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
BCL6B	255877	broad.mit.edu	37	17	6930825	6930825	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr17:6930825G>A	ENST00000293805.5	+	9	1419	c.1327G>A	c.(1327-1329)Gac>Aac	p.D443N		NM_181844.3	NP_862827.1	Q8N143	BCL6B_HUMAN	B-cell CLL/lymphoma 6, member B	443						nucleus	zinc ion binding			skin(1)	1						CCCACAGTGCGACCCCTGTGG	0.592000													14	19					0	0	0.000219431	0	0
WDR54	84058	broad.mit.edu	37	2	74650500	74650500	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr2:74650500G>A	ENST00000348227.4	+	4	428	c.340G>A	c.(340-342)Gat>Aat	p.D114N	WDR54_ENST00000461531.1_3'UTR|WDR54_ENST00000409791.1_Missense_Mutation_p.D62N	NM_032118.2	NP_115494.1	Q9H977	WDR54_HUMAN	WD repeat domain 54	114										breast(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	9						GGACTCTGGAGATGCCTCCCC	0.562000													42	27					0	0	0.000509022	0	0
BAZ2B	29994	broad.mit.edu	37	2	160289424	160289424	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr2:160289424G>A	ENST00000392783.2	-	9	2239	c.1744C>T	c.(1744-1746)Cat>Tat	p.H582Y	BAZ2B_ENST00000343439.5_Missense_Mutation_p.H580Y|BAZ2B_ENST00000355831.2_Missense_Mutation_p.H582Y|BAZ2B_ENST00000392782.1_Missense_Mutation_p.H580Y	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	582					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						TTTGCAGGATGGGAGTGATGC	0.418000													24	56					0	0	0.00047179	0	0
C10orf71	118461	broad.mit.edu	37	10	50531295	50531295	+	Silent	SNP	C	C	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr10:50531295C>T	ENST00000374144.3	+	3	993	c.705C>T	c.(703-705)ttC>ttT	p.F235F	C10orf71_ENST00000323868.4_Silent_p.F235F			Q711Q0	CJ071_HUMAN	chromosome 10 open reading frame 71	235										endometrium(1)	1						CCAGCAGCTTCCTCCCAGCAG	0.567000													10	0					0	0	0.000673444	0	0
C8orf76	84933	broad.mit.edu	37	8	124250170	124250170	+	Silent	SNP	C	C	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr8:124250170C>T	ENST00000276704.4	-	3	276	c.225G>A	c.(223-225)caG>caA	p.Q75Q	ZHX1-C8ORF76_ENST00000357082.4_Silent_p.Q43Q|C8orf76_ENST00000521310.1_5'UTR	NM_032847.2	NP_116236.1	Q96K31	CH076_HUMAN	chromosome 8 open reading frame 76	75							binding			NS(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(4)	17	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		STAD - Stomach adenocarcinoma(47;0.00527)			TGGAATACTCCTGCAGTGCTT	0.398000													11	43					0	0	0.000219431	0	0
CACNA1E	777	broad.mit.edu	37	1	181764090	181764090	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr1:181764090G>A	ENST00000526775.1	+	44	6097	c.5932G>A	c.(5932-5934)Gag>Aag	p.E1978K	CACNA1E_ENST00000367567.4_Missense_Mutation_p.E1604K|CACNA1E_ENST00000367573.2_Missense_Mutation_p.E2040K|CACNA1E_ENST00000360108.3_Missense_Mutation_p.E2021K|CACNA1E_ENST00000358338.5_Missense_Mutation_p.E1929K|CACNA1E_ENST00000367570.1_Missense_Mutation_p.E1997K|CACNA1E_ENST00000357570.5_Missense_Mutation_p.E1991K	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	2040					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			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						ATTCTCCATGGAGCGAAGCAG	0.522000													36	23					0	0	0.00170553	0	0
TDRD9	122402	broad.mit.edu	37	14	104493225	104493225	+	Silent	SNP	C	C	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr14:104493225C>T	ENST00000409874.4	+	28	3279	c.3231C>T	c.(3229-3231)gtC>gtT	p.V1077V	TDRD9_ENST00000339063.5_Silent_p.V1077V	NM_153046.2	NP_694591.2	Q8NDG6	TDRD9_HUMAN	tudor domain containing 9	1077					cell differentiation|DNA methylation involved in gamete generation|fertilization|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	nucleus|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0768)				TAAGAGACGTCCTCATCCAGC	0.572000													14	16					0	0	0.000308642	0	0
MTCH1	23787	broad.mit.edu	37	6	36937767	36937767	+	Silent	SNP	G	G	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr6:36937767G>A	ENST00000538808.1	-	10	893	c.627C>T	c.(625-627)atC>atT	p.I209I	MTCH1_ENST00000373616.5_Intron|MTCH1_ENST00000471737.1_Intron|MTCH1_ENST00000373627.5_Intron			Q9NZJ7	MTCH1_HUMAN	mitochondrial carrier 1	139					activation of caspase activity|neuronal ion channel clustering|positive regulation of apoptosis|regulation of signal transduction|transport	integral to membrane|mitochondrial inner membrane	protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	6						TCAGCTGAAGGATGTAGCAAA	0.453000													4	13					0	0	0.00024832	0	0
PIGO	84720	broad.mit.edu	37	9	35093548	35093548	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr9:35093548G>A	ENST00000378617.3	-	5	1203	c.809C>T	c.(808-810)aCa>aTa	p.T270I	PIGO_ENST00000298004.5_Missense_Mutation_p.T270I|PIGO_ENST00000341666.3_Missense_Mutation_p.T270I|PIGO_ENST00000361778.2_Missense_Mutation_p.T270I	NM_032634.3	NP_116023.2	Q8TEQ8	PIGO_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class O	270					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	transferase activity			endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			TACCAGCAGTGTGTCATTCTC	0.483000													8	2					0	0	0.000673444	0	0
ITGB2	3689	broad.mit.edu	37	21	46309219	46309219	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr21:46309219C>T	ENST00000397850.2	-	14	2301	c.1849G>A	c.(1849-1851)Ggc>Agc	p.G617S	ITGB2_ENST00000302347.5_Missense_Mutation_p.G617S|ITGB2_ENST00000355153.4_Missense_Mutation_p.G617S|ITGB2_ENST00000397854.3_Missense_Mutation_p.G560S|ITGB2_ENST00000397857.1_Missense_Mutation_p.G617S|ITGB2_ENST00000397852.1_Missense_Mutation_p.G617S			P05107	ITB2_HUMAN	integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)	617	Cysteine-rich tandem repeats.				apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation	integrin complex	glycoprotein binding|protein kinase binding|receptor activity			breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(4)|skin(3)	35				Colorectal(79;0.0669)	Simvastatin(DB00641)	GAGGGGCAGCCGGGGCACTCC	0.682000													17	31					0	0	0.00188189	0	0
GPR98	84059	broad.mit.edu	37	5	90016856	90016856	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr5:90016856C>T	ENST00000405460.2	+	45	9824	c.9728C>T	c.(9727-9729)tCt>tTt	p.S3243F		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	3243					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GAGACAGTATCTGAAACAGCC	0.353000													27	35					0	0	0.00106085	0	0
OR4M2	390538	broad.mit.edu	37	15	22369378	22369378	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr15:22369378C>T	ENST00000332663.2	+	1	901	c.803C>T	c.(802-804)tCc>tTc	p.S268F	RP11-69H14.6_ENST00000558896.1_RNA	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M, member 2	268					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S268F(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)		GACTCGTTTTCCCTAGATAAA	0.423000													6	33					0	0	0.00198382	0	0
GBF1	8729	broad.mit.edu	37	10	104128020	104128020	+	Silent	SNP	G	G	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr10:104128020G>A	ENST00000369983.3	+	22	2945	c.2685G>A	c.(2683-2685)cgG>cgA	p.R895R		NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN	golgi brefeldin A resistant guanine nucleotide exchange factor 1	895					COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		GCTTGGTTCGGGAGAACTATG	0.517000													35	12					0	0	0.000692331	0	0
MAPK1	5594	broad.mit.edu	37	22	22127173	22127173	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr22:22127173G>A	ENST00000215832.6	-	7	1143	c.955C>T	c.(955-957)Ccg>Tcg	p.P319S	MAPK1_ENST00000398822.3_Missense_Mutation_p.P319S|MAPK1_ENST00000544786.1_Missense_Mutation_p.P275S	NM_002745.4	NP_002736.3	P28482	MK01_HUMAN	mitogen-activated protein kinase 1	319					activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle|epidermal growth factor receptor signaling pathway|ERK1 and ERK2 cascade|induction of apoptosis|innate immune response|insulin receptor signaling pathway|interspecies interaction between organisms|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|Ras protein signal transduction|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription, DNA-dependent	cytosol|nucleoplasm	ATP binding|DNA binding|MAP kinase activity|phosphatase binding|RNA polymerase II carboxy-terminal domain kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Colorectal(54;0.105)	all_lung(157;3.89e-05)		READ - Rectum adenocarcinoma(21;0.0689)	Arsenic trioxide(DB01169)	TCGTCACTCGGGTCGTAATAC	0.478000													25	66					0	0	0.000878237	0	0
CLPS	1208	broad.mit.edu	37	6	35765063	35765063	+	Translation_Start_Site	SNP	C	C	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr6:35765063C>T	ENST00000259938.2	-	1	25	c.3G>A	c.(1-3)atG>atA	p.M1I		NM_001832.3	NP_001823.1	P04118	COL_HUMAN	colipase, pancreatic	1					lipid catabolic process|lipid digestion|retinoid metabolic process|steroid metabolic process	extracellular region				large_intestine(2)|lung(2)|prostate(1)	5						GGATCTTCTCCATGGTGAGTG	0.602000													29	68					0	0	0.00127121	0	0
LAD1	3898	broad.mit.edu	37	1	201356012	201356012	+	Silent	SNP	C	C	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr1:201356012C>T	ENST00000391967.2	-	3	778	c.477G>A	c.(475-477)gaG>gaA	p.E159E	LAD1_ENST00000367313.3_Silent_p.E173E	NM_005558.3	NP_005549.2	O00515	LAD1_HUMAN	ladinin 1	159						basement membrane	structural molecule activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|prostate(2)|skin(2)	19						CCACCAAGCTCTCCTCCTCCA	0.587000													51	35					0	0	0.000781405	0	0
IL1RAPL2	26280	broad.mit.edu	37	X	105011256	105011256	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chrX:105011256G>A	ENST00000372582.1	+	11	2419	c.1663G>A	c.(1663-1665)Gaa>Aaa	p.E555K	IL1RAPL2_ENST00000344799.4_Missense_Mutation_p.E555K|IL1RAPL2_ENST00000538500.1_Missense_Mutation_p.E160K	NM_017416.1	NP_059112.1	Q9NP60	IRPL2_HUMAN	interleukin 1 receptor accessory protein-like 2	555	TIR.				central nervous system development|innate immune response	integral to membrane	interleukin-1, Type II, blocking receptor activity			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						CTTAGTATATGAAATGCCCAT	0.423000													32	5					0	0	0.00178596	0	0
GPR37L1	9283	broad.mit.edu	37	1	202096948	202096948	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr1:202096948C>T	ENST00000367282.4	+	2	816	c.710C>T	c.(709-711)cCc>cTc	p.P237L		NM_004767.3	NP_004758.3	O60883	ETBR2_HUMAN	G protein-coupled receptor 37 like 1	237						integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)	18						AGCACCCTGCCCAAGGTGAGG	0.632000													41	23					0	0	0.00170553	0	0
DPT	1805	broad.mit.edu	37	1	168698205	168698205	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr1:168698205C>T	ENST00000367817.3	-	1	297	c.208G>A	c.(208-210)Gac>Aac	p.D70N		NM_001937.4	NP_001928.2	Q07507	DERM_HUMAN	dermatopontin	70	2 X 53-55 AA tandem repeats.|3 X 6 AA repeats of D-R-[EQ]-W-[NQK]- [FY].				cell adhesion	extracellular space|proteinaceous extracellular matrix				kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)	12	all_hematologic(923;0.208)					CATTGTCTGTCAGAACCTTCC	0.582000													14	32					0	0	0.000308642	0	0
PDE2A	5138	broad.mit.edu	37	11	72297142	72297142	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr11:72297142T>G	ENST00000334456.5	-	14	1399	c.1154A>C	c.(1153-1155)aAg>aCg	p.K385T	PDE2A_ENST00000376450.3_Missense_Mutation_p.K129T|RP11-169D4.2_ENST00000545254.1_RNA|PDE2A_ENST00000544570.1_Missense_Mutation_p.K378T|PDE2A_ENST00000444035.2_Missense_Mutation_p.K376T|PDE2A_ENST00000418754.2_Missense_Mutation_p.K270T|PDE2A_ENST00000540345.1_Missense_Mutation_p.K376T	NM_002599.4	NP_002590.1	O00408	PDE2A_HUMAN	phosphodiesterase 2A, cGMP-stimulated	385					platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity|metal ion binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	36			BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		Sildenafil(DB00203)|Sulindac(DB00605)	TTTCTGTTCCTTCTGGAAGGC	0.597000											OREG0021196	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	46	57					0	0	0.000781405	0	0
BBS12	166379	broad.mit.edu	37	4	123664480	123664480	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr4:123664480C>T	ENST00000542236.1	+	3	1814	c.1433C>T	c.(1432-1434)cCt>cTt	p.P478L	BBS12_ENST00000314218.3_Missense_Mutation_p.P478L	NM_001178007.1	NP_001171478.1	Q6ZW61	BBS12_HUMAN	Bardet-Biedl syndrome 12	478					cellular protein metabolic process	cilium	ATP binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|prostate(4)	21						AGAAGCAGCCCTTTGGATGTT	0.473000									Bardet-Biedl syndrome				28	26					0	0	0.001512	0	0
MRVI1	10335	broad.mit.edu	37	11	10615060	10615060	+	Silent	SNP	G	G	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr11:10615060G>A	ENST00000547195.1	-	16	2381	c.1881C>T	c.(1879-1881)tcC>tcT	p.S627S	MRVI1-AS1_ENST00000525578.1_RNA|MRVI1_ENST00000552103.1_Silent_p.S627S|MRVI1_ENST00000421747.1_Silent_p.S709S|MRVI1_ENST00000558540.1_Silent_p.S403S|MRVI1_ENST00000424001.1_Silent_p.S403S|MRVI1_ENST00000436272.1_Silent_p.S691S|MRVI1-AS1_ENST00000529829.1_RNA|MRVI1_ENST00000534266.2_Silent_p.S403S|LYVE1_ENST00000531706.1_Intron|MRVI1_ENST00000545852.1_Silent_p.S403S|MRVI1_ENST00000541483.1_Silent_p.S512S|MRVI1_ENST00000531107.1_Silent_p.S710S|MRVI1_ENST00000423302.2_Silent_p.S718S|MRVI1_ENST00000527509.2_Silent_p.S627S|MRVI1-AS1_ENST00000529979.1_RNA	NM_001100163.2|NM_001206881.1	NP_001093633.1|NP_001193810.1	Q9Y6F6	MRVI1_HUMAN	murine retrovirus integration site 1 homolog	691					platelet activation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)	22				all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)		AGGAGGGAATGGATGATGAGC	0.517000													12	20					0	0	0.000219431	0	0
HMOX2	3163	broad.mit.edu	37	16	4556932	4556932	+	Silent	SNP	C	C	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr16:4556932C>T	ENST00000570646.1	+	3	728	c.123C>T	c.(121-123)acC>acT	p.T41T	HMOX2_ENST00000575120.1_Silent_p.T12T|HMOX2_ENST00000458134.3_Silent_p.T41T|HMOX2_ENST00000406590.2_Silent_p.T41T|HMOX2_ENST00000398595.3_Silent_p.T41T|HMOX2_ENST00000414777.1_Silent_p.T41T|HMOX2_ENST00000219700.6_Silent_p.T41T	NM_002134.3	NP_002125.3	P30519	HMOX2_HUMAN	heme oxygenase (decycling) 2	41					cellular iron ion homeostasis|heme catabolic process|heme oxidation|response to hypoxia|transmembrane transport	endoplasmic reticulum membrane|microsome|plasma membrane	electron carrier activity|heme oxygenase (decyclizing) activity|metal ion binding|protein binding			endometrium(1)|large_intestine(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	8					NADH(DB00157)	AGGAAGGGACCAAGGAAGCAC	0.512000											OREG0023582	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	75	51					0	0	0.000781405	0	0
HK3	3101	broad.mit.edu	37	5	176308797	176308797	+	Silent	SNP	G	G	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr5:176308797G>A	ENST00000292432.5	-	17	2380	c.2289C>T	c.(2287-2289)atC>atT	p.I763I		NM_002115.2	NP_002106.2	P52790	HXK3_HUMAN	hexokinase 3 (white cell)	763	Catalytic.				glucose transport|glycolysis|transmembrane transport	cytosol|membrane	ATP binding|glucokinase activity			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AATGTAAAAGGATGTGGCGGA	0.552000													20	29					0	0	0.00121646	0	0
RRP7BP	91695	broad.mit.edu	37	22	42970745	42970745	+	RNA	SNP	G	G	A	rs137060	by1000genomes	TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr22:42970745G>A	ENST00000357802.2	-	0	863																											CGGCTCAGTAGGGTCGGAATT	0.642000													4	14					0	0	0.00024832	0	0
C4orf33	132321	broad.mit.edu	37	4	130032906	130032906	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr4:130032906C>T	ENST00000281146.4	+	6	1281	c.560C>T	c.(559-561)cCg>cTg	p.P187L	C4orf33_ENST00000425929.1_Missense_Mutation_p.P187L	NM_173487.2	NP_775758.2	Q8N1A6	CD033_HUMAN	chromosome 4 open reading frame 33	187										endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	10						TGGAAACAACCGGAATCAGAC	0.338000													8	12					0	0	0.000673444	0	0
TRPV4	59341	broad.mit.edu	37	12	110236480	110236480	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr12:110236480G>A	ENST00000418703.2	-	5	1185	c.1091C>T	c.(1090-1092)gCc>gTc	p.A364V	TRPV4_ENST00000537083.1_Missense_Mutation_p.A364V|TRPV4_ENST00000261740.2_Missense_Mutation_p.A364V|TRPV4_ENST00000536838.1_Missense_Mutation_p.A330V|TRPV4_ENST00000392719.2_Missense_Mutation_p.A317V|TRPV4_ENST00000346520.2_Missense_Mutation_p.A364V|TRPV4_ENST00000544971.1_Missense_Mutation_p.A317V|TRPV4_ENST00000541794.1_Missense_Mutation_p.A317V	NM_001177431.1	NP_001170902.1	Q9HBA0	TRPV4_HUMAN	transient receptor potential cation channel, subfamily V, member 4	364					actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus	cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane	actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						GTTGAGCACGGCCTCCAGGTT	0.592000													18	16					0	0	0.000375601	0	0
SLC6A17	388662	broad.mit.edu	37	1	110735292	110735292	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr1:110735292C>T	ENST00000331565.4	+	8	1756	c.1271C>T	c.(1270-1272)cCc>cTc	p.P424L	SLC6A17_ENST00000465159.1_3'UTR	NM_001010898.2	NP_001010898.1	Q9H1V8	S6A17_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 17	424					alanine transport|glycine transport|leucine transport|proline transport	cell junction|integral to plasma membrane|synaptic vesicle membrane	neurotransmitter:sodium symporter activity			breast(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37		all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151)		GGCCTTGACCCCTGCCTTCTG	0.607000													9	15					0	0	0.000442599	0	0
C2orf78	388960	broad.mit.edu	37	2	74042329	74042329	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr2:74042329C>T	ENST00000409561.1	+	3	1100	c.979C>T	c.(979-981)Cca>Tca	p.P327S		NM_001080474.1	NP_001073943.1	A6NCI8	CB078_HUMAN	chromosome 2 open reading frame 78	327										cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1)	34						TGAGAGTAACCCATCACCTGA	0.458000													27	19					0	0	0.00178596	0	0
EPHA6	285220	broad.mit.edu	37	3	97439161	97439161	+	Silent	SNP	C	C	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr3:97439161C>T	ENST00000389672.5	+	15	2879	c.2841C>T	c.(2839-2841)ttC>ttT	p.F947F		NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	852						integral to plasma membrane	ATP binding|ephrin receptor activity	p.F853F(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						ACAGAAAATTCTCCTCAGCAA	0.458000													31	28					0	0	0.00209593	0	0
