC8A1_ENST00000408028.2_Missense_Mutation_p.R267L|SLC8A1_ENST00000406391.2_Missense_Mutation_p.R267L|SLC8A1_ENST00000405901.3_Missense_Mutation_p.R267L|SLC8A1_ENST00000405269.1_Missense_Mutation_p.R267L|SLC8A1_ENST00000403092.1_Missense_Mutation_p.R267L|SLC8A1_ENST00000402441.1_Missense_Mutation_p.R267L|SLC8A1_ENST00000332839.4_Missense_Mutation_p.R267L			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	267	Calmodulin-binding (Potential).				cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding	p.R267L(2)		NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	CTTGCCAGCTCGATACCTCTT	0.433000													76	181					8.92586e-32	1.36024e-31	1	1	0
CLNK	116449	broad.mit.edu	37	4	10566369	10566369	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr4:10566369G>T	ENST00000226951.6	-	7	564	c.325C>A	c.(325-327)Ccc>Acc	p.P109T	CLNK_ENST00000442825.2_Missense_Mutation_p.P67T|CLNK_ENST00000507719.1_Missense_Mutation_p.P67T	NM_052964.2	NP_443196.2	Q7Z7G1	CLNK_HUMAN	cytokine-dependent hematopoietic cell linker	109					immune response|intracellular signal transduction	intracellular	SH3/SH2 adaptor activity	p.P109T(2)		NS(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(1)	17						AACGGAAGGGGAGTGTCCATT	0.428000													27	116					3.69857e-22	5.19431e-22	1	1	0
SECTM1	6398	broad.mit.edu	37	17	80280050	80280050	+	Missense_Mutation	SNP	G	G	C			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr17:80280050G>C	ENST00000269389.3	-	5	1084	c.734C>G	c.(733-735)gCc>gGc	p.A245G	SECTM1_ENST00000580437.1_3'UTR	NM_003004.2	NP_002995.1	Q8WVN6	SCTM1_HUMAN	secreted and transmembrane 1	245					immune response|mesoderm development|positive regulation of I-kappaB kinase/NF-kappaB cascade	extracellular space|Golgi apparatus|integral to membrane|plasma membrane	cytokine activity|signal transducer activity	p.A245G(1)		endometrium(1)|large_intestine(2)|lung(1)	4	Breast(20;0.000675)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.249)		OV - Ovarian serous cystadenocarcinoma(97;0.00928)|BRCA - Breast invasive adenocarcinoma(99;0.0833)			TGGGTCTGCGGCATATGGAAA	0.657000													6	2					0	0	1	0	0
ARMC3	219681	broad.mit.edu	37	10	23257283	23257283	+	Translation_Start_Site	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr10:23257283C>A	ENST00000376528.4	+	0	323				ARMC3_ENST00000409049.3_Missense_Mutation_p.L261I|ARMC3_ENST00000298032.5_Missense_Mutation_p.L261I|ARMC3_ENST00000409983.3_Missense_Mutation_p.L261I			Q5W041	ARMC3_HUMAN	armadillo repeat containing 3								binding	p.L261I(1)		breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						AGCCAATTGCCTTGAAGACAT	0.358000													109	225					4.30233e-46	7.27209e-46	1	1	0
LRFN2	57497	broad.mit.edu	37	6	40360626	40360626	+	Missense_Mutation	SNP	A	A	C			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr6:40360626A>C	ENST00000338305.6	-	3	1968	c.1426T>G	c.(1426-1428)Ttc>Gtc	p.F476V		NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III domain containing 2	476	Fibronectin type-III.					cell junction|integral to membrane|postsynaptic membrane		p.F476V(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					TTGACCACGAAGGCCTTGTTG	0.597000													16	24					0	0	1	0	0
CT47B1	643311	broad.mit.edu	37	X	120008777	120008777	+	Missense_Mutation	SNP	T	T	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chrX:120008777T>A	ENST00000371311.3	-	1	1002	c.748A>T	c.(748-750)Acc>Tcc	p.T250S		NM_001145718.1	NP_001139190.1	P0C2W7	CT47B_HUMAN	cancer/testis antigen family 47, member B1	250								p.T250S(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|lung(9)|ovary(1)|skin(1)	22						TCCTCTGAGGTCGGTTCCTCT	0.697000													17	8					0	0	1	0	0
LOC440040	440040	broad.mit.edu	37	11	49830150	49830150	+	RNA	SNP	C	C	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr11:49830150C>T	ENST00000527477.1	+	0	1481																											GTGCAGGGCCCATCACTGGAC	0.483000													10	16					0	0	1	0	0
DIP2A	23181	broad.mit.edu	37	21	47978160	47978160	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr21:47978160G>T	ENST00000318711.7	+	32	4009	c.3826G>T	c.(3826-3828)Gtg>Ttg	p.V1276L	DIP2A_ENST00000417564.2_Missense_Mutation_p.V1275L|DIP2A_ENST00000400274.1_Missense_Mutation_p.V1271L	NM_001146116.1|NM_015151.3	NP_001139588.1|NP_055966.2	Q14689	DIP2A_HUMAN	DIP2 disco-interacting protein 2 homolog A (Drosophila)	1275					multicellular organismal development	nucleus	catalytic activity|transcription factor binding	p.V1275L(1)|p.V1276L(1)		cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		CCTGTCATGTGTGCGCACGTG	0.657000													6	12					8.12818e-05	8.64091e-05	1	1	0
PIK3C2B	5287	broad.mit.edu	37	1	204394057	204394057	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr1:204394057G>A	ENST00000367187.3	-	34	5384	c.4828C>T	c.(4828-4830)Cgc>Tgc	p.R1610C	RP11-739N20.2_ENST00000443515.1_RNA|PIK3C2B_ENST00000424712.2_Missense_Mutation_p.R1582C	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	1610					cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding	p.R1610C(1)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			TCTCGCAGGCGGATGTTCACC	0.637000													30	33					0	0	1	0	0
TENM2	57451	broad.mit.edu	37	5	167645863	167645863	+	Missense_Mutation	SNP	T	T	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr5:167645863T>A	ENST00000519204.1	+	22	4722	c.4604T>A	c.(4603-4605)aTc>aAc	p.I1535N	TENM2_ENST00000403607.2_Missense_Mutation_p.I1480N|TENM2_ENST00000518659.1_Missense_Mutation_p.I1656N|TENM2_ENST00000520394.1_Missense_Mutation_p.I1417N|TENM2_ENST00000545108.1_Missense_Mutation_p.I1655N					teneurin transmembrane protein 2									p.I1489N(1)|p.I1535N(1)|p.I1656N(1)									GACAACCAGATCATCACCCTC	0.532000													153	496					0	0	1	0	0
ZNF519	162655	broad.mit.edu	37	18	14105896	14105896	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr18:14105896C>A	ENST00000590202.1	-	3	795	c.643G>T	c.(643-645)Ggt>Tgt	p.G215C	ZNF519_ENST00000589498.1_Intron|ZNF519_ENST00000589203.1_Intron	NM_145287.3	NP_660330.2	Q8TB69	ZN519_HUMAN	zinc finger protein 519	215					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G215C(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1)	18						GAAGTTTCACCACATTCATTA	0.299000													38	86					3.37043e-27	4.91414e-27	1	1	0
NR1H4	9971	broad.mit.edu	37	12	100926373	100926373	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr12:100926373G>A	ENST00000548884.1	+	5	1124	c.583G>A	c.(583-585)Gaa>Aaa	p.E195K	NR1H4_ENST00000549996.1_Intron|NR1H4_ENST00000551379.1_Missense_Mutation_p.E205K|NR1H4_ENST00000392986.3_Missense_Mutation_p.E195K|NR1H4_ENST00000188403.7_Missense_Mutation_p.E205K	NM_001206977.1|NM_001206979.1|NM_005123.3	NP_001193906.1|NP_001193908.1|NP_005114.1	Q96RI1	NR1H4_HUMAN	nuclear receptor subfamily 1, group H, member 4	205					bile acid metabolic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding	p.E195K(1)|p.E205K(1)		NS(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	44						AATGTTGGCTGAATGTATGTA	0.408000													7	259					0	0	1	0	0
ZNF610	162963	broad.mit.edu	37	19	52869019	52869019	+	Nonsense_Mutation	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr19:52869019G>T	ENST00000601151.1	+	5	711	c.259G>T	c.(259-261)Gag>Tag	p.E87*	ZNF610_ENST00000403906.3_Nonsense_Mutation_p.E130*|ZNF610_ENST00000321287.8_Nonsense_Mutation_p.E130*|ZNF610_ENST00000327920.8_Nonsense_Mutation_p.E130*	NM_001161427.1	NP_001154899.1	Q8N9Z0	ZN610_HUMAN	zinc finger protein 610	130	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E130*(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(8)|liver(2)|lung(9)|ovary(2)|stomach(2)|upper_aerodigestive_tract(2)	34				OV - Ovarian serous cystadenocarcinoma(262;0.00396)|GBM - Glioblastoma multiforme(134;0.00434)		ATTAACCCTTGAGGCACATCT	0.398000													77	134					3.11363e-52	5.37383e-52	1	1	0
LCE2C	353140	broad.mit.edu	37	1	152648744	152648744	+	Silent	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr1:152648744C>A	ENST00000368783.1	+	2	308	c.253C>A	c.(253-255)Cgg>Agg	p.R85R	LCE2B_ENST00000417924.2_Intron	NM_178429.2	NP_848516.1	Q5TA81	LCE2C_HUMAN	late cornified envelope 2C	85	Cys-rich.				keratinization			p.R85W(2)|p.R85R(1)		endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)	13	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCACCGGCGCCGGCACCAGAG	0.682000													11	12					4.96729e-08	5.63615e-08	1	1	0
CPXCR1	53336	broad.mit.edu	37	X	88009116	88009116	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chrX:88009116G>T	ENST00000276127.4	+	3	960	c.701G>T	c.(700-702)aGg>aTg	p.R234M	CPXCR1_ENST00000373111.1_Missense_Mutation_p.R234M	NM_033048.5	NP_149037.4	Q8N123	CPXCR_HUMAN	CPX chromosome region, candidate 1	234						intracellular	zinc ion binding	p.R234I(1)		NS(1)|cervix(1)|kidney(1)|large_intestine(11)|liver(1)|lung(20)|ovary(3)|upper_aerodigestive_tract(2)	40						GCTATTGTGAGGTCTGTGCTC	0.363000													22	28					1.38267e-23	1.95622e-23	1	1	0
FTSJ1	24140	broad.mit.edu	37	X	48340805	48340805	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chrX:48340805C>A	ENST00000019019.2	+	11	1093	c.664C>A	c.(664-666)Cag>Aag	p.Q222K	FTSJ1_ENST00000348411.2_Missense_Mutation_p.Q224K|FTSJ1_ENST00000396894.4_Missense_Mutation_p.Q87K|FTSJ1_ENST00000456787.1_Missense_Mutation_p.Q222K|FTSJ1_ENST00000496365.1_3'UTR	NM_177439.1	NP_803188.1	Q9UET6	RRMJ1_HUMAN	FtsJ RNA methyltransferase homolog 1 (E. coli)	224					RNA methylation|rRNA processing		methyltransferase activity|nucleic acid binding	p.Q224K(1)		breast(1)|central_nervous_system(1)|lung(4)|skin(1)	7						AGATTTCAACCAGCTGGATGG	0.582000													6	45					8.12818e-05	8.64091e-05	1	1	0
MEOX2	4223	broad.mit.edu	37	7	15652213	15652213	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr7:15652213C>A	ENST00000262041.5	-	3	1123	c.714G>T	c.(712-714)agG>agT	p.R238S		NM_005924.4	NP_005915.2	P50222	MEOX2_HUMAN	mesenchyme homeobox 2	238					blood circulation|multicellular organismal development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.R238S(1)		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)		ACTTCATCCGCCTGTTTTGGA	0.438000													19	93					7.45023e-12	8.96844e-12	1	1	0
NCOR1P1	149934	broad.mit.edu	37	20	26084304	26084304	+	RNA	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr20:26084304G>T	ENST00000478176.1	-	0	153					NR_003678.1													p.P38T(1)									CCAAATGCTGGATCCTTTAGA	0.393000													15	100					2.48551e-13	3.07601e-13	1	1	0
TMEM132D	121256	broad.mit.edu	37	12	130185209	130185209	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr12:130185209C>A	ENST00000422113.2	-	2	440	c.114G>T	c.(112-114)caG>caT	p.Q38H		NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	38						integral to membrane		p.Q38H(1)		NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		AGGAAAACCTCTGGATGCTCT	0.542000													36	26					3.4597e-24	4.94366e-24	1	1	0
MAGEE2	139599	broad.mit.edu	37	X	75003586	75003586	+	Missense_Mutation	SNP	A	A	G			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chrX:75003586A>G	ENST00000373359.2	-	1	1493	c.1301T>C	c.(1300-1302)gTa>gCa	p.V434A		NM_138703.4	NP_619648.1	Q8TD90	MAGE2_HUMAN	melanoma antigen family E, 2	434	MAGE 2.							p.V434A(1)		autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CTTTCTCCCTACATCCACACT	0.453000													11	231					0	0	1	0	0
ADCY8	114	broad.mit.edu	37	8	131795974	131795974	+	Silent	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr8:131795974G>T	ENST00000286355.5	-	17	5323	c.3231C>A	c.(3229-3231)atC>atA	p.I1077I	ADCY8_ENST00000377928.3_Silent_p.I946I	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	1077					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding	p.I1077I(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			AATGCTTGTTGATCTCCTGTA	0.502000										HNSCC(32;0.087)			90	168					5.30932e-60	9.47739e-60	1	1	0
CPXCR1	53336	broad.mit.edu	37	X	88009117	88009117	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chrX:88009117G>T	ENST00000276127.4	+	3	961	c.702G>T	c.(700-702)agG>agT	p.R234S	CPXCR1_ENST00000373111.1_Missense_Mutation_p.R234S	NM_033048.5	NP_149037.4	Q8N123	CPXCR_HUMAN	CPX chromosome region, candidate 1	234						intracellular	zinc ion binding	p.R234I(1)		NS(1)|cervix(1)|kidney(1)|large_intestine(11)|liver(1)|lung(20)|ovary(3)|upper_aerodigestive_tract(2)	40						CTATTGTGAGGTCTGTGCTCT	0.363000													22	27					1.38267e-23	1.95622e-23	1	1	0
MAGI2	9863	broad.mit.edu	37	7	78131003	78131003	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr7:78131003G>T	ENST00000354212.4	-	5	1109	c.856C>A	c.(856-858)Cag>Aag	p.Q286K	MAGI2_ENST00000522391.1_Missense_Mutation_p.Q286K|MAGI2_ENST00000535697.1_Missense_Mutation_p.Q123K|MAGI2_ENST00000419488.1_Missense_Mutation_p.Q286K|MAGI2_ENST00000536571.1_Missense_Mutation_p.Q118K	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	286						cell junction|synapse|synaptosome	phosphatase binding	p.Q286K(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				TCATCCATCTGCTCCTTCAGC	0.507000													25	101					1.88708e-17	2.4631e-17	1	1	0
PPP2R5B	5526	broad.mit.edu	37	11	64699039	64699039	+	Silent	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr11:64699039G>T	ENST00000164133.2	+	10	1576	c.954G>T	c.(952-954)cgG>cgT	p.R318R		NM_006244.3	NP_006235.1	Q15173	2A5B_HUMAN	protein phosphatase 2, regulatory subunit B', beta	318					signal transduction	cytoplasm|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity	p.R318R(1)		central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(2)	21						AGGTGATCCGGGGGCTGCTCA	0.597000													8	12					0.000978159	0.00101906	1	1	0
SHC2	25759	broad.mit.edu	37	19	436212	436212	+	Silent	SNP	G	G	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr19:436212G>A	ENST00000264554.6	-	7	905	c.906C>T	c.(904-906)ttC>ttT	p.F302F		NM_012435.2	NP_036567.2	P98077	SHC2_HUMAN	SHC (Src homology 2 domain containing) transforming protein 2	302	PID.				insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol				endometrium(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	21		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGTACTGCTTGAAGCGCAGCT	0.657000													4	4					0	0	1	0	0
CHAT	1103	broad.mit.edu	37	10	50870742	50870742	+	Missense_Mutation	SNP	G	G	C			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr10:50870742G>C	ENST00000395562.2	+	15	2114	c.1645G>C	c.(1645-1647)Gcc>Ccc	p.A549P	CHAT_ENST00000455728.2_Missense_Mutation_p.A513P|CHAT_ENST00000351556.3_Missense_Mutation_p.A513P|CHAT_ENST00000339797.1_Missense_Mutation_p.A513P|CHAT_ENST00000337653.2_Missense_Mutation_p.A631P|CHAT_ENST00000395559.2_Missense_Mutation_p.A513P	NM_001142933.1|NM_001142934.1	NP_001136405.1|NP_001136406.1	P28329	CLAT_HUMAN	choline O-acetyltransferase	631					neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity	p.A631P(1)		central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)	GCGGGAGCTGGCCCGGGCCAT	0.587000													76	95					0	0	1	0	0
SIGLECL1	284369	broad.mit.edu	37	19	51770634	51770634	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr19:51770634C>A	ENST00000316401.7	+	5	799	c.418C>A	c.(418-420)Cat>Aat	p.H140N	SIGLECL1_ENST00000593968.1_3'UTR|SIGLECL1_ENST00000597824.1_Missense_Mutation_p.H46N|CTD-3187F8.2_ENST00000597569.1_RNA	NM_173635.1	NP_775906.1			SIGLEC family like 1									p.H140N(1)									TAGAGTGAAACATATCAGAAA	0.453000													81	244					1.36798e-35	2.20183e-35	1	1	0
BRD4	23476	broad.mit.edu	37	19	15365073	15365073	+	Splice_Site	SNP	G	G	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr19:15365073G>A	ENST00000263377.2	-	11	2269	c.2047_splice	c.e11-1	p.A683_splice	BRD4_ENST00000360016.5_Splice_Site_p.A683_splice|BRD4_ENST00000371835.4_Splice_Site_p.A683_splice	NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	bromodomain containing 4	683					interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle	condensed nuclear chromosome|cytoplasm	protein binding	p.A683V(2)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			AACTTTCTCAGCTGCAATCCA	0.582000			T	C15orf55	lethal midline carcinoma of young people								23	9					0	0	1	0	0
VAV3	10451	broad.mit.edu	37	1	108315358	108315358	+	Splice_Site	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr1:108315358G>T	ENST00000370056.4	-	5	828	c.555_splice	c.e5+1	p.P185_splice	VAV3_ENST00000343258.4_5'UTR|VAV3_ENST00000527011.1_Splice_Site_p.P185_splice|VAV3_ENST00000371846.4_Splice_Site_p.P120_splice	NM_006113.4	NP_006104.4	Q9UKW4	VAV3_HUMAN	vav 3 guanine nucleotide exchange factor	185					angiogenesis|apoptosis|B cell receptor signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of B cell proliferation|regulation of Rho protein signal transduction|response to DNA damage stimulus|response to drug|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity	p.P185H(1)		NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1)	58		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)		AAGTCCTACGGGCTGATGTGC	0.348000													62	23					6.20203e-27	8.99687e-27	1	1	0
PPP1R3A	5506	broad.mit.edu	37	7	113518041	113518041	+	Nonsense_Mutation	SNP	G	G	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr7:113518041G>A	ENST00000284601.3	-	4	3174	c.3106C>T	c.(3106-3108)Caa>Taa	p.Q1036*		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	1036					glycogen metabolic process	integral to membrane		p.Q1036*(1)		NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						TATAGTGATTGCCCAGAGCTT	0.398000													215	310					0	0	1	0	0
SACS	26278	broad.mit.edu	37	13	23909782	23909782	+	Nonsense_Mutation	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr13:23909782C>A	ENST00000382298.3	-	10	8821	c.8233G>T	c.(8233-8235)Gaa>Taa	p.E2745*	SACS_ENST00000402364.1_Nonsense_Mutation_p.E1995*|SACS_ENST00000382292.3_Nonsense_Mutation_p.E2745*	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	2745					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.E2598*(1)|p.E2745*(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)		GAAATTTTTTCCATGTGATTA	0.383000													26	44					8.24728e-16	1.0432e-15	1	1	0
NBN	4683	broad.mit.edu	37	8	90982638	90982638	+	Missense_Mutation	SNP	C	C	G			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr8:90982638C>G	ENST00000265433.3	-	7	1004	c.850G>C	c.(850-852)Gac>Cac	p.D284H	NBN_ENST00000409330.1_Missense_Mutation_p.D202H	NM_002485.4	NP_002476.2	O60934	NBN_HUMAN	nibrin	284					cell cycle arrest|DNA damage response, signal transduction by p53 class mediator|DNA duplex unwinding|double-strand break repair via homologous recombination|meiosis|mitotic cell cycle G1/S transition checkpoint|mitotic cell cycle G2/M transition DNA damage checkpoint|positive regulation of kinase activity|positive regulation of protein autophosphorylation|regulation of DNA-dependent DNA replication initiation|telomere maintenance	Mre11 complex|nuclear chromosome, telomeric region|nuclear inclusion body|nucleolus|nucleoplasm	protein N-terminus binding|transcription factor binding	p.D284H(1)		autonomic_ganglia(1)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27			BRCA - Breast invasive adenocarcinoma(11;0.0344)			TTCTGACAGTCAGGAATTAAG	0.333000								Homologous recombination					44	99					0	0	1	0	0
ANLN	54443	broad.mit.edu	37	7	36462361	36462361	+	Missense_Mutation	SNP	T	T	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr7:36462361T>A	ENST00000265748.2	+	14	2640	c.2419T>A	c.(2419-2421)Tca>Aca	p.S807T	ANLN_ENST00000396068.2_Missense_Mutation_p.S770T	NM_018685.2	NP_061155.2	Q9NQW6	ANLN_HUMAN	anillin, actin binding protein	807	Localization to the cleavage furrow.				cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly	actomyosin contractile ring|nucleus	actin binding	p.S807T(1)		breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2)	45						AGTTACTTTGTCAGAAATCCG	0.388000													30	153					0	0	1	0	0
IFIH1	64135	broad.mit.edu	37	2	163133431	163133431	+	Silent	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr2:163133431C>A	ENST00000263642.2	-	11	2465	c.2070G>T	c.(2068-2070)ctG>ctT	p.L690L		NM_022168.3	NP_071451.2	Q9BYX4	IFIH1_HUMAN	interferon induced with helicase C domain 1	690					detection of virus|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|regulation of apoptosis	cytosol|nucleus	ATP binding|DNA binding|double-stranded RNA binding|helicase activity|protein binding|ribonucleoprotein binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	39						GGTTTTCAGCCAGCCTTTTCA	0.323000													29	78					2.68265e-12	3.26361e-12	1	1	0
MXD4	10608	broad.mit.edu	37	4	2254171	2254171	+	Silent	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr4:2254171C>A	ENST00000337190.2	-	4	586	c.273G>T	c.(271-273)acG>acT	p.T91T		NM_006454.2	NP_006445.1	Q14582	MAD4_HUMAN	MAX dimerization protein 4	91	Helix-loop-helix motif.				negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|transcription corepressor activity	p.T91T(1)		breast(1)|endometrium(1)|kidney(1)|lung(3)	6						GGAGGCTCAGCGTGGTGTGGC	0.637000													3	6					0.0215528	0.0218193	1	1	0
PER2	8864	broad.mit.edu	37	2	239157728	239157728	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr2:239157728C>A	ENST00000254657.3	-	22	3872	c.3593G>T	c.(3592-3594)gGc>gTc	p.G1198V	PER2_ENST00000254658.3_3'UTR|AC096574.4_ENST00000456601.1_RNA	NM_022817.2	NP_073728.1	O15055	PER2_HUMAN	period circadian clock 2	1198	CRY binding domain (By similarity).				circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|signal transducer activity	p.G1198F(1)		NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)		TGCGGGCAGGCCGCCCGTCTG	0.572000													18	57					2.19962e-31	3.33435e-31	1	1	0
DACH1	1602	broad.mit.edu	37	13	72255996	72255996	+	Missense_Mutation	SNP	G	G	C			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr13:72255996G>C	ENST00000305425.4	-	2	1323	c.901C>G	c.(901-903)Cca>Gca	p.P301A	DACH1_ENST00000313174.7_Missense_Mutation_p.P301A|DACH1_ENST00000359684.2_Missense_Mutation_p.P301A|DACH1_ENST00000354591.4_Missense_Mutation_p.P301A	NM_080759.4	NP_542937.2	Q9UI36	DACH1_HUMAN	dachshund homolog 1 (Drosophila)	299	Interaction with SIX6 and HDAC3 (By similarity).				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|nucleotide binding|protein binding	p.P301A(1)		NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		GAGTTCTCTGGGGAGGTGACA	0.418000													57	41					0	0	1	0	0
TRBV7-1	28597	broad.mit.edu	37	7	142032526	142032526	+	RNA	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr7:142032526G>T	ENST00000547918.2	+	0	379																											CAGCAGCTCAGCCACAGCACT	0.512000													20	35					3.5997e-14	4.49374e-14	1	1	0
LRRIQ1	84125	broad.mit.edu	37	12	85546113	85546113	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr12:85546113C>T	ENST00000393217.2	+	20	4446	c.4385C>T	c.(4384-4386)aCa>aTa	p.T1462I		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	1462								p.T1462I(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		CCTTCACAAACACTGCTTCTT	0.393000													40	95					0	0	1	0	0
KMT2C	58508	broad.mit.edu	37	7	151919678	151919678	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr7:151919678G>T	ENST00000355193.2	-	21	3631	c.3413C>A	c.(3412-3414)cCc>cAc	p.P1138H	KMT2C_ENST00000262189.6_Missense_Mutation_p.P1138H					lysine (K)-specific methyltransferase 2C									p.P1138H(2)									AGGCATATAGGGTCTGCACAT	0.398000													16	62					3.41278e-10	3.99087e-10	1	1	0
MYL4	4635	broad.mit.edu	37	17	45299121	45299121	+	Silent	SNP	G	G	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr17:45299121G>A	ENST00000354968.1	+	5	515	c.387G>A	c.(385-387)caG>caA	p.Q129Q	MYL4_ENST00000572316.1_Silent_p.Q129Q|MYL4_ENST00000393450.1_Silent_p.Q129Q	NM_001002841.1	NP_001002841.1	P12829	MYL4_HUMAN	myosin, light chain 4, alkali; atrial, embryonic	129					cardiac muscle contraction|muscle filament sliding|muscle organ development|positive regulation of ATPase activity|regulation of the force of heart contraction	A band|cytosol|muscle myosin complex	actin filament binding|actin monomer binding|calcium ion binding|myosin II heavy chain binding|structural constituent of muscle	p.Q129Q(1)		endometrium(2)|large_intestine(1)|lung(4)|ovary(3)|prostate(1)	11						ACAAGGAGCAGGGCACCTATG	0.557000													5	126					0	0	1	0	0
CACNA2D1	781	broad.mit.edu	37	7	81964549	81964549	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr7:81964549C>A	ENST00000356860.3	-	3	534	c.196G>T	c.(196-198)Gat>Tat	p.D66Y	CACNA2D1_ENST00000423588.1_Missense_Mutation_p.D66Y|CACNA2D1_ENST00000356253.5_Missense_Mutation_p.D66Y	NM_000722.2	NP_000713.2	P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	66						voltage-gated calcium channel complex	metal ion binding	p.D66Y(1)		breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)	GTATACAAATCTTGATATTTC	0.353000													16	97					0.000229342	0.000241568	1	1	0
SLC26A8	116369	broad.mit.edu	37	6	35918953	35918953	+	Nonsense_Mutation	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr6:35918953G>T	ENST00000490799.1	-	19	2812	c.2459C>A	c.(2458-2460)tCa>tAa	p.S820*	SLC26A8_ENST00000355574.2_Nonsense_Mutation_p.S820*|SLC26A8_ENST00000394602.2_Nonsense_Mutation_p.S715*	NM_052961.3	NP_443193.1	Q96RN1	S26A8_HUMAN	solute carrier family 26 (anion exchanger), member 8	820	Interaction with RACGAP1.				cell differentiation|meiosis|multicellular organismal development|spermatogenesis	integral to membrane|plasma membrane	anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity	p.S820*(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						GTCTGTTTCTGAGTAGGTTTC	0.552000													92	97					1.9643e-79	3.58453e-79	1	1	0
SRRM2	23524	broad.mit.edu	37	16	2815970	2815970	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr16:2815970G>T	ENST00000301740.8	+	11	5990	c.5441G>T	c.(5440-5442)cGg>cTg	p.R1814L		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	1814	Arg-rich.|Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding	p.R1814L(1)		breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						ACTCGGCGGCGGAGGGGAGGC	0.617000													4	8					1	1	1	1	0
OR56A4	120793	broad.mit.edu	37	11	6023494	6023494	+	Silent	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr11:6023494C>A	ENST00000330728.4	-	1	930	c.885G>T	c.(883-885)acG>acT	p.T295T		NM_001005179.2	NP_001005179.2	Q8NGH8	O56A4_HUMAN	olfactory receptor, family 56, subfamily A, member 4	243					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T295T(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	32		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGGAACCACACGTGCTCAAGG	0.488000													34	54					1.62957e-23	2.29986e-23	1	1	0
OR5AP2	338675	broad.mit.edu	37	11	56409890	56409890	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr11:56409890C>A	ENST00000544374.1	-	1	57	c.29G>T	c.(28-30)gGc>gTc	p.G10V	OR5AP2_ENST00000302981.1_Missense_Mutation_p.G9V			Q8NGF4	O5AP2_HUMAN	olfactory receptor, family 5, subfamily AP, member 2	9					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G9V(1)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	29						TTGATTTCTGCCTCGAACCTC	0.368000													34	67					4.14481e-20	5.6146e-20	1	1	0
XDH	7498	broad.mit.edu	37	2	31570447	31570447	+	Missense_Mutation	SNP	G	G	C			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr2:31570447G>C	ENST00000379416.3	-	29	3265	c.3217C>G	c.(3217-3219)Ccc>Gcc	p.P1073A		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	1073					purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity	p.P1073A(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	GAGGTGTTGGGCACAGTGTTA	0.562000													34	58					0	0	1	0	0
PCDHA10	56139	broad.mit.edu	37	5	140237084	140237084	+	Missense_Mutation	SNP	A	A	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr5:140237084A>T	ENST00000307360.5	+	1	1451	c.1451A>T	c.(1450-1452)cAg>cTg	p.Q484L	PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000506939.2_Missense_Mutation_p.Q484L|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018901.2|NM_031859.1	NP_061724.1|NP_114065.1												p.Q484L(2)		NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGGACGCGCAGGAGAACGCC	0.662000													11	30					0	0	1	0	0
CDC14B	8555	broad.mit.edu	37	9	99285924	99285924	+	Missense_Mutation	SNP	C	C	G			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr9:99285924C>G	ENST00000375241.1	-	10	1481	c.1030G>C	c.(1030-1032)Gtc>Ctc	p.V344L	CDC14B_ENST00000375236.1_Missense_Mutation_p.V344L|CDC14B_ENST00000463569.1_Missense_Mutation_p.V344L|CDC14B_ENST00000265659.2_Missense_Mutation_p.V344L|CDC14B_ENST00000375242.3_Missense_Mutation_p.V307L|CDC14B_ENST00000375240.3_Missense_Mutation_p.V344L	NM_003671.3|NM_033331.2	NP_003662.1|NP_201588.1	O60729	CC14B_HUMAN	cell division cycle 14B	344	B.				activation of anaphase-promoting complex activity|DNA repair|G2/M transition DNA damage checkpoint	nucleolus|nucleoplasm	protein binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.V344L(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)	15		Acute lymphoblastic leukemia(62;0.0559)				CAGATCCTGACCCACGCAATG	0.527000													20	63					0	0	1	0	0
DNAH10	196385	broad.mit.edu	37	12	124297768	124297768	+	Nonsense_Mutation	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr12:124297768G>T	ENST00000409039.3	+	19	2873	c.2848G>T	c.(2848-2850)Gaa>Taa	p.E950*		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	950	Poly-Glu.|Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.E950*(1)|p.E768*(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		GAAGGGGGAGGAAGAGGAAGT	0.393000													49	85					7.34454e-26	1.05739e-25	1	1	0
TRPS1	7227	broad.mit.edu	37	8	116617221	116617221	+	Silent	SNP	T	T	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr8:116617221T>A	ENST00000395715.3	-	4	1552	c.975A>T	c.(973-975)tcA>tcT	p.S325S	TRPS1_ENST00000519674.1_Silent_p.S312S|TRPS1_ENST00000220888.5_Silent_p.S312S|TRPS1_ENST00000519076.1_Silent_p.S266S|TRPS1_ENST00000520276.1_Silent_p.S316S	NM_014112.2	NP_054831.2	Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	312					negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.S325S(1)|p.S312S(1)		autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			ATGTTCCACCTGAAGTCACCT	0.463000									Langer-Giedion syndrome				53	92					0	0	1	0	0
PLEKHH1	57475	broad.mit.edu	37	14	68029127	68029127	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr14:68029127G>T	ENST00000329153.5	+	7	911	c.779G>T	c.(778-780)gGa>gTa	p.G260V		NM_020715.2	NP_065766.1	Q9ULM0	PKHH1_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 1	260						cytoskeleton	binding	p.G299V(1)|p.G260V(1)		endometrium(2)|kidney(4)|lung(12)|urinary_tract(1)	19				all cancers(60;0.000771)|OV - Ovarian serous cystadenocarcinoma(108;0.00502)|BRCA - Breast invasive adenocarcinoma(234;0.011)		CCTCATCTGGGAAGAGAGAGC	0.542000													24	37					1.71298e-08	1.95137e-08	1	1	0
QSOX2	169714	broad.mit.edu	37	9	139115927	139115927	+	Silent	SNP	C	C	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr9:139115927C>T	ENST00000358701.5	-	4	547	c.510G>A	c.(508-510)caG>caA	p.Q170Q		NM_181701.3	NP_859052.3	Q6ZRP7	QSOX2_HUMAN	quiescin Q6 sulfhydryl oxidase 2	170	Thioredoxin.				cell redox homeostasis	extracellular region|integral to membrane|nuclear membrane|plasma membrane	thiol oxidase activity	p.Q170Q(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)	22		Myeloproliferative disorder(178;0.0511)		Epithelial(140;7.78e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.55e-07)		CAATCATCGTCTGTCTGACTG	0.627000													16	25					0	0	1	0	0
RPGRIP1L	23322	broad.mit.edu	37	16	53726179	53726179	+	Missense_Mutation	SNP	C	C	G			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr16:53726179C>G	ENST00000262135.4	-	4	421	c.328G>C	c.(328-330)Gaa>Caa	p.E110Q	RPGRIP1L_ENST00000564374.1_Missense_Mutation_p.E110Q|RPGRIP1L_ENST00000563746.1_Missense_Mutation_p.E110Q|RPGRIP1L_ENST00000379925.3_Missense_Mutation_p.E110Q	NM_001127897.1	NP_001121369.1	Q68CZ1	FTM_HUMAN	RPGRIP1-like	110					negative regulation of G-protein coupled receptor protein signaling pathway	cell-cell junction|centrosome|cilium axoneme|microtubule basal body	thromboxane A2 receptor binding	p.E110Q(1)		endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2)	46		all_cancers(37;0.0973)				TCAATCATTTCTTCCATTTCC	0.448000													15	106					0	0	1	0	0
OR5P3	120066	broad.mit.edu	37	11	7846682	7846682	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr11:7846682C>A	ENST00000328375.1	-	1	837	c.838G>T	c.(838-840)Gtg>Ttg	p.V280L	RP11-35J10.5_ENST00000527565.1_lincRNA	NM_153445.1	NP_703146.1	Q8WZ94	OR5P3_HUMAN	olfactory receptor, family 5, subfamily P, member 3	280					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V280L(1)		autonomic_ganglia(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)	15				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GGAATCACCACGGTGTAGAAC	0.453000													27	119					8.88839e-20	1.19555e-19	1	1	0
OVCH1	341350	broad.mit.edu	37	12	29624753	29624753	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr12:29624753G>A	ENST00000318184.5	-	16	1837	c.1838C>T	c.(1837-1839)gCa>gTa	p.A613V	OVCH1-AS1_ENST00000551108.1_Intron|OVCH1-AS1_ENST00000549411.1_Intron	NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1	613	Peptidase S1 2.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity	p.A613V(1)		NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					ACAGTGGGCTGCGGTCAGAAT	0.493000													37	53					0	0	1	0	0
CACNA1E	777	broad.mit.edu	37	1	181684527	181684527	+	Splice_Site	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr1:181684527G>T	ENST00000526775.1	+	9	1390	c.1225_splice	c.e9+1	p.V409_splice	CACNA1E_ENST00000357570.5_Splice_Site_p.V360_splice|CACNA1E_ENST00000367567.4_Splice_Site_p.V16_splice|CACNA1E_ENST00000358338.5_Splice_Site_p.V360_splice|CACNA1E_ENST00000360108.3_Splice_Site_p.V409_splice|CACNA1E_ENST00000367570.1_Splice_Site_p.V409_splice|CACNA1E_ENST00000367573.2_Splice_Site_p.V409_splice	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	409					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.V409L(2)		NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						CGCCTTAGAAGGTAAGGAAAT	0.383000													6	28					0.000157383	0.000166385	1	1	0
DDC	1644	broad.mit.edu	37	7	50563117	50563117	+	Splice_Site	SNP	T	T	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr7:50563117T>A	ENST00000444124.2	-	9	1077		c.e9-2		DDC_ENST00000431062.1_Splice_Site|DDC_ENST00000357936.5_Splice_Site|DDC_ENST00000380984.4_Splice_Site|DDC_ENST00000426377.1_Splice_Site	NM_001082971.1	NP_001076440.1	P20711	DDC_HUMAN	dopa decarboxylase (aromatic L-amino acid decarboxylase)						cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion	cytosol	aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding	p.?(2)		breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1)	40	Glioma(55;0.08)|all_neural(89;0.245)				Amantadine(DB00915)|Carbidopa(DB00190)|Flupenthixol(DB00875)|L-Tryptophan(DB00150)|Levodopa(DB01235)|Pimozide(DB01100)|Pyridoxal Phosphate(DB00114)|Remoxipride(DB00409)	ATCTGCAAACTGCCAAAGAAC	0.338000													12	37					0	0	1	0	0
ATP10B	23120	broad.mit.edu	37	5	160076224	160076224	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr5:160076224C>T	ENST00000327245.5	-	8	1561	c.715G>A	c.(715-717)Gtg>Atg	p.V239M		NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	239					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	p.V239M(1)		NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TTCTCACACACGATGGTATTG	0.408000													17	81					0	0	1	0	0
MUC4	4585	broad.mit.edu	37	3	195516223	195516223	+	Missense_Mutation	SNP	G	G	C			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr3:195516223G>C	ENST00000463781.3	-	2	2687	c.2228C>G	c.(2227-2229)tCt>tGt	p.S743C	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.S743C	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	748					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	p.S743C(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		TGACACTACAGAGTTGGCCAG	0.602000													13	8					0	0	1	0	0
PDE10A	10846	broad.mit.edu	37	6	165806140	165806140	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr6:165806140G>A	ENST00000366882.1	-	17	1775	c.1621C>T	c.(1621-1623)Ctt>Ttt	p.L541F	PDE10A_ENST00000354448.4_Missense_Mutation_p.L541F|PDE10A_ENST00000539869.2_Missense_Mutation_p.L551F			Q9Y233	PDE10_HUMAN	phosphodiesterase 10A	541					platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding	p.L541F(1)		breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Dipyridamole(DB00975)	CCCACCTCAAGGTCTGTGAAA	0.458000													109	312					0	0	1	0	0
ATP1B3	483	broad.mit.edu	37	3	141632604	141632604	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr3:141632604G>T	ENST00000539728.1	+	5	708	c.415G>T	c.(415-417)Gca>Tca	p.A139S	ATP1B3_ENST00000286371.3_Missense_Mutation_p.A153S|ATP1B3_ENST00000462082.1_Intron			P54709	AT1B3_HUMAN	ATPase, Na+/K+ transporting, beta 3 polypeptide	153					ATP biosynthetic process|blood coagulation|leukocyte migration	melanosome|sodium:potassium-exchanging ATPase complex	protein binding|sodium:potassium-exchanging ATPase activity	p.A153S(1)		cervix(1)|endometrium(1)|lung(2)	4						ATTACTTCAAGCATGCAGTGG	0.398000													134	69					1.47408e-88	2.70721e-88	1	1	0
XPOT	11260	broad.mit.edu	37	12	64819617	64819617	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr12:64819617G>T	ENST00000332707.5	+	15	2124	c.1595G>T	c.(1594-1596)gGt>gTt	p.G532V		NM_007235.4	NP_009166.2	O43592	XPOT_HUMAN	exportin, tRNA	532	Necessary for tRNA-binding, cytoplasmic localization and nuclear export.				intracellular protein transport|tRNA export from nucleus	cytoplasm|nucleoplasm	protein transporter activity|tRNA binding	p.G532V(1)		NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				GBM - Glioblastoma multiforme(28;0.0404)		GATCACAGAGGTCTGCGGCAT	0.373000													62	169					1.10345e-40	1.8274e-40	1	1	0
PRKDC	5591	broad.mit.edu	37	8	48855770	48855770	+	Splice_Site	SNP	T	T	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr8:48855770T>A	ENST00000314191.2	-	10	1021	c.966_splice	c.e10+1	p.Q322_splice	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Splice_Site_p.Q322_splice	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	322					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding	p.Q322L(2)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				TTGTGGTACCTGTTTCAGAAA	0.353000								Non-homologous end-joining					22	8					0	0	1	0	0
FAP	2191	broad.mit.edu	37	2	163082062	163082062	+	Silent	SNP	T	T	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr2:163082062T>A	ENST00000188790.4	-	4	423	c.216A>T	c.(214-216)gcA>gcT	p.A72A	FAP_ENST00000443424.1_Silent_p.A72A	NM_004460.2	NP_004451.2	Q12884	SEPR_HUMAN	fibroblast activation protein, alpha	72					endothelial cell migration|negative regulation of extracellular matrix disassembly|proteolysis	cell junction|integral to membrane|invadopodium membrane|lamellipodium membrane	dipeptidyl-peptidase activity|metalloendopeptidase activity|protein homodimerization activity|serine-type endopeptidase activity	p.A72A(1)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)	63						TATTGTTATCTGCAGATTGAT	0.303000													29	49					0	0	1	0	0
CBX2	84733	broad.mit.edu	37	17	77757733	77757733	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr17:77757733G>T	ENST00000310942.4	+	5	595	c.491G>T	c.(490-492)cGg>cTg	p.R164L		NM_005189.2	NP_005180.1	Q14781	CBX2_HUMAN	chromobox homolog 2	164					cell differentiation|chromatin modification|development of primary sexual characteristics|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	PcG protein complex	DNA binding	p.R164L(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)	16			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			CGGAAGAAGCGGGGACGAAAG	0.677000													4	1					1.06961e-07	1.20647e-07	1	1	0
TRHDE	29953	broad.mit.edu	37	12	72680664	72680664	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr12:72680664C>T	ENST00000261180.4	+	2	1079	c.983C>T	c.(982-984)tCc>tTc	p.S328F		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	328					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding	p.S328F(1)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						CCTCTCATGTCCACATATTAT	0.398000													46	94					0	0	1	0	0
LRRC40	55631	broad.mit.edu	37	1	70652948	70652948	+	Splice_Site	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr1:70652948C>A	ENST00000370952.3	-	3	486	c.407_splice	c.e3+1	p.S136_splice		NM_017768.4	NP_060238.3	Q9H9A6	LRC40_HUMAN	leucine rich repeat containing 40	136								p.S136I(1)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(2)	27						TAATTTTTACCTGACATTAAG	0.249000													15	9					5.03518e-11	5.98581e-11	1	1	0
SEC24B	10427	broad.mit.edu	37	4	110448546	110448546	+	Nonsense_Mutation	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr4:110448546G>T	ENST00000265175.5	+	18	3089	c.3034G>T	c.(3034-3036)Gga>Tga	p.G1012*	SEC24B_ENST00000399100.2_Nonsense_Mutation_p.G977*|SEC24B_ENST00000504968.2_Nonsense_Mutation_p.G1042*	NM_006323.2	NP_006314.2	O95487	SC24B_HUMAN	SEC24 family member B	1012					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|transporter activity|zinc ion binding	p.G977*(1)|p.G1012*(1)		breast(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)		TGTATATGCGGGAGTGGATGT	0.368000													55	58					1.38705e-31	2.10817e-31	1	1	0
FAM171B	165215	broad.mit.edu	37	2	187625877	187625877	+	Silent	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr2:187625877C>A	ENST00000304698.5	+	7	1253	c.1050C>A	c.(1048-1050)gcC>gcA	p.A350A		NM_177454.3	NP_803237.3	Q6P995	F171B_HUMAN	family with sequence similarity 171, member B	350						integral to membrane	DNA binding	p.A350A(1)		NS(1)|breast(6)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(22)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						ACATAACTGCCTACCACACAG	0.338000													38	70					1.56793e-16	2.00094e-16	1	1	0
TEX10	54881	broad.mit.edu	37	9	103088600	103088600	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr9:103088600C>A	ENST00000374902.4	-	9	2139	c.1963G>T	c.(1963-1965)Ggg>Tgg	p.G655W	TEX10_ENST00000535814.1_Missense_Mutation_p.G658W	NM_017746.3	NP_060216.2	Q9NXF1	TEX10_HUMAN	testis expressed 10	655						integral to membrane|MLL1 complex|nuclear membrane|nucleolus	binding	p.G655W(1)		NS(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	38		Acute lymphoblastic leukemia(62;0.0527)		OV - Ovarian serous cystadenocarcinoma(323;0.157)		TGCAGTATCCCGATAAGCATG	0.418000													38	137					5.34276e-22	7.46683e-22	1	1	0
IL7R	3575	broad.mit.edu	37	5	35876346	35876346	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr5:35876346C>A	ENST00000303115.3	+	8	1267	c.1138C>A	c.(1138-1140)Cct>Act	p.P380T	IL7R_ENST00000343305.4_3'UTR	NM_002185.3	NP_002176.2	P16871	IL7RA_HUMAN	interleukin 7 receptor	380					immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity	p.P380T(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			ATGTGACGCCCCTATTCTCTC	0.537000			"""Mis, O"""		"""ALL, ETP ALL"""		Severe combined immune deficiency						31	69					3.78316e-11	4.51614e-11	1	1	0
ATP12A	479	broad.mit.edu	37	13	25264583	25264583	+	Silent	SNP	C	C	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr13:25264583C>T	ENST00000218548.6	+	6	987	c.654C>T	c.(652-654)atC>atT	p.I218I	ATP12A_ENST00000381946.3_Silent_p.I218I	NM_001185085.1|NM_001676.5	NP_001172014.1|NP_001667.4	P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	218					ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding	p.I218I(1)		breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	Esomeprazole(DB00736)|Pantoprazole(DB00213)	CTGCAGACATCAGGGTGCTGT	0.572000													15	132					0	0	1	0	0
TLR8	51311	broad.mit.edu	37	X	12940213	12940213	+	Silent	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chrX:12940213G>T	ENST00000218032.6	+	2	3141	c.3054G>T	c.(3052-3054)ctG>ctT	p.L1018L	TLR8_ENST00000311912.5_Silent_p.L1036L	NM_138636.4	NP_619542.1	Q9NR97	TLR8_HUMAN	toll-like receptor 8	1018	TIR.				cellular response to mechanical stimulus|defense response to virus|I-kappaB kinase/NF-kappaB cascade|immunoglobulin mediated immune response|inflammatory response|innate immune response|positive regulation of innate immune response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process	endosome membrane	DNA binding|double-stranded RNA binding|single-stranded RNA binding|transmembrane receptor activity			breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						GGCAAACTCTGAGAAATGTGG	0.443000													8	242					2.17888e-05	2.3468e-05	1	1	0
ZNF398	57541	broad.mit.edu	37	7	148876178	148876178	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr7:148876178G>T	ENST00000420008.2	+	6	1489	c.701G>T	c.(700-702)aGg>aTg	p.R234M	ZNF398_ENST00000475153.1_Missense_Mutation_p.R405M|ZNF398_ENST00000540950.1_Missense_Mutation_p.R410M|ZNF398_ENST00000483892.1_Missense_Mutation_p.R234M|ZNF398_ENST00000491174.1_Missense_Mutation_p.R234M|ZNF398_ENST00000335901.4_Missense_Mutation_p.R234M|ZNF398_ENST00000426851.2_Missense_Mutation_p.R234M	NM_170686.2	NP_733787.1	Q8TD17	ZN398_HUMAN	zinc finger protein 398	405					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R405M(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)	25	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00143)			CACTGTGCCAGGACTTTTACT	0.582000													59	54					4.83248e-46	8.14416e-46	1	1	0
ADAM32	203102	broad.mit.edu	37	8	39027483	39027483	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr8:39027483G>T	ENST00000379907.4	+	10	1009	c.882G>T	c.(880-882)atG>atT	p.M294I	ADAM32_ENST00000519315.1_Missense_Mutation_p.M294I|ADAM32_ENST00000437682.2_Missense_Mutation_p.M301I	NM_145004.5	NP_659441.3	Q8TC27	ADA32_HUMAN	ADAM metallopeptidase domain 32	294	Peptidase M12B.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding	p.M293I(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	31		all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503)	LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146)			CTGGAACAATGTGTATTACTC	0.244000													64	38					1.11883e-47	1.90234e-47	1	1	0
DDI1	414301	broad.mit.edu	37	11	103908205	103908205	+	Silent	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr11:103908205C>A	ENST00000302259.3	+	1	898	c.655C>A	c.(655-657)Cgg>Agg	p.R219R	PDGFD_ENST00000302251.5_Intron|PDGFD_ENST00000393158.2_Intron	NM_001001711.2	NP_001001711.1	Q8WTU0	DDI1_HUMAN	DNA-damage inducible 1 homolog 1 (S. cerevisiae)	219					proteolysis		aspartic-type endopeptidase activity	p.R219R(2)		central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)		AGAGGAAATCCGGCAGCAAAA	0.483000													20	32					7.33628e-21	1.00327e-20	1	1	0
OR2F2	135948	broad.mit.edu	37	7	143633237	143633237	+	Silent	SNP	A	A	G			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr7:143633237A>G	ENST00000408955.2	+	1	979	c.912A>G	c.(910-912)ctA>ctG	p.L304L		NM_001004685.1	NP_001004685.1	O95006	OR2F2_HUMAN	olfactory receptor, family 2, subfamily F, member 2	304					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L304L(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(19)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	32	Melanoma(164;0.0903)					GGCATAAACTATTAGAGAAAT	0.418000													16	63					0	0	1	0	0
ZPBP2	124626	broad.mit.edu	37	17	38033026	38033026	+	Silent	SNP	A	A	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr17:38033026A>T	ENST00000377940.3	+	7	1054	c.915A>T	c.(913-915)ccA>ccT	p.P305P	ZPBP2_ENST00000348931.4_Silent_p.P327P|ZPBP2_ENST00000584588.1_Silent_p.P254P	NM_198844.2	NP_942141.2	Q6X784	ZPBP2_HUMAN	zona pellucida binding protein 2	327					binding of sperm to zona pellucida	extracellular region		p.P327P(1)		kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	15	Colorectal(19;0.000442)		Lung(15;0.00849)|LUSC - Lung squamous cell carcinoma(15;0.171)			AATCTTGCCCACAAACTTCAA	0.418000													47	156					0	0	1	0	0
KRTAP4-4	84616	broad.mit.edu	37	17	39316831	39316831	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr17:39316831G>T	ENST00000390661.3	-	1	152	c.113C>A	c.(112-114)cCc>cAc	p.P38H		NM_032524.1	NP_115913.1	Q9BYR3	KRA44_HUMAN	keratin associated protein 4-4	38	26 X 5 AA repeats of C-C-[GRQVCH]-[SPT]- [VSTQR].					keratin filament		p.P38H(1)		kidney(1)|large_intestine(1)|lung(5)	7		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			ACAGCAGCTGGGGCGGCAGCA	0.652000													40	59					3.76287e-55	6.63423e-55	1	1	0
CMA1	1215	broad.mit.edu	37	14	24974789	24974789	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr14:24974789G>T	ENST00000250378.3	-	5	706	c.677C>A	c.(676-678)cCc>cAc	p.P226H	RP11-80A15.1_ENST00000555109.1_Intron|CMA1_ENST00000206446.4_Missense_Mutation_p.P115H	NM_001836.3	NP_001827.1	P23946	CMA1_HUMAN	chymase 1, mast cell	226	Peptidase S1.				interleukin-1 beta biosynthetic process|proteolysis	extracellular region	serine-type endopeptidase activity	p.P226H(1)		kidney(1)|lung(8)|pancreas(1)|prostate(1)	11				GBM - Glioblastoma multiforme(265;0.0271)		GACAGCAGGGGGCTTTGCATC	0.587000													56	47					1.41257e-51	2.43063e-51	1	1	0
TNN	63923	broad.mit.edu	37	1	175086125	175086125	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr1:175086125G>T	ENST00000239462.4	+	10	2283	c.2170G>T	c.(2170-2172)Gcc>Tcc	p.A724S		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	724	Fibronectin type-III 6.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix		p.A724S(1)		NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		AGAGAATATGGCCACTGTCTC	0.537000													54	65					7.92265e-33	1.22034e-32	1	1	0
RAP2C	57826	broad.mit.edu	37	X	131351048	131351048	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chrX:131351048G>T	ENST00000342983.2	-	2	995	c.249C>A	c.(247-249)agC>agA	p.S83R	RAP2C_ENST00000460462.1_5'UTR|RAP2C_ENST00000370874.1_Missense_Mutation_p.S83R	NM_001271186.1|NM_001271187.1|NM_021183.3	NP_001258115.1|NP_001258116.1|NP_067006.3	Q9Y3L5	RAP2C_HUMAN	RAP2C, member of RAS oncogene family	83					negative regulation of cell migration|positive regulation of protein autophosphorylation|Rap protein signal transduction|regulation of protein tyrosine kinase activity	recycling endosome membrane	GTP binding|GTPase activity	p.S83R(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|ovary(1)|upper_aerodigestive_tract(2)	8	Acute lymphoblastic leukemia(192;0.000127)					GATTAACCAGGCTATAAACCA	0.468000													3	52					0.00909568	0.00927371	1	1	0
SATB2	23314	broad.mit.edu	37	2	200173625	200173625	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr2:200173625G>T	ENST00000443023.1	-	9	2886	c.1421C>A	c.(1420-1422)aCc>aAc	p.T474N	SATB2_ENST00000260926.5_Missense_Mutation_p.T533N|SATB2_ENST00000417098.1_Missense_Mutation_p.T533N|SATB2_ENST00000457245.1_Missense_Mutation_p.T533N|SATB2_ENST00000428695.1_Missense_Mutation_p.T415N			Q9UPW6	SATB2_HUMAN	SATB homeobox 2	533						cytoplasm|nuclear matrix	sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						TTCCCAGAGGGTGCGGTTTTC	0.552000													27	47					2.20474e-14	2.76436e-14	1	1	0
MLKL	197259	broad.mit.edu	37	16	74708939	74708939	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr16:74708939C>A	ENST00000308807.7	-	10	1763	c.1300G>T	c.(1300-1302)Ggt>Tgt	p.G434C	MLKL_ENST00000306247.7_Missense_Mutation_p.G226C	NM_152649.2	NP_689862.1	Q8NB16	MLKL_HUMAN	mixed lineage kinase domain-like	434	Protein kinase.						ATP binding|protein binding|protein kinase activity	p.G434C(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(6)|skin(1)|stomach(2)	19						CAGTCTTCACCCAGTGGCTCC	0.552000													9	40					1.15919e-05	1.2556e-05	1	1	0
XYLT1	64131	broad.mit.edu	37	16	17221646	17221646	+	Silent	SNP	G	G	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr16:17221646G>A	ENST00000261381.6	-	10	2184	c.2100C>T	c.(2098-2100)atC>atT	p.I700I		NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	700					glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity	p.I700I(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CATGATGCTTGATCAGAAAGC	0.517000													60	195					0	0	1	0	0
LRRC23	10233	broad.mit.edu	37	12	7023108	7023108	+	Missense_Mutation	SNP	A	A	G			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr12:7023108A>G	ENST00000323702.5	+	7	924	c.812A>G	c.(811-813)cAc>cGc	p.H271R	LRRC23_ENST00000443597.2_3'UTR|LRRC23_ENST00000429740.1_Missense_Mutation_p.T182A|LRRC23_ENST00000436789.1_3'UTR|LRRC23_ENST00000007969.8_3'UTR	NM_006992.3	NP_008923.1	Q53EV4	LRC23_HUMAN	leucine rich repeat containing 23	0								p.H271R(1)		NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|stomach(1)	13						GGCAGCCACCACATGTATGAC	0.547000													42	89					0	0	1	0	0
TENM1	10178	broad.mit.edu	37	X	123518364	123518364	+	Silent	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chrX:123518364G>T	ENST00000422452.2	-	30	6480	c.6417C>A	c.(6415-6417)cgC>cgA	p.R2139R	STAG2_ENST00000469481.1_Intron|TENM1_ENST00000371130.3_Silent_p.R2132R	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1									p.R2134R(1)									ATATTACCATGCGGCCCACAT	0.398000													178	129					9.38108e-128	1.77405e-127	1	1	0
CARD11	84433	broad.mit.edu	37	7	2976689	2976689	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr7:2976689G>T	ENST00000396946.4	-	9	1726	c.1323C>A	c.(1321-1323)gaC>gaA	p.D441E		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	441					positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity	p.D434E(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		GGTTGTTGCTGTCCTTGGAGA	0.672000			Mis		DLBCL								14	12					7.05477e-17	9.06363e-17	1	1	0
GRM5	2915	broad.mit.edu	37	11	88780774	88780774	+	Silent	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr11:88780774G>T	ENST00000418177.2	-	2	634	c.267C>A	c.(265-267)atC>atA	p.I89I	GRM5_ENST00000393294.3_Silent_p.I89I|GRM5_ENST00000305432.5_Silent_p.I89I|GRM5_ENST00000305447.4_Silent_p.I89I|GRM5_ENST00000455756.2_Silent_p.I89I|GRM5_ENST00000393297.1_Silent_p.I89I			P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	89					activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	p.I89I(2)		NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	AGCCCAGTGTGATGTTGGGCA	0.527000													15	16					0.000132079	0.000139891	1	1	0
SAMD9	54809	broad.mit.edu	37	7	92734038	92734038	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr7:92734038C>A	ENST00000379958.2	-	3	1642	c.1373G>T	c.(1372-1374)aGc>aTc	p.S458I		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	458						cytoplasm		p.S458I(1)		NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			TGCTACTCGGCTTTCTTTGTA	0.383000													9	42					1.08611e-07	1.22267e-07	1	1	0
SEMA5A	9037	broad.mit.edu	37	5	9190417	9190417	+	Missense_Mutation	SNP	C	C	G			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr5:9190417C>G	ENST00000382496.5	-	11	1900	c.1235G>C	c.(1234-1236)gGc>gCc	p.G412A		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	412	Sema.				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane		p.G412A(1)		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						CGCTTCTCTGCCCTGCACCAC	0.522000													11	47					0	0	1	0	0
ASXL3	80816	broad.mit.edu	37	18	31325156	31325156	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr18:31325156C>A	ENST00000269197.5	+	12	5344	c.5344C>A	c.(5344-5346)Ctt>Att	p.L1782I		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	1782					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding	p.L1782I(1)		breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						TCCATTGCCTCTTCAAACTAC	0.507000													25	71					3.17567e-06	3.48594e-06	1	1	0
AACSP1	729522	broad.mit.edu	37	5	178202275	178202275	+	RNA	SNP	C	C	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr5:178202275C>T	ENST00000503486.2	-	0	844					NR_024035.1																						TACCTCCAGCCGAGCATGATG	0.652000													3	1					0	0	1	0	0
TDP2	51567	broad.mit.edu	37	6	24667094	24667094	+	Silent	SNP	C	C	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr6:24667094C>T	ENST00000545995.1	-	1	86	c.87G>A	c.(85-87)agG>agA	p.R29R	TDP2_ENST00000378198.4_5'UTR	NM_016614.2	NP_057698.2	O95551	TYDP2_HUMAN	tyrosyl-DNA phosphodiesterase 2	0					cell surface receptor linked signaling pathway|double-strand break repair	PML body	5'-tyrosyl-DNA phosphodiesterase activity|magnesium ion binding|nuclease activity|protein binding|transcription corepressor activity			kidney(2)|large_intestine(1)|lung(5)|ovary(1)	9						ACTCCATCTTCCTGCCGCCTC	0.672000								Direct reversal of damage					6	24					0	0	1	0	0
ENPP2	5168	broad.mit.edu	37	8	120580440	120580440	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr8:120580440C>A	ENST00000427067.2	-	23	2349	c.2169G>T	c.(2167-2169)atG>atT	p.M723I	ENPP2_ENST00000259486.6_Missense_Mutation_p.M754I|ENPP2_ENST00000522167.1_Missense_Mutation_p.M337I|ENPP2_ENST00000522826.1_Missense_Mutation_p.M727I|ENPP2_ENST00000075322.6_Missense_Mutation_p.M702I			Q13822	ENPP2_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 2	702					cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration	extracellular space|integral to plasma membrane	alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding	p.M754I(1)|p.M727I(1)		breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			ACATTGGAACCATATTGGTTA	0.313000													151	209					8.31651e-93	1.53721e-92	1	1	0
TPTE	7179	broad.mit.edu	37	21	10920156	10920156	+	Silent	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr21:10920156C>A	ENST00000298232.7	-	18	1411	c.1044G>T	c.(1042-1044)ctG>ctT	p.L348L	TPTE_ENST00000342420.5_Silent_p.L328L|TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000361285.4_Silent_p.L366L	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	366	Phosphatase tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.L366L(2)|p.L348L(2)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CAAAATAATACAGGCTTTCCT	0.383000													12	259					2.23348e-06	2.46113e-06	1	1	0
PLA2R1	22925	broad.mit.edu	37	2	160901382	160901382	+	Silent	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr2:160901382C>A	ENST00000283243.7	-	2	602	c.396G>T	c.(394-396)gtG>gtT	p.V132V	PLA2R1_ENST00000392771.1_Silent_p.V132V	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1, 180kDa	132	Ricin B-type lectin.				endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding	p.V132V(1)	PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						TGTCATGCGCCACCTGGACAG	0.478000													108	153					2.93447e-47	4.97471e-47	1	1	0
LSM14A	26065	broad.mit.edu	37	19	34710724	34710724	+	Missense_Mutation	SNP	A	A	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr19:34710724A>T	ENST00000544216.3	+	8	1155	c.1078A>T	c.(1078-1080)Aat>Tat	p.N360Y	LSM14A_ENST00000540746.2_Missense_Mutation_p.N319Y|LSM14A_ENST00000433627.5_Missense_Mutation_p.N360Y	NM_015578.2	NP_056393.2	Q8ND56	LS14A_HUMAN	LSM14A, SCD6 homolog A (S. cerevisiae)	360					cytoplasmic mRNA processing body assembly|multicellular organismal development|regulation of translation	cytoplasmic mRNA processing body|intracellular membrane-bounded organelle|stress granule		p.N360Y(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(7)|skin(1)	22	Esophageal squamous(110;0.162)					ACTTGGACCTAATTGCTATTA	0.348000													36	41					0	0	1	0	0
GRM8	2918	broad.mit.edu	37	7	126173844	126173844	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr7:126173844C>T	ENST00000339582.2	-	9	2400	c.1592G>A	c.(1591-1593)gGg>gAg	p.G531E	GRM8_ENST00000444921.2_Missense_Mutation_p.G531E|GRM8_ENST00000480995.1_Intron|GRM8_ENST00000358373.3_Missense_Mutation_p.G531E			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	531					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane		p.G531E(1)		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)	GCAAGGGACCCCTTTCACCGT	0.552000										HNSCC(24;0.065)			16	86					0	0	1	0	0
F5	2153	broad.mit.edu	37	1	169513566	169513566	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr1:169513566C>T	ENST00000367796.3	-	12	2159	c.1958G>A	c.(1957-1959)gGa>gAa	p.G653E	F5_ENST00000367797.3_Missense_Mutation_p.G648E			P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	648	F5/8 type A 2.|Plastocyanin-like 4.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity	p.G648E(1)		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)	CACAGATTCTCCACGCATGGG	0.478000													54	229					0	0	1	0	0
NCOA7	135112	broad.mit.edu	37	6	126210971	126210971	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr6:126210971G>T	ENST00000368357.3	+	10	2123	c.1771G>T	c.(1771-1773)Gta>Tta	p.V591L	NCOA7_ENST00000392477.2_Missense_Mutation_p.V591L|NCOA7_ENST00000229634.9_Missense_Mutation_p.V476L	NM_001199619.1|NM_001199620.1	NP_001186548.1|NP_001186549.1	Q8NI08	NCOA7_HUMAN	nuclear receptor coactivator 7	591					cell wall macromolecule catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	p.V591L(1)		NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(2)	39				UCEC - Uterine corpus endometrioid carcinoma (4;0.0803)|GBM - Glioblastoma multiforme(226;0.0193)|all cancers(137;0.237)		GCCCCTCCCGGTAAAACTGAA	0.468000													20	34					3.5997e-14	4.49374e-14	1	1	0
INSRR	3645	broad.mit.edu	37	1	156812834	156812834	+	Nonsense_Mutation	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr1:156812834C>A	ENST00000368195.3	-	17	3484	c.3088G>T	c.(3088-3090)Gaa>Taa	p.E1030*	NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	1030	Protein kinase.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity	p.E1030*(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					ACAGAAGCTTCCTTGAGGAAC	0.527000													42	49					1.0096e-33	1.56775e-33	1	1	0
CC2D1B	200014	broad.mit.edu	37	1	52821917	52821917	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr1:52821917C>A	ENST00000371586.2	-	18	2151	c.2013G>T	c.(2011-2013)caG>caT	p.Q671H	CC2D1B_ENST00000438831.1_Missense_Mutation_p.Q46H|CC2D1B_ENST00000460261.1_5'UTR|CC2D1B_ENST00000284376.3_Missense_Mutation_p.Q665H	NM_032449.2	NP_115825.1	Q5T0F9	C2D1B_HUMAN	coiled-coil and C2 domain containing 1B	671								p.Q671H(1)		breast(1)|large_intestine(6)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	27						GGCCCTGAGCCTGGGCCAGCT	0.567000													26	92					5.60225e-13	6.8886e-13	1	1	0
SLC5A4	6527	broad.mit.edu	37	22	32620393	32620393	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr22:32620393C>A	ENST00000266086.4	-	13	1537	c.1526G>T	c.(1525-1527)gGg>gTg	p.G509V	RP1-90G24.10_ENST00000434942.1_RNA	NM_014227.2	NP_055042.1	Q9NY91	SC5A4_HUMAN	solute carrier family 5 (glucose activated ion channel), member 4	509					carbohydrate transport|sodium ion transport	integral to membrane	symporter activity	p.G509V(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|pancreas(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						CAAGCAACTCCCTGTTCCATA	0.458000													9	88					3.45872e-05	3.71828e-05	1	1	0
NOL8	55035	broad.mit.edu	37	9	95072852	95072852	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr9:95072852C>A	ENST00000545558.1	-	9	3070	c.2578G>T	c.(2578-2580)Ggc>Tgc	p.G860C	NOL8_ENST00000358855.4_Missense_Mutation_p.G792C|NOL8_ENST00000535387.1_Missense_Mutation_p.G822C|NOL8_ENST00000442668.2_Missense_Mutation_p.G860C|NOL8_ENST00000542053.1_Missense_Mutation_p.G792C			Q76FK4	NOL8_HUMAN	nucleolar protein 8	860					DNA replication|positive regulation of cell growth	nucleolus	nucleotide binding|protein binding|RNA binding	p.G862C(1)|p.G860C(1)		endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	16						CCAGCTCTGCCCTCAAACTGA	0.388000													123	456					1.9257e-63	3.45901e-63	1	1	0
EPHX1	2052	broad.mit.edu	37	1	226016460	226016460	+	Silent	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr1:226016460G>T	ENST00000366837.4	+	2	226	c.30G>T	c.(28-30)gtG>gtT	p.V10V	EPHX1_ENST00000272167.5_Silent_p.V10V	NM_000120.3	NP_000111.1	P07099	HYEP_HUMAN	epoxide hydrolase 1, microsomal (xenobiotic)	10					aromatic compound catabolic process|response to toxin	endoplasmic reticulum membrane|integral to membrane|microsome	cis-stilbene-oxide hydrolase activity|epoxide hydrolase activity	p.V10V(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	28	Breast(184;0.197)					TCACTTCAGTGCTGGGCTTTG	0.597000													4	21					0.014758	0.014967	1	1	0
KCNK2	3776	broad.mit.edu	37	1	215345403	215345403	+	Missense_Mutation	SNP	T	T	G			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr1:215345403T>G	ENST00000444842.2	+	5	850	c.700T>G	c.(700-702)Tgt>Ggt	p.C234G	KCNK2_ENST00000391894.2_Missense_Mutation_p.C219G|KCNK2_ENST00000391895.2_Missense_Mutation_p.C230G	NM_001017425.2|NM_014217.3	NP_001017425.2|NP_055032.1	O95069	KCNK2_HUMAN	potassium channel, subfamily K, member 2	234							outward rectifier potassium channel activity	p.C234G(1)|p.C219G(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068)	Dofetilide(DB00204)	ACTATTTGGCTGTGTACTCTT	0.393000													94	140					0	0	1	0	0
TNRC6C	57690	broad.mit.edu	37	17	76045357	76045357	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr17:76045357G>A	ENST00000335749.4	+	3	783	c.214G>A	c.(214-216)Gga>Aga	p.G72R	TNRC6C_ENST00000301624.4_Missense_Mutation_p.G72R|TNRC6C_ENST00000588061.1_Missense_Mutation_p.G72R|TNRC6C_ENST00000541771.1_Missense_Mutation_p.G72R|TNRC6C_ENST00000544502.1_Missense_Mutation_p.G72R|TNRC6C_ENST00000588847.1_Missense_Mutation_p.G72R	NM_001142640.1	NP_001136112.1	Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C	72	Sufficient for interaction with argonaute family proteins.				gene silencing by RNA|regulation of translation		nucleotide binding|RNA binding	p.G72R(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			TGGTGGGGATGGAAAAATGGA	0.522000													13	116					0	0	1	0	0
FSHR	2492	broad.mit.edu	37	2	49190064	49190064	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr2:49190064G>T	ENST00000406846.2	-	10	2015	c.1896C>A	c.(1894-1896)aaC>aaA	p.N632K	FSHR_ENST00000541117.1_Missense_Mutation_p.N368K|FSHR_ENST00000304421.4_Missense_Mutation_p.N606K|FSHR_ENST00000346173.3_Missense_Mutation_p.N570K	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	632					female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding	p.N632K(2)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)	CTCTGCGAAAGTTTTTGGTAA	0.463000									Gonadal Dysgenesis, 46 XX				34	76					2.32173e-10	2.72613e-10	1	1	0
AK2	204	broad.mit.edu	37	1	33478994	33478994	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr1:33478994C>T	ENST00000373449.2	-	6	549	c.508G>A	c.(508-510)Gaa>Aaa	p.E170K	RP1-117O3.2_ENST00000427524.1_RNA|AK2_ENST00000480134.1_3'UTR|AK2_ENST00000548033.1_Missense_Mutation_p.E128K|AK2_ENST00000467905.1_Missense_Mutation_p.E170K|AK2_ENST00000354858.6_Missense_Mutation_p.E170K	NM_001199199.1|NM_013411.4	NP_001186128.1|NP_037543.1	P54819	KAD2_HUMAN	adenylate kinase 2	170					nucleobase, nucleoside and nucleotide interconversion	mitochondrial intermembrane space	adenylate kinase activity|ATP binding	p.E170K(2)		kidney(1)|large_intestine(2)|lung(4)|skin(1)	8		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)				ATCAAGGGTTCCCCGGTGATC	0.473000													8	18					0	0	1	0	0
MAML2	84441	broad.mit.edu	37	11	95825768	95825768	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr11:95825768C>A	ENST00000524717.1	-	2	2711	c.1427G>T	c.(1426-1428)gGg>gTg	p.G476V		NM_032427.1	NP_115803.1	Q8IZL2	MAML2_HUMAN	mastermind-like 2 (Drosophila)	476					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity	p.G476V(1)	CRTC3/MAML2(26)|CRTC1/MAML2(516)	breast(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	43		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)				TTTCTCCTGCCCAAATGGACC	0.607000			T	"""MECT1, CRTC3"""	salivary gland mucoepidermoid								37	62					1.32136e-16	1.69004e-16	1	1	0
KIAA0196	9897	broad.mit.edu	37	8	126061389	126061389	+	Silent	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr8:126061389C>A	ENST00000318410.7	-	19	2587	c.2238G>T	c.(2236-2238)gcG>gcT	p.A746A	KIAA0196_ENST00000517845.1_Silent_p.A598A	NM_014846.3	NP_055661.3	Q12768	STRUM_HUMAN	KIAA0196	746					cell death	WASH complex		p.A746A(1)		NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	42	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			CATCCATGGTCGCTCCCAACT	0.398000													59	112					2.47556e-37	4.01841e-37	1	1	0
ASAP2	8853	broad.mit.edu	37	2	9525405	9525405	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr2:9525405C>T	ENST00000281419.3	+	21	2388	c.2048C>T	c.(2047-2049)tCt>tTt	p.S683F	ASAP2_ENST00000315273.4_Missense_Mutation_p.S683F	NM_003887.2	NP_003878.1	O43150	ASAP2_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 2	683					regulation of ARF GTPase activity	Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|protein binding|zinc ion binding	p.S683F(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	36						AGATTTAATTCTCACGTTCAC	0.483000													8	174					0	0	1	0	0
NCKAP5	344148	broad.mit.edu	37	2	133541594	133541594	+	Silent	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr2:133541594C>A	ENST00000409261.1	-	14	3163	c.2790G>T	c.(2788-2790)ccG>ccT	p.P930P	NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000317721.6_Silent_p.P930P	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	930	Poly-Pro.						protein binding	p.P930P(1)		NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						CTGGAGGGGGCGGAGGGGAAG	0.622000													6	9					3.09899e-07	3.47499e-07	1	1	0
CPXM1	56265	broad.mit.edu	37	20	2775235	2775235	+	Silent	SNP	C	C	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr20:2775235C>T	ENST00000380605.2	-	13	1975	c.1911G>A	c.(1909-1911)ggG>ggA	p.G637G		NM_001184699.1|NM_019609.4	NP_001171628.1|NP_062555.1	Q96SM3	CPXM1_HUMAN	carboxypeptidase X (M14 family), member 1	637					cell adhesion|proteolysis		metallocarboxypeptidase activity|zinc ion binding	p.G637G(1)		endometrium(5)|kidney(5)|large_intestine(8)|lung(17)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						CGTCAGCAATCCCAAGCTCCG	0.592000													9	104					0	0	1	0	0
ADAMTS12	81792	broad.mit.edu	37	5	33576861	33576861	+	Silent	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr5:33576861G>T	ENST00000504830.1	-	19	3605	c.3270C>A	c.(3268-3270)ccC>ccA	p.P1090P	ADAMTS12_ENST00000352040.3_Silent_p.P1005P	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1090	Spacer 2.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.P1090P(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						AAGTGAGGATGGGCTGGGAAG	0.512000										HNSCC(64;0.19)			110	198					2.31934e-59	4.12727e-59	1	1	0
PAX1	5075	broad.mit.edu	37	20	21695388	21695388	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr20:21695388C>T	ENST00000398485.2	+	5	1606	c.1552C>T	c.(1552-1554)Cca>Tca	p.P518S	PAX1_ENST00000444366.2_3'UTR	NM_001257096.1|NM_006192.4	NP_001244025.1|NP_006183.2	P15863	PAX1_HUMAN	paired box 1	518					regulation of transcription, DNA-dependent|skeletal system development|transcription from RNA polymerase II promoter	nucleus	DNA binding	p.P518S(1)|p.P424S(1)		autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(21)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	38						GCCGGACCCACCACACTTCCT	0.637000													7	14					0	0	1	0	0
DCHS2	54798	broad.mit.edu	37	4	155156960	155156960	+	Silent	SNP	G	G	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr4:155156960G>A	ENST00000357232.3	-	25	7478	c.7479C>T	c.(7477-7479)ctC>ctT	p.L2493L		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	2493	Cadherin 22.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.L2493L(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		CTTCTTTGTTGAGTTGACTTT	0.353000													4	90					0	0	1	0	0
SLC6A18	348932	broad.mit.edu	37	5	1240646	1240646	+	Splice_Site	SNP	G	G	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr5:1240646G>A	ENST00000324642.3	+	7	969	c.845_splice	c.e7-1	p.R282_splice	SLC6A18_ENST00000296821.4_Splice_Site_p.R277_splice	NM_182632.2	NP_872438.2	Q96N87	S6A18_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 18	282					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	p.R282R(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1)	34	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			TTGTGCCCAGGAATGACTGCC	0.587000													6	38					0	0	1	0	0
PRKAB1	5564	broad.mit.edu	37	12	120112183	120112183	+	Silent	SNP	C	C	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr12:120112183C>T	ENST00000229328.5	+	4	948	c.456C>T	c.(454-456)atC>atT	p.I152I	PRKAB1_ENST00000540121.1_5'UTR|PRKAB1_ENST00000541640.1_Silent_p.I152I	NM_006253.4	NP_006244.2	Q9Y478	AAKB1_HUMAN	protein kinase, AMP-activated, beta 1 non-catalytic subunit	152					cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid oxidation	cytosol		p.I152I(1)		endometrium(2)|large_intestine(3)|lung(5)	10	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.166)	Adenosine monophosphate(DB00131)|Metformin(DB00331)	TTAACAACATCATTCAAGTGA	0.418000													5	88					0	0	1	0	0
COPB1	1315	broad.mit.edu	37	11	14496111	14496111	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr11:14496111G>A	ENST00000249923.3	-	14	1967	c.1667C>T	c.(1666-1668)tCc>tTc	p.S556F	COPB1_ENST00000439561.2_Missense_Mutation_p.S556F|COPB1_ENST00000526191.1_5'UTR	NM_016451.4	NP_057535.1	P53618	COPB_HUMAN	coatomer protein complex, subunit beta 1	556					COPI coating of Golgi vesicle|interspecies interaction between organisms|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|ER-Golgi intermediate compartment|plasma membrane	protein binding|structural molecule activity	p.S556F(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	36						TGTGGCAAGGGAGGCAGCAAC	0.423000													47	213					0	0	1	0	0
IL17REL	400935	broad.mit.edu	37	22	50438923	50438923	+	Missense_Mutation	SNP	C	C	A	rs137904241		TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr22:50438923C>A	ENST00000389983.2	-	6	582	c.318G>T	c.(316-318)caG>caT	p.Q106H	IL17REL_ENST00000341280.5_Missense_Mutation_p.Q106H	NM_001001694.2	NP_001001694.2	Q6ZVW7	I17EL_HUMAN	interleukin 17 receptor E-like	106								p.Q106H(1)		endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)	6		all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236)		BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		CGAGGTGCCTCTGGTCCAGCT	0.652000													4	5					0.00909568	0.00927371	1	1	0
CSF2RB	1439	broad.mit.edu	37	22	37329915	37329915	+	Silent	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr22:37329915C>A	ENST00000262825.5	+	10	1429	c.1212C>A	c.(1210-1212)gcC>gcA	p.A404A	CSF2RB_ENST00000406230.1_Silent_p.A404A|CSF2RB_ENST00000403662.3_Silent_p.A398A|CSF2RB_ENST00000536485.1_Silent_p.A345A	NM_000395.2	NP_000386.1	P32927	IL3RB_HUMAN	colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage)	398	Fibronectin type-III 2.				respiratory gaseous exchange	granulocyte macrophage colony-stimulating factor receptor complex	cytokine receptor activity	p.A398A(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42					Sargramostim(DB00020)	ACAGCATGGCCCTGCCAGCCC	0.677000													13	2					1.10513e-12	1.35598e-12	1	1	0
ITGBL1	9358	broad.mit.edu	37	13	102367973	102367973	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr13:102367973G>T	ENST00000376180.3	+	11	1673	c.1454G>T	c.(1453-1455)tGt>tTt	p.C485F	ITGBL1_ENST00000376162.3_Missense_Mutation_p.C392F|ITGBL1_ENST00000545560.2_Missense_Mutation_p.C344F	NM_001271756.1|NM_004791.1	NP_001258685.1|NP_004782.1	O95965	ITGBL_HUMAN	integrin, beta-like 1 (with EGF-like repeat domains)	485	Cysteine-rich tandem repeats.				cell-matrix adhesion|integrin-mediated signaling pathway	extracellular region|integrin complex	binding|receptor activity	p.C485F(1)		breast(1)|large_intestine(6)|lung(16)|ovary(1)|prostate(4)|skin(3)	31	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GGAAATGCATGTGAAATCTGG	0.373000													180	141					3.54448e-97	6.57277e-97	1	1	0
TLE4	7091	broad.mit.edu	37	9	82336678	82336678	+	Nonsense_Mutation	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr9:82336678G>T	ENST00000376520.4	+	18	2785	c.1957G>T	c.(1957-1959)Gga>Tga	p.G653*	TLE4_ENST00000376544.3_Nonsense_Mutation_p.G552*|TLE4_ENST00000376534.4_Nonsense_Mutation_p.G258*|TLE4_ENST00000376552.2_Nonsense_Mutation_p.G621*|TLE4_ENST00000265284.6_Nonsense_Mutation_p.G596*|TLE4_ENST00000376537.4_Nonsense_Mutation_p.G653*			O60756	BCE1_HUMAN	transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila)	0								p.G621*(1)|p.G653*(1)		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						CCACACAGATGGAGCCAGCTG	0.473000													52	58					5.80444e-35	9.23873e-35	1	1	0
CDH8	1006	broad.mit.edu	37	16	61687618	61687618	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr16:61687618G>T	ENST00000577390.1	-	12	3248	c.2294C>A	c.(2293-2295)aCc>aAc	p.T765N	CDH8_ENST00000299345.6_Intron|CDH8_ENST00000577730.1_Intron	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	765					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.T765N(1)		biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		GTCTGATGTGGTGGACTCCAA	0.522000													12	50					0.0931896	0.0940099	1	1	0
PXDNL	137902	broad.mit.edu	37	8	52370158	52370158	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr8:52370158G>T	ENST00000356297.4	-	9	982	c.882C>A	c.(880-882)aaC>aaA	p.N294K	PXDNL_ENST00000543296.1_Missense_Mutation_p.N294K	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	294	Ig-like C2-type 1.				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	p.N294K(1)		NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				ACTCTCTGGTGTTTCGGATCA	0.443000													204	134					5.58888e-140	1.06393e-139	1	1	0
ADAMTSL3	57188	broad.mit.edu	37	15	84651595	84651595	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr15:84651595C>A	ENST00000286744.5	+	21	3439	c.3215C>A	c.(3214-3216)tCc>tAc	p.S1072Y	ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.S1072Y	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	1072						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	p.S1072Y(1)		NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			AGCACCAACTCCTGGGAGTTG	0.433000													82	123					7.22319e-40	1.18934e-39	1	1	0
OR4E2	26686	broad.mit.edu	37	14	22133768	22133768	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr14:22133768G>T	ENST00000408935.1	+	1	472	c.472G>T	c.(472-474)Ggg>Tgg	p.G158W		NM_001001912.1	NP_001001912.1	Q8NGC2	OR4E2_HUMAN	olfactory receptor, family 4, subfamily E, member 2	158					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G158W(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	15	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0137)		TCACTCACTAGGGCAGACCTT	0.488000													204	210					5.12032e-141	9.77981e-141	1	1	0
NOX5	79400	broad.mit.edu	37	15	69335109	69335109	+	Missense_Mutation	SNP	G	G	C			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr15:69335109G>C	ENST00000260364.5	+	11	1858	c.1557G>C	c.(1555-1557)agG>agC	p.R519S	RP11-809H16.4_ENST00000559495.1_RNA|NOX5_ENST00000455873.3_Missense_Mutation_p.R502S|NOX5_ENST00000388866.3_Missense_Mutation_p.R537S|NOX5_ENST00000530406.2_Missense_Mutation_p.R509S|NOX5_ENST00000448182.3_Missense_Mutation_p.R491S			Q96PH1	NOX5_HUMAN	NADPH oxidase, EF-hand calcium binding domain 5	537	C-terminal catalytic region.|FAD-binding FR-type.				angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation	endoplasmic reticulum|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|NADP binding|superoxide-generating NADPH oxidase activity	p.R519S(1)		breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						GGCTGTCGAGGAGTGTGACAA	0.557000													24	271					0	0	1	0	0
DAGLA	747	broad.mit.edu	37	11	61504654	61504654	+	Splice_Site	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr11:61504654G>T	ENST00000257215.5	+	14	1488	c.1371_splice	c.e14-1	p.G458_splice		NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN	diacylglycerol lipase, alpha	458					cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity	p.G458C(1)		breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		CGGTCTCCAGGGCCGCGGAAC	0.637000													10	20					2.27111e-07	2.55166e-07	1	1	0
IGHV1-58	28464	broad.mit.edu	37	14	107078607	107078607	+	RNA	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr14:107078607G>T	ENST00000390628.2	-	0	177																											CCTTGCAGGAGACCTTCACTG	0.557000													63	49					1.63007e-36	2.63108e-36	1	1	0
MAP2K1	5604	broad.mit.edu	37	15	66727455	66727455	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr15:66727455G>T	ENST00000307102.5	+	2	702	c.171G>T	c.(169-171)aaG>aaT	p.K57N		NM_002755.3	NP_002746.1	Q02750	MP2K1_HUMAN	mitogen-activated protein kinase kinase 1	57					activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|Ras protein signal transduction|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|plasma membrane	ATP binding|MAP kinase kinase activity|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.K57N(3)		endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(8)|urinary_tract(1)	20						TTACCCAGAAGCAGAAGGTGG	0.542000													133	428					1.13329e-80	2.07467e-80	1	1	0
TDP2	51567	broad.mit.edu	37	6	24666767	24666767	+	Missense_Mutation	SNP	C	C	T	rs143844222	by1000genomes	TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr6:24666767C>T	ENST00000378198.4	-	2	408	c.238G>A	c.(238-240)Gag>Aag	p.E80K	TDP2_ENST00000545995.1_Missense_Mutation_p.E110K|TDP2_ENST00000341060.3_5'UTR			O95551	TYDP2_HUMAN	tyrosyl-DNA phosphodiesterase 2	80					cell surface receptor linked signaling pathway|double-strand break repair	PML body	5'-tyrosyl-DNA phosphodiesterase activity|magnesium ion binding|nuclease activity|protein binding|transcription corepressor activity	p.E80K(1)		kidney(2)|large_intestine(1)|lung(5)|ovary(1)	9						GTCTTGGGCTCAGAGATGGTT	0.602000								Direct reversal of damage					22	235					0	0	1	0	0
CUL9	23113	broad.mit.edu	37	6	43166498	43166498	+	Silent	SNP	C	C	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr6:43166498C>T	ENST00000252050.4	+	12	3039	c.2955C>T	c.(2953-2955)ctC>ctT	p.L985L	CUL9_ENST00000372647.2_Silent_p.L985L|CUL9_ENST00000354495.3_Silent_p.L875L	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	985					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding	p.L985L(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						GGCCCCTCCTCAAGCGCCTCC	0.642000													24	80					0	0	1	0	0
NXPE2	120406	broad.mit.edu	37	11	114568908	114568908	+	Missense_Mutation	SNP	G	G	C			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr11:114568908G>C	ENST00000375475.5	+	3	372	c.274G>C	c.(274-276)Gac>Cac	p.D92H	NXPE2_ENST00000389586.4_Missense_Mutation_p.D92H					neurexophilin and PC-esterase domain family, member 2									p.D92H(2)									GGAGAAACTAGACCAGCAGAT	0.458000													48	160					0	0	1	0	0
OR4C13	283092	broad.mit.edu	37	11	49974893	49974893	+	Missense_Mutation	SNP	A	A	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr11:49974893A>T	ENST00000555099.1	+	1	951	c.919A>T	c.(919-921)Agt>Tgt	p.S307C		NM_001001955.2	NP_001001955.2	Q8NGP0	OR4CD_HUMAN	olfactory receptor, family 4, subfamily C, member 13	307					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S307C(1)		autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	43						AGCTATTTCAAGTGTCAAATA	0.368000													12	52					0	0	1	0	0
MCOLN2	255231	broad.mit.edu	37	1	85418191	85418191	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr1:85418191C>A	ENST00000370608.3	-	5	655	c.588G>T	c.(586-588)caG>caT	p.Q196H	MCOLN2_ENST00000284027.5_Missense_Mutation_p.Q168H|MCOLN2_ENST00000531325.1_5'UTR	NM_153259.2	NP_694991.2	Q8IZK6	MCLN2_HUMAN	mucolipin 2	196						integral to membrane	ion channel activity	p.Q196H(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	18				all cancers(265;0.0111)|Epithelial(280;0.0263)|OV - Ovarian serous cystadenocarcinoma(397;0.217)		TGGAGAGGTCCTGAAGGTCTA	0.388000													59	35					3.41413e-29	5.05503e-29	1	1	0
HMCN1	83872	broad.mit.edu	37	1	186034405	186034405	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr1:186034405G>T	ENST00000271588.4	+	49	7778	c.7549G>T	c.(7549-7551)Ggg>Tgg	p.G2517W	HMCN1_ENST00000367492.2_Missense_Mutation_p.G2517W	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	2517	Ig-like C2-type 23.				response to stimulus|visual perception	basement membrane	calcium ion binding	p.G2517W(1)		NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GCACAAAGATGGGCAGCCCCT	0.403000													11	65					0.0242445	0.0245011	1	1	0
F13A1	2162	broad.mit.edu	37	6	6197479	6197479	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr6:6197479C>A	ENST00000264870.3	-	9	1458	c.1193G>T	c.(1192-1194)aGc>aTc	p.S398I		NM_000129.3	NP_000120.2	P00488	F13A_HUMAN	coagulation factor XIII, A1 polypeptide	398					peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	p.S398I(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	CTGGGGGGTGCTGTCCACAGC	0.478000													40	98					4.75955e-12	5.76579e-12	1	1	0
RBM42	79171	broad.mit.edu	37	19	36120510	36120510	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr19:36120510G>A	ENST00000262633.4	+	2	322	c.217G>A	c.(217-219)Gaa>Aaa	p.E73K	RBM42_ENST00000588161.1_Missense_Mutation_p.E73K|RBM42_ENST00000592202.1_Missense_Mutation_p.E73K|RBM42_ENST00000360475.4_Missense_Mutation_p.E73K|RBM42_ENST00000589871.1_Missense_Mutation_p.E73K|RBM42_ENST00000589559.1_Missense_Mutation_p.E73K|RBM42_ENST00000586618.1_Missense_Mutation_p.E73K	NM_024321.3	NP_077297.2	Q9BTD8	RBM42_HUMAN	RNA binding motif protein 42	73						cytoplasm|nucleus	nucleotide binding|RNA binding	p.E73K(1)		breast(1)|endometrium(3)|large_intestine(7)|lung(9)|prostate(1)	21	all_lung(56;1.58e-07)|Lung NSC(56;2.43e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			CCCCACAGTAGAAGCGATGCA	0.587000													7	89					0	0	1	0	0
SELPLG	6404	broad.mit.edu	37	12	109017819	109017819	+	Missense_Mutation	SNP	G	G	C			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr12:109017819G>C	ENST00000388962.3	-	2	424	c.265C>G	c.(265-267)Cgt>Ggt	p.R89G	SELPLG_ENST00000228463.6_Missense_Mutation_p.R105G|SELPLG_ENST00000550948.1_Missense_Mutation_p.R89G	NM_003006.4	NP_002997.2	Q14242	SELPL_HUMAN	selectin P ligand	89					blood coagulation|cellular response to interleukin-6	integral to plasma membrane|membrane fraction	bacterial cell surface binding|receptor binding	p.R89G(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|prostate(3)|skin(1)	12						CCAGTAGAACGCCTTGCAGCA	0.582000													20	48					0	0	1	0	0
PSMD8	5714	broad.mit.edu	37	19	38873891	38873891	+	Splice_Site	SNP	A	A	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr19:38873891A>T	ENST00000215071.4	+	7	981		c.e7-1		PSMD8_ENST00000602911.1_Splice_Site	NM_002812.4	NP_002803.2	P48556	PSMD8_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 8						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	cytoplasm|nucleus|proteasome regulatory particle	protein binding	p.?(2)		central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(1)	6	all_cancers(60;3.4e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			CCTTTCCTGCAGCGAGGGTGG	0.562000													7	11					0	0	1	0	0
IGKV1-27	28935	broad.mit.edu	37	2	89513089	89513089	+	RNA	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr2:89513089C>A	ENST00000498435.1	-	0	200																											CTGCTGATACCAGGCTAAATA	0.522000													59	148					9.453e-31	1.41425e-30	1	1	0
NR1H4	9971	broad.mit.edu	37	12	100926360	100926360	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr12:100926360G>A	ENST00000548884.1	+	5	1111	c.570G>A	c.(568-570)atG>atA	p.M190I	NR1H4_ENST00000549996.1_Intron|NR1H4_ENST00000551379.1_Missense_Mutation_p.M200I|NR1H4_ENST00000392986.3_Missense_Mutation_p.M190I|NR1H4_ENST00000188403.7_Missense_Mutation_p.M200I	NM_001206977.1|NM_001206979.1|NM_005123.3	NP_001193906.1|NP_001193908.1|NP_005114.1	Q96RI1	NR1H4_HUMAN	nuclear receptor subfamily 1, group H, member 4	200					bile acid metabolic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding	p.M190I(1)|p.M200I(1)		NS(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	44						GCAAAGAGATGGGAATGTTGG	0.403000													9	279					0	0	1	0	0
PI15	51050	broad.mit.edu	37	8	75737519	75737519	+	Missense_Mutation	SNP	T	T	C			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr8:75737519T>C	ENST00000260113.2	+	2	214	c.35T>C	c.(34-36)cTg>cCg	p.L12P	PI15_ENST00000523773.1_Missense_Mutation_p.L12P|RP11-758M4.4_ENST00000523860.1_RNA|RP11-758M4.4_ENST00000518128.1_RNA	NM_015886.3	NP_056970.1	O43692	PI15_HUMAN	peptidase inhibitor 15	12						extracellular region	peptidase inhibitor activity	p.L12P(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|skin(1)	30	Breast(64;0.137)		BRCA - Breast invasive adenocarcinoma(89;0.104)|Epithelial(68;0.118)			AGTGCACTCCTGTTCTCCCTT	0.468000													157	262					0	0	1	0	0
SPATA31E1	286234	broad.mit.edu	37	9	90501607	90501607	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr9:90501607G>T	ENST00000325643.5	+	4	2271	c.2205G>T	c.(2203-2205)gaG>gaT	p.E735D		NM_178828.4	NP_849150.3			SPATA31 subfamily E, member 1									p.E735D(1)									AAGACAAGGAGGCAGAAGGTG	0.547000													41	41					4.49093e-37	7.26922e-37	1	1	0
CAGE1	285782	broad.mit.edu	37	6	7355286	7355286	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr6:7355286G>T	ENST00000502583.1	-	11	2921	c.2357C>A	c.(2356-2358)tCc>tAc	p.S786Y	CAGE1_ENST00000338150.4_Missense_Mutation_p.S751Y|CAGE1_ENST00000296742.7_Missense_Mutation_p.S588Y|CAGE1_ENST00000512086.1_Missense_Mutation_p.S724Y|CAGE1_ENST00000379918.4_Missense_Mutation_p.S764Y	NM_001170692.1	NP_001164163.1	Q8TC20	CAGE1_HUMAN	cancer antigen 1	724								p.S751Y(1)|p.S786Y(1)|p.S588Y(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|lung(11)|urinary_tract(1)	19	Ovarian(93;0.0418)					TGCAATCTGGGAGTGGGATAT	0.308000													47	57					2.92391e-54	5.0924e-54	1	1	0