HMGCL	3155	broad.mit.edu	37	1	24143197	24143197	+	Silent	SNP	G	G	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr1:24143197G>A	ENST00000374483.4	-	5	912	c.241C>T	c.(241-243)Ctg>Ttg	p.L81L	HMGCL_ENST00000509389.1_5'UTR|HMGCL_ENST00000436439.2_Silent_p.L106L|HMGCL_ENST00000374490.3_Silent_p.L106L			P35914	HMGCL_HUMAN	3-hydroxymethyl-3-methylglutaryl-CoA lyase	106					acetoacetic acid biosynthetic process|ketone body biosynthetic process	mitochondrial matrix	hydroxymethylglutaryl-CoA lyase activity|metal ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	12		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.0044)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.38e-24)|Colorectal(126;5.58e-08)|COAD - Colon adenocarcinoma(152;3.12e-06)|GBM - Glioblastoma multiforme(114;4.9e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000982)|KIRC - Kidney renal clear cell carcinoma(1967;0.0034)|STAD - Stomach adenocarcinoma(196;0.0128)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0856)|LUSC - Lung squamous cell carcinoma(448;0.188)		TTTGGGGTCAGGACTGGGTAG	0.502000													44	67					0	0	0.000781405	0	0
PCDHGC4	56098	broad.mit.edu	37	5	140866970	140866970	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr5:140866970C>A	ENST00000306593.1	+	1	2230	c.2230C>A	c.(2230-2232)Ccc>Acc	p.P744T	PCDHGA11_ENST00000398587.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000518882.1_Intron	NM_018928.2|NM_032406.1	NP_061751.1|NP_115782.1														NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(13)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	42			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGAGGGGCTTCCCCCTTCCAA	0.557000													14	24					1.5842e-08	7.00174e-08	0.00185496	1	0
LPA	4018	broad.mit.edu	37	6	161071386	161071386	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr6:161071386C>T	ENST00000447678.1	-	3	313	c.193G>A	c.(193-195)Gaa>Aaa	p.E65K	LPA_ENST00000316300.5_Missense_Mutation_p.E65K	NM_005577.2	NP_005568.2	P08519	APOA_HUMAN	lipoprotein, Lp(a)	2573	Kringle 1.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	GGGTAGTTTTCTGTGGTCCTA	0.418000													46	11					0	0	0.000781405	0	0
PRAMEF11	440560	broad.mit.edu	37	1	12887485	12887485	+	Silent	SNP	G	G	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr1:12887485G>A	ENST00000535591.1	-	3	567	c.372C>T	c.(370-372)ctC>ctT	p.L124L		NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	124										NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						GGAGGCAGGTGAGGTATTCAT	0.473000													91	148					0	0	0.000781405	0	0
NRAS	4893	broad.mit.edu	37	1	115256530	115256530	+	Missense_Mutation	SNP	G	G	T	rs121913254		TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr1:115256530G>T	ENST00000369535.4	-	3	434	c.181C>A	c.(181-183)Caa>Aaa	p.Q61K		NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	61			Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	Golgi membrane|plasma membrane	GTP binding|GTPase activity	p.Q61K(595)|p.Q61E(9)|p.Q61L(3)|p.Q61R(2)|p.G60>?(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TACTCTTCTTGTCCAGCTGTA	0.458000	Q61K(CHP212_AUTONOMIC_GANGLIA)|Q61K(HCC15_LUNG)|Q61K(HS936T_SKIN)|Q61K(HS944T_SKIN)|Q61K(HT1080_SOFT_TISSUE)|Q61K(HUT78_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(M07E_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(NCIH1299_LUNG)|Q61K(NCIH2087_LUNG)|Q61K(OCILY19_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(SKNAS_AUTONOMIC_GANGLIA)|Q61K(SKNSH_AUTONOMIC_GANGLIA)|Q61K(TYKNU_OVARY)	50	Mis		"""melanoma, MM, AML, thyroid"""				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)			31	72					6.84511e-11	3.03551e-10	0.00058488	1	0
IFT172	26160	broad.mit.edu	37	2	27684212	27684212	+	Missense_Mutation	SNP	C	C	T	rs148237432		TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr2:27684212C>T	ENST00000260570.3	-	22	2469	c.2366G>A	c.(2365-2367)cGa>cAa	p.R789Q		NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN	intraflagellar transport 172 homolog (Chlamydomonas)	789					cilium assembly	cilium	binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					CAGTTCCTCTCGGGTCAGCAC	0.567000													29	26					0	0	0.001512	0	0
KIF21A	55605	broad.mit.edu	37	12	39752107	39752107	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr12:39752107T>A	ENST00000395670.3	-	8	1507	c.1088A>T	c.(1087-1089)aAa>aTa	p.K363I	KIF21A_ENST00000544797.2_Missense_Mutation_p.K363I|KIF21A_ENST00000541463.2_Missense_Mutation_p.K363I|KIF21A_ENST00000361418.5_Missense_Mutation_p.K363I|KIF21A_ENST00000361961.3_Missense_Mutation_p.K363I			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	363					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				ATTGGCGTATTTCAGGGTGTT	0.398000													36	82					0	0	0.000692331	0	0
ZPBP2	124626	broad.mit.edu	37	17	38031536	38031536	+	Silent	SNP	G	G	A	rs35369677	byFrequency	TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr17:38031536G>A	ENST00000377940.3	+	6	811	c.672G>A	c.(670-672)cgG>cgA	p.R224R	ZPBP2_ENST00000348931.4_Silent_p.R246R|ZPBP2_ENST00000584588.1_Silent_p.R173R	NM_198844.2	NP_942141.2	Q6X784	ZPBP2_HUMAN	zona pellucida binding protein 2	246					binding of sperm to zona pellucida	extracellular region				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)			ACTTTTTTCGGAGCCAAGCAT	0.373000													19	42					0	0	0.00188189	0	0
SIGLEC5	8778	broad.mit.edu	37	19	52131193	52131193	+	Silent	SNP	C	C	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr19:52131193C>T	ENST00000222107.4	-	5	1029	c.891G>A	c.(889-891)ggG>ggA	p.G297G	SIGLEC5_ENST00000534261.2_Silent_p.G297G|SIGLEC5_ENST00000599649.1_Silent_p.G297G|SIGLEC5_ENST00000570106.2_Silent_p.G297G|SIGLEC5_ENST00000429354.3_Silent_p.G297G			O15389	SIGL5_HUMAN	sialic acid binding Ig-like lectin 5	297	Ig-like C2-type 2.				cell adhesion	integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(9)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		all_neural(266;0.0726)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218)		GCTCCAAGATCCCGGTATTGG	0.602000													30	41					0	0	0.000692331	0	0
LRRC71	149499	broad.mit.edu	37	1	156901819	156901819	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr1:156901819C>T	ENST00000337428.7	+	13	1595	c.1441_splice	c.e13+1	p.R481_splice	LRRC71_ENST00000490146.1_3'UTR	NM_144702.2	NP_653303.2	Q8N4P6	LRC71_HUMAN	leucine rich repeat containing 71	481										endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|stomach(1)	12						CAACCTCATCCGTATGTCTGC	0.582000													3	1					0	0	0.000602214	0	0
UNC79	57578	broad.mit.edu	37	14	94053205	94053205	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr14:94053205G>A	ENST00000553484.1	+	22	3137	c.2983G>A	c.(2983-2985)Gat>Aat	p.D995N	UNC79_ENST00000256339.4_Missense_Mutation_p.D818N|UNC79_ENST00000393151.2_Missense_Mutation_p.D995N|UNC79_ENST00000555664.1_Missense_Mutation_p.D995N			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	995						integral to membrane				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						TGCCAGAAAAGATCACCCTCA	0.368000													55	70					0	0	0.000781405	0	0
TTN	7273	broad.mit.edu	37	2	179539817	179539817	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr2:179539817C>T	ENST00000589042.1	-	150	34785	c.34561G>A	c.(34561-34563)Gaa>Aaa	p.E11521K	TTN_ENST00000591111.1_Missense_Mutation_p.E11147K|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.E10220K|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000431752.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	11253	Glu-rich.|Pro-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CGTTTTTCTTCCACCTTCTTA	0.353000													7	22					0	0	0.000274275	0	0
ARHGEF7	8874	broad.mit.edu	37	13	111926203	111926203	+	Silent	SNP	C	C	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr13:111926203C>T	ENST00000375741.2	+	11	1429	c.1179C>T	c.(1177-1179)agC>agT	p.S393S	ARHGEF7_ENST00000478679.1_Silent_p.S137S|ARHGEF7_ENST00000218789.5_Silent_p.S215S|ARHGEF7_ENST00000483189.1_3'UTR|ARHGEF7_ENST00000370623.3_Silent_p.S300S|ARHGEF7_ENST00000375723.1_Silent_p.S215S|ARHGEF7_ENST00000375737.5_Silent_p.S290S|ARHGEF7_ENST00000317133.5_Silent_p.S372S|ARHGEF7_ENST00000544132.1_Intron|ARHGEF7_ENST00000426073.2_Silent_p.S215S|ARHGEF7_ENST00000375736.4_Silent_p.S215S|ARHGEF7_ENST00000375739.2_Silent_p.S343S	NM_001113511.1|NM_145735.2	NP_001106983.1|NP_663788.1	Q14155	ARHG7_HUMAN	Rho guanine nucleotide exchange factor (GEF) 7	393	DH.				apoptosis|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	protein binding|Rho guanyl-nucleotide exchange factor activity			breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	41	all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.188)			GTGCCAGCAGCCCTGGGATTC	0.557000													13	48					0	0	0.000422831	0	0
ZSWIM2	151112	broad.mit.edu	37	2	187703747	187703747	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr2:187703747C>T	ENST00000295131.2	-	4	472	c.433G>A	c.(433-435)Gat>Aat	p.D145N		NM_182521.2	NP_872327.2	Q8NEG5	ZSWM2_HUMAN	zinc finger, SWIM-type containing 2	145					apoptosis		zinc ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			GAGCAGATATCCTCTGAATCA	0.358000													40	39					0	0	0.000781405	0	0
PPP1R1B	84152	broad.mit.edu	37	17	37791980	37791980	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr17:37791980G>A	ENST00000254079.4	+	6	1034		c.e6+1		PPP1R1B_ENST00000394267.2_Splice_Site|PPP1R1B_ENST00000580825.1_Splice_Site|PPP1R1B_ENST00000579000.1_Splice_Site|PPP1R1B_ENST00000394265.1_Splice_Site	NM_032192.3	NP_115568.2	Q9UD71	PPR1B_HUMAN	protein phosphatase 1, regulatory (inhibitor) subunit 1B						signal transduction	cytosol	protein kinase inhibitor activity|protein phosphatase inhibitor activity			kidney(1)|large_intestine(1)|liver(1)|lung(2)	5	Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;1.04e-44)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			GCACTAAGTGGTAAGGCTTGG	0.637000													22	22					0	0	0.000586117	0	0
CD300A	11314	broad.mit.edu	37	17	72469892	72469892	+	Silent	SNP	C	C	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr17:72469892C>T	ENST00000360141.3	+	2	546	c.258C>T	c.(256-258)ttC>ttT	p.F86F	CD300A_ENST00000310828.5_Intron|CD300A_ENST00000577511.1_5'UTR|CD300A_ENST00000392625.3_Intron|CD300A_ENST00000361933.3_Intron	NM_001256841.1|NM_007261.3	NP_001243770.1|NP_009192.2	Q9UGN4	CLM8_HUMAN	CD300a molecule	86	Ig-like V-type.				cell adhesion	integral to membrane|plasma membrane	receptor activity			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(4)|urinary_tract(1)	16						ACCTCAGCTTCACAGTGACCC	0.532000													17	22					0	0	0.00074312	0	0
POU6F2	11281	broad.mit.edu	37	7	39243858	39243858	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr7:39243858C>T	ENST00000518318.2	+	3	257	c.215C>T	c.(214-216)tCa>tTa	p.S72L	POU6F2_ENST00000559001.1_Missense_Mutation_p.S64L|POU6F2_ENST00000517348.1_3'UTR|POU6F2_ENST00000403058.1_Missense_Mutation_p.S72L			P78424	PO6F2_HUMAN	POU class 6 homeobox 2	72					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			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						CCAGCATTATCAGACCCAGGC	0.493000													13	11					0	0	0.000219431	0	0
KIAA1429	25962	broad.mit.edu	37	8	95502190	95502190	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr8:95502190G>A	ENST00000297591.5	-	23	5336	c.5261C>T	c.(5260-5262)cCa>cTa	p.P1754L	KIAA1429_ENST00000437199.1_3'UTR	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	1754					mRNA processing|RNA splicing	nucleus				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)			GGGTCGTAATGGTGGAAGAGG	0.423000													34	33					0	0	0.00170553	0	0
MEFV	4210	broad.mit.edu	37	16	3298935	3298935	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr16:3298935C>T	ENST00000219596.1	-	4	1369	c.1330G>A	c.(1330-1332)Ggg>Agg	p.G444R	MEFV_ENST00000536379.1_Missense_Mutation_p.G233R|MEFV_ENST00000541159.1_Missense_Mutation_p.G233R|MEFV_ENST00000339854.4_Missense_Mutation_p.G264R	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	444					inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding			NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50					Colchicine(DB01394)	TTCTCCTCCCCATAGGATCGC	0.532000													42	99					0	0	0.000781405	0	0
FGFR4	2264	broad.mit.edu	37	5	176519776	176519776	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr5:176519776G>A	ENST00000292408.4	+	8	1293	c.1048G>A	c.(1048-1050)Gtg>Atg	p.V350M	FGFR4_ENST00000292410.3_Missense_Mutation_p.V350M|FGFR4_ENST00000502906.1_Missense_Mutation_p.V350M|FGFR4_ENST00000393648.2_Missense_Mutation_p.V350M|FGFR4_ENST00000393637.1_Missense_Mutation_p.V350M	NM_002011.3|NM_213647.1	NP_002002.3|NP_998812.1	P22455	FGFR4_HUMAN	fibroblast growth factor receptor 4	350					insulin receptor signaling pathway|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	34	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Palifermin(DB00039)	CTGGCTCACGGTGCTGCCAGG	0.647000										TSP Lung(9;0.080)			10	19					0	0	0.000978159	0	0
DNMT3B	1789	broad.mit.edu	37	20	31375128	31375128	+	Silent	SNP	G	G	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr20:31375128G>A	ENST00000328111.2	+	6	846	c.525G>A	c.(523-525)gaG>gaA	p.E175E	DNMT3B_ENST00000344505.4_Silent_p.E175E|DNMT3B_ENST00000201963.3_Silent_p.E187E|DNMT3B_ENST00000375623.4_Silent_p.E133E|DNMT3B_ENST00000456297.2_Silent_p.E99E|DNMT3B_ENST00000353855.2_Silent_p.E175E|DNMT3B_ENST00000348286.2_Silent_p.E175E|DNMT3B_ENST00000443239.3_Silent_p.E133E	NM_006892.3	NP_008823.1	Q9UBC3	DNM3B_HUMAN	DNA (cytosine-5-)-methyltransferase 3 beta	175	Interaction with DNMT1 and DNMT3A.				negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation		metal ion binding|protein binding|transcription corepressor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						ACGACACAGAGGACACACATG	0.657000													22	42					0	0	0.000375601	0	0
ATG9A	79065	broad.mit.edu	37	2	220088413	220088413	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr2:220088413G>A	ENST00000409618.1	-	10	1932	c.1493C>T	c.(1492-1494)gCc>gTc	p.A498V	ATG9A_ENST00000409422.1_Missense_Mutation_p.A437V|ATG9A_ENST00000361242.4_Missense_Mutation_p.A498V|ATG9A_ENST00000396761.2_Missense_Mutation_p.A498V			Q7Z3C6	ATG9A_HUMAN	autophagy related 9A	498					autophagic vacuole assembly|protein transport	autophagic vacuole membrane|cytoplasmic vesicle|Golgi apparatus|integral to membrane|late endosome membrane				endometrium(2)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(1)	13		Renal(207;0.0474)		Epithelial(149;1.37e-06)|all cancers(144;0.000222)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AATCTCCAGGGCCCGTGGGCG	0.537000													24	21					0	0	0.00047179	0	0
KRT6B	3854	broad.mit.edu	37	12	52845466	52845466	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr12:52845466C>T	ENST00000252252.3	-	1	444	c.397G>A	c.(397-399)Gga>Aga	p.G133R		NM_005555.3	NP_005546.2	P04259	K2C6B_HUMAN	keratin 6B	133	Head.				ectoderm development	keratin filament	structural constituent of cytoskeleton			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(19)|ovary(4)|prostate(2)	40				BRCA - Breast invasive adenocarcinoma(357;0.083)		TGGATGCCTCCAGGGGGGCAC	0.637000													8	31					0	0	0.000442599	0	0
PARP8	79668	broad.mit.edu	37	5	50090740	50090740	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr5:50090740C>T	ENST00000281631.5	+	12	1075	c.917C>T	c.(916-918)tCt>tTt	p.S306F	PARP8_ENST00000505697.2_Missense_Mutation_p.S306F|PARP8_ENST00000514067.2_Missense_Mutation_p.S306F|PARP8_ENST00000505554.1_Missense_Mutation_p.S285F|PARP8_ENST00000503750.2_Missense_Mutation_p.S306F|PARP8_ENST00000511363.2_3'UTR|PARP8_ENST00000514342.2_Missense_Mutation_p.S59F	NM_001178056.1|NM_024615.3	NP_001171527.1|NP_078891.2	Q8N3A8	PARP8_HUMAN	poly (ADP-ribose) polymerase family, member 8	306						intracellular	NAD+ ADP-ribosyltransferase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Lung NSC(810;0.0305)|Breast(144;0.222)				AAACTGAAATCTGAGCAGGAC	0.468000													17	18					0	0	0.000958276	0	0
LMO7	4008	broad.mit.edu	37	13	76427445	76427445	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr13:76427445G>A	ENST00000357063.3	+	29	5998	c.4738G>A	c.(4738-4740)Ggt>Agt	p.G1580S	LMO7_ENST00000526202.1_Missense_Mutation_p.G1172S|LMO7_ENST00000341547.4_Missense_Mutation_p.G1246S|LMO7_ENST00000321797.8_Missense_Mutation_p.G1295S|LMO7_ENST00000377534.3_Missense_Mutation_p.G1580S|LMO7_ENST00000465261.2_Missense_Mutation_p.G1295S			Q8WWI1	LMO7_HUMAN	LIM domain 7	1580						cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		CTCCACCACAGGTGTGGCCAC	0.612000													4	13					0	0	0.00024832	0	0
SCARB1	949	broad.mit.edu	37	12	125298850	125298850	+	Silent	SNP	C	C	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr12:125298850C>T	ENST00000339570.5	-	4	724	c.528G>A	c.(526-528)gtG>gtA	p.V176V	SCARB1_ENST00000544327.1_Silent_p.V122V|SCARB1_ENST00000376788.1_Silent_p.V76V|SCARB1_ENST00000546215.1_Silent_p.V176V|SCARB1_ENST00000261693.6_Silent_p.V176V|SCARB1_ENST00000541205.1_Silent_p.V135V|SCARB1_ENST00000540495.1_Silent_p.V139V|SCARB1_ENST00000535005.1_5'UTR|SCARB1_ENST00000415380.2_Silent_p.V176V	NM_001082959.1	NP_001076428.1	Q8WTV0	SCRB1_HUMAN	scavenger receptor class B, member 1	176					adhesion to symbiont|cell adhesion|cholesterol efflux|cholesterol homeostasis|cholesterol import|detection of lipopolysaccharide|high-density lipoprotein particle clearance|high-density lipoprotein particle remodeling|lipopolysaccharide transport|lipoprotein metabolic process|positive regulation of cholesterol storage|positive regulation of endothelial cell migration|positive regulation of nitric-oxide synthase activity|recognition of apoptotic cell|reverse cholesterol transport|triglyceride homeostasis|wound healing	caveola	1-phosphatidylinositol binding|apolipoprotein A-I binding|high-density lipoprotein particle receptor activity|lipopolysaccharide receptor activity|low-density lipoprotein particle binding|phosphatidylserine binding|transporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|prostate(1)	17	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000116)|Epithelial(86;0.000415)|all cancers(50;0.00395)	Phosphatidylserine(DB00144)	TGATCTCACCCACAGTGCGGT	0.522000													20	31					0	0	0.00152264	0	0
ZNF579	163033	broad.mit.edu	37	19	56090016	56090016	+	Silent	SNP	G	G	C			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr19:56090016G>C	ENST00000325421.4	-	2	1018	c.990C>G	c.(988-990)ccC>ccG	p.P330P		NM_152600.2	NP_689813.2	Q8NAF0	ZN579_HUMAN	zinc finger protein 579	330					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.106)		TGCCCGCCGCGGGCAGCGGGG	0.751000													11	13					0	0	0.000219431	0	0
MYH2	4620	broad.mit.edu	37	17	10436640	10436640	+	Silent	SNP	G	G	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr17:10436640G>A	ENST00000245503.5	-	21	2787	c.2403C>T	c.(2401-2403)ttC>ttT	p.F801F	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|MYH2_ENST00000397183.2_Silent_p.F801F|MYH2_ENST00000532183.1_Intron	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	801	IQ.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						CTCTTGCCAAGAACCCTCTGC	0.458000													19	27					0	0	0.00121646	0	0
OR4D9	390199	broad.mit.edu	37	11	59283128	59283128	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr11:59283128C>T	ENST00000329328.3	+	1	743	c.743C>T	c.(742-744)aCc>aTc	p.T248I		NM_001004711.1	NP_001004711.1	Q8NGE8	OR4D9_HUMAN	olfactory receptor, family 4, subfamily D, member 9	248					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|prostate(5)|upper_aerodigestive_tract(1)	26						ACCGTGGTGACCCTGCATTTC	0.557000													26	47					0	0	0.000720815	0	0
RFPL2	10739	broad.mit.edu	37	22	32587084	32587084	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr22:32587084G>A	ENST00000400236.3	-	5	1747	c.542C>T	c.(541-543)aCc>aTc	p.T181I	RFPL2_ENST00000248980.4_Missense_Mutation_p.T210I|RFPL2_ENST00000248983.4_Missense_Mutation_p.T181I|RFPL2_ENST00000489846.1_5'UTR|RFPL2_ENST00000400237.1_Missense_Mutation_p.T271I	NM_001098527.2	NP_001091997.2	O75678	RFPL2_HUMAN	ret finger protein-like 2	271	B30.2/SPRY.						zinc ion binding			endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	21						AAGCTCTGTGGTCAGCTGGAT	0.582000													34	16					0	0	0.0024448	0	0
MAN2B2	23324	broad.mit.edu	37	4	6588780	6588780	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr4:6588780T>A	ENST00000285599.3	+	4	485	c.449T>A	c.(448-450)gTt>gAt	p.V150D	MAN2B2_ENST00000504248.1_Missense_Mutation_p.V150D	NM_015274.1	NP_056089.1	Q9Y2E5	MA2B2_HUMAN	mannosidase, alpha, class 2B, member 2	150					mannose metabolic process	extracellular region	alpha-mannosidase activity|carbohydrate binding|zinc ion binding			breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	30						TCCTGGCACGTTGACCCGTTT	0.622000													12	22					0	0	0.000219431	0	0
GTF3C3	9330	broad.mit.edu	37	2	197654673	197654673	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr2:197654673T>A	ENST00000263956.3	-	5	746	c.657A>T	c.(655-657)gaA>gaT	p.E219D	GTF3C3_ENST00000409364.3_Missense_Mutation_p.E219D|GTF3C3_ENST00000470386.1_5'UTR	NM_012086.4	NP_036218.1	Q9Y5Q9	TF3C3_HUMAN	general transcription factor IIIC, polypeptide 3, 102kDa	219						transcription factor TFIIIC complex	DNA binding|protein binding			breast(4)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						GTCTAACCCATTCTTCTGTGT	0.348000													21	49					0	0	0.000586117	0	0
NPFF	8620	broad.mit.edu	37	12	53900651	53900651	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr12:53900651C>T	ENST00000267017.3	-	3	414	c.251G>A	c.(250-252)tGg>tAg	p.W84*	RP11-793H13.10_ENST00000591834.1_Silent_p.L461L	NM_003717.2	NP_003708.1	O15130	NPFF_HUMAN	neuropeptide FF-amide peptide precursor	84					neuropeptide signaling pathway|synaptic transmission	extracellular region|soluble fraction	neuropeptide hormone activity			haematopoietic_and_lymphoid_tissue(1)|prostate(1)|urinary_tract(1)	3						TTCATTCCTCCAGGATCCCTG	0.562000													28	49					0	0	0.00058488	0	0
STAB2	55576	broad.mit.edu	37	12	104126784	104126784	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr12:104126784G>A	ENST00000388887.2	+	51	5488	c.5283_splice	c.e51-1	p.D1762_splice		NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	1762	FAS1 6.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						TGTGTTTCAGGACTCAGGTTT	0.577000													10	15					0	0	0.00136819	0	0
GIF	2694	broad.mit.edu	37	11	59610057	59610057	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr11:59610057C>T	ENST00000541311.1	-	4	530		c.e4-1		GIF_ENST00000257248.2_Splice_Site			P27352	IF_HUMAN	gastric intrinsic factor (vitamin B synthesis)						cobalamin metabolic process|cobalamin transport|cobalt ion transport	apical plasma membrane|endosome|extracellular space|microvillus	cobalamin binding			large_intestine(4)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	17						GCGTTGGGGCCTCCGAAGGGG	0.517000													9	11					0	0	0.000274275	0	0
RNF10	9921	broad.mit.edu	37	12	121004729	121004729	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr12:121004729G>A	ENST00000325954.4	+	13	2448	c.1987G>A	c.(1987-1989)Ggc>Agc	p.G663S	RNF10_ENST00000413266.2_Missense_Mutation_p.G668S	NM_014868.4	NP_055683.3	Q8N5U6	RNF10_HUMAN	ring finger protein 10	663					negative regulation of Schwann cell proliferation|positive regulation of myelination|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|transcription regulatory region DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)	27	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CAGCACCGAGGGCCATGGGGC	0.498000													26	28					0	0	0.000720815	0	0
C8orf74	203076	broad.mit.edu	37	8	10557879	10557879	+	Silent	SNP	C	C	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr8:10557879C>T	ENST00000304519.5	+	4	812	c.783C>T	c.(781-783)gcC>gcT	p.A261A	RP1L1_ENST00000329335.3_Intron	NM_001040032.1	NP_001035121.1	Q6P047	CH074_HUMAN	chromosome 8 open reading frame 74	261										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	13				COAD - Colon adenocarcinoma(149;0.0811)		ACCTCAACGCCCCCACCCCTA	0.592000													9	25					0	0	0.000442599	0	0
KCNB1	3745	broad.mit.edu	37	20	47990378	47990378	+	Silent	SNP	G	G	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr20:47990378G>A	ENST00000371741.4	-	2	1885	c.1719C>T	c.(1717-1719)ccC>ccT	p.P573P		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	573					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			CTGTGCGAGTGGGCAGAGGGG	0.512000													24	61					0	0	0.000586117	0	0
KRT84	3890	broad.mit.edu	37	12	52777531	52777531	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr12:52777531G>A	ENST00000257951.3	-	2	664	c.598C>T	c.(598-600)Ctc>Ttc	p.L200F	RP3-416H24.4_ENST00000547174.1_RNA	NM_033045.3	NP_149034.2	Q9NSB2	KRT84_HUMAN	keratin 84	200	Coil 1A.|Rod.					keratin filament	structural constituent of epidermis			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(10)|skin(3)	27	all_hematologic(5;0.12)			BRCA - Breast invasive adenocarcinoma(357;0.189)		TGCTCTTGGAGGAAGCTCCAC	0.512000													21	16					0	0	0.00229938	0	0
FAM192A	80011	broad.mit.edu	37	16	57188296	57188296	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr16:57188296G>A	ENST00000309137.8	-	7	929	c.671C>T	c.(670-672)tCc>tTc	p.S224F	FAM192A_ENST00000564108.1_Missense_Mutation_p.S224F|FAM192A_ENST00000569266.1_Missense_Mutation_p.S224F|FAM192A_ENST00000567439.1_Missense_Mutation_p.S224F|FAM192A_ENST00000566077.1_Missense_Mutation_p.S147F|FAM192A_ENST00000389447.5_Missense_Mutation_p.S224F	NM_024946.2	NP_079222.1	Q9GZU8	F192A_HUMAN	family with sequence similarity 192, member A	224						nucleus				endometrium(2)|large_intestine(3)|lung(4)|prostate(2)	11						GCTGGACTCGGAGTCGCTGCT	0.597000													11	11					0	0	0.000978159	0	0
BCL2L11	10018	broad.mit.edu	37	2	111881335	111881335	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr2:111881335C>T	ENST00000393256.3	+	2	286	c.13C>T	c.(13-15)Cct>Tct	p.P5S	BCL2L11_ENST00000393253.2_Missense_Mutation_p.P5S|BCL2L11_ENST00000405953.1_Missense_Mutation_p.P5S|BCL2L11_ENST00000357757.2_Missense_Mutation_p.P5S|BCL2L11_ENST00000337565.5_Missense_Mutation_p.P5S|BCL2L11_ENST00000308659.8_Missense_Mutation_p.P5S	NM_001204106.1|NM_006538.4|NM_138621.4|NM_138627.3	NP_001191035.1|NP_006529.1|NP_619527.1|NP_619533.1	O43521	B2L11_HUMAN	BCL2-like 11 (apoptosis facilitator)	5					activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|nerve growth factor receptor signaling pathway|positive regulation of protein homooligomerization|positive regulation of release of cytochrome c from mitochondria	cytosol|endomembrane system|mitochondrial outer membrane|plasma membrane	protein binding			endometrium(4)|large_intestine(3)|lung(2)|prostate(2)	11						GGCAAAGCAACCTTCTGATGT	0.423000													31	32					0	0	0.00058488	0	0
RAF1	5894	broad.mit.edu	37	3	12632392	12632392	+	Silent	SNP	C	C	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr3:12632392C>T	ENST00000251849.4	-	12	1714	c.1275G>A	c.(1273-1275)gaG>gaA	p.E425E	RAF1_ENST00000542177.1_Silent_p.E344E|RAF1_ENST00000534997.1_Silent_p.E210E|RAF1_ENST00000442415.2_Silent_p.E445E	NM_002880.3	NP_002871.1	P04049	RAF1_HUMAN	v-raf-1 murine leukemia viral oncogene homolog 1	425	Protein kinase.				activation of MAPKK activity|apoptosis|axon guidance|cell proliferation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of protein complex assembly|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of peptidyl-serine phosphorylation|Ras protein signal transduction|synaptic transmission	cytosol|mitochondrial outer membrane|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|receptor signaling protein activity		ESRP1/RAF1(4)|RAF1/DAZL(2)|SRGAP3/RAF1(6)	biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	32					Sorafenib(DB00398)	GGCTGCTGCCCTCGCACCACT	0.537000			T	SRGAP3	pilocytic astrocytoma				Noonan syndrome				17	65					0	0	0.00121646	0	0
PHLPP2	23035	broad.mit.edu	37	16	71748507	71748507	+	Silent	SNP	G	G	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr16:71748507G>A	ENST00000393524.2	-	1	925	c.192C>T	c.(190-192)ctC>ctT	p.L64L	PHLPP2_ENST00000360429.3_Silent_p.L64L|PHLPP2_ENST00000356272.3_Silent_p.L64L|PHLPP2_ENST00000568954.1_Silent_p.L64L|PHLPP2_ENST00000567016.1_Silent_p.L99L			Q6ZVD8	PHLP2_HUMAN	PH domain and leucine rich repeat protein phosphatase 2	64						cytoplasm|membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						TGCAAAGGACGAGATGTAAGT	0.493000													16	18					0	0	0.000566183	0	0
PRAMEF4	400735	broad.mit.edu	37	1	12942930	12942930	+	Missense_Mutation	SNP	G	G	A	rs76269416		TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr1:12942930G>A	ENST00000235349.5	-	2	356	c.286C>T	c.(286-288)Cgt>Tgt	p.R96C		NM_001009611.2	NP_001009611.1	O60810	PRAM4_HUMAN	PRAME family member 4	96										breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(3)|skin(1)	24	Ovarian(185;0.249)	Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CACCTGGGACGAACCCCTAGG	0.622000													10	32					0	0	0.000673444	0	0
ZCCHC18	644353	broad.mit.edu	37	X	103358981	103358981	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chrX:103358981C>T	ENST00000537356.2	+	1	179	c.179C>T	c.(178-180)aCc>aTc	p.T60I	SLC25A53_ENST00000357421.4_Intron|ZCCHC18_ENST00000422784.1_Intron	NM_001143978.1	NP_001137450.1	P0CG32	ZCC18_HUMAN	zinc finger, CCHC domain containing 18	60							nucleic acid binding|zinc ion binding										GGGAAAGAAACCTTTGAAAAC	0.488000													5	0					0	0	0.000602214	0	0
MYH2	4620	broad.mit.edu	37	17	10428305	10428305	+	Silent	SNP	C	C	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr17:10428305C>T	ENST00000245503.5	-	34	5124	c.4740G>A	c.(4738-4740)agG>agA	p.R1580R	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|MYH2_ENST00000397183.2_Silent_p.R1580R|MYH2_ENST00000532183.1_Intron	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1580					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						CAGCAATTTTCCTATCAACCT	0.453000													40	50					0	0	0.00222228	0	0
COL15A1	1306	broad.mit.edu	37	9	101748303	101748303	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr9:101748303C>T	ENST00000375001.3	+	3	980	c.557C>T	c.(556-558)cCc>cTc	p.P186L		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	186	TSP N-terminal.				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				AGCCGCATCCCCTTCCAGCGG	0.572000													41	8					0	0	0.00128727	0	0
FHOD1	29109	broad.mit.edu	37	16	67281244	67281244	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr16:67281244C>T	ENST00000258201.4	-	1	317	c.70G>A	c.(70-72)Gaa>Aaa	p.E24K	FHOD1_ENST00000567687.1_Missense_Mutation_p.E24K	NM_013241.2	NP_037373.2	Q9Y613	FHOD1_HUMAN	formin homology 2 domain containing 1	24					actin cytoskeleton organization	cytoplasm|cytoskeleton|nucleus	actin binding			breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	34		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)		TCGGTGTCTTCCAGGTACTGC	0.721000													5	15					0	0	0.000602214	0	0
UTP20	27340	broad.mit.edu	37	12	101679413	101679413	+	Splice_Site	SNP	C	C	T	rs143038674		TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr12:101679413C>T	ENST00000261637.4	+	3	366	c.193_splice	c.e3+1	p.F64_splice		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	64					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)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						CAGAACACTTCGGTATTTTCT	0.333000													26	28					0	0	0.000720815	0	0
FAHD2B	151313	broad.mit.edu	37	2	97749751	97749751	+	Silent	SNP	C	C	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr2:97749751C>T	ENST00000414820.1	-	8	1086	c.816G>A	c.(814-816)ggG>ggA	p.G272G	FAHD2B_ENST00000440566.2_Silent_p.G272G|FAHD2B_ENST00000272610.3_Silent_p.G272G			Q6P2I3	FAH2B_HUMAN	fumarylacetoacetate hydrolase domain containing 2B	272							hydrolase activity|metal ion binding			kidney(5)|large_intestine(2)|lung(3)|skin(2)	12						GGATGACATCCCCTGGGTAAA	0.557000													16	7					0	0	0.00074312	0	0
SCN9A	6335	broad.mit.edu	37	2	167162345	167162345	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr2:167162345G>A	ENST00000375387.4	-	5	896	c.556C>T	c.(556-558)Cgt>Tgt	p.R186C	SCN9A_ENST00000409435.1_Missense_Mutation_p.R185C|SCN9A_ENST00000303354.6_Missense_Mutation_p.R186C|SCN9A_ENST00000409672.1_Missense_Mutation_p.R185C			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	185						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	CACGGGTCACGAAGAAAAGTG	0.378000													38	35					0	0	0.00148497	0	0
PDGFD	80310	broad.mit.edu	37	11	103818392	103818392	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr11:103818392A>C	ENST00000302251.5	-	4	1004	c.553T>G	c.(553-555)Tca>Gca	p.S185A	PDGFD_ENST00000393158.2_Missense_Mutation_p.S191A	NM_025208.4|NM_033135.3	NP_079484.1|NP_149126.1	Q9GZP0	PDGFD_HUMAN	platelet derived growth factor D	191					positive regulation of cell division	endoplasmic reticulum lumen|extracellular region|Golgi membrane	growth factor activity			biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Melanoma(852;0.0563)|all_neural(303;0.165)		BRCA - Breast invasive adenocarcinoma(274;0.00136)|Epithelial(105;0.111)		TTACTTACTGAAATAGAGCTT	0.453000													11	17					0	0	0.00136819	0	0
APOH	350	broad.mit.edu	37	17	64219848	64219848	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr17:64219848C>T	ENST00000205948.6	-	4	420	c.383G>A	c.(382-384)gGa>gAa	p.G128E		NM_000042.2	NP_000033.2	P02749	APOH_HUMAN	apolipoprotein H (beta-2-glycoprotein I)	128	Sushi 2.				blood coagulation, intrinsic pathway|negative regulation of angiogenesis|negative regulation of blood coagulation|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of myeloid cell apoptosis|negative regulation of smooth muscle cell apoptosis|plasminogen activation|positive regulation of lipoprotein lipase activity|triglyceride metabolic process|triglyceride transport	cell surface|chylomicron|high-density lipoprotein particle|very-low-density lipoprotein particle	eukaryotic cell surface binding|glycoprotein binding|heparin binding|lipoprotein lipase activator activity|phospholipid binding			central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(6;9.74e-08)			GCTCCATTTTCCTTCCTCAGT	0.458000													25	39					0	0	0.00127121	0	0
TSIX	9383	broad.mit.edu	37	X	73046495	73046495	+	RNA	SNP	C	C	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chrX:73046495C>T	ENST00000604411.1	+	0	34456				XIST_ENST00000429829.1_lincRNA	NR_003255.2																						CTTGGGATTTCCCCAGGTCTT	0.443000													31	4					0	0	0.00209593	0	0
MUC5B	727897	broad.mit.edu	37	11	1263828	1263828	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr11:1263828C>G	ENST00000447027.1	+	31	5785	c.5727C>G	c.(5725-5727)atC>atG	p.I1909M	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000529681.1_Missense_Mutation_p.I1906M			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	1906	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CGACCTGGATCCTCACAAAGC	0.637000													15	36					0	0	0.000958276	0	0
GTPBP2	54676	broad.mit.edu	37	6	43590398	43590398	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr6:43590398C>T	ENST00000307126.5	-	10	1438	c.1439G>A	c.(1438-1440)gGg>gAg	p.G480E	GTPBP2_ENST00000476510.1_5'UTR|GTPBP2_ENST00000307114.7_Missense_Mutation_p.G392E	NM_019096.3	NP_061969.3	Q9BX10	GTPB2_HUMAN	GTP binding protein 2	480							GTP binding|GTPase activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(18;9.36e-06)|Lung NSC(15;0.00161)|all_lung(25;0.004)		all cancers(41;0.000501)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0826)|OV - Ovarian serous cystadenocarcinoma(102;0.167)			GTCAAAGTCCCCAAGCGCCAG	0.592000													56	69					0	0	0.000781405	0	0
PIBF1	10464	broad.mit.edu	37	13	73491275	73491275	+	Silent	SNP	C	C	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr13:73491275C>A	ENST00000326291.6	+	13	2039	c.1701C>A	c.(1699-1701)ccC>ccA	p.P567P		NM_006346.2	NP_006337.2	Q8WXW3	PIBF1_HUMAN	progesterone immunomodulatory binding factor 1	567						centrosome				breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24		Prostate(6;0.00191)|Breast(118;0.0736)|Acute lymphoblastic leukemia(28;0.0865)		GBM - Glioblastoma multiforme(99;0.000664)		CTAATGTTCCCACAACAGCCA	0.299000													6	101					0.000274275	0.00120617	0.000274275	1	0
E2F7	144455	broad.mit.edu	37	12	77421669	77421669	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr12:77421669G>A	ENST00000322886.7	-	11	2369	c.2134C>T	c.(2134-2136)Cct>Tct	p.P712S	E2F7_ENST00000416496.2_Missense_Mutation_p.P712S	NM_203394.2	NP_976328.2	Q96AV8	E2F7_HUMAN	E2F transcription factor 7	712					cell cycle	transcription factor complex	DNA binding|identical protein binding			central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(15)|lung(14)|ovary(3)|upper_aerodigestive_tract(2)	42						TTACCTGCAGGAGACTGCACA	0.413000													9	29					0	0	0.000978159	0	0
AHNAK	79026	broad.mit.edu	37	11	62288300	62288300	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr11:62288300C>T	ENST00000378024.4	-	5	13863	c.13589G>A	c.(13588-13590)gGa>gAa	p.G4530E	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	4530					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TATCTTAGGTCCTTTCAAATT	0.433000													31	26					0	0	0.000692331	0	0