SLC32A1	140679	broad.mit.edu	37	20	37357011	37357011	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr20:37357011G>T	ENST00000217420.1	+	2	1570	c.1307G>T	c.(1306-1308)cGc>cTc	p.R436L		NM_080552.2	NP_542119.1	Q9H598	VIAAT_HUMAN	solute carrier family 32 (GABA vesicular transporter), member 1	436					neurotransmitter secretion	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane	vesicular hydrogen:amino acid antiporter activity	p.R436L(1)		breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|urinary_tract(1)	38		Myeloproliferative disorder(115;0.00878)			Glycine(DB00145)	CTGACGCTGCGCTGCGCGCTC	0.677000													3	3					0.014758	0.014967	1	1	0
DISP1	84976	broad.mit.edu	37	1	223177398	223177398	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr1:223177398G>A	ENST00000284476.6	+	8	2823	c.2659G>A	c.(2659-2661)Gaa>Aaa	p.E887K		NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	887					diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity	p.E887K(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		AGAGATTTTTGAACTGTGCAT	0.478000													12	50					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7578177	7578177	+	Splice_Site	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr17:7578177C>A	ENST00000420246.2	-	6	804	c.672_splice	c.e6+1	p.E224_splice	TP53_ENST00000445888.2_Splice_Site_p.E224_splice|TP53_ENST00000359597.4_Splice_Site_p.E224_splice|TP53_ENST00000455263.2_Splice_Site_p.E224_splice|TP53_ENST00000413465.2_Splice_Site_p.E224_splice|TP53_ENST00000269305.4_Splice_Site_p.E224_splice|TP53_ENST00000574684.1_Intron	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	224	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> V (in a sporadic cancer; 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.E224D(20)|p.?(13)|p.E224E(12)|p.0?(8)|p.E131D(3)|p.E131E(2)|p.V218_E224delVPYEPPE(1)|p.V225fs*24(1)|p.E224_V225insXX(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)		CAAACCAGACCTCAGGCGGCT	0.532000		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)			31	31					6.29468e-14	7.82398e-14	1	1	0
TPTE2P2	644623	broad.mit.edu	37	13	52864028	52864028	+	RNA	SNP	C	C	T	rs138483057	by1000genomes	TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr13:52864028C>T	ENST00000451298.1	-	0	141				RP11-64P12.8_ENST00000606031.1_RNA																							TAGAATGATACTCCAAAGGAA	0.313000													5	57					0	0	1	0	0
KCTD3	51133	broad.mit.edu	37	1	215792515	215792515	+	Nonsense_Mutation	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr1:215792515G>T	ENST00000259154.4	+	17	2062	c.1768G>T	c.(1768-1770)Gaa>Taa	p.E590*	KCTD3_ENST00000495537.1_3'UTR	NM_016121.3	NP_057205.2	Q9Y597	KCTD3_HUMAN	potassium channel tetramerization domain containing 3	590						voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity	p.E590*(1)		breast(4)|endometrium(2)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)	33				all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13)		TCCAACCGAAGAAGAGCTACT	0.403000													51	157					2.5401e-28	3.75122e-28	1	1	0
ZNF35	7584	broad.mit.edu	37	3	44700712	44700712	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr3:44700712C>A	ENST00000396056.2	+	4	1092	c.857C>A	c.(856-858)gCc>gAc	p.A286D	ZNF35_ENST00000542250.1_Missense_Mutation_p.A126D|RP11-944L7.4_ENST00000457331.1_RNA|ZNF35_ENST00000296092.3_3'UTR	NM_003420.3	NP_003411.3	P13682	ZNF35_HUMAN	zinc finger protein 35	286					cellular response to retinoic acid|spermatogenesis	nucleus|perinuclear region of cytoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.A286E(1)		large_intestine(3)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	12		Ovarian(412;0.0228)		OV - Ovarian serous cystadenocarcinoma(275;2.49e-27)|KIRC - Kidney renal clear cell carcinoma(197;0.0475)|Kidney(197;0.0595)		TGTGGGAAAGCCTTCACTCAG	0.408000													43	26					7.05377e-20	9.53257e-20	1	1	0
PDCD11	22984	broad.mit.edu	37	10	105198552	105198552	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr10:105198552G>T	ENST00000369797.3	+	27	4106	c.4012G>T	c.(4012-4014)Ggt>Tgt	p.G1338C		NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11	1338	S1 motif 12.				mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding	p.G1338C(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		CCAGCCACACGGTGTGTTCTT	0.552000													13	47					1.3612e-06	1.51157e-06	1	1	0
GZF1	64412	broad.mit.edu	37	20	23345114	23345114	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr20:23345114G>A	ENST00000338121.5	+	2	171	c.94G>A	c.(94-96)Gac>Aac	p.D32N	GZF1_ENST00000377051.2_Missense_Mutation_p.D32N|GZF1_ENST00000544236.1_Intron|GZF1_ENST00000542987.1_Intron			Q9H116	GZF1_HUMAN	GDNF-inducible zinc finger protein 1	32	BTB.				transcription, DNA-dependent	nucleolus|nucleoplasm	sequence-specific DNA binding|zinc ion binding	p.D32N(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|urinary_tract(2)	24	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)					TCACCTGTGTGACGTGACAGT	0.517000													4	39					0	0	1	0	0
MAP3K15	389840	broad.mit.edu	37	X	19443781	19443781	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chrX:19443781C>T	ENST00000338883.4	-	9	1306	c.1307G>A	c.(1306-1308)aGa>aAa	p.R436K	MAP3K15_ENST00000518578.1_5'UTR|MAP3K15_ENST00000359173.3_5'UTR|MAP3K15_ENST00000469203.2_Missense_Mutation_p.R268K	NM_001001671.3	NP_001001671.3	Q6ZN16	M3K15_HUMAN	mitogen-activated protein kinase kinase kinase 15	436							ATP binding|MAP kinase kinase kinase activity|metal ion binding	p.R483K(1)|p.R483T(1)		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)					GCTCCCTTTTCTTCCCAACAA	0.433000													4	66					0	0	1	0	0
AFAP1L2	84632	broad.mit.edu	37	10	116100464	116100464	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr10:116100464C>T	ENST00000369271.3	-	2	343	c.43G>A	c.(43-45)Gat>Aat	p.D15N	AFAP1L2_ENST00000545353.1_Missense_Mutation_p.D15N|AFAP1L2_ENST00000304129.4_Missense_Mutation_p.D15N	NM_001001936.1|NM_032550.2	NP_001001936.1|NP_115939.1	Q8N4X5	AF1L2_HUMAN	actin filament associated protein 1-like 2	15					inflammatory response|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of transcription, DNA-dependent|regulation of interleukin-6 production|regulation of mitotic cell cycle	cytoplasm	protein tyrosine kinase activator activity|SH2 domain binding|SH3 domain binding	p.D33N(1)|p.D15N(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|prostate(2)	21		Colorectal(252;0.175)|Breast(234;0.231)		Epithelial(162;0.0219)|all cancers(201;0.0561)		AGGAAGTCATCCAACTCTGTC	0.547000													5	60					0	0	1	0	0
KIR3DL2	3812	broad.mit.edu	37	19	55378056	55378056	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr19:55378056G>T	ENST00000326321.3	+	9	1271	c.1238G>T	c.(1237-1239)cGc>cTc	p.R413L	KIR3DL1_ENST00000402254.2_Missense_Mutation_p.R413L|KIR3DL2_ENST00000270442.5_Missense_Mutation_p.R396L	NM_006737.3	NP_006728.2	P43630	KI3L2_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 2	413					cellular defense response|regulation of immune response	integral to plasma membrane	receptor activity	p.R413L(2)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	23				GBM - Glioblastoma multiforme(193;0.0192)		AAAATCAGTCGCCCTTCTCAG	0.517000													396	614					7.70712e-192	1.48194e-191	1	1	0
HTRA2	27429	broad.mit.edu	37	2	74759976	74759976	+	Nonsense_Mutation	SNP	T	T	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr2:74759976T>A	ENST00000258080.3	+	8	1871	c.1241T>A	c.(1240-1242)tTg>tAg	p.L414*	LOXL3_ENST00000409249.1_3'UTR|LOXL3_ENST00000264094.3_3'UTR|HTRA2_ENST00000352222.3_Nonsense_Mutation_p.L317*|HTRA2_ENST00000467961.1_3'UTR	NM_013247.4	NP_037379.1	O43464	HTRA2_HUMAN	HtrA serine peptidase 2	414	PDZ.				apoptosis|proteolysis|response to stress	CD40 receptor complex|endoplasmic reticulum membrane|internal side of plasma membrane|mitochondrial intermembrane space|mitochondrial membrane|nucleus	serine-type endopeptidase activity|unfolded protein binding	p.L414*(1)		endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	12						GATGTGATTTTGGCCATTGGG	0.498000													101	156					0	0	1	0	0
SCRN2	90507	broad.mit.edu	37	17	45915657	45915657	+	Silent	SNP	C	C	T	rs147761976	byFrequency	TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr17:45915657C>T	ENST00000407215.3	-	7	1179	c.1098G>A	c.(1096-1098)ctG>ctA	p.L366L	SCRN2_ENST00000290216.9_Silent_p.L366L|SCRN2_ENST00000584123.1_Silent_p.L374L			Q96FV2	SCRN2_HUMAN	secernin 2	366					proteolysis		dipeptidase activity	p.L366L(1)		cervix(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	14						CCATCAGCCCCAGGGCTGCCT	0.592000													3	29					0	0	1	0	0
OR52E4	390081	broad.mit.edu	37	11	5905527	5905527	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr11:5905527C>A	ENST00000316987.2	+	1	27	c.5C>A	c.(4-6)cCt>cAt	p.P2H		NM_001005165.1	NP_001005165.1	Q8NGH9	O52E4_HUMAN	olfactory receptor, family 52, subfamily E, member 4	2					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P2H(1)		autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(2)|prostate(1)|skin(2)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGGAGAATGCCTTCTATCAAT	0.423000													58	194					4.66136e-34	7.3177e-34	1	1	0
ZNF526	116115	broad.mit.edu	37	19	42729117	42729117	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr19:42729117C>T	ENST00000301215.3	+	3	787	c.562C>T	c.(562-564)Ccc>Tcc	p.P188S		NM_133444.1	NP_597701.1	Q8TF50	ZN526_HUMAN	zinc finger protein 526	188					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.P188S(1)		autonomic_ganglia(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(3)	22		Prostate(69;0.0704)				TCCACCTTCTCCCCCATCCGA	0.597000													63	96					0	0	1	0	0
CADM3	57863	broad.mit.edu	37	1	159163301	159163301	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr1:159163301C>A	ENST00000368125.4	+	4	628	c.471C>A	c.(469-471)agC>agA	p.S157R	CADM3_ENST00000368124.4_Missense_Mutation_p.S191R	NM_001127173.1	NP_001120645.1	Q8N126	CADM3_HUMAN	cell adhesion molecule 3	157	Ig-like C2-type 1.				adherens junction organization|cell junction assembly|heterophilic cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	protein homodimerization activity	p.S191R(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(20)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55	all_hematologic(112;0.0429)					CTTCTGGGAGCAAGCCTGCAG	0.512000													26	37					4.4194e-11	5.26469e-11	1	1	0
GNPTAB	79158	broad.mit.edu	37	12	102183810	102183810	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr12:102183810C>T	ENST00000299314.7	-	3	491	c.229G>A	c.(229-231)Gtt>Att	p.V77I	GNPTAB_ENST00000549940.1_Missense_Mutation_p.V77I	NM_024312.4	NP_077288.2	Q3T906	GNPTA_HUMAN	N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits	77					cell differentiation	Golgi membrane|integral to membrane|nucleus	metal ion binding|transcription factor binding|UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity	p.V77I(2)		NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	37						GTGTAAACAACGTCAATCGGC	0.428000													178	386					0	0	1	0	0
MS4A10	341116	broad.mit.edu	37	11	60558557	60558557	+	Silent	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr11:60558557G>T	ENST00000308287.1	+	3	390	c.294G>T	c.(292-294)ggG>ggT	p.G98G		NM_206893.3	NP_996776.2	Q96PG2	M4A10_HUMAN	membrane-spanning 4-domains, subfamily A, member 10	98						integral to membrane	receptor activity	p.G98G(1)		endometrium(1)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|skin(2)	21						CATTCTGGGGGGCTGCCTCTG	0.582000													31	56					1.68508e-10	1.98266e-10	1	1	0
MMP1	4312	broad.mit.edu	37	11	102666324	102666324	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr11:102666324G>T	ENST00000315274.6	-	5	707	c.640C>A	c.(640-642)Cgt>Agt	p.R214S	WTAPP1_ENST00000525739.2_RNA	NM_001145938.1|NM_002421.3	NP_001139410.1|NP_002412.1	P03956	MMP1_HUMAN	matrix metallopeptidase 1 (interstitial collagenase)	214	Metalloprotease.				blood coagulation|collagen catabolic process|interspecies interaction between organisms|leukocyte migration|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	p.R214S(1)		breast(2)|endometrium(1)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	30	all_epithelial(12;0.0127)	all_neural(303;0.000318)|all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.072)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.233)	OV - Ovarian serous cystadenocarcinoma(223;1.82e-07)|Epithelial(105;1.51e-06)|BRCA - Breast invasive adenocarcinoma(274;0.014)		GCTGCAACACGATGTAAGTTG	0.368000													11	45					6.31663e-08	7.15302e-08	1	1	0
CREG2	200407	broad.mit.edu	37	2	101967438	101967438	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr2:101967438C>A	ENST00000324768.4	-	4	957	c.820G>T	c.(820-822)Gca>Tca	p.A274S		NM_153836.3	NP_722578.1	Q8IUH2	CREG2_HUMAN	cellular repressor of E1A-stimulated genes 2	274						extracellular region	FMN binding	p.A274S(1)		endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	10						ATACTGGATGCGCCTCCATAC	0.443000													41	83					1.06522e-23	1.51457e-23	1	1	0
PANX1	24145	broad.mit.edu	37	11	93862607	93862607	+	Silent	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr11:93862607G>T	ENST00000227638.3	+	1	514	c.129G>T	c.(127-129)gtG>gtT	p.V43V	PANX1_ENST00000436171.2_Silent_p.V43V	NM_015368.3	NP_056183.2	Q96RD7	PANX1_HUMAN	pannexin 1	43					positive regulation of interleukin-1 beta secretion|protein hexamerization|synaptic transmission	bleb|endoplasmic reticulum membrane|gap junction|integral to membrane	calcium channel activity|gap junction hemi-channel activity|leak channel activity|receptor binding	p.V43V(1)		endometrium(2)|large_intestine(2)|lung(13)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				GCATTGCGGTGGGGCTGCCCC	0.647000													5	13					0.00621372	0.0064037	1	1	0
MSRB3	253827	broad.mit.edu	37	12	65857034	65857034	+	Missense_Mutation	SNP	A	A	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr12:65857034A>T	ENST00000308259.5	+	7	764	c.490A>T	c.(490-492)Agc>Tgc	p.S164C	MSRB3_ENST00000355192.3_Missense_Mutation_p.S171C|MSRB3_ENST00000535664.1_Missense_Mutation_p.S164C	NM_001031679.2|NM_001193460.1	NP_001026849.1|NP_001180389.1	Q8IXL7	MSRB3_HUMAN	methionine sulfoxide reductase B3	171					protein repair	endoplasmic reticulum|mitochondrion	peptide-methionine-(S)-S-oxide reductase activity|protein-methionine-R-oxide reductase activity|zinc ion binding	p.S164C(1)|p.S171C(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)	13			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.131)		ACCTGCGGATAGCAGTGGCAC	0.547000													29	60					0	0	1	0	0
FAM214A	56204	broad.mit.edu	37	15	52902041	52902041	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr15:52902041C>A	ENST00000261844.7	-	6	1222	c.1070G>T	c.(1069-1071)gGt>gTt	p.G357V	FAM214A_ENST00000546305.2_Missense_Mutation_p.G364V	NM_019600.2	NP_062546.2	Q32MH5	K1370_HUMAN	family with sequence similarity 214, member A	357								p.G357V(1)									GTTAGTCTCACCAGCTGACTG	0.388000													11	15					1.3612e-06	1.51157e-06	1	1	0
XYLT1	64131	broad.mit.edu	37	16	17221699	17221699	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr16:17221699G>T	ENST00000261381.6	-	10	2131	c.2047C>A	c.(2047-2049)Cca>Aca	p.P683T		NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	683					glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity	p.P683T(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						ACAGATGCTGGGTGGCCCATT	0.527000													82	81					1.63847e-34	2.58634e-34	1	1	0
PCDHB6	56130	broad.mit.edu	37	5	140531538	140531538	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr5:140531538C>A	ENST00000231136.1	+	1	1700	c.1700C>A	c.(1699-1701)tCc>tAc	p.S567Y	PCDHB6_ENST00000543635.1_Missense_Mutation_p.S431Y	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN		567	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	p.S567Y(1)		cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CAGAACGGCTCCGCGCCCTGC	0.721000													4	6					0.000602214	0.000628541	1	1	0
XIRP2	129446	broad.mit.edu	37	2	168101224	168101224	+	Nonsense_Mutation	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr2:168101224G>T	ENST00000409195.1	+	9	3411	c.3322G>T	c.(3322-3324)Gaa>Taa	p.E1108*	XIRP2_ENST00000295237.9_Nonsense_Mutation_p.E1108*|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409273.1_Nonsense_Mutation_p.E886*|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409756.2_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	933					actin cytoskeleton organization	cell junction	actin binding	p.E1108*(1)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GTCTCTTTATGAAAAAGTTTC	0.363000													16	39					4.63292e-17	6.00603e-17	1	1	0
IL12A-AS1	101928376	broad.mit.edu	37	3	159818741	159818741	+	RNA	SNP	C	C	G	rs111620918	by1000genomes	TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr3:159818741C>G	ENST00000497452.1	-	0	517																											AACGAAGTCACCGAACTCTCC	0.493000													3	14					0	0	1	0	0
GLI3	2737	broad.mit.edu	37	7	42063147	42063147	+	Nonsense_Mutation	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr7:42063147C>A	ENST00000395925.3	-	10	1501	c.1417G>T	c.(1417-1419)Gag>Tag	p.E473*	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	473					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	p.E473*(1)		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						ACTTCAGGCTCCTGTTTGCTT	0.547000									Pallister-Hall syndrome;Greig Cephalopolysyndactyly				41	51					6.17242e-35	9.79721e-35	1	1	0
KIAA1429	25962	broad.mit.edu	37	8	95522735	95522735	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr8:95522735C>A	ENST00000297591.5	-	14	3611	c.3536G>T	c.(3535-3537)cGt>cTt	p.R1179L	KIAA1429_ENST00000437199.1_Missense_Mutation_p.R1179L|KIAA1429_ENST00000523405.1_Intron	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	1179					mRNA processing|RNA splicing	nucleus		p.R1179L(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			AACACAAATACGCCGTAACAT	0.423000													73	133					1.32003e-40	2.17977e-40	1	1	0
GTF2H1	2965	broad.mit.edu	37	11	18380137	18380137	+	Nonsense_Mutation	SNP	C	C	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr11:18380137C>T	ENST00000265963.4	+	13	1577	c.1417C>T	c.(1417-1419)Cga>Tga	p.R473*	GTF2H1_ENST00000453096.2_Nonsense_Mutation_p.R473*|GTF2H1_ENST00000534641.1_Nonsense_Mutation_p.R357*|GTF2H1_ENST00000526630.2_Nonsense_Mutation_p.R63*|GTF2H1_ENST00000530496.2_Nonsense_Mutation_p.R161*	NM_005316.3	NP_005307.1	P32780	TF2H1_HUMAN	general transcription factor IIH, polypeptide 1, 62kDa	473					mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|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|viral reproduction	holo TFIIH complex	protein binding	p.R473*(1)		endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	20						AGAACTTCTACGACATTTCTG	0.398000								Nucleotide excision repair (NER)					45	140					0	0	1	0	0
CKAP4	10970	broad.mit.edu	37	12	106633077	106633077	+	Missense_Mutation	SNP	T	T	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr12:106633077T>A	ENST00000378026.4	-	2	1670	c.1534A>T	c.(1534-1536)Acg>Tcg	p.T512S		NM_006825.3	NP_006816.2	Q07065	CKAP4_HUMAN	cytoskeleton-associated protein 4	512						ER-Golgi intermediate compartment membrane|integral to membrane|membrane fraction		p.T512S(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|pancreas(1)|urinary_tract(1)	20						CTGAGCAGCGTGTGCACCTGC	0.607000													19	27					0	0	1	0	0
ZNF254	9534	broad.mit.edu	37	19	24309689	24309689	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr19:24309689G>T	ENST00000357002.4	+	4	1002	c.887G>T	c.(886-888)tGt>tTt	p.C296F	ZNF254_ENST00000342944.6_Missense_Mutation_p.C211F	NM_001278661.1|NM_001278662.1|NM_001278664.1|NM_001278677.1|NM_001278678.1|NM_203282.2	NP_001265590.1|NP_001265591.1|NP_001265593.1|NP_001265606.1|NP_001265607.1|NP_975011.3	O75437	ZN254_HUMAN	zinc finger protein 254	296					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.C296F(1)					all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)				CCTTACAAGTGTGAAGAATGT	0.363000													37	86					5.20006e-24	7.41203e-24	1	1	0
SLC24A4	123041	broad.mit.edu	37	14	92959901	92959901	+	Missense_Mutation	SNP	T	T	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr14:92959901T>A	ENST00000532405.1	+	17	2024	c.1798T>A	c.(1798-1800)Tgc>Agc	p.C600S	SLC24A4_ENST00000531433.1_Missense_Mutation_p.C581S|SLC24A4_ENST00000298877.1_Missense_Mutation_p.C583S|SLC24A4_ENST00000393265.2_Missense_Mutation_p.C536S|SLC24A4_ENST00000351924.5_Missense_Mutation_p.C564S			Q8NFF2	NCKX4_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 4	600						integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity	p.C583S(1)		breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(20)|ovary(2)|skin(1)	36		all_cancers(154;0.0347)|all_epithelial(191;0.163)		Colorectal(1;0.00242)|COAD - Colon adenocarcinoma(157;0.047)|Epithelial(152;0.0781)|READ - Rectum adenocarcinoma(1;0.176)|all cancers(159;0.182)		CATCTTCTTGTGCTTCTCCAT	0.552000													12	34					0	0	1	0	0
C14orf177	283598	broad.mit.edu	37	14	99182659	99182659	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr14:99182659C>T	ENST00000325812.2	+	3	550	c.131C>T	c.(130-132)tCt>tTt	p.S44F		NM_182560.2	NP_872366.2	Q52M58	CN177_HUMAN	chromosome 14 open reading frame 177	44								p.S44F(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(10)	13		Melanoma(154;0.128)				TGCCCAAGTTCTCAGCACCTG	0.532000													48	81					0	0	1	0	0
GRIN2A	2903	broad.mit.edu	37	16	9943739	9943739	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr16:9943739G>T	ENST00000396573.2	-	6	1511	c.1202C>A	c.(1201-1203)cCg>cAg	p.P401Q	GRIN2A_ENST00000330684.3_Missense_Mutation_p.P401Q|GRIN2A_ENST00000396575.2_Missense_Mutation_p.P401Q|GRIN2A_ENST00000404927.2_Missense_Mutation_p.P401Q|GRIN2A_ENST00000562109.1_Missense_Mutation_p.P401Q|GRIN2A_ENST00000535259.1_Missense_Mutation_p.P244Q	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	401					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	p.P401Q(1)		NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GTTGTCATCCGGCTCACAGTC	0.587000													73	154					2.9056e-39	4.77052e-39	1	1	0
ARRDC4	91947	broad.mit.edu	37	15	98512352	98512352	+	Splice_Site	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr15:98512352G>T	ENST00000268042.6	+	5	789		c.e5-1		ARRDC4_ENST00000538249.1_Splice_Site	NM_183376.2	NP_899232.2	Q8NCT1	ARRD4_HUMAN	arrestin domain containing 4						signal transduction			p.?(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|skin(3)	16	Melanoma(26;0.00539)|Lung NSC(78;0.0125)|all_lung(78;0.0222)		OV - Ovarian serous cystadenocarcinoma(32;0.0417)			TTTCTTTTTAGGAGAAGCTAT	0.393000													9	18					5.50884e-06	5.98968e-06	1	1	0
OR4C13	283092	broad.mit.edu	37	11	49974394	49974394	+	Silent	SNP	C	C	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr11:49974394C>T	ENST00000555099.1	+	1	452	c.420C>T	c.(418-420)agC>agT	p.S140S		NM_001001955.2	NP_001001955.2	Q8NGP0	OR4CD_HUMAN	olfactory receptor, family 4, subfamily C, member 13	140					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S140S(1)		autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	43						ATGTTTGTAGCCTGCTAGTGG	0.468000													136	144					0	0	1	0	0
ATXN2L	11273	broad.mit.edu	37	16	28844674	28844674	+	Splice_Site	SNP	G	G	C			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr16:28844674G>C	ENST00000336783.4	+	14	2121	c.1955_splice	c.e14+1	p.E652_splice	ATXN2L_ENST00000395547.2_Splice_Site_p.E652_splice|ATXN2L_ENST00000570200.1_Splice_Site_p.E652_splice|ATXN2L_ENST00000340394.8_Splice_Site_p.E652_splice|RP11-24N18.1_ENST00000563565.1_RNA|ATXN2L_ENST00000382686.4_Splice_Site_p.E652_splice|ATXN2L_ENST00000325215.6_Splice_Site_p.E652_splice|ATXN2L_ENST00000564304.1_Splice_Site_p.E658_splice|ATXN2L_ENST00000565845.1_3'UTR	NM_007245.3	NP_009176.2	Q8WWM7	ATX2L_HUMAN	ataxin 2-like	652						membrane		p.E652Q(2)		breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						CCCTGTTGCTGAGTGAGTGGA	0.577000													12	19					0	0	1	0	0
ARHGAP10	79658	broad.mit.edu	37	4	148876486	148876486	+	Missense_Mutation	SNP	A	A	G			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr4:148876486A>G	ENST00000336498.3	+	16	1650	c.1411A>G	c.(1411-1413)Atg>Gtg	p.M471V	ARHGAP10_ENST00000414545.2_Missense_Mutation_p.M120V	NM_024605.3	NP_078881.3	A1A4S6	RHG10_HUMAN	Rho GTPase activating protein 10	471	Rho-GAP.				apoptosis|filopodium assembly|regulation of apoptosis|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm|plasma membrane	cytoskeletal adaptor activity|SH3 domain binding	p.M471V(1)		autonomic_ganglia(2)|endometrium(5)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33	all_hematologic(180;0.151)	Renal(17;0.0166)		GBM - Glioblastoma multiforme(119;0.0423)		AGAGCCTCTCATGACCTATGA	0.348000													71	256					0	0	1	0	0
WDR16	146845	broad.mit.edu	37	17	9546400	9546400	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr17:9546400G>A	ENST00000352665.5	+	14	1817	c.1748G>A	c.(1747-1749)gGg>gAg	p.G583E	WDR16_ENST00000396219.3_Missense_Mutation_p.G515E|RP11-55L4.2_ENST00000584676.1_RNA|WDR16_ENST00000299764.5_Missense_Mutation_p.G593E	NM_145054.4	NP_659491.4	Q8N1V2	WDR16_HUMAN	WD repeat domain 16	583						cytoplasm|intracellular membrane-bounded organelle	protein binding	p.G583E(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31						ACTCACGTTGGGGTGGGACAC	0.443000													5	57					0	0	1	0	0
GRIA1	2890	broad.mit.edu	37	5	153030061	153030061	+	Missense_Mutation	SNP	C	C	G			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr5:153030061C>G	ENST00000285900.5	+	4	975	c.632C>G	c.(631-633)gCt>gGt	p.A211G	GRIA1_ENST00000340592.5_Missense_Mutation_p.A211G|GRIA1_ENST00000518142.1_Missense_Mutation_p.A131G|GRIA1_ENST00000518862.1_3'UTR|GRIA1_ENST00000518783.1_Missense_Mutation_p.A221G|GRIA1_ENST00000521843.2_Missense_Mutation_p.A142G|GRIA1_ENST00000448073.4_Missense_Mutation_p.A221G	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	211					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding	p.A211G(2)		NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	CGCCTCAATGCTATCTTGGGC	0.527000													48	56					0	0	1	0	0
ADD3	120	broad.mit.edu	37	10	111872586	111872586	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr10:111872586C>T	ENST00000277900.8	+	3	612	c.247C>T	c.(247-249)Cac>Tac	p.H83Y	ADD3_ENST00000360162.3_Missense_Mutation_p.H83Y|ADD3_ENST00000356080.4_Missense_Mutation_p.H83Y|ADD3_ENST00000497125.1_3'UTR	NM_001121.2	NP_001112.2	Q9UEY8	ADDG_HUMAN	adducin 3 (gamma)	83						cytoskeleton	actin binding|calmodulin binding|metal ion binding|structural constituent of cytoskeleton	p.H83Y(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	29		Breast(234;0.052)|Lung NSC(174;0.223)		Epithelial(162;4.15e-05)|all cancers(201;0.000587)|BRCA - Breast invasive adenocarcinoma(275;0.0742)		GAAGAAAGGCCACAACCCAAC	0.418000													70	69					0	0	1	0	0
TREML2	79865	broad.mit.edu	37	6	41162245	41162245	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr6:41162245G>A	ENST00000483722.1	-	3	888	c.703C>T	c.(703-705)Ctc>Ttc	p.L235F		NM_024807.2	NP_079083.2	Q5T2D2	TRML2_HUMAN	triggering receptor expressed on myeloid cells-like 2	235					T cell activation	cell surface|integral to membrane|plasma membrane	protein binding|receptor activity	p.L294F(1)		breast(1)|central_nervous_system(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)	18	Ovarian(28;0.0418)|Colorectal(47;0.196)					CTGGTGCTGAGGTCCCCAGAC	0.622000													8	9					0	0	1	0	0
F2	2147	broad.mit.edu	37	11	46760614	46760614	+	Silent	SNP	A	A	G			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr11:46760614A>G	ENST00000311907.5	+	13	1727	c.1671A>G	c.(1669-1671)gaA>gaG	p.E557E	F2_ENST00000530231.1_Silent_p.E518E	NM_000506.3	NP_000497.1	P00734	THRB_HUMAN	coagulation factor II (thrombin)	557	High affinity receptor-binding region which is also known as the TP508 peptide.|Peptidase S1.				activation of caspase activity|acute-phase response|blood coagulation, intrinsic pathway|cell surface receptor linked signaling pathway|cytosolic calcium ion homeostasis|fibrinolysis|leukocyte migration|negative regulation of astrocyte differentiation|negative regulation of fibrinolysis|negative regulation of platelet activation|negative regulation of proteolysis|peptidyl-glutamic acid carboxylation|platelet activation|positive regulation of collagen biosynthetic process|positive regulation of protein phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of release of sequestered calcium ion into cytosol|post-translational protein modification|proteolysis|STAT protein import into nucleus|tyrosine phosphorylation of STAT protein	cytosol|endoplasmic reticulum lumen|extracellular space|Golgi lumen|plasma membrane|soluble fraction	calcium ion binding|growth factor activity|serine-type endopeptidase activity|thrombospondin receptor activity	p.E557E(1)		endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	27		all_lung(304;0.000414)|Lung NSC(402;0.0011)		BRCA - Breast invasive adenocarcinoma(625;0.146)	Antihemophilic Factor(DB00025)|Argatroban(DB00278)|Bivalirudin(DB00006)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)|Enoxaparin(DB01225)|Heparin(DB01109)|Lepirudin(DB00001)|Menadione(DB00170)|Proflavine(DB01123)|Simvastatin(DB00641)|Suramin(DB04786)|Warfarin(DB00682)|Ximelagatran(DB04898)	AGCCTGATGAAGGGAAACGAG	0.552000													6	148					0	0	1	0	0
NR1H2	7376	broad.mit.edu	37	19	50885781	50885781	+	Silent	SNP	G	G	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr19:50885781G>A	ENST00000542413.1	+	14	1925	c.498G>A	c.(496-498)tcG>tcA	p.S166S	NR1H2_ENST00000411902.2_Silent_p.S338S|NR1H2_ENST00000593926.1_Silent_p.S435S|NR1H2_ENST00000599105.1_Silent_p.S391S|NR1H2_ENST00000253727.5_Silent_p.S435S|NR1H2_ENST00000598168.1_Silent_p.S405S			P55055	NR1H2_HUMAN	nuclear receptor subfamily 1, group H, member 2	435					negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of lipid transport|negative regulation of pinocytosis|negative regulation of transcription, DNA-dependent|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of triglyceride biosynthetic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding	p.S435S(1)		endometrium(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(2)	8		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186)		CTGTGCACTCGGAGCAGGTCT	0.672000													3	5					0	0	1	0	0
PIEZO2	63895	broad.mit.edu	37	18	10671622	10671622	+	Nonsense_Mutation	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr18:10671622C>A	ENST00000302079.6	-	51	7971	c.7972G>T	c.(7972-7974)Gga>Tga	p.G2658*	PIEZO2_ENST00000538948.1_Nonsense_Mutation_p.G678*|PIEZO2_ENST00000503781.3_Nonsense_Mutation_p.G2721*|PIEZO2_ENST00000580640.1_Nonsense_Mutation_p.G2746*|PIEZO2_ENST00000285141.4_Nonsense_Mutation_p.G513*			Q9H5I5	PIEZ2_HUMAN	piezo-type mechanosensitive ion channel component 2	2721						integral to membrane	ion channel activity	p.G2721*(1)|p.G513*(1)									TCCAGTTCTCCTGTCTCTCGA	0.363000													19	51					7.41877e-09	8.51895e-09	1	1	0
SLC12A1	6557	broad.mit.edu	37	15	48500154	48500154	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr15:48500154G>T	ENST00000396577.3	+	2	453	c.238G>T	c.(238-240)Gct>Tct	p.A80S	SLC12A1_ENST00000561031.1_Missense_Mutation_p.A80S|SLC12A1_ENST00000380993.3_Missense_Mutation_p.A80S|SLC12A1_ENST00000330289.6_Missense_Mutation_p.A80S|SLC12A1_ENST00000558405.1_Missense_Mutation_p.A80S	NM_001184832.1	NP_001171761.1	Q13621	S12A1_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 1	80					potassium ion transport|sodium ion transport	integral to membrane|membrane fraction	sodium:potassium:chloride symporter activity	p.A80S(2)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1)	59		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021)	TGGAGAAACTGCTAAAACAGA	0.428000													21	57					3.7963e-18	4.97776e-18	1	1	0
DLEC1	9940	broad.mit.edu	37	3	38104226	38104226	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr3:38104226C>T	ENST00000308059.6	+	5	1049	c.1028C>T	c.(1027-1029)tCt>tTt	p.S343F	DLEC1_ENST00000452631.2_Missense_Mutation_p.S343F|DLEC1_ENST00000346219.3_Missense_Mutation_p.S343F			Q9Y238	DLEC1_HUMAN	deleted in lung and esophageal cancer 1	343					negative regulation of cell proliferation	cytoplasm		p.S343F(2)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		GGAGGCAAGTCTCTTGTTTTT	0.458000													18	12					0	0	1	0	0
ZNF585B	92285	broad.mit.edu	37	19	37676497	37676497	+	Missense_Mutation	SNP	T	T	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr19:37676497T>A	ENST00000532828.2	-	5	2193	c.1942A>T	c.(1942-1944)Aat>Tat	p.N648Y	CTC-454I21.3_ENST00000585860.2_Intron|ZNF585B_ENST00000312908.5_Missense_Mutation_p.N236Y|ZNF585B_ENST00000531805.1_Missense_Mutation_p.N593Y|ZNF585B_ENST00000527838.1_3'UTR	NM_152279.3	NP_689492.3	Q52M93	Z585B_HUMAN	zinc finger protein 585B	648					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	p.N648Y(1)		NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TTACTGAGATTTGACCTGCCA	0.473000													18	25					0	0	1	0	0
COQ4	51117	broad.mit.edu	37	9	131087468	131087468	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr9:131087468G>T	ENST00000300452.3	+	3	572	c.249G>T	c.(247-249)aaG>aaT	p.K83N	COQ4_ENST00000372875.3_Missense_Mutation_p.K83N	NM_016035.3	NP_057119.2	Q9Y3A0	COQ4_HUMAN	coenzyme Q4	83					ubiquinone biosynthetic process	mitochondrial inner membrane		p.K83N(1)		endometrium(4)|large_intestine(1)|lung(4)	9						GCACCCTGAAGGTCCTCAGGG	0.567000													17	26					6.94344e-10	8.10304e-10	1	1	0
KCNK9	51305	broad.mit.edu	37	8	140631035	140631035	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr8:140631035C>A	ENST00000520439.1	-	2	654	c.591G>T	c.(589-591)ttG>ttT	p.L197F	KCNK9_ENST00000303015.1_Missense_Mutation_p.L197F			Q9NPC2	KCNK9_HUMAN	potassium channel, subfamily K, member 9	197						integral to membrane|membrane fraction	potassium channel activity|voltage-gated ion channel activity	p.L197F(1)		NS(1)|endometrium(9)|kidney(1)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)	43	all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;0.134)	BRCA - Breast invasive adenocarcinoma(115;0.0855)			CAATGGTAGTCAACGTGATGA	0.577000													29	72					1.8613e-05	2.00852e-05	1	1	0
EBF3	253738	broad.mit.edu	37	10	131671816	131671816	+	Silent	SNP	G	G	T	rs150383257		TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr10:131671816G>T	ENST00000368648.3	-	8	753	c.681C>A	c.(679-681)gcC>gcA	p.A227A	EBF3_ENST00000355311.5_Silent_p.A227A	NM_001005463.2	NP_001005463.1	Q9H4W6	COE3_HUMAN	early B-cell factor 3	227					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding|protein binding	p.A227A(2)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	44		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)		OV - Ovarian serous cystadenocarcinoma(35;0.00513)		TGTCTGACACGGCCAGCACGT	0.522000													14	24					2.35188e-11	2.81342e-11	1	1	0
MUC16	94025	broad.mit.edu	37	19	9074611	9074611	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr19:9074611G>T	ENST00000397910.4	-	3	13038	c.12835C>A	c.(12835-12837)Cac>Aac	p.H4279N		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4281	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.H4279N(2)		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						CCCATGATGTGGGAGGTAACC	0.498000													214	80					1.3228e-122	2.47701e-122	1	1	0
ABCB5	340273	broad.mit.edu	37	7	20698196	20698196	+	Missense_Mutation	SNP	T	T	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr7:20698196T>A	ENST00000404938.2	+	14	2256	c.1604T>A	c.(1603-1605)aTt>aAt	p.I535N	ABCB5_ENST00000258738.6_Missense_Mutation_p.I90N|ABCB5_ENST00000443026.2_Missense_Mutation_p.I90N|ABCB5_ENST00000406935.1_Missense_Mutation_p.I90N	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	90	ABC transmembrane type-1.				regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity	p.I90N(2)|p.I535N(1)		breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						AGGATCGCAATTGCTCGTGCC	0.438000													33	145					0	0	1	0	0
SH3RF2	153769	broad.mit.edu	37	5	145393468	145393468	+	Silent	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr5:145393468C>A	ENST00000511217.1	+	4	955	c.903C>A	c.(901-903)atC>atA	p.I301I	SH3RF2_ENST00000359120.4_Silent_p.I301I			Q8TEC5	SH3R2_HUMAN	SH3 domain containing ring finger 2	301							ligase activity|protein phosphatase 1 binding|zinc ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGTTTTCCATCACAACAGCCT	0.577000													108	430					5.01931e-35	8.0337e-35	1	1	0
PIEZO2	63895	broad.mit.edu	37	18	10672706	10672706	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr18:10672706C>T	ENST00000302079.6	-	50	7797	c.7798G>A	c.(7798-7800)Ggg>Agg	p.G2600R	PIEZO2_ENST00000538948.1_Missense_Mutation_p.G620R|PIEZO2_ENST00000503781.3_Missense_Mutation_p.G2663R|PIEZO2_ENST00000580640.1_Missense_Mutation_p.G2688R|PIEZO2_ENST00000285141.4_Missense_Mutation_p.G455R|PIEZO2_ENST00000581680.1_5'UTR			Q9H5I5	PIEZ2_HUMAN	piezo-type mechanosensitive ion channel component 2	2663						integral to membrane	ion channel activity	p.G2663R(1)|p.G455R(1)									GCCAGGAACCCCAGACTTGGG	0.463000													8	139					0	0	1	0	0
OR2M4	26245	broad.mit.edu	37	1	248402554	248402554	+	Silent	SNP	T	T	C			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr1:248402554T>C	ENST00000306687.1	+	1	324	c.324T>C	c.(322-324)ctT>ctC	p.L108L		NM_017504.1	NP_059974.1	Q96R27	OR2M4_HUMAN	olfactory receptor, family 2, subfamily M, member 4	108					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L108L(1)		NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(27)|skin(3)|upper_aerodigestive_tract(2)	50	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			TGTCCCTGCTTGGAGCTGAAT	0.463000													56	88					0	0	1	0	0
ERVW-1	30816	broad.mit.edu	37	7	92098549	92098549	+	Nonsense_Mutation	SNP	G	G	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr7:92098549G>A	ENST00000493463.2	-	1	2070	c.1147C>T	c.(1147-1149)Cga>Tga	p.R383*	ERVW-1_ENST00000603053.1_Nonsense_Mutation_p.R383*|ERVW-1_ENST00000604270.1_Intron|AC007566.10_ENST00000427458.1_RNA	NM_014590.3	NP_055405.3	Q9UQF0	ENW1_HUMAN		383	Immunosuppression (By similarity).				syncytium formation	integral to membrane|plasma membrane|virion		p.R383*(1)		endometrium(1)|large_intestine(1)|lung(15)	17						aaagctcttcgattttgaagg	0.448000													5	7					0	0	1	0	0
SCNN1A	6337	broad.mit.edu	37	12	6463650	6463650	+	Silent	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr12:6463650C>A	ENST00000358945.3	-	7	1754	c.1314G>T	c.(1312-1314)cgG>cgT	p.R438R	SCNN1A_ENST00000228916.2_Silent_p.R438R|SCNN1A_ENST00000540037.1_Silent_p.R138R|SCNN1A_ENST00000360168.3_Silent_p.R497R|SCNN1A_ENST00000538979.1_5'UTR|SCNN1A_ENST00000543768.1_Silent_p.R461R|SCNN1A_ENST00000396966.2_Silent_p.R438R			P37088	SCNNA_HUMAN	sodium channel, non-voltage-gated 1 alpha subunit	438					excretion|response to stimulus|sensory perception of taste	apical plasma membrane	WW domain binding	p.R438R(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(2)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	27					Amiloride(DB00594)|Triamterene(DB00384)	CGTTCTGGGGCCGCGGATAGA	0.587000													21	16					1.16021e-09	1.34848e-09	1	1	0
MFSD8	256471	broad.mit.edu	37	4	128863280	128863280	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr4:128863280C>A	ENST00000296468.3	-	6	600	c.473G>T	c.(472-474)gGt>gTt	p.G158V	MFSD8_ENST00000513559.1_Missense_Mutation_p.G113V|MFSD8_ENST00000541133.1_Missense_Mutation_p.G113V|MFSD8_ENST00000515130.1_5'UTR	NM_152778.2	NP_689991.1	Q8NHS3	MFSD8_HUMAN	major facilitator superfamily domain containing 8	158					cell death|transmembrane transport	integral to membrane|lysosomal membrane		p.G158F(1)		cervix(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)	23						GGAAGTAGCACCAGCAGTATA	0.358000													54	96					1.53134e-21	2.11435e-21	1	1	0
TMLHE	55217	broad.mit.edu	37	X	154774874	154774874	+	Missense_Mutation	SNP	T	T	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chrX:154774874T>A	ENST00000334398.3	-	2	209	c.64A>T	c.(64-66)Ata>Tta	p.I22L	TMLHE-AS1_ENST00000452506.1_RNA|TMLHE_ENST00000369439.4_Missense_Mutation_p.I22L	NM_018196.3	NP_060666.1	Q9NVH6	TMLH_HUMAN	trimethyllysine hydroxylase, epsilon	22					carnitine biosynthetic process	mitochondrial matrix	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|trimethyllysine dioxygenase activity	p.I22L(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	20	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Succinic acid(DB00139)|Vitamin C(DB00126)	GCCGGATATATGACTCCTCCC	0.468000													126	511					0	0	1	0	0
FCRL5	83416	broad.mit.edu	37	1	157516811	157516811	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr1:157516811C>A	ENST00000361835.3	-	3	386	c.229G>T	c.(229-231)Gtt>Ttt	p.V77F	FCRL5_ENST00000368189.3_Missense_Mutation_p.V77F|FCRL5_ENST00000368190.3_Missense_Mutation_p.V77F|FCRL5_ENST00000368188.2_Missense_Mutation_p.V77F|FCRL5_ENST00000356953.4_Missense_Mutation_p.V77F|FCRL5_ENST00000368191.3_Intron	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	77	Ig-like C2-type 1.					integral to membrane|plasma membrane	receptor activity	p.V77F(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				GATTCCTGAACCTCAAGGATA	0.483000													21	34					0.000229342	0.000241568	1	1	0
CDH23	64072	broad.mit.edu	37	10	73544838	73544838	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr10:73544838C>T	ENST00000224721.6	+	42	5713	c.5708C>T	c.(5707-5709)gCc>gTc	p.A1903V		NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	1898	Cadherin 18.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding	p.A1903V(1)		NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						CGCGAGCGGGCCTTCTTCATC	0.597000													17	26					0	0	1	0	0
OR2G2	81470	broad.mit.edu	37	1	247752207	247752207	+	Silent	SNP	C	C	T	rs146695930	byFrequency	TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr1:247752207C>T	ENST00000320065.1	+	1	546	c.546C>T	c.(544-546)tgC>tgT	p.C182C	RP11-978I15.10_ENST00000435333.1_RNA|RP11-978I15.10_ENST00000446347.1_RNA	NM_001001915.1	NP_001001915.1	Q8NGZ5	OR2G2_HUMAN	olfactory receptor, family 2, subfamily G, member 2	182					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.C182C(2)		endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			ATTTCATCTGCGAGGTCCCTG	0.537000													92	273					0	0	1	0	0
ANK1	286	broad.mit.edu	37	8	41552150	41552150	+	Missense_Mutation	SNP	G	G	C			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr8:41552150G>C	ENST00000396942.1	-	28	3370	c.3287C>G	c.(3286-3288)cCg>cGg	p.P1096R	ANK1_ENST00000289734.7_Missense_Mutation_p.P1096R|ANK1_ENST00000265709.8_Missense_Mutation_p.P1137R|ANK1_ENST00000396945.1_Missense_Mutation_p.P1096R|ANK1_ENST00000347528.4_Missense_Mutation_p.P1096R|ANK1_ENST00000379758.2_Missense_Mutation_p.P1096R|ANK1_ENST00000352337.4_Missense_Mutation_p.P1096R			P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	1096					axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton	p.P1096L(1)|p.P1137L(1)|p.P1137R(1)|p.P1096R(1)		breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			GGCATTCTCCGGGAACGTTGC	0.632000													7	4					0	0	1	0	0
NWD1	284434	broad.mit.edu	37	19	16925914	16925914	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr19:16925914C>A	ENST00000552788.1	+	18	4469	c.4469C>A	c.(4468-4470)cCc>cAc	p.P1490H	NWD1_ENST00000339803.6_Missense_Mutation_p.P1355H|NWD1_ENST00000523826.1_Missense_Mutation_p.P1284H|NWD1_ENST00000379808.3_3'UTR|NWD1_ENST00000549814.1_Missense_Mutation_p.P1448H|NWD1_ENST00000524140.2_3'UTR			Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	1490							ATP binding	p.P1355H(1)		NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						TTCATTGCCCCCACCAGGCAT	0.507000													107	17					2.46087e-49	4.22178e-49	1	1	0
PAM	5066	broad.mit.edu	37	5	102343170	102343170	+	Missense_Mutation	SNP	G	G	T	rs148652099		TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr5:102343170G>T	ENST00000438793.3	+	19	2494	c.2024G>T	c.(2023-2025)gGg>gTg	p.G675V	PAM_ENST00000274392.9_Missense_Mutation_p.G578V|PAM_ENST00000346918.2_Missense_Mutation_p.G675V|PAM_ENST00000379787.4_Missense_Mutation_p.G55V|PAM_ENST00000304400.7_Missense_Mutation_p.G675V|PAM_ENST00000455264.2_Missense_Mutation_p.G675V|PAM_ENST00000348126.2_Missense_Mutation_p.G568V	NM_000919.3|NM_001177306.1|NM_138766.2	NP_000910.2|NP_001170777.1|NP_620121.1	P19021	AMD_HUMAN	peptidylglycine alpha-amidating monooxygenase	675	Peptidyl-alpha-hydroxyglycine alpha- amidating lyase (By similarity).				peptide metabolic process|protein modification process	extracellular region|integral to membrane|stored secretory granule	L-ascorbic acid binding|peptidylamidoglycolate lyase activity|peptidylglycine monooxygenase activity|protein binding	p.G675V(2)		endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	25		all_cancers(142;3.12e-07)|all_epithelial(76;3.48e-10)|Prostate(80;0.00914)|Lung NSC(167;0.0213)|Ovarian(225;0.024)|Colorectal(57;0.0251)|all_lung(232;0.0284)		Epithelial(69;1.1e-13)|COAD - Colon adenocarcinoma(37;0.0127)	Vitamin C(DB00126)	GAGTCTTCAGGGAGCAGTCCT	0.438000													28	66					2.05212e-20	2.79303e-20	1	1	0
FLG2	388698	broad.mit.edu	37	1	152329021	152329021	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr1:152329021G>A	ENST00000388718.5	-	3	1313	c.1241C>T	c.(1240-1242)tCc>tTc	p.S414F	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	414	Ser-rich.						calcium ion binding|structural molecule activity	p.S414F(1)		NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ATCACATTTGGAAAATTCATT	0.423000													45	158					0	0	1	0	0
MYPN	84665	broad.mit.edu	37	10	69909858	69909858	+	Missense_Mutation	SNP	T	T	C			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr10:69909858T>C	ENST00000358913.5	+	6	1795	c.1307T>C	c.(1306-1308)gTg>gCg	p.V436A	MYPN_ENST00000373675.3_Missense_Mutation_p.V436A|MYPN_ENST00000540630.1_Missense_Mutation_p.V436A|MYPN_ENST00000354393.2_Missense_Mutation_p.V161A	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN	myopalladin	436	Ig-like 2.|Interaction with CARP.					nucleus|sarcomere	actin binding	p.V436A(1)		breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						GCAGCTCCTGTGTTTACAAAG	0.363000													31	97					0	0	1	0	0
N6AMT1	29104	broad.mit.edu	37	21	30252218	30252218	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr21:30252218G>T	ENST00000303775.5	-	4	395	c.370C>A	c.(370-372)Ccc>Acc	p.P124T	N6AMT1_ENST00000351429.3_Intron	NM_013240.4	NP_037372.3	Q9Y5N5	HEMK2_HUMAN	N-6 adenine-specific DNA methyltransferase 1 (putative)	124	Substrate binding (By similarity).				positive regulation of cell growth	protein complex	nucleic acid binding|protein binding|protein methyltransferase activity	p.P124T(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)	12						ACTACATAGGGGGGATTAAAC	0.308000													37	202					6.08268e-21	8.33822e-21	1	1	0
ITK	3702	broad.mit.edu	37	5	156638359	156638359	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr5:156638359G>T	ENST00000422843.3	+	3	457	c.305G>T	c.(304-306)tGg>tTg	p.W102L	CTB-4E7.1_ENST00000519375.1_RNA	NM_005546.3	NP_005537.3	Q08881	ITK_HUMAN	IL2-inducible T-cell kinase	102	PH.				cellular defense response|intracellular signal transduction|T cell receptor signaling pathway	cytosol|plasma membrane	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding	p.W102L(1)		breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(25)|ovary(8)|prostate(2)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	70	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.1)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CGGCAGCGCTGGGTGCTGGCC	0.488000			T	SYK	peripheral T-cell lymphoma								28	95					1.22674e-20	1.67363e-20	1	1	0
ITGA11	22801	broad.mit.edu	37	15	68596108	68596108	+	Splice_Site	SNP	A	A	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr15:68596108A>T	ENST00000423218.2	-	29	3594		c.e29+1		ITGA11_ENST00000315757.7_Splice_Site			Q9UKX5	ITA11_HUMAN	integrin, alpha 11						cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development	integrin complex	collagen binding|receptor activity	p.?(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52					Tirofiban(DB00775)	CAGGGCCCTCACCTTCCACAG	0.662000													16	35					0	0	1	0	0
NPY2R	4887	broad.mit.edu	37	4	156135191	156135191	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr4:156135191C>A	ENST00000329476.3	+	2	589	c.100C>A	c.(100-102)Cct>Act	p.P34T	NPY2R_ENST00000506608.1_Missense_Mutation_p.P34T	NM_000910.2	NP_000901.1	P49146	NPY2R_HUMAN	neuropeptide Y receptor Y2	34					cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis	integral to plasma membrane	calcium channel regulator activity	p.P34T(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1)	36	all_hematologic(180;0.24)	Renal(120;0.0854)				TGAACTGGTCCCTGACCCTGA	0.478000													33	73					4.65686e-17	6.02344e-17	1	1	0
FAM181B	220382	broad.mit.edu	37	11	82444630	82444630	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr11:82444630C>T	ENST00000329203.3	-	1	276	c.142G>A	c.(142-144)Ggt>Agt	p.G48S		NM_175885.3	NP_787081.2	A6NEQ2	F181B_HUMAN	family with sequence similarity 181, member B	48								p.G48S(1)		large_intestine(1)|lung(2)|prostate(1)	4						AGCAGCGCACCCGCCGGAGCC	0.692000													3	6					0	0	1	0	0
ITSN1	6453	broad.mit.edu	37	21	35124178	35124178	+	Missense_Mutation	SNP	A	A	C			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr21:35124178A>C	ENST00000381318.3	+	7	878	c.590A>C	c.(589-591)aAa>aCa	p.K197T	ITSN1_ENST00000399353.1_Missense_Mutation_p.K160T|ITSN1_ENST00000399349.1_Missense_Mutation_p.K197T|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000381291.4_Missense_Mutation_p.K197T|ITSN1_ENST00000399367.3_Missense_Mutation_p.K197T|ITSN1_ENST00000381285.4_Missense_Mutation_p.K197T|ITSN1_ENST00000399326.3_Missense_Mutation_p.K197T|ITSN1_ENST00000399352.1_Missense_Mutation_p.K197T|ITSN1_ENST00000437442.2_Missense_Mutation_p.K197T|ITSN1_ENST00000399355.2_Missense_Mutation_p.K197T|ITSN1_ENST00000399338.4_Missense_Mutation_p.K197T|ITSN1_ENST00000379960.5_Missense_Mutation_p.K197T	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	197					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity	p.K197T(1)		breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						CTAAACACTAAATTACAAAAG	0.338000													104	76					0	0	1	0	0
CACNA2D4	93589	broad.mit.edu	37	12	1953620	1953620	+	Silent	SNP	T	T	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr12:1953620T>A	ENST00000382722.5	-	25	2780	c.2418A>T	c.(2416-2418)tcA>tcT	p.S806S	CACNA2D4_ENST00000588077.1_Silent_p.S742S|CACNA2D4_ENST00000587995.1_Silent_p.S781S|CACNA2D4_ENST00000586184.1_Silent_p.S806S|CACNA2D4_ENST00000585708.1_Silent_p.S742S|CACNA2D4_ENST00000585732.1_Silent_p.S667S|CACNA2D4_ENST00000539048.2_5'UTR	NM_172364.4	NP_758952.4	Q7Z3S7	CA2D4_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 4	806						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity	p.S806S(2)		endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		CAGGATGCTCTGAGGCCTGGC	0.632000													14	22					0	0	1	0	0
TEX11	56159	broad.mit.edu	37	X	69964040	69964040	+	Missense_Mutation	SNP	T	T	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chrX:69964040T>A	ENST00000395889.2	-	11	922	c.767A>T	c.(766-768)aAg>aTg	p.K256M	TEX11_ENST00000344304.3_Missense_Mutation_p.K256M|TEX11_ENST00000374333.2_Missense_Mutation_p.K241M	NM_001003811.1	NP_001003811.1	Q8IYF3	TEX11_HUMAN	testis expressed 11	256							protein binding	p.K241M(1)		breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(13)|ovary(3)|prostate(3)|skin(3)	48	Renal(35;0.156)					AGTAGATTTCTTATCCATCTT	0.239000													15	10					0	0	1	0	0
COL21A1	81578	broad.mit.edu	37	6	55922481	55922481	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr6:55922481G>A	ENST00000244728.5	-	30	3245	c.2848C>T	c.(2848-2850)Ccg>Tcg	p.P950S	COL21A1_ENST00000370808.2_Missense_Mutation_p.P316S|COL21A1_ENST00000535941.1_Missense_Mutation_p.P950S|COL21A1_ENST00000370819.1_Missense_Mutation_p.P947S|COL21A1_ENST00000467045.1_5'UTR	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1	950					cell adhesion	collagen|cytoplasm	structural molecule activity	p.P950S(2)		breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			TTTCTGAACGGATCTCTTCTG	0.473000													33	45					0	0	1	0	0
OR1A1	8383	broad.mit.edu	37	17	3119135	3119135	+	Nonsense_Mutation	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr17:3119135C>A	ENST00000304094.1	+	1	221	c.221C>A	c.(220-222)tCa>tAa	p.S74*		NM_014565.2	NP_055380.2	Q9P1Q5	OR1A1_HUMAN	olfactory receptor, family 1, subfamily A, member 1	74					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	23						ATCTTCTTCTCATCGGTAACC	0.483000													316	439					1.11038e-139	2.10677e-139	1	1	0
TAF9B	51616	broad.mit.edu	37	X	77388927	77388927	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chrX:77388927G>A	ENST00000341864.5	-	6	594	c.500C>T	c.(499-501)tCt>tTt	p.S167F		NM_015975.4	NP_057059.2	Q9HBM6	TAF9B_HUMAN	TAF9B RNA polymerase II, TATA box binding protein (TBP)-associated factor, 31kDa	167					negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cell growth|transcription initiation, DNA-dependent	transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	14						ATTTGGGACAGACACCGTTTG	0.418000													15	552					0	0	1	0	0
OR4C46	119749	broad.mit.edu	37	11	51515672	51515672	+	Missense_Mutation	SNP	A	A	G	rs140334906		TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr11:51515672A>G	ENST00000328188.1	+	1	391	c.391A>G	c.(391-393)Atg>Gtg	p.M131V		NM_001004703.1	NP_001004703.1	A6NHA9	O4C46_HUMAN	olfactory receptor, family 4, subfamily C, member 46	131					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.M131V(1)		endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	48						CTTGCACTATATGACTATCAT	0.478000													180	192					0	0	1	0	0
KIF17	57576	broad.mit.edu	37	1	21016808	21016808	+	Silent	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr1:21016808G>T	ENST00000247986.2	-	7	1564	c.1254C>A	c.(1252-1254)gcC>gcA	p.A418A	KIF17_ENST00000400463.3_Silent_p.A418A|KIF17_ENST00000375044.1_Silent_p.A318A|KIF17_ENST00000490034.1_5'UTR			Q9P2E2	KIF17_HUMAN	kinesin family member 17	418					microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding	p.A418A(1)		NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		CTTTCAGCCGGGCCAGGCGCT	0.562000													8	1					1.3612e-06	1.51157e-06	1	1	0
FIGN	55137	broad.mit.edu	37	2	164468190	164468190	+	Missense_Mutation	SNP	T	T	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr2:164468190T>A	ENST00000333129.3	-	3	466	c.152A>T	c.(151-153)cAg>cTg	p.Q51L	FIGN_ENST00000482917.1_5'UTR|FIGN_ENST00000409634.1_Intron	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN	fidgetin	51						nuclear matrix	ATP binding|nucleoside-triphosphatase activity	p.Q51L(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						CCAGGCGTACTGATAGGTGCG	0.502000													181	342					0	0	1	0	0
RFPL4B	442247	broad.mit.edu	37	6	112671067	112671067	+	Nonsense_Mutation	SNP	C	C	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr6:112671067C>T	ENST00000441065.2	+	3	469	c.157C>T	c.(157-159)Cga>Tga	p.R53*	RP11-506B6.6_ENST00000587816.1_RNA	NM_001013734.2	NP_001013756.2	Q6ZWI9	RFPLB_HUMAN	ret finger protein-like 4B	53							zinc ion binding	p.R53*(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|skin(1)	14		all_cancers(87;9.44e-05)|all_hematologic(75;0.000114)|all_epithelial(87;0.00265)|Colorectal(196;0.0209)		all cancers(137;0.0202)|OV - Ovarian serous cystadenocarcinoma(136;0.0477)|Epithelial(106;0.0646)|GBM - Glioblastoma multiforme(226;0.0866)|BRCA - Breast invasive adenocarcinoma(108;0.244)		CCCCTTGTGTCGAGACGTGGT	0.463000													3	38					0	0	1	0	0
INPP4B	8821	broad.mit.edu	37	4	143129683	143129683	+	Splice_Site	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr4:143129683C>A	ENST00000513000.1	-	15	1401		c.e15-1		INPP4B_ENST00000308502.4_Splice_Site|INPP4B_ENST00000262992.4_Splice_Site|INPP4B_ENST00000509777.1_Splice_Site|INPP4B_ENST00000508116.1_Splice_Site	NM_003866.2	NP_003857.2	O15327	INP4B_HUMAN	inositol polyphosphate-4-phosphatase, type II, 105kDa						signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity	p.?(1)		breast(3)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(29)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58	all_hematologic(180;0.158)					AAAGAGGACCCTGATGGAAAC	0.303000													11	26					0.00136819	0.00141768	1	1	0
ADAMTS5	11096	broad.mit.edu	37	21	28302275	28302275	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr21:28302275C>A	ENST00000284987.5	-	7	2276	c.2155G>T	c.(2155-2157)Gac>Tac	p.D719Y	AP001601.2_ENST00000426771.1_RNA	NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	719	Cys-rich.				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding	p.D719Y(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						CCGCACTTGTCATACTGCAGC	0.458000													78	443					2.70612e-23	3.80984e-23	1	1	0
BANK1	55024	broad.mit.edu	37	4	102751288	102751288	+	Nonsense_Mutation	SNP	C	C	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr4:102751288C>T	ENST00000504592.1	+	6	767	c.349C>T	c.(349-351)Caa>Taa	p.Q117*	BANK1_ENST00000428908.1_Intron|BANK1_ENST00000444316.2_Nonsense_Mutation_p.Q102*|BANK1_ENST00000508653.1_Intron|BANK1_ENST00000322953.4_Nonsense_Mutation_p.Q132*			Q8NDB2	BANK1_HUMAN	B-cell scaffold protein with ankyrin repeats 1	132	Interaction with ITPR2.				B cell activation			p.Q132*(1)		NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|liver(2)|lung(16)|ovary(2)|skin(2)|urinary_tract(1)	44		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)		AAATATCTCTCAAAGCAGATG	0.373000													44	85					0	0	1	0	0
SERPINB11	89778	broad.mit.edu	37	18	61387285	61387285	+	RNA	SNP	C	C	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr18:61387285C>T	ENST00000544088.1	+	0	576				SERPINB11_ENST00000489748.1_RNA|SERPINB11_ENST00000382749.5_RNA|SERPINB11_ENST00000538847.1_RNA|SERPINB11_ENST00000536691.1_RNA	NM_080475.2	NP_536723.2	Q96P15	SPB11_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 11 (gene/pseudogene)						regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity	p.P172S(1)		breast(1)|cervix(1)|kidney(1)|lung(3)	6		Esophageal squamous(42;0.129)				CACAATTGACCCTTCATCTGT	0.333000													64	72					0	0	1	0	0
OR5W2	390148	broad.mit.edu	37	11	55681287	55681287	+	Missense_Mutation	SNP	T	T	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr11:55681287T>A	ENST00000344514.1	-	1	771	c.772A>T	c.(772-774)Atg>Ttg	p.M258L		NM_001001960.1	NP_001001960.1	Q8NH69	OR5W2_HUMAN	olfactory receptor, family 5, subfamily W, member 2	258					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.M258L(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(28)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						CGGAAATACATAAAGAGCAGA	0.438000													23	81					0	0	1	0	0
TLE4	7091	broad.mit.edu	37	9	82242321	82242321	+	Silent	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr9:82242321G>T	ENST00000376520.4	+	6	1176	c.348G>T	c.(346-348)cgG>cgT	p.R116R	TLE4_ENST00000376544.3_Silent_p.R116R|TLE4_ENST00000376534.4_5'UTR|TLE4_ENST00000376552.2_Silent_p.R116R|TLE4_ENST00000265284.6_Intron|TLE4_ENST00000376537.4_Silent_p.R116R|TLE4_ENST00000455913.1_3'UTR			O60756	BCE1_HUMAN	transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila)	0								p.R116R(2)		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						CTGTGGAACGGGCCAAGCAGG	0.453000													226	240					4.96009e-127	9.34912e-127	1	1	0
KTN1	3895	broad.mit.edu	37	14	56122831	56122831	+	Missense_Mutation	SNP	G	G	C			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr14:56122831G>C	ENST00000416613.1	+	28	2945	c.2873G>C	c.(2872-2874)aGc>aCc	p.S958T	KTN1_ENST00000395309.3_Missense_Mutation_p.S958T|KTN1_ENST00000438792.2_Missense_Mutation_p.S958T|KTN1_ENST00000554507.1_Missense_Mutation_p.S253T|KTN1_ENST00000395308.1_Missense_Mutation_p.S935T|KTN1_ENST00000395311.1_Missense_Mutation_p.S935T|KTN1_ENST00000395314.3_Missense_Mutation_p.S958T|KTN1_ENST00000413890.2_Missense_Mutation_p.S935T			Q86UP2	KTN1_HUMAN	kinectin 1 (kinesin receptor)	958					microtubule-based movement	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction		p.S958T(1)		breast(4)|central_nervous_system(1)|large_intestine(8)|lung(1)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	19						GATCTTTCTAGCAAAACACAG	0.303000			T	RET	papillary thryoid								14	45					0	0	1	0	0
CYLC1	1538	broad.mit.edu	37	X	83129105	83129105	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chrX:83129105G>T	ENST00000329312.4	+	4	1426	c.1389G>T	c.(1387-1389)aaG>aaT	p.K463N		NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head cytoskeleton 1	463					cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity	p.K462N(1)|p.K463N(1)		NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						ATGAAAAGAAGGGGAAGAAAG	0.353000													37	37					2.61675e-31	3.9562e-31	1	1	0
ANK2	287	broad.mit.edu	37	4	114276963	114276963	+	Missense_Mutation	SNP	T	T	C			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr4:114276963T>C	ENST00000357077.4	+	38	7242	c.7189T>C	c.(7189-7191)Tca>Cca	p.S2397P	ANK2_ENST00000394537.3_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.S2364P|ANK2_ENST00000510275.2_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	2364					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	p.S2397P(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		AGGAACTGAATCAAAACCTCA	0.502000													60	76					0	0	1	0	0
CLN3	1201	broad.mit.edu	37	16	28498827	28498827	+	Nonsense_Mutation	SNP	C	C	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr16:28498827C>T	ENST00000357806.7	-	5	553	c.330G>A	c.(328-330)tgG>tgA	p.W110*	CLN3_ENST00000565316.1_Missense_Mutation_p.G137E|CLN3_ENST00000354630.5_Missense_Mutation_p.G137E|CLN3_ENST00000355477.5_Missense_Mutation_p.G137E|CLN3_ENST00000333496.9_Missense_Mutation_p.G113E|CLN3_ENST00000569430.1_Missense_Mutation_p.G137E|CLN3_ENST00000535392.1_Missense_Mutation_p.G59E|CLN3_ENST00000395653.4_Missense_Mutation_p.G37E|CLN3_ENST00000360019.2_Missense_Mutation_p.G137E|CLN3_ENST00000357857.9_Missense_Mutation_p.G83E|CLN3_ENST00000568224.1_Missense_Mutation_p.G59E|CLN3_ENST00000567963.1_Missense_Mutation_p.G137E|CLN3_ENST00000359984.7_Missense_Mutation_p.G137E|CLN3_ENST00000357076.5_Missense_Mutation_p.G137E			Q13286	CLN3_HUMAN	ceroid-lipofuscinosis, neuronal 3	0					amyloid precursor protein catabolic process|arginine transport|associative learning|autophagic vacuole fusion|cell death|cellular amino acid metabolic process|cytosolic calcium ion homeostasis|galactosylceramide metabolic process|globoside metabolic process|glucosylceramide metabolic process|ionotropic glutamate receptor signaling pathway|lysosomal lumen acidification|lysosomal lumen pH elevation|negative regulation of catalytic activity|negative regulation of macroautophagy|negative regulation of neuron apoptosis|negative regulation of proteolysis|neuromuscular process controlling balance|neurotransmitter metabolic process|protein catabolic process|protein folding|protein processing|receptor-mediated endocytosis|regulation of action potential|sphingomyelin metabolic process|vacuolar transport	autophagic vacuole|caveola|cytosol|early endosome|Golgi membrane|Golgi stack|integral to endoplasmic reticulum membrane|late endosome|lysosomal membrane|membrane fraction|mitochondrion|neuron projection|nucleus|synaptic vesicle|trans-Golgi network	unfolded protein binding	p.G137E(1)		breast(1)|large_intestine(2)|lung(11)|upper_aerodigestive_tract(1)	15						GACGAAGCTTCCAGCAGCACA	0.592000													8	33					0	0	1	0	0
KMT2D	8085	broad.mit.edu	37	12	49448739	49448739	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr12:49448739C>A	ENST00000301067.7	-	2	119	c.120G>T	c.(118-120)gaG>gaT	p.E40D		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D									p.E40D(2)									GGACAGAGACCTCTCCCACAT	0.532000													163	232					1.02705e-64	1.85062e-64	1	1	0
ZNF208	7757	broad.mit.edu	37	19	22155657	22155657	+	Missense_Mutation	SNP	C	C	G			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr19:22155657C>G	ENST00000397126.4	-	4	2327	c.2179G>C	c.(2179-2181)Ggc>Cgc	p.G727R	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	NM_007153.3	NP_009084.2			zinc finger protein 208									p.G627R(2)|p.G727R(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				AAGCTTTTGCCACATTCTTCA	0.378000													45	124					0	0	1	0	0
KEL	3792	broad.mit.edu	37	7	142639572	142639572	+	Silent	SNP	C	C	A	rs140592001	byFrequency	TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr7:142639572C>A	ENST00000355265.2	-	18	2460	c.1986G>T	c.(1984-1986)ctG>ctT	p.L662L		NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	662					proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding	p.L662L(1)		central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					CCAGGCTGGGCAGGACAGTCT	0.587000													12	35					9.16793e-09	1.04855e-08	1	1	0
PRKAB1	5564	broad.mit.edu	37	12	120112187	120112187	+	Nonsense_Mutation	SNP	C	C	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr12:120112187C>T	ENST00000229328.5	+	4	952	c.460C>T	c.(460-462)Caa>Taa	p.Q154*	PRKAB1_ENST00000540121.1_5'UTR|PRKAB1_ENST00000541640.1_Nonsense_Mutation_p.Q154*	NM_006253.4	NP_006244.2	Q9Y478	AAKB1_HUMAN	protein kinase, AMP-activated, beta 1 non-catalytic subunit	154					cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid oxidation	cytosol		p.Q154*(1)		endometrium(2)|large_intestine(3)|lung(5)	10	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.166)	Adenosine monophosphate(DB00131)|Metformin(DB00331)	CAACATCATTCAAGTGAAGAA	0.413000													7	92					0	0	1	0	0
XKR4	114786	broad.mit.edu	37	8	56436303	56436303	+	Silent	SNP	A	A	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr8:56436303A>T	ENST00000327381.5	+	3	1570	c.1470A>T	c.(1468-1470)ccA>ccT	p.P490P		NM_052898.1	NP_443130.1	Q5GH76	XKR4_HUMAN	XK, Kell blood group complex subunit-related family, member 4	490						integral to membrane		p.P490P(1)		NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34			Epithelial(17;0.000117)|all cancers(17;0.000836)			TTGCCATTCCAGCGCTGTGTG	0.453000													38	22					0	0	1	0	0
REG1P	5969	broad.mit.edu	37	2	79364039	79364039	+	RNA	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr2:79364039G>T	ENST00000444841.1	-	0	299																											CTGAATTCATGTTCTGGCAGT	0.493000													50	124					3.53049e-34	5.55761e-34	1	1	0
SLC5A8	160728	broad.mit.edu	37	12	101573854	101573854	+	Missense_Mutation	SNP	A	A	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr12:101573854A>T	ENST00000536262.2	-	10	1744	c.1186T>A	c.(1186-1188)Tgt>Agt	p.C396S		NM_145913.3	NP_666018.3	Q8N695	SC5A8_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8	396					apoptosis|sodium ion transport	apical plasma membrane|integral to membrane	monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity	p.C396S(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						ATTCCAATACACAGGGCTCCA	0.433000													157	289					0	0	1	0	0
SIGLEC11	114132	broad.mit.edu	37	19	50462124	50462124	+	Missense_Mutation	SNP	G	G	C	rs149136670	byFrequency	TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr19:50462124G>C	ENST00000447370.2	-	7	1229	c.1139C>G	c.(1138-1140)cCg>cGg	p.P380R	SIGLEC11_ENST00000426971.2_Missense_Mutation_p.P380R	NM_052884.2	NP_443116.2	Q96RL6	SIG11_HUMAN	sialic acid binding Ig-like lectin 11	380	Ig-like C2-type 3.				cell adhesion	integral to membrane	sugar binding	p.P368R(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1)	32		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517)		CTCCAGGACCGGGAGGGATGT	0.672000													11	21					0	0	1	0	0
OR4F6	390648	broad.mit.edu	37	15	102346241	102346241	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr15:102346241G>T	ENST00000328882.4	+	1	340	c.319G>T	c.(319-321)Gtt>Ttt	p.V107F		NM_001005326.1	NP_001005326.1	Q8NGB9	OR4F6_HUMAN	olfactory receptor, family 4, subfamily F, member 6	107					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V107F(1)		breast(1)|large_intestine(1)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)			TATCCATGCAGTTGGGGGAAC	0.473000													147	659					3.69633e-99	6.87662e-99	1	1	0
TNRC6C	57690	broad.mit.edu	37	17	76061008	76061008	+	Silent	SNP	G	G	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr17:76061008G>A	ENST00000335749.4	+	4	3161	c.2592G>A	c.(2590-2592)ctG>ctA	p.L864L	TNRC6C_ENST00000301624.4_Silent_p.L867L|TNRC6C_ENST00000588061.1_Silent_p.L867L|TNRC6C_ENST00000541771.1_Silent_p.L867L|TNRC6C_ENST00000544502.1_Silent_p.L864L|TNRC6C_ENST00000588847.1_Silent_p.L864L	NM_001142640.1	NP_001136112.1	Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C	867	Sufficient for interaction with argonaute family proteins.				gene silencing by RNA|regulation of translation		nucleotide binding|RNA binding	p.L867L(1)|p.L864L(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			CCTCAGCCCTGTGCAAACCAG	0.532000													6	3					0	0	1	0	0
ARID1A	8289	broad.mit.edu	37	1	27106171	27106171	+	Nonsense_Mutation	SNP	A	A	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr1:27106171A>T	ENST00000324856.7	+	20	6153	c.5782A>T	c.(5782-5784)Aag>Tag	p.K1928*	ARID1A_ENST00000457599.2_Nonsense_Mutation_p.K1711*|ARID1A_ENST00000540690.1_Nonsense_Mutation_p.K256*|ARID1A_ENST00000374152.2_Nonsense_Mutation_p.K1545*	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1928					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	p.K1928*(1)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GGATGGAGCTAAGAGTTCAGA	0.542000			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								174	157					0	0	1	0	0
POLR3E	55718	broad.mit.edu	37	16	22325425	22325425	+	Silent	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr16:22325425G>T	ENST00000299853.5	+	8	665	c.498G>T	c.(496-498)gcG>gcT	p.A166A	POLR3E_ENST00000564209.1_Silent_p.A166A|POLR3E_ENST00000359210.4_Silent_p.A166A|POLR3E_ENST00000418581.2_Silent_p.A130A	NM_001258033.1|NM_001258035.1|NM_018119.3	NP_001244962.1|NP_001244964.1|NP_060589.1	Q9NVU0	RPC5_HUMAN	polymerase (RNA) III (DNA directed) polypeptide E (80kD)	166					innate immune response|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA-directed RNA polymerase activity	p.A166A(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.012)		AGGATGAGGCGGAAGACGATG	0.637000													8	17					0.00010058	0.000106726	1	1	0
CLDN8	9073	broad.mit.edu	37	21	31588059	31588059	+	Missense_Mutation	SNP	A	A	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr21:31588059A>T	ENST00000399899.1	-	1	332	c.185T>A	c.(184-186)aTg>aAg	p.M62K	CLDN8_ENST00000286809.1_Missense_Mutation_p.M62K	NM_199328.2	NP_955360.1	P56748	CLD8_HUMAN	claudin 8	62					calcium-independent cell-cell adhesion	endoplasmic reticulum|integral to membrane|tight junction	identical protein binding|structural molecule activity	p.M62K(1)		NS(1)|endometrium(2)|large_intestine(6)|lung(6)	15						TTTGCACTGCATCCTGATGTT	0.498000													33	186					0	0	1	0	0
FAM13C	220965	broad.mit.edu	37	10	61011256	61011256	+	Silent	SNP	C	C	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr10:61011256C>T	ENST00000435852.2	-	13	1760	c.1713G>A	c.(1711-1713)caG>caA	p.Q571Q	FAM13C_ENST00000373868.2_Intron|FAM13C_ENST00000277705.6_Intron|FAM13C_ENST00000442566.3_Intron|FAM13C_ENST00000419214.2_Intron|FAM13C_ENST00000468840.2_Intron|FAM13C_ENST00000373867.3_Intron			Q8NE31	FA13C_HUMAN	family with sequence similarity 13, member C	0										NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						GTCACCGTTCCTGCAAAAAAT	0.348000													6	28					0	0	1	0	0
OSTCP1	202459	broad.mit.edu	37	6	159262735	159262735	+	RNA	SNP	G	G	A	rs73013670	by1000genomes	TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr6:159262735G>A	ENST00000522287.1	-	0	608					NR_028496.1																						CCATCAGATAGCCCTTCTCAA	0.418000													4	94					0	0	1	0	0
FAM98C	147965	broad.mit.edu	37	19	38896205	38896205	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr19:38896205G>T	ENST00000252530.5	+	6	699	c.680G>T	c.(679-681)tGc>tTc	p.C227F	FAM98C_ENST00000588262.1_Intron|FAM98C_ENST00000343358.7_Missense_Mutation_p.C201F	NM_174905.3	NP_777565.3	Q17RN3	FA98C_HUMAN	family with sequence similarity 98, member C	227								p.C227F(1)		endometrium(2)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(60;3.95e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			CAGTACCGCTGCCGCCGCTGC	0.597000													10	14					1.58986e-06	1.76207e-06	1	1	0
PIP5K1A	8394	broad.mit.edu	37	1	151171540	151171540	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr1:151171540C>T	ENST00000409426.1	+	1	513	c.68C>T	c.(67-69)tCc>tTc	p.S23F	PIP5K1A_ENST00000368890.4_Missense_Mutation_p.S23F|PIP5K1A_ENST00000441902.2_Missense_Mutation_p.S23F|PIP5K1A_ENST00000368888.4_Missense_Mutation_p.S23F			Q99755	PI51A_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, alpha	23					phospholipid biosynthetic process|signal transduction	endomembrane system|Golgi stack|lamellipodium|nuclear speck	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|kinase binding	p.S23F(1)|p.S23C(1)		breast(1)|central_nervous_system(1)|ovary(1)|skin(1)|stomach(1)	5	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.181)			GCGGTCCCTTCCTGTACCTTG	0.627000													24	17					0	0	1	0	0
CDH2	1000	broad.mit.edu	37	18	25562988	25562988	+	Nonsense_Mutation	SNP	G	G	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr18:25562988G>A	ENST00000269141.3	-	14	2692	c.2269C>T	c.(2269-2271)Caa>Taa	p.Q757*	CDH2_ENST00000399380.3_Nonsense_Mutation_p.Q726*	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)	757					adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding	p.Q757*(1)		NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						ATTAAAAGTTGTTTGGCCTGG	0.353000													42	143					0	0	1	0	0
GNPAT	8443	broad.mit.edu	37	1	231403468	231403468	+	Silent	SNP	C	C	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr1:231403468C>T	ENST00000366647.4	+	9	1267	c.1098C>T	c.(1096-1098)gtC>gtT	p.V366V	GNPAT_ENST00000366646.3_Silent_p.V305V	NM_014236.3	NP_055051.1	O15228	GNPAT_HUMAN	glyceronephosphate O-acyltransferase	366					ether lipid biosynthetic process|fatty acid metabolic process|organ morphogenesis	peroxisomal matrix|peroxisomal membrane	glycerone-phosphate O-acyltransferase activity	p.V366V(2)		breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	23	Breast(184;0.0871)	all_cancers(173;0.2)|Prostate(94;0.183)				ATGCCTTTGTCACTGAAGTTG	0.433000													15	172					0	0	1	0	0
MYBPC2	4606	broad.mit.edu	37	19	50957609	50957609	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr19:50957609G>A	ENST00000357701.5	+	18	2048	c.1997G>A	c.(1996-1998)gGg>gAg	p.G666E		NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type	666	Fibronectin type-III 1.				cell adhesion|muscle filament sliding	cytosol|myosin filament	actin binding|structural constituent of muscle	p.G666E(1)		breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		ATGTACGATGGGGGGAAGCCA	0.542000													40	58					0	0	1	0	0
SPATA6	54558	broad.mit.edu	37	1	48850997	48850997	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr1:48850997C>A	ENST00000371847.3	-	9	1057	c.893G>T	c.(892-894)cGa>cTa	p.R298L	SPATA6_ENST00000396199.3_Missense_Mutation_p.R226L|SPATA6_ENST00000371843.3_Missense_Mutation_p.R298L	NM_019073.2	NP_061946.1	Q9NWH7	SPAT6_HUMAN	spermatogenesis associated 6	298					cell differentiation|multicellular organismal development|spermatogenesis	extracellular region		p.R298L(1)		breast(1)|endometrium(2)|large_intestine(6)|lung(7)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	21						ATCCTTGGGTCGGCAGCAGCC	0.299000													9	40					0.006122	0.00632056	1	1	0
ARHGAP5	394	broad.mit.edu	37	14	32562466	32562466	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr14:32562466G>T	ENST00000345122.3	+	2	2906	c.2591G>T	c.(2590-2592)gGa>gTa	p.G864V	ARHGAP5_ENST00000556611.1_Missense_Mutation_p.G864V|ARHGAP5_ENST00000432921.1_Missense_Mutation_p.G864V|ARHGAP5_ENST00000539826.2_Missense_Mutation_p.G864V|ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000433497.1_Intron	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5	864					cell adhesion|Rho protein signal transduction	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding	p.G864V(1)		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)		GCTTCGATGGGAATGCTTCGA	0.383000													15	109					3.51602e-12	4.26838e-12	1	1	0
ZNF510	22869	broad.mit.edu	37	9	99521121	99521121	+	Missense_Mutation	SNP	A	A	G			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr9:99521121A>G	ENST00000375231.1	-	6	2641	c.1991T>C	c.(1990-1992)tTa>tCa	p.L664S	ZNF510_ENST00000223428.4_Missense_Mutation_p.L664S			Q9Y2H8	ZN510_HUMAN	zinc finger protein 510	664					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.L664S(1)		NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|stomach(1)|urinary_tract(1)	21		Acute lymphoblastic leukemia(62;0.0527)				CTTCTTACATAATTTCCCATA	0.363000													38	88					0	0	1	0	0
XYLT1	64131	broad.mit.edu	37	16	17228362	17228362	+	Silent	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr16:17228362C>A	ENST00000261381.6	-	9	2079	c.1995G>T	c.(1993-1995)acG>acT	p.T665T	CTD-2576D5.4_ENST00000567344.1_RNA	NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	665					glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity	p.T665T(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						TGTGCAGGGACGTCTCGGCCC	0.607000													13	52					5.26018e-13	6.4819e-13	1	1	0
EIF2D	1939	broad.mit.edu	37	1	206784620	206784620	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr1:206784620G>A	ENST00000271764.2	-	2	372	c.164C>T	c.(163-165)gCt>gTt	p.A55V	EIF2D_ENST00000367114.3_Missense_Mutation_p.A55V	NM_006893.2	NP_008824.2	P41214	EIF2D_HUMAN	eukaryotic translation initiation factor 2D	55					intracellular protein transport	cytoplasm	protein binding|receptor activity|translation initiation factor activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23						CCCTTTGTGAGCATACAACTT	0.473000													38	149					0	0	1	0	0
SALL1	6299	broad.mit.edu	37	16	51172949	51172949	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr16:51172949C>T	ENST00000440970.1	-	2	3324	c.2893G>A	c.(2893-2895)Gag>Aag	p.E965K	SALL1_ENST00000566102.1_Intron|SALL1_ENST00000541611.1_Intron|SALL1_ENST00000251020.4_Missense_Mutation_p.E1062K	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	1062					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.E1062K(1)		NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			GAACTGGGCTCAAAGAGCTGG	0.488000													3	44					0	0	1	0	0
KIF9	64147	broad.mit.edu	37	3	47286357	47286357	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr3:47286357C>T	ENST00000335044.2	-	15	1795	c.1438G>A	c.(1438-1440)Gga>Aga	p.G480R	KIF9_ENST00000444589.2_Missense_Mutation_p.G480R|KIF9-AS1_ENST00000429315.3_RNA|KIF9_ENST00000452770.2_Missense_Mutation_p.G480R|KIF9_ENST00000487440.1_5'UTR|KIF9_ENST00000265529.3_Missense_Mutation_p.G480R|KIF9_ENST00000352910.4_Missense_Mutation_p.G387R	NM_001134878.1|NM_182902.3	NP_001128350.1|NP_878905.2	Q9HAQ2	KIF9_HUMAN	kinesin family member 9	480					blood coagulation|microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	p.G480R(1)		central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(15)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)	34		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000284)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		ACTCCGAGTCCAAAGTTTTGT	0.527000													3	39					0	0	1	0	0
HCN1	348980	broad.mit.edu	37	5	45262807	45262807	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr5:45262807C>A	ENST00000303230.4	-	8	1946	c.1889G>T	c.(1888-1890)aGg>aTg	p.R630M		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	630						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	p.R630M(2)		NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						CACCATCTCCCTGTCATGTTT	0.448000													80	131					2.76863e-45	4.62515e-45	1	1	0
ANKRD30A	91074	broad.mit.edu	37	10	37430752	37430752	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr10:37430752G>T	ENST00000374660.1	+	7	858	c.759G>T	c.(757-759)ttG>ttT	p.L253F	ANKRD30A_ENST00000361713.1_Missense_Mutation_p.L253F|ANKRD30A_ENST00000602533.1_Missense_Mutation_p.L253F			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	309						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.L253F(2)		NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						CTGCACCCTTGGTGGAAAGAA	0.502000													22	27					6.12954e-19	8.09268e-19	1	1	0
CHORDC1	26973	broad.mit.edu	37	11	89947211	89947211	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr11:89947211G>T	ENST00000320585.6	-	4	713	c.304C>A	c.(304-306)Cca>Aca	p.P102T	CHORDC1_ENST00000457199.2_Missense_Mutation_p.P83T|CHORDC1_ENST00000530765.1_Missense_Mutation_p.P102T	NM_012124.2	NP_036256.2	Q9UHD1	CHRD1_HUMAN	cysteine and histidine-rich domain (CHORD) containing 1	102	Interaction with HSP90AA1 and HSP90AB1 (By similarity).				chaperone-mediated protein folding|regulation of response to stress|response to stress		Hsp90 protein binding|identical protein binding	p.P102T(1)		endometrium(2)|large_intestine(2)|liver(1)|lung(6)	11		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.00915)				GCTTCTACTGGCTTAGGGGCT	0.383000													24	67					1.17739e-12	1.44155e-12	1	1	0
EML2	24139	broad.mit.edu	37	19	46116800	46116800	+	Splice_Site	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr19:46116800C>A	ENST00000536630.1	-	21	2402	c.2265_splice	c.e21+1	p.R755_splice	EML2_ENST00000587152.1_Splice_Site_p.R809_splice|EML2_ENST00000589876.1_Splice_Site_p.R608_splice|EML2_ENST00000245925.3_Splice_Site_p.R608_splice	NM_001193269.1	NP_001180198.1	O95834	EMAL2_HUMAN	echinoderm microtubule associated protein like 2	608					sensory perception of sound|visual perception	cytoplasm|intracellular membrane-bounded organelle|microtubule|microtubule associated complex	catalytic activity|protein binding	p.R608L(1)		NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|urinary_tract(1)	31		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00553)|GBM - Glioblastoma multiforme(486;0.131)|Epithelial(262;0.197)		GGGACTCACTCGAGGCTGACA	0.572000													46	68					5.86059e-21	8.05304e-21	1	1	0
NEDD4L	23327	broad.mit.edu	37	18	56024480	56024480	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr18:56024480G>T	ENST00000456986.1	+	19	2000	c.1400G>T	c.(1399-1401)gGt>gTt	p.G467V	NEDD4L_ENST00000456173.2_Missense_Mutation_p.G447V|NEDD4L_ENST00000382850.4_Missense_Mutation_p.G568V|NEDD4L_ENST00000431212.2_Missense_Mutation_p.G467V|NEDD4L_ENST00000586263.1_Missense_Mutation_p.G560V|NEDD4L_ENST00000435432.2_Missense_Mutation_p.G447V|NEDD4L_ENST00000256830.9_Missense_Mutation_p.G484V|NEDD4L_ENST00000589054.1_Intron|NEDD4L_ENST00000357895.5_Missense_Mutation_p.G580V|NEDD4L_ENST00000256832.7_Missense_Mutation_p.G447V|NEDD4L_ENST00000356462.6_Missense_Mutation_p.G524V|NEDD4L_ENST00000400345.3_Missense_Mutation_p.G588V	NM_001144964.1	NP_001138436.1	Q96PU5	NED4L_HUMAN	neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase	588					cellular sodium ion homeostasis|excretion|interspecies interaction between organisms|positive regulation of endocytosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of protein catabolic process|response to metal ion|sodium ion transport|water homeostasis	cytoplasm	protein binding|sodium channel regulator activity|ubiquitin-protein ligase activity	p.G568V(1)|p.G588V(1)		breast(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(11)|ovary(1)|prostate(4)	37						GCTATTACTGGTCCGGTCAGT	0.353000													68	174					1.91123e-38	3.11117e-38	1	1	0
GDF2	2658	broad.mit.edu	37	10	48413794	48413794	+	Silent	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr10:48413794G>T	ENST00000249598.1	-	2	1233	c.1074C>A	c.(1072-1074)ggC>ggA	p.G358G		NM_016204.1	NP_057288.1	Q9UK05	GDF2_HUMAN	growth differentiation factor 2	358					activin receptor signaling pathway|BMP signaling pathway|cartilage development|cellular iron ion homeostasis|growth|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of DNA replication|negative regulation of endothelial cell proliferation|ossification|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity	p.G358G(1)		breast(1)|endometrium(2)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	28						AGAAGCAGCCGCCCTTACACT	0.572000													17	11					5.26018e-13	6.4819e-13	1	1	0
ATP1A2	477	broad.mit.edu	37	1	160100252	160100252	+	Silent	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr1:160100252G>T	ENST00000361216.3	+	13	1781	c.1692G>T	c.(1690-1692)cgG>cgT	p.R564R	ATP1A2_ENST00000472488.1_3'UTR|ATP1A2_ENST00000392233.3_Silent_p.R564R	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	564					ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	p.R564R(1)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			AGTTTCCTCGGGGCTTCAAAT	0.552000													36	37					2.01872e-29	2.99669e-29	1	1	0
IPO8	10526	broad.mit.edu	37	12	30843467	30843467	+	Silent	SNP	T	T	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr12:30843467T>A	ENST00000256079.4	-	2	467	c.129A>T	c.(127-129)atA>atT	p.I43I		NM_006390.3	NP_006381.2	O15397	IPO8_HUMAN	importin 8	43	Importin N-terminal.				intracellular protein transport|signal transduction	cytoplasm|nucleus	protein transporter activity|Ran GTPase binding	p.I43I(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(16)|liver(1)|lung(22)|prostate(2)|skin(2)|urinary_tract(2)	52	all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					GGTCAGAGACTATAATCCGAA	0.328000													63	65					0	0	1	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43895977	43895977	+	Missense_Mutation	SNP	T	T	C			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr12:43895977T>C	ENST00000389420.3	-	4	844	c.845A>G	c.(844-846)tAt>tGt	p.Y282C	ADAMTS20_ENST00000553158.1_Missense_Mutation_p.Y282C	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	282	Peptidase M12B.					proteinaceous extracellular matrix	zinc ion binding	p.Y282C(2)		breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		AGTCAGTATATAGTTTTGCAA	0.279000													10	15					0	0	1	0	0
ZNF35	7584	broad.mit.edu	37	3	44700713	44700713	+	Silent	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr3:44700713C>A	ENST00000396056.2	+	4	1093	c.858C>A	c.(856-858)gcC>gcA	p.A286A	ZNF35_ENST00000542250.1_Silent_p.A126A|RP11-944L7.4_ENST00000457331.1_RNA|ZNF35_ENST00000296092.3_3'UTR	NM_003420.3	NP_003411.3	P13682	ZNF35_HUMAN	zinc finger protein 35	286					cellular response to retinoic acid|spermatogenesis	nucleus|perinuclear region of cytoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.A286E(1)		large_intestine(3)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	12		Ovarian(412;0.0228)		OV - Ovarian serous cystadenocarcinoma(275;2.49e-27)|KIRC - Kidney renal clear cell carcinoma(197;0.0475)|Kidney(197;0.0595)		GTGGGAAAGCCTTCACTCAGA	0.408000													41	26					4.64027e-19	6.1548e-19	1	1	0
PCDH1	5097	broad.mit.edu	37	5	141244523	141244523	+	Missense_Mutation	SNP	A	A	C			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr5:141244523A>C	ENST00000287008.3	-	3	1520	c.1373T>G	c.(1372-1374)cTg>cGg	p.L458R	PCDH1_ENST00000503492.1_Intron|PCDH1_ENST00000536585.1_Missense_Mutation_p.L436R|PCDH1_ENST00000511044.1_5'UTR|PCDH1_ENST00000394536.3_Missense_Mutation_p.L458R|PCDH1_ENST00000456271.1_Missense_Mutation_p.L446R	NM_032420.2	NP_115796.2	Q08174	PCDH1_HUMAN	protocadherin 1	458	Cadherin 4.				cell-cell signaling|homophilic cell adhesion|nervous system development	cell-cell junction|integral to plasma membrane	calcium ion binding	p.L458R(1)		breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1)	51		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)		GGTAGTCTGCAGGAAATACTT	0.557000													68	293					0	0	1	0	0
IGKV1-6	28943	broad.mit.edu	37	2	89265803	89265803	+	RNA	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr2:89265803C>A	ENST00000464162.1	-	0	357																											ATCTTGTAGACAGTAATAAGT	0.522000													55	124					2.37032e-18	3.12229e-18	1	1	0
LRBA	987	broad.mit.edu	37	4	151223840	151223840	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr4:151223840C>A	ENST00000535741.1	-	53	8427	c.7954G>T	c.(7954-7956)Gat>Tat	p.D2652Y	LRBA_ENST00000357115.3_Missense_Mutation_p.D2663Y|LRBA_ENST00000503716.1_5'UTR|LRBA_ENST00000510413.1_Missense_Mutation_p.D2652Y			P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	2663						endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding	p.D2663Y(1)		breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					AGAGTTGCATCACGTGACCCT	0.423000													69	124					3.58576e-35	5.7553e-35	1	1	0
EPHA3	2042	broad.mit.edu	37	3	89456501	89456501	+	Silent	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr3:89456501C>A	ENST00000336596.2	+	8	1902	c.1677C>A	c.(1675-1677)gtC>gtA	p.V559V	EPHA3_ENST00000494014.1_Silent_p.V559V	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	559						extracellular region|integral to plasma membrane	ATP binding	p.V559V(1)		NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		TCACTGTTGTCATCTATGTTT	0.423000										TSP Lung(6;0.00050)			65	68					1.15062e-32	1.76757e-32	1	1	0
KIAA0947	23379	broad.mit.edu	37	5	5473809	5473809	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr5:5473809G>T	ENST00000296564.7	+	16	6583	c.6361G>T	c.(6361-6363)Gat>Tat	p.D2121Y		NM_015325.2	NP_056140.1	Q9Y2F5	K0947_HUMAN	KIAA0947	2121								p.D2121Y(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						ATTTGCCATTGATCTGCTCTG	0.333000													11	27					2.32078e-09	2.68648e-09	1	1	0