DAW1	164781	broad.mit.edu	37	2	228783561	228783561	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr2:228783561G>A	ENST00000309931.2	+	11	1122	c.1039G>A	c.(1039-1041)Gaa>Aaa	p.E347K	DAW1_ENST00000373666.2_3'UTR|DAW1_ENST00000545118.1_Missense_Mutation_p.E332K	NM_178821.1	NP_849143.1			dynein assembly factor with WDR repeat domains 1																		TCATGAAGGTGAAATTTCAAA	0.408000													27	28					0	0	0.0024448	0	0
OR10Q1	219960	broad.mit.edu	37	11	57995461	57995461	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr11:57995461C>T	ENST00000316770.2	-	1	929	c.887G>A	c.(886-888)aGc>aAc	p.S296N		NM_001004471.2	NP_001004471.1	Q8NGQ4	O10Q1_HUMAN	olfactory receptor, family 10, subfamily Q, member 1	296					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)	35		Breast(21;0.0589)				GTTCCTAAGGCTGTAAAGCAA	0.547000													31	54					0	0	0.00209593	0	0
FZD2	2535	broad.mit.edu	37	17	42636091	42636091	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr17:42636091G>A	ENST00000315323.3	+	1	1167	c.1035G>A	c.(1033-1035)tgG>tgA	p.W345*		NM_001466.3	NP_001457.1	Q14332	FZD2_HUMAN	frizzled family receptor 2	345					axonogenesis|brain development|canonical Wnt receptor signaling pathway|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|positive regulation of cGMP metabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(8)	33		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		CCATCTGGTGGGTCATCCTGT	0.622000													11	31					0	0	0.00136819	0	0
SPEG	10290	broad.mit.edu	37	2	220337662	220337662	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr2:220337662C>T	ENST00000312358.7	+	16	4123	c.3991C>T	c.(3991-3993)Cag>Tag	p.Q1331*	SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	1331	Fibronectin type-III 1.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		GGGCTCGGACCAGTGGACGGC	0.657000													12	18					0	0	0.000219431	0	0
ZNF135	7694	broad.mit.edu	37	19	58573071	58573071	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr19:58573071G>A	ENST00000506786.1	+	3	585	c.31G>A	c.(31-33)Gtg>Atg	p.V11M	ZNF135_ENST00000401053.4_Missense_Mutation_p.V65M|ZNF135_ENST00000359978.6_Missense_Mutation_p.V65M|ZNF135_ENST00000439855.2_Missense_Mutation_p.V53M|ZNF135_ENST00000313434.5_Missense_Mutation_p.V53M|ZNF135_ENST00000511556.1_Missense_Mutation_p.V53M			B4DHH9	B4DHH9_HUMAN	zinc finger protein 135	53					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(26)|ovary(1)|skin(1)|urinary_tract(1)	41		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)		TCTGGTCTCTGTGGGTAAGGC	0.512000													42	61					0	0	0.000781405	0	0
SLC8A2	6543	broad.mit.edu	37	19	47935677	47935677	+	Silent	SNP	C	C	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr19:47935677C>A	ENST00000236877.6	-	9	2531	c.2136G>T	c.(2134-2136)ggG>ggT	p.G712G	SLC8A2_ENST00000601757.1_5'UTR|SLC8A2_ENST00000542837.1_Silent_p.G468G|SLC8A2_ENST00000539381.1_Silent_p.G175G	NM_015063.2	NP_055878.1	Q9UPR5	NAC2_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 2	712					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1)	31		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)		CCTCCCGGGACCCGTCCTCCT	0.612000													20	34					2.52088e-20	1.13311e-19	0.000375601	1	0
UNC5A	90249	broad.mit.edu	37	5	176301449	176301449	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr5:176301449G>T	ENST00000329542.4	+	8	1534	c.1260G>T	c.(1258-1260)gaG>gaT	p.E420D	UNC5A_ENST00000261961.3_Missense_Mutation_p.E380D	NM_133369.2	NP_588610.2	Q6ZN44	UNC5A_HUMAN	unc-5 homolog A (C. elegans)	420					apoptosis|axon guidance|regulation of apoptosis	integral to membrane|plasma membrane				endometrium(4)|kidney(3)|large_intestine(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	34	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTGAGGCCGAGGAGTTCGTCT	0.667000													32	38					9.8876e-21	4.45195e-20	0.000953801	1	0
ZNF709	163051	broad.mit.edu	37	19	12577622	12577622	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr19:12577622C>T	ENST00000397732.3	-	2	217	c.46G>A	c.(46-48)Gag>Aag	p.E16K	ZNF709_ENST00000428311.1_Missense_Mutation_p.E16K|CTD-3105H18.18_ENST00000598753.1_Missense_Mutation_p.E16K	NM_152601.3	NP_689814.1	Q8N972	ZN709_HUMAN	zinc finger protein 709	16	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(3)|upper_aerodigestive_tract(3)	6						GCCCACTCCTCCTGGGTGAAG	0.468000													26	38					0	0	0.000878237	0	0
C15orf43	145645	broad.mit.edu	37	15	45258435	45258435	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr15:45258435C>T	ENST00000340827.3	+	5	445	c.428C>T	c.(427-429)tCc>tTc	p.S143F		NM_152448.2	NP_689661.1	Q8NHR7	CO043_HUMAN	chromosome 15 open reading frame 43	143										NS(1)|breast(2)|large_intestine(1)|lung(2)|skin(2)	8		all_cancers(109;3.68e-08)|all_epithelial(112;1.05e-06)|Lung NSC(122;1.42e-05)|all_lung(180;0.000112)|Melanoma(134;0.0192)		all cancers(107;7.64e-17)|GBM - Glioblastoma multiforme(94;2.03e-06)		AAAGAATTATCCAAAAGGTAT	0.318000													6	8					0	0	0.00116845	0	0
LAMA3	3909	broad.mit.edu	37	18	21523871	21523871	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr18:21523871G>A	ENST00000313654.9	+	69	9387	c.9146G>A	c.(9145-9147)gGg>gAg	p.G3049E	LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000269217.6_Missense_Mutation_p.G1440E|LAMA3_ENST00000399516.3_Missense_Mutation_p.G2993E|LAMA3_ENST00000587184.1_Missense_Mutation_p.G1384E	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	3049	Laminin G-like 4.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TTTGCACTGGGGACAGATGGG	0.468000													11	37					0	0	0.000978159	0	0
BRMS1	25855	broad.mit.edu	37	11	66108330	66108330	+	Silent	SNP	C	C	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr11:66108330C>T	ENST00000359957.3	-	6	610	c.450G>A	c.(448-450)ctG>ctA	p.L150L	BRMS1_ENST00000425825.2_Silent_p.L150L	NM_015399.3	NP_056214.1	Q9HCU9	BRMS1_HUMAN	breast cancer metastasis suppressor 1	150					apoptosis|negative regulation of anti-apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of transcription, DNA-dependent|positive regulation of anoikis|positive regulation of protein deacetylation|transcription, DNA-dependent	cytoplasm|nucleus	NF-kappaB binding			large_intestine(1)|liver(1)|lung(1)|prostate(1)|skin(1)	5						CATAGAGCAGCAGCTTCTCAC	0.632000													6	12					0	0	0.00116845	0	0
KIF18A	81930	broad.mit.edu	37	11	28080511	28080511	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr11:28080511G>A	ENST00000263181.6	-	13	2200	c.1910C>T	c.(1909-1911)aCc>aTc	p.T637I		NM_031217.3	NP_112494.3	Q8NI77	KI18A_HUMAN	kinesin family member 18A	637					blood coagulation|microtubule depolymerization|microtubule-based movement|mitotic metaphase plate congression|mitotic prometaphase|protein transport	caveola|cytosol|kinetochore microtubule|microtubule organizing center|nucleus|ruffle	actin binding|ATP binding|microtubule plus-end binding|plus-end-directed microtubule motor activity|tubulin-dependent ATPase activity|ubiquitin binding			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	36						TTGTGGAAAGGTCATAAGAAC	0.368000													28	35					0	0	0.000491102	0	0
CNOT10	25904	broad.mit.edu	37	3	32811394	32811394	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr3:32811394C>T	ENST00000328834.5	+	18	2336	c.2020C>T	c.(2020-2022)Cat>Tat	p.H674Y	CNOT10_ENST00000331889.6_Missense_Mutation_p.H647Y|CNOT10_ENST00000454516.2_Missense_Mutation_p.H734Y	NM_015442.2	NP_056257.1	Q9H9A5	CNOTA_HUMAN	CCR4-NOT transcription complex, subunit 10	674					nuclear-transcribed mRNA poly(A) tail shortening	cytosol	protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(3)	23						TTCAATGATCCATCCTAAAGA	0.448000													54	47					0	0	0.000781405	0	0
ZBTB16	7704	broad.mit.edu	37	11	113934823	113934823	+	Silent	SNP	G	G	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr11:113934823G>A	ENST00000335953.4	+	2	1181	c.801G>A	c.(799-801)ggG>ggA	p.G267G	ZBTB16_ENST00000392996.2_Silent_p.G267G	NM_006006.4	NP_005997.2	Q05516	ZBT16_HUMAN	zinc finger and BTB domain containing 16	267					apoptosis|central nervous system development|mesonephros development|myeloid cell differentiation|negative regulation of myeloid cell differentiation|negative regulation of transcription, DNA-dependent	nuclear speck|PML body|transcriptional repressor complex	protein homodimerization activity|zinc ion binding			central_nervous_system(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(2)	6		all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438)		BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018)		TCTCAGGAGGGATGGGGGACA	0.632000													5	16					0	0	0.00116845	0	0
PCDHB7	56129	broad.mit.edu	37	5	140553523	140553523	+	Silent	SNP	G	G	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr5:140553523G>A	ENST00000231137.3	+	1	1281	c.1107G>A	c.(1105-1107)agG>agA	p.R369R		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN		369	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTGTTTTTAGGATTAGAGACA	0.463000													13	23					0	0	0.000219431	0	0
LRP1B	53353	broad.mit.edu	37	2	141777653	141777653	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr2:141777653C>T	ENST00000389484.3	-	12	2779	c.1808G>A	c.(1807-1809)gGc>gAc	p.G603D		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	603					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CACAGCAATGCCCTCTACATT	0.363000										TSP Lung(27;0.18)			18	9					0	0	0.00188189	0	0
RNF214	257160	broad.mit.edu	37	11	117150915	117150915	+	Nonsense_Mutation	SNP	T	T	G			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr11:117150915T>G	ENST00000530849.1	+	7	630	c.620T>G	c.(619-621)tTa>tGa	p.L207*	RNF214_ENST00000531287.1_Nonsense_Mutation_p.L207*|RNF214_ENST00000531452.1_Nonsense_Mutation_p.L362*|RNF214_ENST00000300650.4_Nonsense_Mutation_p.L362*			Q8ND24	RN214_HUMAN	ring finger protein 214	362							zinc ion binding			cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	23	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.88e-05)|Epithelial(105;0.000397)|all cancers(92;0.00258)		CGGAAAGAGTTACTGGTACTG	0.368000													21	49					0	0	0.000586117	0	0
GON4L	54856	broad.mit.edu	37	1	155732094	155732094	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr1:155732094G>A	ENST00000437809.1	-	23	4920	c.4798C>T	c.(4798-4800)Cgg>Tgg	p.R1600W	GON4L_ENST00000368331.1_Missense_Mutation_p.R1600W|GON4L_ENST00000271883.5_Missense_Mutation_p.R1600W			Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	1600					regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					TTGCTGGCCCGAGCCCGACTT	0.542000													19	11					0	0	0.00121646	0	0
OR4M2	390538	broad.mit.edu	37	15	22368705	22368705	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr15:22368705C>T	ENST00000332663.2	+	1	228	c.130C>T	c.(130-132)Ctt>Ttt	p.L44F	RP11-69H14.6_ENST00000558896.1_RNA	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M, member 2	44					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		AGGAAATATCCTTATCATTTG	0.408000													19	82					0	0	0.00121646	0	0
TRBV10-1	28585	broad.mit.edu	37	7	142232070	142232070	+	RNA	SNP	G	G	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr7:142232070G>A	ENST00000390364.3	-	0	20																											GCTGTGGGCAGACTGAAGTTG	0.557000													8	2					0	0	0.000442599	0	0
LRRC37A11P	342666	broad.mit.edu	37	17	37187251	37187251	+	RNA	SNP	C	C	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr17:37187251C>T	ENST00000425901.2	+	0	1093					NR_033753.2																						GACTACAGCTCCTCCAAAACA	0.488000													3	3					0	0	6.4e-05	0	0
HLA-DOA	3111	broad.mit.edu	37	6	32975148	32975148	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr6:32975148C>T	ENST00000229829.5	-	3	628	c.553G>A	c.(553-555)Gac>Aac	p.D185N	HLA-DOA_ENST00000450833.2_Missense_Mutation_p.D155N	NM_002119.3	NP_002110.1	P06340	DOA_HUMAN	major histocompatibility complex, class II, DO alpha	185	Alpha-2.|Ig-like C1-type.				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endosome membrane|integral to membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity			NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(1)	9						TCATAGACGTCCTCGGCTGAG	0.627000													49	72					0	0	0.000781405	0	0
ZZEF1	23140	broad.mit.edu	37	17	3967730	3967730	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr17:3967730G>A	ENST00000381638.2	-	29	4767	c.4643C>T	c.(4642-4644)cCc>cTc	p.P1548L		NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	1548							calcium ion binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						TTTCACTGTGGGCACCAGTCT	0.587000													36	51					0	0	0.000589545	0	0
NOVA1	4857	broad.mit.edu	37	14	26917279	26917279	+	Silent	SNP	C	C	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr14:26917279C>T	ENST00000539517.2	-	5	1727	c.1410G>A	c.(1408-1410)cgG>cgA	p.R470R	NOVA1_ENST00000267422.7_Silent_p.R348R|NOVA1_ENST00000465357.2_Silent_p.R446R	NM_002515.2	NP_002506.2	P51513	NOVA1_HUMAN	neuro-oncological ventral antigen 1	473	KH 3.				locomotory behavior|RNA splicing|synaptic transmission	nucleus	RNA binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(265;0.0135)		TGGTTACCTTCCGATTCCTTG	0.453000													9	18					0	0	0.000274275	0	0
DOCK3	1795	broad.mit.edu	37	3	51370636	51370636	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr3:51370636C>T	ENST00000266037.9	+	35	3586	c.3563C>T	c.(3562-3564)tCc>tTc	p.S1188F		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	1188	DHR-2.					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		ACCGGCATTTCCTTTGTGACC	0.532000													52	39					0	0	0.000781405	0	0
SCAMP5	192683	broad.mit.edu	37	15	75310792	75310792	+	Silent	SNP	G	G	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr15:75310792G>A	ENST00000361900.6	+	7	636	c.429G>A	c.(427-429)acG>acA	p.T143T	SCAMP5_ENST00000425597.3_Silent_p.T143T|SCAMP5_ENST00000562212.1_Silent_p.T151T|SCAMP5_ENST00000545456.1_Silent_p.T72T|SCAMP5_ENST00000568081.1_Silent_p.T76T	NM_001178111.1	NP_001171582.1	Q8TAC9	SCAM5_HUMAN	secretory carrier membrane protein 5	143					exocytosis|negative regulation of endocytosis|positive regulation of calcium ion-dependent exocytosis|positive regulation of cytokine secretion|protein transport|response to endoplasmic reticulum stress	cell junction|integral to membrane|recycling endosome membrane|synaptic vesicle membrane|trans-Golgi network membrane	protein binding			large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2)	5						TCTTCGGAACGAACATTGGCT	0.592000													153	63					0	0	0.000781405	0	0
CNTNAP4	85445	broad.mit.edu	37	16	76573616	76573616	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr16:76573616G>A	ENST00000476707.1	+	19	3369	c.3229_splice	c.e19-1	p.G1077_splice	CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000307431.8_Intron|CNTNAP4_ENST00000478060.1_Splice_Site_p.G1001_splice|CNTNAP4_ENST00000377504.4_Intron			Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	1074	Laminin G-like 4.				cell adhesion|signal transduction	integral to membrane	receptor binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						CCCACTCTAGGAAGTTTGCAG	0.323000													12	21					0	0	0.000978159	0	0
IL1RL2	8808	broad.mit.edu	37	2	102805736	102805736	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr2:102805736T>G	ENST00000264257.2	+	3	385	c.259T>G	c.(259-261)Tgg>Ggg	p.W87G	IL1RL2_ENST00000481806.1_Intron|IL1RL2_ENST00000539491.1_Missense_Mutation_p.W87G|IL1RL2_ENST00000441515.2_Intron	NM_003854.2	NP_003845.2	Q9HB29	ILRL2_HUMAN	interleukin 1 receptor-like 2	87	Ig-like C2-type 1.				cellular defense response|innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|liver(2)|lung(8)|ovary(2)|prostate(1)	26						CCCCATGGAATGGGGGGACTC	0.348000													13	25					0	0	0.000422831	0	0
RP11-24M17.5	0	broad.mit.edu	37	15	76071784	76071784	+	RNA	SNP	C	C	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr15:76071784C>T	ENST00000395215.3	+	0	296																											CCGCAATAATCAATCAACTCA	0.502000													8	6					0	0	0.000274275	0	0
MUC16	94025	broad.mit.edu	37	19	9077155	9077155	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr19:9077155C>T	ENST00000397910.4	-	3	10494	c.10291G>A	c.(10291-10293)Gat>Aat	p.D3431N		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3432	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GATGTCTGATCTGACCAAGAA	0.453000													27	33					0	0	0.001512	0	0
ZZEF1	23140	broad.mit.edu	37	17	3967729	3967729	+	Silent	SNP	G	G	A	rs112690569		TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr17:3967729G>A	ENST00000381638.2	-	29	4768	c.4644C>T	c.(4642-4644)ccC>ccT	p.P1548P		NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	1548							calcium ion binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						CTTTCACTGTGGGCACCAGTC	0.587000													36	51					0	0	0.000589545	0	0
MROH2B	133558	broad.mit.edu	37	5	41048429	41048429	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr5:41048429C>T	ENST00000399564.4	-	16	2131	c.1681G>A	c.(1681-1683)Gaa>Aaa	p.E561K	MROH2B_ENST00000506092.2_Missense_Mutation_p.E116K	NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B																		CTTGTACCTTCCAGAGGCTGC	0.453000													7	23					0	0	0.000274275	0	0
ZNF695	57116	broad.mit.edu	37	1	247151499	247151499	+	Silent	SNP	G	G	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr1:247151499G>A	ENST00000339986.7	-	4	465	c.318C>T	c.(316-318)ttC>ttT	p.F106F	ZNF695_ENST00000487338.2_Silent_p.F106F|ZNF695_ENST00000498046.2_5'UTR	NM_020394.4	NP_065127.4	Q8IW36	ZN695_HUMAN	zinc finger protein 695	106					regulation of transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			endometrium(1)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1)	13	all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			TCACTTTTTGGAATGAAACTT	0.373000													116	69					0	0	0.000781405	0	0
KIAA0430	9665	broad.mit.edu	37	16	15715603	15715603	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr16:15715603G>A	ENST00000396368.3	-	12	2832	c.2626C>T	c.(2626-2628)Ctc>Ttc	p.L876F	KIAA0430_ENST00000551742.1_Missense_Mutation_p.L876F|KIAA0430_ENST00000548025.1_Missense_Mutation_p.L873F|KIAA0430_ENST00000602337.1_Missense_Mutation_p.L873F|KIAA0430_ENST00000540441.2_Missense_Mutation_p.L711F|KIAA0430_ENST00000344181.3_Missense_Mutation_p.L545F	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	LKAP_HUMAN	KIAA0430	875						peroxisome	nucleotide binding|RNA binding			breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						AGTAAAGAGAGTGATTTGCTG	0.393000													25	25					0	0	0.00209593	0	0