OR4C15	81309	broad.mit.edu	37	11	55322592	55322592	+	Silent	SNP	C	C	G			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr11:55322592C>G	ENST00000314644.2	+	1	810	c.810C>G	c.(808-810)tcC>tcG	p.S270S		NM_001001920.1	NP_001001920.1	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C, member 15	216					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S270S(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						TGCTTGTCTCCTATGCTGTCA	0.468000										HNSCC(20;0.049)			271	398					0	0	1	0	0
UGT2B28	54490	broad.mit.edu	37	4	70152489	70152489	+	Missense_Mutation	SNP	A	A	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr4:70152489A>T	ENST00000335568.5	+	3	892	c.890A>T	c.(889-891)cAg>cTg	p.Q297L	UGT2B28_ENST00000511240.1_Missense_Mutation_p.Q297L	NM_053039.1	NP_444267.1	Q9BY64	UDB28_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B28	297					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	p.Q297L(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31					Flunitrazepam(DB01544)	GAATTTGTACAGAGCTCTGGT	0.403000													77	224					0	0	1	0	0
SOX5	6660	broad.mit.edu	37	12	23689448	23689448	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr12:23689448C>T	ENST00000546136.1	-	13	1890	c.1888G>A	c.(1888-1890)Ggt>Agt	p.G630S	SOX5_ENST00000396007.2_Missense_Mutation_p.G257S|SOX5_ENST00000541536.1_Missense_Mutation_p.G522S|SOX5_ENST00000451604.2_Missense_Mutation_p.G643S|SOX5_ENST00000309359.1_Missense_Mutation_p.G630S|SOX5_ENST00000537393.1_Missense_Mutation_p.G608S|SOX5_ENST00000545921.1_Missense_Mutation_p.G633S|SOX5_ENST00000381381.2_Missense_Mutation_p.G522S			P35711	SOX5_HUMAN	SRY (sex determining region Y)-box 5	643					transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	p.G643S(1)		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						TTGTATTCACCAATGCGCAGC	0.507000													39	80					0	0	1	0	0
BMP4	652	broad.mit.edu	37	14	54417449	54417449	+	Silent	SNP	G	G	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr14:54417449G>A	ENST00000245451.4	-	4	921	c.528C>T	c.(526-528)caC>caT	p.H176H	BMP4_ENST00000559087.1_Silent_p.H176H|BMP4_ENST00000417573.1_Silent_p.H176H|BMP4_ENST00000558984.1_Silent_p.H176H	NM_001202.3	NP_001193.2	P12644	BMP4_HUMAN	bone morphogenetic protein 4	176					activation of MAPKK activity|blood vessel endothelial cell proliferation involved in sprouting angiogenesis|BMP signaling pathway involved in heart induction|BMP signaling pathway involved in nephric duct formation|branching involved in ureteric bud morphogenesis|bronchus development|bud dilation involved in lung branching|cardiac septum development|cartilage development|endocardial cushion development|epithelial cell proliferation involved in lung morphogenesis|intermediate mesodermal cell differentiation|lung alveolus development|lymphoid progenitor cell differentiation|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesonephros development|negative regulation of branch elongation involved in ureteric bud branching by BMP signaling pathway|negative regulation of branching involved in ureteric bud morphogenesis|negative regulation of cell proliferation involved in heart morphogenesis|negative regulation of glomerular mesangial cell proliferation|negative regulation of glomerulus development|negative regulation of immature T cell proliferation in thymus|negative regulation of MAP kinase activity|negative regulation of metanephric comma-shaped body morphogenesis|negative regulation of metanephric S-shaped body morphogenesis|negative regulation of mitosis|negative regulation of myoblast differentiation|negative regulation of phosphorylation|negative regulation of striated muscle tissue development|negative regulation of thymocyte apoptosis|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cardiac muscle fiber development|positive regulation of cartilage development|positive regulation of collagen biosynthetic process|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of kidney development|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of smooth muscle cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|protein localization to nucleus|pulmonary artery endothelial tube morphogenesis|secondary heart field specification|SMAD protein signal transduction|specification of ureteric bud anterior/posterior symmetry by BMP signaling pathway|steroid hormone mediated signaling pathway	extracellular space|proteinaceous extracellular matrix	BMP receptor binding|chemoattractant activity|cytokine activity|growth factor activity	p.H176H(1)		breast(1)|endometrium(3)|large_intestine(2)|lung(9)|prostate(3)|urinary_tract(1)	19						TGTTTATACGGTGGAAGCCCC	0.562000													5	25					0	0	1	0	0
TENM4	26011	broad.mit.edu	37	11	78412653	78412653	+	Nonsense_Mutation	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr11:78412653C>A	ENST00000278550.7	-	28	5467	c.5005G>T	c.(5005-5007)Gag>Tag	p.E1669*		NM_001098816.2	NP_001092286.2			teneurin transmembrane protein 4									p.E1669*(2)									ATGGCCAACTCGTGTCCTTGT	0.507000													14	65					9.16793e-09	1.04855e-08	1	1	0
VRK2	7444	broad.mit.edu	37	2	58350345	58350345	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr2:58350345G>T	ENST00000435505.2	+	11	1398	c.653G>T	c.(652-654)aGc>aTc	p.S218I	VRK2_ENST00000440705.2_Missense_Mutation_p.S195I|VRK2_ENST00000417641.2_Missense_Mutation_p.S218I|VRK2_ENST00000340157.4_Missense_Mutation_p.S218I|VRK2_ENST00000412104.2_Missense_Mutation_p.S218I			Q86Y07	VRK2_HUMAN	vaccinia related kinase 2	218	Protein kinase.					integral to membrane	ATP binding|protein binding|protein serine/threonine kinase activity	p.S218I(1)		endometrium(4)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)	24						GAGTTTACCAGCTTGGATGCC	0.388000													66	124					3.83446e-41	6.36853e-41	1	1	0
MXRA5	25878	broad.mit.edu	37	X	3235270	3235270	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chrX:3235270G>T	ENST00000217939.6	-	6	6606	c.6452C>A	c.(6451-6453)aCc>aAc	p.T2151N		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2151	Ig-like C2-type 6.					extracellular region		p.T2151N(2)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CCGCGGGGAGGTGCCCGTGAT	0.711000													18	4					8.24728e-16	1.0432e-15	1	1	0
NPY2R	4887	broad.mit.edu	37	4	156135190	156135190	+	Silent	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr4:156135190C>A	ENST00000329476.3	+	2	588	c.99C>A	c.(97-99)gtC>gtA	p.V33V	NPY2R_ENST00000506608.1_Silent_p.V33V	NM_000910.2	NP_000901.1	P49146	NPY2R_HUMAN	neuropeptide Y receptor Y2	33					cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis	integral to plasma membrane	calcium channel regulator activity	p.P34T(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1)	36	all_hematologic(180;0.24)	Renal(120;0.0854)				GTGAACTGGTCCCTGACCCTG	0.473000													32	71					2.42023e-17	3.14466e-17	1	1	0
CCDC63	160762	broad.mit.edu	37	12	111321993	111321993	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr12:111321993C>A	ENST00000308208.5	+	8	1255	c.1013C>A	c.(1012-1014)aCg>aAg	p.T338K	CCDC63_ENST00000552694.1_Missense_Mutation_p.T259K|CCDC63_ENST00000545036.1_Missense_Mutation_p.T298K	NM_152591.1	NP_689804.1	Q8NA47	CCD63_HUMAN	coiled-coil domain containing 63	338								p.T338K(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(1)	39						GCTCGGTTCACGTATGTCACG	0.562000													49	114					5.47352e-35	8.73629e-35	1	1	0
SRRM4	84530	broad.mit.edu	37	12	119554754	119554754	+	Nonsense_Mutation	SNP	T	T	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr12:119554754T>A	ENST00000267260.4	+	4	766	c.378T>A	c.(376-378)taT>taA	p.Y126*	RP11-364C11.2_ENST00000537730.1_RNA	NM_194286.3	NP_919262.2	A7MD48	SRRM4_HUMAN	serine/arginine repetitive matrix 4	126	Lys-rich.|Ser-rich.				cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding	p.Y126*(2)|p.Y223*(1)		breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						CCTCATCCTATAGCCCATCGC	0.473000													11	45					0	0	1	0	0
CASS4	57091	broad.mit.edu	37	20	55012236	55012236	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr20:55012236C>A	ENST00000371336.3	+	2	254	c.53C>A	c.(52-54)gCa>gAa	p.A18E	CASS4_ENST00000434344.1_Missense_Mutation_p.A18E|CASS4_ENST00000360314.3_Missense_Mutation_p.A18E	NM_001164114.1|NM_020356.3	NP_001157586.1|NP_065089.2	Q9NQ75	CASS4_HUMAN	Cas scaffolding protein family member 4	18	SH3.				cell adhesion	cytoplasm|cytoskeleton|focal adhesion	two-component sensor activity	p.A18E(1)		breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	54						CTGGCCAGGGCACTTTATGAC	0.557000													83	130					7.4264e-54	1.2856e-53	1	1	0
PIK3CG	5294	broad.mit.edu	37	7	106509787	106509787	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr7:106509787G>A	ENST00000359195.3	+	2	2091	c.1781G>A	c.(1780-1782)aGt>aAt	p.S594N	PIK3CG_ENST00000440650.2_Missense_Mutation_p.S594N|PIK3CG_ENST00000496166.1_Missense_Mutation_p.S594N	NM_002649.2	NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	594					G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding	p.S594N(1)		breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						AAGCTATTTAGTTCAGTGAAA	0.428000													32	80					0	0	1	0	0
HS3ST1	9957	broad.mit.edu	37	4	11401489	11401489	+	Silent	SNP	T	T	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr4:11401489T>A	ENST00000002596.5	-	2	1315	c.141A>T	c.(139-141)ccA>ccT	p.P47P		NM_005114.2	NP_005105.1	O14792	HS3S1_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 1	47						Golgi lumen|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity	p.P47P(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|skin(3)	15						CAGAGCCGTTTGGGGCCACGC	0.692000													11	16					0	0	1	0	0
TRPC6	7225	broad.mit.edu	37	11	101359765	101359765	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr11:101359765C>T	ENST00000344327.3	-	4	1620	c.1196G>A	c.(1195-1197)cGa>cAa	p.R399Q	TRPC6_ENST00000348423.4_Intron|TRPC6_ENST00000532133.1_Missense_Mutation_p.R399Q|TRPC6_ENST00000360497.4_Intron	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel, subfamily C, member 6	399					axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding	p.R399Q(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		TGTCTGCTGTCGTAAACCAGA	0.448000													9	34					0	0	1	0	0
CXXC1	30827	broad.mit.edu	37	18	47810186	47810186	+	Splice_Site	SNP	C	C	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr18:47810186C>T	ENST00000285106.6	-	11	2128		c.e11-1		CXXC1_ENST00000589940.1_Splice_Site|CXXC1_ENST00000412036.2_Splice_Site	NM_001101654.1|NM_014593.3	NP_001095124.1|NP_055408.2	Q9P0U4	CXXC1_HUMAN	CXXC finger protein 1						histone H3-K4 methylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck|Set1C/COMPASS complex	protein binding|unmethylated CpG binding|zinc ion binding	p.?(1)		autonomic_ganglia(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	24						CCTCGTTGCTCTGCATGGAAT	0.577000													27	429					0	0	1	0	0
BCAS3	54828	broad.mit.edu	37	17	59161869	59161869	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr17:59161869C>T	ENST00000589222.1	+	22	2437	c.2369C>T	c.(2368-2370)tCa>tTa	p.S790L	BCAS3_ENST00000390652.5_Missense_Mutation_p.S805L|BCAS3_ENST00000407086.3_Missense_Mutation_p.S790L|BCAS3_ENST00000408905.3_Missense_Mutation_p.S790L|BCAS3_ENST00000588874.1_Missense_Mutation_p.S561L|BCAS3_ENST00000585744.1_Missense_Mutation_p.S576L|BCAS3_ENST00000588462.1_Missense_Mutation_p.S805L			Q9H6U6	BCAS3_HUMAN	breast carcinoma amplified sequence 3	805						nucleus		p.S805L(1)		NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44			BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)			ATGCCAGGGTCATCCCGTCCA	0.473000													21	82					0	0	1	0	0
ARHGAP12	94134	broad.mit.edu	37	10	32197269	32197269	+	Missense_Mutation	SNP	T	T	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr10:32197269T>A	ENST00000375250.5	-	3	756	c.515A>T	c.(514-516)aAt>aTt	p.N172I	ARHGAP12_ENST00000396144.4_Missense_Mutation_p.N172I|ARHGAP12_ENST00000311380.4_Missense_Mutation_p.N172I|ARHGAP12_ENST00000344936.2_Missense_Mutation_p.N172I|ARHGAP12_ENST00000375245.4_Missense_Mutation_p.N172I	NM_001270696.1	NP_001257625.1	Q8IWW6	RHG12_HUMAN	Rho GTPase activating protein 12	172					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	p.N172I(1)		NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(11)|lung(10)|skin(1)|urinary_tract(2)	31		Prostate(175;0.0199)				GCGTGTCCTATTCTGGCTGGA	0.443000													133	247					0	0	1	0	0
RABGAP1	23637	broad.mit.edu	37	9	125748687	125748687	+	Missense_Mutation	SNP	A	A	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr9:125748687A>T	ENST00000373647.4	+	4	713	c.579A>T	c.(577-579)gaA>gaT	p.E193D		NM_012197.3	NP_036329.3	Q9Y3P9	RBGP1_HUMAN	RAB GTPase activating protein 1	193	PID.				cell cycle	centrosome|cytosol|microtubule associated complex	Rab GTPase activator activity|tubulin binding	p.E121D(1)|p.E193D(1)		breast(3)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|prostate(4)|stomach(3)|upper_aerodigestive_tract(1)	41						ATGTGTCTGAAGGAATTGTGA	0.403000													183	214					0	0	1	0	0
WDR93	56964	broad.mit.edu	37	15	90245192	90245192	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr15:90245192G>T	ENST00000268130.7	+	2	316	c.215G>T	c.(214-216)tGg>tTg	p.W72L	WDR93_ENST00000558000.1_Missense_Mutation_p.W72L|WDR93_ENST00000560294.1_Missense_Mutation_p.W72L	NM_020212.1	NP_064597.1	Q6P2C0	WDR93_HUMAN	WD repeat domain 93	72					electron transport chain	mitochondrial inner membrane	oxidoreductase activity, acting on NADH or NADPH	p.W72L(1)		NS(1)|breast(3)|endometrium(2)|kidney(4)|large_intestine(5)|liver(2)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	33	Lung NSC(78;0.0237)|all_lung(78;0.0478)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|BRCA - Breast invasive adenocarcinoma(143;0.128)			GACCAGTCTTGGGAAATTATT	0.502000													42	59					9.39024e-22	1.30597e-21	1	1	0
SNTG2	54221	broad.mit.edu	37	2	1168851	1168851	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr2:1168851C>A	ENST00000308624.5	+	8	702	c.573C>A	c.(571-573)aaC>aaA	p.N191K	SNTG2_ENST00000407292.1_Intron|SNTG2_ENST00000467759.1_3'UTR	NM_018968.3	NP_061841.2	Q9NY99	SNTG2_HUMAN	syntrophin, gamma 2	191					central nervous system development	cytoplasm|cytoskeleton|sarcolemma|syntrophin complex	actin binding|PDZ domain binding	p.N191K(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		TGCATCTGAACGGAAACTCCA	0.448000													161	338					4.95515e-46	8.32639e-46	1	1	0
PRPF19	27339	broad.mit.edu	37	11	60666746	60666746	+	Missense_Mutation	SNP	T	T	G			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr11:60666746T>G	ENST00000227524.4	-	11	1064	c.859A>C	c.(859-861)Act>Cct	p.T287P		NM_014502.4	NP_055317.1	Q9UMS4	PRP19_HUMAN	pre-mRNA processing factor 19	287					DNA repair|protein polyubiquitination|spliceosome assembly	catalytic step 2 spliceosome|nuclear speck|spindle|ubiquitin ligase complex	DNA binding|identical protein binding|ubiquitin-ubiquitin ligase activity	p.T287P(2)		haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1)	22						ATCCTGATAGTGGCATCGGGG	0.488000											OREG0020994	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	56					0	0	1	0	0
MIR509-3	100126337	broad.mit.edu	37	X	146341225	146341225	+	RNA	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chrX:146341225C>A	ENST00000390725.1	-	0	19					NR_030629.1																						ATGATTGCCACGTCTGCAGTA	0.443000													380	368					6.74202e-176	1.29203e-175	1	1	0
ANK2	287	broad.mit.edu	37	4	114158753	114158753	+	Splice_Site	SNP	A	A	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr4:114158753A>T	ENST00000357077.4	+	7	722		c.e7-1		ANK2_ENST00000394537.3_Splice_Site|ANK2_ENST00000506722.1_Splice_Site|ANK2_ENST00000264366.6_Splice_Site	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal						axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	p.?(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		ACACTGCTTCAGATGATGGTG	0.363000													41	62					0	0	1	0	0
DCDC2B	149069	broad.mit.edu	37	1	32678391	32678391	+	Silent	SNP	G	G	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr1:32678391G>A	ENST00000409358.1	+	6	711	c.711G>A	c.(709-711)caG>caA	p.Q237Q		NM_001099434.1	NP_001092904.1	A2VCK2	DCD2B_HUMAN	doublecortin domain containing 2B	237					intracellular signal transduction			p.Q237Q(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)	11		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				CCCACAGGCAGGGGGTAGGTG	0.557000													12	44					0	0	1	0	0
LDB3	11155	broad.mit.edu	37	10	88478508	88478508	+	Missense_Mutation	SNP	A	A	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr10:88478508A>T	ENST00000429277.2	+	12	2042	c.1897A>T	c.(1897-1899)Aca>Tca	p.T633S	LDB3_ENST00000352360.5_Missense_Mutation_p.T371S|LDB3_ENST00000361373.4_Missense_Mutation_p.T628S|LDB3_ENST00000458213.2_Missense_Mutation_p.T518S|LDB3_ENST00000263066.6_Missense_Mutation_p.T518S	NM_001171610.1	NP_001165081.1	O75112	LDB3_HUMAN	LIM domain binding 3	628	LIM zinc-binding 2.					cytoskeleton|perinuclear region of cytoplasm|pseudopodium	zinc ion binding	p.T628S(1)|p.T633S(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|soft_tissue(1)	25						CTTGAGACAGACATGGCACAC	0.577000													34	53					0	0	1	0	0
KLF4	9314	broad.mit.edu	37	9	110248160	110248160	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr9:110248160C>A	ENST00000374672.4	-	5	1785	c.1312G>T	c.(1312-1314)Gcc>Tcc	p.A438S		NM_004235.4	NP_004226.3	O43474	KLF4_HUMAN	Kruppel-like factor 4 (gut)	472					fat cell differentiation|mesodermal cell fate determination|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|stem cell maintenance|transcription from RNA polymerase II promoter	nucleus	RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor recruiting transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	p.A429S(1)		breast(1)|central_nervous_system(3)|endometrium(5)|large_intestine(1)|lung(3)|pancreas(1)|prostate(2)	16						TCTGAGCGGGCGAATTTCCAT	0.493000													7	40					3.86212e-05	4.14418e-05	1	1	0
KIAA0391	9692	broad.mit.edu	37	14	35596743	35596743	+	Translation_Start_Site	SNP	T	T	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr14:35596743T>A	ENST00000605870.1	+	0	296				KIAA0391_ENST00000603588.1_3'UTR|KIAA0391_ENST00000557565.1_Missense_Mutation_p.Y365N|KIAA0391_ENST00000603544.1_Missense_Mutation_p.Y349N|KIAA0391_ENST00000534898.4_Missense_Mutation_p.Y365N|KIAA0391_ENST00000250377.7_Missense_Mutation_p.Y270N|KIAA0391_ENST00000321130.10_Missense_Mutation_p.Y349N|KIAA0391_ENST00000604948.1_Missense_Mutation_p.Y270N	NM_001256680.1|NM_001256681.1	NP_001243609.1|NP_001243610.1	O15091	MRRP3_HUMAN	KIAA0391						tRNA processing	mitochondrion		p.Y365N(1)		central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	14	Breast(36;0.0545)|Hepatocellular(127;0.158)|Prostate(35;0.184)		Lung(238;2.93e-05)|LUAD - Lung adenocarcinoma(48;3.86e-05)|Epithelial(34;0.0114)|all cancers(34;0.0277)	GBM - Glioblastoma multiforme(112;0.0593)		TCCAGAAGAATATGAATGTCT	0.363000													41	187					0	0	1	0	0
TCF4	6925	broad.mit.edu	37	18	52896212	52896212	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr18:52896212C>A	ENST00000354452.3	-	18	2356	c.1745G>T	c.(1744-1746)cGt>cTt	p.R582L	TCF4_ENST00000561831.3_Missense_Mutation_p.R418L|TCF4_ENST00000566286.1_Missense_Mutation_p.R575L|TCF4_ENST00000564403.2_Missense_Mutation_p.R588L|TCF4_ENST00000564999.1_Missense_Mutation_p.R578L|TCF4_ENST00000543082.1_Missense_Mutation_p.R536L|TCF4_ENST00000537578.1_Missense_Mutation_p.R558L|TCF4_ENST00000561992.1_Missense_Mutation_p.R448L|TCF4_ENST00000567880.1_Missense_Mutation_p.R518L|TCF4_ENST00000565018.2_Missense_Mutation_p.R582L|TCF4_ENST00000398339.1_Missense_Mutation_p.R684L|TCF4_ENST00000356073.4_Missense_Mutation_p.R578L|TCF4_ENST00000568673.1_Missense_Mutation_p.R558L|TCF4_ENST00000570287.2_Missense_Mutation_p.R418L|TCF4_ENST00000537856.3_Missense_Mutation_p.R448L|TCF4_ENST00000566279.1_Missense_Mutation_p.R522L|TCF4_ENST00000544241.2_Missense_Mutation_p.R511L|TCF4_ENST00000457482.3_Missense_Mutation_p.R422L|TCF4_ENST00000564228.1_Missense_Mutation_p.R507L|TCF4_ENST00000568740.1_Missense_Mutation_p.R553L|TCF4_ENST00000540999.1_Missense_Mutation_p.R554L|TCF4_ENST00000570177.2_Missense_Mutation_p.R448L	NM_001083962.1	NP_001077431.1	P15884	ITF2_HUMAN	transcription factor 4	578	Helix-loop-helix motif.				positive regulation of neuron differentiation|protein-DNA complex assembly|transcription initiation from RNA polymerase II promoter	transcription factor complex	E-box binding|protein C-terminus binding|protein heterodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity|TFIIB-class binding transcription factor activity|TFIIB-class transcription factor binding	p.R578L(1)|p.R684L(1)		breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	41				Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718)		GTTGATGTCACGGACCCGCAG	0.592000													109	168					1.95696e-54	3.41871e-54	1	1	0
SIK3	23387	broad.mit.edu	37	11	116728895	116728895	+	Nonsense_Mutation	SNP	G	G	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr11:116728895G>A	ENST00000375300.1	-	20	3147	c.3142C>T	c.(3142-3144)Caa>Taa	p.Q1048*	SIK3_ENST00000434315.2_Nonsense_Mutation_p.Q829*|SIK3_ENST00000542607.1_Nonsense_Mutation_p.Q930*|SIK3_ENST00000375288.1_Nonsense_Mutation_p.Q325*|SIK3_ENST00000488337.1_5'UTR|SIK3_ENST00000446921.2_Nonsense_Mutation_p.Q988*|SIK3_ENST00000292055.4_Nonsense_Mutation_p.Q990*			Q9Y2K2	SIK3_HUMAN	SIK family kinase 3	990						cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	p.Q1096*(1)		breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						TCAGCATTTTGATAAGATAAA	0.552000													9	37					0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21224784	21224784	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr2:21224784C>T	ENST00000233242.1	-	29	13637	c.13510G>A	c.(13510-13512)Gac>Aac	p.D4504N		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	4504					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	p.D4504N(1)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	GAGAGTTGGTCTGAAAAATCT	0.358000													18	49					0	0	1	0	0
ERCC6L2	375748	broad.mit.edu	37	9	98678647	98678647	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr9:98678647G>T	ENST00000288985.7	+	6	1427	c.1122G>T	c.(1120-1122)aaG>aaT	p.K374N	ERCC6L2_ENST00000437817.1_Missense_Mutation_p.K185N|ERCC6L2_ENST00000466840.1_3'UTR	NM_001010895.2	NP_001010895.1	Q5T890	RAD26_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 6-like 2	374					DNA repair	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding	p.K374N(1)									TTGCCAAAAAGATGTCTGGCT	0.453000													40	49					2.68985e-26	3.89213e-26	1	1	0
RYR2	6262	broad.mit.edu	37	1	237664075	237664075	+	Silent	SNP	T	T	C			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr1:237664075T>C	ENST00000366574.2	+	21	2585	c.2268T>C	c.(2266-2268)agT>agC	p.S756S	RYR2_ENST00000360064.6_Silent_p.S754S|RYR2_ENST00000542537.1_Silent_p.S740S	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	756	B30.2/SPRY 1.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.S754S(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			ATGTCATCAGTTGCTGTTTAG	0.413000													191	558					0	0	1	0	0
KLHDC7B	113730	broad.mit.edu	37	22	50987690	50987690	+	Silent	SNP	C	C	T	rs147168342	byFrequency	TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr22:50987690C>T	ENST00000395676.2	+	1	1229	c.1095C>T	c.(1093-1095)tcC>tcT	p.S365S		NM_138433.3	NP_612442.2	Q96G42	KLD7B_HUMAN	kelch domain containing 7B	365								p.S266S(1)		central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	14		all_cancers(38;1.53e-10)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		OV - Ovarian serous cystadenocarcinoma(4;7.49e-69)|all cancers(3;9.79e-66)|Epithelial(4;1.3e-63)|GBM - Glioblastoma multiforme(4;0.000399)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		TCCGTGGCTCCGGTGCCAAGG	0.672000													2	1					0	0	1	0	0
KIF16B	55614	broad.mit.edu	37	20	16348432	16348432	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr20:16348432C>A	ENST00000408042.1	-	23	3695	c.3538G>T	c.(3538-3540)Gat>Tat	p.D1180Y	KIF16B_ENST00000378003.2_Intron|KIF16B_ENST00000355755.3_Intron|KIF16B_ENST00000354981.2_Intron	NM_001199866.1	NP_001186795.1	Q96L93	KI16B_HUMAN	kinesin family member 16B	0					cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity	p.D1180Y(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						GCAGCGGCATCAGGCTCTGGC	0.488000													29	45					5.71845e-15	7.18568e-15	1	1	0
PCDHB4	56131	broad.mit.edu	37	5	140502607	140502607	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr5:140502607C>A	ENST00000194152.1	+	1	1027	c.1027C>A	c.(1027-1029)Ccc>Acc	p.P343T		NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN		343	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding	p.P343T(1)		autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GAATGACAATCCCCCAGAACT	0.443000													71	212					6.44082e-31	9.68658e-31	1	1	0
NLRP4	147945	broad.mit.edu	37	19	56392837	56392837	+	Splice_Site	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr19:56392837C>A	ENST00000301295.6	+	10	3291	c.2867_splice	c.e10-1	p.L957_splice	NLRP4_ENST00000587891.1_Splice_Site_p.L882_splice|NLRP4_ENST00000346986.5_Splice_Site_p.L901_splice	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	957				L -> P (in Ref. 4; AAL88672).			ATP binding	p.L957M(1)		breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		TTTTACCAGGCTGAGAAAAAC	0.418000													13	18					1.67942e-08	1.91694e-08	1	1	0
ARFGEF1	10565	broad.mit.edu	37	8	68208800	68208800	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr8:68208800C>A	ENST00000262215.3	-	5	894	c.505G>T	c.(505-507)Ggg>Tgg	p.G169W		NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	169					exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding	p.G169W(1)		breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			AGTACAGTCCCTTCATGAATT	0.328000													38	78					5.04308e-16	6.40728e-16	1	1	0
ABCC10	89845	broad.mit.edu	37	6	43400557	43400557	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr6:43400557C>T	ENST00000244533.3	+	1	1069	c.710C>T	c.(709-711)gCc>gTc	p.A237V	ABCC10_ENST00000443426.2_Intron|ABCC10_ENST00000372530.4_Missense_Mutation_p.A280V	NM_033450.2	NP_258261.2	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	280						integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	p.A237V(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			TTGTATGGGGCCTTTGGACGG	0.622000													8	9					0	0	1	0	0
UHRF1BP1L	23074	broad.mit.edu	37	12	100444041	100444041	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr12:100444041C>A	ENST00000279907.7	-	17	3835	c.3623G>T	c.(3622-3624)gGg>gTg	p.G1208V	UHRF1BP1L_ENST00000545232.2_Missense_Mutation_p.G858V	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN	UHRF1 binding protein 1-like	1208								p.G1208V(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						TGTATCTTCCCCTCGGATGTC	0.388000													17	49					4.7796e-09	5.51049e-09	1	1	0
PCDHA4	56144	broad.mit.edu	37	5	140188720	140188720	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr5:140188720C>A	ENST00000530339.1	+	1	1948	c.1948C>A	c.(1948-1950)Ctg>Atg	p.L650M	PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000356878.4_Missense_Mutation_p.L650M|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Missense_Mutation_p.L650M|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018907.2	NP_061730.1												p.L650M(2)		breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTACTGGTACTGGTGAAGGA	0.677000													43	36					5.73332e-34	8.95147e-34	1	1	0
CHL1	10752	broad.mit.edu	37	3	433422	433422	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr3:433422G>T	ENST00000256509.2	+	23	3498	c.2856G>T	c.(2854-2856)tgG>tgT	p.W952C	CHL1_ENST00000397491.2_Missense_Mutation_p.W936C	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	O00533	CHL1_HUMAN	cell adhesion molecule L1-like	936	Fibronectin type-III 4.				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix		p.W952C(1)		NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		CTTTATCTTGGGGACTACCTA	0.323000													40	21					6.07928e-31	9.16691e-31	1	1	0
XIRP1	165904	broad.mit.edu	37	3	39229235	39229235	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr3:39229235G>T	ENST00000340369.3	-	2	1930	c.1702C>A	c.(1702-1704)Cag>Aag	p.Q568K	XIRP1_ENST00000421646.1_Intron|XIRP1_ENST00000396251.1_Missense_Mutation_p.Q568K	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	568	Interaction with CTNNB1 (By similarity).						actin binding	p.Q568K(1)		breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		TGTCGTTCCTGCTGCTCCCGT	0.617000													17	4					2.41591e-17	3.14466e-17	1	1	0
PLCXD2	257068	broad.mit.edu	37	3	111427042	111427042	+	Nonsense_Mutation	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr3:111427042G>T	ENST00000393934.3	+	2	1003	c.433G>T	c.(433-435)Gaa>Taa	p.E145*	PLCXD2_ENST00000477665.1_Nonsense_Mutation_p.E145*	NM_153268.3	NP_695000.1	Q0VAA5	PLCX2_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 2	145	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity	p.E145*(1)		endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)	17						TGGGCTGATGGAAATTGACTC	0.493000													39	100					4.64027e-19	6.1548e-19	1	1	0
PROX1	5629	broad.mit.edu	37	1	214170382	214170382	+	Silent	SNP	G	G	C			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr1:214170382G>C	ENST00000366958.4	+	2	1112	c.504G>C	c.(502-504)cgG>cgC	p.R168R	PROX1_ENST00000435016.1_Silent_p.R168R|PROX1_ENST00000261454.4_Silent_p.R168R|PROX1_ENST00000498508.2_Silent_p.R168R	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN	prospero homeobox 1	168					aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis	cytoplasm|nucleus	DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding	p.R168R(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		AGCGCGCCCGGGTTGAGAATA	0.532000													14	58					0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77767417	77767417	+	Missense_Mutation	SNP	A	A	G			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr8:77767417A>G	ENST00000521891.2	+	10	8708	c.8260A>G	c.(8260-8262)Aca>Gca	p.T2754A	ZFHX4_ENST00000455469.2_Missense_Mutation_p.T2709A|ZFHX4_ENST00000050961.6_Missense_Mutation_p.T2709A|ZFHX4_ENST00000518282.1_Missense_Mutation_p.T2728A	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2709						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.T2738A(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TACAGTGTCAACACCTGTTAG	0.383000										HNSCC(33;0.089)			28	43					0	0	1	0	0
NR6A1	2649	broad.mit.edu	37	9	127300525	127300525	+	Nonsense_Mutation	SNP	G	G	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr9:127300525G>A	ENST00000487099.2	-	6	827	c.670C>T	c.(670-672)Caa>Taa	p.Q224*	NR6A1_ENST00000373584.3_Nonsense_Mutation_p.Q220*|NR6A1_ENST00000416460.2_Nonsense_Mutation_p.Q219*|NR6A1_ENST00000344523.4_Nonsense_Mutation_p.Q223*	NM_001278546.1	NP_001265475.1	Q15406	NR6A1_HUMAN	nuclear receptor subfamily 6, group A, member 1	224	Sufficient for interaction with UIMC1 (By similarity).				cell proliferation|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|spermatogenesis	transcription factor complex	protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	p.Q224*(1)		NS(1)|breast(1)|cervix(1)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	17						GGTATATATTGGTAATGTGGA	0.488000													74	69					0	0	1	0	0
OR10W1	81341	broad.mit.edu	37	11	58034994	58034994	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr11:58034994G>T	ENST00000395079.2	-	1	738	c.337C>A	c.(337-339)Cgc>Agc	p.R113S		NM_207374.3	NP_997257.2	Q8NGF6	O10W1_HUMAN	olfactory receptor, family 10, subfamily W, member 1	113					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R113S(1)		kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(1)	26		Breast(21;0.0589)				GCCACATAGCGGTCATAGGCC	0.532000													69	90					7.79919e-48	1.33004e-47	1	1	0
B3GNT5	84002	broad.mit.edu	37	3	182988136	182988136	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr3:182988136C>T	ENST00000326505.3	+	2	1080	c.550C>T	c.(550-552)Cca>Tca	p.P184S	MCF2L2_ENST00000473233.1_Intron|B3GNT5_ENST00000460419.1_Missense_Mutation_p.P184S|MCF2L2_ENST00000328913.3_Intron|MCF2L2_ENST00000447025.2_Intron|B3GNT5_ENST00000465010.1_Missense_Mutation_p.P184S	NM_032047.4	NP_114436.1	Q9BYG0	B3GN5_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 5	184					central nervous system development|glycolipid biosynthetic process|protein glycosylation	Golgi membrane|integral to membrane	beta-galactosyl-N-acetylglucosaminylgalactosylglucosyl-ceramide beta-1,3-acetylglucosaminyltransferase activity|galactosyltransferase activity	p.P184S(1)		endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	8	all_cancers(143;8.52e-13)|Ovarian(172;0.0355)		all cancers(12;4.52e-44)|Epithelial(37;8.82e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			TACCTATTGTCCACATGCCAA	0.333000													7	151					0	0	1	0	0
GRIN3A	116443	broad.mit.edu	37	9	104448937	104448937	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr9:104448937G>T	ENST00000361820.3	-	2	1845	c.1245C>A	c.(1243-1245)agC>agA	p.S415R		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	415					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding	p.S415R(1)		breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	AGTTCATCGTGCTGGGAATGA	0.478000													62	240					8.07507e-42	1.34506e-41	1	1	0
TMEM66	51669	broad.mit.edu	37	8	29927564	29927564	+	Silent	SNP	C	C	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr8:29927564C>T	ENST00000256255.6	-	3	551	c.294G>A	c.(292-294)aaG>aaA	p.K98K	TMEM66_ENST00000545648.1_5'UTR|TMEM66_ENST00000536273.1_5'UTR	NM_016127.4	NP_057211.4	Q96BY9	TMM66_HUMAN	transmembrane protein 66	98						integral to membrane		p.K98K(1)		endometrium(2)|large_intestine(1)|lung(11)	14				KIRC - Kidney renal clear cell carcinoma(542;0.0993)|Kidney(114;0.119)		CTAAGTCCGTCTTACATTCCC	0.398000													11	163					0	0	1	0	0
ZG16B	124220	broad.mit.edu	37	16	2881957	2881957	+	Missense_Mutation	SNP	T	T	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr16:2881957T>A	ENST00000382280.3	+	4	503	c.424T>A	c.(424-426)Tat>Aat	p.Y142N	ZG16B_ENST00000572863.1_Missense_Mutation_p.Y112N	NM_145252.2	NP_660295.2	Q96DA0	ZG16B_HUMAN	zymogen granule protein 16B	142						extracellular region	sugar binding	p.Y142N(1)		central_nervous_system(1)|lung(2)|ovary(1)|prostate(1)	5						CAAGGACCGCTATTTCTATTT	0.542000													8	13					0	0	1	0	0
PTH2R	5746	broad.mit.edu	37	2	209302298	209302298	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr2:209302298G>T	ENST00000272847.2	+	3	428	c.215G>T	c.(214-216)tGt>tTt	p.C72F	PTH2R_ENST00000413482.1_3'UTR	NM_005048.2	NP_005039.1	P49190	PTH2R_HUMAN	parathyroid hormone 2 receptor	72						integral to plasma membrane	parathyroid hormone receptor activity	p.C72F(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(21)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43				Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)		GGACTCATTTGTTGGCCCAGA	0.333000													24	42					3.90053e-15	4.91209e-15	1	1	0
ELP5	23587	broad.mit.edu	37	17	7160226	7160226	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr17:7160226G>A	ENST00000574993.1	+	5	725	c.508G>A	c.(508-510)Gag>Aag	p.E170K	ELP5_ENST00000354429.2_Missense_Mutation_p.E170K|ELP5_ENST00000396627.2_Missense_Mutation_p.E170K|ELP5_ENST00000396628.2_Missense_Mutation_p.E170K|RP1-4G17.5_ENST00000577138.1_Intron|ELP5_ENST00000356683.2_Missense_Mutation_p.E170K					elongator acetyltransferase complex subunit 5									p.E170K(2)									GCTACATGAAGAGCTTCATGG	0.582000													6	50					0	0	1	0	0
NGDN	25983	broad.mit.edu	37	14	23938924	23938924	+	Translation_Start_Site	SNP	G	G	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr14:23938924G>A	ENST00000397154.3	+	0	13				NGDN_ENST00000408901.3_De_novo_Start_InFrame			Q8NEJ9	NGDN_HUMAN	neuroguidin, EIF4E binding protein						regulation of translation	axon|cytoplasm|dendrite|filopodium|nucleus				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	12	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00654)		GCTTTGCGAAGATGGCGGCGC	0.537000											OREG0022601	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	164					0	0	1	0	0
CTNND2	1501	broad.mit.edu	37	5	11098777	11098777	+	Silent	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr5:11098777G>T	ENST00000304623.8	-	15	2736	c.2547C>A	c.(2545-2547)ccC>ccA	p.P849P	CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000359640.2_Intron|CTNND2_ENST00000458100.2_Silent_p.P416P|CTNND2_ENST00000511377.1_Silent_p.P758P|CTNND2_ENST00000503622.1_Silent_p.P512P	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	849					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding	p.P849P(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						GTGTGAGGTAGGGTTTGACTA	0.562000													43	48					7.22619e-39	1.18303e-38	1	1	0
STAT3	6774	broad.mit.edu	37	17	40483494	40483494	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr17:40483494C>T	ENST00000264657.5	-	11	1417	c.1105G>A	c.(1105-1107)Gac>Aac	p.D369N	STAT3_ENST00000389272.3_Missense_Mutation_p.D271N|STAT3_ENST00000588969.1_Missense_Mutation_p.D369N|STAT3_ENST00000585517.1_Missense_Mutation_p.D369N|STAT3_ENST00000404395.3_Missense_Mutation_p.D369N	NM_003150.3|NM_139276.2	NP_003141.2|NP_644805.1	P40763	STAT3_HUMAN	signal transducer and activator of transcription 3 (acute-phase response factor)	369					cellular component movement|eating behavior|eye photoreceptor cell differentiation|glucose homeostasis|interleukin-6-mediated signaling pathway|interspecies interaction between organisms|JAK-STAT cascade involved in growth hormone signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein import into nucleus|response to estradiol stimulus|sexual reproduction|temperature homeostasis	cytosol|nucleus|plasma membrane	calcium ion binding|ligand-regulated transcription factor activity|protein dimerization activity|protein kinase binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding	p.D369N(1)		breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135)		BRCA - Breast invasive adenocarcinoma(366;0.139)		ACTTACTTGTCAATGCACACT	0.323000									Hyperimmunoglobulin E Recurrent Infection Syndrome				4	22					0	0	1	0	0
POTEF	728378	broad.mit.edu	37	2	130832708	130832708	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr2:130832708C>A	ENST00000357462.5	-	15	2430	c.2337G>T	c.(2335-2337)tgG>tgT	p.W779C	POTEF_ENST00000409914.2_Missense_Mutation_p.W779C			A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F	779	Actin-like.					cell cortex	ATP binding	p.W779C(1)		breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						CCATGTCATCCCAGTTGGTGA	0.577000													42	77					1.22102e-19	1.63851e-19	1	1	0
UTP3	57050	broad.mit.edu	37	4	71555768	71555768	+	Silent	SNP	G	G	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr4:71555768G>A	ENST00000254803.2	+	1	1573	c.1374G>A	c.(1372-1374)gaG>gaA	p.E458E		NM_020368.2	NP_065101.1	Q9NQZ2	SAS10_HUMAN	UTP3, small subunit (SSU) processome component, homolog (S. cerevisiae)	458					brain development|chromatin modification|gene silencing	nucleolus		p.E458E(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(4)	18			Lung(101;0.235)			GTAAAGAAGAGCAACGTTATA	0.388000													71	127					0	0	1	0	0
OR4D2	124538	broad.mit.edu	37	17	56247349	56247349	+	Missense_Mutation	SNP	G	G	C			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr17:56247349G>C	ENST00000545221.1	+	1	333	c.333G>C	c.(331-333)atG>atC	p.M111I		NM_001004707.3	NP_001004707.1	P58180	OR4D2_HUMAN	olfactory receptor, family 4, subfamily D, member 2	111					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.M111I(1)		breast(1)|kidney(1)|large_intestine(1)|lung(19)|ovary(1)|skin(2)|stomach(1)	26						GAGGTGCCATGGTCTTCTTCC	0.547000													85	51					0	0	1	0	0
DROSHA	29102	broad.mit.edu	37	5	31406967	31406967	+	Missense_Mutation	SNP	C	C	G			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr5:31406967C>G	ENST00000511367.2	-	33	4184	c.3940G>C	c.(3940-3942)Gga>Cga	p.G1314R	DROSHA_ENST00000513349.1_Missense_Mutation_p.G1277R|DROSHA_ENST00000442743.1_Missense_Mutation_p.G1277R|DROSHA_ENST00000344624.3_Missense_Mutation_p.G1314R	NM_013235.4	NP_037367.3	Q9NRR4	RNC_HUMAN	drosha, ribonuclease type III	1314	DRBM.|Necessary for interaction with DGCR8 and pri-miRNA processing activity.				gene silencing by RNA|ribosome biogenesis|RNA processing	nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity	p.G1314R(1)		breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1)	66						TACCTTGGTCCTTTCCCACAG	0.463000													31	82					0	0	1	0	0
AFP	174	broad.mit.edu	37	4	74313324	74313324	+	Missense_Mutation	SNP	T	T	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr4:74313324T>A	ENST00000395792.2	+	8	1089	c.989T>A	c.(988-990)cTa>cAa	p.L330Q	AFP_ENST00000226359.2_Missense_Mutation_p.L330Q	NM_001134.1	NP_001125.1	P02771	FETA_HUMAN	alpha-fetoprotein	330	Albumin 2.				transport		metal ion binding	p.L330Q(1)		breast(1)|endometrium(2)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|urinary_tract(1)	22	Breast(15;0.00102)		Epithelial(6;2.42e-05)|all cancers(17;0.000268)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TCTCCAAATCTAAACAGGTTT	0.358000									Alpha-Fetoprotein, Hereditary Persistence of				32	18					0	0	1	0	0
HOXD11	3237	broad.mit.edu	37	2	176973838	176973838	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr2:176973838C>A	ENST00000249504.5	+	2	1055	c.985C>A	c.(985-987)Ctg>Atg	p.L329M	HOXD10_ENST00000490088.2_3'UTR|HOXD11_ENST00000498438.1_3'UTR	NM_021192.2	NP_067015.2	P31277	HXD11_HUMAN	homeobox D11	329						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.L329M(1)						OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0521)|READ - Rectum adenocarcinoma(9;0.0678)		CAGAGACCGTCTGCAGTATTT	0.532000			T	NUP98	AML								54	71					1.55088e-19	2.0965e-19	1	1	0
RASGRF2	5924	broad.mit.edu	37	5	80369234	80369234	+	Missense_Mutation	SNP	A	A	G			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr5:80369234A>G	ENST00000265080.4	+	5	917	c.850A>G	c.(850-852)Atc>Gtc	p.I284V	RASGRF2_ENST00000502677.1_3'UTR	NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 2	284	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	protein binding|Rho guanyl-nucleotide exchange factor activity	p.I284V(1)		biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		GAAGCCCCCCATCAGCCACGA	0.483000													4	29					0	0	1	0	0
POU6F2	11281	broad.mit.edu	37	7	39379247	39379247	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr7:39379247C>T	ENST00000518318.2	+	5	560	c.518C>T	c.(517-519)tCa>tTa	p.S173L	POU6F2_ENST00000517348.1_3'UTR|POU6F2_ENST00000559001.1_Missense_Mutation_p.S165L|POU6F2_ENST00000403058.1_Missense_Mutation_p.S173L			P78424	PO6F2_HUMAN	POU class 6 homeobox 2	173	Gln-rich.				central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.S173L(1)		NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						GTAGCTACCTCATCCCTGAAC	0.567000													13	22					0	0	1	0	0
CTC-260E6.6	0	broad.mit.edu	37	19	20370088	20370088	+	RNA	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr19:20370088G>T	ENST00000593655.1	-	0	199																											GACCCATCCCGCAGAAAGCAC	0.413000													5	35					0.000602214	0.000629129	1	1	0
ABL2	27	broad.mit.edu	37	1	179076967	179076967	+	Silent	SNP	G	G	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr1:179076967G>A	ENST00000502732.1	-	12	3638	c.3435C>T	c.(3433-3435)ctC>ctT	p.L1145L	ABL2_ENST00000344730.3_Silent_p.L1027L|ABL2_ENST00000367623.4_Silent_p.L1124L|ABL2_ENST00000504405.1_Silent_p.L1006L|ABL2_ENST00000408940.3_Silent_p.L1109L|ABL2_ENST00000512653.1_Silent_p.L1130L|ABL2_ENST00000511413.1_Silent_p.L1042L|ABL2_ENST00000507173.1_Silent_p.L1021L	NM_001168236.1|NM_001168237.1|NM_001168238.1|NM_007314.3	NP_001161708.1|NP_001161709.1|NP_001161710.1|NP_009298.1	P42684	ABL2_HUMAN	c-abl oncogene 2, non-receptor tyrosine kinase	1145	F-actin-binding (By similarity).				axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction	cytoskeleton|cytosol	ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding	p.L1145L(1)|p.L1109L(1)		breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	65					Adenosine triphosphate(DB00171)|Dasatinib(DB01254)	CCTGCAGGCTGAGTTCCAGTT	0.507000			T	ETV6	AML								4	46					0	0	1	0	0
PPP2R3B	28227	broad.mit.edu	37	X	308043	308043	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chrX:308043C>A	ENST00000390665.3	-	4	661	c.643G>T	c.(643-645)Gcc>Tcc	p.A215S		NM_013239.4	NP_037371.2	Q9Y5P8	P2R3B_HUMAN	protein phosphatase 2, regulatory subunit B'', beta	215					cell cycle arrest|protein dephosphorylation	nucleus|protein phosphatase type 2A complex	calcium ion binding|protein phosphatase type 2A regulator activity|protein serine/threonine phosphatase activity	p.A215S(1)|p.A215T(1)		endometrium(5)|lung(5)|skin(1)	11		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				ACGAACTTGGCCGCGTCGTCG	0.617000													5	29					0.00116845	0.00121388	1	1	0
CCDC173	129881	broad.mit.edu	37	2	170518803	170518803	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr2:170518803C>A	ENST00000447353.1	-	5	911	c.806G>T	c.(805-807)aGg>aTg	p.R269M		NM_001085447.1	NP_001078916.1			coiled-coil domain containing 173									p.R263M(1)									AAACCGTCTCCTGCTTTCATG	0.313000													251	372					1.68934e-126	3.24561e-126	1	1	0
AP3B2	8120	broad.mit.edu	37	15	83349659	83349659	+	Nonsense_Mutation	SNP	C	C	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr15:83349659C>T	ENST00000261722.3	-	7	908	c.701G>A	c.(700-702)tGg>tAg	p.W234*	RP11-752G15.3_ENST00000560650.1_RNA|AP3B2_ENST00000535359.1_Nonsense_Mutation_p.W234*|AP3B2_ENST00000535348.1_Nonsense_Mutation_p.W202*	NM_004644.3	NP_004635.2	Q13367	AP3B2_HUMAN	adaptor-related protein complex 3, beta 2 subunit	234					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport	clathrin coated vesicle membrane|COPI-coated vesicle|membrane coat	binding|protein transporter activity	p.W234*(1)		breast(4)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(2)	41			BRCA - Breast invasive adenocarcinoma(143;0.229)			CACCTGGCCCCACTCCTCCAC	0.612000													5	28					0	0	1	0	0
AKAP11	11215	broad.mit.edu	37	13	42891710	42891710	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr13:42891710G>A	ENST00000025301.2	+	12	5626	c.5451G>A	c.(5449-5451)atG>atA	p.M1817I		NM_016248.3	NP_057332.1	Q9UKA4	AKA11_HUMAN	A kinase (PRKA) anchor protein 11	1817					intracellular protein kinase cascade	microtubule organizing center	protein kinase A binding|protein phosphatase 1 binding	p.M1817I(1)		breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2)	56		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)		ATATTGACATGGAGCCATGCA	0.373000													8	155					0	0	1	0	0
NLRP3	114548	broad.mit.edu	37	1	247597423	247597423	+	Silent	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr1:247597423C>A	ENST00000366497.2	+	6	3126	c.2346C>A	c.(2344-2346)ctC>ctA	p.L782L	NLRP3_ENST00000391827.2_Silent_p.L725L|NLRP3_ENST00000391828.3_Silent_p.L782L|NLRP3_ENST00000366496.2_Silent_p.L782L|NLRP3_ENST00000336119.3_Silent_p.L782L|NLRP3_ENST00000348069.2_Silent_p.L725L	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	839					detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding	p.L782L(1)		NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			GCTGTGGCCTCTCGCATGAGT	0.562000													73	200					6.79372e-55	1.21378e-54	1	1	0
PIWIL1	9271	broad.mit.edu	37	12	130839524	130839524	+	Silent	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr12:130839524G>T	ENST00000245255.3	+	11	1535	c.1263G>T	c.(1261-1263)gtG>gtT	p.V421V		NM_001190971.1|NM_004764.4	NP_001177900.1|NP_004755.2	Q96J94	PIWL1_HUMAN	piwi-like RNA-mediated gene silencing 1	421					gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development	chromatoid body|P granule	mRNA binding|piRNA binding|protein binding	p.V421V(2)		breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		AGCGTGAAGTGGGACGACTCA	0.378000													156	275					9.2415e-74	1.71672e-73	1	1	0
GPR125	166647	broad.mit.edu	37	4	22422541	22422541	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr4:22422541C>A	ENST00000334304.5	-	12	2046	c.1777G>T	c.(1777-1779)Gtt>Ttt	p.V593F	GPR125_ENST00000508133.1_Missense_Mutation_p.V367F|GPR125_ENST00000502482.1_Missense_Mutation_p.V593F|GPR125_ENST00000282943.5_5'UTR	NM_145290.2	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	593					neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity	p.V593F(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				GTATTTGAAACATTGCACTTA	0.413000													93	420					8.58103e-55	1.52824e-54	1	1	0
CNTLN	54875	broad.mit.edu	37	9	17298192	17298192	+	Missense_Mutation	SNP	G	G	C			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr9:17298192G>C	ENST00000380647.3	+	7	1072	c.988G>C	c.(988-990)Gaa>Caa	p.E330Q	CNTLN_ENST00000425824.1_Splice_Site_p.E330_splice|CNTLN_ENST00000380641.4_Missense_Mutation_p.E330Q|CNTLN_ENST00000262360.5_Splice_Site_p.E330_splice			Q9NXG0	CNTLN_HUMAN	centlein, centrosomal protein	330						centriole|membrane	two-component sensor activity	p.E330Q(1)		breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53				GBM - Glioblastoma multiforme(50;6.14e-10)		GCACAGGAAGGAACTGCAGGA	0.408000													37	41					0	0	1	0	0
DLGAP1	9229	broad.mit.edu	37	18	3742422	3742422	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr18:3742422G>T	ENST00000315677.3	-	6	1858	c.1263C>A	c.(1261-1263)gaC>gaA	p.D421E	DLGAP1_ENST00000400145.2_Missense_Mutation_p.D119E|DLGAP1_ENST00000539435.1_Missense_Mutation_p.D119E|DLGAP1_ENST00000400155.1_Missense_Mutation_p.D127E|DLGAP1_ENST00000515196.2_Missense_Mutation_p.D421E|DLGAP1_ENST00000584874.1_Missense_Mutation_p.D421E|DLGAP1_ENST00000400149.3_Missense_Mutation_p.D129E|DLGAP1_ENST00000581527.1_Missense_Mutation_p.D421E|DLGAP1_ENST00000400147.2_Missense_Mutation_p.D119E|DLGAP1_ENST00000534970.1_Missense_Mutation_p.D133E|DLGAP1_ENST00000581699.1_Missense_Mutation_p.D127E|DLGAP1_ENST00000478161.1_5'UTR|DLGAP1_ENST00000400150.3_Missense_Mutation_p.D127E	NM_004746.3	NP_004737.2	O14490	DLGP1_HUMAN	discs, large (Drosophila) homolog-associated protein 1	421					synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane		p.D421E(1)|p.D119E(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56		Colorectal(8;0.0257)				GGTCCAGGCTGTCCAGGCTCC	0.557000													4	8					5.18039e-06	5.67617e-06	1	1	0
HECTD4	283450	broad.mit.edu	37	12	112744003	112744003	+	Silent	SNP	G	G	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr12:112744003G>A	ENST00000550722.1	-	7	1163	c.768C>T	c.(766-768)ctC>ctT	p.L256L	HECTD4_ENST00000430131.2_Silent_p.L6L|HECTD4_ENST00000377560.5_Silent_p.L256L	NM_001109662.3	NP_001103132.3			HECT domain containing E3 ubiquitin protein ligase 4									p.L256L(1)|p.L6L(1)									TGCCAATGGGGAGGTGATTGG	0.498000													28	30					0	0	1	0	0
FAM179B	23116	broad.mit.edu	37	14	45513851	45513851	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr14:45513851G>T	ENST00000361462.2	+	13	4115	c.3932G>T	c.(3931-3933)cGt>cTt	p.R1311L	FAM179B_ENST00000361577.3_Missense_Mutation_p.R1311L|FAM179B_ENST00000382233.2_3'UTR			Q9Y4F4	F179B_HUMAN	family with sequence similarity 179, member B	1311							binding	p.R1311L(1)		endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						AAAAATTTACGTTCTGGAGTT	0.308000													15	26					3.41278e-10	4.02221e-10	1	1	0
NLRP12	91662	broad.mit.edu	37	19	54314478	54314478	+	Silent	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr19:54314478C>A	ENST00000324134.6	-	3	603	c.435G>T	c.(433-435)gcG>gcT	p.A145A	NLRP12_ENST00000391775.3_Silent_p.A145A|NLRP12_ENST00000535162.1_Silent_p.A145A|NLRP12_ENST00000391773.1_Silent_p.A145A|NLRP12_ENST00000351894.4_Silent_p.A145A|NLRP12_ENST00000391772.1_Silent_p.A145A|NLRP12_ENST00000345770.5_Silent_p.A145A|NLRP12_ENST00000354278.3_Silent_p.A145A	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	145					negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding	p.A145A(1)		NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		CCCCTAGGCGCGCATTGCGGT	0.567000													30	67					2.6416e-12	3.24986e-12	1	1	0
TSPAN7	7102	broad.mit.edu	37	X	38525426	38525426	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chrX:38525426G>T	ENST00000378482.2	+	2	310	c.133G>T	c.(133-135)Ggc>Tgc	p.G45C	TSPAN7_ENST00000422612.2_Missense_Mutation_p.G71C|TSPAN7_ENST00000286824.6_Missense_Mutation_p.G62C|TSPAN7_ENST00000488893.1_3'UTR|TSPAN7_ENST00000545599.1_Missense_Mutation_p.G19C|TM4SF2_ENST00000465127.1_Missense_Mutation_p.G75C	NM_004615.3	NP_004606.2	P41732	TSN7_HUMAN	tetraspanin 7	45					interspecies interaction between organisms	integral to plasma membrane		p.G45C(1)|p.G40C(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	11						ACTTACTCTGGGCACCTATAT	0.502000													47	37					1.67211e-32	2.59131e-32	1	1	0
NLGN3	54413	broad.mit.edu	37	X	70375185	70375185	+	Silent	SNP	C	C	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chrX:70375185C>T	ENST00000374051.3	+	4	961	c.639C>T	c.(637-639)atC>atT	p.I213I	NLGN3_ENST00000358741.3_Silent_p.I233I|NLGN3_ENST00000536169.1_Silent_p.I193I|NLGN3_ENST00000476589.1_3'UTR	NM_018977.3	NP_061850.2	Q9NZ94	NLGN3_HUMAN	neuroligin 3	233					neuron cell-cell adhesion|positive regulation of synaptogenesis|receptor-mediated endocytosis|social behavior|synapse assembly	cell surface|endocytic vesicle|integral to plasma membrane|synapse	neurexin binding|receptor activity	p.I233I(1)|p.I213I(1)		biliary_tract(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	37	Renal(35;0.156)					TCATCGTCATCACCCTCAACT	0.532000													44	196					0	0	1	0	0
LYST	1130	broad.mit.edu	37	1	235909776	235909776	+	Missense_Mutation	SNP	C	C	T	rs147536126	byFrequency	TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr1:235909776C>T	ENST00000389794.3	-	29	8006	c.7832G>A	c.(7831-7833)cGt>cAt	p.R2611H	LYST_ENST00000389793.2_Missense_Mutation_p.R2611H			Q99698	LYST_HUMAN	lysosomal trafficking regulator	2611					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding	p.R2611H(1)		NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			TGCCACTGAACGCATTTTCAT	0.408000													35	42					0	0	1	0	0
ZNF208	7757	broad.mit.edu	37	19	22157153	22157153	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr19:22157153G>T	ENST00000397126.4	-	4	831	c.683C>A	c.(682-684)cCc>cAc	p.P228H	ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	NM_007153.3	NP_009084.2			zinc finger protein 208									p.P228H(3)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				ACATCTGTAGGGTTTCTCTCC	0.363000													62	67					9.12251e-31	1.38692e-30	1	1	0
GUCY1A3	2982	broad.mit.edu	37	4	156631723	156631723	+	Missense_Mutation	SNP	C	C	G			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr4:156631723C>G	ENST00000296518.7	+	6	615	c.406C>G	c.(406-408)Ctt>Gtt	p.L136V	GUCY1A3_ENST00000506455.1_Missense_Mutation_p.L136V|GUCY1A3_ENST00000511108.1_Missense_Mutation_p.L136V|GUCY1A3_ENST00000455639.2_Missense_Mutation_p.L136V|GUCY1A3_ENST00000515602.1_3'UTR|GUCY1A3_ENST00000393832.3_5'UTR|GUCY1A3_ENST00000511507.1_Missense_Mutation_p.L136V|GUCY1A3_ENST00000513574.1_Missense_Mutation_p.L136V			Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3	136				VIKESLGEEVFKICYEEDENILGVVGGTLKDFLNSFSTLLK QSSHCQEAGKRGR -> LSKNLLVKRFLKYVTRKMKTSLGW LEAPLKIFKQLQYPSETEQPLPRSRKKGQ (in Ref. 1).	blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity	p.L136V(1)		central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		CAAAGAATCTCTTGGTGAAGA	0.388000													4	83					0	0	1	0	0
LRRTM3	347731	broad.mit.edu	37	10	68857382	68857382	+	Missense_Mutation	SNP	A	A	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr10:68857382A>T	ENST00000361320.4	+	3	2152	c.1574A>T	c.(1573-1575)tAc>tTc	p.Y525F	CTNNA3_ENST00000433211.1_Intron|CTNNA3_ENST00000494580.1_Intron|CTNNA3_ENST00000373744.4_Intron|LRRTM3_ENST00000485868.1_3'UTR	NM_178011.3	NP_821079.3	Q86VH5	LRRT3_HUMAN	leucine rich repeat transmembrane neuronal 3	525						integral to membrane		p.Y525F(2)		breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	41						TTTCTGGCATACGACCAGCCC	0.398000													42	226					0	0	1	0	0
PRSS42	339906	broad.mit.edu	37	3	46873408	46873408	+	Silent	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr3:46873408C>A	ENST00000429665.1	-	4	749	c.750G>T	c.(748-750)ggG>ggT	p.G250G	PRSS42_ENST00000447340.1_Intron	NM_182702.1	NP_874361.1	Q7Z5A4	PRS42_HUMAN	protease, serine, 42	250	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity	p.G250G(1)		breast(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)	8						CACAGACCATCCCTTTTATTA	0.383000													43	26					1.47857e-17	1.95632e-17	1	1	0
NOP14	8602	broad.mit.edu	37	4	2954074	2954074	+	Silent	SNP	C	C	T	rs149472162	byFrequency	TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr4:2954074C>T	ENST00000416614.2	-	6	863	c.798G>A	c.(796-798)gcG>gcA	p.A266A	NOP14_ENST00000398071.4_Silent_p.A266A|NOP14-AS1_ENST00000503709.1_RNA|NOP14_ENST00000502735.1_Silent_p.A266A|NOP14_ENST00000314262.6_Silent_p.A266A			P78316	NOP14_HUMAN	NOP14 nucleolar protein	266					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	mitochondrion|Noc4p-Nop14p complex|small-subunit processome	snoRNA binding	p.A266A(1)		NS(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(12)|pancreas(1)|skin(1)|urinary_tract(1)	30						TAGAGGGCTGCGCCTTCATTT	0.468000													3	35					0	0	1	0	0
NCOR1P1	149934	broad.mit.edu	37	20	26084304	26084304	+	RNA	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr20:26084304G>T	ENST00000478176.1	-	0	153					NR_003678.1													p.P38T(1)									CCAAATGCTGGATCCTTTAGA	0.393000													15	100					2.48551e-13	3.1055e-13	1	1	0
ITIH5	80760	broad.mit.edu	37	10	7659106	7659106	+	Silent	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr10:7659106G>T	ENST00000256861.6	-	6	870	c.792C>A	c.(790-792)gtC>gtA	p.V264V	ITIH5_ENST00000446830.2_Silent_p.V46V|ITIH5_ENST00000397145.2_Silent_p.V264V|ITIH5_ENST00000397146.2_Silent_p.V264V|ITIH5_ENST00000434980.1_5'UTR|ITIH5_ENST00000298441.6_Silent_p.V50V	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	264					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	p.V264V(2)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						GTTCTCTATTGACGTCATATC	0.403000													131	331					8.9487e-115	1.70756e-114	1	1	0
CSMD3	114788	broad.mit.edu	37	8	113392679	113392679	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr8:113392679G>T	ENST00000297405.5	-	38	6282	c.6038C>A	c.(6037-6039)aCa>aAa	p.T2013K	CSMD3_ENST00000455883.2_Missense_Mutation_p.T1909K|CSMD3_ENST00000352409.3_Missense_Mutation_p.T1943K|CSMD3_ENST00000343508.3_Missense_Mutation_p.T1973K	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2013	CUB 11.					integral to membrane|plasma membrane		p.T1973K(1)|p.T2013K(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ATGGGGTATTGTTGTTCCTGA	0.318000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			46	101					7.91745e-34	1.25118e-33	1	1	0
IGLV6-57	28778	broad.mit.edu	37	22	22550673	22550673	+	RNA	SNP	A	A	C			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr22:22550673A>C	ENST00000390285.2	+	0	436																											GATAGCAGCAATCACACAGTG	0.557000													37	72					0	0	1	0	0
PHACTR4	65979	broad.mit.edu	37	1	28807101	28807101	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr1:28807101G>A	ENST00000373839.3	+	9	2006	c.1745G>A	c.(1744-1746)gGa>gAa	p.G582E	PHACTR4_ENST00000493669.1_3'UTR|PHACTR4_ENST00000373836.3_Missense_Mutation_p.G592E	NM_001048183.1	NP_001041648.1	Q8IZ21	PHAR4_HUMAN	phosphatase and actin regulator 4	582							actin binding|protein phosphatase inhibitor activity	p.G592E(1)		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)		CACCAGATTGGAAACACACTG	0.413000													69	258					0	0	1	0	0
PVR	5817	broad.mit.edu	37	19	45162189	45162189	+	Missense_Mutation	SNP	C	C	A	rs35385129	by1000genomes	TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr19:45162189C>A	ENST00000406449.4	+	6	1171	c.1171C>A	c.(1171-1173)Cgt>Agt	p.R391S	PVR_ENST00000403059.4_Intron|CTB-171A8.1_ENST00000590796.1_RNA|PVR_ENST00000425690.3_Intron|PVR_ENST00000344956.4_Intron	NM_001135770.1	NP_001129242.1	P15151	PVR_HUMAN	poliovirus receptor	0					adherens junction organization|cell adhesion|cell junction assembly|interspecies interaction between organisms|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|susceptibility to natural killer cell mediated cytotoxicity|susceptibility to T cell mediated cytotoxicity	cell junction|cell surface|cytoplasm|extracellular space|integral to membrane|nucleus	cell adhesion molecule binding|receptor activity			large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	6	Lung NSC(12;0.00608)|all_lung(12;0.0148)	Medulloblastoma(540;0.0425)|Ovarian(192;0.0728)|Prostate(69;0.081)|all_neural(266;0.112)		Epithelial(262;0.000601)		CCagagctgccgtaattgagc	0.532000													6	40					8.12818e-05	8.65258e-05	1	1	0
PIGN	23556	broad.mit.edu	37	18	59749964	59749964	+	Missense_Mutation	SNP	C	C	G			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr18:59749964C>G	ENST00000357637.5	-	28	2933	c.2518G>C	c.(2518-2520)Gtt>Ctt	p.V840L	PIGN_ENST00000400334.3_Missense_Mutation_p.V840L	NM_176787.4	NP_789744.1	O95427	PIGN_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class N	840					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	phosphotransferase activity, for other substituted phosphate groups	p.V840L(1)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22		Colorectal(73;0.187)				ATAACAAGAACAAAGGGGATT	0.299000													10	13					0	0	1	0	0
IFI16	3428	broad.mit.edu	37	1	159021844	159021844	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr1:159021844C>A	ENST00000295809.7	+	10	2296	c.2041C>A	c.(2041-2043)Caa>Aaa	p.Q681K	IFI16_ENST00000430894.2_Missense_Mutation_p.Q629K|IFI16_ENST00000340979.6_Missense_Mutation_p.Q569K|IFI16_ENST00000368131.4_Missense_Mutation_p.Q625K|IFI16_ENST00000368132.3_Missense_Mutation_p.Q625K|IFI16_ENST00000448393.2_Missense_Mutation_p.Q569K|IFI16_ENST00000359709.3_Missense_Mutation_p.Q625K			Q16666	IF16_HUMAN	interferon, gamma-inducible protein 16	681	HIN-200 2.				cell proliferation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|monocyte differentiation|negative regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	cytoplasm|nuclear speck|nucleolus	double-stranded DNA binding|protein binding	p.Q625K(1)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0429)					GCTTTGCTCACAAACTAAAGG	0.398000													4	28					1.23904e-05	1.34449e-05	1	1	0
PCDHB16	57717	broad.mit.edu	37	5	140563163	140563163	+	Silent	SNP	T	T	C			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr5:140563163T>C	ENST00000361016.2	+	1	2184	c.1029T>C	c.(1027-1029)aaT>aaC	p.N343N		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN		343	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	p.N343N(1)		breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGAATGACAATCCCCCACAGG	0.517000													24	72					0	0	1	0	0
TAS2R9	50835	broad.mit.edu	37	12	10962482	10962482	+	Missense_Mutation	SNP	C	C	G			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr12:10962482C>G	ENST00000240691.2	-	1	285	c.193G>C	c.(193-195)Gat>Cat	p.D65H		NM_023917.2	NP_076406.1	Q9NYW1	TA2R9_HUMAN	taste receptor, type 2, member 9	65					sensory perception of taste	integral to membrane	taste receptor activity	p.D65H(1)		endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						AAGAAGCCATCTAATGATATT	0.413000													145	210					0	0	1	0	0
OR2AG1	144125	broad.mit.edu	37	11	6807144	6807144	+	Silent	SNP	G	G	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr11:6807144G>A	ENST00000307401.4	+	1	897	c.876G>A	c.(874-876)ctG>ctA	p.L292L		NM_001004489.2	NP_001004489.1	Q9H205	O2AG1_HUMAN	olfactory receptor, family 2, subfamily AG, member 1	292					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L292L(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(13)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)		Epithelial(150;2.19e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		TCTACAGCCTGAGGAATAAGG	0.512000													5	109					0	0	1	0	0
TRBV5-6	28609	broad.mit.edu	37	7	142131907	142131907	+	RNA	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr7:142131907G>T	ENST00000390375.2	-	0	11																											CACTGCATCTGATTCAGGGCT	0.592000													13	20					2.23348e-06	2.46651e-06	1	1	0
SEC16B	89866	broad.mit.edu	37	1	177901902	177901902	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr1:177901902C>A	ENST00000308284.6	-	23	2952	c.2863G>T	c.(2863-2865)Ggc>Tgc	p.G955C	RP4-798P15.3_ENST00000528461.1_3'UTR|SEC16B_ENST00000495165.1_5'UTR|RP4-798P15.3_ENST00000354921.2_5'UTR	NM_033127.2	NP_149118.2	Q96JE7	SC16B_HUMAN	SEC16 homolog B (S. cerevisiae)	955					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane		p.G956C(1)		central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						AGTGAGAGGCCCAGGCCAGCC	0.587000													19	13					2.52088e-20	3.46621e-20	1	1	0
NODAL	4838	broad.mit.edu	37	10	72195389	72195389	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr10:72195389G>T	ENST00000287139.3	-	2	543	c.544C>A	c.(544-546)Ccg>Acg	p.P182T	AC022532.1_ENST00000420338.2_Silent_p.R112R	NM_018055.4	NP_060525.3	Q96S42	NODAL_HUMAN	nodal growth differentiation factor	182					growth	extracellular space	cytokine activity|growth factor activity	p.P182T(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(2)	15						GGGGGCCGCGGCCAGCACTCT	0.637000													7	3					5.68852e-11	6.8044e-11	1	1	0
IGKV1-5	28299	broad.mit.edu	37	2	89247033	89247033	+	RNA	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr2:89247033C>A	ENST00000496168.1	-	0	317																											CTGACTGGCCCGGCAAGTGAT	0.498000													43	107					1.64573e-32	2.5575e-32	1	1	0
ADAMTS1	9510	broad.mit.edu	37	21	28212677	28212677	+	Nonsense_Mutation	SNP	C	C	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr21:28212677C>T	ENST00000284984.2	-	5	2037	c.1583G>A	c.(1582-1584)tGg>tAg	p.W528*		NM_006988.3	NP_008919.3	Q9UHI8	ATS1_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 1	528	Disintegrin.				integrin-mediated signaling pathway|negative regulation of cell proliferation|proteolysis		heparin binding|zinc ion binding	p.W528*(1)		central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(20)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	42		Breast(209;0.000962)		Lung(58;0.215)		GCCATCCGCCCACGGGAAGTG	0.522000													58	53					0	0	1	0	0
KRTAP10-9	386676	broad.mit.edu	37	21	46047579	46047579	+	Missense_Mutation	SNP	A	A	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr21:46047579A>T	ENST00000397911.3	+	1	540	c.491A>T	c.(490-492)cAa>cTa	p.Q164L	TSPEAR_ENST00000323084.4_Intron|KRTAP10-9_ENST00000484861.1_Intron	NM_198690.2	NP_941963.2	P60411	KR109_HUMAN	keratin associated protein 10-9	164	25 X 5 AA repeats of C-C-X(3).					keratin filament		p.Q164L(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(6)	9						TCATGCTGCCAACAGTCTAGC	0.602000													57	245					0	0	1	0	0
THUMPD2	80745	broad.mit.edu	37	2	39997215	39997215	+	Nonsense_Mutation	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr2:39997215C>A	ENST00000505747.1	-	3	334	c.307G>T	c.(307-309)Gga>Tga	p.G103*	THUMPD2_ENST00000260619.6_Nonsense_Mutation_p.G73*|THUMPD2_ENST00000454352.2_Nonsense_Mutation_p.G73*|THUMPD2_ENST00000403537.3_5'UTR	NM_025264.4	NP_079540.2	Q9BTF0	THUM2_HUMAN	THUMP domain containing 2	103							methyltransferase activity	p.G73*(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|skin(1)	17		all_hematologic(82;0.248)				AACCAACTTCCTGGATCTTCA	0.289000													6	18					0.00448238	0.00463951	1	1	0
TMPRSS15	5651	broad.mit.edu	37	21	19687505	19687505	+	Missense_Mutation	SNP	C	C	A	rs139992374		TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr21:19687505C>A	ENST00000284885.3	-	17	2023	c.1990G>T	c.(1990-1992)Ggt>Tgt	p.G664C		NM_002772.2	NP_002763.2	P98073	ENTK_HUMAN	transmembrane protease, serine 15	664	LDL-receptor class A 2.				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity	p.G664C(1)		NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						TGCAGATGACCGTCACAGAGA	0.398000													128	232					6.32167e-57	1.14034e-56	1	1	0
ESYT2	57488	broad.mit.edu	37	7	158529746	158529746	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr7:158529746C>A	ENST00000251527.5	-	19	2538	c.2473G>T	c.(2473-2475)Gat>Tat	p.D825Y	ESYT2_ENST00000435514.2_Missense_Mutation_p.D260Y	NM_020728.2	NP_065779.1	A0FGR8	ESYT2_HUMAN	extended synaptotagmin-like protein 2	853	C2 3.					integral to membrane|plasma membrane		p.D825Y(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(16)|prostate(2)	32						TACCTTTGATCAAACACTGGA	0.463000													65	315					3.25985e-27	4.82527e-27	1	1	0
PHLPP1	23239	broad.mit.edu	37	18	60646229	60646229	+	Silent	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr18:60646229G>T	ENST00000400316.4	+	17	4964	c.3183G>T	c.(3181-3183)cgG>cgT	p.R1061R	PHLPP1_ENST00000262719.5_Silent_p.R1573R	NM_194449.3	NP_919431.2	O60346	PHLP1_HUMAN	PH domain and leucine rich repeat protein phosphatase 1	1573					apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	cytosol|membrane|nucleus	metal ion binding|protein serine/threonine phosphatase activity	p.R1573R(2)|p.R1060R(1)		endometrium(2)|kidney(2)|lung(13)	17						ACTGCAGCCGGGCCAAGGAGA	0.617000													27	27					1.15183e-24	1.66971e-24	1	1	0
MUC17	140453	broad.mit.edu	37	7	100682038	100682038	+	Silent	SNP	A	A	G	rs142442389	byFrequency	TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr7:100682038A>G	ENST00000306151.4	+	3	7405	c.7341A>G	c.(7339-7341)ccA>ccG	p.P2447P		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2447	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	p.P2447P(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CCAGCATACCAACCTCACCTC	0.537000													14	505					0	0	1	0	0
SBSPON	157869	broad.mit.edu	37	8	73993266	73993266	+	Missense_Mutation	SNP	C	C	G			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr8:73993266C>G	ENST00000297354.6	-	2	601	c.397G>C	c.(397-399)Ggg>Cgg	p.G133R	SBSPON_ENST00000519697.1_5'UTR	NM_153225.3	NP_694957.3	Q8IVN8	RPESP_HUMAN	somatomedin B and thrombospondin, type 1 domain containing	133					immune response	extracellular region	polysaccharide binding|scavenger receptor activity	p.G128W(1)|p.G128R(1)									TAGGTGTGCCCGCAGTCCTGG	0.582000													18	260					0	0	1	0	0
PPP1R9A	55607	broad.mit.edu	37	7	94540239	94540239	+	Missense_Mutation	SNP	C	C	T	rs140508899		TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr7:94540239C>T	ENST00000289495.5	+	1	1030	c.814C>T	c.(814-816)Cac>Tac	p.H272Y	PPP1R9A_ENST00000433881.1_Missense_Mutation_p.H272Y|PPP1R9A_ENST00000456331.2_Missense_Mutation_p.H272Y|PPP1R9A_ENST00000433360.1_Missense_Mutation_p.H272Y|PPP1R9A_ENST00000424654.1_Missense_Mutation_p.H272Y|PPP1R9A_ENST00000340694.4_Missense_Mutation_p.H272Y	NM_001166161.1	NP_001159633.1	Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A	272						cell junction|synapse|synaptosome	actin binding	p.H272Y(2)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			AGAGGATGCTCACAAGAGTAA	0.458000										HNSCC(28;0.073)			34	38					0	0	1	0	0
CRYBA4	1413	broad.mit.edu	37	22	27019232	27019232	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr22:27019232G>T	ENST00000354760.3	+	3	109	c.74G>T	c.(73-75)cGg>cTg	p.R25L	CRYBA4_ENST00000466315.1_Intron	NM_001886.2	NP_001877.1	P53673	CRBA4_HUMAN	crystallin, beta A4	25	Beta/gamma crystallin 'Greek key' 1.				camera-type eye development|visual perception	soluble fraction	structural constituent of eye lens	p.R25L(1)		large_intestine(6)|liver(1)|lung(6)|skin(3)|urinary_tract(2)	18						TTCCAGGGCCGGCGGCACGAG	0.602000													14	69					2.21704e-12	2.73353e-12	1	1	0
PER2	8864	broad.mit.edu	37	2	239157729	239157729	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr2:239157729C>A	ENST00000254657.3	-	22	3871	c.3592G>T	c.(3592-3594)Ggc>Tgc	p.G1198C	PER2_ENST00000254658.3_3'UTR|AC096574.4_ENST00000456601.1_RNA	NM_022817.2	NP_073728.1	O15055	PER2_HUMAN	period circadian clock 2	1198	CRY binding domain (By similarity).				circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|signal transducer activity	p.G1198F(1)		NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)		GCGGGCAGGCCGCCCGTCTGC	0.577000													18	58					1.61572e-30	2.44318e-30	1	1	0
LINC00639	283547	broad.mit.edu	37	14	39305004	39305004	+	RNA	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr14:39305004G>T	ENST00000553932.1	-	0	3558																											GACTGACGCTGTTGGCCTTCA	0.602000													16	4					4.96729e-08	5.66392e-08	1	1	0
GPR26	2849	broad.mit.edu	37	10	125447575	125447575	+	Missense_Mutation	SNP	T	T	G			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr10:125447575T>G	ENST00000284674.1	+	3	966	c.913T>G	c.(913-915)Tgc>Ggc	p.C305G		NM_153442.3	NP_703143.1	Q8NDV2	GPR26_HUMAN	G protein-coupled receptor 26	305					activation of adenylate cyclase activity by G-protein signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.C305G(1)		breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	20		Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)				CCGCAAAAGCTGCAAGGAGAT	0.592000													4	32					0	0	1	0	0
NLGN3	54413	broad.mit.edu	37	X	70375176	70375176	+	Silent	SNP	C	C	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chrX:70375176C>T	ENST00000374051.3	+	4	952	c.630C>T	c.(628-630)gtC>gtT	p.V210V	NLGN3_ENST00000358741.3_Silent_p.V230V|NLGN3_ENST00000536169.1_Silent_p.V190V|NLGN3_ENST00000476589.1_3'UTR	NM_018977.3	NP_061850.2	Q9NZ94	NLGN3_HUMAN	neuroligin 3	230					neuron cell-cell adhesion|positive regulation of synaptogenesis|receptor-mediated endocytosis|social behavior|synapse assembly	cell surface|endocytic vesicle|integral to plasma membrane|synapse	neurexin binding|receptor activity	p.V230V(1)|p.V210V(1)		biliary_tract(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	37	Renal(35;0.156)					ATGGCAATGTCATCGTCATCA	0.542000													36	199					0	0	1	0	0
ACTN2	88	broad.mit.edu	37	1	236882306	236882306	+	Silent	SNP	C	C	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr1:236882306C>T	ENST00000366578.4	+	3	520	c.354C>T	c.(352-354)ggC>ggT	p.G118G	ACTN2_ENST00000542672.1_Silent_p.G118G|ACTN2_ENST00000492634.1_3'UTR	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	118	Actin-binding.|CH 1.				focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding	p.G118G(1)		endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			TGTCCATTGGCGCTGAAGGTG	0.512000													14	22					0	0	1	0	0
PIEZO2	63895	broad.mit.edu	37	18	10672688	10672688	+	Splice_Site	SNP	C	C	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr18:10672688C>T	ENST00000302079.6	-	50	7815	c.7817_splice	c.e50+1	p.G2606_splice	PIEZO2_ENST00000538948.1_Splice_Site_p.G626_splice|PIEZO2_ENST00000285141.4_Splice_Site_p.G461_splice|PIEZO2_ENST00000581680.1_5'UTR|PIEZO2_ENST00000580640.1_Splice_Site_p.G2694_splice|PIEZO2_ENST00000503781.3_Splice_Site_p.G2669_splice			Q9H5I5	PIEZ2_HUMAN	piezo-type mechanosensitive ion channel component 2	2669						integral to membrane	ion channel activity	p.G461S(1)|p.G2669S(1)									AGTCCTTACCCATAGCCAGCC	0.438000													8	127					0	0	1	0	0
FAM47A	158724	broad.mit.edu	37	X	34148608	34148608	+	Silent	SNP	A	A	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chrX:34148608A>T	ENST00000346193.3	-	1	1839	c.1788T>A	c.(1786-1788)tcT>tcA	p.S596S		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	596								p.S596S(1)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						GAAGAGAGTCAGAAACGCACT	0.453000													7	75					0	0	1	0	0
FRMPD4	9758	broad.mit.edu	37	X	12735148	12735148	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chrX:12735148C>A	ENST00000380682.1	+	15	3076	c.2570C>A	c.(2569-2571)gCc>gAc	p.A857D		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	857					positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding	p.A847D(1)		breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						CCCACCAGCGCCGAAGGCAAG	0.572000													76	63					5.64992e-62	1.02909e-61	1	1	0
ZNF157	7712	broad.mit.edu	37	X	47271905	47271905	+	Nonsense_Mutation	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chrX:47271905G>T	ENST00000377073.3	+	4	519	c.433G>T	c.(433-435)Gag>Tag	p.E145*		NM_003446.3	NP_003437.2	P51786	ZN157_HUMAN	zinc finger protein 157	145					negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.E145*(1)		central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	11						AGCCTTCCATGAGAAAACAGG	0.388000													109	75					6.95862e-65	1.28414e-64	1	1	0
LRRC37A3	374819	broad.mit.edu	37	17	62856639	62856639	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr17:62856639G>T	ENST00000584306.1	-	11	4155	c.3625C>A	c.(3625-3627)Cca>Aca	p.P1209T	LRRC37A3_ENST00000334962.5_Missense_Mutation_p.P186T|LRRC37A3_ENST00000319651.5_Missense_Mutation_p.P1209T|LRRC37A3_ENST00000400877.3_Missense_Mutation_p.P247T|LRRC37A3_ENST00000339474.5_Missense_Mutation_p.P327T	NM_199340.2	NP_955372.2	O60309	L37A3_HUMAN	leucine rich repeat containing 37, member A3	1209						integral to membrane		p.P1209T(1)		NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|liver(1)|lung(10)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						CTTGGGGCTGGACTTCCGAGC	0.552000													26	14					3.76114e-14	4.73094e-14	1	1	0
ZNF560	147741	broad.mit.edu	37	19	9578658	9578658	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr19:9578658C>A	ENST00000301480.4	-	10	1178	c.965G>T	c.(964-966)tGg>tTg	p.W322L		NM_152476.2	NP_689689.2	Q96MR9	ZN560_HUMAN	zinc finger protein 560	322					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.W322L(1)		NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						ACATTGCTTCCATTCATTGAG	0.388000													80	33					6.64032e-35	1.0674e-34	1	1	0
TRAPPC12	51112	broad.mit.edu	37	2	3405596	3405596	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr2:3405596G>T	ENST00000324266.5	+	3	1291	c.1096G>T	c.(1096-1098)Gca>Tca	p.A366S	TRAPPC12_ENST00000382110.2_Missense_Mutation_p.A366S	NM_016030.5	NP_057114.5	Q8WVT3	TTC15_HUMAN	trafficking protein particle complex 12	366							binding	p.A366S(1)									TGAAAAAGCTGCAGCAAAGAG	0.378000													67	125					3.20846e-33	5.02779e-33	1	1	0
ARHGAP32	9743	broad.mit.edu	37	11	128839021	128839021	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr11:128839021G>T	ENST00000310343.9	-	22	6044	c.6045C>A	c.(6043-6045)agC>agA	p.S2015R	ARHGAP32_ENST00000524655.1_3'UTR|ARHGAP32_ENST00000392657.3_Missense_Mutation_p.S1666R|ARHGAP32_ENST00000527272.1_Missense_Mutation_p.S1666R	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	2015	Interaction with FYN.				cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding	p.S2015R(1)|p.S1666R(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						CAGTCACACTGCTCTGGCGCT	0.562000													18	34					8.34094e-07	9.35853e-07	1	1	0
PGM2	55276	broad.mit.edu	37	4	37841740	37841740	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr4:37841740C>T	ENST00000381967.4	+	6	678	c.578C>T	c.(577-579)tCt>tTt	p.S193F	PGM2_ENST00000544359.1_Missense_Mutation_p.S54F|PGM2_ENST00000537241.1_Missense_Mutation_p.S33F	NM_018290.3	NP_060760.2	Q96G03	PGM2_HUMAN	phosphoglucomutase 2	193					glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	magnesium ion binding|phosphoglucomutase activity|phosphopentomutase activity	p.S193F(1)		breast(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1)	19						AAAGGGATTTCTCAAGCTATT	0.418000													7	212					0	0	1	0	0
ABL2	27	broad.mit.edu	37	1	179079508	179079508	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr1:179079508C>A	ENST00000502732.1	-	11	1937	c.1734G>T	c.(1732-1734)aaG>aaT	p.K578N	ABL2_ENST00000344730.3_Missense_Mutation_p.K563N|ABL2_ENST00000367623.4_Missense_Mutation_p.K557N|ABL2_ENST00000504405.1_Missense_Mutation_p.K542N|ABL2_ENST00000408940.3_Missense_Mutation_p.K542N|ABL2_ENST00000512653.1_Missense_Mutation_p.K563N|ABL2_ENST00000511413.1_Missense_Mutation_p.K578N|ABL2_ENST00000507173.1_Missense_Mutation_p.K557N	NM_001168236.1|NM_001168237.1|NM_001168238.1|NM_007314.3	NP_001161708.1|NP_001161709.1|NP_001161710.1|NP_009298.1	P42684	ABL2_HUMAN	c-abl oncogene 2, non-receptor tyrosine kinase	578					axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction	cytoskeleton|cytosol	ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding	p.K542N(1)|p.K578N(1)		breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	65					Adenosine triphosphate(DB00171)|Dasatinib(DB01254)	GTGTCCGAGTCTTGGAAGGAA	0.522000			T	ETV6	AML								69	164					4.8811e-34	7.75721e-34	1	1	0
NLGN3	54413	broad.mit.edu	37	X	70375182	70375182	+	Silent	SNP	C	C	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chrX:70375182C>T	ENST00000374051.3	+	4	958	c.636C>T	c.(634-636)gtC>gtT	p.V212V	NLGN3_ENST00000358741.3_Silent_p.V232V|NLGN3_ENST00000536169.1_Silent_p.V192V|NLGN3_ENST00000476589.1_3'UTR	NM_018977.3	NP_061850.2	Q9NZ94	NLGN3_HUMAN	neuroligin 3	232					neuron cell-cell adhesion|positive regulation of synaptogenesis|receptor-mediated endocytosis|social behavior|synapse assembly	cell surface|endocytic vesicle|integral to plasma membrane|synapse	neurexin binding|receptor activity	p.V212V(1)|p.V232V(1)		biliary_tract(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	37	Renal(35;0.156)					ATGTCATCGTCATCACCCTCA	0.537000													41	198					0	0	1	0	0
PLCG2	5336	broad.mit.edu	37	16	81957157	81957157	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr16:81957157G>T	ENST00000359376.3	+	22	2589	c.2375G>T	c.(2374-2376)cGt>cTt	p.R792L		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	792	SH3.				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	p.R792L(2)		NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						AGCTTCTGCCGTGGTGCCCTC	0.567000													21	24					3.73988e-18	4.97174e-18	1	1	0
PPP1R3C	5507	broad.mit.edu	37	10	93390364	93390364	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr10:93390364C>A	ENST00000238994.5	-	2	358	c.274G>T	c.(274-276)Ggc>Tgc	p.G92C		NM_005398.5	NP_005389.1	Q9UQK1	PPR3C_HUMAN	protein phosphatase 1, regulatory subunit 3C	92							protein serine/threonine phosphatase activity	p.G92C(1)		breast(1)|endometrium(1)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(1)	12		Colorectal(252;0.235)				AGAGAGAGGCCCTTGGAGTCA	0.478000													21	85					3.83957e-06	4.21526e-06	1	1	0
TRIM48	79097	broad.mit.edu	37	11	55032517	55032517	+	Silent	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr11:55032517C>A	ENST00000417545.2	+	2	272	c.186C>A	c.(184-186)atC>atA	p.I62I		NM_024114.3	NP_077019.2	Q8IWZ4	TRI48_HUMAN	tripartite motif containing 48	46						intracellular	zinc ion binding	p.I62I(1)|p.I46I(1)		endometrium(13)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						GGCAAGACATCCCAATTCTTA	0.458000													21	77					3.83957e-06	4.21526e-06	1	1	0
LILRP2	79166	broad.mit.edu	37	19	55222203	55222203	+	RNA	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr19:55222203G>T	ENST00000413439.1	+	0	1718																											TGAGGCCGCTGACCCTGTCCT	0.637000													17	39					1.2476e-16	1.6164e-16	1	1	0
TRBV9	28586	broad.mit.edu	37	7	142239624	142239624	+	RNA	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr7:142239624G>T	ENST00000390363.2	-	0	302																											GGGAACTGTTGTGCGGAGAAT	0.502000													80	111					2.35497e-27	3.49508e-27	1	1	0
CNGB3	54714	broad.mit.edu	37	8	87738759	87738759	+	Splice_Site	SNP	C	C	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr8:87738759C>T	ENST00000320005.5	-	3	385	c.338_splice	c.e3+1	p.S113_splice	CNGB3_ENST00000519777.1_5'UTR|RP11-386D6.1_ENST00000519041.1_RNA	NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	113					signal transduction|visual perception	integral to membrane	cGMP binding	p.S113N(1)		NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						AAATGCTCACCTGTTTGGACC	0.458000													68	122					0	0	1	0	0
SLC25A22	79751	broad.mit.edu	37	11	792399	792399	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr11:792399C>A	ENST00000320230.5	-	8	1128	c.647G>T	c.(646-648)cGc>cTc	p.R216L	SLC25A22_ENST00000531214.1_Missense_Mutation_p.R216L	NM_001191061.1|NM_024698.5	NP_001177990.1|NP_078974.1	Q9H936	GHC1_HUMAN	solute carrier family 25 (mitochondrial carrier: glutamate), member 22	216						integral to membrane|mitochondrial inner membrane|nucleus	L-glutamate transmembrane transporter activity|protein binding|symporter activity	p.R216L(1)		endometrium(1)|kidney(1)|lung(2)|urinary_tract(1)	5		all_cancers(49;4.75e-06)|all_epithelial(84;0.00204)|Breast(177;0.00234)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;6.27e-26)|Epithelial(43;4.84e-25)|OV - Ovarian serous cystadenocarcinoma(40;2.72e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	L-Glutamic Acid(DB00142)	GGACGCCGGGCGGCCCAGCTG	0.662000													6	6					2.0095e-06	2.22792e-06	1	1	0
CASZ1	54897	broad.mit.edu	37	1	10725565	10725565	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr1:10725565C>T	ENST00000377022.3	-	5	397	c.80G>A	c.(79-81)gGt>gAt	p.G27D	CASZ1_ENST00000478728.2_5'UTR|CASZ1_ENST00000344008.5_Missense_Mutation_p.G27D	NM_001079843.1	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	27					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	p.G27V(1)|p.G27D(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		CTTCAGGCCACCCTTGCGTTT	0.692000													2	1					0	0	1	0	0
SPARCL1	8404	broad.mit.edu	37	4	88416205	88416205	+	Silent	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr4:88416205G>T	ENST00000418378.1	-	4	700	c.129C>A	c.(127-129)ccC>ccA	p.P43P	SPARCL1_ENST00000503414.1_5'UTR|SPARCL1_ENST00000282470.6_Silent_p.P43P	NM_001128310.1	NP_001121782.1	Q14515	SPRL1_HUMAN	SPARC-like 1 (hevin)	43	O-glycosylated at two sites.				signal transduction	extracellular space|proteinaceous extracellular matrix	calcium ion binding	p.P43P(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(2)	21				OV - Ovarian serous cystadenocarcinoma(123;0.00118)		CCCTTAAACTGGGGATTGCAG	0.358000													57	108					6.83469e-46	1.1619e-45	1	1	0
OR52A5	390054	broad.mit.edu	37	11	5153664	5153664	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr11:5153664G>T	ENST00000307388.1	-	1	208	c.209C>A	c.(208-210)gCc>gAc	p.A70D		NM_001005160.2	NP_001005160.1	Q9H2C5	O52A5_HUMAN	olfactory receptor, family 52, subfamily A, member 5	70					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A70D(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(18)|skin(3)	35		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)		AATGTCTGTGGCTGCCAACAT	0.363000													35	87					1.02591e-13	1.28467e-13	1	1	0
HYAL4	23553	broad.mit.edu	37	7	123509169	123509169	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr7:123509169G>T	ENST00000223026.4	+	3	1480	c.842G>T	c.(841-843)cGg>cTg	p.R281L	HYAL4_ENST00000476325.1_Missense_Mutation_p.R281L	NM_012269.2	NP_036401.2	Q2M3T9	HYAL4_HUMAN	hyaluronoglucosaminidase 4	281					fusion of sperm to egg plasma membrane|glycosaminoglycan catabolic process	integral to membrane	hyalurononglucosaminidase activity	p.R281L(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	23						TCCAAATTTCGGGTGCATGAA	0.443000													19	67					6.21321e-17	8.08727e-17	1	1	0
TCEAL6	158931	broad.mit.edu	37	X	101395859	101395859	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chrX:101395859C>A	ENST00000372774.3	-	3	694	c.445G>T	c.(445-447)Gct>Tct	p.A149S	TCEAL6_ENST00000372773.1_Missense_Mutation_p.A149S	NM_001006938.2	NP_001006939.2	Q6IPX3	TCAL6_HUMAN	transcription elongation factor A (SII)-like 6	149					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		p.A149S(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	14						TCCTCCTGAGCCCTTGACACA	0.517000													127	84					2.48536e-91	4.67882e-91	1	1	0
MYO9A	4649	broad.mit.edu	37	15	72197314	72197314	+	Nonsense_Mutation	SNP	G	G	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr15:72197314G>A	ENST00000356056.5	-	20	3191	c.2719C>T	c.(2719-2721)Caa>Taa	p.Q907*	MYO9A_ENST00000444904.1_Nonsense_Mutation_p.Q888*|MYO9A_ENST00000566885.1_Nonsense_Mutation_p.Q527*|MYO9A_ENST00000424560.1_Nonsense_Mutation_p.Q907*|MYO9A_ENST00000564571.1_Nonsense_Mutation_p.Q907*|MYO9A_ENST00000563542.1_5'UTR	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	907	Actin-binding (By similarity).|Myosin head-like 2.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity	p.Q907*(1)		NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						GGTTCTGCTTGACCAAGTGTT	0.328000													27	607					0	0	1	0	0
ADAMTS5	11096	broad.mit.edu	37	21	28304454	28304454	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr21:28304454G>T	ENST00000284987.5	-	6	2039	c.1918C>A	c.(1918-1920)Cag>Aag	p.Q640K	AP001601.2_ENST00000426771.1_RNA	NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	640	Cys-rich.				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding	p.Q640K(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						GCATCAGACTGATAGCCATTT	0.418000													20	189					6.21321e-17	8.08727e-17	1	1	0
LRP1B	53353	broad.mit.edu	37	2	141116451	141116451	+	Silent	SNP	C	C	T	rs138052993	byFrequency	TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr2:141116451C>T	ENST00000389484.3	-	73	12167	c.11196G>A	c.(11194-11196)tcG>tcA	p.S3732S		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3732	LDL-receptor class A 31.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.S3732S(1)		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)		ACATTTGCTCCGACTGTAGGC	0.383000										TSP Lung(27;0.18)			13	406					0	0	1	0	0
AKR7A3	22977	broad.mit.edu	37	1	19610596	19610596	+	Missense_Mutation	SNP	T	T	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr1:19610596T>A	ENST00000361640.4	-	6	1268	c.728A>T	c.(727-729)gAg>gTg	p.E243V		NM_012067.2	NP_036199.2	O95154	ARK73_HUMAN	aldo-keto reductase family 7, member A3 (aflatoxin aldehyde reductase)	243					cellular aldehyde metabolic process	cytosol	aldo-keto reductase (NADP) activity|electron carrier activity	p.E243V(1)		NS(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|ovary(1)|stomach(2)	13		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;1.78e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|GBM - Glioblastoma multiforme(114;0.00276)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GGCAATGCCCTCAAAGTGGTG	0.647000													12	6					0	0	1	0	0
ZXDA	7789	broad.mit.edu	37	X	57935364	57935364	+	Silent	SNP	C	C	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chrX:57935364C>T	ENST00000358697.4	-	1	1703	c.1491G>A	c.(1489-1491)ctG>ctA	p.L497L		NM_007156.4	NP_009087.1	P98168	ZXDA_HUMAN	zinc finger, X-linked, duplicated A	497	Required for interaction with ZXDC.				positive regulation of transcription, DNA-dependent	nucleus	C2H2 zinc finger domain binding|identical protein binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.L497L(1)		breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|prostate(2)|skin(1)	37						TGTGGCCTTTCAGATGTTCGG	0.542000													24	20					0	0	1	0	0
IL2RB	3560	broad.mit.edu	37	22	37532295	37532295	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr22:37532295G>T	ENST00000216223.5	-	7	874	c.676C>A	c.(676-678)Ccc>Acc	p.P226T		NM_000878.3	NP_000869.1	P14784	IL2RB_HUMAN	interleukin 2 receptor, beta	226	Fibronectin type-III.				interspecies interaction between organisms|positive regulation of survival gene product expression|protein complex assembly	external side of plasma membrane|integral to plasma membrane	interleukin-2 receptor activity	p.P226T(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(5)	23					Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)	AAGGCCAGGGGCTGGCTCCAG	0.647000													19	34					4.54149e-19	6.12446e-19	1	1	0
FBN2	2201	broad.mit.edu	37	5	127597560	127597560	+	Nonsense_Mutation	SNP	G	G	C			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr5:127597560G>C	ENST00000508053.1	-	70	9206	c.8232C>G	c.(8230-8232)taC>taG	p.Y2744*	FBN2_ENST00000262464.4_Nonsense_Mutation_p.Y2744*			P35556	FBN2_HUMAN	fibrillin 2	2744					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	p.Y2744*(2)		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)		CCAGTGACAGGTACTGCCCCT	0.438000													53	81					0	0	1	0	0
STON2	85439	broad.mit.edu	37	14	81837395	81837395	+	Missense_Mutation	SNP	C	C	G			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr14:81837395C>G	ENST00000555447.1	-	5	920	c.508G>C	c.(508-510)Gat>Cat	p.D170H	STON2_ENST00000267540.2_Missense_Mutation_p.D170H	NM_001256430.1	NP_001243359.1	Q8WXE9	STON2_HUMAN	stonin 2	170					endocytosis|intracellular protein transport|regulation of endocytosis	clathrin adaptor complex|nucleolus	protein binding	p.D170H(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5)	34				BRCA - Breast invasive adenocarcinoma(234;0.0348)		AGCTGCAGATCTGTATACGAA	0.532000													58	182					0	0	1	0	0
ILF2	3608	broad.mit.edu	37	1	153640105	153640105	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr1:153640105G>A	ENST00000361891.4	-	6	445	c.320C>T	c.(319-321)tCc>tTc	p.S107F	ILF2_ENST00000368681.1_Missense_Mutation_p.S107F	NM_001267809.1|NM_004515.3	NP_001254738.1|NP_004506.2	Q12905	ILF2_HUMAN	interleukin enhancer binding factor 2	107	DZF.				immune response|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus|ribonucleoprotein complex	ATP binding|DNA binding|double-stranded RNA binding|protein binding|transferase activity	p.S107F(1)		cervix(1)|kidney(1)|lung(4)|skin(1)	7	all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			CTTTTTATAGGATCCCACCTG	0.448000													31	384					0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	55721550	55721550	+	Silent	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr10:55721550G>T	ENST00000373965.2	-	23	3386	c.2992C>A	c.(2992-2994)Cga>Aga	p.R998R	PCDH15_ENST00000320301.6_Silent_p.R991R|PCDH15_ENST00000395433.1_Silent_p.R969R|PCDH15_ENST00000395432.2_Silent_p.R954R|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000437009.1_Silent_p.R920R|PCDH15_ENST00000409834.1_Silent_p.R602R|PCDH15_ENST00000395445.1_Silent_p.R998R|PCDH15_ENST00000395430.1_Silent_p.R991R|PCDH15_ENST00000414778.1_Silent_p.R996R|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395438.1_Silent_p.R991R|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000361849.3_Silent_p.R991R	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	991	Cadherin 9.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	p.R991R(2)|p.R996R(2)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				AGATTGACTCGTGTTATTACT	0.348000										HNSCC(58;0.16)			22	110					6.12954e-19	8.18731e-19	1	1	0
RYR1	6261	broad.mit.edu	37	19	38983214	38983214	+	Missense_Mutation	SNP	G	G	T	rs139775280		TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr19:38983214G>T	ENST00000355481.4	+	38	6343	c.6212G>T	c.(6211-6213)cGg>cTg	p.R2071L	RYR1_ENST00000360985.3_Missense_Mutation_p.R2071L|RYR1_ENST00000359596.3_Missense_Mutation_p.R2071L	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	2071	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.R2071L(1)		NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GAGAAAGTGCGGCTGGTGAAG	0.592000													8	10					6.72482e-11	8.02686e-11	1	1	0
FEM1A	55527	broad.mit.edu	37	19	4793326	4793326	+	Missense_Mutation	SNP	A	A	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr19:4793326A>T	ENST00000269856.3	+	1	1599	c.1460A>T	c.(1459-1461)gAc>gTc	p.D487V	AC005523.2_ENST00000601192.1_RNA	NM_018708.2	NP_061178.1	Q9BSK4	FEM1A_HUMAN	fem-1 homolog a (C. elegans)	487					regulation of ubiquitin-protein ligase activity	cytoplasm	binding|ubiquitin-protein ligase activity	p.D487V(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	17		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)		GAGCCCGGAGACTCAGCCCAG	0.642000													13	6					0	0	1	0	0
FRG2B	441581	broad.mit.edu	37	10	135440087	135440087	+	Nonsense_Mutation	SNP	T	T	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr10:135440087T>A	ENST00000443774.1	-	1	209	c.160A>T	c.(160-162)Aag>Tag	p.K54*	FRG2B_ENST00000425520.1_Nonsense_Mutation_p.K54*			Q96QU4	FRG2B_HUMAN	FSHD region gene 2 family, member B	54						nucleus		p.K54*(1)		endometrium(2)|kidney(2)|lung(14)|ovary(1)|prostate(1)	20		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)		TGTATGTGCTTCTCACTGGAA	0.488000													15	21					0	0	1	0	0
PXDN	7837	broad.mit.edu	37	2	1652268	1652268	+	Missense_Mutation	SNP	T	T	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr2:1652268T>A	ENST00000252804.4	-	17	3334	c.3284A>T	c.(3283-3285)cAc>cTc	p.H1095L		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	1095					extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity	p.H1095L(1)		breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		AAGGGGGAGGTGATCTTGTGC	0.582000													6	10					0	0	1	0	0
OR8J1	219477	broad.mit.edu	37	11	56128658	56128658	+	Silent	SNP	C	C	T	rs148720229		TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr11:56128658C>T	ENST00000303039.3	+	1	968	c.936C>T	c.(934-936)tcC>tcT	p.S312S		NM_001005205.2	NP_001005205.2	Q8NGP2	OR8J1_HUMAN	olfactory receptor, family 8, subfamily J, member 1	312					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S312S(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	47	Esophageal squamous(21;0.00448)					TGTGCTATTCCTTTAAAACAA	0.353000													41	54					0	0	1	0	0
MAGEB2	4113	broad.mit.edu	37	X	30237624	30237624	+	Missense_Mutation	SNP	A	A	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chrX:30237624A>T	ENST00000378988.4	+	2	1028	c.927A>T	c.(925-927)gaA>gaT	p.E309D		NM_002364.4	NP_002355.2	O15479	MAGB2_HUMAN	melanoma antigen family B, 2	309	MAGE.						protein binding	p.E309D(2)		breast(1)|large_intestine(3)|lung(17)|ovary(1)|skin(1)	23						ATTACGAAGAAGCTTTGAAAG	0.498000													38	12					0	0	1	0	0
RTDR1	27156	broad.mit.edu	37	22	23401723	23401723	+	Nonsense_Mutation	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr22:23401723C>A	ENST00000216036.4	-	7	1160	c.964G>T	c.(964-966)Gag>Tag	p.E322*		NM_014433.2	NP_055248.1	Q9UHP6	RTDR1_HUMAN	rhabdoid tumor deletion region gene 1	322							binding	p.E322*(1)		breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	18	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.175)		TCGTAAGTCTCCACCTCCATG	0.617000													30	38					1.36161e-19	1.84509e-19	1	1	0
MTHFSD	64779	broad.mit.edu	37	16	86582165	86582165	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr16:86582165C>A	ENST00000322911.6	-	4	303	c.253G>T	c.(253-255)Gtt>Ttt	p.V85F	MTHFSD_ENST00000543303.2_Missense_Mutation_p.V85F|MTHFSD_ENST00000381214.5_Missense_Mutation_p.V86F|MTHFSD_ENST00000360900.6_Missense_Mutation_p.V86F|MTHFSD_ENST00000546093.1_5'UTR|MTHFSD_ENST00000568037.1_5'UTR	NM_001159377.1|NM_022764.2	NP_001152849.1|NP_073601.2	Q2M296	MTHSD_HUMAN	methenyltetrahydrofolate synthetase domain containing	86					folic acid-containing compound biosynthetic process		5-formyltetrahydrofolate cyclo-ligase activity|ATP binding|RNA binding	p.V85F(1)|p.V86F(1)		endometrium(1)|large_intestine(3)|lung(6)|skin(1)	11						GGTGTTGGAACCAACAATGTT	0.358000													9	34					0.00829132	0.0085191	1	1	0
DMXL2	23312	broad.mit.edu	37	15	51829946	51829946	+	Silent	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr15:51829946C>A	ENST00000251076.5	-	11	1643	c.1356G>T	c.(1354-1356)ctG>ctT	p.L452L	DMXL2_ENST00000449909.3_Silent_p.L452L|DMXL2_ENST00000543779.2_Silent_p.L452L	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	452						cell junction|synaptic vesicle membrane	Rab GTPase binding	p.L452L(1)		breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		ATTCTCTATCCAGGGATAAAT	0.338000													47	94					3.57465e-26	5.22234e-26	1	1	0
EPHA5	2044	broad.mit.edu	37	4	66217258	66217258	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr4:66217258G>T	ENST00000273854.3	-	14	2957	c.2357C>A	c.(2356-2358)gCa>gAa	p.A786E	EPHA5_ENST00000354839.4_Missense_Mutation_p.A764E|EPHA5_ENST00000511294.1_Missense_Mutation_p.A787E|EPHA5_ENST00000432638.2_Missense_Mutation_p.A623E	NM_004439.5	NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	786	Protein kinase.				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity	p.A786E(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						CTTCATTCCTGCAGAGATACC	0.413000										TSP Lung(17;0.13)			79	77					1.0627e-70	1.96758e-70	1	1	0
IL12A-AS1	101928376	broad.mit.edu	37	3	159819567	159819567	+	RNA	SNP	G	G	A	rs11921898	by1000genomes	TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr3:159819567G>A	ENST00000497452.1	-	0	517																											GAGAGAGCAGGAGCATCTTGA	0.433000													3	45					0	0	1	0	0
MFSD8	256471	broad.mit.edu	37	4	128863281	128863281	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr4:128863281C>A	ENST00000296468.3	-	6	599	c.472G>T	c.(472-474)Ggt>Tgt	p.G158C	MFSD8_ENST00000513559.1_Missense_Mutation_p.G113C|MFSD8_ENST00000541133.1_Missense_Mutation_p.G113C|MFSD8_ENST00000515130.1_5'UTR	NM_152778.2	NP_689991.1	Q8NHS3	MFSD8_HUMAN	major facilitator superfamily domain containing 8	158					cell death|transmembrane transport	integral to membrane|lysosomal membrane		p.G158F(1)		cervix(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)	23						GAAGTAGCACCAGCAGTATAT	0.353000													54	96					1.53134e-21	2.14235e-21	1	1	0
CDH23	64072	broad.mit.edu	37	10	73550900	73550900	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr10:73550900G>T	ENST00000224721.6	+	46	6081	c.6076G>T	c.(6076-6078)Gtg>Ttg	p.V2026L		NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	2021	Cadherin 19.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding	p.V2026L(1)		NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						TGTGGTGACCGTGAGGTCAGG	0.622000													3	3					6.4e-05	6.86501e-05	1	1	0
MSANTD3	91283	broad.mit.edu	37	9	103204311	103204311	+	Missense_Mutation	SNP	G	G	C			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr9:103204311G>C	ENST00000395067.2	+	2	362	c.91G>C	c.(91-93)Gtg>Ctg	p.V31L	MSANTD3_ENST00000374885.1_Missense_Mutation_p.V31L	NM_001198805.1|NM_001198806.1|NM_080655.2	NP_001185734.1|NP_001185735.1|NP_542386.1			Myb/SANT-like DNA-binding domain containing 3									p.V31L(2)		endometrium(2)|lung(2)	4						GTATAAATATGTGCTGGAATG	0.448000													12	37					0	0	1	0	0
SHPK	23729	broad.mit.edu	37	17	3514090	3514090	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr17:3514090C>A	ENST00000225519.3	-	7	1303	c.1201G>T	c.(1201-1203)Gct>Tct	p.A401S		NM_013276.2	NP_037408.2	Q9UHJ6	SHPK_HUMAN	sedoheptulokinase	401					carbohydrate metabolic process	cytoplasm	ATP binding|sedoheptulokinase activity	p.A401S(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				COAD - Colon adenocarcinoma(5;0.0828)		CGGCACAGAGCCCGGGTCACG	0.647000													8	44					0.00829132	0.0085191	1	1	0
TRPM3	80036	broad.mit.edu	37	9	73235267	73235267	+	Silent	SNP	C	C	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr9:73235267C>T	ENST00000377110.2	-	15	2061	c.1818G>A	c.(1816-1818)ttG>ttA	p.L606L	TRPM3_ENST00000396280.5_Silent_p.L455L|TRPM3_ENST00000396285.1_Silent_p.L453L|TRPM3_ENST00000357533.2_Silent_p.L610L|TRPM3_ENST00000396292.4_Silent_p.L478L|TRPM3_ENST00000377105.1_Silent_p.L465L|TRPM3_ENST00000377111.2_Silent_p.L606L|TRPM3_ENST00000360823.2_Silent_p.L468L|TRPM3_ENST00000358082.3_Silent_p.L468L|TRPM3_ENST00000377106.1_Silent_p.L478L|TRPM3_ENST00000423814.3_Silent_p.L633L|TRPM3_ENST00000408909.2_Silent_p.L465L	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	631						integral to membrane	calcium channel activity	p.L610L(1)|p.L606L(1)|p.L478L(1)		NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						TTCCTCGCCTCAAGGGAATAT	0.438000													70	322					0	0	1	0	0
TMEM222	84065	broad.mit.edu	37	1	27658583	27658583	+	Missense_Mutation	SNP	A	A	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr1:27658583A>T	ENST00000374076.4	+	3	340	c.302A>T	c.(301-303)aAg>aTg	p.K101M		NM_032125.2	NP_115501.2	Q9H0R3	TM222_HUMAN	transmembrane protein 222	101				K -> E (in Ref. 5; BAD96362).		integral to membrane	protein binding	p.K101M(1)		biliary_tract(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	7						GCCTTTGGAAAGCCTGCCAAG	0.577000													82	72					0	0	1	0	0
UBN1	29855	broad.mit.edu	37	16	4924652	4924652	+	Silent	SNP	G	G	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr16:4924652G>A	ENST00000396658.4	+	14	2944	c.2241G>A	c.(2239-2241)ggG>ggA	p.G747G	UBN1_ENST00000590769.1_Silent_p.G747G|UBN1_ENST00000262376.6_Silent_p.G747G|UBN1_ENST00000545171.1_Silent_p.G747G	NM_016936.3	NP_058632.2	Q9NPG3	UBN1_HUMAN	ubinuclein 1	747					chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter	PML body|tight junction	DNA binding|sequence-specific DNA binding transcription factor activity	p.G747G(1)		NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						TGGCACTGGGGCAGTCCTCTC	0.527000													35	98					0	0	1	0	0
ANK2	287	broad.mit.edu	37	4	114158754	114158754	+	Splice_Site	SNP	G	G	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr4:114158754G>A	ENST00000357077.4	+	7	722		c.e7-1		ANK2_ENST00000264366.6_Splice_Site|ANK2_ENST00000394537.3_Splice_Site|ANK2_ENST00000506722.1_Splice_Site	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal						axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	p.?(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		CACTGCTTCAGATGATGGTGA	0.363000													40	63					0	0	1	0	0
CLEC16A	23274	broad.mit.edu	37	16	11219945	11219945	+	Silent	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr16:11219945G>T	ENST00000409790.1	+	22	2813	c.2583G>T	c.(2581-2583)cgG>cgT	p.R861R	CLEC16A_ENST00000409552.3_Silent_p.R843R|CLEC16A_ENST00000381822.2_5'UTR	NM_015226.2	NP_056041.1	Q2KHT3	CL16A_HUMAN	C-type lectin domain family 16, member A	861								p.R861R(1)|p.0?(1)		breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						AGGGGCGCCGGGGCAGCAGCG	0.657000													10	25					5.01169e-05	5.38613e-05	1	1	0
KIAA1377	57562	broad.mit.edu	37	11	101793446	101793446	+	Missense_Mutation	SNP	G	G	T	rs142032267		TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr11:101793446G>T	ENST00000263468.8	+	2	473	c.203G>T	c.(202-204)cGa>cTa	p.R68L		NM_020802.2	NP_065853.2	Q9P2H0	K1377_HUMAN	KIAA1377	68							protein binding	p.R68L(1)		breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		AAAATATGTCGAAATCGAGCA	0.303000													6	11					0.00116845	0.00121388	1	1	0
NUP188	23511	broad.mit.edu	37	9	131731775	131731775	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr9:131731775G>T	ENST00000372577.2	+	10	915	c.894G>T	c.(892-894)caG>caT	p.Q298H		NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	298					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding	p.Q298H(1)		breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						AGTTTGCGCAGGATGGGCTTA	0.423000													48	162					2.76378e-25	4.01679e-25	1	1	0
OTOP3	347741	broad.mit.edu	37	17	72938029	72938029	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr17:72938029G>T	ENST00000328801.4	+	3	524	c.524G>T	c.(523-525)tGc>tTc	p.C175F		NM_178233.1	NP_839947.1	Q7RTS5	OTOP3_HUMAN	otopetrin 3	175						integral to membrane|intracellular	zinc ion binding	p.C175F(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_lung(278;0.151)|Lung NSC(278;0.185)					TGCACCTTCTGCCTCAACATC	0.622000													24	14					8.88839e-20	1.21029e-19	1	1	0
CCKAR	886	broad.mit.edu	37	4	26487314	26487314	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr4:26487314G>T	ENST00000295589.3	-	3	765	c.571C>A	c.(571-573)Cag>Aag	p.Q191K		NM_000730.2	NP_000721.1	P32238	CCKAR_HUMAN	cholecystokinin A receptor	191					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration|response to nutrient	integral to plasma membrane	cholecystokinin receptor activity	p.Q191K(1)		NS(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|pancreas(1)|skin(1)	29		Breast(46;0.0503)			Ceruletide(DB00403)	TTCGCGGTCTGGTTGTTATTT	0.408000													42	132					9.22156e-22	1.29982e-21	1	1	0
SPHKAP	80309	broad.mit.edu	37	2	228884540	228884540	+	Missense_Mutation	SNP	C	C	G			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr2:228884540C>G	ENST00000392056.3	-	7	1076	c.1030G>C	c.(1030-1032)Gct>Cct	p.A344P	SPHKAP_ENST00000344657.5_Missense_Mutation_p.A344P	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	344						cytoplasm	protein binding	p.A344P(2)		NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		GAGAAATAAGCATCTTTTGGA	0.423000													30	105					0	0	1	0	0
INTS6-AS1	100507398	broad.mit.edu	37	13	52034613	52034613	+	RNA	SNP	A	A	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr13:52034613A>T	ENST00000594959.1	+	0	411				INTS6-AS1_ENST00000595997.1_RNA|INTS6-AS1_ENST00000598864.1_RNA|INTS6-AS1_ENST00000597745.1_RNA|RPS4XP16_ENST00000595905.1_RNA|INTS6-AS1_ENST00000593709.1_RNA|INTS6-AS1_ENST00000593928.1_RNA|INTS6-AS1_ENST00000596180.1_RNA|INTS6-AS1_ENST00000596303.1_RNA|INTS6-AS1_ENST00000594488.1_RNA|INTS6-AS1_ENST00000434512.1_RNA|INTS6-AS1_ENST00000602089.1_RNA|INTS6-AS1_ENST00000599315.1_RNA|INTS6-AS1_ENST00000593672.1_RNA|INTS6-AS1_ENST00000601572.1_RNA|INTS6-AS1_ENST00000594358.1_RNA|INTS6-AS1_ENST00000596050.1_RNA|INTS6-AS1_ENST00000601034.1_RNA|INTS6-AS1_ENST00000601318.1_RNA|INTS6-AS1_ENST00000594604.1_RNA|INTS6-AS1_ENST00000595424.1_RNA|INTS6-AS1_ENST00000600477.1_RNA|INTS6-AS1_ENST00000593429.1_RNA|INTS6-AS1_ENST00000595435.1_RNA																							ttccaccatcattggaagctt	0.507000													2	2					0	0	1	0	0
MRGPRX1	259249	broad.mit.edu	37	11	18956125	18956125	+	Silent	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr11:18956125G>T	ENST00000302797.3	-	1	431	c.207C>A	c.(205-207)gcC>gcA	p.A69A	MRGPRX1_ENST00000526914.1_5'UTR	NM_147199.3	NP_671732.3	Q96LB2	MRGX1_HUMAN	MAS-related GPR, member X1	69					acute-phase response	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.A69A(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						AGTCTGCTGCGGCCAAGTTGA	0.532000													71	300					6.03386e-27	8.8845e-27	1	1	0
C14orf177	283598	broad.mit.edu	37	14	99182700	99182700	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr14:99182700C>A	ENST00000325812.2	+	3	591	c.172C>A	c.(172-174)Ctg>Atg	p.L58M		NM_182560.2	NP_872366.2	Q52M58	CN177_HUMAN	chromosome 14 open reading frame 177	58								p.L58M(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(10)	13		Melanoma(154;0.128)				GCAGCATGCCCTGACGCTCAC	0.473000													18	93					7.45023e-12	9.0467e-12	1	1	0
OR6N1	128372	broad.mit.edu	37	1	158736093	158736093	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr1:158736093C>T	ENST00000335094.2	-	1	399	c.380G>A	c.(379-381)tGc>tAc	p.C127Y		NM_001005185.1	NP_001005185.1	Q8NGY5	OR6N1_HUMAN	olfactory receptor, family 6, subfamily N, member 1	127					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.C127Y(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_hematologic(112;0.0378)					GAGGGGCCGGCAGATGGCTAA	0.522000													47	46					0	0	1	0	0
PCDHGA4	56111	broad.mit.edu	37	5	140736507	140736507	+	Silent	SNP	C	C	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr5:140736507C>T	ENST00000571252.1	+	1	1740	c.1740C>T	c.(1738-1740)cgC>cgT	p.R580R	PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_018917.2	NP_061740.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGCACCCCGCTCCGCAGATT	0.587000													30	103					0	0	1	0	0
TRPM4	54795	broad.mit.edu	37	19	49691969	49691969	+	Silent	SNP	C	C	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr19:49691969C>T	ENST00000252826.5	+	13	1941	c.1815C>T	c.(1813-1815)gaC>gaT	p.D605D	TRPM4_ENST00000355712.5_Silent_p.D251D|TRPM4_ENST00000427978.2_Silent_p.D605D	NM_017636.3	NP_060106.2	Q8TD43	TRPM4_HUMAN	transient receptor potential cation channel, subfamily M, member 4	605					dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production	endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	ATP binding|calcium activated cation channel activity|calmodulin binding	p.D605D(1)		breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)		TGGAGCCTGACGCTGAGGAGG	0.642000													14	38					0	0	1	0	0
ZADH2	284273	broad.mit.edu	37	18	72920923	72920923	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr18:72920923G>T	ENST00000322342.3	-	1	380	c.91C>A	c.(91-93)Caa>Aaa	p.Q31K		NM_175907.4	NP_787103.1	Q8N4Q0	ZADH2_HUMAN	zinc binding alcohol dehydrogenase domain containing 2	31						peroxisome	oxidoreductase activity|zinc ion binding	p.Q31K(1)		endometrium(3)|large_intestine(3)|lung(8)|skin(1)	15		Esophageal squamous(42;0.131)|Prostate(75;0.155)		READ - Rectum adenocarcinoma(2;0.0276)|BRCA - Breast invasive adenocarcinoma(31;0.216)		TGCATGGCTTGGGGAATGGCG	0.716000													3	5					0.00024832	0.000260876	1	1	0
OR5F1	338674	broad.mit.edu	37	11	55761338	55761338	+	Missense_Mutation	SNP	C	C	G	rs58625186	byFrequency	TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr11:55761338C>G	ENST00000278409.1	-	1	763	c.764G>C	c.(763-765)tGc>tCc	p.C255S		NM_003697.1	NP_003688.1	O95221	OR5F1_HUMAN	olfactory receptor, family 5, subfamily F, member 1	255					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.C255S(1)		endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58	Esophageal squamous(21;0.00448)					AGTATAGATGCAGGTGGCATA	0.488000													85	127					0	0	1	0	0
TMEM214	54867	broad.mit.edu	37	2	27262916	27262916	+	Silent	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr2:27262916G>T	ENST00000238788.9	+	15	1703	c.1641G>T	c.(1639-1641)ctG>ctT	p.L547L	TMEM214_ENST00000404032.3_Silent_p.L502L	NM_017727.4	NP_060197.4	Q6NUQ4	TM214_HUMAN	transmembrane protein 214	547						integral to membrane	protein binding	p.L547L(1)		kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						GGGAGACACTGCCGCTCTGGG	0.627000													6	13					5.50884e-06	6.01256e-06	1	1	0
GLRX2	51022	broad.mit.edu	37	1	193066850	193066850	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr1:193066850G>T	ENST00000367440.3	-	3	702	c.227C>A	c.(226-228)aCa>aAa	p.T76K	GLRX2_ENST00000472197.1_5'UTR|GLRX2_ENST00000367439.3_Missense_Mutation_p.T75K	NM_001243399.1|NM_016066.4	NP_001230328.1|NP_057150.2	Q9NS18	GLRX2_HUMAN	glutaredoxin 2	75	Glutaredoxin.				apoptosis|cell differentiation|cell redox homeostasis|DNA protection|electron transport chain|glutathione metabolic process|protein thiol-disulfide exchange|regulation of signal transduction|regulation of transcription, DNA-dependent|response to hydrogen peroxide|response to organic substance|response to redox state|response to temperature stimulus|transport	mitochondrion|nucleus	2 iron, 2 sulfur cluster binding|arsenate reductase (glutaredoxin) activity|electron carrier activity|glutathione disulfide oxidoreductase activity|metal ion binding|protein disulfide oxidoreductase activity	p.T76K(1)		breast(1)|large_intestine(1)|lung(3)	5					Glutathione(DB00143)	AGAACAGGATGTTTTTGAGAA	0.313000													5	16					6.5536e-12	7.99254e-12	1	1	0
TCP11L1	55346	broad.mit.edu	37	11	33076262	33076262	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr11:33076262C>T	ENST00000334274.4	+	3	687	c.287C>T	c.(286-288)cCa>cTa	p.P96L	TCP11L1_ENST00000432887.1_Missense_Mutation_p.P96L|TCP11L1_ENST00000530171.1_Intron|TCP11L1_ENST00000531632.2_Missense_Mutation_p.P96L	NM_018393.3	NP_060863.3	Q9NUJ3	T11L1_HUMAN	t-complex 11, testis-specific-like 1	96								p.P96L(1)		kidney(1)|liver(2)|lung(2)|skin(1)	6						GTTGAATTACCAGAAAACAGG	0.373000													20	114					0	0	1	0	0
ZNF487	642819	broad.mit.edu	37	10	43971248	43971248	+	Missense_Mutation	SNP	C	C	G	rs11816311	by1000genomes	TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr10:43971248C>G	ENST00000431662.1	+	2	182	c.182C>G	c.(181-183)cCg>cGg	p.P61R	ZNF487_ENST00000437590.2_5'UTR																							CAGAGGACCCCGTACAGAGAC	0.468000													3	44					0	0	1	0	0
FER1L6	654463	broad.mit.edu	37	8	125015557	125015557	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr8:125015557C>A	ENST00000522917.1	+	13	1876	c.1670C>A	c.(1669-1671)cCg>cAg	p.P557Q	FER1L6-AS1_ENST00000518567.1_RNA|FER1L6_ENST00000399018.1_Missense_Mutation_p.P557Q	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	557						integral to membrane		p.P557Q(1)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			ACCACTCACCCGGAGAAGCCA	0.522000													50	87					3.69863e-55	6.65043e-55	1	1	0
CLPTM1	1209	broad.mit.edu	37	19	45495879	45495879	+	Silent	SNP	C	C	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr19:45495879C>T	ENST00000541297.2	+	14	2157	c.1692C>T	c.(1690-1692)ttC>ttT	p.F564F	CLPTM1_ENST00000546079.1_Silent_p.F476F|CLPTM1_ENST00000337392.5_Silent_p.F578F			O96005	CLPT1_HUMAN	cleft lip and palate associated transmembrane protein 1	578					cell differentiation|multicellular organismal development|regulation of T cell differentiation in thymus	external side of plasma membrane|integral to plasma membrane		p.F578F(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00354)|Epithelial(262;0.187)		ATGTGGTTTTCTTCATCTACC	0.647000													11	36					0	0	1	0	0
NHS	4810	broad.mit.edu	37	X	17746185	17746185	+	Missense_Mutation	SNP	T	T	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chrX:17746185T>A	ENST00000380060.3	+	6	4234	c.3896T>A	c.(3895-3897)gTg>gAg	p.V1299E	NHS_ENST00000398097.3_Missense_Mutation_p.V1143E	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	1299						nucleus		p.V1299E(1)|p.V1143E(1)		breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					CCTGAATCTGTGGATGTAATC	0.438000													67	89					0	0	1	0	0
ROBO4	54538	broad.mit.edu	37	11	124754802	124754802	+	Silent	SNP	A	A	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr11:124754802A>T	ENST00000306534.3	-	18	3494	c.3009T>A	c.(3007-3009)ccT>ccA	p.P1003P	ROBO4_ENST00000533054.1_Silent_p.P858P|RP11-664I21.5_ENST00000524453.1_RNA	NM_019055.5	NP_061928.4	Q8WZ75	ROBO4_HUMAN	roundabout, axon guidance receptor, homolog 4 (Drosophila)	1003					angiogenesis|cell differentiation	integral to membrane	receptor activity	p.P1003P(1)		NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		AGTAATCTACAGGAGAAGCTG	0.557000													18	58					0	0	1	0	0
LRRK1	79705	broad.mit.edu	37	15	101597252	101597252	+	Silent	SNP	G	G	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr15:101597252G>A	ENST00000284395.5	+	29	4915	c.4515G>A	c.(4513-4515)gaG>gaA	p.E1505E	LRRK1_ENST00000388948.3_Silent_p.E1508E|RP11-505E24.2_ENST00000559857.1_RNA			Q38SD2	LRRK1_HUMAN	leucine-rich repeat kinase 1	1508	Protein kinase.				small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.E1520E(1)|p.E1508E(1)		breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CTAAGCCAGAGAAGGTACTTG	0.647000													10	20					0	0	1	0	0
FRMPD2	143162	broad.mit.edu	37	10	49393636	49393636	+	Silent	SNP	A	A	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr10:49393636A>T	ENST00000374201.3	-	18	2621	c.2319T>A	c.(2317-2319)atT>atA	p.I773I	FRMPD2_ENST00000407470.4_Silent_p.I741I|FRMPD2_ENST00000305531.3_Silent_p.I748I	NM_001018071.3	NP_001018081.3	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2	773					tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding	p.I773I(1)		NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		TCACACGTACAATTTCTCGGC	0.498000													40	70					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152285860	152285860	+	Missense_Mutation	SNP	C	C	T	rs145828067		TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr1:152285860C>T	ENST00000368799.1	-	3	1537	c.1502G>A	c.(1501-1503)cGa>cAa	p.R501Q	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	501	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.R501Q(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGAGCTGTCTCGTGCCTGCTC	0.612000									Ichthyosis				10	300					0	0	1	0	0
SPDL1	54908	broad.mit.edu	37	5	169023609	169023609	+	Silent	SNP	A	A	G			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr5:169023609A>G	ENST00000265295.4	+	8	1215	c.936A>G	c.(934-936)gaA>gaG	p.E312E		NM_017785.4	NP_060255.3			spindle apparatus coiled-coil protein 1									p.E312E(1)									CTCAAACTGAATTTGAGCAGC	0.348000													26	89					0	0	1	0	0
PRKG2	5593	broad.mit.edu	37	4	82126159	82126159	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr4:82126159C>A	ENST00000395578.1	-	2	159	c.43G>T	c.(43-45)Gat>Tat	p.D15Y	PRKG2_ENST00000418486.2_Missense_Mutation_p.D15Y|PRKG2_ENST00000264399.1_Missense_Mutation_p.D15Y			Q13237	KGP2_HUMAN	protein kinase, cGMP-dependent, type II	15					platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity	p.D15Y(2)		NS(1)|breast(4)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	37						GAGTGTCCATCTGGGTGCTTA	0.502000													3	38					0.00909568	0.00927759	1	1	0
EPHA5	2044	broad.mit.edu	37	4	66356125	66356125	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr4:66356125C>A	ENST00000273854.3	-	5	1972	c.1372G>T	c.(1372-1374)Gtg>Ttg	p.V458L	EPHA5_ENST00000354839.4_Missense_Mutation_p.V458L|EPHA5_ENST00000511294.1_Missense_Mutation_p.V458L|EPHA5_ENST00000432638.2_Intron	NM_004439.5	NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	458	Fibronectin type-III 1.				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity	p.V458L(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						TTTACAGACACATACTGCCGG	0.478000										TSP Lung(17;0.13)			9	114					0.010729	0.0109238	1	1	0
QSOX2	169714	broad.mit.edu	37	9	139115958	139115958	+	Splice_Site	SNP	C	C	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr9:139115958C>T	ENST00000358701.5	-	4	516	c.478_splice	c.e4-1	p.G160_splice		NM_181701.3	NP_859052.3	Q6ZRP7	QSOX2_HUMAN	quiescin Q6 sulfhydryl oxidase 2	160	Thioredoxin.				cell redox homeostasis	extracellular region|integral to membrane|nuclear membrane|plasma membrane	thiol oxidase activity	p.G160E(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)	22		Myeloproliferative disorder(178;0.0511)		Epithelial(140;7.78e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.55e-07)		TCGGTCAGGTCCTGCCGGAAG	0.657000													11	21					0	0	1	0	0
LRFN2	57497	broad.mit.edu	37	6	40399650	40399650	+	Silent	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr6:40399650G>T	ENST00000338305.6	-	2	1745	c.1203C>A	c.(1201-1203)ggC>ggA	p.G401G		NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III domain containing 2	401						cell junction|integral to membrane|postsynaptic membrane		p.G401G(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					TCTTGCTGGAGCCAGTGATGT	0.657000													7	5					9.31168e-06	1.01434e-05	1	1	0
TRPM3	80036	broad.mit.edu	37	9	73235278	73235278	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr9:73235278C>T	ENST00000377110.2	-	15	2050	c.1807G>A	c.(1807-1809)Gat>Aat	p.D603N	TRPM3_ENST00000396280.5_Missense_Mutation_p.D452N|TRPM3_ENST00000396285.1_Missense_Mutation_p.D450N|TRPM3_ENST00000357533.2_Missense_Mutation_p.D607N|TRPM3_ENST00000396292.4_Missense_Mutation_p.D475N|TRPM3_ENST00000377105.1_Missense_Mutation_p.D462N|TRPM3_ENST00000377111.2_Missense_Mutation_p.D603N|TRPM3_ENST00000360823.2_Missense_Mutation_p.D465N|TRPM3_ENST00000358082.3_Missense_Mutation_p.D465N|TRPM3_ENST00000377106.1_Missense_Mutation_p.D475N|TRPM3_ENST00000423814.3_Missense_Mutation_p.D630N|TRPM3_ENST00000408909.2_Missense_Mutation_p.D462N	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	628						integral to membrane	calcium channel activity	p.D607N(1)|p.D603N(1)|p.D475N(1)		NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						AAGGGAATATCATCCTGTAAT	0.438000													59	316					0	0	1	0	0
ALK	238	broad.mit.edu	37	2	30143102	30143102	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr2:30143102C>A	ENST00000389048.3	-	1	1330	c.424G>T	c.(424-426)Gtg>Ttg	p.V142L	ALK_ENST00000431873.1_Missense_Mutation_p.V142L	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	142					protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	p.V142L(1)	ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	AGCTCCAGCACCAACTGCTTG	0.701000			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				3	3					0.115264	0.115676	1	1	0
MIR517C	574492	broad.mit.edu	37	19	54244639	54244639	+	RNA	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr19:54244639G>T	ENST00000385103.1	+	0	73					NR_030214.1																						CATCCTTTTAGAGTGTTACTG	0.428000													41	123					3.7052e-28	5.51358e-28	1	1	0
OLAH	55301	broad.mit.edu	37	10	15106469	15106469	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr10:15106469C>A	ENST00000378217.3	+	6	716	c.529C>A	c.(529-531)Cat>Aat	p.H177N	OLAH_ENST00000378228.3_Missense_Mutation_p.H124N	NM_018324.2	NP_060794.1	Q9NV23	SAST_HUMAN	oleoyl-ACP hydrolase	124					fatty acid biosynthetic process		myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity	p.H177N(1)		endometrium(2)|large_intestine(1)|lung(14)|stomach(1)	18						AGAACCATTGCATTTATTTTT	0.373000													24	79					1.13719e-10	1.35162e-10	1	1	0
METTL18	92342	broad.mit.edu	37	1	169762027	169762027	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr1:169762027C>A	ENST00000310392.4	-	2	1163	c.810G>T	c.(808-810)tgG>tgT	p.W270C	C1orf112_ENST00000498289.1_Intron|METTL18_ENST00000303469.2_Missense_Mutation_p.W270C	NM_033418.2	NP_219486.1	O95568	MET18_HUMAN	methyltransferase like 18	270						cytoplasm	protein methyltransferase activity	p.W270C(1)		kidney(1)|large_intestine(3)|lung(4)	8						AAAACTCAGACCACTCACCAG	0.328000													41	45					8.69298e-16	1.10835e-15	1	1	0
GNE	10020	broad.mit.edu	37	9	36246104	36246104	+	Silent	SNP	C	C	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr9:36246104C>T	ENST00000396594.3	-	3	744	c.633G>A	c.(631-633)ttG>ttA	p.L211L	GNE_ENST00000539815.1_Silent_p.L180L|GNE_ENST00000447283.2_Silent_p.L180L|GNE_ENST00000377902.5_Silent_p.L180L|GNE_ENST00000543356.2_Silent_p.L175L|GNE_ENST00000539208.1_Silent_p.L121L	NM_001128227.2	NP_001121699.1	Q9Y223	GLCNE_HUMAN	glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase	180					cell adhesion|lipopolysaccharide biosynthetic process|N-acetylneuraminate metabolic process|UDP-N-acetylglucosamine metabolic process		ATP binding|N-acylmannosamine kinase activity|UDP-N-acetylglucosamine 2-epimerase activity	p.L180L(1)|p.L211L(1)|p.L175L(1)		endometrium(8)|kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			STAD - Stomach adenocarcinoma(86;0.228)			GGCAGCCTGCCAAAAGGATGC	0.483000													5	136					0	0	1	0	0
ZXDB	158586	broad.mit.edu	37	X	57620678	57620678	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chrX:57620678G>T	ENST00000374888.1	+	1	2410	c.2197G>T	c.(2197-2199)Gac>Tac	p.D733Y		NM_007157.3	NP_009088.1	P98169	ZXDB_HUMAN	zinc finger, X-linked, duplicated B	733					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	p.D733Y(1)		NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(2)|skin(6)	27						GCTAACAGTGGACACAGATGC	0.502000													22	17					7.38237e-10	8.66424e-10	1	1	0
ETAA1	54465	broad.mit.edu	37	2	67630052	67630052	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr2:67630052C>T	ENST00000272342.5	+	4	618	c.488C>T	c.(487-489)cCt>cTt	p.P163L	ETAA1_ENST00000462772.1_3'UTR	NM_019002.3	NP_061875.2	Q9NY74	ETAA1_HUMAN	Ewing tumor-associated antigen 1	163						cytoplasm|nucleus		p.P163L(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	33						ACTGCTATTCCTTGTACTCCC	0.368000													40	69					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82585203	82585203	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr7:82585203G>T	ENST00000423517.2	-	5	5403	c.5066C>A	c.(5065-5067)aCa>aAa	p.T1689K	PCLO_ENST00000333891.8_Missense_Mutation_p.T1689K	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	1620					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	p.T1689K(2)|p.T1689fs*6(1)|p.T1620fs*6(1)|p.T1620K(1)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						ATACAAACTTGTTTTTTTCTG	0.428000													15	22					2.5808e-16	3.3207e-16	1	1	0
DISP1	84976	broad.mit.edu	37	1	223177391	223177391	+	Silent	SNP	G	G	A	rs138904556	by1000genomes	TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr1:223177391G>A	ENST00000284476.6	+	8	2816	c.2652G>A	c.(2650-2652)gaG>gaA	p.E884E		NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	884					diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity	p.E884E(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		ACAAGCAAGAGATTTTTGAAC	0.488000													13	51					0	0	1	0	0
SLC8A1	6546	broad.mit.edu	37	2	40656621	40656621	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr2:40656621C>A	ENST00000406785.1	-	2	989	c.800G>T	c.(799-801)cGa>cTa	p.R267L	SLC8A1_ENST00000406391.2_Missense_Mutation_p.R267L|SLC8A1_ENST00000405901.3_Missense_Mutation_p.R267L|SLC8A1_ENST00000405269.1_Missense_Mutation_p.R267L|SLC8A1_ENST00000403092.1_Missense_Mutation_p.R267L|SLC8A1_ENST00000402441.1_Missense_Mutation_p.R267L|SLC8A1_ENST00000332839.4_Missense_Mutation_p.R267L|SLC8A1_ENST00000542756.1_Missense_Mutation_p.R267L|SLC8A1_ENST00000542024.1_Missense_Mutation_p.R267L|SLC8A1_ENST00000408028.2_Missense_Mutation_p.R267L			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	267	Calmodulin-binding (Potential).				cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding	p.R267L(2)		NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	CTTGCCAGCTCGATACCTCTT	0.433000													76	181					8.92586e-32	1.37945e-31	1	1	0
CLNK	116449	broad.mit.edu	37	4	10566369	10566369	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr4:10566369G>T	ENST00000226951.6	-	7	564	c.325C>A	c.(325-327)Ccc>Acc	p.P109T	CLNK_ENST00000507719.1_Missense_Mutation_p.P67T|CLNK_ENST00000442825.2_Missense_Mutation_p.P67T	NM_052964.2	NP_443196.2	Q7Z7G1	CLNK_HUMAN	cytokine-dependent hematopoietic cell linker	109					immune response|intracellular signal transduction	intracellular	SH3/SH2 adaptor activity	p.P109T(2)		NS(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(1)	17						AACGGAAGGGGAGTGTCCATT	0.428000													27	116					3.69857e-22	5.2529e-22	1	1	0
SECTM1	6398	broad.mit.edu	37	17	80280050	80280050	+	Missense_Mutation	SNP	G	G	C			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr17:80280050G>C	ENST00000269389.3	-	5	1084	c.734C>G	c.(733-735)gCc>gGc	p.A245G	SECTM1_ENST00000580437.1_3'UTR	NM_003004.2	NP_002995.1	Q8WVN6	SCTM1_HUMAN	secreted and transmembrane 1	245					immune response|mesoderm development|positive regulation of I-kappaB kinase/NF-kappaB cascade	extracellular space|Golgi apparatus|integral to membrane|plasma membrane	cytokine activity|signal transducer activity	p.A245G(1)		endometrium(1)|large_intestine(2)|lung(1)	4	Breast(20;0.000675)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.249)		OV - Ovarian serous cystadenocarcinoma(97;0.00928)|BRCA - Breast invasive adenocarcinoma(99;0.0833)			TGGGTCTGCGGCATATGGAAA	0.657000													6	2					0	0	1	0	0
ARMC3	219681	broad.mit.edu	37	10	23257283	23257283	+	Translation_Start_Site	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr10:23257283C>A	ENST00000376528.4	+	0	323				ARMC3_ENST00000298032.5_Missense_Mutation_p.L261I|ARMC3_ENST00000409983.3_Missense_Mutation_p.L261I|ARMC3_ENST00000409049.3_Missense_Mutation_p.L261I			Q5W041	ARMC3_HUMAN	armadillo repeat containing 3								binding	p.L261I(1)		breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						AGCCAATTGCCTTGAAGACAT	0.358000													109	225					4.30233e-46	7.38107e-46	1	1	0
LRFN2	57497	broad.mit.edu	37	6	40360626	40360626	+	Missense_Mutation	SNP	A	A	C			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr6:40360626A>C	ENST00000338305.6	-	3	1968	c.1426T>G	c.(1426-1428)Ttc>Gtc	p.F476V		NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III domain containing 2	476	Fibronectin type-III.					cell junction|integral to membrane|postsynaptic membrane		p.F476V(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					TTGACCACGAAGGCCTTGTTG	0.597000													16	24					0	0	1	0	0
CT47B1	643311	broad.mit.edu	37	X	120008777	120008777	+	Missense_Mutation	SNP	T	T	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chrX:120008777T>A	ENST00000371311.3	-	1	1002	c.748A>T	c.(748-750)Acc>Tcc	p.T250S		NM_001145718.1	NP_001139190.1	P0C2W7	CT47B_HUMAN	cancer/testis antigen family 47, member B1	250								p.T250S(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|lung(9)|ovary(1)|skin(1)	22						TCCTCTGAGGTCGGTTCCTCT	0.697000													17	8					0	0	1	0	0
LOC440040	440040	broad.mit.edu	37	11	49830150	49830150	+	RNA	SNP	C	C	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr11:49830150C>T	ENST00000527477.1	+	0	1481																											GTGCAGGGCCCATCACTGGAC	0.483000													10	16					0	0	1	0	0
DIP2A	23181	broad.mit.edu	37	21	47978160	47978160	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr21:47978160G>T	ENST00000318711.7	+	32	4009	c.3826G>T	c.(3826-3828)Gtg>Ttg	p.V1276L	DIP2A_ENST00000400274.1_Missense_Mutation_p.V1271L|DIP2A_ENST00000417564.2_Missense_Mutation_p.V1275L	NM_001146116.1|NM_015151.3	NP_001139588.1|NP_055966.2	Q14689	DIP2A_HUMAN	DIP2 disco-interacting protein 2 homolog A (Drosophila)	1275					multicellular organismal development	nucleus	catalytic activity|transcription factor binding	p.V1275L(1)|p.V1276L(1)		cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		CCTGTCATGTGTGCGCACGTG	0.657000													6	12					8.12818e-05	8.65258e-05	1	1	0
PIK3C2B	5287	broad.mit.edu	37	1	204394057	204394057	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr1:204394057G>A	ENST00000367187.3	-	34	5384	c.4828C>T	c.(4828-4830)Cgc>Tgc	p.R1610C	PIK3C2B_ENST00000424712.2_Missense_Mutation_p.R1582C|RP11-739N20.2_ENST00000443515.1_RNA	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	1610					cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding	p.R1610C(1)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			TCTCGCAGGCGGATGTTCACC	0.637000													30	33					0	0	1	0	0
TENM2	57451	broad.mit.edu	37	5	167645863	167645863	+	Missense_Mutation	SNP	T	T	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr5:167645863T>A	ENST00000519204.1	+	22	4722	c.4604T>A	c.(4603-4605)aTc>aAc	p.I1535N	TENM2_ENST00000520394.1_Missense_Mutation_p.I1417N|TENM2_ENST00000545108.1_Missense_Mutation_p.I1655N|TENM2_ENST00000518659.1_Missense_Mutation_p.I1656N|TENM2_ENST00000403607.2_Missense_Mutation_p.I1480N					teneurin transmembrane protein 2									p.I1489N(1)|p.I1535N(1)|p.I1656N(1)									GACAACCAGATCATCACCCTC	0.532000													153	496					0	0	1	0	0
ZNF519	162655	broad.mit.edu	37	18	14105896	14105896	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr18:14105896C>A	ENST00000590202.1	-	3	795	c.643G>T	c.(643-645)Ggt>Tgt	p.G215C	ZNF519_ENST00000589498.1_Intron|ZNF519_ENST00000589203.1_Intron	NM_145287.3	NP_660330.2	Q8TB69	ZN519_HUMAN	zinc finger protein 519	215					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G215C(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1)	18						GAAGTTTCACCACATTCATTA	0.299000													38	86					3.37043e-27	4.97582e-27	1	1	0
NR1H4	9971	broad.mit.edu	37	12	100926373	100926373	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr12:100926373G>A	ENST00000548884.1	+	5	1124	c.583G>A	c.(583-585)Gaa>Aaa	p.E195K	NR1H4_ENST00000188403.7_Missense_Mutation_p.E205K|NR1H4_ENST00000549996.1_Intron|NR1H4_ENST00000392986.3_Missense_Mutation_p.E195K|NR1H4_ENST00000551379.1_Missense_Mutation_p.E205K	NM_001206977.1|NM_001206979.1|NM_005123.3	NP_001193906.1|NP_001193908.1|NP_005114.1	Q96RI1	NR1H4_HUMAN	nuclear receptor subfamily 1, group H, member 4	205					bile acid metabolic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding	p.E195K(1)|p.E205K(1)		NS(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	44						AATGTTGGCTGAATGTATGTA	0.408000													7	259					0	0	1	0	0
ZNF610	162963	broad.mit.edu	37	19	52869019	52869019	+	Nonsense_Mutation	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr19:52869019G>T	ENST00000601151.1	+	5	711	c.259G>T	c.(259-261)Gag>Tag	p.E87*	ZNF610_ENST00000403906.3_Nonsense_Mutation_p.E130*|ZNF610_ENST00000327920.8_Nonsense_Mutation_p.E130*|ZNF610_ENST00000321287.8_Nonsense_Mutation_p.E130*	NM_001161427.1	NP_001154899.1	Q8N9Z0	ZN610_HUMAN	zinc finger protein 610	130	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E130*(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(8)|liver(2)|lung(9)|ovary(2)|stomach(2)|upper_aerodigestive_tract(2)	34				OV - Ovarian serous cystadenocarcinoma(262;0.00396)|GBM - Glioblastoma multiforme(134;0.00434)		ATTAACCCTTGAGGCACATCT	0.398000													77	134					3.11363e-52	5.45858e-52	1	1	0
LCE2C	353140	broad.mit.edu	37	1	152648744	152648744	+	Silent	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr1:152648744C>A	ENST00000368783.1	+	2	308	c.253C>A	c.(253-255)Cgg>Agg	p.R85R	LCE2B_ENST00000417924.2_Intron	NM_178429.2	NP_848516.1	Q5TA81	LCE2C_HUMAN	late cornified envelope 2C	85	Cys-rich.				keratinization			p.R85W(2)|p.R85R(1)		endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)	13	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCACCGGCGCCGGCACCAGAG	0.682000													11	12					4.96729e-08	5.66392e-08	1	1	0
CPXCR1	53336	broad.mit.edu	37	X	88009116	88009116	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chrX:88009116G>T	ENST00000276127.4	+	3	960	c.701G>T	c.(700-702)aGg>aTg	p.R234M	CPXCR1_ENST00000373111.1_Missense_Mutation_p.R234M	NM_033048.5	NP_149037.4	Q8N123	CPXCR_HUMAN	CPX chromosome region, candidate 1	234						intracellular	zinc ion binding	p.R234I(1)		NS(1)|cervix(1)|kidney(1)|large_intestine(11)|liver(1)|lung(20)|ovary(3)|upper_aerodigestive_tract(2)	40						GCTATTGTGAGGTCTGTGCTC	0.363000													22	28					1.38267e-23	1.97877e-23	1	1	0
FTSJ1	24140	broad.mit.edu	37	X	48340805	48340805	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chrX:48340805C>A	ENST00000019019.2	+	11	1093	c.664C>A	c.(664-666)Cag>Aag	p.Q222K	FTSJ1_ENST00000396894.4_Missense_Mutation_p.Q87K|FTSJ1_ENST00000348411.2_Missense_Mutation_p.Q224K|FTSJ1_ENST00000496365.1_3'UTR|FTSJ1_ENST00000456787.1_Missense_Mutation_p.Q222K	NM_177439.1	NP_803188.1	Q9UET6	RRMJ1_HUMAN	FtsJ RNA methyltransferase homolog 1 (E. coli)	224					RNA methylation|rRNA processing		methyltransferase activity|nucleic acid binding	p.Q224K(1)		breast(1)|central_nervous_system(1)|lung(4)|skin(1)	7						AGATTTCAACCAGCTGGATGG	0.582000													6	45					8.12818e-05	8.65258e-05	1	1	0
MEOX2	4223	broad.mit.edu	37	7	15652213	15652213	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr7:15652213C>A	ENST00000262041.5	-	3	1123	c.714G>T	c.(712-714)agG>agT	p.R238S		NM_005924.4	NP_005915.2	P50222	MEOX2_HUMAN	mesenchyme homeobox 2	238					blood circulation|multicellular organismal development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.R238S(1)		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)		ACTTCATCCGCCTGTTTTGGA	0.438000													19	93					7.45023e-12	9.0467e-12	1	1	0
TMEM132D	121256	broad.mit.edu	37	12	130185209	130185209	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr12:130185209C>A	ENST00000422113.2	-	2	440	c.114G>T	c.(112-114)caG>caT	p.Q38H		NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	38						integral to membrane		p.Q38H(1)		NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		AGGAAAACCTCTGGATGCTCT	0.542000													36	26					3.4597e-24	5.0023e-24	1	1	0
MAGEE2	139599	broad.mit.edu	37	X	75003586	75003586	+	Missense_Mutation	SNP	A	A	G			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chrX:75003586A>G	ENST00000373359.2	-	1	1493	c.1301T>C	c.(1300-1302)gTa>gCa	p.V434A		NM_138703.4	NP_619648.1	Q8TD90	MAGE2_HUMAN	melanoma antigen family E, 2	434	MAGE 2.							p.V434A(1)		autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CTTTCTCCCTACATCCACACT	0.453000													11	231					0	0	1	0	0
ADCY8	114	broad.mit.edu	37	8	131795974	131795974	+	Silent	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr8:131795974G>T	ENST00000286355.5	-	17	5323	c.3231C>A	c.(3229-3231)atC>atA	p.I1077I	ADCY8_ENST00000377928.3_Silent_p.I946I	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	1077					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding	p.I1077I(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			AATGCTTGTTGATCTCCTGTA	0.502000										HNSCC(32;0.087)			90	168					5.30932e-60	9.63925e-60	1	1	0
CPXCR1	53336	broad.mit.edu	37	X	88009117	88009117	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chrX:88009117G>T	ENST00000276127.4	+	3	961	c.702G>T	c.(700-702)agG>agT	p.R234S	CPXCR1_ENST00000373111.1_Missense_Mutation_p.R234S	NM_033048.5	NP_149037.4	Q8N123	CPXCR_HUMAN	CPX chromosome region, candidate 1	234						intracellular	zinc ion binding	p.R234I(1)		NS(1)|cervix(1)|kidney(1)|large_intestine(11)|liver(1)|lung(20)|ovary(3)|upper_aerodigestive_tract(2)	40						CTATTGTGAGGTCTGTGCTCT	0.363000													22	27					1.38267e-23	1.97877e-23	1	1	0
MAGI2	9863	broad.mit.edu	37	7	78131003	78131003	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr7:78131003G>T	ENST00000354212.4	-	5	1109	c.856C>A	c.(856-858)Cag>Aag	p.Q286K	MAGI2_ENST00000535697.1_Missense_Mutation_p.Q123K|MAGI2_ENST00000536571.1_Missense_Mutation_p.Q118K|MAGI2_ENST00000522391.1_Missense_Mutation_p.Q286K|MAGI2_ENST00000419488.1_Missense_Mutation_p.Q286K	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	286						cell junction|synapse|synaptosome	phosphatase binding	p.Q286K(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				TCATCCATCTGCTCCTTCAGC	0.507000													25	101					1.88708e-17	2.49095e-17	1	1	0
PPP2R5B	5526	broad.mit.edu	37	11	64699039	64699039	+	Silent	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr11:64699039G>T	ENST00000164133.2	+	10	1576	c.954G>T	c.(952-954)cgG>cgT	p.R318R		NM_006244.3	NP_006235.1	Q15173	2A5B_HUMAN	protein phosphatase 2, regulatory subunit B', beta	318					signal transduction	cytoplasm|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity	p.R318R(1)		central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(2)	21						AGGTGATCCGGGGGCTGCTCA	0.597000													8	12					0.000978159	0.00101998	1	1	0
CHAT	1103	broad.mit.edu	37	10	50870742	50870742	+	Missense_Mutation	SNP	G	G	C			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr10:50870742G>C	ENST00000395562.2	+	15	2114	c.1645G>C	c.(1645-1647)Gcc>Ccc	p.A549P	CHAT_ENST00000395559.2_Missense_Mutation_p.A513P|CHAT_ENST00000339797.1_Missense_Mutation_p.A513P|CHAT_ENST00000455728.2_Missense_Mutation_p.A513P|CHAT_ENST00000351556.3_Missense_Mutation_p.A513P|CHAT_ENST00000337653.2_Missense_Mutation_p.A631P	NM_001142933.1|NM_001142934.1	NP_001136405.1|NP_001136406.1	P28329	CLAT_HUMAN	choline O-acetyltransferase	631					neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity	p.A631P(1)		central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)	GCGGGAGCTGGCCCGGGCCAT	0.587000													76	95					0	0	1	0	0
SIGLECL1	284369	broad.mit.edu	37	19	51770634	51770634	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr19:51770634C>A	ENST00000316401.7	+	5	799	c.418C>A	c.(418-420)Cat>Aat	p.H140N	SIGLECL1_ENST00000597824.1_Missense_Mutation_p.H46N|CTD-3187F8.2_ENST00000597569.1_RNA|SIGLECL1_ENST00000593968.1_3'UTR	NM_173635.1	NP_775906.1			SIGLEC family like 1									p.H140N(1)									TAGAGTGAAACATATCAGAAA	0.453000													81	244					1.36798e-35	2.23092e-35	1	1	0
BRD4	23476	broad.mit.edu	37	19	15365073	15365073	+	Splice_Site	SNP	G	G	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr19:15365073G>A	ENST00000263377.2	-	11	2269	c.2047_splice	c.e11-1	p.A683_splice	BRD4_ENST00000360016.5_Splice_Site_p.A683_splice|BRD4_ENST00000371835.4_Splice_Site_p.A683_splice	NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	bromodomain containing 4	683					interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle	condensed nuclear chromosome|cytoplasm	protein binding	p.A683V(2)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			AACTTTCTCAGCTGCAATCCA	0.582000			T	C15orf55	lethal midline carcinoma of young people								23	9					0	0	1	0	0
VAV3	10451	broad.mit.edu	37	1	108315358	108315358	+	Splice_Site	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr1:108315358G>T	ENST00000370056.4	-	5	828	c.555_splice	c.e5+1	p.P185_splice	VAV3_ENST00000527011.1_Splice_Site_p.P185_splice|VAV3_ENST00000343258.4_5'UTR|VAV3_ENST00000371846.4_Splice_Site_p.P120_splice	NM_006113.4	NP_006104.4	Q9UKW4	VAV3_HUMAN	vav 3 guanine nucleotide exchange factor	185					angiogenesis|apoptosis|B cell receptor signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of B cell proliferation|regulation of Rho protein signal transduction|response to DNA damage stimulus|response to drug|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity	p.P185H(1)		NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1)	58		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)		AAGTCCTACGGGCTGATGTGC	0.348000													62	23					6.20203e-27	9.10822e-27	1	1	0
PPP1R3A	5506	broad.mit.edu	37	7	113518041	113518041	+	Nonsense_Mutation	SNP	G	G	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr7:113518041G>A	ENST00000284601.3	-	4	3174	c.3106C>T	c.(3106-3108)Caa>Taa	p.Q1036*		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	1036					glycogen metabolic process	integral to membrane		p.Q1036*(1)		NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						TATAGTGATTGCCCAGAGCTT	0.398000													215	310					0	0	1	0	0
SACS	26278	broad.mit.edu	37	13	23909782	23909782	+	Nonsense_Mutation	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr13:23909782C>A	ENST00000382298.3	-	10	8821	c.8233G>T	c.(8233-8235)Gaa>Taa	p.E2745*	SACS_ENST00000382292.3_Nonsense_Mutation_p.E2745*|SACS_ENST00000402364.1_Nonsense_Mutation_p.E1995*	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	2745					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.E2598*(1)|p.E2745*(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)		GAAATTTTTTCCATGTGATTA	0.383000													26	44					8.24728e-16	1.05392e-15	1	1	0
NBN	4683	broad.mit.edu	37	8	90982638	90982638	+	Missense_Mutation	SNP	C	C	G			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr8:90982638C>G	ENST00000265433.3	-	7	1004	c.850G>C	c.(850-852)Gac>Cac	p.D284H	NBN_ENST00000409330.1_Missense_Mutation_p.D202H	NM_002485.4	NP_002476.2	O60934	NBN_HUMAN	nibrin	284					cell cycle arrest|DNA damage response, signal transduction by p53 class mediator|DNA duplex unwinding|double-strand break repair via homologous recombination|meiosis|mitotic cell cycle G1/S transition checkpoint|mitotic cell cycle G2/M transition DNA damage checkpoint|positive regulation of kinase activity|positive regulation of protein autophosphorylation|regulation of DNA-dependent DNA replication initiation|telomere maintenance	Mre11 complex|nuclear chromosome, telomeric region|nuclear inclusion body|nucleolus|nucleoplasm	protein N-terminus binding|transcription factor binding	p.D284H(1)		autonomic_ganglia(1)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27			BRCA - Breast invasive adenocarcinoma(11;0.0344)			TTCTGACAGTCAGGAATTAAG	0.333000								Homologous recombination					44	99					0	0	1	0	0
ANLN	54443	broad.mit.edu	37	7	36462361	36462361	+	Missense_Mutation	SNP	T	T	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr7:36462361T>A	ENST00000265748.2	+	14	2640	c.2419T>A	c.(2419-2421)Tca>Aca	p.S807T	ANLN_ENST00000396068.2_Missense_Mutation_p.S770T	NM_018685.2	NP_061155.2	Q9NQW6	ANLN_HUMAN	anillin, actin binding protein	807	Localization to the cleavage furrow.				cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly	actomyosin contractile ring|nucleus	actin binding	p.S807T(1)		breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2)	45						AGTTACTTTGTCAGAAATCCG	0.388000													30	153					0	0	1	0	0
IFIH1	64135	broad.mit.edu	37	2	163133431	163133431	+	Silent	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr2:163133431C>A	ENST00000263642.2	-	11	2465	c.2070G>T	c.(2068-2070)ctG>ctT	p.L690L		NM_022168.3	NP_071451.2	Q9BYX4	IFIH1_HUMAN	interferon induced with helicase C domain 1	690					detection of virus|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|regulation of apoptosis	cytosol|nucleus	ATP binding|DNA binding|double-stranded RNA binding|helicase activity|protein binding|ribonucleoprotein binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	39						GGTTTTCAGCCAGCCTTTTCA	0.323000													29	78					2.68265e-12	3.29314e-12	1	1	0
MXD4	10608	broad.mit.edu	37	4	2254171	2254171	+	Silent	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr4:2254171C>A	ENST00000337190.2	-	4	586	c.273G>T	c.(271-273)acG>acT	p.T91T		NM_006454.2	NP_006445.1	Q14582	MAD4_HUMAN	MAX dimerization protein 4	91	Helix-loop-helix motif.				negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|transcription corepressor activity	p.T91T(1)		breast(1)|endometrium(1)|kidney(1)|lung(3)	6						GGAGGCTCAGCGTGGTGTGGC	0.637000													3	6					0.0215528	0.0218251	1	1	0
PER2	8864	broad.mit.edu	37	2	239157728	239157728	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr2:239157728C>A	ENST00000254657.3	-	22	3872	c.3593G>T	c.(3592-3594)gGc>gTc	p.G1198V	PER2_ENST00000254658.3_3'UTR|AC096574.4_ENST00000456601.1_RNA	NM_022817.2	NP_073728.1	O15055	PER2_HUMAN	period circadian clock 2	1198	CRY binding domain (By similarity).				circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|signal transducer activity	p.G1198F(1)		NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)		TGCGGGCAGGCCGCCCGTCTG	0.572000													18	57					2.19962e-31	3.38079e-31	1	1	0
DACH1	1602	broad.mit.edu	37	13	72255996	72255996	+	Missense_Mutation	SNP	G	G	C			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr13:72255996G>C	ENST00000305425.4	-	2	1323	c.901C>G	c.(901-903)Cca>Gca	p.P301A	DACH1_ENST00000359684.2_Missense_Mutation_p.P301A|DACH1_ENST00000313174.7_Missense_Mutation_p.P301A|DACH1_ENST00000354591.4_Missense_Mutation_p.P301A	NM_080759.4	NP_542937.2	Q9UI36	DACH1_HUMAN	dachshund homolog 1 (Drosophila)	299	Interaction with SIX6 and HDAC3 (By similarity).				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|nucleotide binding|protein binding	p.P301A(1)		NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		GAGTTCTCTGGGGAGGTGACA	0.418000													57	41					0	0	1	0	0
TRBV7-1	28597	broad.mit.edu	37	7	142032526	142032526	+	RNA	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr7:142032526G>T	ENST00000547918.2	+	0	379																											CAGCAGCTCAGCCACAGCACT	0.512000													20	35					3.5997e-14	4.53805e-14	1	1	0
LRRIQ1	84125	broad.mit.edu	37	12	85546113	85546113	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr12:85546113C>T	ENST00000393217.2	+	20	4446	c.4385C>T	c.(4384-4386)aCa>aTa	p.T1462I		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	1462								p.T1462I(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		CCTTCACAAACACTGCTTCTT	0.393000													40	95					0	0	1	0	0
KMT2C	58508	broad.mit.edu	37	7	151919678	151919678	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr7:151919678G>T	ENST00000355193.2	-	21	3631	c.3413C>A	c.(3412-3414)cCc>cAc	p.P1138H	KMT2C_ENST00000262189.6_Missense_Mutation_p.P1138H					lysine (K)-specific methyltransferase 2C									p.P1138H(2)									AGGCATATAGGGTCTGCACAT	0.398000													16	62					3.41278e-10	4.02221e-10	1	1	0
MYL4	4635	broad.mit.edu	37	17	45299121	45299121	+	Silent	SNP	G	G	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr17:45299121G>A	ENST00000354968.1	+	5	515	c.387G>A	c.(385-387)caG>caA	p.Q129Q	MYL4_ENST00000393450.1_Silent_p.Q129Q|MYL4_ENST00000572316.1_Silent_p.Q129Q	NM_001002841.1	NP_001002841.1	P12829	MYL4_HUMAN	myosin, light chain 4, alkali; atrial, embryonic	129					cardiac muscle contraction|muscle filament sliding|muscle organ development|positive regulation of ATPase activity|regulation of the force of heart contraction	A band|cytosol|muscle myosin complex	actin filament binding|actin monomer binding|calcium ion binding|myosin II heavy chain binding|structural constituent of muscle	p.Q129Q(1)		endometrium(2)|large_intestine(1)|lung(4)|ovary(3)|prostate(1)	11						ACAAGGAGCAGGGCACCTATG	0.557000													5	126					0	0	1	0	0
CACNA2D1	781	broad.mit.edu	37	7	81964549	81964549	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr7:81964549C>A	ENST00000356860.3	-	3	534	c.196G>T	c.(196-198)Gat>Tat	p.D66Y	CACNA2D1_ENST00000423588.1_Missense_Mutation_p.D66Y|CACNA2D1_ENST00000356253.5_Missense_Mutation_p.D66Y	NM_000722.2	NP_000713.2	P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	66						voltage-gated calcium channel complex	metal ion binding	p.D66Y(1)		breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)	GTATACAAATCTTGATATTTC	0.353000													16	97					0.000229342	0.000241843	1	1	0
SLC26A8	116369	broad.mit.edu	37	6	35918953	35918953	+	Nonsense_Mutation	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr6:35918953G>T	ENST00000490799.1	-	19	2812	c.2459C>A	c.(2458-2460)tCa>tAa	p.S820*	SLC26A8_ENST00000355574.2_Nonsense_Mutation_p.S820*|SLC26A8_ENST00000394602.2_Nonsense_Mutation_p.S715*	NM_052961.3	NP_443193.1	Q96RN1	S26A8_HUMAN	solute carrier family 26 (anion exchanger), member 8	820	Interaction with RACGAP1.				cell differentiation|meiosis|multicellular organismal development|spermatogenesis	integral to membrane|plasma membrane	anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity	p.S820*(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						GTCTGTTTCTGAGTAGGTTTC	0.552000													92	97					1.9643e-79	3.66103e-79	1	1	0
IPO8	10526	broad.mit.edu	37	12	30837254	30837254	+	Silent	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr12:30837254G>T	ENST00000256079.4	-	3	642	c.304C>A	c.(304-306)Cgg>Agg	p.R102R		NM_006390.3	NP_006381.2	O15397	IPO8_HUMAN	importin 8	102	Importin N-terminal.				intracellular protein transport|signal transduction	cytoplasm|nucleus	protein transporter activity|Ran GTPase binding	p.R102R(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(16)|liver(1)|lung(22)|prostate(2)|skin(2)|urinary_tract(2)	52	all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					TCTGGAGACCGAATTATTCCT	0.418000													97	195					8.73416e-63	1.59605e-62	1	1	0
SRRM2	23524	broad.mit.edu	37	16	2815970	2815970	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr16:2815970G>T	ENST00000301740.8	+	11	5990	c.5441G>T	c.(5440-5442)cGg>cTg	p.R1814L		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	1814	Arg-rich.|Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding	p.R1814L(1)		breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						ACTCGGCGGCGGAGGGGAGGC	0.617000													4	8					1	1	1	1	0
OR56A4	120793	broad.mit.edu	37	11	6023494	6023494	+	Silent	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr11:6023494C>A	ENST00000330728.4	-	1	930	c.885G>T	c.(883-885)acG>acT	p.T295T		NM_001005179.2	NP_001005179.2	Q8NGH8	O56A4_HUMAN	olfactory receptor, family 56, subfamily A, member 4	243					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T295T(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	32		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGGAACCACACGTGCTCAAGG	0.488000													34	54					1.62957e-23	2.32618e-23	1	1	0
OR5AP2	338675	broad.mit.edu	37	11	56409890	56409890	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr11:56409890C>A	ENST00000544374.1	-	1	57	c.29G>T	c.(28-30)gGc>gTc	p.G10V	OR5AP2_ENST00000302981.1_Missense_Mutation_p.G9V			Q8NGF4	O5AP2_HUMAN	olfactory receptor, family 5, subfamily AP, member 2	9					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G9V(1)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	29						TTGATTTCTGCCTCGAACCTC	0.368000													34	67					4.14481e-20	5.68518e-20	1	1	0
XDH	7498	broad.mit.edu	37	2	31570447	31570447	+	Missense_Mutation	SNP	G	G	C			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr2:31570447G>C	ENST00000379416.3	-	29	3265	c.3217C>G	c.(3217-3219)Ccc>Gcc	p.P1073A		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	1073					purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity	p.P1073A(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	GAGGTGTTGGGCACAGTGTTA	0.562000													34	58					0	0	1	0	0
PCDHA10	56139	broad.mit.edu	37	5	140237084	140237084	+	Missense_Mutation	SNP	A	A	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr5:140237084A>T	ENST00000307360.5	+	1	1451	c.1451A>T	c.(1450-1452)cAg>cTg	p.Q484L	PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA10_ENST00000506939.2_Missense_Mutation_p.Q484L|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron	NM_018901.2|NM_031859.1	NP_061724.1|NP_114065.1												p.Q484L(2)		NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGGACGCGCAGGAGAACGCC	0.662000													11	30					0	0	1	0	0
CDC14B	8555	broad.mit.edu	37	9	99285924	99285924	+	Missense_Mutation	SNP	C	C	G			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr9:99285924C>G	ENST00000375241.1	-	10	1481	c.1030G>C	c.(1030-1032)Gtc>Ctc	p.V344L	CDC14B_ENST00000375242.3_Missense_Mutation_p.V307L|CDC14B_ENST00000375236.1_Missense_Mutation_p.V344L|CDC14B_ENST00000463569.1_Missense_Mutation_p.V344L|CDC14B_ENST00000265659.2_Missense_Mutation_p.V344L|CDC14B_ENST00000375240.3_Missense_Mutation_p.V344L	NM_003671.3|NM_033331.2	NP_003662.1|NP_201588.1	O60729	CC14B_HUMAN	cell division cycle 14B	344	B.				activation of anaphase-promoting complex activity|DNA repair|G2/M transition DNA damage checkpoint	nucleolus|nucleoplasm	protein binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.V344L(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)	15		Acute lymphoblastic leukemia(62;0.0559)				CAGATCCTGACCCACGCAATG	0.527000													20	63					0	0	1	0	0
DNAH10	196385	broad.mit.edu	37	12	124297768	124297768	+	Nonsense_Mutation	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr12:124297768G>T	ENST00000409039.3	+	19	2873	c.2848G>T	c.(2848-2850)Gaa>Taa	p.E950*		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	950	Poly-Glu.|Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.E950*(1)|p.E768*(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		GAAGGGGGAGGAAGAGGAAGT	0.393000													49	85					7.34454e-26	1.07021e-25	1	1	0
TRPS1	7227	broad.mit.edu	37	8	116617221	116617221	+	Silent	SNP	T	T	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr8:116617221T>A	ENST00000395715.3	-	4	1552	c.975A>T	c.(973-975)tcA>tcT	p.S325S	TRPS1_ENST00000519076.1_Silent_p.S266S|TRPS1_ENST00000520276.1_Silent_p.S316S|TRPS1_ENST00000519674.1_Silent_p.S312S|TRPS1_ENST00000220888.5_Silent_p.S312S	NM_014112.2	NP_054831.2	Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	312					negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.S325S(1)|p.S312S(1)		autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			ATGTTCCACCTGAAGTCACCT	0.463000									Langer-Giedion syndrome				53	92					0	0	1	0	0
PLEKHH1	57475	broad.mit.edu	37	14	68029127	68029127	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr14:68029127G>T	ENST00000329153.5	+	7	911	c.779G>T	c.(778-780)gGa>gTa	p.G260V		NM_020715.2	NP_065766.1	Q9ULM0	PKHH1_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 1	260						cytoskeleton	binding	p.G299V(1)|p.G260V(1)		endometrium(2)|kidney(4)|lung(12)|urinary_tract(1)	19				all cancers(60;0.000771)|OV - Ovarian serous cystadenocarcinoma(108;0.00502)|BRCA - Breast invasive adenocarcinoma(234;0.011)		CCTCATCTGGGAAGAGAGAGC	0.542000													24	37					1.71298e-08	1.9652e-08	1	1	0
QSOX2	169714	broad.mit.edu	37	9	139115927	139115927	+	Silent	SNP	C	C	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr9:139115927C>T	ENST00000358701.5	-	4	547	c.510G>A	c.(508-510)caG>caA	p.Q170Q		NM_181701.3	NP_859052.3	Q6ZRP7	QSOX2_HUMAN	quiescin Q6 sulfhydryl oxidase 2	170	Thioredoxin.				cell redox homeostasis	extracellular region|integral to membrane|nuclear membrane|plasma membrane	thiol oxidase activity	p.Q170Q(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)	22		Myeloproliferative disorder(178;0.0511)		Epithelial(140;7.78e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.55e-07)		CAATCATCGTCTGTCTGACTG	0.627000													16	25					0	0	1	0	0
RPGRIP1L	23322	broad.mit.edu	37	16	53726179	53726179	+	Missense_Mutation	SNP	C	C	G			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr16:53726179C>G	ENST00000262135.4	-	4	421	c.328G>C	c.(328-330)Gaa>Caa	p.E110Q	RPGRIP1L_ENST00000379925.3_Missense_Mutation_p.E110Q|RPGRIP1L_ENST00000564374.1_Missense_Mutation_p.E110Q|RPGRIP1L_ENST00000563746.1_Missense_Mutation_p.E110Q	NM_001127897.1	NP_001121369.1	Q68CZ1	FTM_HUMAN	RPGRIP1-like	110					negative regulation of G-protein coupled receptor protein signaling pathway	cell-cell junction|centrosome|cilium axoneme|microtubule basal body	thromboxane A2 receptor binding	p.E110Q(1)		endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2)	46		all_cancers(37;0.0973)				TCAATCATTTCTTCCATTTCC	0.448000													15	106					0	0	1	0	0
OR5P3	120066	broad.mit.edu	37	11	7846682	7846682	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr11:7846682C>A	ENST00000328375.1	-	1	837	c.838G>T	c.(838-840)Gtg>Ttg	p.V280L	RP11-35J10.5_ENST00000527565.1_lincRNA	NM_153445.1	NP_703146.1	Q8WZ94	OR5P3_HUMAN	olfactory receptor, family 5, subfamily P, member 3	280					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V280L(1)		autonomic_ganglia(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)	15				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GGAATCACCACGGTGTAGAAC	0.453000													27	119					8.88839e-20	1.21029e-19	1	1	0
OVCH1	341350	broad.mit.edu	37	12	29624753	29624753	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr12:29624753G>A	ENST00000318184.5	-	16	1837	c.1838C>T	c.(1837-1839)gCa>gTa	p.A613V	OVCH1-AS1_ENST00000549411.1_Intron|OVCH1-AS1_ENST00000551108.1_Intron	NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1	613	Peptidase S1 2.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity	p.A613V(1)		NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					ACAGTGGGCTGCGGTCAGAAT	0.493000													37	53					0	0	1	0	0
CACNA1E	777	broad.mit.edu	37	1	181684527	181684527	+	Splice_Site	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr1:181684527G>T	ENST00000526775.1	+	9	1390	c.1225_splice	c.e9+1	p.V409_splice	CACNA1E_ENST00000367573.2_Splice_Site_p.V409_splice|CACNA1E_ENST00000358338.5_Splice_Site_p.V360_splice|CACNA1E_ENST00000367567.4_Splice_Site_p.V16_splice|CACNA1E_ENST00000357570.5_Splice_Site_p.V360_splice|CACNA1E_ENST00000360108.3_Splice_Site_p.V409_splice|CACNA1E_ENST00000367570.1_Splice_Site_p.V409_splice	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	409					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.V409L(2)		NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						CGCCTTAGAAGGTAAGGAAAT	0.383000													6	28					0.000157383	0.000166589	1	1	0
DDC	1644	broad.mit.edu	37	7	50563117	50563117	+	Splice_Site	SNP	T	T	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr7:50563117T>A	ENST00000444124.2	-	9	1077		c.e9-2		DDC_ENST00000380984.4_Splice_Site|DDC_ENST00000357936.5_Splice_Site|DDC_ENST00000431062.1_Splice_Site|DDC_ENST00000426377.1_Splice_Site	NM_001082971.1	NP_001076440.1	P20711	DDC_HUMAN	dopa decarboxylase (aromatic L-amino acid decarboxylase)						cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion	cytosol	aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding	p.?(2)		breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1)	40	Glioma(55;0.08)|all_neural(89;0.245)				Amantadine(DB00915)|Carbidopa(DB00190)|Flupenthixol(DB00875)|L-Tryptophan(DB00150)|Levodopa(DB01235)|Pimozide(DB01100)|Pyridoxal Phosphate(DB00114)|Remoxipride(DB00409)	ATCTGCAAACTGCCAAAGAAC	0.338000													12	37					0	0	1	0	0
ATP10B	23120	broad.mit.edu	37	5	160076224	160076224	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr5:160076224C>T	ENST00000327245.5	-	8	1561	c.715G>A	c.(715-717)Gtg>Atg	p.V239M		NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	239					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	p.V239M(1)		NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TTCTCACACACGATGGTATTG	0.408000													17	81					0	0	1	0	0
MUC4	4585	broad.mit.edu	37	3	195516223	195516223	+	Missense_Mutation	SNP	G	G	C			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr3:195516223G>C	ENST00000463781.3	-	2	2687	c.2228C>G	c.(2227-2229)tCt>tGt	p.S743C	MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.S743C|MUC4_ENST00000349607.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	748					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	p.S743C(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		TGACACTACAGAGTTGGCCAG	0.602000													13	8					0	0	1	0	0
PDE10A	10846	broad.mit.edu	37	6	165806140	165806140	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr6:165806140G>A	ENST00000366882.1	-	17	1775	c.1621C>T	c.(1621-1623)Ctt>Ttt	p.L541F	PDE10A_ENST00000539869.2_Missense_Mutation_p.L551F|PDE10A_ENST00000354448.4_Missense_Mutation_p.L541F			Q9Y233	PDE10_HUMAN	phosphodiesterase 10A	541					platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding	p.L541F(1)		breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Dipyridamole(DB00975)	CCCACCTCAAGGTCTGTGAAA	0.458000													109	312					0	0	1	0	0
ATP1B3	483	broad.mit.edu	37	3	141632604	141632604	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr3:141632604G>T	ENST00000539728.1	+	5	708	c.415G>T	c.(415-417)Gca>Tca	p.A139S	ATP1B3_ENST00000286371.3_Missense_Mutation_p.A153S|ATP1B3_ENST00000462082.1_Intron			P54709	AT1B3_HUMAN	ATPase, Na+/K+ transporting, beta 3 polypeptide	153					ATP biosynthetic process|blood coagulation|leukocyte migration	melanosome|sodium:potassium-exchanging ATPase complex	protein binding|sodium:potassium-exchanging ATPase activity	p.A153S(1)		cervix(1)|endometrium(1)|lung(2)	4						ATTACTTCAAGCATGCAGTGG	0.398000													134	69					1.47408e-88	2.76575e-88	1	1	0
XPOT	11260	broad.mit.edu	37	12	64819617	64819617	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr12:64819617G>T	ENST00000332707.5	+	15	2124	c.1595G>T	c.(1594-1596)gGt>gTt	p.G532V		NM_007235.4	NP_009166.2	O43592	XPOT_HUMAN	exportin, tRNA	532	Necessary for tRNA-binding, cytoplasmic localization and nuclear export.				intracellular protein transport|tRNA export from nucleus	cytoplasm|nucleoplasm	protein transporter activity|tRNA binding	p.G532V(1)		NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				GBM - Glioblastoma multiforme(28;0.0404)		GATCACAGAGGTCTGCGGCAT	0.373000													62	169					1.10345e-40	1.85341e-40	1	1	0
PRKDC	5591	broad.mit.edu	37	8	48855770	48855770	+	Splice_Site	SNP	T	T	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr8:48855770T>A	ENST00000314191.2	-	10	1021	c.966_splice	c.e10+1	p.Q322_splice	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Splice_Site_p.Q322_splice	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	322					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding	p.Q322L(2)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				TTGTGGTACCTGTTTCAGAAA	0.353000								Non-homologous end-joining					22	8					0	0	1	0	0
FAP	2191	broad.mit.edu	37	2	163082062	163082062	+	Silent	SNP	T	T	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr2:163082062T>A	ENST00000188790.4	-	4	423	c.216A>T	c.(214-216)gcA>gcT	p.A72A	FAP_ENST00000443424.1_Silent_p.A72A	NM_004460.2	NP_004451.2	Q12884	SEPR_HUMAN	fibroblast activation protein, alpha	72					endothelial cell migration|negative regulation of extracellular matrix disassembly|proteolysis	cell junction|integral to membrane|invadopodium membrane|lamellipodium membrane	dipeptidyl-peptidase activity|metalloendopeptidase activity|protein homodimerization activity|serine-type endopeptidase activity	p.A72A(1)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)	63						TATTGTTATCTGCAGATTGAT	0.303000													29	49					0	0	1	0	0
CBX2	84733	broad.mit.edu	37	17	77757733	77757733	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr17:77757733G>T	ENST00000310942.4	+	5	595	c.491G>T	c.(490-492)cGg>cTg	p.R164L		NM_005189.2	NP_005180.1	Q14781	CBX2_HUMAN	chromobox homolog 2	164					cell differentiation|chromatin modification|development of primary sexual characteristics|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	PcG protein complex	DNA binding	p.R164L(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)	16			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			CGGAAGAAGCGGGGACGAAAG	0.677000													4	1					1.06961e-07	1.21223e-07	1	1	0
TRHDE	29953	broad.mit.edu	37	12	72680664	72680664	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr12:72680664C>T	ENST00000261180.4	+	2	1079	c.983C>T	c.(982-984)tCc>tTc	p.S328F		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	328					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding	p.S328F(1)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						CCTCTCATGTCCACATATTAT	0.398000													46	94					0	0	1	0	0
LRRC40	55631	broad.mit.edu	37	1	70652948	70652948	+	Splice_Site	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr1:70652948C>A	ENST00000370952.3	-	3	486	c.407_splice	c.e3+1	p.S136_splice		NM_017768.4	NP_060238.3	Q9H9A6	LRC40_HUMAN	leucine rich repeat containing 40	136								p.S136I(1)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(2)	27						TAATTTTTACCTGACATTAAG	0.249000													15	9					5.03518e-11	6.03576e-11	1	1	0
SEC24B	10427	broad.mit.edu	37	4	110448546	110448546	+	Nonsense_Mutation	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr4:110448546G>T	ENST00000265175.5	+	18	3089	c.3034G>T	c.(3034-3036)Gga>Tga	p.G1012*	SEC24B_ENST00000399100.2_Nonsense_Mutation_p.G977*|SEC24B_ENST00000504968.2_Nonsense_Mutation_p.G1042*	NM_006323.2	NP_006314.2	O95487	SC24B_HUMAN	SEC24 family member B	1012					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|transporter activity|zinc ion binding	p.G977*(1)|p.G1012*(1)		breast(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)		TGTATATGCGGGAGTGGATGT	0.368000													55	58					1.38705e-31	2.13774e-31	1	1	0
FAM171B	165215	broad.mit.edu	37	2	187625877	187625877	+	Silent	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr2:187625877C>A	ENST00000304698.5	+	7	1253	c.1050C>A	c.(1048-1050)gcC>gcA	p.A350A		NM_177454.3	NP_803237.3	Q6P995	F171B_HUMAN	family with sequence similarity 171, member B	350						integral to membrane	DNA binding	p.A350A(1)		NS(1)|breast(6)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(22)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						ACATAACTGCCTACCACACAG	0.338000													38	70					1.56793e-16	2.02208e-16	1	1	0
TEX10	54881	broad.mit.edu	37	9	103088600	103088600	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr9:103088600C>A	ENST00000374902.4	-	9	2139	c.1963G>T	c.(1963-1965)Ggg>Tgg	p.G655W	TEX10_ENST00000535814.1_Missense_Mutation_p.G658W	NM_017746.3	NP_060216.2	Q9NXF1	TEX10_HUMAN	testis expressed 10	655						integral to membrane|MLL1 complex|nuclear membrane|nucleolus	binding	p.G655W(1)		NS(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	38		Acute lymphoblastic leukemia(62;0.0527)		OV - Ovarian serous cystadenocarcinoma(323;0.157)		TGCAGTATCCCGATAAGCATG	0.418000													38	137					5.34276e-22	7.54984e-22	1	1	0
IL7R	3575	broad.mit.edu	37	5	35876346	35876346	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr5:35876346C>A	ENST00000303115.3	+	8	1267	c.1138C>A	c.(1138-1140)Cct>Act	p.P380T	IL7R_ENST00000343305.4_3'UTR	NM_002185.3	NP_002176.2	P16871	IL7RA_HUMAN	interleukin 7 receptor	380					immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity	p.P380T(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			ATGTGACGCCCCTATTCTCTC	0.537000			"""Mis, O"""		"""ALL, ETP ALL"""		Severe combined immune deficiency						31	69					3.78316e-11	4.5544e-11	1	1	0
ATP12A	479	broad.mit.edu	37	13	25264583	25264583	+	Silent	SNP	C	C	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr13:25264583C>T	ENST00000218548.6	+	6	987	c.654C>T	c.(652-654)atC>atT	p.I218I	ATP12A_ENST00000381946.3_Silent_p.I218I	NM_001185085.1|NM_001676.5	NP_001172014.1|NP_001667.4	P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	218					ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding	p.I218I(1)		breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	Esomeprazole(DB00736)|Pantoprazole(DB00213)	CTGCAGACATCAGGGTGCTGT	0.572000													15	132					0	0	1	0	0
TLR8	51311	broad.mit.edu	37	X	12940213	12940213	+	Silent	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chrX:12940213G>T	ENST00000218032.6	+	2	3141	c.3054G>T	c.(3052-3054)ctG>ctT	p.L1018L	TLR8_ENST00000311912.5_Silent_p.L1036L	NM_138636.4	NP_619542.1	Q9NR97	TLR8_HUMAN	toll-like receptor 8	1018	TIR.				cellular response to mechanical stimulus|defense response to virus|I-kappaB kinase/NF-kappaB cascade|immunoglobulin mediated immune response|inflammatory response|innate immune response|positive regulation of innate immune response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process	endosome membrane	DNA binding|double-stranded RNA binding|single-stranded RNA binding|transmembrane receptor activity			breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						GGCAAACTCTGAGAAATGTGG	0.443000													8	242					2.17888e-05	2.3552e-05	1	1	0
ZNF398	57541	broad.mit.edu	37	7	148876178	148876178	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr7:148876178G>T	ENST00000420008.2	+	6	1489	c.701G>T	c.(700-702)aGg>aTg	p.R234M	ZNF398_ENST00000483892.1_Missense_Mutation_p.R234M|ZNF398_ENST00000335901.4_Missense_Mutation_p.R234M|ZNF398_ENST00000491174.1_Missense_Mutation_p.R234M|ZNF398_ENST00000475153.1_Missense_Mutation_p.R405M|ZNF398_ENST00000540950.1_Missense_Mutation_p.R410M|ZNF398_ENST00000426851.2_Missense_Mutation_p.R234M	NM_170686.2	NP_733787.1	Q8TD17	ZN398_HUMAN	zinc finger protein 398	405					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R405M(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)	25	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00143)			CACTGTGCCAGGACTTTTACT	0.582000													59	54					4.83248e-46	8.26531e-46	1	1	0
ADAM32	203102	broad.mit.edu	37	8	39027483	39027483	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr8:39027483G>T	ENST00000379907.4	+	10	1009	c.882G>T	c.(880-882)atG>atT	p.M294I	ADAM32_ENST00000519315.1_Missense_Mutation_p.M294I|ADAM32_ENST00000437682.2_Missense_Mutation_p.M301I	NM_145004.5	NP_659441.3	Q8TC27	ADA32_HUMAN	ADAM metallopeptidase domain 32	294	Peptidase M12B.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding	p.M293I(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	31		all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503)	LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146)			CTGGAACAATGTGTATTACTC	0.244000													64	38					1.11883e-47	1.93127e-47	1	1	0
DDI1	414301	broad.mit.edu	37	11	103908205	103908205	+	Silent	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr11:103908205C>A	ENST00000302259.3	+	1	898	c.655C>A	c.(655-657)Cgg>Agg	p.R219R	PDGFD_ENST00000302251.5_Intron|PDGFD_ENST00000393158.2_Intron	NM_001001711.2	NP_001001711.1	Q8WTU0	DDI1_HUMAN	DNA-damage inducible 1 homolog 1 (S. cerevisiae)	219					proteolysis		aspartic-type endopeptidase activity	p.R219R(2)		central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)		AGAGGAAATCCGGCAGCAAAA	0.483000													20	32					7.33628e-21	1.01621e-20	1	1	0
OR2F2	135948	broad.mit.edu	37	7	143633237	143633237	+	Silent	SNP	A	A	G			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr7:143633237A>G	ENST00000408955.2	+	1	979	c.912A>G	c.(910-912)ctA>ctG	p.L304L		NM_001004685.1	NP_001004685.1	O95006	OR2F2_HUMAN	olfactory receptor, family 2, subfamily F, member 2	304					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L304L(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(19)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	32	Melanoma(164;0.0903)					GGCATAAACTATTAGAGAAAT	0.418000													16	63					0	0	1	0	0
ZPBP2	124626	broad.mit.edu	37	17	38033026	38033026	+	Silent	SNP	A	A	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr17:38033026A>T	ENST00000377940.3	+	7	1054	c.915A>T	c.(913-915)ccA>ccT	p.P305P	ZPBP2_ENST00000348931.4_Silent_p.P327P|ZPBP2_ENST00000584588.1_Silent_p.P254P	NM_198844.2	NP_942141.2	Q6X784	ZPBP2_HUMAN	zona pellucida binding protein 2	327					binding of sperm to zona pellucida	extracellular region		p.P327P(1)		kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	15	Colorectal(19;0.000442)		Lung(15;0.00849)|LUSC - Lung squamous cell carcinoma(15;0.171)			AATCTTGCCCACAAACTTCAA	0.418000													47	156					0	0	1	0	0
KRTAP4-4	84616	broad.mit.edu	37	17	39316831	39316831	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr17:39316831G>T	ENST00000390661.3	-	1	152	c.113C>A	c.(112-114)cCc>cAc	p.P38H		NM_032524.1	NP_115913.1	Q9BYR3	KRA44_HUMAN	keratin associated protein 4-4	38	26 X 5 AA repeats of C-C-[GRQVCH]-[SPT]- [VSTQR].					keratin filament		p.P38H(1)		kidney(1)|large_intestine(1)|lung(5)	7		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			ACAGCAGCTGGGGCGGCAGCA	0.652000													40	59					3.76287e-55	6.74431e-55	1	1	0
CMA1	1215	broad.mit.edu	37	14	24974789	24974789	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr14:24974789G>T	ENST00000250378.3	-	5	706	c.677C>A	c.(676-678)cCc>cAc	p.P226H	CMA1_ENST00000206446.4_Missense_Mutation_p.P115H|RP11-80A15.1_ENST00000555109.1_Intron	NM_001836.3	NP_001827.1	P23946	CMA1_HUMAN	chymase 1, mast cell	226	Peptidase S1.				interleukin-1 beta biosynthetic process|proteolysis	extracellular region	serine-type endopeptidase activity	p.P226H(1)		kidney(1)|lung(8)|pancreas(1)|prostate(1)	11				GBM - Glioblastoma multiforme(265;0.0271)		GACAGCAGGGGGCTTTGCATC	0.587000													56	47					1.41257e-51	2.46869e-51	1	1	0
TNN	63923	broad.mit.edu	37	1	175086125	175086125	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr1:175086125G>T	ENST00000239462.4	+	10	2283	c.2170G>T	c.(2170-2172)Gcc>Tcc	p.A724S		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	724	Fibronectin type-III 6.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix		p.A724S(1)		NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		AGAGAATATGGCCACTGTCTC	0.537000													54	65					7.92265e-33	1.23805e-32	1	1	0
RAP2C	57826	broad.mit.edu	37	X	131351048	131351048	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chrX:131351048G>T	ENST00000342983.2	-	2	995	c.249C>A	c.(247-249)agC>agA	p.S83R	RAP2C_ENST00000370874.1_Missense_Mutation_p.S83R|RAP2C_ENST00000460462.1_5'UTR	NM_001271186.1|NM_001271187.1|NM_021183.3	NP_001258115.1|NP_001258116.1|NP_067006.3	Q9Y3L5	RAP2C_HUMAN	RAP2C, member of RAS oncogene family	83					negative regulation of cell migration|positive regulation of protein autophosphorylation|Rap protein signal transduction|regulation of protein tyrosine kinase activity	recycling endosome membrane	GTP binding|GTPase activity	p.S83R(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|ovary(1)|upper_aerodigestive_tract(2)	8	Acute lymphoblastic leukemia(192;0.000127)					GATTAACCAGGCTATAAACCA	0.468000													3	52					0.00909568	0.00927759	1	1	0
SATB2	23314	broad.mit.edu	37	2	200173625	200173625	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr2:200173625G>T	ENST00000443023.1	-	9	2886	c.1421C>A	c.(1420-1422)aCc>aAc	p.T474N	SATB2_ENST00000457245.1_Missense_Mutation_p.T533N|SATB2_ENST00000260926.5_Missense_Mutation_p.T533N|SATB2_ENST00000428695.1_Missense_Mutation_p.T415N|SATB2_ENST00000417098.1_Missense_Mutation_p.T533N			Q9UPW6	SATB2_HUMAN	SATB homeobox 2	533						cytoplasm|nuclear matrix	sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						TTCCCAGAGGGTGCGGTTTTC	0.552000													27	47					2.20474e-14	2.792e-14	1	1	0