CYLD	1540	broad.mit.edu	37	16	50813599	50813599	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr16:50813599C>T	ENST00000540145.1	+	9	1577	c.1162C>T	c.(1162-1164)Ctt>Ttt	p.L388F	CYLD_ENST00000568704.2_Intron|CYLD_ENST00000569418.1_Missense_Mutation_p.L385F|CYLD_ENST00000566206.1_Missense_Mutation_p.L385F|CYLD_ENST00000311559.9_Missense_Mutation_p.L388F|CYLD_ENST00000427738.3_Missense_Mutation_p.L388F|CYLD_ENST00000398568.2_Missense_Mutation_p.L385F|CYLD_ENST00000564326.1_Missense_Mutation_p.L385F			Q9NQC7	CYLD_HUMAN	cylindromatosis (turban tumor syndrome)	388	Interaction with TRIP.				cell cycle|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K63-linked deubiquitination|regulation of microtubule cytoskeleton organization|regulation of mitotic cell cycle|translation|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	cytosol|extrinsic to internal side of plasma membrane|microtubule|perinuclear region of cytoplasm|ribosome	proline-rich region binding|protein kinase binding|structural constituent of ribosome|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(9)|lung(17)|pancreas(1)|skin(22)|upper_aerodigestive_tract(1)	62		all_cancers(37;0.0156)				TGCAAAATCTCTTACAGAGAT	0.373000			"""Mis, N, F, S"""		cylindroma	cylindroma			Multiple Trichoepithelioma, Familial;Familial Cylindromatosis				15	34					0	0	0.000422831	0	0
SNCAIP	9627	broad.mit.edu	37	5	121739548	121739548	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr5:121739548G>A	ENST00000261367.7	+	5	1687	c.259G>A	c.(259-261)Gaa>Aaa	p.E87K	SNCAIP_ENST00000504884.2_Missense_Mutation_p.E40K|SNCAIP_ENST00000414317.2_Silent_p.T30T|SNCAIP_ENST00000379538.3_Silent_p.T24T|SNCAIP_ENST00000379536.2_Missense_Mutation_p.E40K|SNCAIP_ENST00000542191.1_5'UTR|SNCAIP_ENST00000379533.2_Missense_Mutation_p.E87K|SNCAIP_ENST00000503116.2_Missense_Mutation_p.E87K|SNCAIP_ENST00000261368.8_Missense_Mutation_p.E40K			Q9Y6H5	SNCAP_HUMAN	synuclein, alpha interacting protein	40					cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding			NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		TACGCAAAACGAAGACAGATC	0.478000													18	21					0	0	0.00152264	0	0
FUNDC2P2	388965	broad.mit.edu	37	2	84518434	84518434	+	RNA	SNP	C	C	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr2:84518434C>T	ENST00000331369.5	+	0	628																											CTGGTTTTTTCCAGTCAGCAG	0.473000													27	9					0	0	0.000586117	0	0
HMCN1	83872	broad.mit.edu	37	1	186024788	186024788	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr1:186024788T>A	ENST00000271588.4	+	45	7355	c.7126T>A	c.(7126-7128)Tat>Aat	p.Y2376N	HMCN1_ENST00000367492.2_Missense_Mutation_p.Y2376N	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	2376	Ig-like C2-type 21.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TGACAAAAAATATGACTTAAG	0.428000													24	7					0	0	0.000878237	0	0
MST1R	4486	broad.mit.edu	37	3	49924951	49924951	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr3:49924951C>T	ENST00000296474.3	-	20	4019	c.3992G>A	c.(3991-3993)cGa>cAa	p.R1331Q	MST1R_ENST00000344206.4_Missense_Mutation_p.R1282Q	NM_002447.2	NP_002438.2	Q04912	RON_HUMAN	macrophage stimulating 1 receptor (c-met-related tyrosine kinase)	1331	Protein kinase.				cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|macrophage colony-stimulating factor receptor activity|protein binding			cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		GAAGGTGGGTCGCACTGCTGG	0.557000													18	48					0	0	0.00074312	0	0
GSR	2936	broad.mit.edu	37	8	30550507	30550507	+	Silent	SNP	C	C	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr8:30550507C>T	ENST00000221130.5	-	8	951	c.861G>A	c.(859-861)gtG>gtA	p.V287V	GSR_ENST00000414019.1_Silent_p.V244V|GSR_ENST00000546342.1_Intron|GSR_ENST00000541648.1_Silent_p.V287V|GSR_ENST00000537535.1_Intron	NM_000637.3|NM_001195102.1|NM_001195103.1	NP_000628.2|NP_001182031.1|NP_001182032.1	P00390	GSHR_HUMAN	glutathione reductase	287					cell redox homeostasis|nucleobase, nucleoside and nucleotide interconversion	cytosol|mitochondrion	electron carrier activity|glutathione-disulfide reductase activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(2)	23				KIRC - Kidney renal clear cell carcinoma(542;0.105)|Kidney(114;0.125)	Carmustine(DB00262)|Glutathione(DB00143)|NADH(DB00157)	TCAGCACCTCCACGCCAGCGT	0.527000													24	18					0	0	0.00106085	0	0
COL7A1	1294	broad.mit.edu	37	3	48626333	48626333	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr3:48626333C>T	ENST00000328333.8	-	18	2517	c.2410G>A	c.(2410-2412)Gct>Act	p.A804T	COL7A1_ENST00000454817.1_Missense_Mutation_p.A804T	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	804	Fibronectin type-III 7.|Nonhelical region (NC1).				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		AGTCTGTAAGCTGTGGCTCCA	0.622000													37	14					0	0	0.000692331	0	0
MBNL1	4154	broad.mit.edu	37	3	152174058	152174058	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr3:152174058C>T	ENST00000282486.6	+	8	2860	c.1018C>T	c.(1018-1020)Ccc>Tcc	p.P340S	MBNL1_ENST00000355460.2_Missense_Mutation_p.P322S|MBNL1_ENST00000357472.3_Intron|MBNL1_ENST00000324196.5_Silent_p.F270F|MBNL1_ENST00000485509.1_Silent_p.F270F|MBNL1_ENST00000282488.7_Missense_Mutation_p.P254S|MBNL1_ENST00000492948.1_Intron|MBNL1_ENST00000545754.1_Missense_Mutation_p.P266S|MBNL1_ENST00000485910.1_Missense_Mutation_p.P254S|MBNL1_ENST00000324210.5_Missense_Mutation_p.P334S|MBNL1_ENST00000493459.1_Missense_Mutation_p.P295S|MBNL1_ENST00000463374.1_Missense_Mutation_p.P340S|MBNL1_ENST00000498502.1_Intron			Q9NR56	MBNL1_HUMAN	muscleblind-like splicing regulator 1	340					embryonic limb morphogenesis|in utero embryonic development|myoblast differentiation|nervous system development	nucleus|stress granule	double-stranded RNA binding|protein binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			TCCGAAAGTTCCCATGGTGCA	0.483000													36	10					0	0	0.000814825	0	0
PEX11A	8800	broad.mit.edu	37	15	90226924	90226924	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr15:90226924G>A	ENST00000300056.3	-	3	577	c.428C>T	c.(427-429)tCc>tTc	p.S143F	PEX11A_ENST00000559170.1_3'UTR|PEX11A_ENST00000561224.1_Intron|PEX11A_ENST00000557982.1_Intron|PEX11A_ENST00000561257.1_Missense_Mutation_p.S112F	NM_001271573.1	NP_001258502.1	O75192	PX11A_HUMAN	peroxisomal biogenesis factor 11 alpha	143					cellular lipid metabolic process|peroxisome fission|signal transduction	integral to peroxisomal membrane				endometrium(2)|large_intestine(2)|lung(3)	7	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)			CATCTGCAGGGAGATTTCATA	0.493000													37	91					0	0	0.00058488	0	0
TEX14	56155	broad.mit.edu	37	17	56665017	56665017	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr17:56665017C>T	ENST00000389934.3	-	17	2830	c.2713G>A	c.(2713-2715)Gaa>Aaa	p.E905K	TEX14_ENST00000349033.5_Missense_Mutation_p.E905K|TEX14_ENST00000240361.8_Missense_Mutation_p.E911K	NM_001201457.1|NM_198393.3	NP_001188386.1|NP_938207.2	Q8IWB6	TEX14_HUMAN	testis expressed 14	911						cytoplasm	ATP binding|protein kinase activity			breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GAAACAGGTTCCACACTCATC	0.413000											OREG0024616	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	22	31					0	0	0.000375601	0	0
MBD1	4152	broad.mit.edu	37	18	47803466	47803466	+	Silent	SNP	G	G	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr18:47803466G>A	ENST00000591416.1	-	3	650	c.219C>T	c.(217-219)gcC>gcT	p.A73A	MBD1_ENST00000398495.2_Silent_p.A73A|MBD1_ENST00000436910.1_Silent_p.A73A|MBD1_ENST00000590208.1_Silent_p.A73A|MBD1_ENST00000349085.2_Silent_p.A73A|MBD1_ENST00000585595.1_Silent_p.A73A|MBD1_ENST00000269468.5_Silent_p.A73A|MBD1_ENST00000398493.1_Silent_p.A73A|MBD1_ENST00000398488.1_Silent_p.A73A|MBD1_ENST00000269471.5_Silent_p.A73A|MBD1_ENST00000353909.3_Silent_p.A73A|MBD1_ENST00000457839.2_Silent_p.A73A|MBD1_ENST00000347968.3_Silent_p.A73A|MBD1_ENST00000424334.2_Silent_p.A99A|MBD1_ENST00000585672.1_Silent_p.A73A|MBD1_ENST00000588937.1_Silent_p.A73A|MBD1_ENST00000587605.1_Silent_p.A73A|MBD1_ENST00000591535.1_Silent_p.A73A|MBD1_ENST00000382948.5_Silent_p.A73A|MBD1_ENST00000339998.6_Silent_p.A73A			Q9UIS9	MBD1_HUMAN	methyl-CpG binding domain protein 1	73					negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|nuclear speck	methyl-CpG binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36						GTACCTTGGGGGCTGGATAGC	0.532000													4	12					0	0	0.000602214	0	0
HOXC4	3221	broad.mit.edu	37	12	54448812	54448812	+	Silent	SNP	C	C	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr12:54448812C>T	ENST00000430889.2	+	2	664	c.618C>T	c.(616-618)aaC>aaT	p.N206N	HOXC4_ENST00000303406.4_Silent_p.N206N	NM_153633.2	NP_705897.1	P09017	HXC4_HUMAN	homeobox C4	206						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	13						GGTTCCAAAACCGTCGCATGA	0.577000													9	9					0	0	0.000274275	0	0
UGT2B10	7365	broad.mit.edu	37	4	69682355	69682355	+	Silent	SNP	C	C	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr4:69682355C>T	ENST00000265403.7	+	1	645	c.618C>T	c.(616-618)ttC>ttT	p.F206F	UGT2B10_ENST00000458688.2_Intron	NM_001075.4	NP_001066.1	P36537	UDB10_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B10	206					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						AAATGACTTTCATGGAGAGGG	0.353000													6	19					0	0	0.000157383	0	0
FLG2	388698	broad.mit.edu	37	1	152327317	152327317	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr1:152327317C>T	ENST00000388718.5	-	3	3017	c.2945G>A	c.(2944-2946)gGa>gAa	p.G982E	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	982	Ser-rich.						calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGAGGATTTTCCTGAGCCTGA	0.498000													128	76					0	0	0.000781405	0	0
BAZ2B	29994	broad.mit.edu	37	2	160289425	160289425	+	Silent	SNP	G	G	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr2:160289425G>A	ENST00000392783.2	-	9	2238	c.1743C>T	c.(1741-1743)tcC>tcT	p.S581S	BAZ2B_ENST00000343439.5_Silent_p.S579S|BAZ2B_ENST00000355831.2_Silent_p.S581S|BAZ2B_ENST00000392782.1_Silent_p.S579S	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	581					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						TTGCAGGATGGGAGTGATGCT	0.418000													23	59					0	0	0.000375601	0	0
IRF6	3664	broad.mit.edu	37	1	209974644	209974644	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr1:209974644G>A	ENST00000367021.3	-	3	287	c.115C>T	c.(115-117)Ccc>Tcc	p.P39S	IRF6_ENST00000542854.1_Intron	NM_006147.3	NP_006138.1	O14896	IRF6_HUMAN	interferon regulatory factor 6	39			P -> A (in VWS).		cell cycle arrest|interferon-gamma-mediated signaling pathway|mammary gland epithelial cell differentiation|negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|type I interferon-mediated signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			cervix(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	28				OV - Ovarian serous cystadenocarcinoma(81;0.0351)		TGTTTCCAGGGAATCTGGAAG	0.512000										HNSCC(57;0.16)			29	85					0	0	0.001512	0	0
TLE6	79816	broad.mit.edu	37	19	2991913	2991913	+	Silent	SNP	G	G	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr19:2991913G>T	ENST00000246112.4	+	14	1518	c.1317G>T	c.(1315-1317)ccG>ccT	p.P439P	TLE6_ENST00000452088.1_Silent_p.P316P	NM_001143986.1	NP_001137458.1	Q9H808	TLE6_HUMAN	transducin-like enhancer of split 6 (E(sp1) homolog, Drosophila)	316					regulation of transcription, DNA-dependent	nucleus				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|urinary_tract(1)	10				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)		CTGGGGGTCCGGATGCCTGTC	0.582000													4	26					0.00116845	0.00507094	0.00116845	1	0
SOGA1	140710	broad.mit.edu	37	20	35443718	35443718	+	Silent	SNP	G	G	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr20:35443718G>A	ENST00000237536.4	-	5	2468	c.2127C>T	c.(2125-2127)ctC>ctT	p.L709L	SOGA1_ENST00000279034.5_Silent_p.L471L|SOGA1_ENST00000456801.2_Silent_p.L312L|SOGA1_ENST00000357779.3_Silent_p.L471L	NM_080627.2	NP_542194.2	O94964	K0889_HUMAN	suppressor of glucose, autophagy associated 1	471								p.L709L(3)|p.L471L(1)		endometrium(5)|kidney(1)|lung(21)|urinary_tract(1)	28						TGGCATGGATGAGCTTGGTGT	0.637000													14	25					0	0	0.000219431	0	0
PRSS58	136541	broad.mit.edu	37	7	141955395	141955395	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr7:141955395G>A	ENST00000552471.1	-	2	458	c.139C>T	c.(139-141)Cac>Tac	p.H47Y	PRSS58_ENST00000547058.2_Missense_Mutation_p.H47Y			Q8IYP2	PRS58_HUMAN	protease, serine, 58	47	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	19						CAAAGCGGGTGGATCAGGACT	0.498000													13	3					0	0	0.00136819	0	0
MAEL	84944	broad.mit.edu	37	1	166963267	166963267	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr1:166963267G>A	ENST00000367872.4	+	5	728	c.484G>A	c.(484-486)Gaa>Aaa	p.E162K	MAEL_ENST00000367870.2_Missense_Mutation_p.E131K|MAEL_ENST00000491055.1_3'UTR	NM_032858.1	NP_116247.1	Q96JY0	MAEL_HUMAN	maelstrom spermatogenic transposon silencer	162					cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|multicellular organismal development|piRNA metabolic process|spermatogenesis	piP-body	DNA binding			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(12)|skin(4)	28						TATTATAGGTGAAATTCCACG	0.348000													23	17					0	0	0.00047179	0	0
ICAM4	3386	broad.mit.edu	37	19	10398009	10398009	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr19:10398009G>A	ENST00000393717.2	+	1	330	c.321G>A	c.(319-321)tgG>tgA	p.W107*	ICAM4_ENST00000380770.3_Nonsense_Mutation_p.W107*|CTD-2369P2.8_ENST00000589379.1_RNA|ICAM4_ENST00000340992.4_Nonsense_Mutation_p.W107*	NM_022377.3	NP_071772.1	Q14773	ICAM4_HUMAN	intercellular adhesion molecule 4 (Landsteiner-Wiener blood group)	107	Ig-like C2-type 1.				cell-cell adhesion|regulation of immune response	extracellular region|integral to membrane|plasma membrane	integrin binding			breast(1)|large_intestine(3)|lung(2)|pancreas(1)	7			OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)			TGAGGGCCTGGAGCTCCCTCG	0.677000													7	8					0	0	0.00198382	0	0
HYKK	123688	broad.mit.edu	37	15	78819883	78819883	+	Silent	SNP	C	C	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr15:78819883C>T	ENST00000566332.1	+	4	699	c.639C>T	c.(637-639)acC>acT	p.T213T	HYKK_ENST00000569878.1_Silent_p.T213T|HYKK_ENST00000563233.1_Silent_p.T213T|HYKK_ENST00000408962.2_Silent_p.T213T|HYKK_ENST00000388988.4_Silent_p.T213T					hydroxylysine kinase																		AAGTAATGACCAAATTAAGTC	0.368000													18	95					0	0	0.00152264	0	0
CTPS1	1503	broad.mit.edu	37	1	41454277	41454277	+	Silent	SNP	C	C	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr1:41454277C>T	ENST00000372621.4	+	5	958	c.450C>T	c.(448-450)acC>acT	p.T150T	CTPS1_ENST00000543104.1_Silent_p.T157T|CTPS1_ENST00000541520.1_Intron|CTPS1_ENST00000372616.1_Silent_p.T150T	NM_001905.2	NP_001896.2	P17812	PYRG1_HUMAN	CTP synthase 1	150					CTP biosynthetic process|glutamine metabolic process|nucleobase, nucleoside and nucleotide interconversion|response to drug	cytosol	ATP binding|CTP synthase activity|protein binding			endometrium(3)|lung(10)	13					L-Glutamine(DB00130)	TTGGTGGAACCGTGGGGGACA	0.433000													40	52					0	0	0.00170553	0	0
RNF25	64320	broad.mit.edu	37	2	219530920	219530920	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr2:219530920G>A	ENST00000295704.2	-	6	831	c.391C>T	c.(391-393)Cct>Tct	p.P131S		NM_022453.2	NP_071898.2	Q96BH1	RNF25_HUMAN	ring finger protein 25	131					positive regulation of NF-kappaB transcription factor activity	cytosol|nucleus	NF-kappaB binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24		Renal(207;0.0474)		Epithelial(149;6.99e-07)|all cancers(144;0.000129)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGGCCATGAGGGATGTTGTTA	0.512000													11	27					0	0	0.000978159	0	0
MXRA5	25878	broad.mit.edu	37	X	3235265	3235265	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chrX:3235265G>A	ENST00000217939.6	-	6	6611	c.6457C>T	c.(6457-6459)Ccg>Tcg	p.P2153S		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2153	Ig-like C2-type 6.					extracellular region				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)				GTCCTCCGCGGGGAGGTGCCC	0.697000													7	0					0	0	0.00198382	0	0
CLTCL1	8218	broad.mit.edu	37	22	19196487	19196487	+	Silent	SNP	G	G	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr22:19196487G>A	ENST00000263200.10	-	21	3459	c.3387C>T	c.(3385-3387)atC>atT	p.I1129I	CLTCL1_ENST00000353891.5_Silent_p.I1129I|CLTCL1_ENST00000427926.1_Silent_p.I1129I	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN	clathrin, heavy chain-like 1	1129	Heavy chain arm.|Proximal segment.				anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network	protein binding|signal transducer activity|structural molecule activity			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					CGTCCCCTCTGATATAGGAGT	0.537000			T	?	ALCL								4	12					0	0	0.000602214	0	0
SRD5A3	79644	broad.mit.edu	37	4	56225634	56225634	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr4:56225634C>T	ENST00000264228.4	+	2	571	c.343C>T	c.(343-345)Ctc>Ttc	p.L115F	SRD5A3_ENST00000514398.1_3'UTR	NM_024592.4	NP_078868.1	Q9H8P0	PORED_HUMAN	steroid 5 alpha-reductase 3	115					androgen biosynthetic process|dolichol metabolic process|dolichol-linked oligosaccharide biosynthetic process|polyprenol catabolic process	endoplasmic reticulum membrane|integral to membrane	3-oxo-5-alpha-steroid 4-dehydrogenase activity|oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor			cervix(1)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	12	all_cancers(7;0.0308)|all_lung(4;0.00195)|Lung NSC(11;0.00431)|all_epithelial(27;0.0425)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.0179)			GCTCAGAATTCTCGGGGCGGC	0.522000													27	29					0	0	0.00127121	0	0
NLRP3	114548	broad.mit.edu	37	1	247588892	247588892	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr1:247588892G>C	ENST00000366497.2	+	4	2927	c.2147G>C	c.(2146-2148)tGt>tCt	p.C716S	NLRP3_ENST00000391827.2_Missense_Mutation_p.C716S|NLRP3_ENST00000391828.3_Missense_Mutation_p.C716S|NLRP3_ENST00000336119.3_Missense_Mutation_p.C716S|NLRP3_ENST00000348069.2_Missense_Mutation_p.C716S|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000366496.2_Missense_Mutation_p.C716S	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	721					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			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)			CATGCTGCCTGTTCTCATGGG	0.522000													10	41					0	0	0.000978159	0	0
KIAA1377	57562	broad.mit.edu	37	11	101849153	101849153	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr11:101849153C>T	ENST00000263468.8	+	7	3191	c.2921C>T	c.(2920-2922)cCt>cTt	p.P974L	KIAA1377_ENST00000537689.1_Missense_Mutation_p.P775L	NM_020802.2	NP_065853.2	Q9P2H0	K1377_HUMAN	KIAA1377	974							protein binding			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)		AGACAAAACCCTGGATCTGTA	0.333000													46	62					0	0	0.000781405	0	0
OR4C12	283093	broad.mit.edu	37	11	50003317	50003317	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr11:50003317G>A	ENST00000335238.4	-	1	754	c.721C>T	c.(721-723)Cac>Tac	p.H241Y		NM_001005270.2	NP_001005270.1	Q96R67	OR4CC_HUMAN	olfactory receptor, family 4, subfamily C, member 12	241					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|kidney(4)|large_intestine(3)|liver(1)|lung(19)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	36						ACTATGATGTGAGAAATACAG	0.403000													8	9					0	0	0.000157383	0	0
FAT2	2196	broad.mit.edu	37	5	150908755	150908755	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr5:150908755C>T	ENST00000261800.5	-	14	10022	c.10010G>A	c.(10009-10011)gGt>gAt	p.G3337D		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	3337	Cadherin 30.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GATGACGTCACCCACAAGGGC	0.517000													19	28					0	0	0.00152264	0	0
OR10A3	26496	broad.mit.edu	37	11	7960996	7960996	+	Silent	SNP	C	C	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr11:7960996C>T	ENST00000360759.3	-	1	145	c.72G>A	c.(70-72)caG>caA	p.Q24Q		NM_001003745.1	NP_001003745.1	P58181	O10A3_HUMAN	olfactory receptor, family 10, subfamily A, member 3	24					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)	21				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		AGAGCTGCACCTGGAGCTCAG	0.408000													7	16					0	0	0.00198382	0	0
EFHC1	114327	broad.mit.edu	37	6	52344580	52344580	+	Silent	SNP	A	A	C			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr6:52344580A>C	ENST00000371068.5	+	9	1738	c.1635A>C	c.(1633-1635)gcA>gcC	p.A545A	EFHC1_ENST00000433625.2_Silent_p.A454A|EFHC1_ENST00000538167.1_Silent_p.A526A	NM_018100.3	NP_060570.2	Q5JVL4	EFHC1_HUMAN	EF-hand domain (C-terminal) containing 1	545						axoneme|neuronal cell body	calcium ion binding|protein C-terminus binding			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	27	Lung NSC(77;0.109)					CTCCAGAAGCAGAAAGGTGTG	0.423000													14	20					0	0	0.000219431	0	0
CPNE9	151835	broad.mit.edu	37	3	9760195	9760195	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr3:9760195G>A	ENST00000383832.3	+	17	1340	c.1150G>A	c.(1150-1152)Gag>Aag	p.E384K	CPNE9_ENST00000383831.3_Missense_Mutation_p.E384K	NM_153635.2	NP_705899.2	Q8IYJ1	CPNE9_HUMAN	copine family member IX	384	VWFA.									breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	16	Medulloblastoma(99;0.227)					TGCGGGCATCGAGGGTGTGCT	0.552000													29	23					0	0	0.001512	0	0
ADAM28	10863	broad.mit.edu	37	8	24171031	24171031	+	Translation_Start_Site	SNP	G	G	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr8:24171031G>A	ENST00000397649.3	+	0	595				RP11-624C23.1_ENST00000523578.1_RNA|ADAM28_ENST00000265769.4_Missense_Mutation_p.D172N|ADAM28_ENST00000437154.2_Missense_Mutation_p.D172N|RP11-624C23.1_ENST00000518988.1_RNA|ADAM28_ENST00000540823.1_Intron|RP11-624C23.1_ENST00000523700.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA			Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28						proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		CTGTGGGATGGATGGTGTGTT	0.433000													13	6					0	0	0.000566183	0	0
CACNG4	27092	broad.mit.edu	37	17	65026607	65026607	+	Silent	SNP	C	C	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr17:65026607C>T	ENST00000262138.3	+	4	473	c.471C>T	c.(469-471)atC>atT	p.I157I		NM_014405.3	NP_055220.1	Q9UBN1	CCG4_HUMAN	calcium channel, voltage-dependent, gamma subunit 4	157					membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane	voltage-gated calcium channel activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(3)	19	all_cancers(12;9.86e-11)		BRCA - Breast invasive adenocarcinoma(6;1.35e-07)			TCGGTATCATCGTCTACATTT	0.552000													41	74					0	0	0.000781405	0	0
SUSD4	55061	broad.mit.edu	37	1	223438088	223438088	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr1:223438088C>T	ENST00000343846.3	-	4	1241	c.608G>A	c.(607-609)gGg>gAg	p.G203E	SUSD4_ENST00000478605.1_Intron|SUSD4_ENST00000344029.6_Missense_Mutation_p.G203E|SUSD4_ENST00000454695.2_Missense_Mutation_p.G43E|SUSD4_ENST00000366878.4_Missense_Mutation_p.G203E			Q5VX71	SUSD4_HUMAN	sushi domain containing 4	203	Sushi 3.					integral to membrane				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(131;0.0611)		GATCACAGTCCCCACCGGGAA	0.512000													41	25					0	0	0.000589545	0	0
NPFF	8620	broad.mit.edu	37	12	53900650	53900650	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr12:53900650C>T	ENST00000267017.3	-	3	415	c.252G>A	c.(250-252)tgG>tgA	p.W84*	RP11-793H13.10_ENST00000591834.1_Missense_Mutation_p.E462K	NM_003717.2	NP_003708.1	O15130	NPFF_HUMAN	neuropeptide FF-amide peptide precursor	84					neuropeptide signaling pathway|synaptic transmission	extracellular region|soluble fraction	neuropeptide hormone activity			haematopoietic_and_lymphoid_tissue(1)|prostate(1)|urinary_tract(1)	3						ATTCATTCCTCCAGGATCCCT	0.567000													28	50					0	0	0.00058488	0	0
SLC26A7	115111	broad.mit.edu	37	8	92364064	92364064	+	Silent	SNP	C	C	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr8:92364064C>T	ENST00000276609.3	+	10	1406	c.1167C>T	c.(1165-1167)ttC>ttT	p.F389F	SLC26A7_ENST00000523719.1_Silent_p.F389F|SLC26A7_ENST00000309536.2_Silent_p.F389F|SLC26A7_ENST00000520249.1_3'UTR	NM_052832.2	NP_439897.1	Q8TE54	S26A7_HUMAN	solute carrier family 26 (anion exchanger), member 7	389						basolateral plasma membrane|integral to membrane|recycling endosome membrane	anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50			BRCA - Breast invasive adenocarcinoma(11;0.00802)			CTTGCATTTTCGTCCTTATAG	0.353000													36	24					0	0	0.000680045	0	0
CDK11B	984	broad.mit.edu	37	1	1572329	1572329	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr1:1572329G>A	ENST00000407249.3	-	17	1738	c.1739C>T	c.(1738-1740)cCt>cTt	p.P580L	CDK11B_ENST00000341832.6_Missense_Mutation_p.P533L|CDK11B_ENST00000340677.5_Missense_Mutation_p.P567L|CDK11B_ENST00000317673.7_Missense_Mutation_p.P578L			P21127	CD11B_HUMAN	cyclin-dependent kinase 11B	590	Protein kinase.				apoptosis|cell proliferation|mitosis|regulation of cell growth|regulation of mRNA processing|regulation of transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity|protein binding			endometrium(2)|large_intestine(3)|lung(4)|skin(1)|stomach(2)	12						GGCCTTCAGAGGGGATCCGTA	0.682000													8	15					0	0	0.000274275	0	0
COL4A6	1288	broad.mit.edu	37	X	107408127	107408127	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chrX:107408127G>A	ENST00000334504.7	-	39	4183	c.3950C>T	c.(3949-3951)cCt>cTt	p.P1317L	COL4A6_ENST00000394872.2_Missense_Mutation_p.P1318L|COL4A6_ENST00000545689.1_Missense_Mutation_p.P1293L|COL4A6_ENST00000372216.4_Missense_Mutation_p.P1318L|COL4A6_ENST00000538570.1_Missense_Mutation_p.P1293L	NM_033641.2	NP_378667.1	Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	1318	Triple-helical region.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						TAGCTCTCCAGGGAGGCCAGA	0.602000									Alport syndrome with Diffuse Leiomyomatosis				14	4					0	0	0.000308642	0	0
DNAH11	8701	broad.mit.edu	37	7	21678670	21678670	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr7:21678670C>T	ENST00000328843.6	+	28	4977	c.4946C>T	c.(4945-4947)gCt>gTt	p.A1649V	DNAH11_ENST00000409508.3_Missense_Mutation_p.A1644V			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1649	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TCAAAAGGAGCTCAGCCTAAA	0.403000									Kartagener syndrome				8	33					0	0	0.000157383	0	0
SPTAN1	6709	broad.mit.edu	37	9	131329158	131329158	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr9:131329158C>T	ENST00000372739.3	+	2	249	c.139C>T	c.(139-141)Cag>Tag	p.Q47*	SPTAN1_ENST00000358161.5_Nonsense_Mutation_p.Q47*|SPTAN1_ENST00000372731.4_Nonsense_Mutation_p.Q47*	NM_001130438.2	NP_001123910.1	Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	47					actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						CTATCGATTCCAGTTCTTTCA	0.473000													61	6					0	0	0.000781405	0	0
SNX1	6642	broad.mit.edu	37	15	64418364	64418364	+	Silent	SNP	G	G	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr15:64418364G>A	ENST00000353874.4	+	6	633	c.597G>A	c.(595-597)gaG>gaA	p.E199E	SNX1_ENST00000261889.5_Silent_p.E199E|SNX1_ENST00000561026.1_Silent_p.E134E|SNX1_ENST00000560829.1_Intron|SNX1_ENST00000559844.1_Silent_p.E199E			Q13596	SNX1_HUMAN	sorting nexin 1	199	PX.				cell communication|early endosome to Golgi transport|endocytosis|intracellular protein transport	early endosome membrane|Golgi apparatus	phosphatidylinositol binding|protein binding|protein transporter activity			breast(1)|endometrium(1)|large_intestine(5)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	13						AGCTTTCCGAGAAGCACTCTC	0.453000													18	19					0	0	0.00074312	0	0
NR2E1	7101	broad.mit.edu	37	6	108497890	108497890	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr6:108497890C>T	ENST00000368986.4	+	4	1151	c.443C>T	c.(442-444)tCc>tTc	p.S148F	NR2E1_ENST00000484978.1_3'UTR|NR2E1_ENST00000368983.3_Missense_Mutation_p.S185F	NM_003269.3	NP_003260.1	Q9Y466	NR2E1_HUMAN	nuclear receptor subfamily 2, group E, member 1	148					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(16)|prostate(1)|skin(3)	30		all_cancers(87;8.13e-05)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00866)|Colorectal(196;0.0637)		BRCA - Breast invasive adenocarcinoma(108;0.013)|Epithelial(106;0.0521)|all cancers(137;0.068)|OV - Ovarian serous cystadenocarcinoma(136;0.0689)		GCCGCGGTGTCCACCACTCCA	0.716000													7	0					0	0	0.000157383	0	0
COBL	23242	broad.mit.edu	37	7	51111375	51111375	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr7:51111375C>T	ENST00000395542.2	-	10	1541	c.1357G>A	c.(1357-1359)Ggg>Agg	p.G453R	COBL_ENST00000265136.7_Missense_Mutation_p.G371R			O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	371										NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					CTGCCAGACCCCAGGGGCAGG	0.622000													16	16					0	0	0.00074312	0	0
MYH1	4619	broad.mit.edu	37	17	10408560	10408560	+	Silent	SNP	C	C	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr17:10408560C>T	ENST00000226207.5	-	21	2449	c.2355G>A	c.(2353-2355)ctG>ctA	p.L785L	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	785	IQ.					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						TCAGCTGGGCCAGCTTCTCAT	0.438000													13	13					0	0	0.00185496	0	0
NUP155	9631	broad.mit.edu	37	5	37341336	37341336	+	Silent	SNP	A	A	G			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr5:37341336A>G	ENST00000231498.3	-	11	1305	c.1102T>C	c.(1102-1104)Tta>Cta	p.L368L	NUP155_ENST00000513532.1_Silent_p.L368L|NUP155_ENST00000381843.2_Silent_p.L309L	NM_153485.1	NP_705618.1	O75694	NU155_HUMAN	nucleoporin 155kDa	368					carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore	protein binding|structural constituent of nuclear pore|transporter activity			endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	62	all_lung(31;0.000137)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CTAAAATATAACCTAACACCT	0.413000													9	7					0	0	0.000673444	0	0
MIEF2	125170	broad.mit.edu	37	17	18166422	18166422	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr17:18166422C>T	ENST00000323019.4	+	3	381	c.170C>T	c.(169-171)cCg>cTg	p.P57L	SMCR7_ENST00000578621.1_Missense_Mutation_p.P57L|SMCR7_ENST00000578174.1_Missense_Mutation_p.P57L|SMCR7_ENST00000395703.4_Missense_Mutation_p.P57L|SMCR7_ENST00000395704.4_Missense_Mutation_p.P57L|SMCR7_ENST00000577216.1_Intron|SMCR7_ENST00000395706.2_Missense_Mutation_p.P68L	NM_001144900.1|NM_139162.3	NP_001138372.1|NP_631901.2	Q96C03	SMCR7_HUMAN		57						integral to membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|lung(4)	9	all_neural(463;0.228)					GCCACTAGCCCGCGGGATGAG	0.582000													12	23					0	0	0.000566183	0	0
PABPN1L	390748	broad.mit.edu	37	16	88932317	88932317	+	Silent	SNP	G	G	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr16:88932317G>A	ENST00000419291.2	-	2	299	c.288C>T	c.(286-288)gcC>gcT	p.A96A	PABPN1L_ENST00000427766.1_Silent_p.A96A|PABPN1L_ENST00000378358.4_Silent_p.A96A|PABPN1L_ENST00000411789.2_Silent_p.A96A	NM_001080487.2	NP_001073956.2	A6NDY0	EPAB2_HUMAN	poly(A) binding protein, nuclear 1-like (cytoplasmic)	96						cytoplasm	nucleotide binding|RNA binding			kidney(1)	1						CCTGCTCCATGGCACACACCT	0.687000													4	12					0	0	0.000602214	0	0
OR10A6	390093	broad.mit.edu	37	11	7949881	7949881	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr11:7949881G>A	ENST00000309838.2	-	1	328	c.329C>T	c.(328-330)gCt>gTt	p.A110V		NM_001004461.1	NP_001004461.1	Q8NH74	O10A6_HUMAN	olfactory receptor, family 10, subfamily A, member 6	110					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		AAAACATTCAGCCCCACCAAA	0.388000													4	8					0	0	0.00024832	0	0
S100A13	6284	broad.mit.edu	37	1	153598807	153598807	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr1:153598807G>A	ENST00000368699.1	-	4	645	c.142C>T	c.(142-144)Cat>Tat	p.H48Y	RP1-178F15.5_ENST00000497086.1_RNA|S100A13_ENST00000491177.1_5'UTR|S100A13_ENST00000392622.1_Missense_Mutation_p.H48Y|S100A13_ENST00000440685.2_Missense_Mutation_p.H48Y|S100A13_ENST00000392623.1_Missense_Mutation_p.H48Y|S100A13_ENST00000339556.4_Missense_Mutation_p.H48Y	NM_001024210.1	NP_001019381.1	Q99584	S10AD_HUMAN	S100 calcium binding protein A13	48	EF-hand 1.				interleukin-1 alpha secretion|mast cell degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade	cytosol|extracellular space|nucleus|perinuclear region of cytoplasm	calcium ion binding|copper ion binding|fibroblast growth factor 1 binding|lipid binding|protein homodimerization activity|RAGE receptor binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(1)|lung(4)	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)		Amlexanox(DB01025)	TTGAGCAGATGGGGCAACTGC	0.537000													51	150					0	0	0.000781405	0	0
FXR2	9513	broad.mit.edu	37	17	7496405	7496405	+	Silent	SNP	G	G	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr17:7496405G>A	ENST00000250113.7	-	13	1759	c.1425C>T	c.(1423-1425)acC>acT	p.T475T		NM_004860.3	NP_004851.2	P51116	FXR2_HUMAN	fragile X mental retardation, autosomal homolog 2	475						cytosolic large ribosomal subunit	protein binding|RNA binding			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)	26				READ - Rectum adenocarcinoma(115;0.17)		CTTCCCCTCGGGTTGGGGGAT	0.627000													9	17					0	0	0.000442599	0	0
SVIL	6840	broad.mit.edu	37	10	29775148	29775148	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr10:29775148G>A	ENST00000375398.2	-	28	5094	c.4645C>T	c.(4645-4647)Cca>Tca	p.P1549S	PTCHD3P1_ENST00000413405.1_RNA|SVIL_ENST00000375400.3_Missense_Mutation_p.P1123S|SVIL_ENST00000538146.1_Missense_Mutation_p.P341S|SVIL_ENST00000535393.1_Missense_Mutation_p.P463S|SVIL_ENST00000355867.4_Missense_Mutation_p.P1549S			O95425	SVIL_HUMAN	supervillin	1549	Interaction with NEB.				cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				TCTTCTTTTGGGTCTCCAGCA	0.393000													28	8					0	0	0.00178596	0	0
C17orf74	201243	broad.mit.edu	37	17	7329697	7329697	+	Silent	SNP	C	C	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr17:7329697C>T	ENST00000333870.3	+	3	461	c.387C>T	c.(385-387)cgC>cgT	p.R129R	RP11-104H15.7_ENST00000575310.1_RNA|C17orf74_ENST00000574034.1_Intron	NM_175734.4	NP_783861.3	Q0P670	CQ074_HUMAN	chromosome 17 open reading frame 74	129	Arg-rich.					integral to membrane				cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	22		Prostate(122;0.157)				gccgccgccgccgccaccgcc	0.597000													19	28					0	0	0.00188189	0	0
NEFL	4747	broad.mit.edu	37	8	24810287	24810287	+	RNA	SNP	G	G	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr8:24810287G>A	ENST00000221169.5	-	0	2263							P07196	NFL_HUMAN	neurofilament, light polypeptide						anterograde axon cargo transport|axon transport of mitochondrion|neurofilament bundle assembly|retrograde axon cargo transport|synaptic transmission	cytosol|neurofilament	identical protein binding|protein C-terminus binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)	21		Ovarian(32;0.00965)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		CTGATTTCGGGAGAATTATTC	0.393000													40	18					0	0	0.00170553	0	0
MYO9B	4650	broad.mit.edu	37	19	17283773	17283773	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr19:17283773G>A	ENST00000595618.1	+	13	2292		c.e13+1		MYO9B_ENST00000397274.2_Splice_Site|MYO9B_ENST00000594824.1_Splice_Site	NM_001130065.1|NM_004145.3	NP_001123537.1|NP_004136.2	Q13459	MYO9B_HUMAN	myosin IXB						actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						AAGGCTGCAGGTGGGAGCTGG	0.622000													4	14					0	0	0.000602214	0	0
ZNF556	80032	broad.mit.edu	37	19	2877867	2877867	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr19:2877867G>A	ENST00000586426.1	+	4	995	c.908G>A	c.(907-909)cGa>cAa	p.R303Q	ZNF556_ENST00000307635.2_Missense_Mutation_p.R304Q			Q9HAH1	ZN556_HUMAN	zinc finger protein 556	304					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(3)|skin(7)	31				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)		TCCTTTCAACGACACGTGAGA	0.507000													13	22					0	0	0.00136819	0	0
RABGAP1	23637	broad.mit.edu	37	9	125852642	125852642	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr9:125852642C>T	ENST00000373647.4	+	21	2740	c.2606C>T	c.(2605-2607)gCa>gTa	p.A869V	RABGAP1_ENST00000373643.5_Missense_Mutation_p.A208V	NM_012197.3	NP_036329.3	Q9Y3P9	RBGP1_HUMAN	RAB GTPase activating protein 1	869					cell cycle	centrosome|cytosol|microtubule associated complex	Rab GTPase activator activity|tubulin binding			breast(3)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|prostate(4)|stomach(3)|upper_aerodigestive_tract(1)	41						AGCAAGATTGCACTACGGAAG	0.473000													19	4					0	0	0.00229938	0	0
EIF3K	27335	broad.mit.edu	37	19	39125707	39125707	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr19:39125707C>T	ENST00000545173.2	+	7	650	c.574C>T	c.(574-576)Caa>Taa	p.Q192*	EIF3K_ENST00000588934.1_Intron|EIF3K_ENST00000592558.1_Nonsense_Mutation_p.Q166*|EIF3K_ENST00000248342.4_Nonsense_Mutation_p.Q192*|EIF3K_ENST00000593149.1_Nonsense_Mutation_p.Q105*|EIF3K_ENST00000538434.1_Nonsense_Mutation_p.Q105*			Q9UBQ5	EIF3K_HUMAN	eukaryotic translation initiation factor 3, subunit K	192					regulation of translational initiation	cytosol|eukaryotic translation initiation factor 3 complex|nucleus	protein binding|ribosome binding|translation initiation factor activity		EIF3K/CYP39A1(2)	central_nervous_system(1)|endometrium(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	8	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)			CATCTGTAGCCAAGAAGAGAG	0.562000											OREG0025450	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	27	27					0	0	0.00209593	0	0