MLKL	197259	broad.mit.edu	37	16	74708939	74708939	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr16:74708939C>A	ENST00000308807.7	-	10	1763	c.1300G>T	c.(1300-1302)Ggt>Tgt	p.G434C	MLKL_ENST00000306247.7_Missense_Mutation_p.G226C	NM_152649.2	NP_689862.1	Q8NB16	MLKL_HUMAN	mixed lineage kinase domain-like	434	Protein kinase.						ATP binding|protein binding|protein kinase activity	p.G434C(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(6)|skin(1)|stomach(2)	19						CAGTCTTCACCCAGTGGCTCC	0.552000													9	40					1.15919e-05	1.26028e-05	1	1	0
XYLT1	64131	broad.mit.edu	37	16	17221646	17221646	+	Silent	SNP	G	G	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr16:17221646G>A	ENST00000261381.6	-	10	2184	c.2100C>T	c.(2098-2100)atC>atT	p.I700I		NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	700					glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity	p.I700I(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CATGATGCTTGATCAGAAAGC	0.517000													60	195					0	0	1	0	0
LRRC23	10233	broad.mit.edu	37	12	7023108	7023108	+	Missense_Mutation	SNP	A	A	G			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr12:7023108A>G	ENST00000323702.5	+	7	924	c.812A>G	c.(811-813)cAc>cGc	p.H271R	LRRC23_ENST00000436789.1_3'UTR|LRRC23_ENST00000443597.2_3'UTR|LRRC23_ENST00000007969.8_3'UTR|LRRC23_ENST00000429740.1_Missense_Mutation_p.T182A	NM_006992.3	NP_008923.1	Q53EV4	LRC23_HUMAN	leucine rich repeat containing 23	0								p.H271R(1)		NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|stomach(1)	13						GGCAGCCACCACATGTATGAC	0.547000													42	89					0	0	1	0	0
TENM1	10178	broad.mit.edu	37	X	123518364	123518364	+	Silent	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chrX:123518364G>T	ENST00000422452.2	-	30	6480	c.6417C>A	c.(6415-6417)cgC>cgA	p.R2139R	STAG2_ENST00000469481.1_Intron|TENM1_ENST00000371130.3_Silent_p.R2132R	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1									p.R2134R(1)									ATATTACCATGCGGCCCACAT	0.398000													178	129					9.38108e-128	1.81475e-127	1	1	0
CARD11	84433	broad.mit.edu	37	7	2976689	2976689	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr7:2976689G>T	ENST00000396946.4	-	9	1726	c.1323C>A	c.(1321-1323)gaC>gaA	p.D441E		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	441					positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity	p.D434E(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		GGTTGTTGCTGTCCTTGGAGA	0.672000			Mis		DLBCL								14	12					7.05477e-17	9.1614e-17	1	1	0
GRM5	2915	broad.mit.edu	37	11	88780774	88780774	+	Silent	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr11:88780774G>T	ENST00000418177.2	-	2	634	c.267C>A	c.(265-267)atC>atA	p.I89I	GRM5_ENST00000393294.3_Silent_p.I89I|GRM5_ENST00000305432.5_Silent_p.I89I|GRM5_ENST00000455756.2_Silent_p.I89I|GRM5_ENST00000305447.4_Silent_p.I89I|GRM5_ENST00000393297.1_Silent_p.I89I			P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	89					activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	p.I89I(2)		NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	AGCCCAGTGTGATGTTGGGCA	0.527000													15	16					0.000132079	0.000140069	1	1	0
SAMD9	54809	broad.mit.edu	37	7	92734038	92734038	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr7:92734038C>A	ENST00000379958.2	-	3	1642	c.1373G>T	c.(1372-1374)aGc>aTc	p.S458I		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	458						cytoplasm		p.S458I(1)		NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			TGCTACTCGGCTTTCTTTGTA	0.383000													9	42					1.08611e-07	1.22844e-07	1	1	0
SEMA5A	9037	broad.mit.edu	37	5	9190417	9190417	+	Missense_Mutation	SNP	C	C	G			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr5:9190417C>G	ENST00000382496.5	-	11	1900	c.1235G>C	c.(1234-1236)gGc>gCc	p.G412A		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	412	Sema.				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane		p.G412A(1)		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						CGCTTCTCTGCCCTGCACCAC	0.522000													11	47					0	0	1	0	0
ASXL3	80816	broad.mit.edu	37	18	31325156	31325156	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr18:31325156C>A	ENST00000269197.5	+	12	5344	c.5344C>A	c.(5344-5346)Ctt>Att	p.L1782I		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	1782					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding	p.L1782I(1)		breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						TCCATTGCCTCTTCAAACTAC	0.507000													25	71					3.17567e-06	3.5001e-06	1	1	0
GRIA1	2890	broad.mit.edu	37	5	153085295	153085295	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr5:153085295G>T	ENST00000285900.5	+	11	1834	c.1491G>T	c.(1489-1491)ttG>ttT	p.L497F	GRIA1_ENST00000518783.1_Missense_Mutation_p.L507F|GRIA1_ENST00000340592.5_Missense_Mutation_p.L497F|GRIA1_ENST00000521843.2_Missense_Mutation_p.L428F|GRIA1_ENST00000448073.4_Missense_Mutation_p.L507F|GRIA1_ENST00000518142.1_Missense_Mutation_p.L417F	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	497					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding	p.L497F(2)|p.I495fs*19(2)		NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	CTATCACTTTGGTCCGGGAAG	0.388000													4	12					0.00024832	0.000260876	1	1	0
TDP2	51567	broad.mit.edu	37	6	24667094	24667094	+	Silent	SNP	C	C	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr6:24667094C>T	ENST00000545995.1	-	1	86	c.87G>A	c.(85-87)agG>agA	p.R29R	TDP2_ENST00000378198.4_5'UTR	NM_016614.2	NP_057698.2	O95551	TYDP2_HUMAN	tyrosyl-DNA phosphodiesterase 2	0					cell surface receptor linked signaling pathway|double-strand break repair	PML body	5'-tyrosyl-DNA phosphodiesterase activity|magnesium ion binding|nuclease activity|protein binding|transcription corepressor activity			kidney(2)|large_intestine(1)|lung(5)|ovary(1)	9						ACTCCATCTTCCTGCCGCCTC	0.672000								Direct reversal of damage					6	24					0	0	1	0	0
ENPP2	5168	broad.mit.edu	37	8	120580440	120580440	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr8:120580440C>A	ENST00000427067.2	-	23	2349	c.2169G>T	c.(2167-2169)atG>atT	p.M723I	ENPP2_ENST00000522826.1_Missense_Mutation_p.M727I|ENPP2_ENST00000259486.6_Missense_Mutation_p.M754I|ENPP2_ENST00000522167.1_Missense_Mutation_p.M337I|ENPP2_ENST00000075322.6_Missense_Mutation_p.M702I			Q13822	ENPP2_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 2	702					cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration	extracellular space|integral to plasma membrane	alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding	p.M754I(1)|p.M727I(1)		breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			ACATTGGAACCATATTGGTTA	0.313000													151	209					8.31651e-93	1.5709e-92	1	1	0
TPTE	7179	broad.mit.edu	37	21	10920156	10920156	+	Silent	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr21:10920156C>A	ENST00000298232.7	-	18	1411	c.1044G>T	c.(1042-1044)ctG>ctT	p.L348L	TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000361285.4_Silent_p.L366L|TPTE_ENST00000342420.5_Silent_p.L328L	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	366	Phosphatase tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.L366L(2)|p.L348L(2)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CAAAATAATACAGGCTTTCCT	0.383000													12	259					2.23348e-06	2.46651e-06	1	1	0
PLA2R1	22925	broad.mit.edu	37	2	160901382	160901382	+	Silent	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr2:160901382C>A	ENST00000283243.7	-	2	602	c.396G>T	c.(394-396)gtG>gtT	p.V132V	PLA2R1_ENST00000392771.1_Silent_p.V132V	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1, 180kDa	132	Ricin B-type lectin.				endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding	p.V132V(1)	PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						TGTCATGCGCCACCTGGACAG	0.478000													108	153					2.93447e-47	5.04981e-47	1	1	0
LSM14A	26065	broad.mit.edu	37	19	34710724	34710724	+	Missense_Mutation	SNP	A	A	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr19:34710724A>T	ENST00000544216.3	+	8	1155	c.1078A>T	c.(1078-1080)Aat>Tat	p.N360Y	LSM14A_ENST00000540746.2_Missense_Mutation_p.N319Y|LSM14A_ENST00000433627.5_Missense_Mutation_p.N360Y	NM_015578.2	NP_056393.2	Q8ND56	LS14A_HUMAN	LSM14A, SCD6 homolog A (S. cerevisiae)	360					cytoplasmic mRNA processing body assembly|multicellular organismal development|regulation of translation	cytoplasmic mRNA processing body|intracellular membrane-bounded organelle|stress granule		p.N360Y(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(7)|skin(1)	22	Esophageal squamous(110;0.162)					ACTTGGACCTAATTGCTATTA	0.348000													36	41					0	0	1	0	0
GRM8	2918	broad.mit.edu	37	7	126173844	126173844	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr7:126173844C>T	ENST00000339582.2	-	9	2400	c.1592G>A	c.(1591-1593)gGg>gAg	p.G531E	GRM8_ENST00000480995.1_Intron|GRM8_ENST00000358373.3_Missense_Mutation_p.G531E|GRM8_ENST00000444921.2_Missense_Mutation_p.G531E			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	531					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane		p.G531E(1)		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)	GCAAGGGACCCCTTTCACCGT	0.552000										HNSCC(24;0.065)			16	86					0	0	1	0	0
F5	2153	broad.mit.edu	37	1	169513566	169513566	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr1:169513566C>T	ENST00000367796.3	-	12	2159	c.1958G>A	c.(1957-1959)gGa>gAa	p.G653E	F5_ENST00000367797.3_Missense_Mutation_p.G648E			P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	648	F5/8 type A 2.|Plastocyanin-like 4.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity	p.G648E(1)		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)	CACAGATTCTCCACGCATGGG	0.478000													54	229					0	0	1	0	0
NCOA7	135112	broad.mit.edu	37	6	126210971	126210971	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr6:126210971G>T	ENST00000368357.3	+	10	2123	c.1771G>T	c.(1771-1773)Gta>Tta	p.V591L	NCOA7_ENST00000229634.9_Missense_Mutation_p.V476L|NCOA7_ENST00000392477.2_Missense_Mutation_p.V591L	NM_001199619.1|NM_001199620.1	NP_001186548.1|NP_001186549.1	Q8NI08	NCOA7_HUMAN	nuclear receptor coactivator 7	591					cell wall macromolecule catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	p.V591L(1)		NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(2)	39				UCEC - Uterine corpus endometrioid carcinoma (4;0.0803)|GBM - Glioblastoma multiforme(226;0.0193)|all cancers(137;0.237)		GCCCCTCCCGGTAAAACTGAA	0.468000													20	34					3.5997e-14	4.53805e-14	1	1	0
INSRR	3645	broad.mit.edu	37	1	156812834	156812834	+	Nonsense_Mutation	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr1:156812834C>A	ENST00000368195.3	-	17	3484	c.3088G>T	c.(3088-3090)Gaa>Taa	p.E1030*	NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	1030	Protein kinase.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity	p.E1030*(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					ACAGAAGCTTCCTTGAGGAAC	0.527000													42	49					1.0096e-33	1.59097e-33	1	1	0
CC2D1B	200014	broad.mit.edu	37	1	52821917	52821917	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr1:52821917C>A	ENST00000371586.2	-	18	2151	c.2013G>T	c.(2011-2013)caG>caT	p.Q671H	CC2D1B_ENST00000284376.3_Missense_Mutation_p.Q665H|CC2D1B_ENST00000438831.1_Missense_Mutation_p.Q46H|CC2D1B_ENST00000460261.1_5'UTR	NM_032449.2	NP_115825.1	Q5T0F9	C2D1B_HUMAN	coiled-coil and C2 domain containing 1B	671								p.Q671H(1)		breast(1)|large_intestine(6)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	27						GGCCCTGAGCCTGGGCCAGCT	0.567000													26	92					5.60225e-13	6.95323e-13	1	1	0
SLC5A4	6527	broad.mit.edu	37	22	32620393	32620393	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr22:32620393C>A	ENST00000266086.4	-	13	1537	c.1526G>T	c.(1525-1527)gGg>gTg	p.G509V	RP1-90G24.10_ENST00000434942.1_RNA	NM_014227.2	NP_055042.1	Q9NY91	SC5A4_HUMAN	solute carrier family 5 (glucose activated ion channel), member 4	509					carbohydrate transport|sodium ion transport	integral to membrane	symporter activity	p.G509V(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|pancreas(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						CAAGCAACTCCCTGTTCCATA	0.458000													9	88					3.45872e-05	3.73142e-05	1	1	0
XIRP1	165904	broad.mit.edu	37	3	39229235	39229235	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr3:39229235G>T	ENST00000340369.3	-	2	1930	c.1702C>A	c.(1702-1704)Cag>Aag	p.Q568K	XIRP1_ENST00000421646.1_Intron|XIRP1_ENST00000396251.1_Missense_Mutation_p.Q568K	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	568	Interaction with CTNNB1 (By similarity).						actin binding	p.Q568K(1)		breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		TGTCGTTCCTGCTGCTCCCGT	0.617000													17	4					2.41591e-17	3.17974e-17	1	1	0
NOL8	55035	broad.mit.edu	37	9	95072852	95072852	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr9:95072852C>A	ENST00000545558.1	-	9	3070	c.2578G>T	c.(2578-2580)Ggc>Tgc	p.G860C	NOL8_ENST00000542053.1_Missense_Mutation_p.G792C|NOL8_ENST00000358855.4_Missense_Mutation_p.G792C|NOL8_ENST00000535387.1_Missense_Mutation_p.G822C|NOL8_ENST00000442668.2_Missense_Mutation_p.G860C			Q76FK4	NOL8_HUMAN	nucleolar protein 8	860					DNA replication|positive regulation of cell growth	nucleolus	nucleotide binding|protein binding|RNA binding	p.G862C(1)|p.G860C(1)		endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	16						CCAGCTCTGCCCTCAAACTGA	0.388000													123	456					1.9257e-63	3.53044e-63	1	1	0
EPHX1	2052	broad.mit.edu	37	1	226016460	226016460	+	Silent	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr1:226016460G>T	ENST00000366837.4	+	2	226	c.30G>T	c.(28-30)gtG>gtT	p.V10V	EPHX1_ENST00000272167.5_Silent_p.V10V	NM_000120.3	NP_000111.1	P07099	HYEP_HUMAN	epoxide hydrolase 1, microsomal (xenobiotic)	10					aromatic compound catabolic process|response to toxin	endoplasmic reticulum membrane|integral to membrane|microsome	cis-stilbene-oxide hydrolase activity|epoxide hydrolase activity	p.V10V(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	28	Breast(184;0.197)					TCACTTCAGTGCTGGGCTTTG	0.597000													4	21					0.014758	0.0149715	1	1	0
KCNK2	3776	broad.mit.edu	37	1	215345403	215345403	+	Missense_Mutation	SNP	T	T	G			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr1:215345403T>G	ENST00000444842.2	+	5	850	c.700T>G	c.(700-702)Tgt>Ggt	p.C234G	KCNK2_ENST00000391895.2_Missense_Mutation_p.C230G|KCNK2_ENST00000391894.2_Missense_Mutation_p.C219G	NM_001017425.2|NM_014217.3	NP_001017425.2|NP_055032.1	O95069	KCNK2_HUMAN	potassium channel, subfamily K, member 2	234							outward rectifier potassium channel activity	p.C234G(1)|p.C219G(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068)	Dofetilide(DB00204)	ACTATTTGGCTGTGTACTCTT	0.393000													94	140					0	0	1	0	0
TNRC6C	57690	broad.mit.edu	37	17	76045357	76045357	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr17:76045357G>A	ENST00000335749.4	+	3	783	c.214G>A	c.(214-216)Gga>Aga	p.G72R	TNRC6C_ENST00000588061.1_Missense_Mutation_p.G72R|TNRC6C_ENST00000301624.4_Missense_Mutation_p.G72R|TNRC6C_ENST00000544502.1_Missense_Mutation_p.G72R|TNRC6C_ENST00000588847.1_Missense_Mutation_p.G72R|TNRC6C_ENST00000541771.1_Missense_Mutation_p.G72R	NM_001142640.1	NP_001136112.1	Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C	72	Sufficient for interaction with argonaute family proteins.				gene silencing by RNA|regulation of translation		nucleotide binding|RNA binding	p.G72R(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			TGGTGGGGATGGAAAAATGGA	0.522000													13	116					0	0	1	0	0
FSHR	2492	broad.mit.edu	37	2	49190064	49190064	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr2:49190064G>T	ENST00000406846.2	-	10	2015	c.1896C>A	c.(1894-1896)aaC>aaA	p.N632K	FSHR_ENST00000541117.1_Missense_Mutation_p.N368K|FSHR_ENST00000346173.3_Missense_Mutation_p.N570K|FSHR_ENST00000304421.4_Missense_Mutation_p.N606K	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	632					female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding	p.N632K(2)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)	CTCTGCGAAAGTTTTTGGTAA	0.463000									Gonadal Dysgenesis, 46 XX				34	76					2.32173e-10	2.74788e-10	1	1	0
AK2	204	broad.mit.edu	37	1	33478994	33478994	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr1:33478994C>T	ENST00000373449.2	-	6	549	c.508G>A	c.(508-510)Gaa>Aaa	p.E170K	AK2_ENST00000467905.1_Missense_Mutation_p.E170K|AK2_ENST00000354858.6_Missense_Mutation_p.E170K|RP1-117O3.2_ENST00000427524.1_RNA|AK2_ENST00000480134.1_3'UTR|AK2_ENST00000548033.1_Missense_Mutation_p.E128K	NM_001199199.1|NM_013411.4	NP_001186128.1|NP_037543.1	P54819	KAD2_HUMAN	adenylate kinase 2	170					nucleobase, nucleoside and nucleotide interconversion	mitochondrial intermembrane space	adenylate kinase activity|ATP binding	p.E170K(2)		kidney(1)|large_intestine(2)|lung(4)|skin(1)	8		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)				ATCAAGGGTTCCCCGGTGATC	0.473000													8	18					0	0	1	0	0
MAML2	84441	broad.mit.edu	37	11	95825768	95825768	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr11:95825768C>A	ENST00000524717.1	-	2	2711	c.1427G>T	c.(1426-1428)gGg>gTg	p.G476V		NM_032427.1	NP_115803.1	Q8IZL2	MAML2_HUMAN	mastermind-like 2 (Drosophila)	476					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity	p.G476V(1)	CRTC3/MAML2(26)|CRTC1/MAML2(516)	breast(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	43		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)				TTTCTCCTGCCCAAATGGACC	0.607000			T	"""MECT1, CRTC3"""	salivary gland mucoepidermoid								37	62					1.32136e-16	1.70802e-16	1	1	0
KIAA0196	9897	broad.mit.edu	37	8	126061389	126061389	+	Silent	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr8:126061389C>A	ENST00000318410.7	-	19	2587	c.2238G>T	c.(2236-2238)gcG>gcT	p.A746A	KIAA0196_ENST00000517845.1_Silent_p.A598A	NM_014846.3	NP_055661.3	Q12768	STRUM_HUMAN	KIAA0196	746					cell death	WASH complex		p.A746A(1)		NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	42	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			CATCCATGGTCGCTCCCAACT	0.398000													59	112					2.47556e-37	4.0727e-37	1	1	0
ASAP2	8853	broad.mit.edu	37	2	9525405	9525405	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr2:9525405C>T	ENST00000281419.3	+	21	2388	c.2048C>T	c.(2047-2049)tCt>tTt	p.S683F	ASAP2_ENST00000315273.4_Missense_Mutation_p.S683F	NM_003887.2	NP_003878.1	O43150	ASAP2_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 2	683					regulation of ARF GTPase activity	Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|protein binding|zinc ion binding	p.S683F(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	36						AGATTTAATTCTCACGTTCAC	0.483000													8	174					0	0	1	0	0
NCKAP5	344148	broad.mit.edu	37	2	133541594	133541594	+	Silent	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr2:133541594C>A	ENST00000409261.1	-	14	3163	c.2790G>T	c.(2788-2790)ccG>ccT	p.P930P	NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000317721.6_Silent_p.P930P|NCKAP5_ENST00000409213.1_Intron	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	930	Poly-Pro.						protein binding	p.P930P(1)		NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						CTGGAGGGGGCGGAGGGGAAG	0.622000													6	9					3.09899e-07	3.49103e-07	1	1	0
CPXM1	56265	broad.mit.edu	37	20	2775235	2775235	+	Silent	SNP	C	C	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr20:2775235C>T	ENST00000380605.2	-	13	1975	c.1911G>A	c.(1909-1911)ggG>ggA	p.G637G		NM_001184699.1|NM_019609.4	NP_001171628.1|NP_062555.1	Q96SM3	CPXM1_HUMAN	carboxypeptidase X (M14 family), member 1	637					cell adhesion|proteolysis		metallocarboxypeptidase activity|zinc ion binding	p.G637G(1)		endometrium(5)|kidney(5)|large_intestine(8)|lung(17)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						CGTCAGCAATCCCAAGCTCCG	0.592000													9	104					0	0	1	0	0
ADAMTS12	81792	broad.mit.edu	37	5	33576861	33576861	+	Silent	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr5:33576861G>T	ENST00000504830.1	-	19	3605	c.3270C>A	c.(3268-3270)ccC>ccA	p.P1090P	ADAMTS12_ENST00000352040.3_Silent_p.P1005P	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1090	Spacer 2.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.P1090P(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						AAGTGAGGATGGGCTGGGAAG	0.512000										HNSCC(64;0.19)			110	198					2.31934e-59	4.19726e-59	1	1	0
PAX1	5075	broad.mit.edu	37	20	21695388	21695388	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr20:21695388C>T	ENST00000398485.2	+	5	1606	c.1552C>T	c.(1552-1554)Cca>Tca	p.P518S	PAX1_ENST00000444366.2_3'UTR	NM_001257096.1|NM_006192.4	NP_001244025.1|NP_006183.2	P15863	PAX1_HUMAN	paired box 1	518					regulation of transcription, DNA-dependent|skeletal system development|transcription from RNA polymerase II promoter	nucleus	DNA binding	p.P518S(1)|p.P424S(1)		autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(21)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	38						GCCGGACCCACCACACTTCCT	0.637000													7	14					0	0	1	0	0
DCHS2	54798	broad.mit.edu	37	4	155156960	155156960	+	Silent	SNP	G	G	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr4:155156960G>A	ENST00000357232.3	-	25	7478	c.7479C>T	c.(7477-7479)ctC>ctT	p.L2493L		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	2493	Cadherin 22.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.L2493L(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		CTTCTTTGTTGAGTTGACTTT	0.353000													4	90					0	0	1	0	0
SLC6A18	348932	broad.mit.edu	37	5	1240646	1240646	+	Splice_Site	SNP	G	G	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr5:1240646G>A	ENST00000324642.3	+	7	969	c.845_splice	c.e7-1	p.R282_splice	SLC6A18_ENST00000296821.4_Splice_Site_p.R277_splice	NM_182632.2	NP_872438.2	Q96N87	S6A18_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 18	282					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	p.R282R(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1)	34	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			TTGTGCCCAGGAATGACTGCC	0.587000													6	38					0	0	1	0	0
PRKAB1	5564	broad.mit.edu	37	12	120112183	120112183	+	Silent	SNP	C	C	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr12:120112183C>T	ENST00000229328.5	+	4	948	c.456C>T	c.(454-456)atC>atT	p.I152I	PRKAB1_ENST00000540121.1_5'UTR|PRKAB1_ENST00000541640.1_Silent_p.I152I	NM_006253.4	NP_006244.2	Q9Y478	AAKB1_HUMAN	protein kinase, AMP-activated, beta 1 non-catalytic subunit	152					cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid oxidation	cytosol		p.I152I(1)		endometrium(2)|large_intestine(3)|lung(5)	10	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.166)	Adenosine monophosphate(DB00131)|Metformin(DB00331)	TTAACAACATCATTCAAGTGA	0.418000													5	88					0	0	1	0	0
COPB1	1315	broad.mit.edu	37	11	14496111	14496111	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr11:14496111G>A	ENST00000249923.3	-	14	1967	c.1667C>T	c.(1666-1668)tCc>tTc	p.S556F	COPB1_ENST00000439561.2_Missense_Mutation_p.S556F|COPB1_ENST00000526191.1_5'UTR	NM_016451.4	NP_057535.1	P53618	COPB_HUMAN	coatomer protein complex, subunit beta 1	556					COPI coating of Golgi vesicle|interspecies interaction between organisms|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|ER-Golgi intermediate compartment|plasma membrane	protein binding|structural molecule activity	p.S556F(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	36						TGTGGCAAGGGAGGCAGCAAC	0.423000													47	213					0	0	1	0	0
IL17REL	400935	broad.mit.edu	37	22	50438923	50438923	+	Missense_Mutation	SNP	C	C	A	rs137904241		TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr22:50438923C>A	ENST00000389983.2	-	6	582	c.318G>T	c.(316-318)caG>caT	p.Q106H	IL17REL_ENST00000341280.5_Missense_Mutation_p.Q106H	NM_001001694.2	NP_001001694.2	Q6ZVW7	I17EL_HUMAN	interleukin 17 receptor E-like	106								p.Q106H(1)		endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)	6		all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236)		BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		CGAGGTGCCTCTGGTCCAGCT	0.652000													4	5					0.00909568	0.00927759	1	1	0
CSF2RB	1439	broad.mit.edu	37	22	37329915	37329915	+	Silent	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr22:37329915C>A	ENST00000262825.5	+	10	1429	c.1212C>A	c.(1210-1212)gcC>gcA	p.A404A	CSF2RB_ENST00000406230.1_Silent_p.A404A|CSF2RB_ENST00000403662.3_Silent_p.A398A|CSF2RB_ENST00000536485.1_Silent_p.A345A	NM_000395.2	NP_000386.1	P32927	IL3RB_HUMAN	colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage)	398	Fibronectin type-III 2.				respiratory gaseous exchange	granulocyte macrophage colony-stimulating factor receptor complex	cytokine receptor activity	p.A398A(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42					Sargramostim(DB00020)	ACAGCATGGCCCTGCCAGCCC	0.677000													13	2					1.10513e-12	1.36861e-12	1	1	0
ITGBL1	9358	broad.mit.edu	37	13	102367973	102367973	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr13:102367973G>T	ENST00000376180.3	+	11	1673	c.1454G>T	c.(1453-1455)tGt>tTt	p.C485F	ITGBL1_ENST00000545560.2_Missense_Mutation_p.C344F|ITGBL1_ENST00000376162.3_Missense_Mutation_p.C392F	NM_001271756.1|NM_004791.1	NP_001258685.1|NP_004782.1	O95965	ITGBL_HUMAN	integrin, beta-like 1 (with EGF-like repeat domains)	485	Cysteine-rich tandem repeats.				cell-matrix adhesion|integrin-mediated signaling pathway	extracellular region|integrin complex	binding|receptor activity	p.C485F(1)		breast(1)|large_intestine(6)|lung(16)|ovary(1)|prostate(4)|skin(3)	31	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GGAAATGCATGTGAAATCTGG	0.373000													180	141					3.54448e-97	6.71775e-97	1	1	0
TLE4	7091	broad.mit.edu	37	9	82336678	82336678	+	Nonsense_Mutation	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr9:82336678G>T	ENST00000376520.4	+	18	2785	c.1957G>T	c.(1957-1959)Gga>Tga	p.G653*	TLE4_ENST00000376552.2_Nonsense_Mutation_p.G621*|TLE4_ENST00000265284.6_Nonsense_Mutation_p.G596*|TLE4_ENST00000376544.3_Nonsense_Mutation_p.G552*|TLE4_ENST00000376534.4_Nonsense_Mutation_p.G258*|TLE4_ENST00000376537.4_Nonsense_Mutation_p.G653*			O60756	BCE1_HUMAN	transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila)	0								p.G621*(1)|p.G653*(1)		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						CCACACAGATGGAGCCAGCTG	0.473000													52	58					5.80444e-35	9.38412e-35	1	1	0
CDH8	1006	broad.mit.edu	37	16	61687618	61687618	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr16:61687618G>T	ENST00000577390.1	-	12	3248	c.2294C>A	c.(2293-2295)aCc>aAc	p.T765N	CDH8_ENST00000577730.1_Intron|CDH8_ENST00000299345.6_Intron	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	765					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.T765N(1)		biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		GTCTGATGTGGTGGACTCCAA	0.522000													12	50					0.0931896	0.0940276	1	1	0
PXDNL	137902	broad.mit.edu	37	8	52370158	52370158	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr8:52370158G>T	ENST00000356297.4	-	9	982	c.882C>A	c.(880-882)aaC>aaA	p.N294K	PXDNL_ENST00000543296.1_Missense_Mutation_p.N294K	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	294	Ig-like C2-type 1.				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	p.N294K(1)		NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				ACTCTCTGGTGTTTCGGATCA	0.443000													204	134					5.58888e-140	1.0849e-139	1	1	0
ADAMTSL3	57188	broad.mit.edu	37	15	84651595	84651595	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr15:84651595C>A	ENST00000286744.5	+	21	3439	c.3215C>A	c.(3214-3216)tCc>tAc	p.S1072Y	ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.S1072Y	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	1072						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	p.S1072Y(1)		NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			AGCACCAACTCCTGGGAGTTG	0.433000													82	123					7.22319e-40	1.20601e-39	1	1	0
OR4E2	26686	broad.mit.edu	37	14	22133768	22133768	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr14:22133768G>T	ENST00000408935.1	+	1	472	c.472G>T	c.(472-474)Ggg>Tgg	p.G158W		NM_001001912.1	NP_001001912.1	Q8NGC2	OR4E2_HUMAN	olfactory receptor, family 4, subfamily E, member 2	158					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G158W(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	15	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0137)		TCACTCACTAGGGCAGACCTT	0.488000													204	210					5.12032e-141	9.97395e-141	1	1	0
NOX5	79400	broad.mit.edu	37	15	69335109	69335109	+	Missense_Mutation	SNP	G	G	C			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr15:69335109G>C	ENST00000260364.5	+	11	1858	c.1557G>C	c.(1555-1557)agG>agC	p.R519S	NOX5_ENST00000530406.2_Missense_Mutation_p.R509S|NOX5_ENST00000455873.3_Missense_Mutation_p.R502S|NOX5_ENST00000448182.3_Missense_Mutation_p.R491S|NOX5_ENST00000388866.3_Missense_Mutation_p.R537S|RP11-809H16.4_ENST00000559495.1_RNA			Q96PH1	NOX5_HUMAN	NADPH oxidase, EF-hand calcium binding domain 5	537	C-terminal catalytic region.|FAD-binding FR-type.				angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation	endoplasmic reticulum|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|NADP binding|superoxide-generating NADPH oxidase activity	p.R519S(1)		breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						GGCTGTCGAGGAGTGTGACAA	0.557000													24	271					0	0	1	0	0
DAGLA	747	broad.mit.edu	37	11	61504654	61504654	+	Splice_Site	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr11:61504654G>T	ENST00000257215.5	+	14	1488	c.1371_splice	c.e14-1	p.G458_splice		NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN	diacylglycerol lipase, alpha	458					cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity	p.G458C(1)		breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		CGGTCTCCAGGGCCGCGGAAC	0.637000													10	20					2.27111e-07	2.56357e-07	1	1	0
IGHV1-58	28464	broad.mit.edu	37	14	107078607	107078607	+	RNA	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr14:107078607G>T	ENST00000390628.2	-	0	177																											CCTTGCAGGAGACCTTCACTG	0.557000													63	49					1.63007e-36	2.6661e-36	1	1	0
MAP2K1	5604	broad.mit.edu	37	15	66727455	66727455	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr15:66727455G>T	ENST00000307102.5	+	2	702	c.171G>T	c.(169-171)aaG>aaT	p.K57N		NM_002755.3	NP_002746.1	Q02750	MP2K1_HUMAN	mitogen-activated protein kinase kinase 1	57					activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|Ras protein signal transduction|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|plasma membrane	ATP binding|MAP kinase kinase activity|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.K57N(3)		endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(8)|urinary_tract(1)	20						TTACCCAGAAGCAGAAGGTGG	0.542000													133	428					1.13329e-80	2.11925e-80	1	1	0
TDP2	51567	broad.mit.edu	37	6	24666767	24666767	+	Missense_Mutation	SNP	C	C	T	rs143844222	by1000genomes	TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr6:24666767C>T	ENST00000378198.4	-	2	408	c.238G>A	c.(238-240)Gag>Aag	p.E80K	TDP2_ENST00000545995.1_Missense_Mutation_p.E110K|TDP2_ENST00000341060.3_5'UTR			O95551	TYDP2_HUMAN	tyrosyl-DNA phosphodiesterase 2	80					cell surface receptor linked signaling pathway|double-strand break repair	PML body	5'-tyrosyl-DNA phosphodiesterase activity|magnesium ion binding|nuclease activity|protein binding|transcription corepressor activity	p.E80K(1)		kidney(2)|large_intestine(1)|lung(5)|ovary(1)	9						GTCTTGGGCTCAGAGATGGTT	0.602000								Direct reversal of damage					22	235					0	0	1	0	0
CUL9	23113	broad.mit.edu	37	6	43166498	43166498	+	Silent	SNP	C	C	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr6:43166498C>T	ENST00000252050.4	+	12	3039	c.2955C>T	c.(2953-2955)ctC>ctT	p.L985L	CUL9_ENST00000372647.2_Silent_p.L985L|CUL9_ENST00000354495.3_Silent_p.L875L	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	985					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding	p.L985L(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						GGCCCCTCCTCAAGCGCCTCC	0.642000													24	80					0	0	1	0	0
NXPE2	120406	broad.mit.edu	37	11	114568908	114568908	+	Missense_Mutation	SNP	G	G	C			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr11:114568908G>C	ENST00000375475.5	+	3	372	c.274G>C	c.(274-276)Gac>Cac	p.D92H	NXPE2_ENST00000389586.4_Missense_Mutation_p.D92H					neurexophilin and PC-esterase domain family, member 2									p.D92H(2)									GGAGAAACTAGACCAGCAGAT	0.458000													48	160					0	0	1	0	0
OR4C13	283092	broad.mit.edu	37	11	49974893	49974893	+	Missense_Mutation	SNP	A	A	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr11:49974893A>T	ENST00000555099.1	+	1	951	c.919A>T	c.(919-921)Agt>Tgt	p.S307C		NM_001001955.2	NP_001001955.2	Q8NGP0	OR4CD_HUMAN	olfactory receptor, family 4, subfamily C, member 13	307					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S307C(1)		autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	43						AGCTATTTCAAGTGTCAAATA	0.368000													12	52					0	0	1	0	0
MCOLN2	255231	broad.mit.edu	37	1	85418191	85418191	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr1:85418191C>A	ENST00000370608.3	-	5	655	c.588G>T	c.(586-588)caG>caT	p.Q196H	MCOLN2_ENST00000284027.5_Missense_Mutation_p.Q168H|MCOLN2_ENST00000531325.1_5'UTR	NM_153259.2	NP_694991.2	Q8IZK6	MCLN2_HUMAN	mucolipin 2	196						integral to membrane	ion channel activity	p.Q196H(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	18				all cancers(265;0.0111)|Epithelial(280;0.0263)|OV - Ovarian serous cystadenocarcinoma(397;0.217)		TGGAGAGGTCCTGAAGGTCTA	0.388000													59	35					3.41413e-29	5.1212e-29	1	1	0
HMCN1	83872	broad.mit.edu	37	1	186034405	186034405	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr1:186034405G>T	ENST00000271588.4	+	49	7778	c.7549G>T	c.(7549-7551)Ggg>Tgg	p.G2517W	HMCN1_ENST00000367492.2_Missense_Mutation_p.G2517W	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	2517	Ig-like C2-type 23.				response to stimulus|visual perception	basement membrane	calcium ion binding	p.G2517W(1)		NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GCACAAAGATGGGCAGCCCCT	0.403000													11	65					0.0242445	0.0245066	1	1	0
F13A1	2162	broad.mit.edu	37	6	6197479	6197479	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr6:6197479C>A	ENST00000264870.3	-	9	1458	c.1193G>T	c.(1192-1194)aGc>aTc	p.S398I		NM_000129.3	NP_000120.2	P00488	F13A_HUMAN	coagulation factor XIII, A1 polypeptide	398					peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	p.S398I(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	CTGGGGGGTGCTGTCCACAGC	0.478000													40	98					4.75955e-12	5.81722e-12	1	1	0
RBM42	79171	broad.mit.edu	37	19	36120510	36120510	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr19:36120510G>A	ENST00000262633.4	+	2	322	c.217G>A	c.(217-219)Gaa>Aaa	p.E73K	RBM42_ENST00000588161.1_Missense_Mutation_p.E73K|RBM42_ENST00000360475.4_Missense_Mutation_p.E73K|RBM42_ENST00000589559.1_Missense_Mutation_p.E73K|RBM42_ENST00000586618.1_Missense_Mutation_p.E73K|RBM42_ENST00000589871.1_Missense_Mutation_p.E73K|RBM42_ENST00000592202.1_Missense_Mutation_p.E73K	NM_024321.3	NP_077297.2	Q9BTD8	RBM42_HUMAN	RNA binding motif protein 42	73						cytoplasm|nucleus	nucleotide binding|RNA binding	p.E73K(1)		breast(1)|endometrium(3)|large_intestine(7)|lung(9)|prostate(1)	21	all_lung(56;1.58e-07)|Lung NSC(56;2.43e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			CCCCACAGTAGAAGCGATGCA	0.587000													7	89					0	0	1	0	0
SELPLG	6404	broad.mit.edu	37	12	109017819	109017819	+	Missense_Mutation	SNP	G	G	C			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr12:109017819G>C	ENST00000388962.3	-	2	424	c.265C>G	c.(265-267)Cgt>Ggt	p.R89G	SELPLG_ENST00000550948.1_Missense_Mutation_p.R89G|SELPLG_ENST00000228463.6_Missense_Mutation_p.R105G	NM_003006.4	NP_002997.2	Q14242	SELPL_HUMAN	selectin P ligand	89					blood coagulation|cellular response to interleukin-6	integral to plasma membrane|membrane fraction	bacterial cell surface binding|receptor binding	p.R89G(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|prostate(3)|skin(1)	12						CCAGTAGAACGCCTTGCAGCA	0.582000													20	48					0	0	1	0	0
PSMD8	5714	broad.mit.edu	37	19	38873891	38873891	+	Splice_Site	SNP	A	A	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr19:38873891A>T	ENST00000215071.4	+	7	981		c.e7-1		PSMD8_ENST00000602911.1_Splice_Site	NM_002812.4	NP_002803.2	P48556	PSMD8_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 8						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	cytoplasm|nucleus|proteasome regulatory particle	protein binding	p.?(2)		central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(1)	6	all_cancers(60;3.4e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			CCTTTCCTGCAGCGAGGGTGG	0.562000													7	11					0	0	1	0	0
IGKV1-27	28935	broad.mit.edu	37	2	89513089	89513089	+	RNA	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr2:89513089C>A	ENST00000498435.1	-	0	200																											CTGCTGATACCAGGCTAAATA	0.522000													59	148					9.453e-31	1.43328e-30	1	1	0
NR1H4	9971	broad.mit.edu	37	12	100926360	100926360	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr12:100926360G>A	ENST00000548884.1	+	5	1111	c.570G>A	c.(568-570)atG>atA	p.M190I	NR1H4_ENST00000188403.7_Missense_Mutation_p.M200I|NR1H4_ENST00000549996.1_Intron|NR1H4_ENST00000392986.3_Missense_Mutation_p.M190I|NR1H4_ENST00000551379.1_Missense_Mutation_p.M200I	NM_001206977.1|NM_001206979.1|NM_005123.3	NP_001193906.1|NP_001193908.1|NP_005114.1	Q96RI1	NR1H4_HUMAN	nuclear receptor subfamily 1, group H, member 4	200					bile acid metabolic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding	p.M190I(1)|p.M200I(1)		NS(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	44						GCAAAGAGATGGGAATGTTGG	0.403000													9	279					0	0	1	0	0
PI15	51050	broad.mit.edu	37	8	75737519	75737519	+	Missense_Mutation	SNP	T	T	C			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr8:75737519T>C	ENST00000260113.2	+	2	214	c.35T>C	c.(34-36)cTg>cCg	p.L12P	RP11-758M4.4_ENST00000518128.1_RNA|PI15_ENST00000523773.1_Missense_Mutation_p.L12P|RP11-758M4.4_ENST00000523860.1_RNA	NM_015886.3	NP_056970.1	O43692	PI15_HUMAN	peptidase inhibitor 15	12						extracellular region	peptidase inhibitor activity	p.L12P(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|skin(1)	30	Breast(64;0.137)		BRCA - Breast invasive adenocarcinoma(89;0.104)|Epithelial(68;0.118)			AGTGCACTCCTGTTCTCCCTT	0.468000													157	262					0	0	1	0	0
SPATA31E1	286234	broad.mit.edu	37	9	90501607	90501607	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr9:90501607G>T	ENST00000325643.5	+	4	2271	c.2205G>T	c.(2203-2205)gaG>gaT	p.E735D		NM_178828.4	NP_849150.3			SPATA31 subfamily E, member 1									p.E735D(1)									AAGACAAGGAGGCAGAAGGTG	0.547000													41	41					4.49093e-37	7.36671e-37	1	1	0
CAGE1	285782	broad.mit.edu	37	6	7355286	7355286	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr6:7355286G>T	ENST00000502583.1	-	11	2921	c.2357C>A	c.(2356-2358)tCc>tAc	p.S786Y	CAGE1_ENST00000338150.4_Missense_Mutation_p.S751Y|CAGE1_ENST00000379918.4_Missense_Mutation_p.S764Y|CAGE1_ENST00000296742.7_Missense_Mutation_p.S588Y|CAGE1_ENST00000512086.1_Missense_Mutation_p.S724Y	NM_001170692.1	NP_001164163.1	Q8TC20	CAGE1_HUMAN	cancer antigen 1	724								p.S751Y(1)|p.S786Y(1)|p.S588Y(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|lung(11)|urinary_tract(1)	19	Ovarian(93;0.0418)					TGCAATCTGGGAGTGGGATAT	0.308000													47	57					2.92391e-54	5.17448e-54	1	1	0
SLC32A1	140679	broad.mit.edu	37	20	37357011	37357011	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr20:37357011G>T	ENST00000217420.1	+	2	1570	c.1307G>T	c.(1306-1308)cGc>cTc	p.R436L		NM_080552.2	NP_542119.1	Q9H598	VIAAT_HUMAN	solute carrier family 32 (GABA vesicular transporter), member 1	436					neurotransmitter secretion	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane	vesicular hydrogen:amino acid antiporter activity	p.R436L(1)		breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|urinary_tract(1)	38		Myeloproliferative disorder(115;0.00878)			Glycine(DB00145)	CTGACGCTGCGCTGCGCGCTC	0.677000													3	3					0.014758	0.0149715	1	1	0
DISP1	84976	broad.mit.edu	37	1	223177398	223177398	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr1:223177398G>A	ENST00000284476.6	+	8	2823	c.2659G>A	c.(2659-2661)Gaa>Aaa	p.E887K		NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	887					diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity	p.E887K(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		AGAGATTTTTGAACTGTGCAT	0.478000													12	50					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7578177	7578177	+	Splice_Site	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr17:7578177C>A	ENST00000420246.2	-	6	804	c.672_splice	c.e6+1	p.E224_splice	TP53_ENST00000574684.1_Intron|TP53_ENST00000269305.4_Splice_Site_p.E224_splice|TP53_ENST00000445888.2_Splice_Site_p.E224_splice|TP53_ENST00000455263.2_Splice_Site_p.E224_splice|TP53_ENST00000359597.4_Splice_Site_p.E224_splice|TP53_ENST00000413465.2_Splice_Site_p.E224_splice	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	224	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> V (in a sporadic cancer; 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.E224D(20)|p.?(13)|p.E224E(12)|p.0?(8)|p.E131D(3)|p.E131E(2)|p.V218_E224delVPYEPPE(1)|p.V225fs*24(1)|p.E224_V225insXX(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)		CAAACCAGACCTCAGGCGGCT	0.532000		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)			31	31					6.29468e-14	7.90004e-14	1	1	0
KCTD3	51133	broad.mit.edu	37	1	215792515	215792515	+	Nonsense_Mutation	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr1:215792515G>T	ENST00000259154.4	+	17	2062	c.1768G>T	c.(1768-1770)Gaa>Taa	p.E590*	KCTD3_ENST00000495537.1_3'UTR	NM_016121.3	NP_057205.2	Q9Y597	KCTD3_HUMAN	potassium channel tetramerization domain containing 3	590						voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity	p.E590*(1)		breast(4)|endometrium(2)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)	33				all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13)		TCCAACCGAAGAAGAGCTACT	0.403000													51	157					2.5401e-28	3.79998e-28	1	1	0
ZNF35	7584	broad.mit.edu	37	3	44700712	44700712	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr3:44700712C>A	ENST00000396056.2	+	4	1092	c.857C>A	c.(856-858)gCc>gAc	p.A286D	ZNF35_ENST00000296092.3_3'UTR|ZNF35_ENST00000542250.1_Missense_Mutation_p.A126D|RP11-944L7.4_ENST00000457331.1_RNA	NM_003420.3	NP_003411.3	P13682	ZNF35_HUMAN	zinc finger protein 35	286					cellular response to retinoic acid|spermatogenesis	nucleus|perinuclear region of cytoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.A286E(1)		large_intestine(3)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	12		Ovarian(412;0.0228)		OV - Ovarian serous cystadenocarcinoma(275;2.49e-27)|KIRC - Kidney renal clear cell carcinoma(197;0.0475)|Kidney(197;0.0595)		TGTGGGAAAGCCTTCACTCAG	0.408000													43	26					7.05377e-20	9.65162e-20	1	1	0
PDCD11	22984	broad.mit.edu	37	10	105198552	105198552	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr10:105198552G>T	ENST00000369797.3	+	27	4106	c.4012G>T	c.(4012-4014)Ggt>Tgt	p.G1338C		NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11	1338	S1 motif 12.				mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding	p.G1338C(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		CCAGCCACACGGTGTGTTCTT	0.552000													13	47					1.3612e-06	1.51816e-06	1	1	0
GZF1	64412	broad.mit.edu	37	20	23345114	23345114	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr20:23345114G>A	ENST00000338121.5	+	2	171	c.94G>A	c.(94-96)Gac>Aac	p.D32N	GZF1_ENST00000377051.2_Missense_Mutation_p.D32N|GZF1_ENST00000544236.1_Intron|GZF1_ENST00000542987.1_Intron			Q9H116	GZF1_HUMAN	GDNF-inducible zinc finger protein 1	32	BTB.				transcription, DNA-dependent	nucleolus|nucleoplasm	sequence-specific DNA binding|zinc ion binding	p.D32N(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|urinary_tract(2)	24	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)					TCACCTGTGTGACGTGACAGT	0.517000													4	39					0	0	1	0	0
MAP3K15	389840	broad.mit.edu	37	X	19443781	19443781	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chrX:19443781C>T	ENST00000338883.4	-	9	1306	c.1307G>A	c.(1306-1308)aGa>aAa	p.R436K	MAP3K15_ENST00000359173.3_5'UTR|MAP3K15_ENST00000518578.1_5'UTR|MAP3K15_ENST00000469203.2_Missense_Mutation_p.R268K	NM_001001671.3	NP_001001671.3	Q6ZN16	M3K15_HUMAN	mitogen-activated protein kinase kinase kinase 15	436							ATP binding|MAP kinase kinase kinase activity|metal ion binding	p.R483K(1)|p.R483T(1)		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)					GCTCCCTTTTCTTCCCAACAA	0.433000													4	66					0	0	1	0	0
AFAP1L2	84632	broad.mit.edu	37	10	116100464	116100464	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr10:116100464C>T	ENST00000369271.3	-	2	343	c.43G>A	c.(43-45)Gat>Aat	p.D15N	AFAP1L2_ENST00000304129.4_Missense_Mutation_p.D15N|AFAP1L2_ENST00000545353.1_Missense_Mutation_p.D15N	NM_001001936.1|NM_032550.2	NP_001001936.1|NP_115939.1	Q8N4X5	AF1L2_HUMAN	actin filament associated protein 1-like 2	15					inflammatory response|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of transcription, DNA-dependent|regulation of interleukin-6 production|regulation of mitotic cell cycle	cytoplasm	protein tyrosine kinase activator activity|SH2 domain binding|SH3 domain binding	p.D33N(1)|p.D15N(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|prostate(2)	21		Colorectal(252;0.175)|Breast(234;0.231)		Epithelial(162;0.0219)|all cancers(201;0.0561)		AGGAAGTCATCCAACTCTGTC	0.547000													5	60					0	0	1	0	0
KIR3DL2	3812	broad.mit.edu	37	19	55378056	55378056	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr19:55378056G>T	ENST00000326321.3	+	9	1271	c.1238G>T	c.(1237-1239)cGc>cTc	p.R413L	KIR3DL2_ENST00000270442.5_Missense_Mutation_p.R396L|KIR3DL1_ENST00000402254.2_Missense_Mutation_p.R413L	NM_006737.3	NP_006728.2	P43630	KI3L2_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 2	413					cellular defense response|regulation of immune response	integral to plasma membrane	receptor activity	p.R413L(2)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	23				GBM - Glioblastoma multiforme(193;0.0192)		AAAATCAGTCGCCCTTCTCAG	0.517000													396	614					7.70712e-192	1.51178e-191	1	1	0
HTRA2	27429	broad.mit.edu	37	2	74759976	74759976	+	Nonsense_Mutation	SNP	T	T	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr2:74759976T>A	ENST00000258080.3	+	8	1871	c.1241T>A	c.(1240-1242)tTg>tAg	p.L414*	LOXL3_ENST00000264094.3_3'UTR|LOXL3_ENST00000409249.1_3'UTR|HTRA2_ENST00000467961.1_3'UTR|HTRA2_ENST00000352222.3_Nonsense_Mutation_p.L317*	NM_013247.4	NP_037379.1	O43464	HTRA2_HUMAN	HtrA serine peptidase 2	414	PDZ.				apoptosis|proteolysis|response to stress	CD40 receptor complex|endoplasmic reticulum membrane|internal side of plasma membrane|mitochondrial intermembrane space|mitochondrial membrane|nucleus	serine-type endopeptidase activity|unfolded protein binding	p.L414*(1)		endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	12						GATGTGATTTTGGCCATTGGG	0.498000													101	156					0	0	1	0	0
SCRN2	90507	broad.mit.edu	37	17	45915657	45915657	+	Silent	SNP	C	C	T	rs147761976	byFrequency	TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr17:45915657C>T	ENST00000407215.3	-	7	1179	c.1098G>A	c.(1096-1098)ctG>ctA	p.L366L	SCRN2_ENST00000584123.1_Silent_p.L374L|SCRN2_ENST00000290216.9_Silent_p.L366L			Q96FV2	SCRN2_HUMAN	secernin 2	366					proteolysis		dipeptidase activity	p.L366L(1)		cervix(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	14						CCATCAGCCCCAGGGCTGCCT	0.592000													3	29					0	0	1	0	0
OR52E4	390081	broad.mit.edu	37	11	5905527	5905527	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr11:5905527C>A	ENST00000316987.2	+	1	27	c.5C>A	c.(4-6)cCt>cAt	p.P2H		NM_001005165.1	NP_001005165.1	Q8NGH9	O52E4_HUMAN	olfactory receptor, family 52, subfamily E, member 4	2					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P2H(1)		autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(2)|prostate(1)|skin(2)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGGAGAATGCCTTCTATCAAT	0.423000													58	194					4.66136e-34	7.42905e-34	1	1	0
ZNF526	116115	broad.mit.edu	37	19	42729117	42729117	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr19:42729117C>T	ENST00000301215.3	+	3	787	c.562C>T	c.(562-564)Ccc>Tcc	p.P188S		NM_133444.1	NP_597701.1	Q8TF50	ZN526_HUMAN	zinc finger protein 526	188					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.P188S(1)		autonomic_ganglia(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(3)	22		Prostate(69;0.0704)				TCCACCTTCTCCCCCATCCGA	0.597000													63	96					0	0	1	0	0
CADM3	57863	broad.mit.edu	37	1	159163301	159163301	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr1:159163301C>A	ENST00000368125.4	+	4	628	c.471C>A	c.(469-471)agC>agA	p.S157R	CADM3_ENST00000368124.4_Missense_Mutation_p.S191R	NM_001127173.1	NP_001120645.1	Q8N126	CADM3_HUMAN	cell adhesion molecule 3	157	Ig-like C2-type 1.				adherens junction organization|cell junction assembly|heterophilic cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	protein homodimerization activity	p.S191R(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(20)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55	all_hematologic(112;0.0429)					CTTCTGGGAGCAAGCCTGCAG	0.512000													26	37					4.4194e-11	5.30896e-11	1	1	0
GNPTAB	79158	broad.mit.edu	37	12	102183810	102183810	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr12:102183810C>T	ENST00000299314.7	-	3	491	c.229G>A	c.(229-231)Gtt>Att	p.V77I	GNPTAB_ENST00000549940.1_Missense_Mutation_p.V77I	NM_024312.4	NP_077288.2	Q3T906	GNPTA_HUMAN	N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits	77					cell differentiation	Golgi membrane|integral to membrane|nucleus	metal ion binding|transcription factor binding|UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity	p.V77I(2)		NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	37						GTGTAAACAACGTCAATCGGC	0.428000													178	386					0	0	1	0	0
MS4A10	341116	broad.mit.edu	37	11	60558557	60558557	+	Silent	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr11:60558557G>T	ENST00000308287.1	+	3	390	c.294G>T	c.(292-294)ggG>ggT	p.G98G		NM_206893.3	NP_996776.2	Q96PG2	M4A10_HUMAN	membrane-spanning 4-domains, subfamily A, member 10	98						integral to membrane	receptor activity	p.G98G(1)		endometrium(1)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|skin(2)	21						CATTCTGGGGGGCTGCCTCTG	0.582000													31	56					1.68508e-10	1.99859e-10	1	1	0
MMP1	4312	broad.mit.edu	37	11	102666324	102666324	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr11:102666324G>T	ENST00000315274.6	-	5	707	c.640C>A	c.(640-642)Cgt>Agt	p.R214S	WTAPP1_ENST00000525739.2_RNA	NM_001145938.1|NM_002421.3	NP_001139410.1|NP_002412.1	P03956	MMP1_HUMAN	matrix metallopeptidase 1 (interstitial collagenase)	214	Metalloprotease.				blood coagulation|collagen catabolic process|interspecies interaction between organisms|leukocyte migration|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	p.R214S(1)		breast(2)|endometrium(1)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	30	all_epithelial(12;0.0127)	all_neural(303;0.000318)|all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.072)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.233)	OV - Ovarian serous cystadenocarcinoma(223;1.82e-07)|Epithelial(105;1.51e-06)|BRCA - Breast invasive adenocarcinoma(274;0.014)		GCTGCAACACGATGTAAGTTG	0.368000													11	45					6.31663e-08	7.18789e-08	1	1	0
CREG2	200407	broad.mit.edu	37	2	101967438	101967438	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr2:101967438C>A	ENST00000324768.4	-	4	957	c.820G>T	c.(820-822)Gca>Tca	p.A274S		NM_153836.3	NP_722578.1	Q8IUH2	CREG2_HUMAN	cellular repressor of E1A-stimulated genes 2	274						extracellular region	FMN binding	p.A274S(1)		endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	10						ATACTGGATGCGCCTCCATAC	0.443000													41	83					1.06522e-23	1.53228e-23	1	1	0
PANX1	24145	broad.mit.edu	37	11	93862607	93862607	+	Silent	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr11:93862607G>T	ENST00000227638.3	+	1	514	c.129G>T	c.(127-129)gtG>gtT	p.V43V	PANX1_ENST00000436171.2_Silent_p.V43V	NM_015368.3	NP_056183.2	Q96RD7	PANX1_HUMAN	pannexin 1	43					positive regulation of interleukin-1 beta secretion|protein hexamerization|synaptic transmission	bleb|endoplasmic reticulum membrane|gap junction|integral to membrane	calcium channel activity|gap junction hemi-channel activity|leak channel activity|receptor binding	p.V43V(1)		endometrium(2)|large_intestine(2)|lung(13)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				GCATTGCGGTGGGGCTGCCCC	0.647000													5	13					0.00621372	0.00640789	1	1	0
MSRB3	253827	broad.mit.edu	37	12	65857034	65857034	+	Missense_Mutation	SNP	A	A	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr12:65857034A>T	ENST00000308259.5	+	7	764	c.490A>T	c.(490-492)Agc>Tgc	p.S164C	MSRB3_ENST00000355192.3_Missense_Mutation_p.S171C|MSRB3_ENST00000535664.1_Missense_Mutation_p.S164C	NM_001031679.2|NM_001193460.1	NP_001026849.1|NP_001180389.1	Q8IXL7	MSRB3_HUMAN	methionine sulfoxide reductase B3	171					protein repair	endoplasmic reticulum|mitochondrion	peptide-methionine-(S)-S-oxide reductase activity|protein-methionine-R-oxide reductase activity|zinc ion binding	p.S164C(1)|p.S171C(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)	13			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.131)		ACCTGCGGATAGCAGTGGCAC	0.547000													29	60					0	0	1	0	0
FAM214A	56204	broad.mit.edu	37	15	52902041	52902041	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr15:52902041C>A	ENST00000261844.7	-	6	1222	c.1070G>T	c.(1069-1071)gGt>gTt	p.G357V	FAM214A_ENST00000546305.2_Missense_Mutation_p.G364V	NM_019600.2	NP_062546.2	Q32MH5	K1370_HUMAN	family with sequence similarity 214, member A	357								p.G357V(1)									GTTAGTCTCACCAGCTGACTG	0.388000													11	15					1.3612e-06	1.51816e-06	1	1	0
XYLT1	64131	broad.mit.edu	37	16	17221699	17221699	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr16:17221699G>T	ENST00000261381.6	-	10	2131	c.2047C>A	c.(2047-2049)Cca>Aca	p.P683T		NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	683					glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity	p.P683T(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						ACAGATGCTGGGTGGCCCATT	0.527000													82	81					1.63847e-34	2.62623e-34	1	1	0
PCDHB6	56130	broad.mit.edu	37	5	140531538	140531538	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr5:140531538C>A	ENST00000231136.1	+	1	1700	c.1700C>A	c.(1699-1701)tCc>tAc	p.S567Y	PCDHB6_ENST00000543635.1_Missense_Mutation_p.S431Y	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN		567	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	p.S567Y(1)		cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CAGAACGGCTCCGCGCCCTGC	0.721000													4	6					0.000602214	0.000629129	1	1	0
XIRP2	129446	broad.mit.edu	37	2	168101224	168101224	+	Nonsense_Mutation	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr2:168101224G>T	ENST00000409195.1	+	9	3411	c.3322G>T	c.(3322-3324)Gaa>Taa	p.E1108*	XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000295237.9_Nonsense_Mutation_p.E1108*|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409273.1_Nonsense_Mutation_p.E886*	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	933					actin cytoskeleton organization	cell junction	actin binding	p.E1108*(1)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GTCTCTTTATGAAAAAGTTTC	0.363000													16	39					4.63292e-17	6.07259e-17	1	1	0
IL12A-AS1	101928376	broad.mit.edu	37	3	159818741	159818741	+	RNA	SNP	C	C	G	rs111620918	by1000genomes	TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr3:159818741C>G	ENST00000497452.1	-	0	517																											AACGAAGTCACCGAACTCTCC	0.493000													3	14					0	0	1	0	0
GLI3	2737	broad.mit.edu	37	7	42063147	42063147	+	Nonsense_Mutation	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr7:42063147C>A	ENST00000395925.3	-	10	1501	c.1417G>T	c.(1417-1419)Gag>Tag	p.E473*	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	473					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	p.E473*(1)		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						ACTTCAGGCTCCTGTTTGCTT	0.547000									Pallister-Hall syndrome;Greig Cephalopolysyndactyly				41	51					6.17242e-35	9.95036e-35	1	1	0
KIAA1429	25962	broad.mit.edu	37	8	95522735	95522735	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr8:95522735C>A	ENST00000297591.5	-	14	3611	c.3536G>T	c.(3535-3537)cGt>cTt	p.R1179L	KIAA1429_ENST00000523405.1_Intron|KIAA1429_ENST00000437199.1_Missense_Mutation_p.R1179L	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	1179					mRNA processing|RNA splicing	nucleus		p.R1179L(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			AACACAAATACGCCGTAACAT	0.423000													73	133					1.32003e-40	2.21057e-40	1	1	0
GTF2H1	2965	broad.mit.edu	37	11	18380137	18380137	+	Nonsense_Mutation	SNP	C	C	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr11:18380137C>T	ENST00000265963.4	+	13	1577	c.1417C>T	c.(1417-1419)Cga>Tga	p.R473*	GTF2H1_ENST00000526630.2_Nonsense_Mutation_p.R63*|GTF2H1_ENST00000534641.1_Nonsense_Mutation_p.R357*|GTF2H1_ENST00000530496.2_Nonsense_Mutation_p.R161*|GTF2H1_ENST00000453096.2_Nonsense_Mutation_p.R473*	NM_005316.3	NP_005307.1	P32780	TF2H1_HUMAN	general transcription factor IIH, polypeptide 1, 62kDa	473					mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|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|viral reproduction	holo TFIIH complex	protein binding	p.R473*(1)		endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	20						AGAACTTCTACGACATTTCTG	0.398000								Nucleotide excision repair (NER)					45	140					0	0	1	0	0
CKAP4	10970	broad.mit.edu	37	12	106633077	106633077	+	Missense_Mutation	SNP	T	T	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr12:106633077T>A	ENST00000378026.4	-	2	1670	c.1534A>T	c.(1534-1536)Acg>Tcg	p.T512S		NM_006825.3	NP_006816.2	Q07065	CKAP4_HUMAN	cytoskeleton-associated protein 4	512						ER-Golgi intermediate compartment membrane|integral to membrane|membrane fraction		p.T512S(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|pancreas(1)|urinary_tract(1)	20						CTGAGCAGCGTGTGCACCTGC	0.607000													19	27					0	0	1	0	0
ZNF254	9534	broad.mit.edu	37	19	24309689	24309689	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr19:24309689G>T	ENST00000357002.4	+	4	1002	c.887G>T	c.(886-888)tGt>tTt	p.C296F	ZNF254_ENST00000342944.6_Missense_Mutation_p.C211F	NM_001278661.1|NM_001278662.1|NM_001278664.1|NM_001278677.1|NM_001278678.1|NM_203282.2	NP_001265590.1|NP_001265591.1|NP_001265593.1|NP_001265606.1|NP_001265607.1|NP_975011.3	O75437	ZN254_HUMAN	zinc finger protein 254	296					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.C296F(1)					all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)				CCTTACAAGTGTGAAGAATGT	0.363000													37	86					5.20006e-24	7.49932e-24	1	1	0
SLC24A4	123041	broad.mit.edu	37	14	92959901	92959901	+	Missense_Mutation	SNP	T	T	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr14:92959901T>A	ENST00000532405.1	+	17	2024	c.1798T>A	c.(1798-1800)Tgc>Agc	p.C600S	SLC24A4_ENST00000531433.1_Missense_Mutation_p.C581S|SLC24A4_ENST00000393265.2_Missense_Mutation_p.C536S|SLC24A4_ENST00000351924.5_Missense_Mutation_p.C564S|SLC24A4_ENST00000298877.1_Missense_Mutation_p.C583S			Q8NFF2	NCKX4_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 4	600						integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity	p.C583S(1)		breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(20)|ovary(2)|skin(1)	36		all_cancers(154;0.0347)|all_epithelial(191;0.163)		Colorectal(1;0.00242)|COAD - Colon adenocarcinoma(157;0.047)|Epithelial(152;0.0781)|READ - Rectum adenocarcinoma(1;0.176)|all cancers(159;0.182)		CATCTTCTTGTGCTTCTCCAT	0.552000													12	34					0	0	1	0	0
GRIN2A	2903	broad.mit.edu	37	16	9943739	9943739	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr16:9943739G>T	ENST00000396573.2	-	6	1511	c.1202C>A	c.(1201-1203)cCg>cAg	p.P401Q	GRIN2A_ENST00000562109.1_Missense_Mutation_p.P401Q|GRIN2A_ENST00000404927.2_Missense_Mutation_p.P401Q|GRIN2A_ENST00000330684.3_Missense_Mutation_p.P401Q|GRIN2A_ENST00000535259.1_Missense_Mutation_p.P244Q|GRIN2A_ENST00000396575.2_Missense_Mutation_p.P401Q	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	401					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	p.P401Q(1)		NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GTTGTCATCCGGCTCACAGTC	0.587000													73	154					2.9056e-39	4.83692e-39	1	1	0
ARRDC4	91947	broad.mit.edu	37	15	98512352	98512352	+	Splice_Site	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr15:98512352G>T	ENST00000268042.6	+	5	789		c.e5-1		ARRDC4_ENST00000538249.1_Splice_Site	NM_183376.2	NP_899232.2	Q8NCT1	ARRD4_HUMAN	arrestin domain containing 4						signal transduction			p.?(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|skin(3)	16	Melanoma(26;0.00539)|Lung NSC(78;0.0125)|all_lung(78;0.0222)		OV - Ovarian serous cystadenocarcinoma(32;0.0417)			TTTCTTTTTAGGAGAAGCTAT	0.393000													9	18					5.50884e-06	6.01256e-06	1	1	0
OR4C13	283092	broad.mit.edu	37	11	49974394	49974394	+	Silent	SNP	C	C	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr11:49974394C>T	ENST00000555099.1	+	1	452	c.420C>T	c.(418-420)agC>agT	p.S140S		NM_001001955.2	NP_001001955.2	Q8NGP0	OR4CD_HUMAN	olfactory receptor, family 4, subfamily C, member 13	140					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S140S(1)		autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	43						ATGTTTGTAGCCTGCTAGTGG	0.468000													136	144					0	0	1	0	0
ATXN2L	11273	broad.mit.edu	37	16	28844674	28844674	+	Splice_Site	SNP	G	G	C			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr16:28844674G>C	ENST00000336783.4	+	14	2121	c.1955_splice	c.e14+1	p.E652_splice	ATXN2L_ENST00000565845.1_3'UTR|ATXN2L_ENST00000564304.1_Splice_Site_p.E658_splice|ATXN2L_ENST00000325215.6_Splice_Site_p.E652_splice|ATXN2L_ENST00000395547.2_Splice_Site_p.E652_splice|ATXN2L_ENST00000382686.4_Splice_Site_p.E652_splice|ATXN2L_ENST00000340394.8_Splice_Site_p.E652_splice|RP11-24N18.1_ENST00000563565.1_RNA|ATXN2L_ENST00000570200.1_Splice_Site_p.E652_splice	NM_007245.3	NP_009176.2	Q8WWM7	ATX2L_HUMAN	ataxin 2-like	652						membrane		p.E652Q(2)		breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						CCCTGTTGCTGAGTGAGTGGA	0.577000													12	19					0	0	1	0	0
ARHGAP10	79658	broad.mit.edu	37	4	148876486	148876486	+	Missense_Mutation	SNP	A	A	G			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr4:148876486A>G	ENST00000336498.3	+	16	1650	c.1411A>G	c.(1411-1413)Atg>Gtg	p.M471V	ARHGAP10_ENST00000414545.2_Missense_Mutation_p.M120V	NM_024605.3	NP_078881.3	A1A4S6	RHG10_HUMAN	Rho GTPase activating protein 10	471	Rho-GAP.				apoptosis|filopodium assembly|regulation of apoptosis|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm|plasma membrane	cytoskeletal adaptor activity|SH3 domain binding	p.M471V(1)		autonomic_ganglia(2)|endometrium(5)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33	all_hematologic(180;0.151)	Renal(17;0.0166)		GBM - Glioblastoma multiforme(119;0.0423)		AGAGCCTCTCATGACCTATGA	0.348000													71	256					0	0	1	0	0
WDR16	146845	broad.mit.edu	37	17	9546400	9546400	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr17:9546400G>A	ENST00000352665.5	+	14	1817	c.1748G>A	c.(1747-1749)gGg>gAg	p.G583E	RP11-55L4.2_ENST00000584676.1_RNA|WDR16_ENST00000299764.5_Missense_Mutation_p.G593E|WDR16_ENST00000396219.3_Missense_Mutation_p.G515E	NM_145054.4	NP_659491.4	Q8N1V2	WDR16_HUMAN	WD repeat domain 16	583						cytoplasm|intracellular membrane-bounded organelle	protein binding	p.G583E(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31						ACTCACGTTGGGGTGGGACAC	0.443000													5	57					0	0	1	0	0
GRIA1	2890	broad.mit.edu	37	5	153030061	153030061	+	Missense_Mutation	SNP	C	C	G			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr5:153030061C>G	ENST00000285900.5	+	4	975	c.632C>G	c.(631-633)gCt>gGt	p.A211G	GRIA1_ENST00000518783.1_Missense_Mutation_p.A221G|GRIA1_ENST00000340592.5_Missense_Mutation_p.A211G|GRIA1_ENST00000521843.2_Missense_Mutation_p.A142G|GRIA1_ENST00000448073.4_Missense_Mutation_p.A221G|GRIA1_ENST00000518862.1_3'UTR|GRIA1_ENST00000518142.1_Missense_Mutation_p.A131G	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	211					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding	p.A211G(2)		NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	CGCCTCAATGCTATCTTGGGC	0.527000													48	56					0	0	1	0	0
ADD3	120	broad.mit.edu	37	10	111872586	111872586	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr10:111872586C>T	ENST00000277900.8	+	3	612	c.247C>T	c.(247-249)Cac>Tac	p.H83Y	ADD3_ENST00000497125.1_3'UTR|ADD3_ENST00000356080.4_Missense_Mutation_p.H83Y|ADD3_ENST00000360162.3_Missense_Mutation_p.H83Y	NM_001121.2	NP_001112.2	Q9UEY8	ADDG_HUMAN	adducin 3 (gamma)	83						cytoskeleton	actin binding|calmodulin binding|metal ion binding|structural constituent of cytoskeleton	p.H83Y(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	29		Breast(234;0.052)|Lung NSC(174;0.223)		Epithelial(162;4.15e-05)|all cancers(201;0.000587)|BRCA - Breast invasive adenocarcinoma(275;0.0742)		GAAGAAAGGCCACAACCCAAC	0.418000													70	69					0	0	1	0	0
TREML2	79865	broad.mit.edu	37	6	41162245	41162245	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr6:41162245G>A	ENST00000483722.1	-	3	888	c.703C>T	c.(703-705)Ctc>Ttc	p.L235F		NM_024807.2	NP_079083.2	Q5T2D2	TRML2_HUMAN	triggering receptor expressed on myeloid cells-like 2	235					T cell activation	cell surface|integral to membrane|plasma membrane	protein binding|receptor activity	p.L294F(1)		breast(1)|central_nervous_system(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)	18	Ovarian(28;0.0418)|Colorectal(47;0.196)					CTGGTGCTGAGGTCCCCAGAC	0.622000													8	9					0	0	1	0	0
F2	2147	broad.mit.edu	37	11	46760614	46760614	+	Silent	SNP	A	A	G			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr11:46760614A>G	ENST00000311907.5	+	13	1727	c.1671A>G	c.(1669-1671)gaA>gaG	p.E557E	F2_ENST00000530231.1_Silent_p.E518E	NM_000506.3	NP_000497.1	P00734	THRB_HUMAN	coagulation factor II (thrombin)	557	High affinity receptor-binding region which is also known as the TP508 peptide.|Peptidase S1.				activation of caspase activity|acute-phase response|blood coagulation, intrinsic pathway|cell surface receptor linked signaling pathway|cytosolic calcium ion homeostasis|fibrinolysis|leukocyte migration|negative regulation of astrocyte differentiation|negative regulation of fibrinolysis|negative regulation of platelet activation|negative regulation of proteolysis|peptidyl-glutamic acid carboxylation|platelet activation|positive regulation of collagen biosynthetic process|positive regulation of protein phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of release of sequestered calcium ion into cytosol|post-translational protein modification|proteolysis|STAT protein import into nucleus|tyrosine phosphorylation of STAT protein	cytosol|endoplasmic reticulum lumen|extracellular space|Golgi lumen|plasma membrane|soluble fraction	calcium ion binding|growth factor activity|serine-type endopeptidase activity|thrombospondin receptor activity	p.E557E(1)		endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	27		all_lung(304;0.000414)|Lung NSC(402;0.0011)		BRCA - Breast invasive adenocarcinoma(625;0.146)	Antihemophilic Factor(DB00025)|Argatroban(DB00278)|Bivalirudin(DB00006)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)|Enoxaparin(DB01225)|Heparin(DB01109)|Lepirudin(DB00001)|Menadione(DB00170)|Proflavine(DB01123)|Simvastatin(DB00641)|Suramin(DB04786)|Warfarin(DB00682)|Ximelagatran(DB04898)	AGCCTGATGAAGGGAAACGAG	0.552000													6	148					0	0	1	0	0
NR1H2	7376	broad.mit.edu	37	19	50885781	50885781	+	Silent	SNP	G	G	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr19:50885781G>A	ENST00000542413.1	+	14	1925	c.498G>A	c.(496-498)tcG>tcA	p.S166S	NR1H2_ENST00000599105.1_Silent_p.S391S|NR1H2_ENST00000253727.5_Silent_p.S435S|NR1H2_ENST00000598168.1_Silent_p.S405S|NR1H2_ENST00000411902.2_Silent_p.S338S|NR1H2_ENST00000593926.1_Silent_p.S435S			P55055	NR1H2_HUMAN	nuclear receptor subfamily 1, group H, member 2	435					negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of lipid transport|negative regulation of pinocytosis|negative regulation of transcription, DNA-dependent|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of triglyceride biosynthetic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding	p.S435S(1)		endometrium(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(2)	8		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186)		CTGTGCACTCGGAGCAGGTCT	0.672000													3	5					0	0	1	0	0
PIEZO2	63895	broad.mit.edu	37	18	10671622	10671622	+	Nonsense_Mutation	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr18:10671622C>A	ENST00000302079.6	-	51	7971	c.7972G>T	c.(7972-7974)Gga>Tga	p.G2658*	PIEZO2_ENST00000538948.1_Nonsense_Mutation_p.G678*|PIEZO2_ENST00000285141.4_Nonsense_Mutation_p.G513*|PIEZO2_ENST00000580640.1_Nonsense_Mutation_p.G2746*|PIEZO2_ENST00000503781.3_Nonsense_Mutation_p.G2721*			Q9H5I5	PIEZ2_HUMAN	piezo-type mechanosensitive ion channel component 2	2721						integral to membrane	ion channel activity	p.G2721*(1)|p.G513*(1)									TCCAGTTCTCCTGTCTCTCGA	0.363000													19	51					7.41877e-09	8.5813e-09	1	1	0
SLC12A1	6557	broad.mit.edu	37	15	48500154	48500154	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr15:48500154G>T	ENST00000396577.3	+	2	453	c.238G>T	c.(238-240)Gct>Tct	p.A80S	SLC12A1_ENST00000561031.1_Missense_Mutation_p.A80S|SLC12A1_ENST00000380993.3_Missense_Mutation_p.A80S|SLC12A1_ENST00000330289.6_Missense_Mutation_p.A80S|SLC12A1_ENST00000558405.1_Missense_Mutation_p.A80S	NM_001184832.1	NP_001171761.1	Q13621	S12A1_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 1	80					potassium ion transport|sodium ion transport	integral to membrane|membrane fraction	sodium:potassium:chloride symporter activity	p.A80S(2)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1)	59		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021)	TGGAGAAACTGCTAAAACAGA	0.428000													21	57					3.7963e-18	5.03482e-18	1	1	0
DLEC1	9940	broad.mit.edu	37	3	38104226	38104226	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr3:38104226C>T	ENST00000308059.6	+	5	1049	c.1028C>T	c.(1027-1029)tCt>tTt	p.S343F	DLEC1_ENST00000452631.2_Missense_Mutation_p.S343F|DLEC1_ENST00000346219.3_Missense_Mutation_p.S343F			Q9Y238	DLEC1_HUMAN	deleted in lung and esophageal cancer 1	343					negative regulation of cell proliferation	cytoplasm		p.S343F(2)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		GGAGGCAAGTCTCTTGTTTTT	0.458000													18	12					0	0	1	0	0
ZNF585B	92285	broad.mit.edu	37	19	37676497	37676497	+	Missense_Mutation	SNP	T	T	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr19:37676497T>A	ENST00000532828.2	-	5	2193	c.1942A>T	c.(1942-1944)Aat>Tat	p.N648Y	ZNF585B_ENST00000527838.1_3'UTR|ZNF585B_ENST00000312908.5_Missense_Mutation_p.N236Y|ZNF585B_ENST00000531805.1_Missense_Mutation_p.N593Y|CTC-454I21.3_ENST00000585860.2_Intron	NM_152279.3	NP_689492.3	Q52M93	Z585B_HUMAN	zinc finger protein 585B	648					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	p.N648Y(1)		NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TTACTGAGATTTGACCTGCCA	0.473000													18	25					0	0	1	0	0
COQ4	51117	broad.mit.edu	37	9	131087468	131087468	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr9:131087468G>T	ENST00000300452.3	+	3	572	c.249G>T	c.(247-249)aaG>aaT	p.K83N	COQ4_ENST00000372875.3_Missense_Mutation_p.K83N	NM_016035.3	NP_057119.2	Q9Y3A0	COQ4_HUMAN	coenzyme Q4	83					ubiquinone biosynthetic process	mitochondrial inner membrane		p.K83N(1)		endometrium(4)|large_intestine(1)|lung(4)	9						GCACCCTGAAGGTCCTCAGGG	0.567000													17	26					6.94344e-10	8.16619e-10	1	1	0
KCNK9	51305	broad.mit.edu	37	8	140631035	140631035	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr8:140631035C>A	ENST00000520439.1	-	2	654	c.591G>T	c.(589-591)ttG>ttT	p.L197F	KCNK9_ENST00000303015.1_Missense_Mutation_p.L197F			Q9NPC2	KCNK9_HUMAN	potassium channel, subfamily K, member 9	197						integral to membrane|membrane fraction	potassium channel activity|voltage-gated ion channel activity	p.L197F(1)		NS(1)|endometrium(9)|kidney(1)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)	43	all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;0.134)	BRCA - Breast invasive adenocarcinoma(115;0.0855)			CAATGGTAGTCAACGTGATGA	0.577000													29	72					1.8613e-05	2.01581e-05	1	1	0
EBF3	253738	broad.mit.edu	37	10	131671816	131671816	+	Silent	SNP	G	G	T	rs150383257		TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr10:131671816G>T	ENST00000368648.3	-	8	753	c.681C>A	c.(679-681)gcC>gcA	p.A227A	EBF3_ENST00000355311.5_Silent_p.A227A	NM_001005463.2	NP_001005463.1	Q9H4W6	COE3_HUMAN	early B-cell factor 3	227					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding|protein binding	p.A227A(2)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	44		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)		OV - Ovarian serous cystadenocarcinoma(35;0.00513)		TGTCTGACACGGCCAGCACGT	0.522000													14	24					2.35188e-11	2.83743e-11	1	1	0
MUC16	94025	broad.mit.edu	37	19	9074611	9074611	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr19:9074611G>T	ENST00000397910.4	-	3	13038	c.12835C>A	c.(12835-12837)Cac>Aac	p.H4279N		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4281	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.H4279N(2)		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						CCCATGATGTGGGAGGTAACC	0.498000													214	80					1.3228e-122	2.53274e-122	1	1	0
ABCB5	340273	broad.mit.edu	37	7	20698196	20698196	+	Missense_Mutation	SNP	T	T	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr7:20698196T>A	ENST00000404938.2	+	14	2256	c.1604T>A	c.(1603-1605)aTt>aAt	p.I535N	ABCB5_ENST00000406935.1_Missense_Mutation_p.I90N|ABCB5_ENST00000258738.6_Missense_Mutation_p.I90N|ABCB5_ENST00000443026.2_Missense_Mutation_p.I90N	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	90	ABC transmembrane type-1.				regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity	p.I90N(2)|p.I535N(1)		breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						AGGATCGCAATTGCTCGTGCC	0.438000													33	145					0	0	1	0	0
COL11A1	1301	broad.mit.edu	37	1	103471410	103471410	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr1:103471410C>A	ENST00000358392.2	-	18	2182	c.1865G>T	c.(1864-1866)gGt>gTt	p.G622V	COL11A1_ENST00000461720.1_5'UTR|COL11A1_ENST00000370096.3_Missense_Mutation_p.G610V|COL11A1_ENST00000512756.1_Missense_Mutation_p.G494V|COL11A1_ENST00000353414.4_Missense_Mutation_p.G571V	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	610	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	p.G622V(1)|p.G610V(1)		NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		ACCTTTGTCACCTGGCAGACC	0.363000													74	58					8.2166e-39	1.35974e-38	1	1	0
PIEZO2	63895	broad.mit.edu	37	18	10672706	10672706	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr18:10672706C>T	ENST00000302079.6	-	50	7797	c.7798G>A	c.(7798-7800)Ggg>Agg	p.G2600R	PIEZO2_ENST00000538948.1_Missense_Mutation_p.G620R|PIEZO2_ENST00000285141.4_Missense_Mutation_p.G455R|PIEZO2_ENST00000581680.1_5'UTR|PIEZO2_ENST00000580640.1_Missense_Mutation_p.G2688R|PIEZO2_ENST00000503781.3_Missense_Mutation_p.G2663R			Q9H5I5	PIEZ2_HUMAN	piezo-type mechanosensitive ion channel component 2	2663						integral to membrane	ion channel activity	p.G2663R(1)|p.G455R(1)									GCCAGGAACCCCAGACTTGGG	0.463000													8	139					0	0	1	0	0
OR2M4	26245	broad.mit.edu	37	1	248402554	248402554	+	Silent	SNP	T	T	C			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr1:248402554T>C	ENST00000306687.1	+	1	324	c.324T>C	c.(322-324)ctT>ctC	p.L108L		NM_017504.1	NP_059974.1	Q96R27	OR2M4_HUMAN	olfactory receptor, family 2, subfamily M, member 4	108					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L108L(1)		NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(27)|skin(3)|upper_aerodigestive_tract(2)	50	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			TGTCCCTGCTTGGAGCTGAAT	0.463000													56	88					0	0	1	0	0
SCNN1A	6337	broad.mit.edu	37	12	6463650	6463650	+	Silent	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr12:6463650C>A	ENST00000358945.3	-	7	1754	c.1314G>T	c.(1312-1314)cgG>cgT	p.R438R	SCNN1A_ENST00000360168.3_Silent_p.R497R|SCNN1A_ENST00000543768.1_Silent_p.R461R|SCNN1A_ENST00000538979.1_5'UTR|SCNN1A_ENST00000396966.2_Silent_p.R438R|SCNN1A_ENST00000228916.2_Silent_p.R438R|SCNN1A_ENST00000540037.1_Silent_p.R138R			P37088	SCNNA_HUMAN	sodium channel, non-voltage-gated 1 alpha subunit	438					excretion|response to stimulus|sensory perception of taste	apical plasma membrane	WW domain binding	p.R438R(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(2)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	27					Amiloride(DB00594)|Triamterene(DB00384)	CGTTCTGGGGCCGCGGATAGA	0.587000													21	16					1.16021e-09	1.35882e-09	1	1	0
MFSD8	256471	broad.mit.edu	37	4	128863280	128863280	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr4:128863280C>A	ENST00000296468.3	-	6	600	c.473G>T	c.(472-474)gGt>gTt	p.G158V	MFSD8_ENST00000513559.1_Missense_Mutation_p.G113V|MFSD8_ENST00000541133.1_Missense_Mutation_p.G113V|MFSD8_ENST00000515130.1_5'UTR	NM_152778.2	NP_689991.1	Q8NHS3	MFSD8_HUMAN	major facilitator superfamily domain containing 8	158					cell death|transmembrane transport	integral to membrane|lysosomal membrane		p.G158F(1)		cervix(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)	23						GGAAGTAGCACCAGCAGTATA	0.358000													54	96					1.53134e-21	2.14235e-21	1	1	0
TMLHE	55217	broad.mit.edu	37	X	154774874	154774874	+	Missense_Mutation	SNP	T	T	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chrX:154774874T>A	ENST00000334398.3	-	2	209	c.64A>T	c.(64-66)Ata>Tta	p.I22L	TMLHE-AS1_ENST00000452506.1_RNA|TMLHE_ENST00000369439.4_Missense_Mutation_p.I22L	NM_018196.3	NP_060666.1	Q9NVH6	TMLH_HUMAN	trimethyllysine hydroxylase, epsilon	22					carnitine biosynthetic process	mitochondrial matrix	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|trimethyllysine dioxygenase activity	p.I22L(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	20	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Succinic acid(DB00139)|Vitamin C(DB00126)	GCCGGATATATGACTCCTCCC	0.468000													126	511					0	0	1	0	0
FCRL5	83416	broad.mit.edu	37	1	157516811	157516811	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr1:157516811C>A	ENST00000361835.3	-	3	386	c.229G>T	c.(229-231)Gtt>Ttt	p.V77F	FCRL5_ENST00000368191.3_Intron|FCRL5_ENST00000368190.3_Missense_Mutation_p.V77F|FCRL5_ENST00000368189.3_Missense_Mutation_p.V77F|FCRL5_ENST00000356953.4_Missense_Mutation_p.V77F|FCRL5_ENST00000368188.2_Missense_Mutation_p.V77F	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	77	Ig-like C2-type 1.					integral to membrane|plasma membrane	receptor activity	p.V77F(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				GATTCCTGAACCTCAAGGATA	0.483000													21	34					0.000229342	0.000241843	1	1	0
CDH23	64072	broad.mit.edu	37	10	73544838	73544838	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr10:73544838C>T	ENST00000224721.6	+	42	5713	c.5708C>T	c.(5707-5709)gCc>gTc	p.A1903V		NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	1898	Cadherin 18.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding	p.A1903V(1)		NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						CGCGAGCGGGCCTTCTTCATC	0.597000													17	26					0	0	1	0	0
OR2G2	81470	broad.mit.edu	37	1	247752207	247752207	+	Silent	SNP	C	C	T	rs146695930	byFrequency	TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr1:247752207C>T	ENST00000320065.1	+	1	546	c.546C>T	c.(544-546)tgC>tgT	p.C182C	RP11-978I15.10_ENST00000435333.1_RNA|RP11-978I15.10_ENST00000446347.1_RNA	NM_001001915.1	NP_001001915.1	Q8NGZ5	OR2G2_HUMAN	olfactory receptor, family 2, subfamily G, member 2	182					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.C182C(2)		endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			ATTTCATCTGCGAGGTCCCTG	0.537000													92	273					0	0	1	0	0
ANK1	286	broad.mit.edu	37	8	41552150	41552150	+	Missense_Mutation	SNP	G	G	C			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr8:41552150G>C	ENST00000396942.1	-	28	3370	c.3287C>G	c.(3286-3288)cCg>cGg	p.P1096R	ANK1_ENST00000265709.8_Missense_Mutation_p.P1137R|ANK1_ENST00000347528.4_Missense_Mutation_p.P1096R|ANK1_ENST00000352337.4_Missense_Mutation_p.P1096R|ANK1_ENST00000379758.2_Missense_Mutation_p.P1096R|ANK1_ENST00000289734.7_Missense_Mutation_p.P1096R|ANK1_ENST00000396945.1_Missense_Mutation_p.P1096R			P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	1096					axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton	p.P1096L(1)|p.P1137L(1)|p.P1137R(1)|p.P1096R(1)		breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			GGCATTCTCCGGGAACGTTGC	0.632000													7	4					0	0	1	0	0
NWD1	284434	broad.mit.edu	37	19	16925914	16925914	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr19:16925914C>A	ENST00000552788.1	+	18	4469	c.4469C>A	c.(4468-4470)cCc>cAc	p.P1490H	NWD1_ENST00000549814.1_Missense_Mutation_p.P1448H|NWD1_ENST00000524140.2_3'UTR|NWD1_ENST00000523826.1_Missense_Mutation_p.P1284H|NWD1_ENST00000339803.6_Missense_Mutation_p.P1355H|NWD1_ENST00000379808.3_3'UTR			Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	1490							ATP binding	p.P1355H(1)		NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						TTCATTGCCCCCACCAGGCAT	0.507000													107	17					2.46087e-49	4.28741e-49	1	1	0
PAM	5066	broad.mit.edu	37	5	102343170	102343170	+	Missense_Mutation	SNP	G	G	T	rs148652099		TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr5:102343170G>T	ENST00000438793.3	+	19	2494	c.2024G>T	c.(2023-2025)gGg>gTg	p.G675V	PAM_ENST00000304400.7_Missense_Mutation_p.G675V|PAM_ENST00000455264.2_Missense_Mutation_p.G675V|PAM_ENST00000274392.9_Missense_Mutation_p.G578V|PAM_ENST00000379787.4_Missense_Mutation_p.G55V|PAM_ENST00000348126.2_Missense_Mutation_p.G568V|PAM_ENST00000346918.2_Missense_Mutation_p.G675V	NM_000919.3|NM_001177306.1|NM_138766.2	NP_000910.2|NP_001170777.1|NP_620121.1	P19021	AMD_HUMAN	peptidylglycine alpha-amidating monooxygenase	675	Peptidyl-alpha-hydroxyglycine alpha- amidating lyase (By similarity).				peptide metabolic process|protein modification process	extracellular region|integral to membrane|stored secretory granule	L-ascorbic acid binding|peptidylamidoglycolate lyase activity|peptidylglycine monooxygenase activity|protein binding	p.G675V(2)		endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	25		all_cancers(142;3.12e-07)|all_epithelial(76;3.48e-10)|Prostate(80;0.00914)|Lung NSC(167;0.0213)|Ovarian(225;0.024)|Colorectal(57;0.0251)|all_lung(232;0.0284)		Epithelial(69;1.1e-13)|COAD - Colon adenocarcinoma(37;0.0127)	Vitamin C(DB00126)	GAGTCTTCAGGGAGCAGTCCT	0.438000													28	66					2.05212e-20	2.8286e-20	1	1	0
FLG2	388698	broad.mit.edu	37	1	152329021	152329021	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr1:152329021G>A	ENST00000388718.5	-	3	1313	c.1241C>T	c.(1240-1242)tCc>tTc	p.S414F	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	414	Ser-rich.						calcium ion binding|structural molecule activity	p.S414F(1)		NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ATCACATTTGGAAAATTCATT	0.423000													45	158					0	0	1	0	0
MYPN	84665	broad.mit.edu	37	10	69909858	69909858	+	Missense_Mutation	SNP	T	T	C			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr10:69909858T>C	ENST00000358913.5	+	6	1795	c.1307T>C	c.(1306-1308)gTg>gCg	p.V436A	MYPN_ENST00000354393.2_Missense_Mutation_p.V161A|MYPN_ENST00000373675.3_Missense_Mutation_p.V436A|MYPN_ENST00000540630.1_Missense_Mutation_p.V436A	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN	myopalladin	436	Ig-like 2.|Interaction with CARP.					nucleus|sarcomere	actin binding	p.V436A(1)		breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						GCAGCTCCTGTGTTTACAAAG	0.363000													31	97					0	0	1	0	0
N6AMT1	29104	broad.mit.edu	37	21	30252218	30252218	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr21:30252218G>T	ENST00000303775.5	-	4	395	c.370C>A	c.(370-372)Ccc>Acc	p.P124T	N6AMT1_ENST00000351429.3_Intron	NM_013240.4	NP_037372.3	Q9Y5N5	HEMK2_HUMAN	N-6 adenine-specific DNA methyltransferase 1 (putative)	124	Substrate binding (By similarity).				positive regulation of cell growth	protein complex	nucleic acid binding|protein binding|protein methyltransferase activity	p.P124T(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)	12						ACTACATAGGGGGGATTAAAC	0.308000													37	202					6.08268e-21	8.44649e-21	1	1	0
ITK	3702	broad.mit.edu	37	5	156638359	156638359	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr5:156638359G>T	ENST00000422843.3	+	3	457	c.305G>T	c.(304-306)tGg>tTg	p.W102L	CTB-4E7.1_ENST00000519375.1_RNA	NM_005546.3	NP_005537.3	Q08881	ITK_HUMAN	IL2-inducible T-cell kinase	102	PH.				cellular defense response|intracellular signal transduction|T cell receptor signaling pathway	cytosol|plasma membrane	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding	p.W102L(1)		breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(25)|ovary(8)|prostate(2)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	70	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.1)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CGGCAGCGCTGGGTGCTGGCC	0.488000			T	SYK	peripheral T-cell lymphoma								28	95					1.22674e-20	1.69508e-20	1	1	0
ITGA11	22801	broad.mit.edu	37	15	68596108	68596108	+	Splice_Site	SNP	A	A	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr15:68596108A>T	ENST00000423218.2	-	29	3594		c.e29+1		ITGA11_ENST00000315757.7_Splice_Site			Q9UKX5	ITA11_HUMAN	integrin, alpha 11						cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development	integrin complex	collagen binding|receptor activity	p.?(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52					Tirofiban(DB00775)	CAGGGCCCTCACCTTCCACAG	0.662000													16	35					0	0	1	0	0
NPY2R	4887	broad.mit.edu	37	4	156135191	156135191	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr4:156135191C>A	ENST00000329476.3	+	2	589	c.100C>A	c.(100-102)Cct>Act	p.P34T	NPY2R_ENST00000506608.1_Missense_Mutation_p.P34T	NM_000910.2	NP_000901.1	P49146	NPY2R_HUMAN	neuropeptide Y receptor Y2	34					cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis	integral to plasma membrane	calcium channel regulator activity	p.P34T(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1)	36	all_hematologic(180;0.24)	Renal(120;0.0854)				TGAACTGGTCCCTGACCCTGA	0.478000													33	73					4.65686e-17	6.08974e-17	1	1	0
FAM181B	220382	broad.mit.edu	37	11	82444630	82444630	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr11:82444630C>T	ENST00000329203.3	-	1	276	c.142G>A	c.(142-144)Ggt>Agt	p.G48S		NM_175885.3	NP_787081.2	A6NEQ2	F181B_HUMAN	family with sequence similarity 181, member B	48								p.G48S(1)		large_intestine(1)|lung(2)|prostate(1)	4						AGCAGCGCACCCGCCGGAGCC	0.692000													3	6					0	0	1	0	0
ITSN1	6453	broad.mit.edu	37	21	35124178	35124178	+	Missense_Mutation	SNP	A	A	C			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr21:35124178A>C	ENST00000381318.3	+	7	878	c.590A>C	c.(589-591)aAa>aCa	p.K197T	ITSN1_ENST00000399338.4_Missense_Mutation_p.K197T|ITSN1_ENST00000381291.4_Missense_Mutation_p.K197T|ITSN1_ENST00000399349.1_Missense_Mutation_p.K197T|ITSN1_ENST00000381285.4_Missense_Mutation_p.K197T|ITSN1_ENST00000399326.3_Missense_Mutation_p.K197T|ITSN1_ENST00000399353.1_Missense_Mutation_p.K160T|ITSN1_ENST00000399355.2_Missense_Mutation_p.K197T|ITSN1_ENST00000437442.2_Missense_Mutation_p.K197T|ITSN1_ENST00000379960.5_Missense_Mutation_p.K197T|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000399367.3_Missense_Mutation_p.K197T|ITSN1_ENST00000399352.1_Missense_Mutation_p.K197T	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	197					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity	p.K197T(1)		breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						CTAAACACTAAATTACAAAAG	0.338000													104	76					0	0	1	0	0
CACNA2D4	93589	broad.mit.edu	37	12	1953620	1953620	+	Silent	SNP	T	T	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr12:1953620T>A	ENST00000382722.5	-	25	2780	c.2418A>T	c.(2416-2418)tcA>tcT	p.S806S	CACNA2D4_ENST00000586184.1_Silent_p.S806S|CACNA2D4_ENST00000585708.1_Silent_p.S742S|CACNA2D4_ENST00000539048.2_5'UTR|CACNA2D4_ENST00000585732.1_Silent_p.S667S|CACNA2D4_ENST00000587995.1_Silent_p.S781S|CACNA2D4_ENST00000588077.1_Silent_p.S742S	NM_172364.4	NP_758952.4	Q7Z3S7	CA2D4_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 4	806						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity	p.S806S(2)		endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		CAGGATGCTCTGAGGCCTGGC	0.632000													14	22					0	0	1	0	0