AMMECR1L	83607	broad.mit.edu	37	2	128627105	128627105	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr2:128627105C>T	ENST00000272647.5	-	6	907	c.647G>A	c.(646-648)gGg>gAg	p.G216E	AMMECR1L_ENST00000393001.1_Missense_Mutation_p.G216E	NM_001199140.1	NP_001186069.1	Q6DCA0	AMERL_HUMAN	AMMECR1-like	216	AMMECR1.									central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)	9	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.07)		AATTCGAATCCCATGGACCCC	0.383000													20	26					0	0	0.00188189	0	0
C1S	716	broad.mit.edu	37	12	7177593	7177593	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr12:7177593G>A	ENST00000406697.1	+	15	2333	c.1705G>A	c.(1705-1707)Ggc>Agc	p.G569S	C1S_ENST00000402681.3_Missense_Mutation_p.G402S|C1S_ENST00000328916.3_Missense_Mutation_p.G569S|C1S_ENST00000360817.5_Missense_Mutation_p.G569S			P09871	C1S_HUMAN	complement component 1, s subcomponent	569	Peptidase S1.				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)	ACTGATCTCAGGCTGGGGCCG	0.532000													7	8					0	0	0.00198382	0	0
NCAPD2	9918	broad.mit.edu	37	12	6634836	6634836	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr12:6634836C>T	ENST00000315579.5	+	18	3101	c.2302C>T	c.(2302-2304)Cct>Tct	p.P768S	NCAPD2_ENST00000542492.1_3'UTR|NCAPD2_ENST00000545962.1_Missense_Mutation_p.P723S	NM_014865.3	NP_055680.3	Q15021	CND1_HUMAN	non-SMC condensin I complex, subunit D2	768					cell division|mitotic chromosome condensation	condensin core heterodimer|cytoplasm	histone binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	48						CGCCTGCTGTCCTCTGGAGCG	0.552000													13	15					0	0	0.00185496	0	0
RFPL2	10739	broad.mit.edu	37	22	32587083	32587083	+	Silent	SNP	G	G	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr22:32587083G>A	ENST00000400236.3	-	5	1748	c.543C>T	c.(541-543)acC>acT	p.T181T	RFPL2_ENST00000248980.4_Silent_p.T210T|RFPL2_ENST00000248983.4_Silent_p.T181T|RFPL2_ENST00000489846.1_5'UTR|RFPL2_ENST00000400237.1_Silent_p.T271T	NM_001098527.2	NP_001091997.2	O75678	RFPL2_HUMAN	ret finger protein-like 2	271	B30.2/SPRY.						zinc ion binding	p.T210T(2)|p.T181T(2)|p.T271T(2)		endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	21						CAAGCTCTGTGGTCAGCTGGA	0.587000													34	17					0	0	0.000491102	0	0
ABHD4	63874	broad.mit.edu	37	14	23072910	23072910	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr14:23072910C>A	ENST00000428304.2	+	4	636	c.566C>A	c.(565-567)gCc>gAc	p.A189D	ABHD4_ENST00000544562.1_3'UTR	NM_022060.2	NP_071343.2	Q8TB40	ABHD4_HUMAN	abhydrolase domain containing 4	189					lipid catabolic process		hydrolase activity			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(3)|lung(3)|prostate(1)	14	all_cancers(95;5.49e-05)			GBM - Glioblastoma multiforme(265;0.0153)		GCACCCCCAGCCTGGGTCAAA	0.547000													17	33					2.37509e-13	1.0568e-12	0.00152264	1	0
MFSD4	148808	broad.mit.edu	37	1	205549978	205549978	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr1:205549978C>T	ENST00000367147.4	+	3	712	c.619C>T	c.(619-621)Cca>Tca	p.P207S	MFSD4_ENST00000539267.1_Missense_Mutation_p.P207S|MFSD4_ENST00000536357.1_Intron	NM_181644.4	NP_857595.3	Q8N468	MFSD4_HUMAN	major facilitator superfamily domain containing 4	207					transmembrane transport	integral to membrane				central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0908)			CCAGACGTTCCCAGGGCTGAC	0.622000													25	15					0	0	0.00047179	0	0
TTN	7273	broad.mit.edu	37	2	179458812	179458812	+	Silent	SNP	C	C	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr2:179458812C>T	ENST00000589042.1	-	297	58532	c.58308G>A	c.(58306-58308)aaG>aaA	p.K19436K	TTN_ENST00000591111.1_Silent_p.K17795K|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_Silent_p.K10496K|TTN_ENST00000342992.6_Silent_p.K16868K|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Silent_p.K10371K|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000342175.6_Silent_p.K10563K	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	17795	Fibronectin type-III 41.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTGGTGTAGTCTTTATATGAG	0.463000													31	27					0	0	0.0024448	0	0
CYP2A13	1553	broad.mit.edu	37	19	41600331	41600331	+	Silent	SNP	C	C	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr19:41600331C>T	ENST00000330436.3	+	7	1155	c.1155C>T	c.(1153-1155)ctC>ctT	p.L385L		NM_000766.4	NP_000757.2	Q16696	CP2AD_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 13	385					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding			breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2)	42					Clomipramine(DB01242)|Nicotine(DB00184)	ATTTCTTCCTCCCTAAGGTGC	0.552000													9	17					0	0	0.000274275	0	0
FCRL6	343413	broad.mit.edu	37	1	159778988	159778988	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr1:159778988G>A	ENST00000321935.6	+	5	664	c.578G>A	c.(577-579)gGt>gAt	p.G193D	FCRL6_ENST00000368106.3_Missense_Mutation_p.G186D|FCRL6_ENST00000339348.5_Missense_Mutation_p.G186D|FCRL6_ENST00000392235.3_Intron			Q6DN72	FCRL6_HUMAN	Fc receptor-like 6	186	Ig-like C2-type 2.					integral to membrane				NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	24	all_hematologic(112;0.0597)					GCCCCTGAGGGTGGCCAGGTC	0.662000													29	9					0	0	0.000814825	0	0
AGPS	8540	broad.mit.edu	37	2	178326699	178326699	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr2:178326699C>A	ENST00000264167.4	+	9	1095	c.949C>A	c.(949-951)Cgc>Agc	p.R317S	AGPS_ENST00000409888.1_Intron	NM_003659.3	NP_003650.1	O00116	ADAS_HUMAN	alkylglycerone phosphate synthase	317	FAD-binding PCMH-type.				ether lipid biosynthetic process	peroxisomal matrix|peroxisomal membrane|plasma membrane	alkylglycerone-phosphate synthase activity|flavin adenine dinucleotide binding|oxidoreductase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0018)|Epithelial(96;0.00919)|all cancers(119;0.0358)			GGTATCTACTCGCGCATCAGG	0.333000													5	72					0.00116845	0.00507094	0.00116845	1	0
SWT1	54823	broad.mit.edu	37	1	185143988	185143988	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr1:185143988C>T	ENST00000367500.4	+	5	874	c.709C>T	c.(709-711)Cct>Tct	p.P237S	SWT1_ENST00000367501.3_Missense_Mutation_p.P237S	NM_017673.6	NP_060143.4	Q5T5J6	SWT1_HUMAN	SWT1 RNA endoribonuclease homolog (S. cerevisiae)	237										breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(16)|ovary(1)|prostate(1)|urinary_tract(1)	41						TTTCAAAATCCCTATAAAATC	0.353000													84	42					0	0	0.000781405	0	0
SLIT3	6586	broad.mit.edu	37	5	168233537	168233537	+	Silent	SNP	G	G	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr5:168233537G>A	ENST00000519560.1	-	9	1268	c.849C>T	c.(847-849)ccC>ccT	p.P283P	SLIT3_ENST00000332966.8_Silent_p.P283P|SLIT3_ENST00000404867.3_Silent_p.P283P	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053.1	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	283	LRRNT 2.				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TGCACGTGCAGGGCGAAGGGC	0.567000													17	20					0	0	0.00121646	0	0
IGHV4-31	28396	broad.mit.edu	37	14	106805454	106805454	+	RNA	SNP	G	G	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr14:106805454G>A	ENST00000438142.2	-	0	180																											GTGAGGGACAGGGTCTGTGAA	0.617000													10	30					0	0	0.000978159	0	0
LEPREL2	10536	broad.mit.edu	37	12	6948169	6948169	+	RNA	SNP	G	G	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr12:6948169G>A	ENST00000251761.8	+	0	1944				LEPREL2_ENST00000606935.1_RNA|LEPREL2_ENST00000396725.2_RNA	NM_014262.3	NP_055077.2			leprecan-like 2											breast(1)|cervix(1)|endometrium(2)|lung(6)	10						TCCAGGCTCGGGTGCGTCCTC	0.662000													13	19					0	0	0.000422831	0	0
NBEA	26960	broad.mit.edu	37	13	35738574	35738574	+	Silent	SNP	C	C	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr13:35738574C>T	ENST00000400445.3	+	24	4695	c.4161C>T	c.(4159-4161)tcC>tcT	p.S1387S	NBEA_ENST00000379939.2_Silent_p.S1387S|NBEA_ENST00000540320.1_Silent_p.S1387S|NBEA_ENST00000310336.4_Silent_p.S1387S	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	1387						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		ACCTCATTTCCCAAATGGTAG	0.353000													6	6					0	0	0.00198382	0	0
SPEG	10290	broad.mit.edu	37	2	220355508	220355508	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr2:220355508G>A	ENST00000312358.7	+	38	9347	c.9215G>A	c.(9214-9216)gGc>gAc	p.G3072D	AC053503.11_ENST00000429882.1_RNA|SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	3072	Protein kinase 2.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		CTGCTACAAGGCCTGGACTAC	0.597000													16	45					0	0	0.00074312	0	0
TDRD9	122402	broad.mit.edu	37	14	104493226	104493226	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr14:104493226C>T	ENST00000409874.4	+	28	3280	c.3232C>T	c.(3232-3234)Ctc>Ttc	p.L1078F	TDRD9_ENST00000339063.5_Missense_Mutation_p.L1078F	NM_153046.2	NP_694591.2	Q8NDG6	TDRD9_HUMAN	tudor domain containing 9	1078					cell differentiation|DNA methylation involved in gamete generation|fertilization|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	nucleus|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0768)				AAGAGACGTCCTCATCCAGCA	0.572000													14	15					0	0	0.000308642	0	0
SPEN	23013	broad.mit.edu	37	1	16255268	16255268	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr1:16255268G>A	ENST00000375759.3	+	11	2737	c.2533G>A	c.(2533-2535)Gag>Aag	p.E845K		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	845					interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		AAATGAGCGAGAGCAAAGCCC	0.463000													20	20					0	0	0.000958276	0	0
ACADS	35	broad.mit.edu	37	12	121175680	121175680	+	Silent	SNP	G	G	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr12:121175680G>A	ENST00000242592.4	+	5	664	c.513G>A	c.(511-513)cgG>cgA	p.R171R	ACADS_ENST00000411593.2_Intron	NM_000017.2	NP_000008.1	P16219	ACADS_HUMAN	acyl-CoA dehydrogenase, C-2 to C-3 short chain	171			R -> W (69% of wild-type activity; confers susceptibility to ethylmalonicaciduria; dbSNP:rs1800556).			mitochondrial matrix	butyryl-CoA dehydrogenase activity			central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(3)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)	Lung NSC(355;0.163)			NADH(DB00157)	CCACCGCCCGGGCCGAGGGCG	0.657000													50	91					0	0	0.000781405	0	0
PLXNB1	5364	broad.mit.edu	37	3	48448230	48448230	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr3:48448230C>T	ENST00000358536.4	-	36	6497	c.6228_splice	c.e36+1	p.W2076_splice	PLXNB1_ENST00000358459.4_Splice_Site_p.W1893_splice|PLXNB1_ENST00000296440.6_Splice_Site_p.W2076_splice|PLXNB1_ENST00000456774.1_Splice_Site_p.W1893_splice|PLXNB1_ENST00000448774.2_Splice_Site_p.W687_splice	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN	plexin B1	2076					axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway	extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex	GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GAGGCCTTACCCAGGACAGTT	0.592000													10	3					0	0	0.000978159	0	0
DLEC1	9940	broad.mit.edu	37	3	38135151	38135151	+	Silent	SNP	G	G	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr3:38135151G>A	ENST00000308059.6	+	12	1833	c.1812G>A	c.(1810-1812)caG>caA	p.Q604Q	DLEC1_ENST00000346219.3_Silent_p.Q604Q|DLEC1_ENST00000452631.2_Silent_p.Q604Q			Q9Y238	DLEC1_HUMAN	deleted in lung and esophageal cancer 1	604					negative regulation of cell proliferation	cytoplasm				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)		AAAAAAGCCAGCCAGACCCTG	0.473000													50	34					0	0	0.000781405	0	0
CD163	9332	broad.mit.edu	37	12	7637779	7637779	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr12:7637779C>T	ENST00000359156.4	-	11	2894	c.2692G>A	c.(2692-2694)Gga>Aga	p.G898R	CD163_ENST00000539632.1_5'UTR|CD163_ENST00000432237.2_Missense_Mutation_p.G898R|CD163_ENST00000541972.1_Missense_Mutation_p.G886R|CD163_ENST00000396620.3_Missense_Mutation_p.G931R	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	898	SRCR 8.				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						GTGTCAGGTCCTTTTGGACAC	0.542000													11	16					0	0	0.000978159	0	0
PREX2	80243	broad.mit.edu	37	8	68864761	68864761	+	Silent	SNP	C	C	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr8:68864761C>T	ENST00000288368.4	+	1	409	c.132C>T	c.(130-132)ttC>ttT	p.F44F	PREX2_ENST00000529398.1_3'UTR	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	44	DH.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						CGCTGGAGTTCCTGGTGTCGG	0.706000													4	6					0	0	0.000602214	0	0
ATCAY	85300	broad.mit.edu	37	19	3905638	3905638	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr19:3905638G>A	ENST00000450849.2	+	4	810	c.343G>A	c.(343-345)Gaa>Aaa	p.E115K	ATCAY_ENST00000398448.3_Missense_Mutation_p.E121K|ATCAY_ENST00000301260.6_Missense_Mutation_p.E115K|ATCAY_ENST00000600960.1_Missense_Mutation_p.E115K	NM_033064.4	NP_149053.1	Q86WG3	ATCAY_HUMAN	ataxia, cerebellar, Cayman type	115					transport		protein binding			breast(1)|endometrium(2)|kidney(2)|lung(2)	7		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00485)|STAD - Stomach adenocarcinoma(1328;0.183)		GAATGGCAACGAACTGGAGTG	0.577000													17	16					0	0	0.000958276	0	0
RNF213	57674	broad.mit.edu	37	17	78319648	78319648	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr17:78319648C>T	ENST00000582970.1	+	29	7656	c.7513C>T	c.(7513-7515)Cat>Tat	p.H2505Y	RNF213_ENST00000508628.2_Missense_Mutation_p.H2554Y|RNF213_ENST00000336301.6_Missense_Mutation_p.H578Y	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	0										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			CCTGTGTGATCATATGGTGGA	0.478000													43	46					0	0	0.000589545	0	0
CCDC126	90693	broad.mit.edu	37	7	23682705	23682705	+	Nonsense_Mutation	SNP	A	A	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr7:23682705A>T	ENST00000307471.3	+	4	851	c.394A>T	c.(394-396)Aga>Tga	p.R132*	CCDC126_ENST00000409765.1_Nonsense_Mutation_p.R132*|CCDC126_ENST00000410069.1_Nonsense_Mutation_p.R132*	NM_138771.3	NP_620126.2	Q96EE4	CC126_HUMAN	coiled-coil domain containing 126	132						extracellular region				endometrium(3)|kidney(1)|large_intestine(1)|ovary(1)|skin(1)	7						CACAAATAAAAGAACGAATGT	0.423000													5	28					0	0	0.000602214	0	0
ZNF195	7748	broad.mit.edu	37	11	3381483	3381483	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr11:3381483G>A	ENST00000354599.6	-	4	643	c.539C>T	c.(538-540)tCc>tTc	p.S180F	ZNF195_ENST00000005082.9_Missense_Mutation_p.S229F|ZNF195_ENST00000438262.2_3'UTR|ZNF195_ENST00000429541.2_Missense_Mutation_p.S184F|ZNF195_ENST00000528796.1_Intron|ZNF195_ENST00000343338.7_Missense_Mutation_p.S184F|ZNF195_ENST00000399602.4_Missense_Mutation_p.S252F|ZNF195_ENST00000526601.1_Missense_Mutation_p.S233F	NM_001242843.1|NM_001256825.1|NM_007152.4	NP_001229772.1|NP_001243754.1|NP_009083.2	O14628	ZN195_HUMAN	zinc finger protein 195	252	Spacer.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)	17		Medulloblastoma(188;0.00106)|Breast(177;0.00328)|all_neural(188;0.00681)|Ovarian(85;0.00965)		BRCA - Breast invasive adenocarcinoma(625;0.0361)|LUSC - Lung squamous cell carcinoma(625;0.2)		CATTTGAAAGGATTTGCCACA	0.308000													15	22					0	0	0.00074312	0	0
PLEKHH3	79990	broad.mit.edu	37	17	40822635	40822635	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr17:40822635C>T	ENST00000293349.6	-	10	1931	c.1501G>A	c.(1501-1503)Ggg>Agg	p.G501R	PLEKHH3_ENST00000456950.2_5'UTR|PLEKHH3_ENST00000412503.1_Missense_Mutation_p.G501R|PLEKHH3_ENST00000591022.1_Missense_Mutation_p.G504R			Q7Z736	PKHH3_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 3	504	FERM.				signal transduction	cytoskeleton				endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|skin(2)	13		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.14)		GGGGACAGCCCCTCAGGGTGC	0.632000													16	18					0	0	0.000422831	0	0
TRAF1	7185	broad.mit.edu	37	9	123667328	123667328	+	Silent	SNP	G	G	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr9:123667328G>A	ENST00000373887.3	-	8	3666	c.1221C>T	c.(1219-1221)ttC>ttT	p.F407F	TRAF1_ENST00000540010.1_Silent_p.F407F|TRAF1_ENST00000546084.1_Silent_p.F285F	NM_005658.4	NP_005649.1	Q13077	TRAF1_HUMAN	TNF receptor-associated factor 1	407	MATH.				apoptosis|positive regulation of NF-kappaB transcription factor activity|protein complex assembly|regulation of apoptosis|signal transduction	cytoplasm	protein binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(4)|pancreas(1)|skin(2)	22						TGCACTTGAGGAACATTGTGT	0.587000													37	3					0	0	0.00195071	0	0
CAPRIN2	65981	broad.mit.edu	37	12	30862917	30862917	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr12:30862917C>G	ENST00000251071.5	-	18	4053	c.3303G>C	c.(3301-3303)tgG>tgC	p.W1101C	CAPRIN2_ENST00000395805.2_3'UTR|CAPRIN2_ENST00000298892.5_Missense_Mutation_p.W1051C|CAPRIN2_ENST00000308433.5_Missense_Mutation_p.W767C	NM_001002259.1|NM_032156.3	NP_001002259.1|NP_115532.3	Q6IMN6	CAPR2_HUMAN	caprin family member 2	1101	C1q.				negative regulation of cell growth|negative regulation of translation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of transcription from RNA polymerase II promoter	mitochondrion|receptor complex	receptor binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	48	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					GCAGACGTAACCATATCTGGT	0.428000													15	25					0	0	0.000219431	0	0
HTT	3064	broad.mit.edu	37	4	3129048	3129048	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr4:3129048C>T	ENST00000355072.5	+	12	1605	c.1460C>T	c.(1459-1461)cCa>cTa	p.P487L		NM_002111.6	NP_002102.4	P42858	HD_HUMAN	huntingtin	487					establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		GTTTCCACTCCAGGGTCAGCA	0.522000													9	13					0	0	0.000274275	0	0
ZNF354B	117608	broad.mit.edu	37	5	178309840	178309840	+	Silent	SNP	G	G	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr5:178309840G>A	ENST00000322434.3	+	5	613	c.387G>A	c.(385-387)gaG>gaA	p.E129E		NM_058230.2	NP_478137.1	Q96LW1	Z354B_HUMAN	zinc finger protein 354B	129					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E129D(1)		breast(2)|kidney(2)|large_intestine(7)|liver(2)|lung(2)|ovary(2)|stomach(3)|urinary_tract(1)	21	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TATATGAAGAGAAATTAAAGA	0.328000													14	18					0	0	0.000308642	0	0