TEX11	56159	broad.mit.edu	37	X	69964040	69964040	+	Missense_Mutation	SNP	T	T	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chrX:69964040T>A	ENST00000395889.2	-	11	922	c.767A>T	c.(766-768)aAg>aTg	p.K256M	TEX11_ENST00000374333.2_Missense_Mutation_p.K241M|TEX11_ENST00000344304.3_Missense_Mutation_p.K256M	NM_001003811.1	NP_001003811.1	Q8IYF3	TEX11_HUMAN	testis expressed 11	256							protein binding	p.K241M(1)		breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(13)|ovary(3)|prostate(3)|skin(3)	48	Renal(35;0.156)					AGTAGATTTCTTATCCATCTT	0.239000													15	10					0	0	1	0	0
COL21A1	81578	broad.mit.edu	37	6	55922481	55922481	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr6:55922481G>A	ENST00000244728.5	-	30	3245	c.2848C>T	c.(2848-2850)Ccg>Tcg	p.P950S	COL21A1_ENST00000467045.1_5'UTR|COL21A1_ENST00000370808.2_Missense_Mutation_p.P316S|COL21A1_ENST00000370819.1_Missense_Mutation_p.P947S|COL21A1_ENST00000535941.1_Missense_Mutation_p.P950S	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1	950					cell adhesion	collagen|cytoplasm	structural molecule activity	p.P950S(2)		breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			TTTCTGAACGGATCTCTTCTG	0.473000													33	45					0	0	1	0	0
TAF9B	51616	broad.mit.edu	37	X	77388927	77388927	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chrX:77388927G>A	ENST00000341864.5	-	6	594	c.500C>T	c.(499-501)tCt>tTt	p.S167F		NM_015975.4	NP_057059.2	Q9HBM6	TAF9B_HUMAN	TAF9B RNA polymerase II, TATA box binding protein (TBP)-associated factor, 31kDa	167					negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cell growth|transcription initiation, DNA-dependent	transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	14						ATTTGGGACAGACACCGTTTG	0.418000													15	552					0	0	1	0	0
OR4C46	119749	broad.mit.edu	37	11	51515672	51515672	+	Missense_Mutation	SNP	A	A	G	rs140334906		TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr11:51515672A>G	ENST00000328188.1	+	1	391	c.391A>G	c.(391-393)Atg>Gtg	p.M131V		NM_001004703.1	NP_001004703.1	A6NHA9	O4C46_HUMAN	olfactory receptor, family 4, subfamily C, member 46	131					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.M131V(1)		endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	48						CTTGCACTATATGACTATCAT	0.478000													180	192					0	0	1	0	0
KIF17	57576	broad.mit.edu	37	1	21016808	21016808	+	Silent	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr1:21016808G>T	ENST00000247986.2	-	7	1564	c.1254C>A	c.(1252-1254)gcC>gcA	p.A418A	KIF17_ENST00000490034.1_5'UTR|KIF17_ENST00000375044.1_Silent_p.A318A|KIF17_ENST00000400463.3_Silent_p.A418A			Q9P2E2	KIF17_HUMAN	kinesin family member 17	418					microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding	p.A418A(1)		NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		CTTTCAGCCGGGCCAGGCGCT	0.562000													8	1					1.3612e-06	1.51816e-06	1	1	0
FIGN	55137	broad.mit.edu	37	2	164468190	164468190	+	Missense_Mutation	SNP	T	T	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr2:164468190T>A	ENST00000333129.3	-	3	466	c.152A>T	c.(151-153)cAg>cTg	p.Q51L	FIGN_ENST00000409634.1_Intron|FIGN_ENST00000482917.1_5'UTR	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN	fidgetin	51						nuclear matrix	ATP binding|nucleoside-triphosphatase activity	p.Q51L(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						CCAGGCGTACTGATAGGTGCG	0.502000													181	342					0	0	1	0	0
RFPL4B	442247	broad.mit.edu	37	6	112671067	112671067	+	Nonsense_Mutation	SNP	C	C	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr6:112671067C>T	ENST00000441065.2	+	3	469	c.157C>T	c.(157-159)Cga>Tga	p.R53*	RP11-506B6.6_ENST00000587816.1_RNA	NM_001013734.2	NP_001013756.2	Q6ZWI9	RFPLB_HUMAN	ret finger protein-like 4B	53							zinc ion binding	p.R53*(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|skin(1)	14		all_cancers(87;9.44e-05)|all_hematologic(75;0.000114)|all_epithelial(87;0.00265)|Colorectal(196;0.0209)		all cancers(137;0.0202)|OV - Ovarian serous cystadenocarcinoma(136;0.0477)|Epithelial(106;0.0646)|GBM - Glioblastoma multiforme(226;0.0866)|BRCA - Breast invasive adenocarcinoma(108;0.244)		CCCCTTGTGTCGAGACGTGGT	0.463000													3	38					0	0	1	0	0
INPP4B	8821	broad.mit.edu	37	4	143129683	143129683	+	Splice_Site	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr4:143129683C>A	ENST00000513000.1	-	15	1401		c.e15-1		INPP4B_ENST00000509777.1_Splice_Site|INPP4B_ENST00000262992.4_Splice_Site|INPP4B_ENST00000308502.4_Splice_Site|INPP4B_ENST00000508116.1_Splice_Site	NM_003866.2	NP_003857.2	O15327	INP4B_HUMAN	inositol polyphosphate-4-phosphatase, type II, 105kDa						signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity	p.?(1)		breast(3)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(29)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58	all_hematologic(180;0.158)					AAAGAGGACCCTGATGGAAAC	0.303000													11	26					0.00136819	0.00141877	1	1	0
ADAMTS5	11096	broad.mit.edu	37	21	28302275	28302275	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr21:28302275C>A	ENST00000284987.5	-	7	2276	c.2155G>T	c.(2155-2157)Gac>Tac	p.D719Y	AP001601.2_ENST00000426771.1_RNA	NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	719	Cys-rich.				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding	p.D719Y(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						CCGCACTTGTCATACTGCAGC	0.458000													78	443					2.70612e-23	3.85313e-23	1	1	0
BANK1	55024	broad.mit.edu	37	4	102751288	102751288	+	Nonsense_Mutation	SNP	C	C	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr4:102751288C>T	ENST00000504592.1	+	6	767	c.349C>T	c.(349-351)Caa>Taa	p.Q117*	BANK1_ENST00000444316.2_Nonsense_Mutation_p.Q102*|BANK1_ENST00000508653.1_Intron|BANK1_ENST00000322953.4_Nonsense_Mutation_p.Q132*|BANK1_ENST00000428908.1_Intron			Q8NDB2	BANK1_HUMAN	B-cell scaffold protein with ankyrin repeats 1	132	Interaction with ITPR2.				B cell activation			p.Q132*(1)		NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|liver(2)|lung(16)|ovary(2)|skin(2)|urinary_tract(1)	44		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)		AAATATCTCTCAAAGCAGATG	0.373000													44	85					0	0	1	0	0
SERPINB11	89778	broad.mit.edu	37	18	61387285	61387285	+	RNA	SNP	C	C	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr18:61387285C>T	ENST00000544088.1	+	0	576				SERPINB11_ENST00000538847.1_RNA|SERPINB11_ENST00000489748.1_RNA|SERPINB11_ENST00000536691.1_RNA|SERPINB11_ENST00000382749.5_RNA	NM_080475.2	NP_536723.2	Q96P15	SPB11_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 11 (gene/pseudogene)						regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity	p.P172S(1)		breast(1)|cervix(1)|kidney(1)|lung(3)	6		Esophageal squamous(42;0.129)				CACAATTGACCCTTCATCTGT	0.333000													64	72					0	0	1	0	0
OR5W2	390148	broad.mit.edu	37	11	55681287	55681287	+	Missense_Mutation	SNP	T	T	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr11:55681287T>A	ENST00000344514.1	-	1	771	c.772A>T	c.(772-774)Atg>Ttg	p.M258L		NM_001001960.1	NP_001001960.1	Q8NH69	OR5W2_HUMAN	olfactory receptor, family 5, subfamily W, member 2	258					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.M258L(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(28)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						CGGAAATACATAAAGAGCAGA	0.438000													23	81					0	0	1	0	0
TLE4	7091	broad.mit.edu	37	9	82242321	82242321	+	Silent	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr9:82242321G>T	ENST00000376520.4	+	6	1176	c.348G>T	c.(346-348)cgG>cgT	p.R116R	TLE4_ENST00000376552.2_Silent_p.R116R|TLE4_ENST00000265284.6_Intron|TLE4_ENST00000376544.3_Silent_p.R116R|TLE4_ENST00000376534.4_5'UTR|TLE4_ENST00000455913.1_3'UTR|TLE4_ENST00000376537.4_Silent_p.R116R			O60756	BCE1_HUMAN	transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila)	0								p.R116R(2)		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						CTGTGGAACGGGCCAAGCAGG	0.453000													226	240					4.96009e-127	9.56224e-127	1	1	0
KTN1	3895	broad.mit.edu	37	14	56122831	56122831	+	Missense_Mutation	SNP	G	G	C			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr14:56122831G>C	ENST00000416613.1	+	28	2945	c.2873G>C	c.(2872-2874)aGc>aCc	p.S958T	KTN1_ENST00000395309.3_Missense_Mutation_p.S958T|KTN1_ENST00000395314.3_Missense_Mutation_p.S958T|KTN1_ENST00000413890.2_Missense_Mutation_p.S935T|KTN1_ENST00000395311.1_Missense_Mutation_p.S935T|KTN1_ENST00000438792.2_Missense_Mutation_p.S958T|KTN1_ENST00000554507.1_Missense_Mutation_p.S253T|KTN1_ENST00000395308.1_Missense_Mutation_p.S935T			Q86UP2	KTN1_HUMAN	kinectin 1 (kinesin receptor)	958					microtubule-based movement	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction		p.S958T(1)		breast(4)|central_nervous_system(1)|large_intestine(8)|lung(1)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	19						GATCTTTCTAGCAAAACACAG	0.303000			T	RET	papillary thryoid								14	45					0	0	1	0	0
CYLC1	1538	broad.mit.edu	37	X	83129105	83129105	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chrX:83129105G>T	ENST00000329312.4	+	4	1426	c.1389G>T	c.(1387-1389)aaG>aaT	p.K463N		NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head cytoskeleton 1	463					cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity	p.K462N(1)|p.K463N(1)		NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						ATGAAAAGAAGGGGAAGAAAG	0.353000													37	37					2.61675e-31	4.01093e-31	1	1	0
ANK2	287	broad.mit.edu	37	4	114276963	114276963	+	Missense_Mutation	SNP	T	T	C			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr4:114276963T>C	ENST00000357077.4	+	38	7242	c.7189T>C	c.(7189-7191)Tca>Cca	p.S2397P	ANK2_ENST00000264366.6_Missense_Mutation_p.S2364P|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000509550.1_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	2364					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	p.S2397P(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		AGGAACTGAATCAAAACCTCA	0.502000													60	76					0	0	1	0	0
CLN3	1201	broad.mit.edu	37	16	28498827	28498827	+	Nonsense_Mutation	SNP	C	C	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr16:28498827C>T	ENST00000357806.7	-	5	553	c.330G>A	c.(328-330)tgG>tgA	p.W110*	CLN3_ENST00000569430.1_Missense_Mutation_p.G137E|CLN3_ENST00000357857.9_Missense_Mutation_p.G83E|CLN3_ENST00000357076.5_Missense_Mutation_p.G137E|CLN3_ENST00000568224.1_Missense_Mutation_p.G59E|CLN3_ENST00000567963.1_Missense_Mutation_p.G137E|CLN3_ENST00000395653.4_Missense_Mutation_p.G37E|CLN3_ENST00000535392.1_Missense_Mutation_p.G59E|CLN3_ENST00000565316.1_Missense_Mutation_p.G137E|CLN3_ENST00000360019.2_Missense_Mutation_p.G137E|CLN3_ENST00000355477.5_Missense_Mutation_p.G137E|CLN3_ENST00000333496.9_Missense_Mutation_p.G113E|CLN3_ENST00000359984.7_Missense_Mutation_p.G137E|CLN3_ENST00000354630.5_Missense_Mutation_p.G137E			Q13286	CLN3_HUMAN	ceroid-lipofuscinosis, neuronal 3	0					amyloid precursor protein catabolic process|arginine transport|associative learning|autophagic vacuole fusion|cell death|cellular amino acid metabolic process|cytosolic calcium ion homeostasis|galactosylceramide metabolic process|globoside metabolic process|glucosylceramide metabolic process|ionotropic glutamate receptor signaling pathway|lysosomal lumen acidification|lysosomal lumen pH elevation|negative regulation of catalytic activity|negative regulation of macroautophagy|negative regulation of neuron apoptosis|negative regulation of proteolysis|neuromuscular process controlling balance|neurotransmitter metabolic process|protein catabolic process|protein folding|protein processing|receptor-mediated endocytosis|regulation of action potential|sphingomyelin metabolic process|vacuolar transport	autophagic vacuole|caveola|cytosol|early endosome|Golgi membrane|Golgi stack|integral to endoplasmic reticulum membrane|late endosome|lysosomal membrane|membrane fraction|mitochondrion|neuron projection|nucleus|synaptic vesicle|trans-Golgi network	unfolded protein binding	p.G137E(1)		breast(1)|large_intestine(2)|lung(11)|upper_aerodigestive_tract(1)	15						GACGAAGCTTCCAGCAGCACA	0.592000													8	33					0	0	1	0	0
KMT2D	8085	broad.mit.edu	37	12	49448739	49448739	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr12:49448739C>A	ENST00000301067.7	-	2	119	c.120G>T	c.(118-120)gaG>gaT	p.E40D		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D									p.E40D(2)									GGACAGAGACCTCTCCCACAT	0.532000													163	232					1.02705e-64	1.88909e-64	1	1	0
ZNF208	7757	broad.mit.edu	37	19	22155657	22155657	+	Missense_Mutation	SNP	C	C	G			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr19:22155657C>G	ENST00000397126.4	-	4	2327	c.2179G>C	c.(2179-2181)Ggc>Cgc	p.G727R	ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	NM_007153.3	NP_009084.2			zinc finger protein 208									p.G627R(2)|p.G727R(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				AAGCTTTTGCCACATTCTTCA	0.378000													45	124					0	0	1	0	0
KEL	3792	broad.mit.edu	37	7	142639572	142639572	+	Silent	SNP	C	C	A	rs140592001	byFrequency	TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr7:142639572C>A	ENST00000355265.2	-	18	2460	c.1986G>T	c.(1984-1986)ctG>ctT	p.L662L		NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	662					proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding	p.L662L(1)		central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					CCAGGCTGGGCAGGACAGTCT	0.587000													12	35					9.16793e-09	1.0561e-08	1	1	0
PRKAB1	5564	broad.mit.edu	37	12	120112187	120112187	+	Nonsense_Mutation	SNP	C	C	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr12:120112187C>T	ENST00000229328.5	+	4	952	c.460C>T	c.(460-462)Caa>Taa	p.Q154*	PRKAB1_ENST00000540121.1_5'UTR|PRKAB1_ENST00000541640.1_Nonsense_Mutation_p.Q154*	NM_006253.4	NP_006244.2	Q9Y478	AAKB1_HUMAN	protein kinase, AMP-activated, beta 1 non-catalytic subunit	154					cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid oxidation	cytosol		p.Q154*(1)		endometrium(2)|large_intestine(3)|lung(5)	10	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.166)	Adenosine monophosphate(DB00131)|Metformin(DB00331)	CAACATCATTCAAGTGAAGAA	0.413000													7	92					0	0	1	0	0
XKR4	114786	broad.mit.edu	37	8	56436303	56436303	+	Silent	SNP	A	A	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr8:56436303A>T	ENST00000327381.5	+	3	1570	c.1470A>T	c.(1468-1470)ccA>ccT	p.P490P		NM_052898.1	NP_443130.1	Q5GH76	XKR4_HUMAN	XK, Kell blood group complex subunit-related family, member 4	490						integral to membrane		p.P490P(1)		NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34			Epithelial(17;0.000117)|all cancers(17;0.000836)			TTGCCATTCCAGCGCTGTGTG	0.453000													38	22					0	0	1	0	0
REG1P	5969	broad.mit.edu	37	2	79364039	79364039	+	RNA	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr2:79364039G>T	ENST00000444841.1	-	0	299																											CTGAATTCATGTTCTGGCAGT	0.493000													50	124					3.53049e-34	5.64274e-34	1	1	0
SLC5A8	160728	broad.mit.edu	37	12	101573854	101573854	+	Missense_Mutation	SNP	A	A	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr12:101573854A>T	ENST00000536262.2	-	10	1744	c.1186T>A	c.(1186-1188)Tgt>Agt	p.C396S		NM_145913.3	NP_666018.3	Q8N695	SC5A8_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8	396					apoptosis|sodium ion transport	apical plasma membrane|integral to membrane	monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity	p.C396S(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						ATTCCAATACACAGGGCTCCA	0.433000													157	289					0	0	1	0	0
SIGLEC11	114132	broad.mit.edu	37	19	50462124	50462124	+	Missense_Mutation	SNP	G	G	C	rs149136670	byFrequency	TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr19:50462124G>C	ENST00000447370.2	-	7	1229	c.1139C>G	c.(1138-1140)cCg>cGg	p.P380R	SIGLEC11_ENST00000426971.2_Missense_Mutation_p.P380R	NM_052884.2	NP_443116.2	Q96RL6	SIG11_HUMAN	sialic acid binding Ig-like lectin 11	380	Ig-like C2-type 3.				cell adhesion	integral to membrane	sugar binding	p.P368R(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1)	32		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517)		CTCCAGGACCGGGAGGGATGT	0.672000													11	21					0	0	1	0	0
OR4F6	390648	broad.mit.edu	37	15	102346241	102346241	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr15:102346241G>T	ENST00000328882.4	+	1	340	c.319G>T	c.(319-321)Gtt>Ttt	p.V107F		NM_001005326.1	NP_001005326.1	Q8NGB9	OR4F6_HUMAN	olfactory receptor, family 4, subfamily F, member 6	107					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V107F(1)		breast(1)|large_intestine(1)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)			TATCCATGCAGTTGGGGGAAC	0.473000													147	659					3.69633e-99	7.02929e-99	1	1	0
TNRC6C	57690	broad.mit.edu	37	17	76061008	76061008	+	Silent	SNP	G	G	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr17:76061008G>A	ENST00000335749.4	+	4	3161	c.2592G>A	c.(2590-2592)ctG>ctA	p.L864L	TNRC6C_ENST00000588061.1_Silent_p.L867L|TNRC6C_ENST00000301624.4_Silent_p.L867L|TNRC6C_ENST00000544502.1_Silent_p.L864L|TNRC6C_ENST00000588847.1_Silent_p.L864L|TNRC6C_ENST00000541771.1_Silent_p.L867L	NM_001142640.1	NP_001136112.1	Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C	867	Sufficient for interaction with argonaute family proteins.				gene silencing by RNA|regulation of translation		nucleotide binding|RNA binding	p.L867L(1)|p.L864L(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			CCTCAGCCCTGTGCAAACCAG	0.532000													6	3					0	0	1	0	0
ARID1A	8289	broad.mit.edu	37	1	27106171	27106171	+	Nonsense_Mutation	SNP	A	A	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr1:27106171A>T	ENST00000324856.7	+	20	6153	c.5782A>T	c.(5782-5784)Aag>Tag	p.K1928*	ARID1A_ENST00000457599.2_Nonsense_Mutation_p.K1711*|ARID1A_ENST00000374152.2_Nonsense_Mutation_p.K1545*|ARID1A_ENST00000540690.1_Nonsense_Mutation_p.K256*	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1928					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	p.K1928*(1)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GGATGGAGCTAAGAGTTCAGA	0.542000			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								174	157					0	0	1	0	0
POLR3E	55718	broad.mit.edu	37	16	22325425	22325425	+	Silent	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr16:22325425G>T	ENST00000299853.5	+	8	665	c.498G>T	c.(496-498)gcG>gcT	p.A166A	POLR3E_ENST00000359210.4_Silent_p.A166A|POLR3E_ENST00000418581.2_Silent_p.A130A|POLR3E_ENST00000564209.1_Silent_p.A166A	NM_001258033.1|NM_001258035.1|NM_018119.3	NP_001244962.1|NP_001244964.1|NP_060589.1	Q9NVU0	RPC5_HUMAN	polymerase (RNA) III (DNA directed) polypeptide E (80kD)	166					innate immune response|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA-directed RNA polymerase activity	p.A166A(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.012)		AGGATGAGGCGGAAGACGATG	0.637000													8	17					0.00010058	0.000106866	1	1	0
CLDN8	9073	broad.mit.edu	37	21	31588059	31588059	+	Missense_Mutation	SNP	A	A	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr21:31588059A>T	ENST00000399899.1	-	1	332	c.185T>A	c.(184-186)aTg>aAg	p.M62K	CLDN8_ENST00000286809.1_Missense_Mutation_p.M62K	NM_199328.2	NP_955360.1	P56748	CLD8_HUMAN	claudin 8	62					calcium-independent cell-cell adhesion	endoplasmic reticulum|integral to membrane|tight junction	identical protein binding|structural molecule activity	p.M62K(1)		NS(1)|endometrium(2)|large_intestine(6)|lung(6)	15						TTTGCACTGCATCCTGATGTT	0.498000													33	186					0	0	1	0	0
FAM13C	220965	broad.mit.edu	37	10	61011256	61011256	+	Silent	SNP	C	C	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr10:61011256C>T	ENST00000435852.2	-	13	1760	c.1713G>A	c.(1711-1713)caG>caA	p.Q571Q	FAM13C_ENST00000442566.3_Intron|FAM13C_ENST00000373868.2_Intron|FAM13C_ENST00000468840.2_Intron|FAM13C_ENST00000419214.2_Intron|FAM13C_ENST00000373867.3_Intron|FAM13C_ENST00000277705.6_Intron			Q8NE31	FA13C_HUMAN	family with sequence similarity 13, member C	0										NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						GTCACCGTTCCTGCAAAAAAT	0.348000													6	28					0	0	1	0	0
FAM98C	147965	broad.mit.edu	37	19	38896205	38896205	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr19:38896205G>T	ENST00000252530.5	+	6	699	c.680G>T	c.(679-681)tGc>tTc	p.C227F	FAM98C_ENST00000588262.1_Intron|FAM98C_ENST00000343358.7_Missense_Mutation_p.C201F	NM_174905.3	NP_777565.3	Q17RN3	FA98C_HUMAN	family with sequence similarity 98, member C	227								p.C227F(1)		endometrium(2)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(60;3.95e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			CAGTACCGCTGCCGCCGCTGC	0.597000													10	14					1.58986e-06	1.76967e-06	1	1	0
PIP5K1A	8394	broad.mit.edu	37	1	151171540	151171540	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr1:151171540C>T	ENST00000409426.1	+	1	513	c.68C>T	c.(67-69)tCc>tTc	p.S23F	PIP5K1A_ENST00000441902.2_Missense_Mutation_p.S23F|PIP5K1A_ENST00000368890.4_Missense_Mutation_p.S23F|PIP5K1A_ENST00000368888.4_Missense_Mutation_p.S23F			Q99755	PI51A_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, alpha	23					phospholipid biosynthetic process|signal transduction	endomembrane system|Golgi stack|lamellipodium|nuclear speck	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|kinase binding	p.S23F(1)|p.S23C(1)		breast(1)|central_nervous_system(1)|ovary(1)|skin(1)|stomach(1)	5	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.181)			GCGGTCCCTTCCTGTACCTTG	0.627000													24	17					0	0	1	0	0
CDH2	1000	broad.mit.edu	37	18	25562988	25562988	+	Nonsense_Mutation	SNP	G	G	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr18:25562988G>A	ENST00000269141.3	-	14	2692	c.2269C>T	c.(2269-2271)Caa>Taa	p.Q757*	CDH2_ENST00000399380.3_Nonsense_Mutation_p.Q726*	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)	757					adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding	p.Q757*(1)		NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						ATTAAAAGTTGTTTGGCCTGG	0.353000													42	143					0	0	1	0	0
GNPAT	8443	broad.mit.edu	37	1	231403468	231403468	+	Silent	SNP	C	C	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr1:231403468C>T	ENST00000366647.4	+	9	1267	c.1098C>T	c.(1096-1098)gtC>gtT	p.V366V	GNPAT_ENST00000366646.3_Silent_p.V305V	NM_014236.3	NP_055051.1	O15228	GNPAT_HUMAN	glyceronephosphate O-acyltransferase	366					ether lipid biosynthetic process|fatty acid metabolic process|organ morphogenesis	peroxisomal matrix|peroxisomal membrane	glycerone-phosphate O-acyltransferase activity	p.V366V(2)		breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	23	Breast(184;0.0871)	all_cancers(173;0.2)|Prostate(94;0.183)				ATGCCTTTGTCACTGAAGTTG	0.433000													15	172					0	0	1	0	0
MYBPC2	4606	broad.mit.edu	37	19	50957609	50957609	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr19:50957609G>A	ENST00000357701.5	+	18	2048	c.1997G>A	c.(1996-1998)gGg>gAg	p.G666E		NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type	666	Fibronectin type-III 1.				cell adhesion|muscle filament sliding	cytosol|myosin filament	actin binding|structural constituent of muscle	p.G666E(1)		breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		ATGTACGATGGGGGGAAGCCA	0.542000													40	58					0	0	1	0	0
SPATA6	54558	broad.mit.edu	37	1	48850997	48850997	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr1:48850997C>A	ENST00000371847.3	-	9	1057	c.893G>T	c.(892-894)cGa>cTa	p.R298L	SPATA6_ENST00000371843.3_Missense_Mutation_p.R298L|SPATA6_ENST00000396199.3_Missense_Mutation_p.R226L	NM_019073.2	NP_061946.1	Q9NWH7	SPAT6_HUMAN	spermatogenesis associated 6	298					cell differentiation|multicellular organismal development|spermatogenesis	extracellular region		p.R298L(1)		breast(1)|endometrium(2)|large_intestine(6)|lung(7)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	21						ATCCTTGGGTCGGCAGCAGCC	0.299000													9	40					0.006122	0.00632494	1	1	0
ARHGAP5	394	broad.mit.edu	37	14	32562466	32562466	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr14:32562466G>T	ENST00000345122.3	+	2	2906	c.2591G>T	c.(2590-2592)gGa>gTa	p.G864V	ARHGAP5_ENST00000433497.1_Intron|ARHGAP5_ENST00000432921.1_Missense_Mutation_p.G864V|ARHGAP5_ENST00000556611.1_Missense_Mutation_p.G864V|ARHGAP5_ENST00000539826.2_Missense_Mutation_p.G864V|ARHGAP5_ENST00000396582.2_Intron	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5	864					cell adhesion|Rho protein signal transduction	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding	p.G864V(1)		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)		GCTTCGATGGGAATGCTTCGA	0.383000													15	109					3.51602e-12	4.30674e-12	1	1	0
ZNF510	22869	broad.mit.edu	37	9	99521121	99521121	+	Missense_Mutation	SNP	A	A	G			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr9:99521121A>G	ENST00000375231.1	-	6	2641	c.1991T>C	c.(1990-1992)tTa>tCa	p.L664S	ZNF510_ENST00000223428.4_Missense_Mutation_p.L664S			Q9Y2H8	ZN510_HUMAN	zinc finger protein 510	664					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.L664S(1)		NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|stomach(1)|urinary_tract(1)	21		Acute lymphoblastic leukemia(62;0.0527)				CTTCTTACATAATTTCCCATA	0.363000													38	88					0	0	1	0	0
XYLT1	64131	broad.mit.edu	37	16	17228362	17228362	+	Silent	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr16:17228362C>A	ENST00000261381.6	-	9	2079	c.1995G>T	c.(1993-1995)acG>acT	p.T665T	CTD-2576D5.4_ENST00000567344.1_RNA	NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	665					glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity	p.T665T(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						TGTGCAGGGACGTCTCGGCCC	0.607000													13	52					5.26018e-13	6.54315e-13	1	1	0
SALL1	6299	broad.mit.edu	37	16	51172949	51172949	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr16:51172949C>T	ENST00000440970.1	-	2	3324	c.2893G>A	c.(2893-2895)Gag>Aag	p.E965K	SALL1_ENST00000541611.1_Intron|SALL1_ENST00000566102.1_Intron|SALL1_ENST00000251020.4_Missense_Mutation_p.E1062K	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	1062					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.E1062K(1)		NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			GAACTGGGCTCAAAGAGCTGG	0.488000													3	44					0	0	1	0	0
KIF9	64147	broad.mit.edu	37	3	47286357	47286357	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr3:47286357C>T	ENST00000335044.2	-	15	1795	c.1438G>A	c.(1438-1440)Gga>Aga	p.G480R	KIF9_ENST00000352910.4_Missense_Mutation_p.G387R|KIF9_ENST00000487440.1_5'UTR|KIF9-AS1_ENST00000429315.3_RNA|KIF9_ENST00000265529.3_Missense_Mutation_p.G480R|KIF9_ENST00000452770.2_Missense_Mutation_p.G480R|KIF9_ENST00000444589.2_Missense_Mutation_p.G480R	NM_001134878.1|NM_182902.3	NP_001128350.1|NP_878905.2	Q9HAQ2	KIF9_HUMAN	kinesin family member 9	480					blood coagulation|microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	p.G480R(1)		central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(15)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)	34		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000284)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		ACTCCGAGTCCAAAGTTTTGT	0.527000													3	39					0	0	1	0	0
HCN1	348980	broad.mit.edu	37	5	45262807	45262807	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr5:45262807C>A	ENST00000303230.4	-	8	1946	c.1889G>T	c.(1888-1890)aGg>aTg	p.R630M		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	630						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	p.R630M(2)		NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						CACCATCTCCCTGTCATGTTT	0.448000													80	131					2.76863e-45	4.69245e-45	1	1	0
ANKRD30A	91074	broad.mit.edu	37	10	37430752	37430752	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr10:37430752G>T	ENST00000374660.1	+	7	858	c.759G>T	c.(757-759)ttG>ttT	p.L253F	ANKRD30A_ENST00000361713.1_Missense_Mutation_p.L253F|ANKRD30A_ENST00000602533.1_Missense_Mutation_p.L253F			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	309						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.L253F(2)		NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						CTGCACCCTTGGTGGAAAGAA	0.502000													22	27					6.12954e-19	8.18731e-19	1	1	0
CHORDC1	26973	broad.mit.edu	37	11	89947211	89947211	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr11:89947211G>T	ENST00000320585.6	-	4	713	c.304C>A	c.(304-306)Cca>Aca	p.P102T	CHORDC1_ENST00000530765.1_Missense_Mutation_p.P102T|CHORDC1_ENST00000457199.2_Missense_Mutation_p.P83T	NM_012124.2	NP_036256.2	Q9UHD1	CHRD1_HUMAN	cysteine and histidine-rich domain (CHORD) containing 1	102	Interaction with HSP90AA1 and HSP90AB1 (By similarity).				chaperone-mediated protein folding|regulation of response to stress|response to stress		Hsp90 protein binding|identical protein binding	p.P102T(1)		endometrium(2)|large_intestine(2)|liver(1)|lung(6)	11		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.00915)				GCTTCTACTGGCTTAGGGGCT	0.383000													24	67					1.17739e-12	1.45488e-12	1	1	0
EML2	24139	broad.mit.edu	37	19	46116800	46116800	+	Splice_Site	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr19:46116800C>A	ENST00000536630.1	-	21	2402	c.2265_splice	c.e21+1	p.R755_splice	EML2_ENST00000245925.3_Splice_Site_p.R608_splice|EML2_ENST00000589876.1_Splice_Site_p.R608_splice|EML2_ENST00000587152.1_Splice_Site_p.R809_splice	NM_001193269.1	NP_001180198.1	O95834	EMAL2_HUMAN	echinoderm microtubule associated protein like 2	608					sensory perception of sound|visual perception	cytoplasm|intracellular membrane-bounded organelle|microtubule|microtubule associated complex	catalytic activity|protein binding	p.R608L(1)		NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|urinary_tract(1)	31		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00553)|GBM - Glioblastoma multiforme(486;0.131)|Epithelial(262;0.197)		GGGACTCACTCGAGGCTGACA	0.572000													46	68					5.86059e-21	8.15829e-21	1	1	0
NEDD4L	23327	broad.mit.edu	37	18	56024480	56024480	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr18:56024480G>T	ENST00000456986.1	+	19	2000	c.1400G>T	c.(1399-1401)gGt>gTt	p.G467V	NEDD4L_ENST00000456173.2_Missense_Mutation_p.G447V|NEDD4L_ENST00000586263.1_Missense_Mutation_p.G560V|NEDD4L_ENST00000357895.5_Missense_Mutation_p.G580V|NEDD4L_ENST00000400345.3_Missense_Mutation_p.G588V|NEDD4L_ENST00000435432.2_Missense_Mutation_p.G447V|NEDD4L_ENST00000589054.1_Intron|NEDD4L_ENST00000356462.6_Missense_Mutation_p.G524V|NEDD4L_ENST00000431212.2_Missense_Mutation_p.G467V|NEDD4L_ENST00000256830.9_Missense_Mutation_p.G484V|NEDD4L_ENST00000256832.7_Missense_Mutation_p.G447V|NEDD4L_ENST00000382850.4_Missense_Mutation_p.G568V	NM_001144964.1	NP_001138436.1	Q96PU5	NED4L_HUMAN	neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase	588					cellular sodium ion homeostasis|excretion|interspecies interaction between organisms|positive regulation of endocytosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of protein catabolic process|response to metal ion|sodium ion transport|water homeostasis	cytoplasm	protein binding|sodium channel regulator activity|ubiquitin-protein ligase activity	p.G568V(1)|p.G588V(1)		breast(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(11)|ovary(1)|prostate(4)	37						GCTATTACTGGTCCGGTCAGT	0.353000													68	174					1.91123e-38	3.15352e-38	1	1	0
GDF2	2658	broad.mit.edu	37	10	48413794	48413794	+	Silent	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr10:48413794G>T	ENST00000249598.1	-	2	1233	c.1074C>A	c.(1072-1074)ggC>ggA	p.G358G		NM_016204.1	NP_057288.1	Q9UK05	GDF2_HUMAN	growth differentiation factor 2	358					activin receptor signaling pathway|BMP signaling pathway|cartilage development|cellular iron ion homeostasis|growth|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of DNA replication|negative regulation of endothelial cell proliferation|ossification|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity	p.G358G(1)		breast(1)|endometrium(2)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	28						AGAAGCAGCCGCCCTTACACT	0.572000													17	11					5.26018e-13	6.54315e-13	1	1	0
ATP1A2	477	broad.mit.edu	37	1	160100252	160100252	+	Silent	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr1:160100252G>T	ENST00000361216.3	+	13	1781	c.1692G>T	c.(1690-1692)cgG>cgT	p.R564R	ATP1A2_ENST00000472488.1_3'UTR|ATP1A2_ENST00000392233.3_Silent_p.R564R	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	564					ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	p.R564R(1)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			AGTTTCCTCGGGGCTTCAAAT	0.552000													36	37					2.01872e-29	3.03619e-29	1	1	0
IPO8	10526	broad.mit.edu	37	12	30843467	30843467	+	Silent	SNP	T	T	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr12:30843467T>A	ENST00000256079.4	-	2	467	c.129A>T	c.(127-129)atA>atT	p.I43I		NM_006390.3	NP_006381.2	O15397	IPO8_HUMAN	importin 8	43	Importin N-terminal.				intracellular protein transport|signal transduction	cytoplasm|nucleus	protein transporter activity|Ran GTPase binding	p.I43I(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(16)|liver(1)|lung(22)|prostate(2)|skin(2)|urinary_tract(2)	52	all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					GGTCAGAGACTATAATCCGAA	0.328000													63	65					0	0	1	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43895977	43895977	+	Missense_Mutation	SNP	T	T	C			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr12:43895977T>C	ENST00000389420.3	-	4	844	c.845A>G	c.(844-846)tAt>tGt	p.Y282C	ADAMTS20_ENST00000553158.1_Missense_Mutation_p.Y282C	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	282	Peptidase M12B.					proteinaceous extracellular matrix	zinc ion binding	p.Y282C(2)		breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		AGTCAGTATATAGTTTTGCAA	0.279000													10	15					0	0	1	0	0
ZNF35	7584	broad.mit.edu	37	3	44700713	44700713	+	Silent	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr3:44700713C>A	ENST00000396056.2	+	4	1093	c.858C>A	c.(856-858)gcC>gcA	p.A286A	ZNF35_ENST00000296092.3_3'UTR|ZNF35_ENST00000542250.1_Silent_p.A126A|RP11-944L7.4_ENST00000457331.1_RNA	NM_003420.3	NP_003411.3	P13682	ZNF35_HUMAN	zinc finger protein 35	286					cellular response to retinoic acid|spermatogenesis	nucleus|perinuclear region of cytoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.A286E(1)		large_intestine(3)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	12		Ovarian(412;0.0228)		OV - Ovarian serous cystadenocarcinoma(275;2.49e-27)|KIRC - Kidney renal clear cell carcinoma(197;0.0475)|Kidney(197;0.0595)		GTGGGAAAGCCTTCACTCAGA	0.408000													41	26					4.64027e-19	6.22772e-19	1	1	0
PCDH1	5097	broad.mit.edu	37	5	141244523	141244523	+	Missense_Mutation	SNP	A	A	C			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr5:141244523A>C	ENST00000287008.3	-	3	1520	c.1373T>G	c.(1372-1374)cTg>cGg	p.L458R	PCDH1_ENST00000394536.3_Missense_Mutation_p.L458R|PCDH1_ENST00000536585.1_Missense_Mutation_p.L436R|PCDH1_ENST00000503492.1_Intron|PCDH1_ENST00000511044.1_5'UTR|PCDH1_ENST00000456271.1_Missense_Mutation_p.L446R	NM_032420.2	NP_115796.2	Q08174	PCDH1_HUMAN	protocadherin 1	458	Cadherin 4.				cell-cell signaling|homophilic cell adhesion|nervous system development	cell-cell junction|integral to plasma membrane	calcium ion binding	p.L458R(1)		breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1)	51		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)		GGTAGTCTGCAGGAAATACTT	0.557000													68	293					0	0	1	0	0
IGKV1-6	28943	broad.mit.edu	37	2	89265803	89265803	+	RNA	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr2:89265803C>A	ENST00000464162.1	-	0	357																											ATCTTGTAGACAGTAATAAGT	0.522000													55	124					2.37032e-18	3.15856e-18	1	1	0
LRBA	987	broad.mit.edu	37	4	151223840	151223840	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr4:151223840C>A	ENST00000535741.1	-	53	8427	c.7954G>T	c.(7954-7956)Gat>Tat	p.D2652Y	LRBA_ENST00000510413.1_Missense_Mutation_p.D2652Y|LRBA_ENST00000357115.3_Missense_Mutation_p.D2663Y|LRBA_ENST00000503716.1_5'UTR			P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	2663						endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding	p.D2663Y(1)		breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					AGAGTTGCATCACGTGACCCT	0.423000													69	124					3.58576e-35	5.83076e-35	1	1	0
EPHA3	2042	broad.mit.edu	37	3	89456501	89456501	+	Silent	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr3:89456501C>A	ENST00000336596.2	+	8	1902	c.1677C>A	c.(1675-1677)gtC>gtA	p.V559V	EPHA3_ENST00000494014.1_Silent_p.V559V	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	559						extracellular region|integral to plasma membrane	ATP binding	p.V559V(1)		NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		TCACTGTTGTCATCTATGTTT	0.423000										TSP Lung(6;0.00050)			65	68					1.15062e-32	1.79305e-32	1	1	0
KIAA0947	23379	broad.mit.edu	37	5	5473809	5473809	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr5:5473809G>T	ENST00000296564.7	+	16	6583	c.6361G>T	c.(6361-6363)Gat>Tat	p.D2121Y		NM_015325.2	NP_056140.1	Q9Y2F5	K0947_HUMAN	KIAA0947	2121								p.D2121Y(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						ATTTGCCATTGATCTGCTCTG	0.333000													11	27					2.32078e-09	2.70678e-09	1	1	0
OR4C15	81309	broad.mit.edu	37	11	55322592	55322592	+	Silent	SNP	C	C	G			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr11:55322592C>G	ENST00000314644.2	+	1	810	c.810C>G	c.(808-810)tcC>tcG	p.S270S		NM_001001920.1	NP_001001920.1	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C, member 15	216					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S270S(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						TGCTTGTCTCCTATGCTGTCA	0.468000										HNSCC(20;0.049)			271	398					0	0	1	0	0
UGT2B28	54490	broad.mit.edu	37	4	70152489	70152489	+	Missense_Mutation	SNP	A	A	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr4:70152489A>T	ENST00000335568.5	+	3	892	c.890A>T	c.(889-891)cAg>cTg	p.Q297L	UGT2B28_ENST00000511240.1_Missense_Mutation_p.Q297L	NM_053039.1	NP_444267.1	Q9BY64	UDB28_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B28	297					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	p.Q297L(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31					Flunitrazepam(DB01544)	GAATTTGTACAGAGCTCTGGT	0.403000													77	224					0	0	1	0	0
SOX5	6660	broad.mit.edu	37	12	23689448	23689448	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr12:23689448C>T	ENST00000546136.1	-	13	1890	c.1888G>A	c.(1888-1890)Ggt>Agt	p.G630S	SOX5_ENST00000396007.2_Missense_Mutation_p.G257S|SOX5_ENST00000381381.2_Missense_Mutation_p.G522S|SOX5_ENST00000545921.1_Missense_Mutation_p.G633S|SOX5_ENST00000537393.1_Missense_Mutation_p.G608S|SOX5_ENST00000541536.1_Missense_Mutation_p.G522S|SOX5_ENST00000451604.2_Missense_Mutation_p.G643S|SOX5_ENST00000309359.1_Missense_Mutation_p.G630S			P35711	SOX5_HUMAN	SRY (sex determining region Y)-box 5	643					transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	p.G643S(1)		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						TTGTATTCACCAATGCGCAGC	0.507000													39	80					0	0	1	0	0
BMP4	652	broad.mit.edu	37	14	54417449	54417449	+	Silent	SNP	G	G	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr14:54417449G>A	ENST00000245451.4	-	4	921	c.528C>T	c.(526-528)caC>caT	p.H176H	BMP4_ENST00000417573.1_Silent_p.H176H|BMP4_ENST00000558984.1_Silent_p.H176H|BMP4_ENST00000559087.1_Silent_p.H176H	NM_001202.3	NP_001193.2	P12644	BMP4_HUMAN	bone morphogenetic protein 4	176					activation of MAPKK activity|blood vessel endothelial cell proliferation involved in sprouting angiogenesis|BMP signaling pathway involved in heart induction|BMP signaling pathway involved in nephric duct formation|branching involved in ureteric bud morphogenesis|bronchus development|bud dilation involved in lung branching|cardiac septum development|cartilage development|endocardial cushion development|epithelial cell proliferation involved in lung morphogenesis|intermediate mesodermal cell differentiation|lung alveolus development|lymphoid progenitor cell differentiation|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesonephros development|negative regulation of branch elongation involved in ureteric bud branching by BMP signaling pathway|negative regulation of branching involved in ureteric bud morphogenesis|negative regulation of cell proliferation involved in heart morphogenesis|negative regulation of glomerular mesangial cell proliferation|negative regulation of glomerulus development|negative regulation of immature T cell proliferation in thymus|negative regulation of MAP kinase activity|negative regulation of metanephric comma-shaped body morphogenesis|negative regulation of metanephric S-shaped body morphogenesis|negative regulation of mitosis|negative regulation of myoblast differentiation|negative regulation of phosphorylation|negative regulation of striated muscle tissue development|negative regulation of thymocyte apoptosis|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cardiac muscle fiber development|positive regulation of cartilage development|positive regulation of collagen biosynthetic process|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of kidney development|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of smooth muscle cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|protein localization to nucleus|pulmonary artery endothelial tube morphogenesis|secondary heart field specification|SMAD protein signal transduction|specification of ureteric bud anterior/posterior symmetry by BMP signaling pathway|steroid hormone mediated signaling pathway	extracellular space|proteinaceous extracellular matrix	BMP receptor binding|chemoattractant activity|cytokine activity|growth factor activity	p.H176H(1)		breast(1)|endometrium(3)|large_intestine(2)|lung(9)|prostate(3)|urinary_tract(1)	19						TGTTTATACGGTGGAAGCCCC	0.562000													5	25					0	0	1	0	0
TENM4	26011	broad.mit.edu	37	11	78412653	78412653	+	Nonsense_Mutation	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr11:78412653C>A	ENST00000278550.7	-	28	5467	c.5005G>T	c.(5005-5007)Gag>Tag	p.E1669*		NM_001098816.2	NP_001092286.2			teneurin transmembrane protein 4									p.E1669*(2)									ATGGCCAACTCGTGTCCTTGT	0.507000													14	65					9.16793e-09	1.0561e-08	1	1	0
VRK2	7444	broad.mit.edu	37	2	58350345	58350345	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr2:58350345G>T	ENST00000435505.2	+	11	1398	c.653G>T	c.(652-654)aGc>aTc	p.S218I	VRK2_ENST00000340157.4_Missense_Mutation_p.S218I|VRK2_ENST00000417641.2_Missense_Mutation_p.S218I|VRK2_ENST00000440705.2_Missense_Mutation_p.S195I|VRK2_ENST00000412104.2_Missense_Mutation_p.S218I			Q86Y07	VRK2_HUMAN	vaccinia related kinase 2	218	Protein kinase.					integral to membrane	ATP binding|protein binding|protein serine/threonine kinase activity	p.S218I(1)		endometrium(4)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)	24						GAGTTTACCAGCTTGGATGCC	0.388000													66	124					3.83446e-41	6.45985e-41	1	1	0
PROC	5624	broad.mit.edu	37	2	128186390	128186390	+	Silent	SNP	C	C	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr2:128186390C>T	ENST00000453608.2	+	8	1427	c.1419C>T	c.(1417-1419)ggC>ggT	p.G473G	PROC_ENST00000409048.1_Silent_p.G452G|PROC_ENST00000422777.3_Silent_p.G418G|PROC_ENST00000234071.3_Silent_p.G418G			P04070	PROC_HUMAN	protein C (inactivator of coagulation factors Va and VIIIa)	418					blood coagulation|leukocyte migration|negative regulation of apoptosis|negative regulation of blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|Golgi lumen|plasma membrane	calcium ion binding|protein binding|serine-type endopeptidase activity	p.G418G(1)		endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)	15	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0673)	Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)|Sodium Tetradecyl Sulfate(DB00464)	TCCTGGTGGGCCTGGTGAGCT	0.647000													13	18					0	0	1	0	0
MXRA5	25878	broad.mit.edu	37	X	3235270	3235270	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chrX:3235270G>T	ENST00000217939.6	-	6	6606	c.6452C>A	c.(6451-6453)aCc>aAc	p.T2151N		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2151	Ig-like C2-type 6.					extracellular region		p.T2151N(2)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CCGCGGGGAGGTGCCCGTGAT	0.711000													18	4					8.24728e-16	1.05392e-15	1	1	0
NPY2R	4887	broad.mit.edu	37	4	156135190	156135190	+	Silent	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr4:156135190C>A	ENST00000329476.3	+	2	588	c.99C>A	c.(97-99)gtC>gtA	p.V33V	NPY2R_ENST00000506608.1_Silent_p.V33V	NM_000910.2	NP_000901.1	P49146	NPY2R_HUMAN	neuropeptide Y receptor Y2	33					cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis	integral to plasma membrane	calcium channel regulator activity	p.P34T(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1)	36	all_hematologic(180;0.24)	Renal(120;0.0854)				GTGAACTGGTCCCTGACCCTG	0.473000													32	71					2.42023e-17	3.17974e-17	1	1	0
CCDC63	160762	broad.mit.edu	37	12	111321993	111321993	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr12:111321993C>A	ENST00000308208.5	+	8	1255	c.1013C>A	c.(1012-1014)aCg>aAg	p.T338K	CCDC63_ENST00000545036.1_Missense_Mutation_p.T298K|CCDC63_ENST00000552694.1_Missense_Mutation_p.T259K	NM_152591.1	NP_689804.1	Q8NA47	CCD63_HUMAN	coiled-coil domain containing 63	338								p.T338K(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(1)	39						GCTCGGTTCACGTATGTCACG	0.562000													49	114					5.47352e-35	8.8747e-35	1	1	0
SRRM4	84530	broad.mit.edu	37	12	119554754	119554754	+	Nonsense_Mutation	SNP	T	T	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr12:119554754T>A	ENST00000267260.4	+	4	766	c.378T>A	c.(376-378)taT>taA	p.Y126*	RP11-364C11.2_ENST00000537730.1_RNA	NM_194286.3	NP_919262.2	A7MD48	SRRM4_HUMAN	serine/arginine repetitive matrix 4	126	Lys-rich.|Ser-rich.				cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding	p.Y126*(2)|p.Y223*(1)		breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						CCTCATCCTATAGCCCATCGC	0.473000													11	45					0	0	1	0	0
CASS4	57091	broad.mit.edu	37	20	55012236	55012236	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr20:55012236C>A	ENST00000371336.3	+	2	254	c.53C>A	c.(52-54)gCa>gAa	p.A18E	CASS4_ENST00000434344.1_Missense_Mutation_p.A18E|CASS4_ENST00000360314.3_Missense_Mutation_p.A18E	NM_001164114.1|NM_020356.3	NP_001157586.1|NP_065089.2	Q9NQ75	CASS4_HUMAN	Cas scaffolding protein family member 4	18	SH3.				cell adhesion	cytoplasm|cytoskeleton|focal adhesion	two-component sensor activity	p.A18E(1)		breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	54						CTGGCCAGGGCACTTTATGAC	0.557000													83	130					7.4264e-54	1.30602e-53	1	1	0
PIK3CG	5294	broad.mit.edu	37	7	106509787	106509787	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr7:106509787G>A	ENST00000359195.3	+	2	2091	c.1781G>A	c.(1780-1782)aGt>aAt	p.S594N	PIK3CG_ENST00000496166.1_Missense_Mutation_p.S594N|PIK3CG_ENST00000440650.2_Missense_Mutation_p.S594N	NM_002649.2	NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	594					G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding	p.S594N(1)		breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						AAGCTATTTAGTTCAGTGAAA	0.428000													32	80					0	0	1	0	0
HS3ST1	9957	broad.mit.edu	37	4	11401489	11401489	+	Silent	SNP	T	T	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr4:11401489T>A	ENST00000002596.5	-	2	1315	c.141A>T	c.(139-141)ccA>ccT	p.P47P		NM_005114.2	NP_005105.1	O14792	HS3S1_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 1	47						Golgi lumen|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity	p.P47P(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|skin(3)	15						CAGAGCCGTTTGGGGCCACGC	0.692000													11	16					0	0	1	0	0
TRPC6	7225	broad.mit.edu	37	11	101359765	101359765	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr11:101359765C>T	ENST00000344327.3	-	4	1620	c.1196G>A	c.(1195-1197)cGa>cAa	p.R399Q	TRPC6_ENST00000360497.4_Intron|TRPC6_ENST00000532133.1_Missense_Mutation_p.R399Q|TRPC6_ENST00000348423.4_Intron	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel, subfamily C, member 6	399					axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding	p.R399Q(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		TGTCTGCTGTCGTAAACCAGA	0.448000													9	34					0	0	1	0	0
CXXC1	30827	broad.mit.edu	37	18	47810186	47810186	+	Splice_Site	SNP	C	C	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr18:47810186C>T	ENST00000285106.6	-	11	2128		c.e11-1		CXXC1_ENST00000412036.2_Splice_Site|CXXC1_ENST00000589940.1_Splice_Site	NM_001101654.1|NM_014593.3	NP_001095124.1|NP_055408.2	Q9P0U4	CXXC1_HUMAN	CXXC finger protein 1						histone H3-K4 methylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck|Set1C/COMPASS complex	protein binding|unmethylated CpG binding|zinc ion binding	p.?(1)		autonomic_ganglia(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	24						CCTCGTTGCTCTGCATGGAAT	0.577000													27	429					0	0	1	0	0
BCAS3	54828	broad.mit.edu	37	17	59161869	59161869	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr17:59161869C>T	ENST00000589222.1	+	22	2437	c.2369C>T	c.(2368-2370)tCa>tTa	p.S790L	BCAS3_ENST00000390652.5_Missense_Mutation_p.S805L|BCAS3_ENST00000588462.1_Missense_Mutation_p.S805L|BCAS3_ENST00000407086.3_Missense_Mutation_p.S790L|BCAS3_ENST00000585744.1_Missense_Mutation_p.S576L|BCAS3_ENST00000588874.1_Missense_Mutation_p.S561L|BCAS3_ENST00000408905.3_Missense_Mutation_p.S790L			Q9H6U6	BCAS3_HUMAN	breast carcinoma amplified sequence 3	805						nucleus		p.S805L(1)		NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44			BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)			ATGCCAGGGTCATCCCGTCCA	0.473000													21	82					0	0	1	0	0
ARHGAP12	94134	broad.mit.edu	37	10	32197269	32197269	+	Missense_Mutation	SNP	T	T	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr10:32197269T>A	ENST00000375250.5	-	3	756	c.515A>T	c.(514-516)aAt>aTt	p.N172I	ARHGAP12_ENST00000396144.4_Missense_Mutation_p.N172I|ARHGAP12_ENST00000375245.4_Missense_Mutation_p.N172I|ARHGAP12_ENST00000311380.4_Missense_Mutation_p.N172I|ARHGAP12_ENST00000344936.2_Missense_Mutation_p.N172I	NM_001270696.1	NP_001257625.1	Q8IWW6	RHG12_HUMAN	Rho GTPase activating protein 12	172					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	p.N172I(1)		NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(11)|lung(10)|skin(1)|urinary_tract(2)	31		Prostate(175;0.0199)				GCGTGTCCTATTCTGGCTGGA	0.443000													133	247					0	0	1	0	0
RABGAP1	23637	broad.mit.edu	37	9	125748687	125748687	+	Missense_Mutation	SNP	A	A	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr9:125748687A>T	ENST00000373647.4	+	4	713	c.579A>T	c.(577-579)gaA>gaT	p.E193D		NM_012197.3	NP_036329.3	Q9Y3P9	RBGP1_HUMAN	RAB GTPase activating protein 1	193	PID.				cell cycle	centrosome|cytosol|microtubule associated complex	Rab GTPase activator activity|tubulin binding	p.E121D(1)|p.E193D(1)		breast(3)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|prostate(4)|stomach(3)|upper_aerodigestive_tract(1)	41						ATGTGTCTGAAGGAATTGTGA	0.403000													183	214					0	0	1	0	0
WDR93	56964	broad.mit.edu	37	15	90245192	90245192	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr15:90245192G>T	ENST00000268130.7	+	2	316	c.215G>T	c.(214-216)tGg>tTg	p.W72L	WDR93_ENST00000560294.1_Missense_Mutation_p.W72L|WDR93_ENST00000558000.1_Missense_Mutation_p.W72L	NM_020212.1	NP_064597.1	Q6P2C0	WDR93_HUMAN	WD repeat domain 93	72					electron transport chain	mitochondrial inner membrane	oxidoreductase activity, acting on NADH or NADPH	p.W72L(1)		NS(1)|breast(3)|endometrium(2)|kidney(4)|large_intestine(5)|liver(2)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	33	Lung NSC(78;0.0237)|all_lung(78;0.0478)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|BRCA - Breast invasive adenocarcinoma(143;0.128)			GACCAGTCTTGGGAAATTATT	0.502000													42	59					9.39024e-22	1.32028e-21	1	1	0
SNTG2	54221	broad.mit.edu	37	2	1168851	1168851	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr2:1168851C>A	ENST00000308624.5	+	8	702	c.573C>A	c.(571-573)aaC>aaA	p.N191K	SNTG2_ENST00000467759.1_3'UTR|SNTG2_ENST00000407292.1_Intron	NM_018968.3	NP_061841.2	Q9NY99	SNTG2_HUMAN	syntrophin, gamma 2	191					central nervous system development	cytoplasm|cytoskeleton|sarcolemma|syntrophin complex	actin binding|PDZ domain binding	p.N191K(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		TGCATCTGAACGGAAACTCCA	0.448000													161	338					4.95515e-46	8.44935e-46	1	1	0
MIR509-3	100126337	broad.mit.edu	37	X	146341225	146341225	+	RNA	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chrX:146341225C>A	ENST00000390725.1	-	0	19					NR_030629.1																						ATGATTGCCACGTCTGCAGTA	0.443000													380	368					6.74202e-176	1.31787e-175	1	1	0
ANK2	287	broad.mit.edu	37	4	114158753	114158753	+	Splice_Site	SNP	A	A	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr4:114158753A>T	ENST00000357077.4	+	7	722		c.e7-1		ANK2_ENST00000264366.6_Splice_Site|ANK2_ENST00000394537.3_Splice_Site|ANK2_ENST00000506722.1_Splice_Site	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal						axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	p.?(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		ACACTGCTTCAGATGATGGTG	0.363000													41	62					0	0	1	0	0
DCDC2B	149069	broad.mit.edu	37	1	32678391	32678391	+	Silent	SNP	G	G	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr1:32678391G>A	ENST00000409358.1	+	6	711	c.711G>A	c.(709-711)caG>caA	p.Q237Q		NM_001099434.1	NP_001092904.1	A2VCK2	DCD2B_HUMAN	doublecortin domain containing 2B	237					intracellular signal transduction			p.Q237Q(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)	11		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				CCCACAGGCAGGGGGTAGGTG	0.557000													12	44					0	0	1	0	0
LDB3	11155	broad.mit.edu	37	10	88478508	88478508	+	Missense_Mutation	SNP	A	A	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr10:88478508A>T	ENST00000429277.2	+	12	2042	c.1897A>T	c.(1897-1899)Aca>Tca	p.T633S	LDB3_ENST00000361373.4_Missense_Mutation_p.T628S|LDB3_ENST00000458213.2_Missense_Mutation_p.T518S|LDB3_ENST00000263066.6_Missense_Mutation_p.T518S|LDB3_ENST00000352360.5_Missense_Mutation_p.T371S	NM_001171610.1	NP_001165081.1	O75112	LDB3_HUMAN	LIM domain binding 3	628	LIM zinc-binding 2.					cytoskeleton|perinuclear region of cytoplasm|pseudopodium	zinc ion binding	p.T628S(1)|p.T633S(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|soft_tissue(1)	25						CTTGAGACAGACATGGCACAC	0.577000													34	53					0	0	1	0	0
KLF4	9314	broad.mit.edu	37	9	110248160	110248160	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr9:110248160C>A	ENST00000374672.4	-	5	1785	c.1312G>T	c.(1312-1314)Gcc>Tcc	p.A438S		NM_004235.4	NP_004226.3	O43474	KLF4_HUMAN	Kruppel-like factor 4 (gut)	472					fat cell differentiation|mesodermal cell fate determination|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|stem cell maintenance|transcription from RNA polymerase II promoter	nucleus	RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor recruiting transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	p.A429S(1)		breast(1)|central_nervous_system(3)|endometrium(5)|large_intestine(1)|lung(3)|pancreas(1)|prostate(2)	16						TCTGAGCGGGCGAATTTCCAT	0.493000													7	40					3.86212e-05	4.15864e-05	1	1	0
KIAA0391	9692	broad.mit.edu	37	14	35596743	35596743	+	Translation_Start_Site	SNP	T	T	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr14:35596743T>A	ENST00000605870.1	+	0	296				KIAA0391_ENST00000603588.1_3'UTR|KIAA0391_ENST00000534898.4_Missense_Mutation_p.Y365N|KIAA0391_ENST00000250377.7_Missense_Mutation_p.Y270N|KIAA0391_ENST00000603544.1_Missense_Mutation_p.Y349N|KIAA0391_ENST00000604948.1_Missense_Mutation_p.Y270N|KIAA0391_ENST00000321130.10_Missense_Mutation_p.Y349N|KIAA0391_ENST00000557565.1_Missense_Mutation_p.Y365N	NM_001256680.1|NM_001256681.1	NP_001243609.1|NP_001243610.1	O15091	MRRP3_HUMAN	KIAA0391						tRNA processing	mitochondrion		p.Y365N(1)		central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	14	Breast(36;0.0545)|Hepatocellular(127;0.158)|Prostate(35;0.184)		Lung(238;2.93e-05)|LUAD - Lung adenocarcinoma(48;3.86e-05)|Epithelial(34;0.0114)|all cancers(34;0.0277)	GBM - Glioblastoma multiforme(112;0.0593)		TCCAGAAGAATATGAATGTCT	0.363000													41	187					0	0	1	0	0
TCF4	6925	broad.mit.edu	37	18	52896212	52896212	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr18:52896212C>A	ENST00000354452.3	-	18	2356	c.1745G>T	c.(1744-1746)cGt>cTt	p.R582L	TCF4_ENST00000568673.1_Missense_Mutation_p.R558L|TCF4_ENST00000544241.2_Missense_Mutation_p.R511L|TCF4_ENST00000398339.1_Missense_Mutation_p.R684L|TCF4_ENST00000567880.1_Missense_Mutation_p.R518L|TCF4_ENST00000564999.1_Missense_Mutation_p.R578L|TCF4_ENST00000566279.1_Missense_Mutation_p.R522L|TCF4_ENST00000568740.1_Missense_Mutation_p.R553L|TCF4_ENST00000537856.3_Missense_Mutation_p.R448L|TCF4_ENST00000566286.1_Missense_Mutation_p.R575L|TCF4_ENST00000540999.1_Missense_Mutation_p.R554L|TCF4_ENST00000537578.1_Missense_Mutation_p.R558L|TCF4_ENST00000356073.4_Missense_Mutation_p.R578L|TCF4_ENST00000561992.1_Missense_Mutation_p.R448L|TCF4_ENST00000564228.1_Missense_Mutation_p.R507L|TCF4_ENST00000565018.2_Missense_Mutation_p.R582L|TCF4_ENST00000570287.2_Missense_Mutation_p.R418L|TCF4_ENST00000543082.1_Missense_Mutation_p.R536L|TCF4_ENST00000570177.2_Missense_Mutation_p.R448L|TCF4_ENST00000561831.3_Missense_Mutation_p.R418L|TCF4_ENST00000457482.3_Missense_Mutation_p.R422L|TCF4_ENST00000564403.2_Missense_Mutation_p.R588L	NM_001083962.1	NP_001077431.1	P15884	ITF2_HUMAN	transcription factor 4	578	Helix-loop-helix motif.				positive regulation of neuron differentiation|protein-DNA complex assembly|transcription initiation from RNA polymerase II promoter	transcription factor complex	E-box binding|protein C-terminus binding|protein heterodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity|TFIIB-class binding transcription factor activity|TFIIB-class transcription factor binding	p.R578L(1)|p.R684L(1)		breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	41				Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718)		GTTGATGTCACGGACCCGCAG	0.592000													109	168					1.95696e-54	3.47422e-54	1	1	0
SIK3	23387	broad.mit.edu	37	11	116728895	116728895	+	Nonsense_Mutation	SNP	G	G	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr11:116728895G>A	ENST00000375300.1	-	20	3147	c.3142C>T	c.(3142-3144)Caa>Taa	p.Q1048*	SIK3_ENST00000434315.2_Nonsense_Mutation_p.Q829*|SIK3_ENST00000488337.1_5'UTR|SIK3_ENST00000446921.2_Nonsense_Mutation_p.Q988*|SIK3_ENST00000292055.4_Nonsense_Mutation_p.Q990*|SIK3_ENST00000375288.1_Nonsense_Mutation_p.Q325*|SIK3_ENST00000542607.1_Nonsense_Mutation_p.Q930*			Q9Y2K2	SIK3_HUMAN	SIK family kinase 3	990						cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	p.Q1096*(1)		breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						TCAGCATTTTGATAAGATAAA	0.552000													9	37					0	0	1	0	0
C14orf177	283598	broad.mit.edu	37	14	99182659	99182659	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr14:99182659C>T	ENST00000325812.2	+	3	550	c.131C>T	c.(130-132)tCt>tTt	p.S44F		NM_182560.2	NP_872366.2	Q52M58	CN177_HUMAN	chromosome 14 open reading frame 177	44								p.S44F(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(10)	13		Melanoma(154;0.128)				TGCCCAAGTTCTCAGCACCTG	0.532000													48	81					0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21224784	21224784	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr2:21224784C>T	ENST00000233242.1	-	29	13637	c.13510G>A	c.(13510-13512)Gac>Aac	p.D4504N		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	4504					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	p.D4504N(1)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	GAGAGTTGGTCTGAAAAATCT	0.358000													18	49					0	0	1	0	0
ERCC6L2	375748	broad.mit.edu	37	9	98678647	98678647	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr9:98678647G>T	ENST00000288985.7	+	6	1427	c.1122G>T	c.(1120-1122)aaG>aaT	p.K374N	ERCC6L2_ENST00000437817.1_Missense_Mutation_p.K185N|ERCC6L2_ENST00000466840.1_3'UTR	NM_001010895.2	NP_001010895.1	Q5T890	RAD26_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 6-like 2	374					DNA repair	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding	p.K374N(1)									TTGCCAAAAAGATGTCTGGCT	0.453000													40	49					2.68985e-26	3.93996e-26	1	1	0
RYR2	6262	broad.mit.edu	37	1	237664075	237664075	+	Silent	SNP	T	T	C			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr1:237664075T>C	ENST00000366574.2	+	21	2585	c.2268T>C	c.(2266-2268)agT>agC	p.S756S	RYR2_ENST00000360064.6_Silent_p.S754S|RYR2_ENST00000542537.1_Silent_p.S740S	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	756	B30.2/SPRY 1.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.S754S(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			ATGTCATCAGTTGCTGTTTAG	0.413000													191	558					0	0	1	0	0
KLHDC7B	113730	broad.mit.edu	37	22	50987690	50987690	+	Silent	SNP	C	C	T	rs147168342	byFrequency	TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr22:50987690C>T	ENST00000395676.2	+	1	1229	c.1095C>T	c.(1093-1095)tcC>tcT	p.S365S		NM_138433.3	NP_612442.2	Q96G42	KLD7B_HUMAN	kelch domain containing 7B	365								p.S266S(1)		central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	14		all_cancers(38;1.53e-10)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		OV - Ovarian serous cystadenocarcinoma(4;7.49e-69)|all cancers(3;9.79e-66)|Epithelial(4;1.3e-63)|GBM - Glioblastoma multiforme(4;0.000399)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		TCCGTGGCTCCGGTGCCAAGG	0.672000													2	1					0	0	1	0	0
KIF16B	55614	broad.mit.edu	37	20	16348432	16348432	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr20:16348432C>A	ENST00000408042.1	-	23	3695	c.3538G>T	c.(3538-3540)Gat>Tat	p.D1180Y	KIF16B_ENST00000354981.2_Intron|KIF16B_ENST00000378003.2_Intron|KIF16B_ENST00000355755.3_Intron	NM_001199866.1	NP_001186795.1	Q96L93	KI16B_HUMAN	kinesin family member 16B	0					cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity	p.D1180Y(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						GCAGCGGCATCAGGCTCTGGC	0.488000													29	45					5.71845e-15	7.25803e-15	1	1	0
PCDHB4	56131	broad.mit.edu	37	5	140502607	140502607	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr5:140502607C>A	ENST00000194152.1	+	1	1027	c.1027C>A	c.(1027-1029)Ccc>Acc	p.P343T		NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN		343	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding	p.P343T(1)		autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GAATGACAATCCCCCAGAACT	0.443000													71	212					6.44082e-31	9.81875e-31	1	1	0
NLRP4	147945	broad.mit.edu	37	19	56392837	56392837	+	Splice_Site	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr19:56392837C>A	ENST00000301295.6	+	10	3291	c.2867_splice	c.e10-1	p.L957_splice	NLRP4_ENST00000587891.1_Splice_Site_p.L882_splice|NLRP4_ENST00000346986.5_Splice_Site_p.L901_splice	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	957				L -> P (in Ref. 4; AAL88672).			ATP binding	p.L957M(1)		breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		TTTTACCAGGCTGAGAAAAAC	0.418000													13	18					1.67942e-08	1.93064e-08	1	1	0
ARFGEF1	10565	broad.mit.edu	37	8	68208800	68208800	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr8:68208800C>A	ENST00000262215.3	-	5	894	c.505G>T	c.(505-507)Ggg>Tgg	p.G169W		NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	169					exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding	p.G169W(1)		breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			AGTACAGTCCCTTCATGAATT	0.328000													38	78					5.04308e-16	6.47407e-16	1	1	0
ABCC10	89845	broad.mit.edu	37	6	43400557	43400557	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr6:43400557C>T	ENST00000244533.3	+	1	1069	c.710C>T	c.(709-711)gCc>gTc	p.A237V	ABCC10_ENST00000443426.2_Intron|ABCC10_ENST00000372530.4_Missense_Mutation_p.A280V	NM_033450.2	NP_258261.2	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	280						integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	p.A237V(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			TTGTATGGGGCCTTTGGACGG	0.622000													8	9					0	0	1	0	0
UHRF1BP1L	23074	broad.mit.edu	37	12	100444041	100444041	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr12:100444041C>A	ENST00000279907.7	-	17	3835	c.3623G>T	c.(3622-3624)gGg>gTg	p.G1208V	UHRF1BP1L_ENST00000545232.2_Missense_Mutation_p.G858V	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN	UHRF1 binding protein 1-like	1208								p.G1208V(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						TGTATCTTCCCCTCGGATGTC	0.388000													17	49					4.7796e-09	5.55147e-09	1	1	0
PCDHA4	56144	broad.mit.edu	37	5	140188720	140188720	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr5:140188720C>A	ENST00000530339.1	+	1	1948	c.1948C>A	c.(1948-1950)Ctg>Atg	p.L650M	PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Missense_Mutation_p.L650M|PCDHA4_ENST00000356878.4_Missense_Mutation_p.L650M	NM_018907.2	NP_061730.1												p.L650M(2)		breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTACTGGTACTGGTGAAGGA	0.677000													43	36					5.73332e-34	9.08585e-34	1	1	0
CHL1	10752	broad.mit.edu	37	3	433422	433422	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr3:433422G>T	ENST00000256509.2	+	23	3498	c.2856G>T	c.(2854-2856)tgG>tgT	p.W952C	CHL1_ENST00000397491.2_Missense_Mutation_p.W936C	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	O00533	CHL1_HUMAN	cell adhesion molecule L1-like	936	Fibronectin type-III 4.				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix		p.W952C(1)		NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		CTTTATCTTGGGGACTACCTA	0.323000													40	21					6.07928e-31	9.29284e-31	1	1	0
PLCXD2	257068	broad.mit.edu	37	3	111427042	111427042	+	Nonsense_Mutation	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr3:111427042G>T	ENST00000393934.3	+	2	1003	c.433G>T	c.(433-435)Gaa>Taa	p.E145*	PLCXD2_ENST00000477665.1_Nonsense_Mutation_p.E145*	NM_153268.3	NP_695000.1	Q0VAA5	PLCX2_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 2	145	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity	p.E145*(1)		endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)	17						TGGGCTGATGGAAATTGACTC	0.493000													39	100					4.64027e-19	6.22772e-19	1	1	0
PROX1	5629	broad.mit.edu	37	1	214170382	214170382	+	Silent	SNP	G	G	C			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr1:214170382G>C	ENST00000366958.4	+	2	1112	c.504G>C	c.(502-504)cgG>cgC	p.R168R	PROX1_ENST00000261454.4_Silent_p.R168R|PROX1_ENST00000498508.2_Silent_p.R168R|PROX1_ENST00000435016.1_Silent_p.R168R	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN	prospero homeobox 1	168					aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis	cytoplasm|nucleus	DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding	p.R168R(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		AGCGCGCCCGGGTTGAGAATA	0.532000													14	58					0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77767417	77767417	+	Missense_Mutation	SNP	A	A	G			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr8:77767417A>G	ENST00000521891.2	+	10	8708	c.8260A>G	c.(8260-8262)Aca>Gca	p.T2754A	ZFHX4_ENST00000455469.2_Missense_Mutation_p.T2709A|ZFHX4_ENST00000050961.6_Missense_Mutation_p.T2709A|ZFHX4_ENST00000518282.1_Missense_Mutation_p.T2728A	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2709						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.T2738A(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TACAGTGTCAACACCTGTTAG	0.383000										HNSCC(33;0.089)			28	43					0	0	1	0	0
NR6A1	2649	broad.mit.edu	37	9	127300525	127300525	+	Nonsense_Mutation	SNP	G	G	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr9:127300525G>A	ENST00000487099.2	-	6	827	c.670C>T	c.(670-672)Caa>Taa	p.Q224*	NR6A1_ENST00000373584.3_Nonsense_Mutation_p.Q220*|NR6A1_ENST00000344523.4_Nonsense_Mutation_p.Q223*|NR6A1_ENST00000416460.2_Nonsense_Mutation_p.Q219*	NM_001278546.1	NP_001265475.1	Q15406	NR6A1_HUMAN	nuclear receptor subfamily 6, group A, member 1	224	Sufficient for interaction with UIMC1 (By similarity).				cell proliferation|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|spermatogenesis	transcription factor complex	protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	p.Q224*(1)		NS(1)|breast(1)|cervix(1)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	17						GGTATATATTGGTAATGTGGA	0.488000													74	69					0	0	1	0	0
OR10W1	81341	broad.mit.edu	37	11	58034994	58034994	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr11:58034994G>T	ENST00000395079.2	-	1	738	c.337C>A	c.(337-339)Cgc>Agc	p.R113S		NM_207374.3	NP_997257.2	Q8NGF6	O10W1_HUMAN	olfactory receptor, family 10, subfamily W, member 1	113					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R113S(1)		kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(1)	26		Breast(21;0.0589)				GCCACATAGCGGTCATAGGCC	0.532000													69	90					7.79919e-48	1.35042e-47	1	1	0
B3GNT5	84002	broad.mit.edu	37	3	182988136	182988136	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr3:182988136C>T	ENST00000326505.3	+	2	1080	c.550C>T	c.(550-552)Cca>Tca	p.P184S	B3GNT5_ENST00000460419.1_Missense_Mutation_p.P184S|MCF2L2_ENST00000473233.1_Intron|MCF2L2_ENST00000328913.3_Intron|MCF2L2_ENST00000447025.2_Intron|B3GNT5_ENST00000465010.1_Missense_Mutation_p.P184S	NM_032047.4	NP_114436.1	Q9BYG0	B3GN5_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 5	184					central nervous system development|glycolipid biosynthetic process|protein glycosylation	Golgi membrane|integral to membrane	beta-galactosyl-N-acetylglucosaminylgalactosylglucosyl-ceramide beta-1,3-acetylglucosaminyltransferase activity|galactosyltransferase activity	p.P184S(1)		endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	8	all_cancers(143;8.52e-13)|Ovarian(172;0.0355)		all cancers(12;4.52e-44)|Epithelial(37;8.82e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			TACCTATTGTCCACATGCCAA	0.333000													7	151					0	0	1	0	0
GRIN3A	116443	broad.mit.edu	37	9	104448937	104448937	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr9:104448937G>T	ENST00000361820.3	-	2	1845	c.1245C>A	c.(1243-1245)agC>agA	p.S415R		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	415					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding	p.S415R(1)		breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	AGTTCATCGTGCTGGGAATGA	0.478000													62	240					8.07507e-42	1.36449e-41	1	1	0
TMEM66	51669	broad.mit.edu	37	8	29927564	29927564	+	Silent	SNP	C	C	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr8:29927564C>T	ENST00000256255.6	-	3	551	c.294G>A	c.(292-294)aaG>aaA	p.K98K	TMEM66_ENST00000536273.1_5'UTR|TMEM66_ENST00000545648.1_5'UTR	NM_016127.4	NP_057211.4	Q96BY9	TMM66_HUMAN	transmembrane protein 66	98						integral to membrane		p.K98K(1)		endometrium(2)|large_intestine(1)|lung(11)	14				KIRC - Kidney renal clear cell carcinoma(542;0.0993)|Kidney(114;0.119)		CTAAGTCCGTCTTACATTCCC	0.398000													11	163					0	0	1	0	0
ZG16B	124220	broad.mit.edu	37	16	2881957	2881957	+	Missense_Mutation	SNP	T	T	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr16:2881957T>A	ENST00000382280.3	+	4	503	c.424T>A	c.(424-426)Tat>Aat	p.Y142N	ZG16B_ENST00000572863.1_Missense_Mutation_p.Y112N	NM_145252.2	NP_660295.2	Q96DA0	ZG16B_HUMAN	zymogen granule protein 16B	142						extracellular region	sugar binding	p.Y142N(1)		central_nervous_system(1)|lung(2)|ovary(1)|prostate(1)	5						CAAGGACCGCTATTTCTATTT	0.542000													8	13					0	0	1	0	0
PTH2R	5746	broad.mit.edu	37	2	209302298	209302298	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr2:209302298G>T	ENST00000272847.2	+	3	428	c.215G>T	c.(214-216)tGt>tTt	p.C72F	PTH2R_ENST00000413482.1_3'UTR	NM_005048.2	NP_005039.1	P49190	PTH2R_HUMAN	parathyroid hormone 2 receptor	72						integral to plasma membrane	parathyroid hormone receptor activity	p.C72F(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(21)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43				Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)		GGACTCATTTGTTGGCCCAGA	0.333000													24	42					3.90053e-15	4.96189e-15	1	1	0
ELP5	23587	broad.mit.edu	37	17	7160226	7160226	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr17:7160226G>A	ENST00000574993.1	+	5	725	c.508G>A	c.(508-510)Gag>Aag	p.E170K	ELP5_ENST00000354429.2_Missense_Mutation_p.E170K|RP1-4G17.5_ENST00000577138.1_Intron|ELP5_ENST00000396627.2_Missense_Mutation_p.E170K|ELP5_ENST00000396628.2_Missense_Mutation_p.E170K|ELP5_ENST00000356683.2_Missense_Mutation_p.E170K					elongator acetyltransferase complex subunit 5									p.E170K(2)									GCTACATGAAGAGCTTCATGG	0.582000													6	50					0	0	1	0	0
NGDN	25983	broad.mit.edu	37	14	23938924	23938924	+	Translation_Start_Site	SNP	G	G	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr14:23938924G>A	ENST00000397154.3	+	0	13				NGDN_ENST00000408901.3_De_novo_Start_InFrame			Q8NEJ9	NGDN_HUMAN	neuroguidin, EIF4E binding protein						regulation of translation	axon|cytoplasm|dendrite|filopodium|nucleus				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	12	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00654)		GCTTTGCGAAGATGGCGGCGC	0.537000											OREG0022601	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	164					0	0	1	0	0
CTNND2	1501	broad.mit.edu	37	5	11098777	11098777	+	Silent	SNP	G	G	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr5:11098777G>T	ENST00000304623.8	-	15	2736	c.2547C>A	c.(2545-2547)ccC>ccA	p.P849P	CTNND2_ENST00000503622.1_Silent_p.P512P|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000458100.2_Silent_p.P416P|CTNND2_ENST00000511377.1_Silent_p.P758P|CTNND2_ENST00000359640.2_Intron	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	849					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding	p.P849P(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						GTGTGAGGTAGGGTTTGACTA	0.562000													43	48					7.22619e-39	1.19938e-38	1	1	0
STAT3	6774	broad.mit.edu	37	17	40483494	40483494	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr17:40483494C>T	ENST00000264657.5	-	11	1417	c.1105G>A	c.(1105-1107)Gac>Aac	p.D369N	STAT3_ENST00000404395.3_Missense_Mutation_p.D369N|STAT3_ENST00000588969.1_Missense_Mutation_p.D369N|STAT3_ENST00000585517.1_Missense_Mutation_p.D369N|STAT3_ENST00000389272.3_Missense_Mutation_p.D271N	NM_003150.3|NM_139276.2	NP_003141.2|NP_644805.1	P40763	STAT3_HUMAN	signal transducer and activator of transcription 3 (acute-phase response factor)	369					cellular component movement|eating behavior|eye photoreceptor cell differentiation|glucose homeostasis|interleukin-6-mediated signaling pathway|interspecies interaction between organisms|JAK-STAT cascade involved in growth hormone signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein import into nucleus|response to estradiol stimulus|sexual reproduction|temperature homeostasis	cytosol|nucleus|plasma membrane	calcium ion binding|ligand-regulated transcription factor activity|protein dimerization activity|protein kinase binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding	p.D369N(1)		breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135)		BRCA - Breast invasive adenocarcinoma(366;0.139)		ACTTACTTGTCAATGCACACT	0.323000									Hyperimmunoglobulin E Recurrent Infection Syndrome				4	22					0	0	1	0	0
POTEF	728378	broad.mit.edu	37	2	130832708	130832708	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr2:130832708C>A	ENST00000357462.5	-	15	2430	c.2337G>T	c.(2335-2337)tgG>tgT	p.W779C	POTEF_ENST00000409914.2_Missense_Mutation_p.W779C			A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F	779	Actin-like.					cell cortex	ATP binding	p.W779C(1)		breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						CCATGTCATCCCAGTTGGTGA	0.577000													42	77					1.22102e-19	1.65857e-19	1	1	0
UTP3	57050	broad.mit.edu	37	4	71555768	71555768	+	Silent	SNP	G	G	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr4:71555768G>A	ENST00000254803.2	+	1	1573	c.1374G>A	c.(1372-1374)gaG>gaA	p.E458E		NM_020368.2	NP_065101.1	Q9NQZ2	SAS10_HUMAN	UTP3, small subunit (SSU) processome component, homolog (S. cerevisiae)	458					brain development|chromatin modification|gene silencing	nucleolus		p.E458E(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(4)	18			Lung(101;0.235)			GTAAAGAAGAGCAACGTTATA	0.388000													71	127					0	0	1	0	0
OR4D2	124538	broad.mit.edu	37	17	56247349	56247349	+	Missense_Mutation	SNP	G	G	C			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr17:56247349G>C	ENST00000545221.1	+	1	333	c.333G>C	c.(331-333)atG>atC	p.M111I		NM_001004707.3	NP_001004707.1	P58180	OR4D2_HUMAN	olfactory receptor, family 4, subfamily D, member 2	111					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.M111I(1)		breast(1)|kidney(1)|large_intestine(1)|lung(19)|ovary(1)|skin(2)|stomach(1)	26						GAGGTGCCATGGTCTTCTTCC	0.547000													85	51					0	0	1	0	0
DROSHA	29102	broad.mit.edu	37	5	31406967	31406967	+	Missense_Mutation	SNP	C	C	G			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr5:31406967C>G	ENST00000511367.2	-	33	4184	c.3940G>C	c.(3940-3942)Gga>Cga	p.G1314R	DROSHA_ENST00000442743.1_Missense_Mutation_p.G1277R|DROSHA_ENST00000513349.1_Missense_Mutation_p.G1277R|DROSHA_ENST00000344624.3_Missense_Mutation_p.G1314R	NM_013235.4	NP_037367.3	Q9NRR4	RNC_HUMAN	drosha, ribonuclease type III	1314	DRBM.|Necessary for interaction with DGCR8 and pri-miRNA processing activity.				gene silencing by RNA|ribosome biogenesis|RNA processing	nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity	p.G1314R(1)		breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1)	66						TACCTTGGTCCTTTCCCACAG	0.463000													31	82					0	0	1	0	0
AFP	174	broad.mit.edu	37	4	74313324	74313324	+	Missense_Mutation	SNP	T	T	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr4:74313324T>A	ENST00000395792.2	+	8	1089	c.989T>A	c.(988-990)cTa>cAa	p.L330Q	AFP_ENST00000226359.2_Missense_Mutation_p.L330Q	NM_001134.1	NP_001125.1	P02771	FETA_HUMAN	alpha-fetoprotein	330	Albumin 2.				transport		metal ion binding	p.L330Q(1)		breast(1)|endometrium(2)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|urinary_tract(1)	22	Breast(15;0.00102)		Epithelial(6;2.42e-05)|all cancers(17;0.000268)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TCTCCAAATCTAAACAGGTTT	0.358000									Alpha-Fetoprotein, Hereditary Persistence of				32	18					0	0	1	0	0
VPS13D	55187	broad.mit.edu	37	1	12422832	12422833	+	Frame_Shift_Ins	INS	-	-	C			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr1:12422832_12422833insC	ENST00000358136.3	+	51	10328_10329	c.10198_10199insC	c.(10198-10200)cccfs	p.P3400fs	VPS13D_ENST00000356315.4_Frame_Shift_Ins_p.P3375fs	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	3399					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		GGTCATCTTTGCCCCCCGTTAC	0.426													14	849	---	---	---	---					
CSF3R	1441	broad.mit.edu	37	1	36935322	36935323	+	Frame_Shift_Ins	INS	-	-	G			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr1:36935322_36935323insG	ENST00000373103.1	-	11	1951_1952	c.1404_1405insC	c.(1402-1407)ccgcgcfs	p.R469fs	CSF3R_ENST00000487540.2_5'UTR|CSF3R_ENST00000338937.5_Frame_Shift_Ins_p.R469fs|CSF3R_ENST00000331941.5_Frame_Shift_Ins_p.R469fs|CSF3R_ENST00000440588.2_Frame_Shift_Ins_p.R469fs|CSF3R_ENST00000373104.1_Frame_Shift_Ins_p.R469fs|CSF3R_ENST00000418048.2_Frame_Shift_Ins_p.R469fs|CSF3R_ENST00000373106.1_Frame_Shift_Ins_p.R469fs|CSF3R_ENST00000361632.4_Frame_Shift_Ins_p.R469fs	NM_156039.3	NP_724781.1	Q99062	CSF3R_HUMAN	colony stimulating factor 3 receptor (granulocyte)	469	Fibronectin type-III 4.				cell adhesion|defense response	extracellular region|integral to plasma membrane	cytokine receptor activity			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)			Filgrastim(DB00099)|Pegfilgrastim(DB00019)	TTGCTCGCGCTGGGGGGGCCCA	0.634													8	205	---	---	---	---					
FAM151A	338094	broad.mit.edu	37	1	55081756	55081757	+	Frame_Shift_Ins	INS	-	-	G			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr1:55081756_55081757insG	ENST00000302250.2	-	3	511_512	c.351_352insC	c.(349-354)ccctatfs	p.Y118fs	FAM151A_ENST00000371304.2_Frame_Shift_Ins_p.Y118fs|ACOT11_ENST00000371316.3_Intron	NM_176782.2	NP_788954.2	Q8WW52	F151A_HUMAN	family with sequence similarity 151, member A	118						integral to membrane		p.T118fs*43(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	12						CTGTAGATAGTGGGGGGGTGTG	0.594													13	248	---	---	---	---					
EPHX4	253152	broad.mit.edu	37	1	92511121	92511122	+	Frame_Shift_Ins	INS	-	-	G			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr1:92511121_92511122insG	ENST00000370383.4	+	4	606_607	c.508_509insG	c.(508-510)gggfs	p.G170fs		NM_173567.4	NP_775838.3	Q8IUS5	EPHX4_HUMAN	epoxide hydrolase 4	170						integral to membrane	hydrolase activity			central_nervous_system(1)|large_intestine(3)|lung(8)	12						TGGCCATGACTGGGGGGGCATG	0.386													10	348	---	---	---	---					
F3	2152	broad.mit.edu	37	1	95001694	95001695	+	Frame_Shift_Ins	INS	-	-	C			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr1:95001694_95001695insC	ENST00000334047.7	-	3	401_402	c.238_239insG	c.(238-240)atgfs	p.M80fs	F3_ENST00000370207.4_Frame_Shift_Ins_p.M80fs|F3_ENST00000480356.1_5'UTR	NM_001993.4	NP_001984.1	P13726	TF_HUMAN	coagulation factor III (thromboplastin, tissue factor)	80					activation of caspase activity|activation of plasma proteins involved in acute inflammatory response|anti-apoptosis|blood coagulation, extrinsic pathway|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of platelet-derived growth factor receptor signaling pathway|positive regulation of protein kinase B signaling cascade	extracellular matrix|extracellular space|integral to membrane	cell surface binding|phospholipid binding|protease binding			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(7)	14		all_lung(203;0.00106)|Lung NSC(277;0.00475)		all cancers(265;0.0232)|Epithelial(280;0.121)	Coagulation factor VIIa(DB00036)	GTAAAAGCATTTGCTTTTCCAA	0.446													13	340	---	---	---	---					
OVGP1	5016	broad.mit.edu	37	1	111959046	111959047	+	Frame_Shift_Ins	INS	-	-	C			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr1:111959046_111959047insC	ENST00000369732.3	-	10	1109_1110	c.1054_1055insG	c.(1054-1056)catfs	p.H352fs	OVGP1_ENST00000540696.1_3'UTR	NM_002557.3	NP_002548.3	Q12889	OVGP1_HUMAN	oviductal glycoprotein 1, 120kDa	352					chitin catabolic process|female pregnancy|single fertilization	transport vesicle	cation binding|chitinase activity			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	39		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)		CCACACCATGGCCCCCCCAAAA	0.505													17	317	---	---	---	---					
ITGA10	8515	broad.mit.edu	37	1	145534121	145534122	+	Frame_Shift_Ins	INS	-	-	C	rs147270843		TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr1:145534121_145534122insC	ENST00000369304.3	+	14	1801_1802	c.1626_1627insC	c.(1624-1629)gaccccfs	p.DP542fs	ITGA10_ENST00000538811.1_Frame_Shift_Ins_p.DP411fs|ITGA10_ENST00000539363.1_Frame_Shift_Ins_p.DP399fs	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN	integrin, alpha 10	542					cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity			NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TTCAGCCAGAACCCCCCCAGGA	0.554													8	243	---	---	---	---					
RFX5	5993	broad.mit.edu	37	1	151318740	151318741	+	Frame_Shift_Ins	INS	-	-	G			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr1:151318740_151318741insG	ENST00000290524.4	-	3	234_235	c.56_57insC	c.(55-57)cggfs	p.R19fs	RFX5_ENST00000478564.1_5'UTR|RFX5_ENST00000452513.2_Frame_Shift_Ins_p.R19fs|RFX5_ENST00000452671.2_Frame_Shift_Ins_p.R19fs|RFX5_ENST00000368870.2_Frame_Shift_Ins_p.R19fs	NM_000449.3|NM_001025603.1	NP_000440.1|NP_001020774.1	P48382	RFX5_HUMAN	regulatory factor X, 5 (influences HLA class II expression)	19						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			endometrium(3)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			CAGCACCACCTGGGGGGGCCCT	0.554													7	244	---	---	---	---					
TDRD10	126668	broad.mit.edu	37	1	154493907	154493908	+	Frame_Shift_Ins	INS	-	-	C			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr1:154493907_154493908insC	ENST00000368482.4	+	6	1159_1160	c.321_322insC	c.(319-324)agccccfs	p.SP107fs	TDRD10_ENST00000479937.1_3'UTR|TDRD10_ENST00000368480.3_Frame_Shift_Ins_p.SP107fs	NM_001098475.1|NM_182499.3	NP_001091945.1|NP_872305.3	Q5VZ19	TDR10_HUMAN	tudor domain containing 10	107	RRM.						nucleotide binding|RNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			CAAGCAAAAGGCCCCCCAAGAG	0.520													8	301	---	---	---	---					
ASH1L	55870	broad.mit.edu	37	1	155491185	155491186	+	Frame_Shift_Ins	INS	-	-	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr1:155491185_155491186insT	ENST00000368346.3	-	2	764_765	c.125_126insA	c.(124-126)aacfs	p.N42fs	ASH1L_ENST00000392403.3_Frame_Shift_Ins_p.N42fs|ASH1L_ENST00000548830.1_Frame_Shift_Ins_p.N42fs			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	42					cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			CCTCCTTTGTGTTTTTTTCTAG	0.431													9	1277	---	---	---	---					
KIRREL	55243	broad.mit.edu	37	1	158058202	158058203	+	Frame_Shift_Ins	INS	-	-	C			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr1:158058202_158058203insC	ENST00000368172.1	+	4	408_409	c.396_397insC	c.(394-399)aaccccfs	p.NP132fs	KIRREL_ENST00000359209.6_Frame_Shift_Ins_p.NP334fs|KIRREL_ENST00000392272.2_Frame_Shift_Ins_p.NP231fs|KIRREL_ENST00000416935.2_Frame_Shift_Ins_p.NP234fs|KIRREL_ENST00000360089.4_Frame_Shift_Ins_p.NP170fs|KIRREL_ENST00000368173.3_Frame_Shift_Ins_p.NP334fs			Q96J84	KIRR1_HUMAN	kin of IRRE like (Drosophila)	334	Ig-like C2-type 2.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1)	38	all_hematologic(112;0.0378)					GGGTTGGGAATCCCCCCCTCAC	0.455													8	270	---	---	---	---					
CD1C	911	broad.mit.edu	37	1	158262099	158262100	+	Frame_Shift_Ins	INS	-	-	C			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr1:158262099_158262100insC	ENST00000368170.3	+	3	833_834	c.554_555insC	c.(553-555)tccfs	p.S185fs		NM_001765.2	NP_001756.2	P29017	CD1C_HUMAN	CD1c molecule	185					antigen processing and presentation|T cell activation involved in immune response	endosome membrane|integral to plasma membrane	endogenous lipid antigen binding|exogenous lipid antigen binding|glycolipid binding|lipopeptide binding			NS(1)|endometrium(3)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	39	all_hematologic(112;0.0378)					AGAAGCACTTGCCCCCGATTTC	0.450													7	2000	---	---	---	---					
OR10Z1	128368	broad.mit.edu	37	1	158577072	158577073	+	Frame_Shift_Ins	INS	-	-	C			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr1:158577072_158577073insC	ENST00000361284.1	+	1	844_845	c.844_845insC	c.(844-846)cccfs	p.P282fs		NM_001004478.1	NP_001004478.1	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z, member 1	282					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37	all_hematologic(112;0.0378)					TACTGTAGTGACCCCCCTCCTT	0.460													10	1276	---	---	---	---					
XCL2	6846	broad.mit.edu	37	1	168510352	168510352	+	Frame_Shift_Del	DEL	A	A	-			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr1:168510352delA	ENST00000367819.2	-	3	215	c.183delT	c.(181-183)atfs	p.I61fs		NM_003175.3	NP_003166.1	Q9UBD3	XCL2_HUMAN	chemokine (C motif) ligand 2	61					blood circulation|chemotaxis|immune response|signal transduction	extracellular space	chemokine activity			large_intestine(1)|lung(6)|ovary(1)	8	all_hematologic(923;0.215)					CACGTTTGGTAATAAAACTGT	0.468													22	406	---	---	---	---					
XCL1	6375	broad.mit.edu	37	1	168550290	168550290	+	Splice_Site	DEL	T	T	-			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr1:168550290delT	ENST00000367818.3	+	3	342	c.176_splice	c.e3-1	p.I59_splice		NM_002995.2	NP_002986.1	P47992	XCL1_HUMAN	chemokine (C motif) ligand 1	59					CD4-positive, alpha-beta T cell proliferation|CD8-positive, alpha-beta T cell proliferation|cell-cell signaling|cellular response to interleukin-4|cellular response to transforming growth factor beta stimulus|immunoglobulin production in mucosal tissue|lymphocyte chemotaxis|negative regulation of interferon-gamma production|negative regulation of interleukin-2 production|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of T cell cytokine production|negative regulation of T-helper 1 cell activation|negative regulation of transcription, DNA-dependent|neutrophil chemotaxis|positive regulation of activated T cell proliferation|positive regulation of B cell chemotaxis|positive regulation of granzyme A production|positive regulation of granzyme B production|positive regulation of interleukin-10 production|positive regulation of natural killer cell chemotaxis|positive regulation of neutrophil chemotaxis|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of T cell chemotaxis|positive regulation of T cell cytokine production|positive regulation of T cell mediated cytotoxicity|positive regulation of thymocyte migration|positive regulation of transforming growth factor-beta production|regulation of inflammatory response|release of sequestered calcium ion into cytosol|response to virus|T-helper 1 cell cytokine production|T-helper 2 cell cytokine production	extracellular space	chemokine activity|protein homodimerization activity			kidney(2)|lung(7)|upper_aerodigestive_tract(1)	10	all_hematologic(923;0.208)					TGCGTTACAGTTTTATTACCA	0.463													10	97	---	---	---	---					
ATP2B4	493	broad.mit.edu	37	1	203667345	203667346	+	Frame_Shift_Ins	INS	-	-	C			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr1:203667345_203667346insC	ENST00000357681.5	+	3	1377_1378	c.254_255insC	c.(253-255)accfs	p.T85fs	ATP2B4_ENST00000391954.2_Frame_Shift_Ins_p.T85fs|ATP2B4_ENST00000341360.2_Frame_Shift_Ins_p.T85fs|ATP2B4_ENST00000367219.3_Frame_Shift_Ins_p.T85fs|ATP2B4_ENST00000367218.3_Frame_Shift_Ins_p.T85fs	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	ATPase, Ca++ transporting, plasma membrane 4	85					ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			CACAACGTGATCCCCCCCAAAA	0.480													9	181	---	---	---	---					
GOLT1A	127845	broad.mit.edu	37	1	204170835	204170836	+	Frame_Shift_Ins	INS	-	-	C			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr1:204170835_204170836insC	ENST00000308302.3	-	3	406_407	c.221_222insG	c.(220-222)ggtfs	p.G74fs		NM_198447.1	NP_940849.1	Q6ZVE7	GOT1A_HUMAN	golgi transport 1A	74					protein transport|vesicle-mediated transport	Golgi membrane|integral to membrane				kidney(1)|lung(2)|urinary_tract(1)	4	all_cancers(21;0.0165)|Breast(84;0.179)|all_epithelial(62;0.242)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.244)			CGATAACCACACCCCCCAGGAG	0.545													8	571	---	---	---	---					
CR2	1380	broad.mit.edu	37	1	207642043	207642044	+	Frame_Shift_Ins	INS	-	-	C			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr1:207642043_207642044insC	ENST00000367057.3	+	3	806_807	c.617_618insC	c.(616-618)gccfs	p.A206fs	CR2_ENST00000367058.3_Frame_Shift_Ins_p.A206fs|CR2_ENST00000458541.2_Frame_Shift_Ins_p.A206fs|CR2_ENST00000485707.1_3'UTR|CR2_ENST00000367059.3_Frame_Shift_Ins_p.A206fs	NM_001006658.2	NP_001006659.1	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	206	Sushi 3.				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity	p.T209fs*10(1)		NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						TGGAGTGCTGTCCCCCCCACAT	0.396													13	334	---	---	---	---					
DIEXF	27042	broad.mit.edu	37	1	210014266	210014267	+	Frame_Shift_Ins	INS	-	-	C			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr1:210014266_210014267insC	ENST00000491415.2	+	8	1408_1409	c.1351_1352insC	c.(1351-1353)cccfs	p.P451fs		NM_014388.6	NP_055203.4	Q68CQ4	DIEXF_HUMAN	digestive organ expansion factor homolog (zebrafish)	451					multicellular organismal development	nucleus				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(15)|large_intestine(7)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(2)	53						CCTCATTGCTTCCCCCCTGGGC	0.465													7	324	---	---	---	---					
SIPA1L2	57568	broad.mit.edu	37	1	232650637	232650638	+	Frame_Shift_Ins	INS	-	-	G			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr1:232650637_232650638insG	ENST00000366630.1	-	2	806_807	c.448_449insC	c.(448-450)aagfs	p.K150fs	SIPA1L2_ENST00000262861.4_Frame_Shift_Ins_p.K150fs			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	150					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				AAGTCCTCTTTGGGGGGAATGG	0.490													7	525	---	---	---	---					
NFU1	27247	broad.mit.edu	37	2	69659083	69659084	+	Translation_Start_Site	DEL	CT	CT	-			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr2:69659083_69659084delCT	ENST00000394305.1	-	0	404_405				NFU1_ENST00000471185.1_5'UTR|NFU1_ENST00000303698.3_Frame_Shift_Del_p.Q15fs|NFU1_ENST00000410022.2_Frame_Shift_Del_p.Q39fs	NM_001002756.2	NP_001002756.1	Q9UMS0	NFU1_HUMAN	NFU1 iron-sulfur cluster scaffold homolog (S. cerevisiae)						iron-sulfur cluster assembly	cytosol|mitochondrion|nucleus	4 iron, 4 sulfur cluster binding|iron ion binding|protein binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)	7						TTTGTACAAACTGATGCAGAGG	0.371													23	77	---	---	---	---					
ALMS1	7840	broad.mit.edu	37	2	73678333	73678333	+	Frame_Shift_Del	DEL	C	C	-			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr2:73678333delC	ENST00000264448.6	+	8	4787	c.4676delC	c.(4675-4677)aafs	p.T1560fs	ALMS1_ENST00000409009.1_Frame_Shift_Del_p.T1518fs|ALMS1_ENST00000377715.1_Frame_Shift_Del_p.T1560fs	NM_015120.4	NP_055935.4	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	1560	34 X 47 AA approximate tandem repeat.				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						GCTGACCAGACAACTGGCATA	0.468													47	233	---	---	---	---					
LINC00152	112597	broad.mit.edu	37	2	87865524	87865525	+	RNA	INS	-	-	C			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr2:87865524_87865525insC	ENST00000409054.1	+	0	278					NR_015395.1																						AAAATAAATTTCCCCCCAGAAC	0.455													7	540	---	---	---	---					
IGKV1D-43	28891	broad.mit.edu	37	2	90249072	90249072	+	RNA	DEL	A	A	-			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr2:90249072delA	ENST00000468879.1	+	0	236																											AATTGTATGGACATTTGTGTT	0.473													66	130	---	---	---	---					
IL1R2	7850	broad.mit.edu	37	2	102638681	102638682	+	Frame_Shift_Ins	INS	-	-	C			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr2:102638681_102638682insC	ENST00000332549.3	+	6	950_951	c.721_722insC	c.(721-723)cccfs	p.P241fs	IL1R2_ENST00000393414.2_Frame_Shift_Ins_p.P241fs|IL1R2_ENST00000441002.1_Frame_Shift_Ins_p.P241fs	NM_004633.3	NP_004624.1	P27930	IL1R2_HUMAN	interleukin 1 receptor, type II	241	Ig-like C2-type 3.				immune response	integral to membrane|plasma membrane	interleukin-1, Type II, blocking receptor activity			breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)	28					Anakinra(DB00026)	TGTGATCATTTCCCCCCTCAAG	0.490													7	442	---	---	---	---					
XIRP2	129446	broad.mit.edu	37	2	168099957	168099958	+	Frame_Shift_Ins	INS	-	-	G			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr2:168099957_168099958insG	ENST00000409195.1	+	9	2144_2145	c.2055_2056insG	c.(2053-2058)acggggfs	p.TG685fs	XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409273.1_Frame_Shift_Ins_p.TG463fs|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000295237.9_Frame_Shift_Ins_p.TG685fs|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409605.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	510					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AGGACATAACTGGGGGGGATGT	0.421													11	321	---	---	---	---					
MYO3B	140469	broad.mit.edu	37	2	171240258	171240259	+	Frame_Shift_Ins	INS	-	-	C			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr2:171240258_171240259insC	ENST00000334231.6	+	12	1251_1252	c.1251_1252insC	c.(1249-1254)aaccccfs	p.NP417fs	MYO3B_ENST00000408978.4_Frame_Shift_Ins_p.NP408fs|MYO3B_ENST00000409044.3_Frame_Shift_Ins_p.NP408fs|MYO3B_ENST00000602629.1_3'UTR			Q8WXR4	MYO3B_HUMAN	myosin IIIB	408	Myosin head-like.				response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						GCGCCTCCAATCCCCCCCACAT	0.465													7	385	---	---	---	---					
NEUROD1	4760	broad.mit.edu	37	2	182542971	182542972	+	Frame_Shift_Ins	INS	-	-	G			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr2:182542971_182542972insG	ENST00000295108.3	-	2	1073_1074	c.616_617insC	c.(616-618)cctfs	p.P206fs	CERKL_ENST00000479558.1_Intron|NEUROD1_ENST00000496876.1_Intron	NM_002500.4	NP_002491.2	Q13562	NDF1_HUMAN	neuronal differentiation 1	206					amacrine cell differentiation|cerebellum development|dentate gyrus development|embryonic organ morphogenesis|enteroendocrine cell differentiation|glucose homeostasis|inner ear development|insulin secretion|negative regulation of apoptosis|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of intestinal epithelial structure maintenance|response to glucose stimulus	cytoplasm|nucleus	chromatin binding|E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding			endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.088)			CGTCGGCAGGTGGGGGGGCATG	0.619													10	172	---	---	---	---					
SETD5	55209	broad.mit.edu	37	3	9517294	9517295	+	Frame_Shift_Ins	INS	-	-	C			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr3:9517294_9517295insC	ENST00000402466.1	+	24	4322_4323	c.3554_3555insC	c.(3553-3555)accfs	p.T1185fs	SETD5_ENST00000302463.6_Frame_Shift_Ins_p.T1185fs|SETD5_ENST00000402198.1_Frame_Shift_Ins_p.T1283fs|SETD5_ENST00000407969.1_Frame_Shift_Ins_p.T1302fs|SETD5_ENST00000406341.1_Frame_Shift_Ins_p.T1283fs			Q9C0A6	SETD5_HUMAN	SET domain containing 5	1283	Ser-rich.									NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		AGACCTGGAAACCCCCCCTCTC	0.550													7	183	---	---	---	---					
FANCD2	2177	broad.mit.edu	37	3	10088407	10088410	+	Splice_Site	DEL	AGTA	AGTA	-	rs146316187		TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr3:10088407_10088410delAGTA	ENST00000287647.3	+	15	1371	c.1278_splice	c.e15+1	p.426_splice	FANCD2_ENST00000383806.1_Splice_Site_p.426_splice|FANCD2_ENST00000419585.1_Splice_Site_p.426_splice|FANCD2_ENST00000383807.1_Splice_Site_p.426_splice	NM_033084.3	NP_149075.2	Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	426					DNA repair|response to gamma radiation	nucleoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		TTCATTACTTAGTAAGTGTCAGAG	0.358			"""D, Mis, N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				8	41	---	---	---	---					
MLH1	4292	broad.mit.edu	37	3	37070348	37070349	+	Frame_Shift_Ins	INS	-	-	C	rs63750855		TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr3:37070348_37070349insC	ENST00000231790.2	+	13	1699_1700	c.1483_1484insC	c.(1483-1485)cccfs	p.P495fs	MLH1_ENST00000539477.1_Frame_Shift_Ins_p.P254fs|MLH1_ENST00000458205.2_Frame_Shift_Ins_p.P254fs|MLH1_ENST00000455445.2_Frame_Shift_Ins_p.P254fs|MLH1_ENST00000536378.1_Frame_Shift_Ins_p.P254fs|MLH1_ENST00000435176.1_Frame_Shift_Ins_p.P397fs	NM_000249.3|NM_001258273.1	NP_000240.1|NP_001245202.1	P40692	MLH1_HUMAN	mutL homolog 1	495	Interaction with EXO1.				mismatch repair|somatic hypermutation of immunoglobulin genes	chiasma|MutLalpha complex|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|protein binding	p.T495A(1)|p.0?(1)		NS(1)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(54)|lung(13)|oesophagus(7)|ovary(6)|pancreas(5)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	127						TGCAGCTTGTACCCCCCGGAGA	0.470		1	"""D, Mis, N, F, S"""		"""colorectal, endometrial, ovarian, CNS"""	"""colorectal, endometrial, ovarian, CNS"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				7	373	---	---	---	---					
MUC13	56667	broad.mit.edu	37	3	124646628	124646629	+	Frame_Shift_Ins	INS	-	-	G			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr3:124646628_124646629insG	ENST00000311075.3	-	2	299_300	c.261_262insC	c.(259-264)cctaatfs	p.N88fs		NM_033049.3	NP_149038.3	Q9H3R2	MUC13_HUMAN	mucin 13, cell surface associated	88	Thr-rich.					extracellular region|integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)|stomach(1)	18						GTACTAATTATGGGGGGAGCAG	0.441													7	711	---	---	---	---					
ATP13A3	79572	broad.mit.edu	37	3	194169249	194169250	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr3:194169249_194169250delTC	ENST00000439040.1	-	12	1877_1878	c.1086_1087delGA	c.(1084-1089)ggcafs	p.GT362fs	ATP13A3_ENST00000256031.4_Frame_Shift_Del_p.GT362fs			Q9H7F0	AT133_HUMAN	ATPase type 13A3	362					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	24	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)		ATAACAGTTGTCCCACAAAACA	0.351													370	461	---	---	---	---					
LGI2	55203	broad.mit.edu	37	4	25005320	25005321	+	Frame_Shift_Ins	INS	-	-	C			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr4:25005320_25005321insC	ENST00000382114.4	-	8	1575_1576	c.1390_1391insG	c.(1390-1392)catfs	p.H464fs		NM_018176.3	NP_060646.2	Q8N0V4	LGI2_HUMAN	leucine-rich repeat LGI family, member 2	464						extracellular region				breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(2)	33		Breast(46;0.173)				CAGGGTCATGGCCCCCCGGGAT	0.515													7	212	---	---	---	---					
ABCG2	9429	broad.mit.edu	37	4	89052270	89052271	+	Frame_Shift_Ins	INS	-	-	T	rs150450599	byFrequency	TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr4:89052270_89052271insT	ENST00000237612.3	-	5	1018_1019	c.473_474insA	c.(472-474)agafs	p.R158fs	ABCG2_ENST00000515655.1_Frame_Shift_Ins_p.R158fs	NM_004827.2	NP_004818.2	Q9UNQ0	ABCG2_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 2	158	ABC transporter.				cellular iron ion homeostasis|urate metabolic process	integral to membrane|plasma membrane	ATP binding|heme transporter activity|protein homodimerization activity|xenobiotic-transporting ATPase activity			breast(5)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(13)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;7.02e-05)	Imatinib(DB00619)|Mitoxantrone(DB01204)|Nicardipine(DB00622)|Nitrendipine(DB01054)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Topotecan(DB01030)	TAATCCGTTCGTTTTTTTCATG	0.426													8	697	---	---	---	---					
UNC5C	8633	broad.mit.edu	37	4	96140293	96140294	+	Frame_Shift_Ins	INS	-	-	G			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr4:96140293_96140294insG	ENST00000453304.1	-	9	1819_1820	c.1471_1472insC	c.(1471-1473)agafs	p.R491fs	UNC5C_ENST00000506749.1_Frame_Shift_Ins_p.R510fs	NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	491					apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		GAGGTCATCTTGGGGGGTGACA	0.505													7	376	---	---	---	---					
C4orf17	84103	broad.mit.edu	37	4	100443777	100443778	+	Frame_Shift_Ins	INS	-	-	C			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr4:100443777_100443778insC	ENST00000514652.1	+	3	602_603	c.248_249insC	c.(247-249)tccfs	p.S83fs	C4orf17_ENST00000503257.1_3'UTR|C4orf17_ENST00000326581.4_Frame_Shift_Ins_p.S83fs			Q53FE4	CD017_HUMAN	chromosome 4 open reading frame 17	83										central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|urinary_tract(3)	18				OV - Ovarian serous cystadenocarcinoma(123;2.08e-08)		AATTGCAGTTACCCCTCCAGCA	0.500													8	267	---	---	---	---					
CFI	3426	broad.mit.edu	37	4	110662158	110662159	+	Frame_Shift_Ins	INS	-	-	C	rs7437875	byFrequency	TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr4:110662158_110662159insC	ENST00000394634.2	-	13	1849_1850	c.1642_1643insG	c.(1642-1644)aaafs	p.K548fs	CFI_ENST00000512148.1_Frame_Shift_Ins_p.K541fs|CFI_ENST00000394635.3_Frame_Shift_Ins_p.K556fs	NM_000204.3	NP_000195.2	P05156	CFAI_HUMAN	complement factor I	548	Peptidase S1.				complement activation, classical pathway|innate immune response|proteolysis	extracellular space|membrane	scavenger receptor activity|serine-type endopeptidase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|skin(2)|stomach(1)	27		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000331)		TCCACAGTTTTCCCCCCAACTC	0.465													8	429	---	---	---	---					
EGF	1950	broad.mit.edu	37	4	110909773	110909774	+	Frame_Shift_Ins	INS	-	-	C			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr4:110909773_110909774insC	ENST00000265171.5	+	18	3087_3088	c.2642_2643insC	c.(2641-2643)tccfs	p.S881fs	EGF_ENST00000503392.1_Frame_Shift_Ins_p.S881fs|EGF_ENST00000509793.1_Frame_Shift_Ins_p.S839fs	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN	epidermal growth factor	881	EGF-like 7; calcium-binding (Potential).				angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity			breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sulindac(DB00605)	GTCCCAGTGTGCCCCCCTGCCT	0.470													7	551	---	---	---	---					
FYB	2533	broad.mit.edu	37	5	39202090	39202091	+	Frame_Shift_Ins	INS	-	-	C			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr5:39202090_39202091insC	ENST00000351578.6	-	2	1162_1163	c.972_973insG	c.(970-975)ggcatgfs	p.M325fs	FYB_ENST00000505428.1_Frame_Shift_Ins_p.M325fs|FYB_ENST00000540520.1_Frame_Shift_Ins_p.M335fs|FYB_ENST00000512982.1_Frame_Shift_Ins_p.M325fs|FYB_ENST00000515010.1_Frame_Shift_Ins_p.M325fs	NM_199335.3	NP_955367.1	O15117	FYB_HUMAN	FYN binding protein	325					cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway	cytosol|nucleus	protein binding	p.P325A(3)|p.P335A(1)		endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45	all_lung(31;0.000343)		Epithelial(62;0.235)			TGGCCCCATGGCCCCCCCACTG	0.540													9	166	---	---	---	---					
C6	729	broad.mit.edu	37	5	41181559	41181560	+	Frame_Shift_Ins	INS	-	-	C			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr5:41181559_41181560insC	ENST00000263413.3	-	7	1092_1093	c.828_829insG	c.(826-831)gggctcfs	p.L277fs	C6_ENST00000337836.5_Frame_Shift_Ins_p.L277fs|C6_ENST00000475349.1_5'UTR	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	277	MACPF.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				CTGAAAGAGCTCCCCCCCTGAC	0.376													11	181	---	---	---	---					
MAP1B	4131	broad.mit.edu	37	5	71495076	71495077	+	Frame_Shift_Ins	INS	-	-	C			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr5:71495076_71495077insC	ENST00000296755.7	+	5	6192_6193	c.5894_5895insC	c.(5893-5895)accfs	p.T1965fs		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1965						microtubule|microtubule associated complex	structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		AAGACCACCAGCCCCCCCGAAG	0.485													9	241	---	---	---	---					
RASGRF2	5924	broad.mit.edu	37	5	80369227	80369228	+	Frame_Shift_Ins	INS	-	-	C			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr5:80369227_80369228insC	ENST00000265080.4	+	5	910_911	c.843_844insC	c.(841-846)aaccccfs	p.NP281fs	RASGRF2_ENST00000502677.1_3'UTR	NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 2	281	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	protein binding|Rho guanyl-nucleotide exchange factor activity			biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		GCTCCAAGAAGCCCCCCATCAG	0.490													13	68	---	---	---	---					
EXOC2	55770	broad.mit.edu	37	6	637793	637794	+	Frame_Shift_Ins	INS	-	-	G			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr6:637793_637794insG	ENST00000230449.4	-	2	160_161	c.25_26insC	c.(25-27)tgtfs	p.C9fs	EXOC2_ENST00000448181.3_Intron	NM_018303.4	NP_060773.3	Q96KP1	EXOC2_HUMAN	exocyst complex component 2	9	IPT/TIG.				exocytosis|protein transport			p.Q6fs*28(1)		breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|liver(1)|lung(16)|ovary(4)|pancreas(1)|prostate(2)	46	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)		OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14)		GCCGGTCACAAGGGGGGGTTGT	0.485													10	305	---	---	---	---					
GCNT2	2651	broad.mit.edu	37	6	10557409	10557410	+	Frame_Shift_Ins	INS	-	-	C	rs55808116		TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr6:10557409_10557410insC	ENST00000316170.3	+	1	1170_1171	c.753_754insC	c.(751-756)ccccccfs	p.PP251fs	GCNT2_ENST00000495262.1_Intron|GCNT2_ENST00000397423.2_Intron|GCNT2_ENST00000379597.3_Intron|GCNT2_ENST00000410107.1_Intron	NM_001491.2	NP_001482.1	Q8N0V5	GNT2A_HUMAN	glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)	253						Golgi membrane|integral to membrane	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)	12	Ovarian(93;0.107)|Breast(50;0.148)	all_hematologic(90;0.107)		KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119)		TGAAACCGCCTCCCCCCCATAA	0.485													10	339	---	---	---	---					
PHACTR1	221692	broad.mit.edu	37	6	13206134	13206135	+	Frame_Shift_Ins	INS	-	-	G			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr6:13206134_13206135insG	ENST00000379350.1	+	7	881_882	c.752_753insG	c.(751-753)gggfs	p.G251fs	PHACTR1_ENST00000457702.2_Frame_Shift_Ins_p.G106fs|PHACTR1_ENST00000332995.7_Frame_Shift_Ins_p.G251fs|PHACTR1_ENST00000379345.2_Intron			Q9C0D0	PHAR1_HUMAN	phosphatase and actin regulator 1	251						cell junction|cytoplasm|synapse	actin binding|protein phosphatase inhibitor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)			TGTATGCCCGTGGGGGGGCCAG	0.599													7	204	---	---	---	---					
DCDC2	51473	broad.mit.edu	37	6	24205282	24205283	+	Frame_Shift_Ins	INS	-	-	C			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr6:24205282_24205283insC	ENST00000378454.3	-	8	1271_1272	c.970_971insG	c.(970-972)agcfs	p.S324fs	DCDC2_ENST00000378450.3_Frame_Shift_Ins_p.S77fs	NM_001195610.1|NM_016356.3	NP_001182539.1|NP_057440.2	Q9UHG0	DCDC2_HUMAN	doublecortin domain containing 2	324					cellular defense response|intracellular signal transduction|neuron migration					breast(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32		Ovarian(999;0.101)				GACTTCTGCTGCCCCCCGTGTT	0.411													14	1245	---	---	---	---					
OR5V1	81696	broad.mit.edu	37	6	29323407	29323407	+	Frame_Shift_Del	DEL	C	C	-			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr6:29323407delC	ENST00000377154.1	-	4	865	c.566delG	c.(565-567)ttfs	p.C189fs	OR5V1_ENST00000543825.1_Frame_Shift_Del_p.C189fs			Q9UGF6	OR5V1_HUMAN	olfactory receptor, family 5, subfamily V, member 1	189					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(3)|large_intestine(3)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						AGTGTTTCCACAAGACAAGAT	0.443													138	496	---	---	---	---					
C6orf25	80739	broad.mit.edu	37	6	31692528	31692529	+	Frame_Shift_Ins	INS	-	-	C			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr6:31692528_31692529insC	ENST00000375809.3	+	5	558_559	c.547_548insC	c.(547-549)cccfs	p.P183fs	C6orf25_ENST00000375810.4_Frame_Shift_Ins_p.P183fs|C6orf25_ENST00000480039.1_Intron|C6orf25_ENST00000375805.2_Frame_Shift_Ins_p.CP152fs	NM_025260.3|NM_138272.2|NM_138277.2	NP_079536.2|NP_612116.1|NP_612121.1	O95866	G6B_HUMAN	chromosome 6 open reading frame 25	0						endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	heparin binding|receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)	9						TTCAGCTCTGTCCCCCCCACAT	0.579													9	291	---	---	---	---					
UHRF1BP1	54887	broad.mit.edu	37	6	34791081	34791082	+	Frame_Shift_Ins	INS	-	-	C			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr6:34791081_34791082insC	ENST00000192788.5	+	4	465_466	c.294_295insC	c.(292-297)cgccccfs	p.RP98fs	UHRF1BP1_ENST00000452449.2_Frame_Shift_Ins_p.RP98fs	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	98										breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						AGGATCCTCGGCCCCCCAATGG	0.446													18	885	---	---	---	---					
RUNX2	860	broad.mit.edu	37	6	45514855	45514856	+	Frame_Shift_Ins	INS	-	-	G			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr6:45514855_45514856insG	ENST00000371438.1	+	8	1737_1738	c.1379_1380insG	c.(1378-1380)cggfs	p.R460fs	RUNX2_ENST00000541979.1_Frame_Shift_Ins_p.R506fs|RUNX2_ENST00000359524.5_Frame_Shift_Ins_p.R446fs|RUNX2_ENST00000465038.2_Frame_Shift_Ins_p.R460fs|RUNX2_ENST00000576263.1_Intron|RUNX2_ENST00000371432.3_Frame_Shift_Ins_p.R424fs|RUNX2_ENST00000371436.6_Frame_Shift_Ins_p.R438fs|RUNX2_ENST00000352853.5_Frame_Shift_Ins_p.R528fs	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	460	Interaction with MYST4.|Pro/Ser/Thr-rich.				negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	p.G462fs*22(1)|p.G530fs*22(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						CCCATGGTGCCGGGGGGAGACC	0.545													8	208	---	---	---	---					
REV3L	5980	broad.mit.edu	37	6	111693903	111693904	+	Frame_Shift_Ins	INS	-	-	G			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr6:111693903_111693904insG	ENST00000435970.1	-	15	6236_6237	c.5420_5421insC	c.(5419-5421)cagfs	p.Q1807fs	REV3L_ENST00000358835.3_Frame_Shift_Ins_p.Q1885fs|REV3L_ENST00000368805.1_Frame_Shift_Ins_p.Q1885fs|REV3L_ENST00000368802.3_Frame_Shift_Ins_p.Q1885fs			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	1885					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		CTTCCCTACTTGGGGGGGACAT	0.431								DNA polymerases (catalytic subunits)					8	317	---	---	---	---					
VNN3	55350	broad.mit.edu	37	6	133048074	133048074	+	Frame_Shift_Del	DEL	C	C	-			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr6:133048074delC	ENST00000367927.5	-	4	687	c.615delG	c.(613-615)ggfs	p.G205fs	VNN3_ENST00000275223.3_Intron|VNN3_ENST00000519686.2_Intron|VNN3_ENST00000427187.2_Intron|VNN3_ENST00000423615.2_Intron|VNN3_ENST00000392393.3_Intron|VNN3_ENST00000207771.3_Frame_Shift_Del_p.G205fs|VNN3_ENST00000417437.2_Intron|VNN3_ENST00000509351.1_Intron|VNN3_ENST00000450865.2_Intron|VNN3_ENST00000414302.2_3'UTR|VNN3_ENST00000425515.2_3'UTR					vanin 3											cervix(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)|stomach(1)	8	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00242)|GBM - Glioblastoma multiforme(226;0.0168)		TGCCAAACTTCCCAAAGGGAG	0.398													17	29	---	---	---	---					
RP11-235G24.1	0	broad.mit.edu	37	6	161319545	161319545	+	RNA	DEL	A	A	-			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr6:161319545delA	ENST00000454826.1	-	0	207																											TTAAATAAAGAAAAACACTTA	0.368													25	36	---	---	---	---					
ABCB5	340273	broad.mit.edu	37	7	20685588	20685589	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr7:20685588_20685589delAC	ENST00000404938.2	+	9	1460_1461	c.808_809delAC	c.(808-810)afs	p.T270fs		NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	456	ABC transmembrane type-1.				regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						TGTAAGGTATACACAGAATCTC	0.347													35	100	---	---	---	---					
GRM3	2913	broad.mit.edu	37	7	86415681	86415682	+	Frame_Shift_Ins	INS	-	-	C			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr7:86415681_86415682insC	ENST00000361669.2	+	3	1672_1673	c.573_574insC	c.(571-576)gtccccfs	p.VP191fs	GRM3_ENST00000536043.1_Frame_Shift_Ins_p.VP63fs|GRM3_ENST00000439827.1_Frame_Shift_Ins_p.VP191fs|AC005009.2_ENST00000452471.1_RNA|GRM3_ENST00000394720.2_Frame_Shift_Ins_p.VP189fs|AC005009.2_ENST00000418031.1_RNA|GRM3_ENST00000546348.1_Intron	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	191					synaptic transmission	integral to plasma membrane				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	CCAGGACCGTGCCCCCCGACTT	0.564													7	211	---	---	---	---					
AKAP9	10142	broad.mit.edu	37	7	91732038	91732039	+	Frame_Shift_Ins	INS	-	-	G	rs143306820		TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr7:91732038_91732039insG	ENST00000359028.2	+	46	11465_11466	c.11240_11241insG	c.(11239-11241)aggfs	p.R3747fs	AKAP9_ENST00000358100.2_Frame_Shift_Ins_p.R3693fs|AKAP9_ENST00000356239.3_Frame_Shift_Ins_p.R3743fs			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	3747					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			CTTGCCCGGATGGGGGGGCAGC	0.535			T	BRAF	papillary thyroid								13	198	---	---	---	---					
AP1S1	1174	broad.mit.edu	37	7	100802404	100802405	+	Frame_Shift_Ins	INS	-	-	G			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr7:100802404_100802405insG	ENST00000337619.5	+	4	474_475	c.356_357insG	c.(355-357)aggfs	p.R119fs		NM_001283.3	NP_001274.1	P61966	AP1S1_HUMAN	adaptor-related protein complex 1, sigma 1 subunit	119					intracellular protein transport|post-Golgi vesicle-mediated transport|receptor-mediated endocytosis|regulation of defense response to virus by virus|response to virus|viral reproduction	AP-1 adaptor complex|coated pit|cytosol|lysosomal membrane	protein binding|protein transporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)	8	Lung NSC(181;0.168)|all_lung(186;0.215)					GAGTTTTTGATGGGGGGGGATG	0.564													7	48	---	---	---	---					
CPED1	79974	broad.mit.edu	37	7	120911387	120911388	+	Frame_Shift_Ins	INS	-	-	A	rs141494536	byFrequency	TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr7:120911387_120911388insA	ENST00000310396.5	+	22	3238_3239	c.2771_2772insA	c.(2770-2772)gaafs	p.E924fs		NM_024913.4	NP_079189.4			cadherin-like and PC-esterase domain containing 1																		CTGGATACTGCAAAAAAACATG	0.351													8	258	---	---	---	---					
EXOC4	60412	broad.mit.edu	37	7	133682284	133682285	+	Frame_Shift_Ins	INS	-	-	C	rs34608222	byFrequency	TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr7:133682284_133682285insC	ENST00000253861.4	+	15	2275_2276	c.2246_2247insC	c.(2245-2247)cccfs	p.P749fs	EXOC4_ENST00000541309.1_Frame_Shift_Ins_p.P37fs|EXOC4_ENST00000545148.1_Frame_Shift_Ins_p.P359fs|EXOC4_ENST00000539845.1_Frame_Shift_Ins_p.P648fs	NM_021807.3	NP_068579.3	Q96A65	EXOC4_HUMAN	exocyst complex component 4	749					vesicle docking involved in exocytosis	exocyst	protein N-terminus binding			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	50		Esophageal squamous(399;0.129)				AACACGGATCTCCCCCCAGTGT	0.460													8	355	---	---	---	---					
TRPV5	56302	broad.mit.edu	37	7	142612493	142612494	+	Frame_Shift_Ins	INS	-	-	C			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr7:142612493_142612494insC	ENST00000265310.1	-	10	1617_1618	c.1269_1270insG	c.(1267-1272)ggcattfs	p.I424fs		NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5	424					protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					ACATGGAATGGCCCCCCAAGAA	0.505													8	420	---	---	---	---					
ARFGEF1	10565	broad.mit.edu	37	8	68128855	68128856	+	Frame_Shift_Ins	INS	-	-	G	rs142098461		TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr8:68128855_68128856insG	ENST00000262215.3	-	33	5044_5045	c.4655_4656insC	c.(4654-4656)cccfs	p.P1552fs	ARFGEF1_ENST00000520381.1_Frame_Shift_Ins_p.P1006fs|ARFGEF1_ENST00000518230.1_Frame_Shift_Ins_p.P390fs	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	1552					exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			GAGATGGAGGTGGGGGGGCAGT	0.421													23	265	---	---	---	---					
ABCA1	19	broad.mit.edu	37	9	107593322	107593323	+	Frame_Shift_Ins	INS	-	-	C			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr9:107593322_107593323insC	ENST00000374736.3	-	14	2169_2170	c.1775_1776insG	c.(1774-1776)gttfs	p.V592fs		NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	592					Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	AGTAGGCGAAGCCCCCCCAGAC	0.540													10	226	---	---	---	---					
PRRC2B	84726	broad.mit.edu	37	9	134349850	134349851	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr9:134349850_134349851delCT	ENST00000357304.4	+	15	2389_2390	c.2334_2335delCT	c.(2332-2337)agctfs	p.SS778fs	PRRC2B_ENST00000458550.1_Intron|PRRC2B_ENST00000372249.1_5'UTR|PRRC2B_ENST00000405995.1_Intron	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN	proline-rich coiled-coil 2B	778							protein binding			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						GGAATGAAAGCTCTTTCTCTGC	0.475													21	87	---	---	---	---					
MLLT10	8028	broad.mit.edu	37	10	21962451	21962452	+	Frame_Shift_Ins	INS	-	-	G			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr10:21962451_21962452insG	ENST00000377072.3	+	11	1572_1573	c.1224_1225insG	c.(1222-1227)gaggggfs	p.EG408fs	MLLT10_ENST00000307729.7_Frame_Shift_Ins_p.EG408fs|MLLT10_ENST00000377059.3_Frame_Shift_Ins_p.EG408fs|MLLT10_ENST00000446906.2_Frame_Shift_Ins_p.EG408fs	NM_004641.3	NP_004632.1	P55197	AF10_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10	408	DNA-binding.				positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.V411fs*3(1)		NS(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						GAAGCCAGGAAGGGGGGGTAAA	0.436			T	"""MLL, PICALM, CDK6"""	AL								19	597	---	---	---	---					
PARD3	56288	broad.mit.edu	37	10	34666941	34666942	+	Frame_Shift_Ins	INS	-	-	C			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr10:34666941_34666942insC	ENST00000374789.3	-	10	1817_1818	c.1492_1493insG	c.(1492-1494)ggcfs	p.G498fs	PARD3_ENST00000374776.1_Frame_Shift_Ins_p.G498fs|PARD3_ENST00000374790.3_Frame_Shift_Ins_p.G454fs|PARD3_ENST00000340077.5_Frame_Shift_Ins_p.G498fs|PARD3_ENST00000544292.1_Frame_Shift_Ins_p.G228fs|PARD3_ENST00000374773.1_Frame_Shift_Ins_p.G498fs|PARD3_ENST00000346874.4_Frame_Shift_Ins_p.G498fs|PARD3_ENST00000374788.3_Frame_Shift_Ins_p.G498fs|PARD3_ENST00000545693.1_Frame_Shift_Ins_p.G498fs|PARD3_ENST00000545260.1_Frame_Shift_Ins_p.G454fs|PARD3_ENST00000350537.4_Frame_Shift_Ins_p.G498fs|PARD3_ENST00000374794.3_Frame_Shift_Ins_p.G454fs	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator	498	PDZ 2.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly	cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				CTGAATGGCCGCCCCCCGGGGG	0.480													7	154	---	---	---	---					
AGAP7	653268	broad.mit.edu	37	10	51465345	51465346	+	Frame_Shift_Ins	INS	-	-	G			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr10:51465345_51465346insG	ENST00000374095.5	-	7	1235_1236	c.1110_1111insC	c.(1108-1113)ccctccfs	p.S371fs		NM_001077685.1	NP_001071153.1	Q5VUJ5	AGAP7_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 7	371	PH.				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	11						GCATGAGGAGAGGGGGGCGGGT	0.530													15	74	---	---	---	---					
SEC24C	9632	broad.mit.edu	37	10	75525559	75525560	+	Splice_Site	INS	-	-	C			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr10:75525559_75525560insC	ENST00000339365.2	+	11	1530_1531	c.1366_splice	c.e11-1	p.VP456_splice	SEC24C_ENST00000540668.1_Intron|SEC24C_ENST00000535742.1_Intron|SEC24C_ENST00000546025.1_Intron|SEC24C_ENST00000411652.2_Splice_Site_p.VP337_splice|SEC24C_ENST00000345254.4_Splice_Site_p.VP456_splice	NM_004922.3	NP_004913.2	P53992	SC24C_HUMAN	SEC24 family member C	456					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Prostate(51;0.0112)					TTCCCACAGTTCCCCCCCAGTA	0.510													18	371	---	---	---	---					
HECTD2	143279	broad.mit.edu	37	10	93272060	93272061	+	Frame_Shift_Ins	INS	-	-	C			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr10:93272060_93272061insC	ENST00000446394.1	+	22	2362_2363	c.2262_2263insC	c.(2260-2265)ctccccfs	p.LP754fs	HECTD2_ENST00000298068.5_Frame_Shift_Ins_p.LP750fs|HECTD2_ENST00000536715.1_Frame_Shift_Ins_p.LP339fs|HECTD2_ENST00000371667.1_Frame_Shift_Ins_p.LP400fs			Q5U5R9	HECD2_HUMAN	HECT domain containing E3 ubiquitin protein ligase 2	750	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity			breast(2)|endometrium(2)|kidney(4)|large_intestine(10)|lung(7)|skin(1)|urinary_tract(1)	27						AACTTTGCCTTCCCCCCTACAA	0.356													8	451	---	---	---	---					
TLL2	7093	broad.mit.edu	37	10	98164994	98164995	+	Frame_Shift_Ins	INS	-	-	G			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr10:98164994_98164995insG	ENST00000357947.3	-	10	1486_1487	c.1261_1262insC	c.(1261-1263)tttfs	p.F421fs	TLL2_ENST00000469598.1_5'UTR	NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN	tolloid-like 2	421	CUB 1.				cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		CTTACCCAAAAGGGGGGCTTTT	0.480													7	494	---	---	---	---					
BTRC	8945	broad.mit.edu	37	10	103310572	103310573	+	Frame_Shift_Ins	INS	-	-	C			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr10:103310572_103310573insC	ENST00000370187.3	+	14	1891_1892	c.1773_1774insC	c.(1771-1776)gaccccfs	p.DP591fs	BTRC_ENST00000393441.4_Frame_Shift_Ins_p.DP550fs|BTRC_ENST00000408038.2_Frame_Shift_Ins_p.DP555fs|BTRC_ENST00000493877.1_3'UTR	NM_033637.3	NP_378663.1	Q9Y297	FBW1A_HUMAN	beta-transducin repeat containing E3 ubiquitin protein ligase	591					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|positive regulation of proteolysis|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|viral reproduction|Wnt receptor signaling pathway	cytosol|nucleus|SCF ubiquitin ligase complex				endometrium(4)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	27		Colorectal(252;0.234)		Epithelial(162;1.05e-08)|all cancers(201;6.59e-07)		CCCAAGCTGAACCCCCCCGTTC	0.431													9	352	---	---	---	---					
TRUB1	142940	broad.mit.edu	37	10	116730191	116730192	+	Frame_Shift_Ins	INS	-	-	C			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr10:116730191_116730192insC	ENST00000298746.3	+	5	649_650	c.588_589insC	c.(586-591)gtccccfs	p.VP196fs		NM_139169.4	NP_631908.1	Q8WWH5	TRUB1_HUMAN	TruB pseudouridine (psi) synthase family member 1	196					pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding			breast(2)|kidney(2)|large_intestine(1)|lung(5)|urinary_tract(2)	12		Colorectal(252;0.09)|Breast(234;0.174)|Lung NSC(174;0.245)		Epithelial(162;0.00879)|all cancers(201;0.0243)		TAATGCAAGTGCCCCCCCTGTA	0.317													12	183	---	---	---	---					
LINC00959	387723	broad.mit.edu	37	10	131905959	131905960	+	RNA	INS	-	-	G			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr10:131905959_131905960insG	ENST00000456581.1	-	0	114																											CTTTGCCTCCAGGGGGGGAAGG	0.530													12	173	---	---	---	---					
OR52B6	340980	broad.mit.edu	37	11	5602545	5602546	+	Frame_Shift_Ins	INS	-	-	C			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr11:5602545_5602546insC	ENST00000345043.2	+	1	439_440	c.439_440insC	c.(439-441)cccfs	p.P147fs	HBG2_ENST00000380259.2_Intron|AC015691.13_ENST00000394793.2_RNA	NM_001005162.2	NP_001005162.2	Q8NGF0	O52B6_HUMAN	olfactory receptor, family 52, subfamily B, member 6	147					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)	12		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;3.56e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGCCATCTGCTCCCCCCTGCGA	0.510													8	843	---	---	---	---					
DDB1	1642	broad.mit.edu	37	11	61093159	61093160	+	Frame_Shift_Ins	INS	-	-	C			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr11:61093159_61093160insC	ENST00000301764.7	-	6	1082_1083	c.685_686insG	c.(685-687)catfs	p.H229fs	DDB1_ENST00000450997.2_Intron|DDB1_ENST00000545930.1_5'UTR	NM_001923.4	NP_001914.3	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1, 127kDa	229	Interaction with CDT1.				cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm	damaged DNA binding|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						AATGATGATGGCCCCCCCAAAG	0.490								Nucleotide excision repair (NER)					7	81	---	---	---	---					
CPSF7	79869	broad.mit.edu	37	11	61183884	61183885	+	Frame_Shift_Ins	INS	-	-	G			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr11:61183884_61183885insG	ENST00000340437.4	-	6	866_867	c.786_787insC	c.(784-789)ccgtgtfs	p.C263fs	CPSF7_ENST00000448745.1_Frame_Shift_Ins_p.C211fs|CPSF7_ENST00000439958.3_Frame_Shift_Ins_p.C211fs|CPSF7_ENST00000394888.4_Frame_Shift_Ins_p.C220fs	NM_024811.3	NP_079087.3	Q8N684	CPSF7_HUMAN	cleavage and polyadenylation specific factor 7, 59kDa	220	Pro-rich.				mRNA 3'-end processing|nuclear mRNA splicing, via spliceosome|protein tetramerization|termination of RNA polymerase II transcription	mRNA cleavage factor complex	nucleotide binding|protein binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	22						GGCAGCACACTGGGGGGCTTAT	0.594													10	532	---	---	---	---					
BSCL2	26580	broad.mit.edu	37	11	62458782	62458783	+	Frame_Shift_Ins	INS	-	-	C			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr11:62458782_62458783insC	ENST00000433053.1	-	8	1530_1531	c.974_975insG	c.(973-975)gatfs	p.D325fs	BSCL2_ENST00000405837.1_Frame_Shift_Ins_p.D325fs|RP11-831H9.16_ENST00000403734.2_3'UTR|BSCL2_ENST00000360796.5_Frame_Shift_Ins_p.D325fs|BSCL2_ENST00000407022.3_Frame_Shift_Ins_p.D261fs|BSCL2_ENST00000421906.1_Frame_Shift_Ins_p.D261fs|BSCL2_ENST00000403550.1_Frame_Shift_Ins_p.D261fs|BSCL2_ENST00000278893.7_Intron			Q96G97	BSCL2_HUMAN	Berardinelli-Seip congenital lipodystrophy 2 (seipin)	261					cell death	integral to endoplasmic reticulum membrane				endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	12						GGGGCCAGATGCCCCCCCACAC	0.559													7	139	---	---	---	---					
NCAM1	4684	broad.mit.edu	37	11	113076860	113076861	+	Frame_Shift_Ins	INS	-	-	G			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr11:113076860_113076861insG	ENST00000316851.7	+	4	556_557	c.556_557insG	c.(556-558)gggfs	p.G186fs	NCAM1_ENST00000397957.4_3'UTR|NCAM1_ENST00000401611.2_Frame_Shift_Ins_p.G195fs|NCAM1_ENST00000533760.1_Frame_Shift_Ins_p.G78fs	NM_001242607.1|NM_181351.4	NP_001229536.1|NP_851996.2	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1	196	Ig-like C2-type 2.				axon guidance|interferon-gamma-mediated signaling pathway	anchored to membrane|extracellular region|Golgi membrane|integral to membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		AATCCTGGCACGGGGGGAGATC	0.495													11	751	---	---	---	---					
C1S	716	broad.mit.edu	37	12	7171652	7171653	+	Frame_Shift_Ins	INS	-	-	C			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr12:7171652_7171653insC	ENST00000406697.1	+	8	1101_1102	c.473_474insC	c.(472-474)tccfs	p.S158fs	C1S_ENST00000402681.3_5'UTR|C1S_ENST00000360817.5_Frame_Shift_Ins_p.S158fs|C1S_ENST00000328916.3_Frame_Shift_Ins_p.S158fs			P09871	C1S_HUMAN	complement component 1, s subcomponent	158	EGF-like; calcium-binding.				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33					Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	TTCTGCTCCTGCCCCCCGGAAT	0.455													12	420	---	---	---	---					
HEBP1	50865	broad.mit.edu	37	12	13142224	13142225	+	Frame_Shift_Ins	INS	-	-	C			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr12:13142224_13142225insC	ENST00000536942.1	-	2	353_354	c.203_204insG	c.(202-204)gacfs	p.D68fs	HEBP1_ENST00000014930.4_Frame_Shift_Ins_p.D68fs			Q9NRV9	HEBP1_HUMAN	heme binding protein 1	68					circadian rhythm	extracellular region				breast(1)|endometrium(1)|large_intestine(3)|lung(1)|urinary_tract(1)	7		Prostate(47;0.183)		BRCA - Breast invasive adenocarcinoma(232;0.153)		TGTCATTGGTGCCCCCCGCATA	0.554													10	957	---	---	---	---					
GRIN2B	2904	broad.mit.edu	37	12	14019043	14019044	+	Frame_Shift_Ins	INS	-	-	G	rs77738206		TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr12:14019043_14019044insG	ENST00000279593.3	-	2	308_309	c.99_100insC	c.(97-102)ccgcatfs	p.H34fs		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	34					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	ATGCCAATGCTGGGGGGGCTCT	0.589													9	162	---	---	---	---					
H3F3C	440093	broad.mit.edu	37	12	31945092	31945093	+	Frame_Shift_Ins	INS	-	-	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr12:31945092_31945093insA	ENST00000340398.3	-	1	82_83	c.8_9insT	c.(7-9)cacfs	p.H3fs		NM_001013699.2	NP_001013721.2	Q6NXT2	H3C_HUMAN	H3 histone, family 3C	3					nucleosome assembly	nucleosome|nucleus	DNA binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	18						TCTGCTTGGTTCGGGCCATTTT	0.609										HNSCC(67;0.2)			19	40	---	---	---	---					
PDE1B	5153	broad.mit.edu	37	12	54971059	54971060	+	Frame_Shift_Ins	INS	-	-	C			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr12:54971059_54971060insC	ENST00000243052.3	+	15	1994_1995	c.1558_1559insC	c.(1558-1560)cccfs	p.P520fs	PDE1B_ENST00000394277.3_3'UTR|PDE1B_ENST00000550620.1_Frame_Shift_Ins_p.P500fs|PPP1R1A_ENST00000547431.1_3'UTR|PDE1B_ENST00000538346.1_Frame_Shift_Ins_p.P479fs	NM_000924.3	NP_000915.1	Q01064	PDE1B_HUMAN	phosphodiesterase 1B, calmodulin-dependent	520					activation of phospholipase C activity|apoptosis|nerve growth factor receptor signaling pathway|platelet activation	cytosol|nucleus	3',5'-cyclic-AMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			endometrium(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(4)	31						TGAAGAAGAGGCCCCCCCATCC	0.559													10	338	---	---	---	---					
DGKA	1606	broad.mit.edu	37	12	56347513	56347514	+	Frame_Shift_Ins	INS	-	-	C			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr12:56347513_56347514insC	ENST00000331886.5	+	24	2623_2624	c.2169_2170insC	c.(2167-2172)ccccccfs	p.PP723fs	DGKA_ENST00000549079.2_3'UTR|DGKA_ENST00000551156.1_Frame_Shift_Ins_p.PP723fs|DGKA_ENST00000394147.1_Frame_Shift_Ins_p.PP723fs	NM_001345.4	NP_001336.2	P23743	DGKA_HUMAN	diacylglycerol kinase, alpha 80kDa	723					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity			breast(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(4)|pancreas(1)|skin(3)|urinary_tract(1)	25					Vitamin E(DB00163)	TCATGGGCCCACCCCCCCGCTC	0.579													9	308	---	---	---	---					
DCTN2	10540	broad.mit.edu	37	12	57927805	57927806	+	Frame_Shift_Ins	INS	-	-	G			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr12:57927805_57927806insG	ENST00000548249.1	-	7	866_867	c.599_600insC	c.(598-600)cgafs	p.R200fs	DCTN2_ENST00000537439.1_Frame_Shift_Ins_p.R177fs|DCTN2_ENST00000434715.3_Frame_Shift_Ins_p.R205fs|DCTN2_ENST00000543672.1_Frame_Shift_Ins_p.R205fs	NM_001261412.1|NM_001261413.1	NP_001248341.1|NP_001248342.1	Q13561	DCTN2_HUMAN	dynactin 2 (p50)	200					cell proliferation|G2/M transition of mitotic cell cycle|mitosis	centrosome|cytosol|dynactin complex|dynein complex|kinetochore|membrane|microtubule|vesicle	motor activity|protein binding			endometrium(1)|large_intestine(4)|lung(2)|ovary(2)|upper_aerodigestive_tract(2)	11						GGCTGCTATCTGGGGGGGTCCC	0.500													7	99	---	---	---	---					
BEST3	144453	broad.mit.edu	37	12	70049361	70049362	+	Frame_Shift_Ins	INS	-	-	G			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr12:70049361_70049362insG	ENST00000330891.5	-	10	1558_1559	c.1332_1333insC	c.(1330-1335)ccgggcfs	p.PG444fs	BEST3_ENST00000553096.1_Frame_Shift_Ins_p.PG338fs|BEST3_ENST00000331471.4_Intron|BEST3_ENST00000488961.1_Frame_Shift_Ins_p.PG231fs	NM_032735.2	NP_116124.2	Q8N1M1	BEST3_HUMAN	bestrophin 3	444						chloride channel complex|plasma membrane	chloride channel activity			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			GGTGAGGCCCTGGGGGGGTTTC	0.594													9	199	---	---	---	---					
TMTC3	160418	broad.mit.edu	37	12	88553910	88553910	+	Frame_Shift_Del	DEL	G	G	-			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr12:88553910delG	ENST00000266712.6	+	5	748	c.528delG	c.(526-528)ttfs	p.L176fs		NM_181783.3	NP_861448.2	Q6ZXV5	TMTC3_HUMAN	transmembrane and tetratricopeptide repeat containing 3	176						integral to membrane	binding			NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|liver(1)|lung(12)|prostate(4)|skin(1)	31						CAATTGCCTTGACAGTGTTTT	0.308													155	321	---	---	---	---					
MSI1	4440	broad.mit.edu	37	12	120800902	120800903	+	Frame_Shift_Ins	INS	-	-	C			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr12:120800902_120800903insC	ENST00000257552.2	-	6	433_434	c.345_346insG	c.(343-348)ggtgtcfs	p.V116fs		NM_002442.3	NP_002433.1	O43347	MSI1H_HUMAN	musashi RNA-binding protein 1	116	RRM 2.				nervous system development	cytoplasm|nucleus	nucleotide binding			breast(4)|central_nervous_system(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(5)|skin(2)	19	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TTCACCGACAGCCCCCCCACAA	0.564													7	151	---	---	---	---					
PGAM5	192111	broad.mit.edu	37	12	133294121	133294121	+	Frame_Shift_Del	DEL	C	C	-			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr12:133294121delC	ENST00000498926.2	+	3	525	c.467delC	c.(466-468)acfs	p.T157fs	PXMP2_ENST00000545677.1_3'UTR|PGAM5_ENST00000454808.2_Frame_Shift_Del_p.T8fs|PGAM5_ENST00000543955.1_Frame_Shift_Del_p.T8fs|PGAM5_ENST00000317555.2_Frame_Shift_Del_p.T157fs	NM_001170543.1|NM_001170544.1	NP_001164014.1|NP_001164015.1	Q96HS1	PGAM5_HUMAN	phosphoglycerate mutase family member 5	157						integral to membrane|mitochondrial outer membrane	phosphoprotein phosphatase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	5	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.89e-08)|Epithelial(86;1.14e-07)|all cancers(50;3.57e-06)		GCCATAGAGACCACCGATATC	0.632													2	4	---	---	---	---					
ATP12A	479	broad.mit.edu	37	13	25262563	25262564	+	Frame_Shift_Ins	INS	-	-	G	rs35191129		TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr13:25262563_25262564insG	ENST00000218548.6	+	4	668_669	c.335_336insG	c.(334-336)gggfs	p.G112fs	ATP12A_ENST00000381946.3_Frame_Shift_Ins_p.G112fs	NM_001185085.1|NM_001676.5	NP_001172014.1|NP_001667.4	P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	112					ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding	p.V112V(1)		breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	Esomeprazole(DB00736)|Pantoprazole(DB00213)	AAGCAGATGGTGGGGGGGTTCT	0.584													21	696	---	---	---	---					
KBTBD6	89890	broad.mit.edu	37	13	41705321	41705322	+	Frame_Shift_Ins	INS	-	-	C	rs147771080		TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr13:41705321_41705322insC	ENST00000379485.1	-	1	1560_1561	c.1326_1327insG	c.(1324-1329)gggagafs	p.R443fs	KBTBD6_ENST00000499385.2_Frame_Shift_Ins_p.R377fs	NM_152903.4	NP_690867.3	Q86V97	KBTB6_HUMAN	kelch repeat and BTB (POZ) domain containing 6	443							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)		ATAGGGTCTCGCCCCCCCAAAA	0.470													8	233	---	---	---	---					
ARHGEF40	55701	broad.mit.edu	37	14	21546603	21546604	+	Frame_Shift_Ins	INS	-	-	G			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr14:21546603_21546604insG	ENST00000298694.4	+	10	2329_2330	c.2202_2203insG	c.(2200-2205)gaggggfs	p.EG734fs	ARHGEF40_ENST00000298693.3_Frame_Shift_Ins_p.EG734fs			Q8TER5	ARH40_HUMAN	Rho guanine nucleotide exchange factor (GEF) 40	734					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			large_intestine(4)|ovary(3)|upper_aerodigestive_tract(2)	9						TGCAGAGGGATGGGGGGGCCAT	0.629													13	259	---	---	---	---					
AKAP6	9472	broad.mit.edu	37	14	32902724	32902725	+	Frame_Shift_Ins	INS	-	-	C			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr14:32902724_32902725insC	ENST00000280979.4	+	2	195_196	c.25_26insC	c.(25-27)cccfs	p.P9fs	AKAP6_ENST00000554449.1_3'UTR|AKAP6_ENST00000557354.1_Frame_Shift_Ins_p.P9fs|AKAP6_ENST00000557272.1_Frame_Shift_Ins_p.P9fs	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	9					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)		CGTGACACTTTCCCCCCTGAGG	0.505													8	970	---	---	---	---					
KCNH5	27133	broad.mit.edu	37	14	63174302	63174303	+	Frame_Shift_Ins	INS	-	-	G	rs35940222		TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr14:63174302_63174303insG	ENST00000322893.7	-	11	3158_3159	c.2890_2891insC	c.(2890-2892)gatfs	p.D964fs	KCNH5_ENST00000420622.2_3'UTR	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	964					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		ACATGGTATCTGGGGGGGTACT	0.391													10	209	---	---	---	---					
YLPM1	56252	broad.mit.edu	37	14	75248518	75248519	+	Frame_Shift_Ins	INS	-	-	C			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr14:75248518_75248519insC	ENST00000325680.7	+	4	1896_1897	c.1772_1773insC	c.(1771-1773)cccfs	p.P591fs	YLPM1_ENST00000238571.3_Intron|YLPM1_ENST00000552421.1_Frame_Shift_Ins_p.P591fs	NM_019589.2	NP_062535.2	P49750	YLPM1_HUMAN	YLP motif containing 1	392					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck				breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		CCACCAGTTCTCCCCCCACCTT	0.599													8	341	---	---	---	---					
OR4M2	390538	broad.mit.edu	37	15	22369023	22369024	+	Frame_Shift_Ins	INS	-	-	G			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr15:22369023_22369024insG	ENST00000332663.2	+	1	546_547	c.448_449insG	c.(448-450)gggfs	p.G150fs	RP11-69H14.6_ENST00000558896.1_RNA	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M, member 2	150					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R150M(2)|p.R150W(1)		NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		TCTCTCCTGGAGGGGGGGCTTC	0.500													15	406	---	---	---	---					
MAPKBP1	23005	broad.mit.edu	37	15	42092080	42092080	+	Frame_Shift_Del	DEL	C	C	-			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr15:42092080delC	ENST00000457542.2	+	3	460	c.174delC	c.(172-174)gafs	p.D58fs	MAPKBP1_ENST00000507762.1_3'UTR|MAPKBP1_ENST00000514566.1_Frame_Shift_Del_p.D58fs|MAPKBP1_ENST00000221214.6_Frame_Shift_Del_p.D58fs|MAPKBP1_ENST00000260357.7_Intron|MAPKBP1_ENST00000456763.2_Frame_Shift_Del_p.D58fs	NM_014994.2	NP_055809.2	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein 1	58										breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		TTGCCTGTGACCCCCGATCAG	0.502													80	227	---	---	---	---					
PRTG	283659	broad.mit.edu	37	15	55912218	55912219	+	Frame_Shift_Ins	INS	-	-	G			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr15:55912218_55912219insG	ENST00000389286.4	-	20	3491_3492	c.3444_3445insC	c.(3442-3447)ccacctfs	p.P1149fs		NM_173814.4	NP_776175.2	Q2VWP7	PRTG_HUMAN	protogenin	1149					multicellular organismal development	integral to membrane				breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41				all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)		AATCAGAGGTTGGGGGGTGTGG	0.490													7	246	---	---	---	---					
UACA	55075	broad.mit.edu	37	15	70991941	70991942	+	Frame_Shift_Ins	INS	-	-	C	rs139520381		TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr15:70991941_70991942insC	ENST00000322954.6	-	2	321_322	c.136_137insG	c.(136-138)tgtfs	p.C46fs	UACA_ENST00000560441.1_Frame_Shift_Ins_p.C33fs|UACA_ENST00000379983.2_Frame_Shift_Ins_p.C33fs|UACA_ENST00000539319.1_Frame_Shift_Ins_p.C46fs	NM_018003.2	NP_060473.2	Q9BZF9	UACA_HUMAN	uveal autoantigen with coiled-coil domains and ankyrin repeats	46						cytoskeleton|extracellular region				breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						TTTTTCTACATCCCCCCTTTCT	0.371													7	902	---	---	---	---					
GRIN2A	2903	broad.mit.edu	37	16	10273964	10273964	+	Frame_Shift_Del	DEL	T	T	-			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr16:10273964delT	ENST00000396573.2	-	3	614	c.305delA	c.(304-306)gcfs	p.D103fs	GRIN2A_ENST00000404927.2_Frame_Shift_Del_p.D103fs|GRIN2A_ENST00000562109.1_Frame_Shift_Del_p.D103fs|GRIN2A_ENST00000396575.2_Frame_Shift_Del_p.D103fs|GRIN2A_ENST00000330684.3_Frame_Shift_Del_p.D103fs	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	103					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GTCCGTGTCGTCCCCAAACAC	0.602													31	142	---	---	---	---					
NOMO1	23420	broad.mit.edu	37	16	14980694	14980695	+	Frame_Shift_Ins	INS	-	-	C			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr16:14980694_14980695insC	ENST00000287667.7	+	28	3470_3471	c.3299_3300insC	c.(3298-3300)tccfs	p.S1100fs		NM_014287.3	NP_055102.3	Q15155	NOMO1_HUMAN	NODAL modulator 1	1100						integral to membrane	carbohydrate binding|carboxypeptidase activity|protein binding			endometrium(6)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|skin(2)	30						TTCTTCCATTTCCCCCCACTGC	0.475													9	453	---	---	---	---					
POLR3E	55718	broad.mit.edu	37	16	22339833	22339834	+	Frame_Shift_Ins	INS	-	-	C			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr16:22339833_22339834insC	ENST00000299853.5	+	19	2036_2037	c.1869_1870insC	c.(1867-1872)ttccccfs	p.FP623fs	POLR3E_ENST00000418581.2_Frame_Shift_Ins_p.FP587fs|POLR3E_ENST00000564209.1_Frame_Shift_Ins_p.FP623fs|POLR3E_ENST00000359210.4_Frame_Shift_Ins_p.FP623fs	NM_001258033.1|NM_001258035.1|NM_018119.3	NP_001244962.1|NP_001244964.1|NP_060589.1	Q9NVU0	RPC5_HUMAN	polymerase (RNA) III (DNA directed) polypeptide E (80kD)	623					innate immune response|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA-directed RNA polymerase activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.012)		TTGGTCAGTTTCCCCCCCAGAC	0.574													7	122	---	---	---	---					
PLSCR3	57048	broad.mit.edu	37	17	7294058	7294059	+	Frame_Shift_Ins	INS	-	-	C			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr17:7294058_7294059insC	ENST00000535512.1	-	10	1742_1743	c.725_726insG	c.(724-726)gctfs	p.A242fs	C17orf61-PLSCR3_ENST00000573331.1_3'UTR|PLSCR3_ENST00000574401.1_Frame_Shift_Ins_p.A242fs|PLSCR3_ENST00000576362.1_Frame_Shift_Ins_p.A218fs|PLSCR3_ENST00000324822.11_Frame_Shift_Ins_p.A242fs|PLSCR3_ENST00000576201.1_Frame_Shift_Ins_p.A242fs			Q9NRY6	PLS3_HUMAN	phospholipid scramblase 3	242					phospholipid scrambling	integral to membrane|plasma membrane	calcium ion binding|calcium-dependent protein binding|phospholipid scramblase activity|SH3 domain binding			endometrium(1)|kidney(2)|urinary_tract(1)	4		Prostate(122;0.173)				CTCGGACCAGGCCCCCCCACTG	0.614													7	137	---	---	---	---					
TP53	7157	broad.mit.edu	37	17	7578463	7578502	+	Frame_Shift_Del	DEL	CGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCA	CGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCA	-	rs137852790		TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr17:7578463_7578502delCGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCA	ENST00000420246.2	-	5	560_599	c.428_467delTGCAGCTGTGGGTTGATTCCACACCCCCGCCCGGCACCCG	c.(427-468)gcfs	p.VQLWVDSTPPPGTR143fs	TP53_ENST00000455263.2_Frame_Shift_Del_p.VQLWVDSTPPPGTR143fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.VQLWVDSTPPPGTR143fs|TP53_ENST00000269305.4_Frame_Shift_Del_p.VQLWVDSTPPPGTR143fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.VQLWVDSTPPPGTR143fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.VQLWVDSTPPPGTR143fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	143	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		V -> A (in sporadic cancers; somatic mutation; strong DNA binding ability at 32.5 degrees Celsius; strong reduction of transcriptional activity at 37.5 degrees Celsius).|V -> E (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).|V -> M (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.W146*(72)|p.P151S(68)|p.P152L(66)|p.G154V(46)|p.Q144*(36)|p.P151H(31)|p.R156P(24)|p.T155N(22)|p.P152S(22)|p.V143A(18)|p.P152fs*18(18)|p.L145Q(17)|p.L145P(17)|p.T155P(17)|p.P151T(16)|p.T155I(14)|p.P151A(13)|p.G154G(12)|p.P151P(12)|p.R156fs*14(11)|p.P153fs*28(11)|p.R156H(10)|p.T155A(10)|p.G154S(9)|p.P151R(9)|p.L145L(8)|p.P152R(8)|p.0?(8)|p.Q144L(8)|p.P153S(8)|p.L145R(7)|p.P151fs*30(7)|p.P152T(7)|p.P151L(7)|p.P153P(7)|p.G154D(6)|p.T150fs*16(6)|p.V147G(6)|p.S149S(6)|p.S149F(6)|p.V147I(6)|p.P153L(6)|p.V147D(5)|p.P152fs*29(5)|p.V143E(5)|p.V147fs*23(5)|p.W146R(5)|p.T155T(5)|p.S149fs*32(5)|p.P152P(5)|p.P152fs*14(5)|p.?(5)|p.G154C(4)|p.P152Q(4)|p.T150I(4)|p.Q144H(4)|p.D148E(4)|p.Q144R(4)|p.Q144P(4)|p.D148N(4)|p.S149P(4)|p.W146S(4)|p.W14*(3)|p.P152fs*28(3)|p.G61V(3)|p.R156S(3)|p.R156fs*25(3)|p.R156G(3)|p.R156L(3)|p.Q144fs*25(3)|p.Q144fs*26(3)|p.G154I(3)|p.W53*(3)|p.T155_R156insDSTPPPGT(3)|p.S149fs*21(3)|p.G22V(3)|p.P153T(3)|p.G154fs*27(3)|p.V147V(3)|p.Q12*(2)|p.D148fs*33(2)|p.S149T(2)|p.T155fs*23(2)|p.L145V(2)|p.P58H(2)|p.P58A(2)|p.P58S(2)|p.V147A(2)|p.R156C(2)|p.G154fs*16(2)|p.G154fs*14(2)|p.R156_I162delRVRAMAI(2)|p.V143V(2)|p.P152A(2)|p.T155S(2)|p.Q51*(2)|p.Q144del(2)|p.V11A(2)|p.Q144K(2)|p.V50A(2)|p.P20L(2)|p.P59L(2)|p.D148V(2)|p.Q144Q(2)|p.P153fs*26(2)|p.P153fs*22(2)|p.D148fs*23(2)|p.D148fs*22(2)|p.W146C(2)|p.P19S(2)|p.P19H(2)|p.P19A(2)|p.L137_W146del10(1)|p.T23_R24insDSTPPPGT(1)|p.T150R(1)|p.R156_V157del(1)|p.D148fs*34(1)|p.D148fs*32(1)|p.L145del(1)|p.P152fs*27(1)|p.G154_R156delGTR(1)|p.T155fs*26(1)|p.T155fs*25(1)|p.W146fs*25(1)|p.W146fs*22(1)|p.W146fs*23(1)|p.T155_A161delTRVRAMA(1)|p.G61C(1)|p.W14S(1)|p.P58T(1)|p.P58R(1)|p.Q144_G154del11(1)|p.W146_V147insXXXXXXX(1)|p.P151del(1)|p.T150fs*31(1)|p.Q144fs*32(1)|p.D148_T155delDSTPPPGT(1)|p.R156_A161delRVRAMA(1)|p.R156del(1)|p.R156fs*12(1)|p.R156fs*18(1)|p.T150fs*23(1)|p.W53S(1)|p.T57fs*16(1)|p.A138_V143delAKTCPV(1)|p.T150_P153delTPPP(1)|p.T62P(1)|p.G154A(1)|p.Q51fs*25(1)|p.P152del(1)|p.T62A(1)|p.V143G(1)|p.S149fs*72(1)|p.T62N(1)|p.T62I(1)|p.Q144fs*16(1)|p.P153_G154insX(1)|p.K139fs*4(1)|p.C141fs*5(1)|p.P152_P153del(1)|p.R156_R158delRVR(1)|p.P20R(1)|p.W146_S149>C(1)|p.T23P(1)|p.T150K(1)|p.T23A(1)|p.T23N(1)|p.S149fs*17(1)|p.T23I(1)|p.L145M(1)|p.V143_S149del(1)|p.P152_P153insXXX(1)|p.T155_R156delTR(1)|p.T150_P151delTP(1)|p.Q144fs*4(1)|p.P142_Q144delPVQ(1)|p.P153fs*16(1)|p.D148Y(1)|p.P151_V173del23(1)|p.D148D(1)|p.Q12fs*25(1)|p.D148H(1)|p.P59R(1)|p.D148del(1)|p.G22C(1)|p.R156_A161del(1)|p.P153fs*20(1)|p.W146fs*1(1)|p.T62_R63insDSTPPPGT(1)|p.S149fs*31(1)|p.W146G(1)|p.V147E(1)|p.G154fs*22(1)|p.V147F(1)|p.P19R(1)|p.P19T(1)|p.P153F(1)|p.T18fs*16(1)|p.P153A(1)|p.D148*(1)|p.P153H(1)|p.T155fs*15(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)		GGCGCGGACGCGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCACAGGGCAGGT	0.592		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)			7	156	---	---	---	---					
SSH2	85464	broad.mit.edu	37	17	27959374	27959375	+	Frame_Shift_Ins	INS	-	-	G			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr17:27959374_27959375insG	ENST00000269033.3	-	15	2907_2908	c.2756_2757insC	c.(2755-2757)cgafs	p.R919fs	SSH2_ENST00000540801.1_Frame_Shift_Ins_p.R946fs|RP11-68I3.2_ENST00000581474.1_RNA	NM_033389.2	NP_203747.2	Q76I76	SSH2_HUMAN	slingshot protein phosphatase 2	919					actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity		SSH2/SUZ12(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						ATGAATGTTCTGGGGGGGCTTC	0.480													26	515	---	---	---	---					
SSH2	85464	broad.mit.edu	37	17	27963294	27963295	+	Frame_Shift_Ins	INS	-	-	G	rs35554312		TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr17:27963294_27963295insG	ENST00000269033.3	-	14	2023_2024	c.1872_1873insC	c.(1870-1875)cctgtcfs	p.V625fs	SSH2_ENST00000540801.1_Frame_Shift_Ins_p.V652fs|RP11-68I3.2_ENST00000581474.1_RNA	NM_033389.2	NP_203747.2	Q76I76	SSH2_HUMAN	slingshot protein phosphatase 2	625					actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity		SSH2/SUZ12(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TCAGGGGACATGGGGGGGTCTT	0.470													7	141	---	---	---	---					
ACACA	31	broad.mit.edu	37	17	35600370	35600371	+	Frame_Shift_Ins	INS	-	-	G			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr17:35600370_35600371insG	ENST00000353139.5	-	22	3328_3329	c.2847_2848insC	c.(2845-2850)ccatgtfs	p.C950fs	ACACA_ENST00000394406.2_Frame_Shift_Ins_p.C913fs|ACACA_ENST00000360679.3_Frame_Shift_Ins_p.C855fs|ACACA_ENST00000335166.5_Frame_Shift_Ins_p.C835fs	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	913					acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	TTCTCCACATTGGGGGGAATGC	0.470													7	702	---	---	---	---					
CA10	56934	broad.mit.edu	37	17	50008356	50008357	+	Frame_Shift_Ins	INS	-	-	C			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr17:50008356_50008357insC	ENST00000451037.2	-	3	1212_1213	c.272_273insG	c.(271-273)gagfs	p.E91fs	CA10_ENST00000285273.4_Frame_Shift_Ins_p.E91fs|CA10_ENST00000340813.6_Frame_Shift_Ins_p.E97fs|CA10_ENST00000570565.1_Frame_Shift_Ins_p.E16fs|CA10_ENST00000442502.2_Frame_Shift_Ins_p.E91fs	NM_020178.4	NP_064563.1	Q9NS85	CAH10_HUMAN	carbonic anhydrase X	91					brain development			p.G91V(1)		cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|skin(3)|stomach(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(22;4.74e-06)			TTACCTTCCTGCCCCCCGTGTT	0.490													11	692	---	---	---	---					
RP11-51L5.7	0	broad.mit.edu	37	17	60360221	60360221	+	Frame_Shift_Del	DEL	C	C	-			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr17:60360221delC	ENST00000602932.1	-	1	55	c.25delG	c.(25-27)acfs	p.D9fs	RP11-51L5.5_ENST00000602493.1_RNA																							CGGGGTAGGTCCCCATTGGTA	0.408													48	24	---	---	---	---					
MARCH10	162333	broad.mit.edu	37	17	60814265	60814266	+	Frame_Shift_Ins	INS	-	-	C			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr17:60814265_60814266insC	ENST00000544856.2	-	7	1338_1339	c.960_961insG	c.(958-963)ggcatcfs	p.I321fs	RP11-156L14.1_ENST00000582564.1_RNA|RP11-156L14.1_ENST00000577270.1_RNA|MARCH10_ENST00000456609.2_Frame_Shift_Ins_p.I322fs|MARCH10_ENST00000583600.1_Frame_Shift_Ins_p.I360fs|MARCH10_ENST00000311269.5_Frame_Shift_Ins_p.I322fs			Q8NA82	MARHA_HUMAN	membrane-associated ring finger (C3HC4) 10, E3 ubiquitin protein ligase	322							ligase activity|zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15)	38						GGGGTCGATGTCCCCCCAAATC	0.460													8	620	---	---	---	---					
FAM104A	84923	broad.mit.edu	37	17	71223356	71223357	+	Frame_Shift_Ins	INS	-	-	G			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr17:71223356_71223357insG	ENST00000405159.3	-	2	332_333	c.268_269insC	c.(268-270)gacfs	p.D90fs	FAM104A_ENST00000580032.1_5'UTR|FAM104A_ENST00000403627.3_Frame_Shift_Ins_p.D90fs|FAM104A_ENST00000581110.1_Intron|FAM104A_ENST00000583024.1_Intron|FAM104A_ENST00000583178.1_5'UTR	NM_001098832.1	NP_001092302.1	Q969W3	F104A_HUMAN	family with sequence similarity 104, member A	90										endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6			LUSC - Lung squamous cell carcinoma(166;0.197)			TCTTTTGGTCTGGGGGGGAAGA	0.416													7	168	---	---	---	---					
ALPK2	115701	broad.mit.edu	37	18	56246441	56246442	+	Frame_Shift_Ins	INS	-	-	C	rs12606191	byFrequency	TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr18:56246441_56246442insC	ENST00000361673.3	-	4	1779_1780	c.1566_1567insG	c.(1564-1569)ggaggafs	p.G523fs	ALPK2_ENST00000587399.1_5'UTR	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	523							ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						CATAAGTCCTTTCCCCCCACTC	0.520											OREG0025011	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	487	---	---	---	---					
SERPINB7	8710	broad.mit.edu	37	18	61449757	61449758	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr18:61449757_61449758delCT	ENST00000398019.2	+	2	476_477	c.151_152delCT	c.(151-153)cfs	p.L51fs	SERPINB7_ENST00000336429.2_Frame_Shift_Del_p.L51fs|SERPINB7_ENST00000546027.1_Frame_Shift_Del_p.L51fs|SERPINB7_ENST00000540675.1_Frame_Shift_Del_p.L51fs	NM_003784.3	NP_003775.1	O75635	SPB7_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 7	51					regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	27		Esophageal squamous(42;0.129)				AGATGACTCCCTCTCTCAGATT	0.470													82	345	---	---	---	---					
CNDP2	55748	broad.mit.edu	37	18	72168667	72168668	+	Frame_Shift_Ins	INS	-	-	G			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr18:72168667_72168668insG	ENST00000324262.4	+	3	480_481	c.164_165insG	c.(163-165)tggfs	p.W55fs	CNDP2_ENST00000579847.1_Frame_Shift_Ins_p.W55fs|CNDP2_ENST00000324301.8_Frame_Shift_Ins_p.W55fs	NM_018235.2	NP_060705.2	Q96KP4	CNDP2_HUMAN	CNDP dipeptidase 2 (metallopeptidase M20 family)	55						cytoplasm	carboxypeptidase activity|metal ion binding|metallopeptidase activity|protein binding|tripeptidase activity			breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(5)|ovary(2)|skin(2)|stomach(3)	24		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.22)		GTTAAGCAGTTGGGGGGCTCTG	0.520													7	326	---	---	---	---					
C3	718	broad.mit.edu	37	19	6697480	6697481	+	Frame_Shift_Ins	INS	-	-	G	rs137956083		TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr19:6697480_6697481insG	ENST00000245907.6	-	21	2762_2763	c.2670_2671insC	c.(2668-2673)ccagtcfs	p.V891fs		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	891					complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		AACGAGGACTTGGGGGGGATGG	0.574													9	293	---	---	---	---					
ZNF878	729747	broad.mit.edu	37	19	12155624	12155625	+	Frame_Shift_Ins	INS	-	-	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr19:12155624_12155625insT	ENST00000602107.1	-	5	731_732	c.732_733insA	c.(730-735)aacctafs	p.NL244fs	CTD-2006C1.2_ENST00000591898.1_RNA|CTD-2006C1.2_ENST00000476474.1_RNA|ZNF878_ENST00000547628.1_Frame_Shift_Ins_p.NL197fs|CTD-2006C1.2_ENST00000591838.1_RNA|CTD-2006C1.10_ENST00000547473.1_Intron			C9JN71	ZN878_HUMAN	zinc finger protein 878	197					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						CATTCATAGGGTTTTTTTGCAG	0.396													8	359	---	---	---	---					
C19orf40	91442	broad.mit.edu	37	19	33464113	33464114	+	Frame_Shift_Ins	INS	-	-	C			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr19:33464113_33464114insC	ENST00000588258.1	+	2	121_122	c.11_12insC	c.(10-12)accfs	p.T4fs	C19orf40_ENST00000590179.1_Intron|C19orf40_ENST00000589646.1_Intron|C19orf40_ENST00000590281.1_Frame_Shift_Ins_p.T4fs	NM_152266.3	NP_689479.1	Q9BTP7	FAP24_HUMAN	chromosome 19 open reading frame 40	4					DNA repair	Fanconi anaemia nuclear complex	chromatin binding|DNA binding|protein binding			endometrium(1)|large_intestine(2)|lung(2)|prostate(2)	7	Esophageal squamous(110;0.137)					ATGGAAAAGAACCCCCCTGATG	0.609								Direct reversal of damage					8	1451	---	---	---	---					
AXL	558	broad.mit.edu	37	19	41743932	41743933	+	Frame_Shift_Ins	INS	-	-	C			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr19:41743932_41743933insC	ENST00000301178.4	+	7	1057_1058	c.867_868insC	c.(865-870)gtccccfs	p.VP289fs	AXL_ENST00000359092.3_Frame_Shift_Ins_p.VP289fs|AXL_ENST00000593513.1_Frame_Shift_Ins_p.VP21fs	NM_001278599.1|NM_021913.3	NP_001265528.1|NP_068713.2	P30530	UFO_HUMAN	AXL receptor tyrosine kinase	289	Fibronectin type-III 1.					integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	48						AAGCATCCGTGCCCCCCCATCA	0.649													8	219	---	---	---	---					
MARK4	57787	broad.mit.edu	37	19	45805663	45805664	+	Frame_Shift_Ins	INS	-	-	C			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr19:45805663_45805664insC	ENST00000300843.4	+	18	2331_2332	c.2034_2035insC	c.(2032-2037)ccccccfs	p.PP678fs	MARK4_ENST00000262891.4_Frame_Shift_Ins_p.P652fs	NM_031417.3	NP_113605.2	Q96L34	MARK4_HUMAN	MAP/microtubule affinity-regulating kinase 4	0					microtubule bundle formation|nervous system development|positive regulation of programmed cell death	centrosome|neuron projection	ATP binding|gamma-tubulin binding|microtubule binding|protein serine/threonine kinase activity|tau-protein kinase activity|ubiquitin binding			NS(1)|biliary_tract(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	31		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0102)		AACGGAAACCGCCCCCCGGCTG	0.639													7	182	---	---	---	---					
CARD8	22900	broad.mit.edu	37	19	48737669	48737670	+	Frame_Shift_Ins	INS	-	-	C			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr19:48737669_48737670insC	ENST00000391898.3	-	3	382_383	c.340_341insG	c.(340-342)catfs	p.H114fs	ZNF114_ENST00000597695.1_Intron|CARD8_ENST00000357778.5_5'UTR|CARD8_ENST00000520153.1_Frame_Shift_Ins_p.H64fs|CARD8_ENST00000447740.2_Frame_Shift_Ins_p.H64fs|CARD8_ENST00000520015.1_Frame_Shift_Ins_p.H114fs|CARD8_ENST00000521613.1_Frame_Shift_Ins_p.H64fs|CARD8_ENST00000520753.1_Frame_Shift_Ins_p.H114fs|CARD8_ENST00000519940.1_Frame_Shift_Ins_p.H114fs|CARD8_ENST00000359009.4_Frame_Shift_Ins_p.I23fs	NM_001184900.1	NP_001171829.1	Q9Y2G2	CARD8_HUMAN	caspase recruitment domain family, member 8	0					negative regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion	cytoplasm|nucleus	caspase activator activity|NACHT domain binding|protein homodimerization activity			endometrium(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1)	15		all_lung(116;0.000112)|Lung NSC(112;0.000192)|all_epithelial(76;0.000349)|all_neural(266;0.0228)|Ovarian(192;0.113)|Prostate(7;0.184)		OV - Ovarian serous cystadenocarcinoma(262;0.000112)|all cancers(93;0.000293)|Epithelial(262;0.0129)|GBM - Glioblastoma multiforme(486;0.0336)		CCTGGGAATGTCCCCCCCAGAT	0.436													8	269	---	---	---	---					
ZNF160	90338	broad.mit.edu	37	19	53571731	53571732	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr19:53571731_53571732delAG	ENST00000601421.1	-	3	2823_2824	c.1947_1948delCT	c.(1945-1950)gttcfs	p.VF649fs	ZNF160_ENST00000429604.1_Frame_Shift_Del_p.VF685fs|ZNF160_ENST00000418871.1_Frame_Shift_Del_p.VF685fs|ZNF160_ENST00000599056.1_Frame_Shift_Del_p.VF685fs			Q9HCG1	ZN160_HUMAN	zinc finger protein 160	685					hemopoiesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	35				GBM - Glioblastoma multiforme(134;0.02)		TTCTGAGTGAAGACCTTGCCAC	0.441													32	375	---	---	---	---					
CST4	1472	broad.mit.edu	37	20	23667825	23667826	+	Frame_Shift_Ins	INS	-	-	C	rs140501583		TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr20:23667825_23667826insC	ENST00000217423.3	-	2	311_312	c.241_242insG	c.(241-243)gaafs	p.E81fs		NM_001899.2	NP_001890.1	P01036	CYTS_HUMAN	cystatin S	81						extracellular region	cysteine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|large_intestine(2)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	16	Lung NSC(19;0.0789)|Colorectal(13;0.0993)|all_lung(19;0.169)					GAAGTAATTCACCCCCCCAAAG	0.554													13	361	---	---	---	---					
CST1	1469	broad.mit.edu	37	20	23729753	23729754	+	Frame_Shift_Ins	INS	-	-	C			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr20:23729753_23729754insC	ENST00000304749.2	-	2	311_312	c.241_242insG	c.(241-243)gaafs	p.E81fs	CST1_ENST00000398402.1_Frame_Shift_Ins_p.E81fs	NM_001898.2	NP_001889.2	P01037	CYTN_HUMAN	cystatin SN	81						extracellular region	cysteine-type endopeptidase inhibitor activity			kidney(1)|large_intestine(1)|lung(8)|ovary(1)|stomach(1)|urinary_tract(1)	13	Lung NSC(19;0.0676)|all_lung(19;0.148)					GAAGTAATTCACCCCCCCAACG	0.554													13	377	---	---	---	---					
RALGAPB	57148	broad.mit.edu	37	20	37146232	37146233	+	Frame_Shift_Ins	INS	-	-	C			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr20:37146232_37146233insC	ENST00000262879.6	+	8	1419_1420	c.1135_1136insC	c.(1135-1137)cccfs	p.P379fs	RALGAPB_ENST00000397038.1_Frame_Shift_Ins_p.P157fs|RALGAPB_ENST00000537204.1_Frame_Shift_Ins_p.P379fs|RALGAPB_ENST00000397042.3_Frame_Shift_Ins_p.P379fs|RALGAPB_ENST00000397040.1_Frame_Shift_Ins_p.P379fs			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)	379					activation of Ral GTPase activity	intracellular	protein heterodimerization activity|Ral GTPase activator activity	p.H382fs*2(1)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						TGTCAGTACCACCCCCCCACAT	0.446													7	123	---	---	---	---					
SLPI	6590	broad.mit.edu	37	20	43881730	43881731	+	Frame_Shift_Ins	INS	-	-	G			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr20:43881730_43881731insG	ENST00000338380.2	-	3	326_327	c.306_307insC	c.(304-309)ccatttfs	p.F103fs		NM_003064.2	NP_003055.1	P03973	SLPI_HUMAN	secretory leukocyte peptidase inhibitor	103	Elastase inhibitory domain.|WAP 2.					extracellular region	serine-type endopeptidase inhibitor activity			lung(3)|ovary(1)	4		Myeloproliferative disorder(115;0.0122)				TCACAGAAATTGGGGGGGTTAA	0.535													11	317	---	---	---	---					
OSBPL2	9885	broad.mit.edu	37	20	60854257	60854258	+	Frame_Shift_Ins	INS	-	-	C	rs79735057		TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr20:60854257_60854258insC	ENST00000313733.3	+	7	738_739	c.536_537insC	c.(535-537)cccfs	p.P179fs	OSBPL2_ENST00000358053.2_Frame_Shift_Ins_p.P167fs|OSBPL2_ENST00000439951.2_Frame_Shift_Ins_p.P87fs	NM_144498.1	NP_653081.1	Q9H1P3	OSBL2_HUMAN	oxysterol binding protein-like 2	179					lipid transport		lipid binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;1.33e-06)			GTCAGTCACCACCCCCCCATCA	0.465													9	174	---	---	---	---					
GRIK1	2897	broad.mit.edu	37	21	30959772	30959772	+	Frame_Shift_Del	DEL	G	G	-			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr21:30959772delG	ENST00000399914.1	-	11	2183	c.1662delC	c.(1660-1662)tcfs	p.S554fs	GRIK1_ENST00000327783.4_Frame_Shift_Del_p.S569fs|GRIK1_ENST00000535441.1_Frame_Shift_Del_p.S571fs|GRIK1_ENST00000399913.1_Frame_Shift_Del_p.S569fs|GRIK1_ENST00000399909.1_Frame_Shift_Del_p.S554fs|GRIK1_ENST00000309434.7_Frame_Shift_Del_p.S571fs|GRIK1_ENST00000389125.3_Frame_Shift_Del_p.S554fs|GRIK1_ENST00000389124.2_Frame_Shift_Del_p.S569fs|GRIK1_ENST00000399907.1_Frame_Shift_Del_p.S569fs			P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	569					central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					L-Glutamic Acid(DB00142)|Topiramate(DB00273)	GGTTGAGGAAGGAGAAAACGC	0.483													44	84	---	---	---	---					
DSCAM	1826	broad.mit.edu	37	21	41514614	41514615	+	Frame_Shift_Ins	INS	-	-	G			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr21:41514614_41514615insG	ENST00000400454.1	-	18	3753_3754	c.3276_3277insC	c.(3274-3279)ccaaaafs	p.PK1092fs		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1092	Fibronectin type-III 3.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	p.E1093K(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TGGACATTTTCGGGGGGGTAAC	0.406													12	825	---	---	---	---					
CECR2	27443	broad.mit.edu	37	22	18022285	18022286	+	Frame_Shift_Ins	INS	-	-	C			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr22:18022285_18022286insC	ENST00000262608.8	+	15	2390_2391	c.2390_2391insC	c.(2389-2391)gccfs	p.A797fs	CECR2_ENST00000400573.4_Frame_Shift_Ins_p.A796fs|CECR2_ENST00000400585.2_Frame_Shift_Ins_p.A655fs	NM_031413.3	NP_113601.2	Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	838					chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport		protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		AGACCACCTGTCCCCCCCAACC	0.609													8	169	---	---	---	---					
DDX17	10521	broad.mit.edu	37	22	38895454	38895455	+	Frame_Shift_Ins	INS	-	-	C			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chr22:38895454_38895455insC	ENST00000396821.3	-	3	587_588	c.488_489insG	c.(487-489)ggafs	p.G163fs	DDX17_ENST00000432525.1_5'UTR|DDX17_ENST00000381633.3_Frame_Shift_Ins_p.G84fs	NM_001098504.1|NM_006386.4	NP_001091974.1|NP_006377.2	Q92841	DDX17_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 17	84	Helicase ATP-binding.				RNA processing	nucleus	ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity|RNA-dependent ATPase activity	p.G163fs*20(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	25	Melanoma(58;0.0286)					GACAAACATCTCCCCCCCTCAC	0.381													8	152	---	---	---	---					
USP9X	8239	broad.mit.edu	37	X	40982956	40982957	+	Frame_Shift_Ins	INS	-	-	C			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chrX:40982956_40982957insC	ENST00000324545.7	+	2	708_709	c.75_76insC	c.(73-78)caccccfs	p.HP25fs	USP9X_ENST00000378308.2_Frame_Shift_Ins_p.HP25fs	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	25				Q -> L (in Ref. 1; CAA66942).	BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						GACAGTCTCAGCCCCCCCTCCA	0.540													9	138	---	---	---	---					
SSX9	280660	broad.mit.edu	37	X	48159107	48159108	+	Frame_Shift_Ins	INS	-	-	G	rs41305745	by1000genomes	TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chrX:48159107_48159108insG	ENST00000376909.1	-	6	487_488	c.425_426insC	c.(424-426)cggfs	p.R142fs	SSX9_ENST00000407081.2_Frame_Shift_Ins_p.R142fs																breast(1)|endometrium(1)|kidney(2)|lung(2)|prostate(1)|stomach(1)	8						TTGGTTTTCCCGGGGGGCACAG	0.490													9	344	---	---	---	---					
SSX3	10214	broad.mit.edu	37	X	48209462	48209463	+	Frame_Shift_Ins	INS	-	-	G	rs6651589	byFrequency	TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chrX:48209462_48209463insG	ENST00000298396.2	-	6	477_478	c.425_426insC	c.(424-426)cggfs	p.R142fs	SSX3_ENST00000376895.1_Frame_Shift_Ins_p.R54fs|SSX3_ENST00000376893.3_Frame_Shift_Ins_p.R142fs	NM_021014.2	NP_066294.1	Q99909	SSX3_HUMAN	synovial sarcoma, X breakpoint 3	142					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding	p.P142Q(2)		endometrium(3)|large_intestine(1)|lung(9)	13						TTGGTTTTCCCGGGGGGCACAG	0.495													8	461	---	---	---	---					
KIAA2022	340533	broad.mit.edu	37	X	73963268	73963269	+	Frame_Shift_Ins	INS	-	-	C			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chrX:73963268_73963269insC	ENST00000373468.1	-	3	1774_1775	c.1123_1124insG	c.(1123-1125)ggafs	p.G375fs	KIAA2022_ENST00000055682.5_Frame_Shift_Ins_p.G375fs			Q5QGS0	K2022_HUMAN	KIAA2022	375					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						TTTATCTTCCTCCCCCCAGATG	0.475													13	640	---	---	---	---					
GPR112	139378	broad.mit.edu	37	X	135426885	135426886	+	Frame_Shift_Ins	INS	-	-	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	c705e3ce-3e8c-497a-8091-04fd4d369afd	g.chrX:135426885_135426886insA	ENST00000394143.1	+	6	1311_1312	c.1020_1021insA	c.(1018-1023)ataaaafs	p.IK340fs	GPR112_ENST00000370652.1_Frame_Shift_Ins_p.IK340fs|GPR112_ENST00000287534.4_Frame_Shift_Ins_p.IK277fs|GPR112_ENST00000412101.1_Frame_Shift_Ins_p.IK135fs|GPR112_ENST00000394141.1_Frame_Shift_Ins_p.IK135fs	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	340					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)					CCAATTCCATGAAAAAAACGAA	0.386													8	641	---	---	---	---					
VPS13D	55187	broad.mit.edu	37	1	12422832	12422833	+	Frame_Shift_Ins	INS	-	-	C			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr1:12422832_12422833insC	ENST00000358136.3	+	51	10328_10329	c.10198_10199insC	c.(10198-10200)cccfs	p.P3400fs	VPS13D_ENST00000356315.4_Frame_Shift_Ins_p.P3375fs	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	3399					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		GGTCATCTTTGCCCCCCGTTAC	0.426													14	849	---	---	---	---					
PHACTR4	65979	broad.mit.edu	37	1	28800272	28800273	+	Frame_Shift_Ins	INS	-	-	C			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr1:28800272_28800273insC	ENST00000373839.3	+	7	1291_1292	c.1030_1031insC	c.(1030-1032)cccfs	p.P344fs	PHACTR4_ENST00000493669.1_3'UTR|PHACTR4_ENST00000373836.3_Frame_Shift_Ins_p.P354fs	NM_001048183.1	NP_001041648.1	Q8IZ21	PHAR4_HUMAN	phosphatase and actin regulator 4	344	Pro-rich.						actin binding|protein phosphatase inhibitor activity	p.P356fs*33(1)		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)		TCGCTCTCCGTCCCCCCCACTG	0.515													14	430	---	---	---	---					
FGGY	55277	broad.mit.edu	37	1	59812016	59812017	+	Frame_Shift_Ins	INS	-	-	G	rs145440779	by1000genomes	TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr1:59812016_59812017insG	ENST00000371218.4	+	4	595_596	c.411_412insG	c.(409-414)gtggggfs	p.VG137fs	FGGY_ENST00000371212.1_Intron|FGGY_ENST00000303721.7_Frame_Shift_Ins_p.VG137fs|FGGY_ENST00000474476.1_3'UTR	NM_001113411.1	NP_001106882.1	Q96C11	FGGY_HUMAN	FGGY carbohydrate kinase domain containing	137					carbohydrate metabolic process|cell death|neuron homeostasis		kinase activity|phosphotransferase activity, alcohol group as acceptor			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(7;7.36e-05)					TCCAGTACGTCGGGGGGGTGAT	0.500													14	214	---	---	---	---					
F3	2152	broad.mit.edu	37	1	95001694	95001695	+	Frame_Shift_Ins	INS	-	-	C			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr1:95001694_95001695insC	ENST00000334047.7	-	3	401_402	c.238_239insG	c.(238-240)atgfs	p.M80fs	F3_ENST00000480356.1_5'UTR|F3_ENST00000370207.4_Frame_Shift_Ins_p.M80fs	NM_001993.4	NP_001984.1	P13726	TF_HUMAN	coagulation factor III (thromboplastin, tissue factor)	80					activation of caspase activity|activation of plasma proteins involved in acute inflammatory response|anti-apoptosis|blood coagulation, extrinsic pathway|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of platelet-derived growth factor receptor signaling pathway|positive regulation of protein kinase B signaling cascade	extracellular matrix|extracellular space|integral to membrane	cell surface binding|phospholipid binding|protease binding			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(7)	14		all_lung(203;0.00106)|Lung NSC(277;0.00475)		all cancers(265;0.0232)|Epithelial(280;0.121)	Coagulation factor VIIa(DB00036)	GTAAAAGCATTTGCTTTTCCAA	0.446													13	340	---	---	---	---					
OVGP1	5016	broad.mit.edu	37	1	111959046	111959047	+	Frame_Shift_Ins	INS	-	-	C			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr1:111959046_111959047insC	ENST00000369732.3	-	10	1109_1110	c.1054_1055insG	c.(1054-1056)catfs	p.H352fs	OVGP1_ENST00000540696.1_3'UTR	NM_002557.3	NP_002548.3	Q12889	OVGP1_HUMAN	oviductal glycoprotein 1, 120kDa	352					chitin catabolic process|female pregnancy|single fertilization	transport vesicle	cation binding|chitinase activity			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	39		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)		CCACACCATGGCCCCCCCAAAA	0.505													17	317	---	---	---	---					
TDRD10	126668	broad.mit.edu	37	1	154493907	154493908	+	Frame_Shift_Ins	INS	-	-	C			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr1:154493907_154493908insC	ENST00000368482.4	+	6	1159_1160	c.321_322insC	c.(319-324)agccccfs	p.SP107fs	TDRD10_ENST00000479937.1_3'UTR|TDRD10_ENST00000368480.3_Frame_Shift_Ins_p.SP107fs	NM_001098475.1|NM_182499.3	NP_001091945.1|NP_872305.3	Q5VZ19	TDR10_HUMAN	tudor domain containing 10	107	RRM.						nucleotide binding|RNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			CAAGCAAAAGGCCCCCCAAGAG	0.520													8	301	---	---	---	---					
ASH1L	55870	broad.mit.edu	37	1	155491185	155491186	+	Frame_Shift_Ins	INS	-	-	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr1:155491185_155491186insT	ENST00000368346.3	-	2	764_765	c.125_126insA	c.(124-126)aacfs	p.N42fs	ASH1L_ENST00000548830.1_Frame_Shift_Ins_p.N42fs|ASH1L_ENST00000392403.3_Frame_Shift_Ins_p.N42fs			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	42					cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			CCTCCTTTGTGTTTTTTTCTAG	0.431													9	1277	---	---	---	---					
KIRREL	55243	broad.mit.edu	37	1	158058202	158058203	+	Frame_Shift_Ins	INS	-	-	C			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr1:158058202_158058203insC	ENST00000368172.1	+	4	408_409	c.396_397insC	c.(394-399)aaccccfs	p.NP132fs	KIRREL_ENST00000416935.2_Frame_Shift_Ins_p.NP234fs|KIRREL_ENST00000392272.2_Frame_Shift_Ins_p.NP231fs|KIRREL_ENST00000359209.6_Frame_Shift_Ins_p.NP334fs|KIRREL_ENST00000368173.3_Frame_Shift_Ins_p.NP334fs|KIRREL_ENST00000360089.4_Frame_Shift_Ins_p.NP170fs			Q96J84	KIRR1_HUMAN	kin of IRRE like (Drosophila)	334	Ig-like C2-type 2.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1)	38	all_hematologic(112;0.0378)					GGGTTGGGAATCCCCCCCTCAC	0.455													8	270	---	---	---	---					
CD1C	911	broad.mit.edu	37	1	158262099	158262100	+	Frame_Shift_Ins	INS	-	-	C			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr1:158262099_158262100insC	ENST00000368170.3	+	3	833_834	c.554_555insC	c.(553-555)tccfs	p.S185fs		NM_001765.2	NP_001756.2	P29017	CD1C_HUMAN	CD1c molecule	185					antigen processing and presentation|T cell activation involved in immune response	endosome membrane|integral to plasma membrane	endogenous lipid antigen binding|exogenous lipid antigen binding|glycolipid binding|lipopeptide binding			NS(1)|endometrium(3)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	39	all_hematologic(112;0.0378)					AGAAGCACTTGCCCCCGATTTC	0.450													7	2000	---	---	---	---					
XCL2	6846	broad.mit.edu	37	1	168510352	168510352	+	Frame_Shift_Del	DEL	A	A	-			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr1:168510352delA	ENST00000367819.2	-	3	215	c.183delT	c.(181-183)atfs	p.I61fs		NM_003175.3	NP_003166.1	Q9UBD3	XCL2_HUMAN	chemokine (C motif) ligand 2	61					blood circulation|chemotaxis|immune response|signal transduction	extracellular space	chemokine activity			large_intestine(1)|lung(6)|ovary(1)	8	all_hematologic(923;0.215)					CACGTTTGGTAATAAAACTGT	0.468													22	406	---	---	---	---					
XCL1	6375	broad.mit.edu	37	1	168550290	168550290	+	Splice_Site	DEL	T	T	-			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr1:168550290delT	ENST00000367818.3	+	3	342	c.176_splice	c.e3-1	p.I59_splice		NM_002995.2	NP_002986.1	P47992	XCL1_HUMAN	chemokine (C motif) ligand 1	59					CD4-positive, alpha-beta T cell proliferation|CD8-positive, alpha-beta T cell proliferation|cell-cell signaling|cellular response to interleukin-4|cellular response to transforming growth factor beta stimulus|immunoglobulin production in mucosal tissue|lymphocyte chemotaxis|negative regulation of interferon-gamma production|negative regulation of interleukin-2 production|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of T cell cytokine production|negative regulation of T-helper 1 cell activation|negative regulation of transcription, DNA-dependent|neutrophil chemotaxis|positive regulation of activated T cell proliferation|positive regulation of B cell chemotaxis|positive regulation of granzyme A production|positive regulation of granzyme B production|positive regulation of interleukin-10 production|positive regulation of natural killer cell chemotaxis|positive regulation of neutrophil chemotaxis|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of T cell chemotaxis|positive regulation of T cell cytokine production|positive regulation of T cell mediated cytotoxicity|positive regulation of thymocyte migration|positive regulation of transforming growth factor-beta production|regulation of inflammatory response|release of sequestered calcium ion into cytosol|response to virus|T-helper 1 cell cytokine production|T-helper 2 cell cytokine production	extracellular space	chemokine activity|protein homodimerization activity			kidney(2)|lung(7)|upper_aerodigestive_tract(1)	10	all_hematologic(923;0.208)					TGCGTTACAGTTTTATTACCA	0.463													10	97	---	---	---	---					
ATP2B4	493	broad.mit.edu	37	1	203667345	203667346	+	Frame_Shift_Ins	INS	-	-	C			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr1:203667345_203667346insC	ENST00000357681.5	+	3	1377_1378	c.254_255insC	c.(253-255)accfs	p.T85fs	ATP2B4_ENST00000367218.3_Frame_Shift_Ins_p.T85fs|ATP2B4_ENST00000341360.2_Frame_Shift_Ins_p.T85fs|ATP2B4_ENST00000391954.2_Frame_Shift_Ins_p.T85fs|ATP2B4_ENST00000367219.3_Frame_Shift_Ins_p.T85fs	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	ATPase, Ca++ transporting, plasma membrane 4	85					ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			CACAACGTGATCCCCCCCAAAA	0.480													9	181	---	---	---	---					
GOLT1A	127845	broad.mit.edu	37	1	204170835	204170836	+	Frame_Shift_Ins	INS	-	-	C			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr1:204170835_204170836insC	ENST00000308302.3	-	3	406_407	c.221_222insG	c.(220-222)ggtfs	p.G74fs		NM_198447.1	NP_940849.1	Q6ZVE7	GOT1A_HUMAN	golgi transport 1A	74					protein transport|vesicle-mediated transport	Golgi membrane|integral to membrane				kidney(1)|lung(2)|urinary_tract(1)	4	all_cancers(21;0.0165)|Breast(84;0.179)|all_epithelial(62;0.242)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.244)			CGATAACCACACCCCCCAGGAG	0.545													8	571	---	---	---	---					
CR2	1380	broad.mit.edu	37	1	207642043	207642044	+	Frame_Shift_Ins	INS	-	-	C			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr1:207642043_207642044insC	ENST00000367057.3	+	3	806_807	c.617_618insC	c.(616-618)gccfs	p.A206fs	CR2_ENST00000458541.2_Frame_Shift_Ins_p.A206fs|CR2_ENST00000485707.1_3'UTR|CR2_ENST00000367059.3_Frame_Shift_Ins_p.A206fs|CR2_ENST00000367058.3_Frame_Shift_Ins_p.A206fs	NM_001006658.2	NP_001006659.1	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	206	Sushi 3.				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity	p.T209fs*10(1)		NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						TGGAGTGCTGTCCCCCCCACAT	0.396													13	334	---	---	---	---					
DIEXF	27042	broad.mit.edu	37	1	210014266	210014267	+	Frame_Shift_Ins	INS	-	-	C			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr1:210014266_210014267insC	ENST00000491415.2	+	8	1408_1409	c.1351_1352insC	c.(1351-1353)cccfs	p.P451fs		NM_014388.6	NP_055203.4	Q68CQ4	DIEXF_HUMAN	digestive organ expansion factor homolog (zebrafish)	451					multicellular organismal development	nucleus				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(15)|large_intestine(7)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(2)	53						CCTCATTGCTTCCCCCCTGGGC	0.465													7	324	---	---	---	---					
SIPA1L2	57568	broad.mit.edu	37	1	232650637	232650638	+	Frame_Shift_Ins	INS	-	-	G			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr1:232650637_232650638insG	ENST00000366630.1	-	2	806_807	c.448_449insC	c.(448-450)aagfs	p.K150fs	SIPA1L2_ENST00000262861.4_Frame_Shift_Ins_p.K150fs			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	150					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				AAGTCCTCTTTGGGGGGAATGG	0.490													7	525	---	---	---	---					
KCNS3	3790	broad.mit.edu	37	2	18112337	18112338	+	Frame_Shift_Ins	INS	-	-	G	rs35579067		TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr2:18112337_18112338insG	ENST00000403915.1	+	3	513_514	c.62_63insG	c.(61-63)gggfs	p.G21fs	KCNS3_ENST00000304101.4_Frame_Shift_Ins_p.G21fs|KCNS3_ENST00000465292.1_Intron			Q9BQ31	KCNS3_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 3	21					energy reserve metabolic process|regulation of insulin secretion	Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium channel regulator activity			endometrium(5)|kidney(1)|large_intestine(7)|lung(11)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					AACCTGAATGTGGGGGGCTTTA	0.535													7	345	---	---	---	---					
NFU1	27247	broad.mit.edu	37	2	69659083	69659084	+	Translation_Start_Site	DEL	CT	CT	-			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr2:69659083_69659084delCT	ENST00000394305.1	-	0	404_405				NFU1_ENST00000303698.3_Frame_Shift_Del_p.Q15fs|NFU1_ENST00000410022.2_Frame_Shift_Del_p.Q39fs|NFU1_ENST00000471185.1_5'UTR	NM_001002756.2	NP_001002756.1	Q9UMS0	NFU1_HUMAN	NFU1 iron-sulfur cluster scaffold homolog (S. cerevisiae)						iron-sulfur cluster assembly	cytosol|mitochondrion|nucleus	4 iron, 4 sulfur cluster binding|iron ion binding|protein binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)	7						TTTGTACAAACTGATGCAGAGG	0.371													23	77	---	---	---	---					
ALMS1	7840	broad.mit.edu	37	2	73678333	73678333	+	Frame_Shift_Del	DEL	C	C	-			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr2:73678333delC	ENST00000264448.6	+	8	4787	c.4676delC	c.(4675-4677)aafs	p.T1560fs	ALMS1_ENST00000409009.1_Frame_Shift_Del_p.T1518fs|ALMS1_ENST00000377715.1_Frame_Shift_Del_p.T1560fs	NM_015120.4	NP_055935.4	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	1560	34 X 47 AA approximate tandem repeat.				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						GCTGACCAGACAACTGGCATA	0.468													47	233	---	---	---	---					
LINC00152	112597	broad.mit.edu	37	2	87865524	87865525	+	RNA	INS	-	-	C			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr2:87865524_87865525insC	ENST00000409054.1	+	0	278					NR_015395.1																						AAAATAAATTTCCCCCCAGAAC	0.455													7	540	---	---	---	---					
IGKV1D-43	28891	broad.mit.edu	37	2	90249072	90249072	+	RNA	DEL	A	A	-			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr2:90249072delA	ENST00000468879.1	+	0	236																											AATTGTATGGACATTTGTGTT	0.473													66	130	---	---	---	---					
IL1R2	7850	broad.mit.edu	37	2	102638681	102638682	+	Frame_Shift_Ins	INS	-	-	C			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr2:102638681_102638682insC	ENST00000332549.3	+	6	950_951	c.721_722insC	c.(721-723)cccfs	p.P241fs	IL1R2_ENST00000393414.2_Frame_Shift_Ins_p.P241fs|IL1R2_ENST00000441002.1_Frame_Shift_Ins_p.P241fs	NM_004633.3	NP_004624.1	P27930	IL1R2_HUMAN	interleukin 1 receptor, type II	241	Ig-like C2-type 3.				immune response	integral to membrane|plasma membrane	interleukin-1, Type II, blocking receptor activity			breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)	28					Anakinra(DB00026)	TGTGATCATTTCCCCCCTCAAG	0.490													7	442	---	---	---	---					
R3HDM1	23518	broad.mit.edu	37	2	136389448	136389449	+	Frame_Shift_Ins	INS	-	-	C			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr2:136389448_136389449insC	ENST00000264160.4	+	9	945_946	c.575_576insC	c.(574-576)tccfs	p.S192fs	R3HDM1_ENST00000329971.3_Frame_Shift_Ins_p.S148fs|R3HDM1_ENST00000409606.1_Frame_Shift_Ins_p.S192fs|R3HDM1_ENST00000409478.1_Frame_Shift_Ins_p.S148fs|R3HDM1_ENST00000410054.1_Frame_Shift_Ins_p.S136fs	NM_015361.2	NP_056176.2	Q15032	R3HD1_HUMAN	R3H domain containing 1	192	R3H.						nucleic acid binding			breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	38				BRCA - Breast invasive adenocarcinoma(221;0.127)		CGTAAAAAATTCCCCCCAATGA	0.396													8	326	---	---	---	---					
XIRP2	129446	broad.mit.edu	37	2	168099957	168099958	+	Frame_Shift_Ins	INS	-	-	G			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr2:168099957_168099958insG	ENST00000409195.1	+	9	2144_2145	c.2055_2056insG	c.(2053-2058)acggggfs	p.TG685fs	XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000295237.9_Frame_Shift_Ins_p.TG685fs|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409273.1_Frame_Shift_Ins_p.TG463fs	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	510					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AGGACATAACTGGGGGGGATGT	0.421													11	321	---	---	---	---					
MYO3B	140469	broad.mit.edu	37	2	171240258	171240259	+	Frame_Shift_Ins	INS	-	-	C			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr2:171240258_171240259insC	ENST00000334231.6	+	12	1251_1252	c.1251_1252insC	c.(1249-1254)aaccccfs	p.NP417fs	MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000408978.4_Frame_Shift_Ins_p.NP408fs|MYO3B_ENST00000409044.3_Frame_Shift_Ins_p.NP408fs			Q8WXR4	MYO3B_HUMAN	myosin IIIB	408	Myosin head-like.				response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						GCGCCTCCAATCCCCCCCACAT	0.465													7	385	---	---	---	---					
NEUROD1	4760	broad.mit.edu	37	2	182542971	182542972	+	Frame_Shift_Ins	INS	-	-	G			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr2:182542971_182542972insG	ENST00000295108.3	-	2	1073_1074	c.616_617insC	c.(616-618)cctfs	p.P206fs	NEUROD1_ENST00000496876.1_Intron|CERKL_ENST00000479558.1_Intron	NM_002500.4	NP_002491.2	Q13562	NDF1_HUMAN	neuronal differentiation 1	206					amacrine cell differentiation|cerebellum development|dentate gyrus development|embryonic organ morphogenesis|enteroendocrine cell differentiation|glucose homeostasis|inner ear development|insulin secretion|negative regulation of apoptosis|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of intestinal epithelial structure maintenance|response to glucose stimulus	cytoplasm|nucleus	chromatin binding|E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding			endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.088)			CGTCGGCAGGTGGGGGGGCATG	0.619													10	172	---	---	---	---					
INPP5D	3635	broad.mit.edu	37	2	234072358	234072359	+	Frame_Shift_Ins	INS	-	-	C			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr2:234072358_234072359insC	ENST00000359570.5	+	14	1210_1211	c.1210_1211insC	c.(1210-1212)cccfs	p.P404fs	INPP5D_ENST00000455936.2_Frame_Shift_Ins_p.P168fs|INPP5D_ENST00000450745.1_Frame_Shift_Ins_p.P168fs|INPP5D_ENST00000538935.1_Frame_Shift_Ins_p.P403fs			Q92835	SHIP1_HUMAN	inositol polyphosphate-5-phosphatase, 145kDa	416					apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway	cytosol	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding			central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		TGAAGGTAACGCCCCCCCTCCC	0.535													15	300	---	---	---	---					
FANCD2	2177	broad.mit.edu	37	3	10088407	10088410	+	Splice_Site	DEL	AGTA	AGTA	-	rs146316187		TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr3:10088407_10088410delAGTA	ENST00000287647.3	+	15	1371	c.1278_splice	c.e15+1	p.426_splice	FANCD2_ENST00000383807.1_Splice_Site_p.426_splice|FANCD2_ENST00000383806.1_Splice_Site_p.426_splice|FANCD2_ENST00000419585.1_Splice_Site_p.426_splice	NM_033084.3	NP_149075.2	Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	426					DNA repair|response to gamma radiation	nucleoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		TTCATTACTTAGTAAGTGTCAGAG	0.358			"""D, Mis, N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				8	41	---	---	---	---					
MUC13	56667	broad.mit.edu	37	3	124646628	124646629	+	Frame_Shift_Ins	INS	-	-	G			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr3:124646628_124646629insG	ENST00000311075.3	-	2	299_300	c.261_262insC	c.(259-264)cctaatfs	p.N88fs		NM_033049.3	NP_149038.3	Q9H3R2	MUC13_HUMAN	mucin 13, cell surface associated	88	Thr-rich.					extracellular region|integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)|stomach(1)	18						GTACTAATTATGGGGGGAGCAG	0.441													7	711	---	---	---	---					
ATP13A3	79572	broad.mit.edu	37	3	194169249	194169250	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr3:194169249_194169250delTC	ENST00000439040.1	-	12	1877_1878	c.1086_1087delGA	c.(1084-1089)ggcafs	p.GT362fs	ATP13A3_ENST00000256031.4_Frame_Shift_Del_p.GT362fs			Q9H7F0	AT133_HUMAN	ATPase type 13A3	362					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	24	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)		ATAACAGTTGTCCCACAAAACA	0.351													370	461	---	---	---	---					
LGI2	55203	broad.mit.edu	37	4	25005320	25005321	+	Frame_Shift_Ins	INS	-	-	C			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr4:25005320_25005321insC	ENST00000382114.4	-	8	1575_1576	c.1390_1391insG	c.(1390-1392)catfs	p.H464fs		NM_018176.3	NP_060646.2	Q8N0V4	LGI2_HUMAN	leucine-rich repeat LGI family, member 2	464						extracellular region				breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(2)	33		Breast(46;0.173)				CAGGGTCATGGCCCCCCGGGAT	0.515													7	212	---	---	---	---					
UNC5C	8633	broad.mit.edu	37	4	96140293	96140294	+	Frame_Shift_Ins	INS	-	-	G			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr4:96140293_96140294insG	ENST00000453304.1	-	9	1819_1820	c.1471_1472insC	c.(1471-1473)agafs	p.R491fs	UNC5C_ENST00000506749.1_Frame_Shift_Ins_p.R510fs	NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	491					apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		GAGGTCATCTTGGGGGGTGACA	0.505													7	376	---	---	---	---					
C4orf17	84103	broad.mit.edu	37	4	100443777	100443778	+	Frame_Shift_Ins	INS	-	-	C			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr4:100443777_100443778insC	ENST00000514652.1	+	3	602_603	c.248_249insC	c.(247-249)tccfs	p.S83fs	C4orf17_ENST00000326581.4_Frame_Shift_Ins_p.S83fs|C4orf17_ENST00000503257.1_3'UTR			Q53FE4	CD017_HUMAN	chromosome 4 open reading frame 17	83										central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|urinary_tract(3)	18				OV - Ovarian serous cystadenocarcinoma(123;2.08e-08)		AATTGCAGTTACCCCTCCAGCA	0.500													8	267	---	---	---	---					
C6	729	broad.mit.edu	37	5	41181559	41181560	+	Frame_Shift_Ins	INS	-	-	C			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr5:41181559_41181560insC	ENST00000263413.3	-	7	1092_1093	c.828_829insG	c.(826-831)gggctcfs	p.L277fs	C6_ENST00000337836.5_Frame_Shift_Ins_p.L277fs|C6_ENST00000475349.1_5'UTR	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	277	MACPF.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				CTGAAAGAGCTCCCCCCCTGAC	0.376													11	181	---	---	---	---					
MAP1B	4131	broad.mit.edu	37	5	71495076	71495077	+	Frame_Shift_Ins	INS	-	-	C			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr5:71495076_71495077insC	ENST00000296755.7	+	5	6192_6193	c.5894_5895insC	c.(5893-5895)accfs	p.T1965fs		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1965						microtubule|microtubule associated complex	structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		AAGACCACCAGCCCCCCCGAAG	0.485													9	241	---	---	---	---					
RASGRF2	5924	broad.mit.edu	37	5	80369227	80369228	+	Frame_Shift_Ins	INS	-	-	C			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr5:80369227_80369228insC	ENST00000265080.4	+	5	910_911	c.843_844insC	c.(841-846)aaccccfs	p.NP281fs	RASGRF2_ENST00000502677.1_3'UTR	NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 2	281	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	protein binding|Rho guanyl-nucleotide exchange factor activity			biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		GCTCCAAGAAGCCCCCCATCAG	0.490													13	68	---	---	---	---					
EXOC2	55770	broad.mit.edu	37	6	637793	637794	+	Frame_Shift_Ins	INS	-	-	G			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr6:637793_637794insG	ENST00000230449.4	-	2	160_161	c.25_26insC	c.(25-27)tgtfs	p.C9fs	EXOC2_ENST00000448181.3_Intron	NM_018303.4	NP_060773.3	Q96KP1	EXOC2_HUMAN	exocyst complex component 2	9	IPT/TIG.				exocytosis|protein transport			p.Q6fs*28(1)		breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|liver(1)|lung(16)|ovary(4)|pancreas(1)|prostate(2)	46	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)		OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14)		GCCGGTCACAAGGGGGGGTTGT	0.485													10	305	---	---	---	---					
PHACTR1	221692	broad.mit.edu	37	6	13206134	13206135	+	Frame_Shift_Ins	INS	-	-	G			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr6:13206134_13206135insG	ENST00000379350.1	+	7	881_882	c.752_753insG	c.(751-753)gggfs	p.G251fs	PHACTR1_ENST00000332995.7_Frame_Shift_Ins_p.G251fs|PHACTR1_ENST00000457702.2_Frame_Shift_Ins_p.G106fs|PHACTR1_ENST00000379345.2_Intron			Q9C0D0	PHAR1_HUMAN	phosphatase and actin regulator 1	251						cell junction|cytoplasm|synapse	actin binding|protein phosphatase inhibitor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)			TGTATGCCCGTGGGGGGGCCAG	0.599													7	204	---	---	---	---					
DCDC2	51473	broad.mit.edu	37	6	24205282	24205283	+	Frame_Shift_Ins	INS	-	-	C			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr6:24205282_24205283insC	ENST00000378454.3	-	8	1271_1272	c.970_971insG	c.(970-972)agcfs	p.S324fs	DCDC2_ENST00000378450.3_Frame_Shift_Ins_p.S77fs	NM_001195610.1|NM_016356.3	NP_001182539.1|NP_057440.2	Q9UHG0	DCDC2_HUMAN	doublecortin domain containing 2	324					cellular defense response|intracellular signal transduction|neuron migration					breast(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32		Ovarian(999;0.101)				GACTTCTGCTGCCCCCCGTGTT	0.411													14	1245	---	---	---	---					
OR5V1	81696	broad.mit.edu	37	6	29323407	29323407	+	Frame_Shift_Del	DEL	C	C	-			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr6:29323407delC	ENST00000377154.1	-	4	865	c.566delG	c.(565-567)ttfs	p.C189fs	OR5V1_ENST00000543825.1_Frame_Shift_Del_p.C189fs			Q9UGF6	OR5V1_HUMAN	olfactory receptor, family 5, subfamily V, member 1	189					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(3)|large_intestine(3)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						AGTGTTTCCACAAGACAAGAT	0.443													138	496	---	---	---	---					
C6orf25	80739	broad.mit.edu	37	6	31692528	31692529	+	Frame_Shift_Ins	INS	-	-	C			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr6:31692528_31692529insC	ENST00000375809.3	+	5	558_559	c.547_548insC	c.(547-549)cccfs	p.P183fs	C6orf25_ENST00000375805.2_Frame_Shift_Ins_p.CP152fs|C6orf25_ENST00000375810.4_Frame_Shift_Ins_p.P183fs|C6orf25_ENST00000480039.1_Intron	NM_025260.3|NM_138272.2|NM_138277.2	NP_079536.2|NP_612116.1|NP_612121.1	O95866	G6B_HUMAN	chromosome 6 open reading frame 25	0						endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	heparin binding|receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)	9						TTCAGCTCTGTCCCCCCCACAT	0.579													9	291	---	---	---	---					
RUNX2	860	broad.mit.edu	37	6	45514855	45514856	+	Frame_Shift_Ins	INS	-	-	G			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr6:45514855_45514856insG	ENST00000371438.1	+	8	1737_1738	c.1379_1380insG	c.(1378-1380)cggfs	p.R460fs	RUNX2_ENST00000352853.5_Frame_Shift_Ins_p.R528fs|RUNX2_ENST00000465038.2_Frame_Shift_Ins_p.R460fs|RUNX2_ENST00000371432.3_Frame_Shift_Ins_p.R424fs|RUNX2_ENST00000576263.1_Intron|RUNX2_ENST00000371436.6_Frame_Shift_Ins_p.R438fs|RUNX2_ENST00000541979.1_Frame_Shift_Ins_p.R506fs|RUNX2_ENST00000359524.5_Frame_Shift_Ins_p.R446fs	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	460	Interaction with MYST4.|Pro/Ser/Thr-rich.				negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	p.G462fs*22(1)|p.G530fs*22(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						CCCATGGTGCCGGGGGGAGACC	0.545													8	208	---	---	---	---					
HTR1E	3354	broad.mit.edu	37	6	87725846	87725847	+	Frame_Shift_Ins	INS	-	-	C			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr6:87725846_87725847insC	ENST00000305344.4	+	2	1497_1498	c.794_795insC	c.(793-795)accfs	p.T265fs	HTR1E_ENST00000369584.1_Frame_Shift_Ins_p.T265fs	NM_000865.2	NP_000856.1	P28566	5HT1E_HUMAN	5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled	265					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	protein binding|serotonin binding|serotonin receptor activity	p.F268fs*4(1)		breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)		BRCA - Breast invasive adenocarcinoma(108;0.055)	Eletriptan(DB00216)	TCCATCAGGATCCCCCCCTTCG	0.510													13	339	---	---	---	---					
VNN3	55350	broad.mit.edu	37	6	133048074	133048074	+	Frame_Shift_Del	DEL	C	C	-			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr6:133048074delC	ENST00000367927.5	-	4	687	c.615delG	c.(613-615)ggfs	p.G205fs	VNN3_ENST00000425515.2_3'UTR|VNN3_ENST00000414302.2_3'UTR|VNN3_ENST00000207771.3_Frame_Shift_Del_p.G205fs|VNN3_ENST00000427187.2_Intron|VNN3_ENST00000275223.3_Intron|VNN3_ENST00000417437.2_Intron|VNN3_ENST00000450865.2_Intron|VNN3_ENST00000519686.2_Intron|VNN3_ENST00000423615.2_Intron|VNN3_ENST00000509351.1_Intron|VNN3_ENST00000392393.3_Intron					vanin 3											cervix(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)|stomach(1)	8	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00242)|GBM - Glioblastoma multiforme(226;0.0168)		TGCCAAACTTCCCAAAGGGAG	0.398													17	29	---	---	---	---					
RP11-235G24.1	0	broad.mit.edu	37	6	161319545	161319545	+	RNA	DEL	A	A	-			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr6:161319545delA	ENST00000454826.1	-	0	207																											TTAAATAAAGAAAAACACTTA	0.368													25	36	---	---	---	---					
ABCB5	340273	broad.mit.edu	37	7	20685588	20685589	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr7:20685588_20685589delAC	ENST00000404938.2	+	9	1460_1461	c.808_809delAC	c.(808-810)afs	p.T270fs		NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	456	ABC transmembrane type-1.				regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						TGTAAGGTATACACAGAATCTC	0.347													35	100	---	---	---	---					
GRM3	2913	broad.mit.edu	37	7	86415681	86415682	+	Frame_Shift_Ins	INS	-	-	C			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr7:86415681_86415682insC	ENST00000361669.2	+	3	1672_1673	c.573_574insC	c.(571-576)gtccccfs	p.VP191fs	AC005009.2_ENST00000452471.1_RNA|GRM3_ENST00000536043.1_Frame_Shift_Ins_p.VP63fs|AC005009.2_ENST00000418031.1_RNA|GRM3_ENST00000439827.1_Frame_Shift_Ins_p.VP191fs|GRM3_ENST00000394720.2_Frame_Shift_Ins_p.VP189fs|GRM3_ENST00000546348.1_Intron	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	191					synaptic transmission	integral to plasma membrane				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	CCAGGACCGTGCCCCCCGACTT	0.564													7	211	---	---	---	---					
AP1S1	1174	broad.mit.edu	37	7	100802404	100802405	+	Frame_Shift_Ins	INS	-	-	G			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr7:100802404_100802405insG	ENST00000337619.5	+	4	474_475	c.356_357insG	c.(355-357)aggfs	p.R119fs		NM_001283.3	NP_001274.1	P61966	AP1S1_HUMAN	adaptor-related protein complex 1, sigma 1 subunit	119					intracellular protein transport|post-Golgi vesicle-mediated transport|receptor-mediated endocytosis|regulation of defense response to virus by virus|response to virus|viral reproduction	AP-1 adaptor complex|coated pit|cytosol|lysosomal membrane	protein binding|protein transporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)	8	Lung NSC(181;0.168)|all_lung(186;0.215)					GAGTTTTTGATGGGGGGGGATG	0.564													7	48	---	---	---	---					
CPED1	79974	broad.mit.edu	37	7	120911387	120911388	+	Frame_Shift_Ins	INS	-	-	A	rs141494536	byFrequency	TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr7:120911387_120911388insA	ENST00000310396.5	+	22	3238_3239	c.2771_2772insA	c.(2770-2772)gaafs	p.E924fs		NM_024913.4	NP_079189.4			cadherin-like and PC-esterase domain containing 1																		CTGGATACTGCAAAAAAACATG	0.351													8	258	---	---	---	---					
TNPO3	23534	broad.mit.edu	37	7	128610258	128610259	+	Frame_Shift_Ins	INS	-	-	G			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr7:128610258_128610259insG	ENST00000393245.1	-	20	3016_3017	c.2643_2644insC	c.(2641-2646)ccatacfs	p.Y882fs	TNPO3_ENST00000471166.1_Frame_Shift_Ins_p.Y882fs|TNPO3_ENST00000265388.5_Frame_Shift_Ins_p.Y848fs|TNPO3_ENST00000482320.1_Frame_Shift_Ins_p.Y782fs|TNPO3_ENST00000471234.1_Frame_Shift_Ins_p.Y784fs	NM_012470.3	NP_036602.1	Q9Y5L0	TNPO3_HUMAN	transportin 3	848					splicing factor protein import into nucleus	cytoplasm|nucleus	protein binding|receptor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(3)	22						GGTAGGGTATAGGGGGGGAGGC	0.485													15	423	---	---	---	---					
EXOC4	60412	broad.mit.edu	37	7	133682284	133682285	+	Frame_Shift_Ins	INS	-	-	C	rs34608222	byFrequency	TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr7:133682284_133682285insC	ENST00000253861.4	+	15	2275_2276	c.2246_2247insC	c.(2245-2247)cccfs	p.P749fs	EXOC4_ENST00000541309.1_Frame_Shift_Ins_p.P37fs|EXOC4_ENST00000539845.1_Frame_Shift_Ins_p.P648fs|EXOC4_ENST00000545148.1_Frame_Shift_Ins_p.P359fs	NM_021807.3	NP_068579.3	Q96A65	EXOC4_HUMAN	exocyst complex component 4	749					vesicle docking involved in exocytosis	exocyst	protein N-terminus binding			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	50		Esophageal squamous(399;0.129)				AACACGGATCTCCCCCCAGTGT	0.460													8	355	---	---	---	---					
TRPV5	56302	broad.mit.edu	37	7	142612493	142612494	+	Frame_Shift_Ins	INS	-	-	C			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr7:142612493_142612494insC	ENST00000265310.1	-	10	1617_1618	c.1269_1270insG	c.(1267-1272)ggcattfs	p.I424fs		NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5	424					protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					ACATGGAATGGCCCCCCAAGAA	0.505													8	420	---	---	---	---					
KCNB2	9312	broad.mit.edu	37	8	73480396	73480397	+	Frame_Shift_Ins	INS	-	-	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr8:73480396_73480397insA	ENST00000523207.1	+	2	1015_1016	c.427_428insA	c.(427-429)aaafs	p.K143fs		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	143					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding	p.Q143K(1)|p.E146fs*3(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			CAGATATCATCAAAAAAAAGAA	0.446													7	612	---	---	---	---					
PABPC1	26986	broad.mit.edu	37	8	101721933	101721933	+	Frame_Shift_Del	DEL	T	T	-	rs112966887		TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr8:101721933delT	ENST00000318607.5	-	8	2127	c.999delA	c.(997-999)aafs	p.K333fs	PABPC1_ENST00000519596.1_5'UTR|PABPC1_ENST00000519004.1_Frame_Shift_Del_p.K288fs|PABPC1_ENST00000522387.1_Frame_Shift_Del_p.K301fs	NM_002568.3	NP_002559.2	P11940	PABP1_HUMAN	poly(A) binding protein, cytoplasmic 1	333	RRM 4.				mRNA polyadenylation|mRNA stabilization|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|translation	catalytic step 2 spliceosome|cytosol	nucleotide binding|poly(A) RNA binding|protein C-terminus binding|translation activator activity			breast(2)|endometrium(4)|kidney(15)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	40	all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206)			AACCAAACCCTTTGCTGCGAC	0.383													13	106	---	---	---	---					
ABCA1	19	broad.mit.edu	37	9	107593322	107593323	+	Frame_Shift_Ins	INS	-	-	C			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr9:107593322_107593323insC	ENST00000374736.3	-	14	2169_2170	c.1775_1776insG	c.(1774-1776)gttfs	p.V592fs		NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	592					Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	AGTAGGCGAAGCCCCCCCAGAC	0.540													10	226	---	---	---	---					
NUP214	8021	broad.mit.edu	37	9	134073007	134073008	+	Frame_Shift_Ins	INS	-	-	C			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr9:134073007_134073008insC	ENST00000359428.5	+	29	4270_4271	c.4126_4127insC	c.(4126-4128)cccfs	p.P1376fs	NUP214_ENST00000451030.1_Frame_Shift_Ins_p.P1377fs|NUP214_ENST00000411637.2_Frame_Shift_Ins_p.P1366fs|NUP214_ENST00000465486.2_3'UTR|NUP214_ENST00000483497.2_Frame_Shift_Ins_p.P202fs			P35658	NU214_HUMAN	nucleoporin 214kDa	1376	11 X 5 AA approximate repeats.|Pro/Ser/Thr-rich.				carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding			NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		TAATTTTACTGCCCCCCCGGTG	0.545			T	"""DEK, SET, ABL1"""	"""AML, T-ALL"""								10	127	---	---	---	---					
PRRC2B	84726	broad.mit.edu	37	9	134349850	134349851	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr9:134349850_134349851delCT	ENST00000357304.4	+	15	2389_2390	c.2334_2335delCT	c.(2332-2337)agctfs	p.SS778fs	PRRC2B_ENST00000458550.1_Intron|PRRC2B_ENST00000372249.1_5'UTR|PRRC2B_ENST00000405995.1_Intron	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN	proline-rich coiled-coil 2B	778							protein binding			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						GGAATGAAAGCTCTTTCTCTGC	0.475													21	87	---	---	---	---					
ZEB1	6935	broad.mit.edu	37	10	31809832	31809833	+	Frame_Shift_Ins	INS	-	-	G			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr10:31809832_31809833insG	ENST00000446923.2	+	7	1912_1913	c.1521_1522insG	c.(1519-1524)gaggggfs	p.EG507fs	ZEB1_ENST00000560721.2_Frame_Shift_Ins_p.EG503fs|ZEB1_ENST00000320985.10_Frame_Shift_Ins_p.EG523fs|ZEB1_ENST00000542815.3_Frame_Shift_Ins_p.EG456fs|ZEB1_ENST00000559858.1_3'UTR|ZEB1_ENST00000361642.5_Frame_Shift_Ins_p.EG524fs	NM_001128128.2|NM_001174094.1	NP_001121600.1|NP_001167565.1	P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	523					cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				AAAGCTTTGAAGGGGGGGTGAA	0.371													11	253	---	---	---	---					
PARD3	56288	broad.mit.edu	37	10	34666941	34666942	+	Frame_Shift_Ins	INS	-	-	C			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr10:34666941_34666942insC	ENST00000374789.3	-	10	1817_1818	c.1492_1493insG	c.(1492-1494)ggcfs	p.G498fs	PARD3_ENST00000545260.1_Frame_Shift_Ins_p.G454fs|PARD3_ENST00000374794.3_Frame_Shift_Ins_p.G454fs|PARD3_ENST00000374790.3_Frame_Shift_Ins_p.G454fs|PARD3_ENST00000346874.4_Frame_Shift_Ins_p.G498fs|PARD3_ENST00000374776.1_Frame_Shift_Ins_p.G498fs|PARD3_ENST00000544292.1_Frame_Shift_Ins_p.G228fs|PARD3_ENST00000350537.4_Frame_Shift_Ins_p.G498fs|PARD3_ENST00000545693.1_Frame_Shift_Ins_p.G498fs|PARD3_ENST00000374788.3_Frame_Shift_Ins_p.G498fs|PARD3_ENST00000374773.1_Frame_Shift_Ins_p.G498fs|PARD3_ENST00000340077.5_Frame_Shift_Ins_p.G498fs	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator	498	PDZ 2.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly	cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				CTGAATGGCCGCCCCCCGGGGG	0.480													7	154	---	---	---	---					
AGAP7	653268	broad.mit.edu	37	10	51465345	51465346	+	Frame_Shift_Ins	INS	-	-	G			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr10:51465345_51465346insG	ENST00000374095.5	-	7	1235_1236	c.1110_1111insC	c.(1108-1113)ccctccfs	p.S371fs		NM_001077685.1	NP_001071153.1	Q5VUJ5	AGAP7_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 7	371	PH.				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	11						GCATGAGGAGAGGGGGGCGGGT	0.530													15	74	---	---	---	---					
HECTD2	143279	broad.mit.edu	37	10	93272060	93272061	+	Frame_Shift_Ins	INS	-	-	C			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr10:93272060_93272061insC	ENST00000446394.1	+	22	2362_2363	c.2262_2263insC	c.(2260-2265)ctccccfs	p.LP754fs	HECTD2_ENST00000536715.1_Frame_Shift_Ins_p.LP339fs|HECTD2_ENST00000371667.1_Frame_Shift_Ins_p.LP400fs|HECTD2_ENST00000298068.5_Frame_Shift_Ins_p.LP750fs			Q5U5R9	HECD2_HUMAN	HECT domain containing E3 ubiquitin protein ligase 2	750	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity			breast(2)|endometrium(2)|kidney(4)|large_intestine(10)|lung(7)|skin(1)|urinary_tract(1)	27						AACTTTGCCTTCCCCCCTACAA	0.356													8	451	---	---	---	---					
TLL2	7093	broad.mit.edu	37	10	98164994	98164995	+	Frame_Shift_Ins	INS	-	-	G			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr10:98164994_98164995insG	ENST00000357947.3	-	10	1486_1487	c.1261_1262insC	c.(1261-1263)tttfs	p.F421fs	TLL2_ENST00000469598.1_5'UTR	NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN	tolloid-like 2	421	CUB 1.				cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		CTTACCCAAAAGGGGGGCTTTT	0.480													7	494	---	---	---	---					
BTRC	8945	broad.mit.edu	37	10	103310572	103310573	+	Frame_Shift_Ins	INS	-	-	C			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr10:103310572_103310573insC	ENST00000370187.3	+	14	1891_1892	c.1773_1774insC	c.(1771-1776)gaccccfs	p.DP591fs	BTRC_ENST00000393441.4_Frame_Shift_Ins_p.DP550fs|BTRC_ENST00000493877.1_3'UTR|BTRC_ENST00000408038.2_Frame_Shift_Ins_p.DP555fs	NM_033637.3	NP_378663.1	Q9Y297	FBW1A_HUMAN	beta-transducin repeat containing E3 ubiquitin protein ligase	591					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|positive regulation of proteolysis|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|viral reproduction|Wnt receptor signaling pathway	cytosol|nucleus|SCF ubiquitin ligase complex				endometrium(4)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	27		Colorectal(252;0.234)		Epithelial(162;1.05e-08)|all cancers(201;6.59e-07)		CCCAAGCTGAACCCCCCCGTTC	0.431													9	352	---	---	---	---					
TRUB1	142940	broad.mit.edu	37	10	116730191	116730192	+	Frame_Shift_Ins	INS	-	-	C			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr10:116730191_116730192insC	ENST00000298746.3	+	5	649_650	c.588_589insC	c.(586-591)gtccccfs	p.VP196fs		NM_139169.4	NP_631908.1	Q8WWH5	TRUB1_HUMAN	TruB pseudouridine (psi) synthase family member 1	196					pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding			breast(2)|kidney(2)|large_intestine(1)|lung(5)|urinary_tract(2)	12		Colorectal(252;0.09)|Breast(234;0.174)|Lung NSC(174;0.245)		Epithelial(162;0.00879)|all cancers(201;0.0243)		TAATGCAAGTGCCCCCCCTGTA	0.317													12	183	---	---	---	---					
LINC00959	387723	broad.mit.edu	37	10	131905959	131905960	+	RNA	INS	-	-	G			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr10:131905959_131905960insG	ENST00000456581.1	-	0	114																											CTTTGCCTCCAGGGGGGGAAGG	0.530													12	173	---	---	---	---					
DCHS1	8642	broad.mit.edu	37	11	6662141	6662142	+	Frame_Shift_Ins	INS	-	-	G	rs143767864	byFrequency	TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr11:6662141_6662142insG	ENST00000299441.3	-	2	1114_1115	c.703_704insC	c.(703-705)gagfs	p.E235fs		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	235	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.R235Q(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTGGGCCCTCCGGGGGGGTGAA	0.589													8	86	---	---	---	---					
DDB1	1642	broad.mit.edu	37	11	61093159	61093160	+	Frame_Shift_Ins	INS	-	-	C			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr11:61093159_61093160insC	ENST00000301764.7	-	6	1082_1083	c.685_686insG	c.(685-687)catfs	p.H229fs	DDB1_ENST00000545930.1_5'UTR|DDB1_ENST00000450997.2_Intron	NM_001923.4	NP_001914.3	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1, 127kDa	229	Interaction with CDT1.				cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm	damaged DNA binding|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						AATGATGATGGCCCCCCCAAAG	0.490								Nucleotide excision repair (NER)					7	81	---	---	---	---					
CPSF7	79869	broad.mit.edu	37	11	61183884	61183885	+	Frame_Shift_Ins	INS	-	-	G			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr11:61183884_61183885insG	ENST00000340437.4	-	6	866_867	c.786_787insC	c.(784-789)ccgtgtfs	p.C263fs	CPSF7_ENST00000439958.3_Frame_Shift_Ins_p.C211fs|CPSF7_ENST00000394888.4_Frame_Shift_Ins_p.C220fs|CPSF7_ENST00000448745.1_Frame_Shift_Ins_p.C211fs	NM_024811.3	NP_079087.3	Q8N684	CPSF7_HUMAN	cleavage and polyadenylation specific factor 7, 59kDa	220	Pro-rich.				mRNA 3'-end processing|nuclear mRNA splicing, via spliceosome|protein tetramerization|termination of RNA polymerase II transcription	mRNA cleavage factor complex	nucleotide binding|protein binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	22						GGCAGCACACTGGGGGGCTTAT	0.594													10	532	---	---	---	---					
MYO7A	4647	broad.mit.edu	37	11	76873960	76873961	+	Frame_Shift_Ins	INS	-	-	C			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr11:76873960_76873961insC	ENST00000409709.3	+	14	1888_1889	c.1616_1617insC	c.(1615-1617)accfs	p.T539fs	MYO7A_ENST00000409893.1_Frame_Shift_Ins_p.T539fs|MYO7A_ENST00000409619.2_Frame_Shift_Ins_p.T528fs|MYO7A_ENST00000458637.2_Frame_Shift_Ins_p.T539fs	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	539	Myosin head-like.				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity	p.K542fs*80(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						GCCAACTACATCCCCCCCAAGA	0.564													7	305	---	---	---	---					
NCAM1	4684	broad.mit.edu	37	11	113076860	113076861	+	Frame_Shift_Ins	INS	-	-	G			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr11:113076860_113076861insG	ENST00000316851.7	+	4	556_557	c.556_557insG	c.(556-558)gggfs	p.G186fs	NCAM1_ENST00000533760.1_Frame_Shift_Ins_p.G78fs|NCAM1_ENST00000397957.4_3'UTR|NCAM1_ENST00000401611.2_Frame_Shift_Ins_p.G195fs	NM_001242607.1|NM_181351.4	NP_001229536.1|NP_851996.2	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1	196	Ig-like C2-type 2.				axon guidance|interferon-gamma-mediated signaling pathway	anchored to membrane|extracellular region|Golgi membrane|integral to membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		AATCCTGGCACGGGGGGAGATC	0.495													11	751	---	---	---	---					
DDX6	1656	broad.mit.edu	37	11	118629613	118629614	+	Splice_Site	INS	-	-	G			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr11:118629613_118629614insG	ENST00000264018.4	-	9	1170		c.e9-2		DDX6_ENST00000526070.2_Splice_Site|DDX6_ENST00000534980.1_Splice_Site	NM_004397.4	NP_004388.2	P26196	DDX6_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 6						exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|RNA-induced silencing complex|stress granule	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding|RNA helicase activity			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)	13	all_hematologic(175;0.0839)	Renal(330;0.0183)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)|Hepatocellular(160;0.0893)|Breast(348;0.0979)|all_hematologic(192;0.103)		OV - Ovarian serous cystadenocarcinoma(223;3.39e-06)|BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Colorectal(284;0.0377)		ATGGGAATTCTGGGGGGGGAGC	0.426			T	IGH@	B-NHL								9	134	---	---	---	---					
NCAPD3	23310	broad.mit.edu	37	11	134048585	134048586	+	Frame_Shift_Ins	INS	-	-	G	rs138442478		TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr11:134048585_134048586insG	ENST00000534548.2	-	22	2789_2790	c.2725_2726insC	c.(2725-2727)ggtfs	p.G909fs		NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	909					cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding	p.Q909fs*12(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		ACCTCTGACCTGGGGGGGTGGC	0.525													8	170	---	---	---	---					
C1S	716	broad.mit.edu	37	12	7171652	7171653	+	Frame_Shift_Ins	INS	-	-	C			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr12:7171652_7171653insC	ENST00000406697.1	+	8	1101_1102	c.473_474insC	c.(472-474)tccfs	p.S158fs	C1S_ENST00000328916.3_Frame_Shift_Ins_p.S158fs|C1S_ENST00000360817.5_Frame_Shift_Ins_p.S158fs|C1S_ENST00000402681.3_5'UTR			P09871	C1S_HUMAN	complement component 1, s subcomponent	158	EGF-like; calcium-binding.				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33					Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	TTCTGCTCCTGCCCCCCGGAAT	0.455													12	420	---	---	---	---					
HEBP1	50865	broad.mit.edu	37	12	13142224	13142225	+	Frame_Shift_Ins	INS	-	-	C			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr12:13142224_13142225insC	ENST00000536942.1	-	2	353_354	c.203_204insG	c.(202-204)gacfs	p.D68fs	HEBP1_ENST00000014930.4_Frame_Shift_Ins_p.D68fs			Q9NRV9	HEBP1_HUMAN	heme binding protein 1	68					circadian rhythm	extracellular region				breast(1)|endometrium(1)|large_intestine(3)|lung(1)|urinary_tract(1)	7		Prostate(47;0.183)		BRCA - Breast invasive adenocarcinoma(232;0.153)		TGTCATTGGTGCCCCCCGCATA	0.554													10	957	---	---	---	---					
GRIN2B	2904	broad.mit.edu	37	12	14019043	14019044	+	Frame_Shift_Ins	INS	-	-	G	rs77738206		TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr12:14019043_14019044insG	ENST00000279593.3	-	2	308_309	c.99_100insC	c.(97-102)ccgcatfs	p.H34fs		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	34					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	ATGCCAATGCTGGGGGGGCTCT	0.589													9	162	---	---	---	---					
H3F3C	440093	broad.mit.edu	37	12	31945092	31945093	+	Frame_Shift_Ins	INS	-	-	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr12:31945092_31945093insA	ENST00000340398.3	-	1	82_83	c.8_9insT	c.(7-9)cacfs	p.H3fs		NM_001013699.2	NP_001013721.2	Q6NXT2	H3C_HUMAN	H3 histone, family 3C	3					nucleosome assembly	nucleosome|nucleus	DNA binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	18						TCTGCTTGGTTCGGGCCATTTT	0.609										HNSCC(67;0.2)			19	40	---	---	---	---					
PDE1B	5153	broad.mit.edu	37	12	54971059	54971060	+	Frame_Shift_Ins	INS	-	-	C			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr12:54971059_54971060insC	ENST00000243052.3	+	15	1994_1995	c.1558_1559insC	c.(1558-1560)cccfs	p.P520fs	PDE1B_ENST00000538346.1_Frame_Shift_Ins_p.P479fs|PDE1B_ENST00000394277.3_3'UTR|PDE1B_ENST00000550620.1_Frame_Shift_Ins_p.P500fs|PPP1R1A_ENST00000547431.1_3'UTR	NM_000924.3	NP_000915.1	Q01064	PDE1B_HUMAN	phosphodiesterase 1B, calmodulin-dependent	520					activation of phospholipase C activity|apoptosis|nerve growth factor receptor signaling pathway|platelet activation	cytosol|nucleus	3',5'-cyclic-AMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			endometrium(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(4)	31						TGAAGAAGAGGCCCCCCCATCC	0.559													10	338	---	---	---	---					
GLI1	2735	broad.mit.edu	37	12	57860074	57860075	+	Frame_Shift_Ins	INS	-	-	G			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr12:57860074_57860075insG	ENST00000228682.2	+	8	905_906	c.814_815insG	c.(814-816)gggfs	p.G272fs	GLI1_ENST00000546141.1_Frame_Shift_Ins_p.G231fs|GLI1_ENST00000543426.1_Frame_Shift_Ins_p.G144fs	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GLI family zinc finger 1	272					epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			CGTGTGCCACTGGGGGGGCTGC	0.599													17	505	---	---	---	---					
B4GALNT1	2583	broad.mit.edu	37	12	58025102	58025103	+	Frame_Shift_Ins	INS	-	-	C			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr12:58025102_58025103insC	ENST00000341156.4	-	3	847_848	c.263_264insG	c.(262-264)gctfs	p.A88fs	B4GALNT1_ENST00000550943.1_Intron|B4GALNT1_ENST00000449184.3_Frame_Shift_Ins_p.A88fs|B4GALNT1_ENST00000552350.1_Frame_Shift_Ins_p.A88fs|B4GALNT1_ENST00000418555.2_Intron|B4GALNT1_ENST00000550764.1_Frame_Shift_Ins_p.A88fs	NM_001478.3	NP_001469.1	Q00973	B4GN1_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 1	88					lipid glycosylation	integral to Golgi membrane|membrane fraction	(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity	p.G88fs*24(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|urinary_tract(1)	20	Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)			GGAGGGGGAGGCCCCCCCCACT	0.589													9	96	---	---	---	---					
TMTC3	160418	broad.mit.edu	37	12	88553910	88553910	+	Frame_Shift_Del	DEL	G	G	-			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr12:88553910delG	ENST00000266712.6	+	5	748	c.528delG	c.(526-528)ttfs	p.L176fs		NM_181783.3	NP_861448.2	Q6ZXV5	TMTC3_HUMAN	transmembrane and tetratricopeptide repeat containing 3	176						integral to membrane	binding			NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|liver(1)|lung(12)|prostate(4)|skin(1)	31						CAATTGCCTTGACAGTGTTTT	0.308													155	321	---	---	---	---					
HECTD4	283450	broad.mit.edu	37	12	112600859	112600860	+	Frame_Shift_Ins	INS	-	-	G			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr12:112600859_112600860insG	ENST00000550722.1	-	75	13063_13064	c.12668_12669insC	c.(12667-12669)cgafs	p.R4223fs	HECTD4_ENST00000377560.5_Frame_Shift_Ins_p.R4197fs|HECTD4_ENST00000430131.2_Frame_Shift_Ins_p.R3947fs	NM_001109662.3	NP_001103132.3			HECT domain containing E3 ubiquitin protein ligase 4																		CTGTGCCATCTGGGGGGGCGAT	0.629													7	170	---	---	---	---					
MSI1	4440	broad.mit.edu	37	12	120800902	120800903	+	Frame_Shift_Ins	INS	-	-	C			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr12:120800902_120800903insC	ENST00000257552.2	-	6	433_434	c.345_346insG	c.(343-348)ggtgtcfs	p.V116fs		NM_002442.3	NP_002433.1	O43347	MSI1H_HUMAN	musashi RNA-binding protein 1	116	RRM 2.				nervous system development	cytoplasm|nucleus	nucleotide binding			breast(4)|central_nervous_system(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(5)|skin(2)	19	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TTCACCGACAGCCCCCCCACAA	0.564													7	151	---	---	---	---					
PGAM5	192111	broad.mit.edu	37	12	133294121	133294121	+	Frame_Shift_Del	DEL	C	C	-			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr12:133294121delC	ENST00000498926.2	+	3	525	c.467delC	c.(466-468)acfs	p.T157fs	PGAM5_ENST00000543955.1_Frame_Shift_Del_p.T8fs|PXMP2_ENST00000545677.1_3'UTR|PGAM5_ENST00000317555.2_Frame_Shift_Del_p.T157fs|PGAM5_ENST00000454808.2_Frame_Shift_Del_p.T8fs	NM_001170543.1|NM_001170544.1	NP_001164014.1|NP_001164015.1	Q96HS1	PGAM5_HUMAN	phosphoglycerate mutase family member 5	157						integral to membrane|mitochondrial outer membrane	phosphoprotein phosphatase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	5	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.89e-08)|Epithelial(86;1.14e-07)|all cancers(50;3.57e-06)		GCCATAGAGACCACCGATATC	0.632													2	4	---	---	---	---					
KBTBD6	89890	broad.mit.edu	37	13	41705321	41705322	+	Frame_Shift_Ins	INS	-	-	C	rs147771080		TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr13:41705321_41705322insC	ENST00000379485.1	-	1	1560_1561	c.1326_1327insG	c.(1324-1329)gggagafs	p.R443fs	KBTBD6_ENST00000499385.2_Frame_Shift_Ins_p.R377fs	NM_152903.4	NP_690867.3	Q86V97	KBTB6_HUMAN	kelch repeat and BTB (POZ) domain containing 6	443							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)		ATAGGGTCTCGCCCCCCCAAAA	0.470													8	233	---	---	---	---					
TEP1	7011	broad.mit.edu	37	14	20852646	20852647	+	Frame_Shift_Ins	INS	-	-	C	rs144584331		TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr14:20852646_20852647insC	ENST00000262715.5	-	23	3282_3283	c.3242_3243insG	c.(3241-3243)ggtfs	p.G1081fs	TEP1_ENST00000556935.1_Frame_Shift_Ins_p.G973fs	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	1081					telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding	p.V1082fs*47(1)		NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		CAGCTGCCACACCCCCCCACTC	0.584													14	244	---	---	---	---					
ARHGEF40	55701	broad.mit.edu	37	14	21546603	21546604	+	Frame_Shift_Ins	INS	-	-	G			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr14:21546603_21546604insG	ENST00000298694.4	+	10	2329_2330	c.2202_2203insG	c.(2200-2205)gaggggfs	p.EG734fs	ARHGEF40_ENST00000298693.3_Frame_Shift_Ins_p.EG734fs			Q8TER5	ARH40_HUMAN	Rho guanine nucleotide exchange factor (GEF) 40	734					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			large_intestine(4)|ovary(3)|upper_aerodigestive_tract(2)	9						TGCAGAGGGATGGGGGGGCCAT	0.629													13	259	---	---	---	---					
SALL2	6297	broad.mit.edu	37	14	21992275	21992276	+	Frame_Shift_Ins	INS	-	-	G			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr14:21992275_21992276insG	ENST00000327430.3	-	2	1880_1881	c.1586_1587insC	c.(1585-1587)cggfs	p.R529fs	SALL2_ENST00000538754.1_Intron|SALL2_ENST00000450879.2_Frame_Shift_Ins_p.R392fs|SALL2_ENST00000317492.5_Intron	NM_005407.1	NP_005398.1	Q9Y467	SALL2_HUMAN	spalt-like transcription factor 2	529							DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(6)|urinary_tract(2)	43	all_cancers(95;0.000662)			GBM - Glioblastoma multiforme(265;0.0151)		CCTCACTCCCTGGGGGGGTGTT	0.530													14	257	---	---	---	---					
AKAP6	9472	broad.mit.edu	37	14	32902724	32902725	+	Frame_Shift_Ins	INS	-	-	C			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr14:32902724_32902725insC	ENST00000280979.4	+	2	195_196	c.25_26insC	c.(25-27)cccfs	p.P9fs	AKAP6_ENST00000557272.1_Frame_Shift_Ins_p.P9fs|AKAP6_ENST00000557354.1_Frame_Shift_Ins_p.P9fs|AKAP6_ENST00000554449.1_3'UTR	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	9					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)		CGTGACACTTTCCCCCCTGAGG	0.505													8	970	---	---	---	---					
KCNH5	27133	broad.mit.edu	37	14	63174302	63174303	+	Frame_Shift_Ins	INS	-	-	G	rs35940222		TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr14:63174302_63174303insG	ENST00000322893.7	-	11	3158_3159	c.2890_2891insC	c.(2890-2892)gatfs	p.D964fs	KCNH5_ENST00000420622.2_3'UTR	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	964					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		ACATGGTATCTGGGGGGGTACT	0.391													10	209	---	---	---	---					
YLPM1	56252	broad.mit.edu	37	14	75248518	75248519	+	Frame_Shift_Ins	INS	-	-	C			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr14:75248518_75248519insC	ENST00000325680.7	+	4	1896_1897	c.1772_1773insC	c.(1771-1773)cccfs	p.P591fs	YLPM1_ENST00000552421.1_Frame_Shift_Ins_p.P591fs|YLPM1_ENST00000238571.3_Intron	NM_019589.2	NP_062535.2	P49750	YLPM1_HUMAN	YLP motif containing 1	392					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck				breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		CCACCAGTTCTCCCCCCACCTT	0.599													8	341	---	---	---	---					
MAPKBP1	23005	broad.mit.edu	37	15	42092080	42092080	+	Frame_Shift_Del	DEL	C	C	-			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr15:42092080delC	ENST00000457542.2	+	3	460	c.174delC	c.(172-174)gafs	p.D58fs	MAPKBP1_ENST00000507762.1_3'UTR|MAPKBP1_ENST00000514566.1_Frame_Shift_Del_p.D58fs|MAPKBP1_ENST00000456763.2_Frame_Shift_Del_p.D58fs|MAPKBP1_ENST00000260357.7_Intron|MAPKBP1_ENST00000221214.6_Frame_Shift_Del_p.D58fs	NM_014994.2	NP_055809.2	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein 1	58										breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		TTGCCTGTGACCCCCGATCAG	0.502													80	227	---	---	---	---					
PRTG	283659	broad.mit.edu	37	15	55912218	55912219	+	Frame_Shift_Ins	INS	-	-	G			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr15:55912218_55912219insG	ENST00000389286.4	-	20	3491_3492	c.3444_3445insC	c.(3442-3447)ccacctfs	p.P1149fs		NM_173814.4	NP_776175.2	Q2VWP7	PRTG_HUMAN	protogenin	1149					multicellular organismal development	integral to membrane				breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41				all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)		AATCAGAGGTTGGGGGGTGTGG	0.490													7	246	---	---	---	---					
UACA	55075	broad.mit.edu	37	15	70991941	70991942	+	Frame_Shift_Ins	INS	-	-	C	rs139520381		TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr15:70991941_70991942insC	ENST00000322954.6	-	2	321_322	c.136_137insG	c.(136-138)tgtfs	p.C46fs	UACA_ENST00000560441.1_Frame_Shift_Ins_p.C33fs|UACA_ENST00000379983.2_Frame_Shift_Ins_p.C33fs|UACA_ENST00000539319.1_Frame_Shift_Ins_p.C46fs	NM_018003.2	NP_060473.2	Q9BZF9	UACA_HUMAN	uveal autoantigen with coiled-coil domains and ankyrin repeats	46						cytoskeleton|extracellular region				breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						TTTTTCTACATCCCCCCTTTCT	0.371													7	902	---	---	---	---					
GRIN2A	2903	broad.mit.edu	37	16	10273964	10273964	+	Frame_Shift_Del	DEL	T	T	-			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr16:10273964delT	ENST00000396573.2	-	3	614	c.305delA	c.(304-306)gcfs	p.D103fs	GRIN2A_ENST00000396575.2_Frame_Shift_Del_p.D103fs|GRIN2A_ENST00000330684.3_Frame_Shift_Del_p.D103fs|GRIN2A_ENST00000562109.1_Frame_Shift_Del_p.D103fs|GRIN2A_ENST00000404927.2_Frame_Shift_Del_p.D103fs	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	103					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GTCCGTGTCGTCCCCAAACAC	0.602													31	142	---	---	---	---					
TP53	7157	broad.mit.edu	37	17	7578463	7578502	+	Frame_Shift_Del	DEL	CGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCA	CGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCA	-	rs137852790		TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr17:7578463_7578502delCGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCA	ENST00000420246.2	-	5	560_599	c.428_467delTGCAGCTGTGGGTTGATTCCACACCCCCGCCCGGCACCCG	c.(427-468)gcfs	p.VQLWVDSTPPPGTR143fs	TP53_ENST00000455263.2_Frame_Shift_Del_p.VQLWVDSTPPPGTR143fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.VQLWVDSTPPPGTR143fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.VQLWVDSTPPPGTR143fs|TP53_ENST00000269305.4_Frame_Shift_Del_p.VQLWVDSTPPPGTR143fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.VQLWVDSTPPPGTR143fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	143	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		V -> A (in sporadic cancers; somatic mutation; strong DNA binding ability at 32.5 degrees Celsius; strong reduction of transcriptional activity at 37.5 degrees Celsius).|V -> E (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).|V -> M (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.W146*(72)|p.P151S(68)|p.P152L(66)|p.G154V(46)|p.Q144*(36)|p.P151H(31)|p.R156P(24)|p.T155N(22)|p.P152S(22)|p.V143A(18)|p.P152fs*18(18)|p.L145Q(17)|p.L145P(17)|p.T155P(17)|p.P151T(16)|p.T155I(14)|p.P151A(13)|p.G154G(12)|p.P151P(12)|p.R156fs*14(11)|p.P153fs*28(11)|p.R156H(10)|p.T155A(10)|p.G154S(9)|p.P151R(9)|p.L145L(8)|p.P152R(8)|p.0?(8)|p.Q144L(8)|p.P153S(8)|p.L145R(7)|p.P151fs*30(7)|p.P152T(7)|p.P151L(7)|p.P153P(7)|p.G154D(6)|p.T150fs*16(6)|p.V147G(6)|p.S149S(6)|p.S149F(6)|p.V147I(6)|p.P153L(6)|p.V147D(5)|p.P152fs*29(5)|p.V143E(5)|p.V147fs*23(5)|p.W146R(5)|p.T155T(5)|p.S149fs*32(5)|p.P152P(5)|p.P152fs*14(5)|p.?(5)|p.G154C(4)|p.P152Q(4)|p.T150I(4)|p.Q144H(4)|p.D148E(4)|p.Q144R(4)|p.Q144P(4)|p.D148N(4)|p.S149P(4)|p.W146S(4)|p.W14*(3)|p.P152fs*28(3)|p.G61V(3)|p.R156S(3)|p.R156fs*25(3)|p.R156G(3)|p.R156L(3)|p.Q144fs*25(3)|p.Q144fs*26(3)|p.G154I(3)|p.W53*(3)|p.T155_R156insDSTPPPGT(3)|p.S149fs*21(3)|p.G22V(3)|p.P153T(3)|p.G154fs*27(3)|p.V147V(3)|p.Q12*(2)|p.D148fs*33(2)|p.S149T(2)|p.T155fs*23(2)|p.L145V(2)|p.P58H(2)|p.P58A(2)|p.P58S(2)|p.V147A(2)|p.R156C(2)|p.G154fs*16(2)|p.G154fs*14(2)|p.R156_I162delRVRAMAI(2)|p.V143V(2)|p.P152A(2)|p.T155S(2)|p.Q51*(2)|p.Q144del(2)|p.V11A(2)|p.Q144K(2)|p.V50A(2)|p.P20L(2)|p.P59L(2)|p.D148V(2)|p.Q144Q(2)|p.P153fs*26(2)|p.P153fs*22(2)|p.D148fs*23(2)|p.D148fs*22(2)|p.W146C(2)|p.P19S(2)|p.P19H(2)|p.P19A(2)|p.L137_W146del10(1)|p.T23_R24insDSTPPPGT(1)|p.T150R(1)|p.R156_V157del(1)|p.D148fs*34(1)|p.D148fs*32(1)|p.L145del(1)|p.P152fs*27(1)|p.G154_R156delGTR(1)|p.T155fs*26(1)|p.T155fs*25(1)|p.W146fs*25(1)|p.W146fs*22(1)|p.W146fs*23(1)|p.T155_A161delTRVRAMA(1)|p.G61C(1)|p.W14S(1)|p.P58T(1)|p.P58R(1)|p.Q144_G154del11(1)|p.W146_V147insXXXXXXX(1)|p.P151del(1)|p.T150fs*31(1)|p.Q144fs*32(1)|p.D148_T155delDSTPPPGT(1)|p.R156_A161delRVRAMA(1)|p.R156del(1)|p.R156fs*12(1)|p.R156fs*18(1)|p.T150fs*23(1)|p.W53S(1)|p.T57fs*16(1)|p.A138_V143delAKTCPV(1)|p.T150_P153delTPPP(1)|p.T62P(1)|p.G154A(1)|p.Q51fs*25(1)|p.P152del(1)|p.T62A(1)|p.V143G(1)|p.S149fs*72(1)|p.T62N(1)|p.T62I(1)|p.Q144fs*16(1)|p.P153_G154insX(1)|p.K139fs*4(1)|p.C141fs*5(1)|p.P152_P153del(1)|p.R156_R158delRVR(1)|p.P20R(1)|p.W146_S149>C(1)|p.T23P(1)|p.T150K(1)|p.T23A(1)|p.T23N(1)|p.S149fs*17(1)|p.T23I(1)|p.L145M(1)|p.V143_S149del(1)|p.P152_P153insXXX(1)|p.T155_R156delTR(1)|p.T150_P151delTP(1)|p.Q144fs*4(1)|p.P142_Q144delPVQ(1)|p.P153fs*16(1)|p.D148Y(1)|p.P151_V173del23(1)|p.D148D(1)|p.Q12fs*25(1)|p.D148H(1)|p.P59R(1)|p.D148del(1)|p.G22C(1)|p.R156_A161del(1)|p.P153fs*20(1)|p.W146fs*1(1)|p.T62_R63insDSTPPPGT(1)|p.S149fs*31(1)|p.W146G(1)|p.V147E(1)|p.G154fs*22(1)|p.V147F(1)|p.P19R(1)|p.P19T(1)|p.P153F(1)|p.T18fs*16(1)|p.P153A(1)|p.D148*(1)|p.P153H(1)|p.T155fs*15(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)		GGCGCGGACGCGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCACAGGGCAGGT	0.592		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)			7	156	---	---	---	---					
SSH2	85464	broad.mit.edu	37	17	27959374	27959375	+	Frame_Shift_Ins	INS	-	-	G			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr17:27959374_27959375insG	ENST00000269033.3	-	15	2907_2908	c.2756_2757insC	c.(2755-2757)cgafs	p.R919fs	RP11-68I3.2_ENST00000581474.1_RNA|SSH2_ENST00000540801.1_Frame_Shift_Ins_p.R946fs	NM_033389.2	NP_203747.2	Q76I76	SSH2_HUMAN	slingshot protein phosphatase 2	919					actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity		SSH2/SUZ12(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						ATGAATGTTCTGGGGGGGCTTC	0.480													26	515	---	---	---	---					
ACACA	31	broad.mit.edu	37	17	35600370	35600371	+	Frame_Shift_Ins	INS	-	-	G			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr17:35600370_35600371insG	ENST00000353139.5	-	22	3328_3329	c.2847_2848insC	c.(2845-2850)ccatgtfs	p.C950fs	ACACA_ENST00000394406.2_Frame_Shift_Ins_p.C913fs|ACACA_ENST00000360679.3_Frame_Shift_Ins_p.C855fs|ACACA_ENST00000335166.5_Frame_Shift_Ins_p.C835fs	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	913					acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	TTCTCCACATTGGGGGGAATGC	0.470													7	702	---	---	---	---					
RP11-51L5.7	0	broad.mit.edu	37	17	60360221	60360221	+	Frame_Shift_Del	DEL	C	C	-			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr17:60360221delC	ENST00000602932.1	-	1	55	c.25delG	c.(25-27)acfs	p.D9fs	RP11-51L5.5_ENST00000602493.1_RNA																							CGGGGTAGGTCCCCATTGGTA	0.408													48	24	---	---	---	---					
MARCH10	162333	broad.mit.edu	37	17	60814265	60814266	+	Frame_Shift_Ins	INS	-	-	C			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr17:60814265_60814266insC	ENST00000544856.2	-	7	1338_1339	c.960_961insG	c.(958-963)ggcatcfs	p.I321fs	RP11-156L14.1_ENST00000577270.1_RNA|MARCH10_ENST00000311269.5_Frame_Shift_Ins_p.I322fs|MARCH10_ENST00000583600.1_Frame_Shift_Ins_p.I360fs|RP11-156L14.1_ENST00000582564.1_RNA|MARCH10_ENST00000456609.2_Frame_Shift_Ins_p.I322fs			Q8NA82	MARHA_HUMAN	membrane-associated ring finger (C3HC4) 10, E3 ubiquitin protein ligase	322							ligase activity|zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15)	38						GGGGTCGATGTCCCCCCAAATC	0.460													8	620	---	---	---	---					
FAM104A	84923	broad.mit.edu	37	17	71223356	71223357	+	Frame_Shift_Ins	INS	-	-	G			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr17:71223356_71223357insG	ENST00000405159.3	-	2	332_333	c.268_269insC	c.(268-270)gacfs	p.D90fs	FAM104A_ENST00000403627.3_Frame_Shift_Ins_p.D90fs|FAM104A_ENST00000581110.1_Intron|FAM104A_ENST00000583178.1_5'UTR|FAM104A_ENST00000580032.1_5'UTR|FAM104A_ENST00000583024.1_Intron	NM_001098832.1	NP_001092302.1	Q969W3	F104A_HUMAN	family with sequence similarity 104, member A	90										endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6			LUSC - Lung squamous cell carcinoma(166;0.197)			TCTTTTGGTCTGGGGGGGAAGA	0.416													7	168	---	---	---	---					
ALPK2	115701	broad.mit.edu	37	18	56246441	56246442	+	Frame_Shift_Ins	INS	-	-	C	rs12606191	byFrequency	TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr18:56246441_56246442insC	ENST00000361673.3	-	4	1779_1780	c.1566_1567insG	c.(1564-1569)ggaggafs	p.G523fs	ALPK2_ENST00000587399.1_5'UTR	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	523							ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						CATAAGTCCTTTCCCCCCACTC	0.520											OREG0025011	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	487	---	---	---	---					
SERPINB7	8710	broad.mit.edu	37	18	61449757	61449758	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr18:61449757_61449758delCT	ENST00000398019.2	+	2	476_477	c.151_152delCT	c.(151-153)cfs	p.L51fs	SERPINB7_ENST00000546027.1_Frame_Shift_Del_p.L51fs|SERPINB7_ENST00000540675.1_Frame_Shift_Del_p.L51fs|SERPINB7_ENST00000336429.2_Frame_Shift_Del_p.L51fs	NM_003784.3	NP_003775.1	O75635	SPB7_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 7	51					regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	27		Esophageal squamous(42;0.129)				AGATGACTCCCTCTCTCAGATT	0.470													82	345	---	---	---	---					
ZNF878	729747	broad.mit.edu	37	19	12155624	12155625	+	Frame_Shift_Ins	INS	-	-	T			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr19:12155624_12155625insT	ENST00000602107.1	-	5	731_732	c.732_733insA	c.(730-735)aacctafs	p.NL244fs	CTD-2006C1.10_ENST00000547473.1_Intron|CTD-2006C1.2_ENST00000476474.1_RNA|CTD-2006C1.2_ENST00000591838.1_RNA|ZNF878_ENST00000547628.1_Frame_Shift_Ins_p.NL197fs|CTD-2006C1.2_ENST00000591898.1_RNA			C9JN71	ZN878_HUMAN	zinc finger protein 878	197					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						CATTCATAGGGTTTTTTTGCAG	0.396													8	359	---	---	---	---					
AXL	558	broad.mit.edu	37	19	41743932	41743933	+	Frame_Shift_Ins	INS	-	-	C			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr19:41743932_41743933insC	ENST00000301178.4	+	7	1057_1058	c.867_868insC	c.(865-870)gtccccfs	p.VP289fs	AXL_ENST00000359092.3_Frame_Shift_Ins_p.VP289fs|AXL_ENST00000593513.1_Frame_Shift_Ins_p.VP21fs	NM_001278599.1|NM_021913.3	NP_001265528.1|NP_068713.2	P30530	UFO_HUMAN	AXL receptor tyrosine kinase	289	Fibronectin type-III 1.					integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	48						AAGCATCCGTGCCCCCCCATCA	0.649													8	219	---	---	---	---					
PSG7	5676	broad.mit.edu	37	19	43439519	43439520	+	RNA	INS	-	-	C	rs59911953	by1000genomes	TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr19:43439519_43439520insC	ENST00000406070.2	-	0	527				PSG7_ENST00000446844.3_RNA	NM_002783.2	NP_002774.2	Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy	extracellular region							Prostate(69;0.00682)				AATGACCCCTGCCCCCCAACAC	0.515													7	288	---	---	---	---					
CARD8	22900	broad.mit.edu	37	19	48737669	48737670	+	Frame_Shift_Ins	INS	-	-	C			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr19:48737669_48737670insC	ENST00000391898.3	-	3	382_383	c.340_341insG	c.(340-342)catfs	p.H114fs	CARD8_ENST00000359009.4_Frame_Shift_Ins_p.I23fs|CARD8_ENST00000520753.1_Frame_Shift_Ins_p.H114fs|CARD8_ENST00000447740.2_Frame_Shift_Ins_p.H64fs|ZNF114_ENST00000597695.1_Intron|CARD8_ENST00000520153.1_Frame_Shift_Ins_p.H64fs|CARD8_ENST00000519940.1_Frame_Shift_Ins_p.H114fs|CARD8_ENST00000357778.5_5'UTR|CARD8_ENST00000520015.1_Frame_Shift_Ins_p.H114fs|CARD8_ENST00000521613.1_Frame_Shift_Ins_p.H64fs	NM_001184900.1	NP_001171829.1	Q9Y2G2	CARD8_HUMAN	caspase recruitment domain family, member 8	0					negative regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion	cytoplasm|nucleus	caspase activator activity|NACHT domain binding|protein homodimerization activity			endometrium(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1)	15		all_lung(116;0.000112)|Lung NSC(112;0.000192)|all_epithelial(76;0.000349)|all_neural(266;0.0228)|Ovarian(192;0.113)|Prostate(7;0.184)		OV - Ovarian serous cystadenocarcinoma(262;0.000112)|all cancers(93;0.000293)|Epithelial(262;0.0129)|GBM - Glioblastoma multiforme(486;0.0336)		CCTGGGAATGTCCCCCCCAGAT	0.436													8	269	---	---	---	---					
ZNF160	90338	broad.mit.edu	37	19	53571731	53571732	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr19:53571731_53571732delAG	ENST00000601421.1	-	3	2823_2824	c.1947_1948delCT	c.(1945-1950)gttcfs	p.VF649fs	ZNF160_ENST00000599056.1_Frame_Shift_Del_p.VF685fs|ZNF160_ENST00000429604.1_Frame_Shift_Del_p.VF685fs|ZNF160_ENST00000418871.1_Frame_Shift_Del_p.VF685fs			Q9HCG1	ZN160_HUMAN	zinc finger protein 160	685					hemopoiesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	35				GBM - Glioblastoma multiforme(134;0.02)		TTCTGAGTGAAGACCTTGCCAC	0.441													32	375	---	---	---	---					
CST4	1472	broad.mit.edu	37	20	23667825	23667826	+	Frame_Shift_Ins	INS	-	-	C	rs140501583		TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr20:23667825_23667826insC	ENST00000217423.3	-	2	311_312	c.241_242insG	c.(241-243)gaafs	p.E81fs		NM_001899.2	NP_001890.1	P01036	CYTS_HUMAN	cystatin S	81						extracellular region	cysteine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|large_intestine(2)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	16	Lung NSC(19;0.0789)|Colorectal(13;0.0993)|all_lung(19;0.169)					GAAGTAATTCACCCCCCCAAAG	0.554													13	361	---	---	---	---					
RALGAPB	57148	broad.mit.edu	37	20	37146232	37146233	+	Frame_Shift_Ins	INS	-	-	C			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr20:37146232_37146233insC	ENST00000262879.6	+	8	1419_1420	c.1135_1136insC	c.(1135-1137)cccfs	p.P379fs	RALGAPB_ENST00000397042.3_Frame_Shift_Ins_p.P379fs|RALGAPB_ENST00000397040.1_Frame_Shift_Ins_p.P379fs|RALGAPB_ENST00000537204.1_Frame_Shift_Ins_p.P379fs|RALGAPB_ENST00000397038.1_Frame_Shift_Ins_p.P157fs			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)	379					activation of Ral GTPase activity	intracellular	protein heterodimerization activity|Ral GTPase activator activity	p.H382fs*2(1)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						TGTCAGTACCACCCCCCCACAT	0.446													7	123	---	---	---	---					
SLPI	6590	broad.mit.edu	37	20	43881730	43881731	+	Frame_Shift_Ins	INS	-	-	G			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr20:43881730_43881731insG	ENST00000338380.2	-	3	326_327	c.306_307insC	c.(304-309)ccatttfs	p.F103fs		NM_003064.2	NP_003055.1	P03973	SLPI_HUMAN	secretory leukocyte peptidase inhibitor	103	Elastase inhibitory domain.|WAP 2.					extracellular region	serine-type endopeptidase inhibitor activity			lung(3)|ovary(1)	4		Myeloproliferative disorder(115;0.0122)				TCACAGAAATTGGGGGGGTTAA	0.535													11	317	---	---	---	---					
GRIK1	2897	broad.mit.edu	37	21	30959772	30959772	+	Frame_Shift_Del	DEL	G	G	-			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr21:30959772delG	ENST00000399914.1	-	11	2183	c.1662delC	c.(1660-1662)tcfs	p.S554fs	GRIK1_ENST00000535441.1_Frame_Shift_Del_p.S571fs|GRIK1_ENST00000399913.1_Frame_Shift_Del_p.S569fs|GRIK1_ENST00000389125.3_Frame_Shift_Del_p.S554fs|GRIK1_ENST00000389124.2_Frame_Shift_Del_p.S569fs|GRIK1_ENST00000399907.1_Frame_Shift_Del_p.S569fs|GRIK1_ENST00000399909.1_Frame_Shift_Del_p.S554fs|GRIK1_ENST00000309434.7_Frame_Shift_Del_p.S571fs|GRIK1_ENST00000327783.4_Frame_Shift_Del_p.S569fs			P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	569					central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					L-Glutamic Acid(DB00142)|Topiramate(DB00273)	GGTTGAGGAAGGAGAAAACGC	0.483													44	84	---	---	---	---					
DSCAM	1826	broad.mit.edu	37	21	41514614	41514615	+	Frame_Shift_Ins	INS	-	-	G			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr21:41514614_41514615insG	ENST00000400454.1	-	18	3753_3754	c.3276_3277insC	c.(3274-3279)ccaaaafs	p.PK1092fs		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1092	Fibronectin type-III 3.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	p.E1093K(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TGGACATTTTCGGGGGGGTAAC	0.406													12	825	---	---	---	---					
CECR2	27443	broad.mit.edu	37	22	18022285	18022286	+	Frame_Shift_Ins	INS	-	-	C			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr22:18022285_18022286insC	ENST00000262608.8	+	15	2390_2391	c.2390_2391insC	c.(2389-2391)gccfs	p.A797fs	CECR2_ENST00000400585.2_Frame_Shift_Ins_p.A655fs|CECR2_ENST00000400573.4_Frame_Shift_Ins_p.A796fs	NM_031413.3	NP_113601.2	Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	838					chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport		protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		AGACCACCTGTCCCCCCCAACC	0.609													8	169	---	---	---	---					
DDX17	10521	broad.mit.edu	37	22	38895454	38895455	+	Frame_Shift_Ins	INS	-	-	C			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr22:38895454_38895455insC	ENST00000396821.3	-	3	587_588	c.488_489insG	c.(487-489)ggafs	p.G163fs	DDX17_ENST00000381633.3_Frame_Shift_Ins_p.G84fs|DDX17_ENST00000432525.1_5'UTR	NM_001098504.1|NM_006386.4	NP_001091974.1|NP_006377.2	Q92841	DDX17_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 17	84	Helicase ATP-binding.				RNA processing	nucleus	ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity|RNA-dependent ATPase activity	p.G163fs*20(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	25	Melanoma(58;0.0286)					GACAAACATCTCCCCCCCTCAC	0.381													8	152	---	---	---	---					
TCF20	6942	broad.mit.edu	37	22	42610947	42610948	+	Frame_Shift_Ins	INS	-	-	G	rs138734341		TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chr22:42610947_42610948insG	ENST00000359486.3	-	1	500_501	c.364_365insC	c.(364-366)gggfs	p.G122fs	TCF20_ENST00000335626.4_Frame_Shift_Ins_p.G122fs	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	122				Q -> R (in Ref. 1).	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						GCTGCTCCCCTGGGGGGGTCCA	0.564													11	299	---	---	---	---					
USP9X	8239	broad.mit.edu	37	X	40982956	40982957	+	Frame_Shift_Ins	INS	-	-	C			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chrX:40982956_40982957insC	ENST00000324545.7	+	2	708_709	c.75_76insC	c.(73-78)caccccfs	p.HP25fs	USP9X_ENST00000378308.2_Frame_Shift_Ins_p.HP25fs	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	25				Q -> L (in Ref. 1; CAA66942).	BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						GACAGTCTCAGCCCCCCCTCCA	0.540													9	138	---	---	---	---					
GPR112	139378	broad.mit.edu	37	X	135426885	135426886	+	Frame_Shift_Ins	INS	-	-	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	acda0651-22e0-4e31-a14c-204eb7b5bf8e	g.chrX:135426885_135426886insA	ENST00000394143.1	+	6	1311_1312	c.1020_1021insA	c.(1018-1023)ataaaafs	p.IK340fs	GPR112_ENST00000370652.1_Frame_Shift_Ins_p.IK340fs|GPR112_ENST00000287534.4_Frame_Shift_Ins_p.IK277fs|GPR112_ENST00000412101.1_Frame_Shift_Ins_p.IK135fs|GPR112_ENST00000394141.1_Frame_Shift_Ins_p.IK135fs	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	340					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)					CCAATTCCATGAAAAAAACGAA	0.386													8	641	---	---	---	---					
F3	2152	broad.mit.edu	37	1	95001694	95001695	+	Frame_Shift_Ins	INS	-	-	C			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr1:95001694_95001695insC	ENST00000334047.7	-	3	401_402	c.238_239insG	c.(238-240)atgfs	p.M80fs	F3_ENST00000480356.1_5'UTR|F3_ENST00000370207.4_Frame_Shift_Ins_p.M80fs	NM_001993.4	NP_001984.1	P13726	TF_HUMAN	coagulation factor III (thromboplastin, tissue factor)	80					activation of caspase activity|activation of plasma proteins involved in acute inflammatory response|anti-apoptosis|blood coagulation, extrinsic pathway|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of platelet-derived growth factor receptor signaling pathway|positive regulation of protein kinase B signaling cascade	extracellular matrix|extracellular space|integral to membrane	cell surface binding|phospholipid binding|protease binding			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(7)	14		all_lung(203;0.00106)|Lung NSC(277;0.00475)		all cancers(265;0.0232)|Epithelial(280;0.121)	Coagulation factor VIIa(DB00036)	GTAAAAGCATTTGCTTTTCCAA	0.446													13	340	---	---	---	---					
XCL2	6846	broad.mit.edu	37	1	168510352	168510352	+	Frame_Shift_Del	DEL	A	A	-			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr1:168510352delA	ENST00000367819.2	-	3	215	c.183delT	c.(181-183)atfs	p.I61fs		NM_003175.3	NP_003166.1	Q9UBD3	XCL2_HUMAN	chemokine (C motif) ligand 2	61					blood circulation|chemotaxis|immune response|signal transduction	extracellular space	chemokine activity			large_intestine(1)|lung(6)|ovary(1)	8	all_hematologic(923;0.215)					CACGTTTGGTAATAAAACTGT	0.468													22	406	---	---	---	---					
XCL1	6375	broad.mit.edu	37	1	168550290	168550290	+	Splice_Site	DEL	T	T	-			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr1:168550290delT	ENST00000367818.3	+	3	342	c.176_splice	c.e3-1	p.I59_splice		NM_002995.2	NP_002986.1	P47992	XCL1_HUMAN	chemokine (C motif) ligand 1	59					CD4-positive, alpha-beta T cell proliferation|CD8-positive, alpha-beta T cell proliferation|cell-cell signaling|cellular response to interleukin-4|cellular response to transforming growth factor beta stimulus|immunoglobulin production in mucosal tissue|lymphocyte chemotaxis|negative regulation of interferon-gamma production|negative regulation of interleukin-2 production|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of T cell cytokine production|negative regulation of T-helper 1 cell activation|negative regulation of transcription, DNA-dependent|neutrophil chemotaxis|positive regulation of activated T cell proliferation|positive regulation of B cell chemotaxis|positive regulation of granzyme A production|positive regulation of granzyme B production|positive regulation of interleukin-10 production|positive regulation of natural killer cell chemotaxis|positive regulation of neutrophil chemotaxis|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of T cell chemotaxis|positive regulation of T cell cytokine production|positive regulation of T cell mediated cytotoxicity|positive regulation of thymocyte migration|positive regulation of transforming growth factor-beta production|regulation of inflammatory response|release of sequestered calcium ion into cytosol|response to virus|T-helper 1 cell cytokine production|T-helper 2 cell cytokine production	extracellular space	chemokine activity|protein homodimerization activity			kidney(2)|lung(7)|upper_aerodigestive_tract(1)	10	all_hematologic(923;0.208)					TGCGTTACAGTTTTATTACCA	0.463													10	97	---	---	---	---					
NFU1	27247	broad.mit.edu	37	2	69659083	69659084	+	Translation_Start_Site	DEL	CT	CT	-			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr2:69659083_69659084delCT	ENST00000394305.1	-	0	404_405				NFU1_ENST00000471185.1_5'UTR|NFU1_ENST00000303698.3_Frame_Shift_Del_p.Q15fs|NFU1_ENST00000410022.2_Frame_Shift_Del_p.Q39fs	NM_001002756.2	NP_001002756.1	Q9UMS0	NFU1_HUMAN	NFU1 iron-sulfur cluster scaffold homolog (S. cerevisiae)						iron-sulfur cluster assembly	cytosol|mitochondrion|nucleus	4 iron, 4 sulfur cluster binding|iron ion binding|protein binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)	7						TTTGTACAAACTGATGCAGAGG	0.371													23	77	---	---	---	---					
DYSF	8291	broad.mit.edu	37	2	71801420	71801422	+	In_Frame_Del	DEL	CCG	CCG	-			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr2:71801420_71801422delCCG	ENST00000258104.3	+	30	3544_3546	c.3267_3269delCCG	c.(3265-3270)ttc>tt	p.FR1089del	DYSF_ENST00000410020.3_In_Frame_Del_p.FR1107del|DYSF_ENST00000409762.1_In_Frame_Del_p.FR1106del|DYSF_ENST00000409582.3_In_Frame_Del_p.FR1106del|DYSF_ENST00000413539.2_In_Frame_Del_p.FR1120del|DYSF_ENST00000409366.1_In_Frame_Del_p.FR1090del|DYSF_ENST00000410041.1_In_Frame_Del_p.FR1107del|DYSF_ENST00000429174.2_In_Frame_Del_p.FR1089del|DYSF_ENST00000409651.1_In_Frame_Del_p.FR1121del|DYSF_ENST00000394120.2_In_Frame_Del_p.FR1090del|DYSF_ENST00000409744.1_In_Frame_Del_p.FR1076del	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1089	Arg-rich.					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						CAGATGCCTTCCGCCGCCGCCGC	0.655													15	46	---	---	---	---					
ALMS1	7840	broad.mit.edu	37	2	73678333	73678333	+	Frame_Shift_Del	DEL	C	C	-			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr2:73678333delC	ENST00000264448.6	+	8	4787	c.4676delC	c.(4675-4677)aafs	p.T1560fs	ALMS1_ENST00000409009.1_Frame_Shift_Del_p.T1518fs|ALMS1_ENST00000377715.1_Frame_Shift_Del_p.T1560fs	NM_015120.4	NP_055935.4	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	1560	34 X 47 AA approximate tandem repeat.				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						GCTGACCAGACAACTGGCATA	0.468													47	233	---	---	---	---					
IGKV1D-43	28891	broad.mit.edu	37	2	90249072	90249072	+	RNA	DEL	A	A	-			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr2:90249072delA	ENST00000468879.1	+	0	236																											AATTGTATGGACATTTGTGTT	0.473													66	130	---	---	---	---					
ATP13A3	79572	broad.mit.edu	37	3	194169249	194169250	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr3:194169249_194169250delTC	ENST00000439040.1	-	12	1877_1878	c.1086_1087delGA	c.(1084-1089)ggcafs	p.GT362fs	ATP13A3_ENST00000256031.4_Frame_Shift_Del_p.GT362fs			Q9H7F0	AT133_HUMAN	ATPase type 13A3	362					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	24	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)		ATAACAGTTGTCCCACAAAACA	0.351													370	461	---	---	---	---					
RASGRF2	5924	broad.mit.edu	37	5	80369227	80369228	+	Frame_Shift_Ins	INS	-	-	C			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr5:80369227_80369228insC	ENST00000265080.4	+	5	910_911	c.843_844insC	c.(841-846)aaccccfs	p.NP281fs	RASGRF2_ENST00000502677.1_3'UTR	NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 2	281	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	protein binding|Rho guanyl-nucleotide exchange factor activity			biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		GCTCCAAGAAGCCCCCCATCAG	0.490													13	68	---	---	---	---					
OR5V1	81696	broad.mit.edu	37	6	29323407	29323407	+	Frame_Shift_Del	DEL	C	C	-			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr6:29323407delC	ENST00000377154.1	-	4	865	c.566delG	c.(565-567)ttfs	p.C189fs	OR5V1_ENST00000543825.1_Frame_Shift_Del_p.C189fs			Q9UGF6	OR5V1_HUMAN	olfactory receptor, family 5, subfamily V, member 1	189					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(3)|large_intestine(3)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						AGTGTTTCCACAAGACAAGAT	0.443													138	496	---	---	---	---					
VNN3	55350	broad.mit.edu	37	6	133048074	133048074	+	Frame_Shift_Del	DEL	C	C	-			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr6:133048074delC	ENST00000367927.5	-	4	687	c.615delG	c.(613-615)ggfs	p.G205fs	VNN3_ENST00000417437.2_Intron|VNN3_ENST00000509351.1_Intron|VNN3_ENST00000275223.3_Intron|VNN3_ENST00000392393.3_Intron|VNN3_ENST00000207771.3_Frame_Shift_Del_p.G205fs|VNN3_ENST00000425515.2_3'UTR|VNN3_ENST00000519686.2_Intron|VNN3_ENST00000423615.2_Intron|VNN3_ENST00000450865.2_Intron|VNN3_ENST00000427187.2_Intron|VNN3_ENST00000414302.2_3'UTR					vanin 3											cervix(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)|stomach(1)	8	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00242)|GBM - Glioblastoma multiforme(226;0.0168)		TGCCAAACTTCCCAAAGGGAG	0.398													17	29	---	---	---	---					
RP11-235G24.1	0	broad.mit.edu	37	6	161319545	161319545	+	RNA	DEL	A	A	-			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr6:161319545delA	ENST00000454826.1	-	0	207																											TTAAATAAAGAAAAACACTTA	0.368													25	36	---	---	---	---					
ABCB5	340273	broad.mit.edu	37	7	20685588	20685589	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr7:20685588_20685589delAC	ENST00000404938.2	+	9	1460_1461	c.808_809delAC	c.(808-810)afs	p.T270fs		NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	456	ABC transmembrane type-1.				regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						TGTAAGGTATACACAGAATCTC	0.347													35	100	---	---	---	---					
PRRC2B	84726	broad.mit.edu	37	9	134349850	134349851	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr9:134349850_134349851delCT	ENST00000357304.4	+	15	2389_2390	c.2334_2335delCT	c.(2332-2337)agctfs	p.SS778fs	PRRC2B_ENST00000405995.1_Intron|PRRC2B_ENST00000372249.1_5'UTR|PRRC2B_ENST00000458550.1_Intron	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN	proline-rich coiled-coil 2B	778							protein binding			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						GGAATGAAAGCTCTTTCTCTGC	0.475													21	87	---	---	---	---					
H3F3C	440093	broad.mit.edu	37	12	31945092	31945093	+	Frame_Shift_Ins	INS	-	-	A			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr12:31945092_31945093insA	ENST00000340398.3	-	1	82_83	c.8_9insT	c.(7-9)cacfs	p.H3fs		NM_001013699.2	NP_001013721.2	Q6NXT2	H3C_HUMAN	H3 histone, family 3C	3					nucleosome assembly	nucleosome|nucleus	DNA binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	18						TCTGCTTGGTTCGGGCCATTTT	0.609										HNSCC(67;0.2)			19	40	---	---	---	---					
DCTN2	10540	broad.mit.edu	37	12	57927805	57927806	+	Frame_Shift_Ins	INS	-	-	G			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr12:57927805_57927806insG	ENST00000548249.1	-	7	866_867	c.599_600insC	c.(598-600)cgafs	p.R200fs	DCTN2_ENST00000543672.1_Frame_Shift_Ins_p.R205fs|DCTN2_ENST00000434715.3_Frame_Shift_Ins_p.R205fs|DCTN2_ENST00000537439.1_Frame_Shift_Ins_p.R177fs	NM_001261412.1|NM_001261413.1	NP_001248341.1|NP_001248342.1	Q13561	DCTN2_HUMAN	dynactin 2 (p50)	200					cell proliferation|G2/M transition of mitotic cell cycle|mitosis	centrosome|cytosol|dynactin complex|dynein complex|kinetochore|membrane|microtubule|vesicle	motor activity|protein binding			endometrium(1)|large_intestine(4)|lung(2)|ovary(2)|upper_aerodigestive_tract(2)	11						GGCTGCTATCTGGGGGGGTCCC	0.500													7	99	---	---	---	---					
TMTC3	160418	broad.mit.edu	37	12	88553910	88553910	+	Frame_Shift_Del	DEL	G	G	-			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr12:88553910delG	ENST00000266712.6	+	5	748	c.528delG	c.(526-528)ttfs	p.L176fs		NM_181783.3	NP_861448.2	Q6ZXV5	TMTC3_HUMAN	transmembrane and tetratricopeptide repeat containing 3	176						integral to membrane	binding			NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|liver(1)|lung(12)|prostate(4)|skin(1)	31						CAATTGCCTTGACAGTGTTTT	0.308													155	321	---	---	---	---					
PGAM5	192111	broad.mit.edu	37	12	133294121	133294121	+	Frame_Shift_Del	DEL	C	C	-			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr12:133294121delC	ENST00000498926.2	+	3	525	c.467delC	c.(466-468)acfs	p.T157fs	PGAM5_ENST00000454808.2_Frame_Shift_Del_p.T8fs|PGAM5_ENST00000543955.1_Frame_Shift_Del_p.T8fs|PGAM5_ENST00000317555.2_Frame_Shift_Del_p.T157fs|PXMP2_ENST00000545677.1_3'UTR	NM_001170543.1|NM_001170544.1	NP_001164014.1|NP_001164015.1	Q96HS1	PGAM5_HUMAN	phosphoglycerate mutase family member 5	157						integral to membrane|mitochondrial outer membrane	phosphoprotein phosphatase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	5	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.89e-08)|Epithelial(86;1.14e-07)|all cancers(50;3.57e-06)		GCCATAGAGACCACCGATATC	0.632													2	4	---	---	---	---					
MAPKBP1	23005	broad.mit.edu	37	15	42092080	42092080	+	Frame_Shift_Del	DEL	C	C	-			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr15:42092080delC	ENST00000457542.2	+	3	460	c.174delC	c.(172-174)gafs	p.D58fs	MAPKBP1_ENST00000514566.1_Frame_Shift_Del_p.D58fs|MAPKBP1_ENST00000507762.1_3'UTR|MAPKBP1_ENST00000456763.2_Frame_Shift_Del_p.D58fs|MAPKBP1_ENST00000260357.7_Intron|MAPKBP1_ENST00000221214.6_Frame_Shift_Del_p.D58fs	NM_014994.2	NP_055809.2	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein 1	58										breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		TTGCCTGTGACCCCCGATCAG	0.502													80	227	---	---	---	---					
GRIN2A	2903	broad.mit.edu	37	16	10273964	10273964	+	Frame_Shift_Del	DEL	T	T	-			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr16:10273964delT	ENST00000396573.2	-	3	614	c.305delA	c.(304-306)gcfs	p.D103fs	GRIN2A_ENST00000330684.3_Frame_Shift_Del_p.D103fs|GRIN2A_ENST00000404927.2_Frame_Shift_Del_p.D103fs|GRIN2A_ENST00000562109.1_Frame_Shift_Del_p.D103fs|GRIN2A_ENST00000396575.2_Frame_Shift_Del_p.D103fs	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	103					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GTCCGTGTCGTCCCCAAACAC	0.602													31	142	---	---	---	---					
TP53	7157	broad.mit.edu	37	17	7578463	7578502	+	Frame_Shift_Del	DEL	CGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCA	CGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCA	-	rs137852790		TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr17:7578463_7578502delCGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCA	ENST00000420246.2	-	5	560_599	c.428_467delTGCAGCTGTGGGTTGATTCCACACCCCCGCCCGGCACCCG	c.(427-468)gcfs	p.VQLWVDSTPPPGTR143fs	TP53_ENST00000269305.4_Frame_Shift_Del_p.VQLWVDSTPPPGTR143fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.VQLWVDSTPPPGTR143fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.VQLWVDSTPPPGTR143fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.VQLWVDSTPPPGTR143fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.VQLWVDSTPPPGTR143fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	143	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		V -> A (in sporadic cancers; somatic mutation; strong DNA binding ability at 32.5 degrees Celsius; strong reduction of transcriptional activity at 37.5 degrees Celsius).|V -> E (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).|V -> M (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.W146*(72)|p.P151S(68)|p.P152L(66)|p.G154V(46)|p.Q144*(36)|p.P151H(31)|p.R156P(24)|p.T155N(22)|p.P152S(22)|p.V143A(18)|p.P152fs*18(18)|p.L145Q(17)|p.L145P(17)|p.T155P(17)|p.P151T(16)|p.T155I(14)|p.P151A(13)|p.G154G(12)|p.P151P(12)|p.R156fs*14(11)|p.P153fs*28(11)|p.R156H(10)|p.T155A(10)|p.G154S(9)|p.P151R(9)|p.L145L(8)|p.P152R(8)|p.0?(8)|p.Q144L(8)|p.P153S(8)|p.L145R(7)|p.P151fs*30(7)|p.P152T(7)|p.P151L(7)|p.P153P(7)|p.G154D(6)|p.T150fs*16(6)|p.V147G(6)|p.S149S(6)|p.S149F(6)|p.V147I(6)|p.P153L(6)|p.V147D(5)|p.P152fs*29(5)|p.V143E(5)|p.V147fs*23(5)|p.W146R(5)|p.T155T(5)|p.S149fs*32(5)|p.P152P(5)|p.P152fs*14(5)|p.?(5)|p.G154C(4)|p.P152Q(4)|p.T150I(4)|p.Q144H(4)|p.D148E(4)|p.Q144R(4)|p.Q144P(4)|p.D148N(4)|p.S149P(4)|p.W146S(4)|p.W14*(3)|p.P152fs*28(3)|p.G61V(3)|p.R156S(3)|p.R156fs*25(3)|p.R156G(3)|p.R156L(3)|p.Q144fs*25(3)|p.Q144fs*26(3)|p.G154I(3)|p.W53*(3)|p.T155_R156insDSTPPPGT(3)|p.S149fs*21(3)|p.G22V(3)|p.P153T(3)|p.G154fs*27(3)|p.V147V(3)|p.Q12*(2)|p.D148fs*33(2)|p.S149T(2)|p.T155fs*23(2)|p.L145V(2)|p.P58H(2)|p.P58A(2)|p.P58S(2)|p.V147A(2)|p.R156C(2)|p.G154fs*16(2)|p.G154fs*14(2)|p.R156_I162delRVRAMAI(2)|p.V143V(2)|p.P152A(2)|p.T155S(2)|p.Q51*(2)|p.Q144del(2)|p.V11A(2)|p.Q144K(2)|p.V50A(2)|p.P20L(2)|p.P59L(2)|p.D148V(2)|p.Q144Q(2)|p.P153fs*26(2)|p.P153fs*22(2)|p.D148fs*23(2)|p.D148fs*22(2)|p.W146C(2)|p.P19S(2)|p.P19H(2)|p.P19A(2)|p.L137_W146del10(1)|p.T23_R24insDSTPPPGT(1)|p.T150R(1)|p.R156_V157del(1)|p.D148fs*34(1)|p.D148fs*32(1)|p.L145del(1)|p.P152fs*27(1)|p.G154_R156delGTR(1)|p.T155fs*26(1)|p.T155fs*25(1)|p.W146fs*25(1)|p.W146fs*22(1)|p.W146fs*23(1)|p.T155_A161delTRVRAMA(1)|p.G61C(1)|p.W14S(1)|p.P58T(1)|p.P58R(1)|p.Q144_G154del11(1)|p.W146_V147insXXXXXXX(1)|p.P151del(1)|p.T150fs*31(1)|p.Q144fs*32(1)|p.D148_T155delDSTPPPGT(1)|p.R156_A161delRVRAMA(1)|p.R156del(1)|p.R156fs*12(1)|p.R156fs*18(1)|p.T150fs*23(1)|p.W53S(1)|p.T57fs*16(1)|p.A138_V143delAKTCPV(1)|p.T150_P153delTPPP(1)|p.T62P(1)|p.G154A(1)|p.Q51fs*25(1)|p.P152del(1)|p.T62A(1)|p.V143G(1)|p.S149fs*72(1)|p.T62N(1)|p.T62I(1)|p.Q144fs*16(1)|p.P153_G154insX(1)|p.K139fs*4(1)|p.C141fs*5(1)|p.P152_P153del(1)|p.R156_R158delRVR(1)|p.P20R(1)|p.W146_S149>C(1)|p.T23P(1)|p.T150K(1)|p.T23A(1)|p.T23N(1)|p.S149fs*17(1)|p.T23I(1)|p.L145M(1)|p.V143_S149del(1)|p.P152_P153insXXX(1)|p.T155_R156delTR(1)|p.T150_P151delTP(1)|p.Q144fs*4(1)|p.P142_Q144delPVQ(1)|p.P153fs*16(1)|p.D148Y(1)|p.P151_V173del23(1)|p.D148D(1)|p.Q12fs*25(1)|p.D148H(1)|p.P59R(1)|p.D148del(1)|p.G22C(1)|p.R156_A161del(1)|p.P153fs*20(1)|p.W146fs*1(1)|p.T62_R63insDSTPPPGT(1)|p.S149fs*31(1)|p.W146G(1)|p.V147E(1)|p.G154fs*22(1)|p.V147F(1)|p.P19R(1)|p.P19T(1)|p.P153F(1)|p.T18fs*16(1)|p.P153A(1)|p.D148*(1)|p.P153H(1)|p.T155fs*15(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)		GGCGCGGACGCGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCACAGGGCAGGT	0.592		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)			7	156	---	---	---	---					
RP11-51L5.7	0	broad.mit.edu	37	17	60360221	60360221	+	Frame_Shift_Del	DEL	C	C	-			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr17:60360221delC	ENST00000602932.1	-	1	55	c.25delG	c.(25-27)acfs	p.D9fs	RP11-51L5.5_ENST00000602493.1_RNA																							CGGGGTAGGTCCCCATTGGTA	0.408													48	24	---	---	---	---					
SERPINB7	8710	broad.mit.edu	37	18	61449757	61449758	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr18:61449757_61449758delCT	ENST00000398019.2	+	2	476_477	c.151_152delCT	c.(151-153)cfs	p.L51fs	SERPINB7_ENST00000540675.1_Frame_Shift_Del_p.L51fs|SERPINB7_ENST00000546027.1_Frame_Shift_Del_p.L51fs|SERPINB7_ENST00000336429.2_Frame_Shift_Del_p.L51fs	NM_003784.3	NP_003775.1	O75635	SPB7_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 7	51					regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	27		Esophageal squamous(42;0.129)				AGATGACTCCCTCTCTCAGATT	0.470													82	345	---	---	---	---					
C19orf40	91442	broad.mit.edu	37	19	33464113	33464114	+	Frame_Shift_Ins	INS	-	-	C			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr19:33464113_33464114insC	ENST00000588258.1	+	2	121_122	c.11_12insC	c.(10-12)accfs	p.T4fs	C19orf40_ENST00000589646.1_Intron|C19orf40_ENST00000590179.1_Intron|C19orf40_ENST00000590281.1_Frame_Shift_Ins_p.T4fs	NM_152266.3	NP_689479.1	Q9BTP7	FAP24_HUMAN	chromosome 19 open reading frame 40	4					DNA repair	Fanconi anaemia nuclear complex	chromatin binding|DNA binding|protein binding			endometrium(1)|large_intestine(2)|lung(2)|prostate(2)	7	Esophageal squamous(110;0.137)					ATGGAAAAGAACCCCCCTGATG	0.609								Direct reversal of damage					8	1451	---	---	---	---					
MARK4	57787	broad.mit.edu	37	19	45805663	45805664	+	Frame_Shift_Ins	INS	-	-	C			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr19:45805663_45805664insC	ENST00000300843.4	+	18	2331_2332	c.2034_2035insC	c.(2032-2037)ccccccfs	p.PP678fs	MARK4_ENST00000262891.4_Frame_Shift_Ins_p.P652fs	NM_031417.3	NP_113605.2	Q96L34	MARK4_HUMAN	MAP/microtubule affinity-regulating kinase 4	0					microtubule bundle formation|nervous system development|positive regulation of programmed cell death	centrosome|neuron projection	ATP binding|gamma-tubulin binding|microtubule binding|protein serine/threonine kinase activity|tau-protein kinase activity|ubiquitin binding			NS(1)|biliary_tract(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	31		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0102)		AACGGAAACCGCCCCCCGGCTG	0.639													7	182	---	---	---	---					
ZNF160	90338	broad.mit.edu	37	19	53571731	53571732	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr19:53571731_53571732delAG	ENST00000601421.1	-	3	2823_2824	c.1947_1948delCT	c.(1945-1950)gttcfs	p.VF649fs	ZNF160_ENST00000418871.1_Frame_Shift_Del_p.VF685fs|ZNF160_ENST00000429604.1_Frame_Shift_Del_p.VF685fs|ZNF160_ENST00000599056.1_Frame_Shift_Del_p.VF685fs			Q9HCG1	ZN160_HUMAN	zinc finger protein 160	685					hemopoiesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	35				GBM - Glioblastoma multiforme(134;0.02)		TTCTGAGTGAAGACCTTGCCAC	0.441													32	375	---	---	---	---					
GRIK1	2897	broad.mit.edu	37	21	30959772	30959772	+	Frame_Shift_Del	DEL	G	G	-			TCGA-64-1678-01A-01W-0928-08	TCGA-64-1678-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42e3b592-b57f-4b18-8f62-e7b0a9c0f1db	2aa42ec8-ed87-45df-89d5-c6037ef0c399	g.chr21:30959772delG	ENST00000399914.1	-	11	2183	c.1662delC	c.(1660-1662)tcfs	p.S554fs	GRIK1_ENST00000309434.7_Frame_Shift_Del_p.S571fs|GRIK1_ENST00000399909.1_Frame_Shift_Del_p.S554fs|GRIK1_ENST00000535441.1_Frame_Shift_Del_p.S571fs|GRIK1_ENST00000399907.1_Frame_Shift_Del_p.S569fs|GRIK1_ENST00000327783.4_Frame_Shift_Del_p.S569fs|GRIK1_ENST00000399913.1_Frame_Shift_Del_p.S569fs|GRIK1_ENST00000389124.2_Frame_Shift_Del_p.S569fs|GRIK1_ENST00000389125.3_Frame_Shift_Del_p.S554fs			P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	569					central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					L-Glutamic Acid(DB00142)|Topiramate(DB00273)	GGTTGAGGAAGGAGAAAACGC	0.483													44	84	---	---	---	---