AOAH	313	broad.mit.edu	37	7	36552758	36552758	+	Silent	SNP	C	C	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr7:36552758C>T	ENST00000431169.1	-	22	2247	c.1947G>A	c.(1945-1947)aaG>aaA	p.K649K	AOAH_ENST00000538464.1_3'UTR|AOAH_ENST00000258749.5_3'UTR|AOAH_ENST00000535891.1_3'UTR	NM_001177506.1	NP_001170977.1	P28039	AOAH_HUMAN	acyloxyacyl hydrolase (neutrophil)	0					inflammatory response|lipid metabolic process	extracellular region	acyloxyacyl hydrolase activity|lipoprotein lipase activity			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(21)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	41						AAGAAGAGTCCTTTGGGCCTG	0.542000													16	26					0	0	0.000308642	0	0
SNX14	57231	broad.mit.edu	37	6	86281875	86281875	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr6:86281875C>T	ENST00000314673.3	-	4	573	c.397G>A	c.(397-399)Gtt>Att	p.V133I	SNX14_ENST00000369627.2_Missense_Mutation_p.V133I|SNX14_ENST00000505648.1_Missense_Mutation_p.V81I|SNX14_ENST00000513865.1_Missense_Mutation_p.V133I|SNX14_ENST00000508980.1_5'UTR|SNX14_ENST00000346348.3_Missense_Mutation_p.V133I|RP11-321N4.5_ENST00000503906.1_3'UTR	NM_153816.3	NP_722523.1	Q9Y5W7	SNX14_HUMAN	sorting nexin 14	133	PXA.				cell communication|protein transport	integral to membrane	phosphatidylinositol binding|signal transducer activity			NS(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(11)|skin(1)	22		all_cancers(76;4.83e-07)|Acute lymphoblastic leukemia(125;3.3e-08)|Prostate(29;2.55e-07)|all_hematologic(105;3.66e-05)|all_epithelial(107;0.000695)|Lung NSC(302;0.197)|all_lung(197;0.24)		BRCA - Breast invasive adenocarcinoma(108;0.0423)		GATGCATCAACCTTGGAAGAA	0.303000													37	65					0	0	0.00128727	0	0
GPR98	84059	broad.mit.edu	37	5	89938839	89938839	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr5:89938839G>A	ENST00000405460.2	+	13	2630	c.2534G>A	c.(2533-2535)aGa>aAa	p.R845K		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	845	Calx-beta 6.				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TTGCTAGCAAGATTGGATGGG	0.343000													20	35					0	0	0.00188189	0	0
DGKB	1607	broad.mit.edu	37	7	14378184	14378184	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr7:14378184C>T	ENST00000403951.2	-	23	2500	c.2081G>A	c.(2080-2082)aGg>aAg	p.R694K	DGKB_ENST00000403963.1_5'UTR|DGKB_ENST00000402815.1_Missense_Mutation_p.R693K|DGKB_ENST00000444700.2_Missense_Mutation_p.R675K|DGKB_ENST00000258767.5_Missense_Mutation_p.R694K|DGKB_ENST00000406247.3_Missense_Mutation_p.R694K|DGKB_ENST00000407950.1_Missense_Mutation_p.R686K|DGKB_ENST00000399322.3_Missense_Mutation_p.R694K			Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta 90kDa	694					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72					Phosphatidylserine(DB00144)	GACGGTGGTCCTTTTGTCAGA	0.393000													25	90					0	0	0.0024448	0	0
C4orf33	132321	broad.mit.edu	37	4	130032905	130032905	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr4:130032905C>T	ENST00000281146.4	+	6	1280	c.559C>T	c.(559-561)Ccg>Tcg	p.P187S	C4orf33_ENST00000425929.1_Missense_Mutation_p.P187S	NM_173487.2	NP_775758.2	Q8N1A6	CD033_HUMAN	chromosome 4 open reading frame 33	187										endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	10						GTGGAAACAACCGGAATCAGA	0.343000													8	13					0	0	0.000673444	0	0
CACNA1B	774	broad.mit.edu	37	9	140991032	140991032	+	Silent	SNP	C	C	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr9:140991032C>A	ENST00000277549.5	+	37	5342	c.2773C>A	c.(2773-2775)Cgg>Agg	p.R925R	CACNA1B_ENST00000371357.1_Silent_p.R1730R|CACNA1B_ENST00000371363.1_Silent_p.R1729R|CACNA1B_ENST00000277551.2_Silent_p.R1731R|CACNA1B_ENST00000371372.1_Silent_p.R1731R|CACNA1B_ENST00000371355.4_Silent_p.R1732R|CACNA1B_ENST00000371365.2_Silent_p.R95R			Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	1731					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	TGAGTTCATCCGGGTCTGGGC	0.562000													4	34					0.000602214	0.00263519	0.000602214	1	0
ACADS	35	broad.mit.edu	37	12	121175679	121175679	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr12:121175679G>A	ENST00000242592.4	+	5	663	c.512G>A	c.(511-513)cGg>cAg	p.R171Q	ACADS_ENST00000411593.2_Intron	NM_000017.2	NP_000008.1	P16219	ACADS_HUMAN	acyl-CoA dehydrogenase, C-2 to C-3 short chain	171			R -> W (69% of wild-type activity; confers susceptibility to ethylmalonicaciduria; dbSNP:rs1800556).			mitochondrial matrix	butyryl-CoA dehydrogenase activity			central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(3)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)	Lung NSC(355;0.163)			NADH(DB00157)	ACCACCGCCCGGGCCGAGGGC	0.657000													50	90					0	0	0.000781405	0	0
CELA2B	51032	broad.mit.edu	37	1	15813865	15813865	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr1:15813865G>A	ENST00000375910.3	+	7	750	c.725G>A	c.(724-726)gGt>gAt	p.G242D		NM_015849.2	NP_056933.2	P08218	CEL2B_HUMAN	chymotrypsin-like elastase family, member 2B	242	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)	8						TCGGTCCTTGGTTGCAACTAC	0.602000													38	42					0	0	0.000589545	0	0
ZNF217	7764	broad.mit.edu	37	20	52199275	52199275	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr20:52199275G>A	ENST00000371471.2	-	2	516	c.91C>T	c.(91-93)Ccg>Tcg	p.P31S	ZNF217_ENST00000302342.3_Missense_Mutation_p.P31S			O75362	ZN217_HUMAN	zinc finger protein 217	31					negative regulation of transcription, DNA-dependent	histone deacetylase complex	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)			ATCTCCATCGGACTGCCAAGA	0.458000													25	46					0	0	0.000720815	0	0
XIRP2	129446	broad.mit.edu	37	2	168105217	168105217	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr2:168105217G>A	ENST00000409195.1	+	9	7404	c.7315G>A	c.(7315-7317)Gat>Aat	p.D2439N	XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.D2439N|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.D2217N	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2264					actin cytoskeleton organization	cell junction	actin binding	p.D2439N(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						TAATAAGAACGATTTTTCCCC	0.408000													31	14					0	0	0.000509022	0	0
KIAA1109	84162	broad.mit.edu	37	4	123230601	123230601	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr4:123230601G>A	ENST00000264501.4	+	59	10607	c.10234G>A	c.(10234-10236)Gat>Aat	p.D3412N	KIAA1109_ENST00000388738.3_Missense_Mutation_p.D3412N|KIAA1109_ENST00000455637.1_Missense_Mutation_p.D3412N			Q2LD37	K1109_HUMAN	KIAA1109	3412					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						AATTCATGGGGATTTAGTGAT	0.333000													11	21					0	0	0.000308642	0	0
SCN7A	6332	broad.mit.edu	37	2	167263091	167263091	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr2:167263091G>A	ENST00000409855.1	-	25	4174	c.4048C>T	c.(4048-4050)Ctc>Ttc	p.L1350F		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	1350					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						ATCCGTGAGAGAAGTATCAGT	0.453000													8	31					0	0	0.000274275	0	0
ARMC9	80210	broad.mit.edu	37	2	232137678	232137678	+	Silent	SNP	C	C	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr2:232137678C>T	ENST00000349938.4	+	14	1415	c.1221C>T	c.(1219-1221)taC>taT	p.Y407Y	ARMC9_ENST00000483477.1_3'UTR	NM_001271466.1|NM_025139.3	NP_001258395.1|NP_079415.3	Q7Z3E5	ARMC9_HUMAN	armadillo repeat containing 9	407							binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		Renal(207;0.0112)|all_lung(227;0.0744)|all_hematologic(139;0.0749)|Acute lymphoblastic leukemia(138;0.167)|Medulloblastoma(418;0.184)|Lung NSC(271;0.205)		Epithelial(121;1.43e-10)|LUSC - Lung squamous cell carcinoma(224;0.017)|Lung(119;0.0189)		GTCGCCTCTACCTTGCCCAGA	0.468000													140	100					0	0	0.000781405	0	0
AMPD2	271	broad.mit.edu	37	1	110167981	110167981	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr1:110167981C>T	ENST00000256578.3	+	2	670	c.310C>T	c.(310-312)Ccc>Tcc	p.P104S	AMPD2_ENST00000358729.4_Intron|AMPD2_ENST00000342115.4_Missense_Mutation_p.P23S|AMPD2_ENST00000528667.1_Missense_Mutation_p.P104S|AMPD2_ENST00000528454.1_5'UTR|AMPD2_ENST00000526301.1_3'UTR	NM_004037.7	NP_004028.3	Q01433	AMPD2_HUMAN	adenosine monophosphate deaminase 2	104					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			breast(1)|large_intestine(3)|ovary(2)|skin(1)	7		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.0425)|all cancers(265;0.0884)|Colorectal(144;0.109)|Epithelial(280;0.111)|LUSC - Lung squamous cell carcinoma(189;0.228)		CCTGCCGGGCCCCGCCCCCTG	0.677000													15	19					0	0	0.000566183	0	0
PTEN	5728	broad.mit.edu	37	10	89717741	89717741	+	Nonsense_Mutation	SNP	G	G	T	rs121909228		TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr10:89717741G>T	ENST00000371953.3	+	7	2123	c.766G>T	c.(766-768)Gag>Tag	p.E256*	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	256	C2 tensin-type.				activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.R55fs*1(5)|p.N212fs*1(2)|p.Y27fs*1(2)|p.E256K(2)|p.G165_*404del(1)|p.?(1)|p.D252_K263>AKE(1)|p.K254fs*39(1)|p.E256*(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TATCAAAGTAGAGTTCTTCCA	0.373000		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			10	11					0.000978159	0.00426613	0.000978159	1	0
CASP14	23581	broad.mit.edu	37	19	15164383	15164383	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr19:15164383G>A	ENST00000427043.3	+	3	426	c.118G>A	c.(118-120)Gaa>Aaa	p.E40K	CASP14_ENST00000221740.1_Missense_Mutation_p.E40K	NM_012114.2	NP_036246.1	P31944	CASPE_HUMAN	caspase 14, apoptosis-related cysteine peptidase	40					apoptosis|cell differentiation|epidermis development|proteolysis	cytoplasm|nucleus	cysteine-type endopeptidase activity	p.E40K(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(3)	26						GGATGCTCTGGAACACATGTT	0.542000													18	33					0	0	0.00188189	0	0
FUBP1	8880	broad.mit.edu	37	1	78430359	78430359	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr1:78430359G>A	ENST00000370767.1	-	10	896	c.809C>T	c.(808-810)tCa>tTa	p.S270L	FUBP1_ENST00000436586.2_Missense_Mutation_p.S291L|FUBP1_ENST00000370768.2_Missense_Mutation_p.S270L			Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1	270					transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						TCCTATTCTTGACCCATACTC	0.343000			"""F, N"""		oligodendroglioma								31	50					0	0	0.00058488	0	0
USP6NL	9712	broad.mit.edu	37	10	11505081	11505081	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr10:11505081G>A	ENST00000379237.1	-	15	2240	c.1846C>T	c.(1846-1848)Ccg>Tcg	p.P616S	USP6NL_ENST00000277575.5_Missense_Mutation_p.P633S	NM_014688.2	NP_055503.1	Q92738	US6NL_HUMAN	USP6 N-terminal like	616						intracellular	Rab GTPase activator activity			endometrium(3)|kidney(2)|large_intestine(6)|lung(18)|prostate(1)|skin(1)|urinary_tract(1)	32						AGCTGGGACGGATATCGTGCA	0.527000													17	9					0	0	0.000958276	0	0
LEPREL2	10536	broad.mit.edu	37	12	6948168	6948168	+	RNA	SNP	G	G	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr12:6948168G>A	ENST00000251761.8	+	0	1943				LEPREL2_ENST00000606935.1_RNA|LEPREL2_ENST00000396725.2_RNA	NM_014262.3	NP_055077.2			leprecan-like 2											breast(1)|cervix(1)|endometrium(2)|lung(6)	10						CTCCAGGCTCGGGTGCGTCCT	0.657000													12	19					0	0	0.000308642	0	0
PLEKHH3	79990	broad.mit.edu	37	17	40822634	40822634	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr17:40822634C>T	ENST00000293349.6	-	10	1932	c.1502G>A	c.(1501-1503)gGg>gAg	p.G501E	PLEKHH3_ENST00000456950.2_5'UTR|PLEKHH3_ENST00000412503.1_Missense_Mutation_p.G501E|PLEKHH3_ENST00000591022.1_Missense_Mutation_p.G504E			Q7Z736	PKHH3_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 3	504	FERM.				signal transduction	cytoskeleton				endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|skin(2)	13		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.14)		TGGGGACAGCCCCTCAGGGTG	0.627000													16	20					0	0	0.000422831	0	0
FSIP2	401024	broad.mit.edu	37	2	186672961	186672961	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr2:186672961G>A	ENST00000343098.5	+	17	19195	c.19195G>A	c.(19195-19197)Gaa>Aaa	p.E6399K	FSIP2_ENST00000424728.1_Missense_Mutation_p.E6310K	NM_173651.2	NP_775922.2			fibrous sheath interacting protein 2											NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						ATCAAATTCAGAATTAGTTCT	0.318000													7	15					0	0	0.00198382	0	0
SOCS5	9655	broad.mit.edu	37	2	46986148	46986148	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr2:46986148C>G	ENST00000306503.5	+	2	651	c.479C>G	c.(478-480)tCt>tGt	p.S160C	SOCS5_ENST00000394861.2_Missense_Mutation_p.S160C	NM_014011.4	NP_054730.1	O75159	SOCS5_HUMAN	suppressor of cytokine signaling 5	160					cell growth|cytokine-mediated signaling pathway|intracellular signal transduction|negative regulation of signal transduction|negative regulation of T-helper 2 cell differentiation|positive regulation of T-helper 1 cell differentiation|regulation of growth					breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(9)|ovary(2)	22		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.114)			GGCGTAAGTTCTGTACACGAC	0.468000													34	21					0	0	0.00058488	0	0
UBTF	7343	broad.mit.edu	37	17	42284846	42284846	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr17:42284846C>T	ENST00000527034.1	-	19	2211	c.2030G>A	c.(2029-2031)aGg>aAg	p.R677K	UBTF_ENST00000533177.1_Silent_p.E678E|UBTF_ENST00000529383.1_Silent_p.E715E|UBTF_ENST00000526094.1_Silent_p.E678E|UBTF_ENST00000436088.1_Silent_p.E715E|UBTF_ENST00000393606.3_Silent_p.E678E|UBTF_ENST00000343638.5_Silent_p.E678E|CTB-175E5.7_ENST00000586560.1_RNA|UBTF_ENST00000302904.4_Silent_p.E715E			P17480	UBF1_HUMAN	upstream binding transcription factor, RNA polymerase I	536	Asp/Glu/Ser-rich (acidic).				positive regulation of transcription from RNA polymerase I promoter|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleolus|nucleoplasm	DNA binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(10)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.114)		CGCTCTCGTCCTCGCTGCTGG	0.597000													9	11					0	0	0.000219431	0	0
NEK9	91754	broad.mit.edu	37	14	75587855	75587855	+	Silent	SNP	G	G	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr14:75587855G>A	ENST00000238616.5	-	3	578	c.420C>T	c.(418-420)atC>atT	p.I140I		NM_033116.4	NP_149107.4	Q8TD19	NEK9_HUMAN	NIMA-related kinase 9	140	Protein kinase.				cell division|mitosis	mitochondrion|nucleus	ATP binding|metal ion binding|protein kinase binding|protein serine/threonine kinase activity			endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00718)		TCTGACGAAGGATTTTGTCAT	0.368000													19	29					0	0	0.000375601	0	0
FARS2	10667	broad.mit.edu	37	6	5431349	5431349	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr6:5431349G>A	ENST00000324331.6	+	4	1184	c.848G>A	c.(847-849)gGa>gAa	p.G283E	FARS2_ENST00000274680.4_Missense_Mutation_p.G283E			O95363	SYFM_HUMAN	phenylalanyl-tRNA synthetase 2, mitochondrial	283					phenylalanyl-tRNA aminoacylation|tRNA processing	mitochondrial matrix|soluble fraction	ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|tRNA binding	p.G283E(1)		endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|prostate(1)|stomach(2)	15	Ovarian(93;0.11)	all_hematologic(90;0.0104)			L-Phenylalanine(DB00120)	AACTTTCATGGAGAATGGCTG	0.418000													50	50					0	0	0.000781405	0	0
DPY19L2P3	442524	broad.mit.edu	37	7	29727054	29727054	+	RNA	SNP	C	C	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr7:29727054C>T	ENST00000602980.1	+	0	872					NR_036482.1																						TGTAAACATTCATAAACATTT	0.294000													45	48					0	0	0.000781405	0	0
CEACAM19	56971	broad.mit.edu	37	19	45179592	45179592	+	Silent	SNP	C	C	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr19:45179592C>T	ENST00000358777.4	+	3	954	c.474C>T	c.(472-474)atC>atT	p.I158I	CEACAM19_ENST00000480278.1_3'UTR|CTB-171A8.1_ENST00000590796.1_RNA|CEACAM19_ENST00000403660.3_Silent_p.I158I	NM_001127893.1|NM_020219.3	NP_001121365.1|NP_064604.2	Q7Z692	CEA19_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 19	158						integral to membrane				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)	11	Lung NSC(12;0.00308)|all_lung(12;0.00806)	Prostate(69;0.0376)				ACGCTGGGATCCTGGCGGCCA	0.577000													48	103					0	0	0.000781405	0	0
MAATS1	89876	broad.mit.edu	37	3	119422020	119422020	+	Silent	SNP	G	G	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr3:119422020G>A	ENST00000273390.5	+	1	152	c.75G>A	c.(73-75)tcG>tcA	p.S25S	MAATS1_ENST00000463700.1_Silent_p.S25S	NM_033364.3	NP_203528.2			MYCBP-associated, testis expressed 1																		GGGAGAGGTCGCGGGCTGGGA	0.642000													3	2					0	0	6.4e-05	0	0
FKBP9	11328	broad.mit.edu	37	7	33014933	33014933	+	Silent	SNP	G	G	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr7:33014933G>A	ENST00000242209.4	+	3	676	c.507G>A	c.(505-507)gtG>gtA	p.V169V	FKBP9_ENST00000538443.1_Silent_p.V31V|FKBP9_ENST00000538336.1_Silent_p.V222V|AVL9_ENST00000404479.1_Intron	NM_007270.3	NP_009201.2	O95302	FKBP9_HUMAN	FK506 binding protein 9, 63 kDa	169	PPIase FKBP-type 2.				protein folding	endoplasmic reticulum|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity			central_nervous_system(13)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	39			GBM - Glioblastoma multiforme(11;0.0156)			CTGATTTTGTGAGGTACCACT	0.473000													10	45					0	0	0.000978159	0	0
LIPF	8513	broad.mit.edu	37	10	90429622	90429622	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr10:90429622C>T	ENST00000394375.3	+	6	594	c.481C>T	c.(481-483)Cca>Tca	p.P161S	LIPF_ENST00000355843.2_Missense_Mutation_p.P118S|LIPF_ENST00000238983.4_Missense_Mutation_p.P151S	NM_001198829.1	NP_001185758.1	P07098	LIPG_HUMAN	lipase, gastric	151			T -> A (in dbSNP:rs814628).		lipid catabolic process|triglyceride metabolic process	extracellular region	lipid binding|triglyceride lipase activity			NS(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(6)	13		Colorectal(252;0.0161)		Colorectal(12;3.91e-05)|COAD - Colon adenocarcinoma(12;5.43e-05)		ATATGACCTTCCAGCCACAAT	0.383000													36	14					0	0	0.00128727	0	0
SPTAN1	6709	broad.mit.edu	37	9	131329157	131329157	+	Silent	SNP	C	C	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr9:131329157C>T	ENST00000372739.3	+	2	248	c.138C>T	c.(136-138)ttC>ttT	p.F46F	SPTAN1_ENST00000358161.5_Silent_p.F46F|SPTAN1_ENST00000372731.4_Silent_p.F46F	NM_001130438.2	NP_001123910.1	Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	46					actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						CCTATCGATTCCAGTTCTTTC	0.473000													60	7					0	0	0.000781405	0	0
JARID2	3720	broad.mit.edu	37	6	15501623	15501623	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr6:15501623C>T	ENST00000341776.2	+	8	2675	c.2431C>T	c.(2431-2433)Cac>Tac	p.H811Y	JARID2_ENST00000541660.1_Missense_Mutation_p.H773Y|JARID2_ENST00000474854.1_3'UTR|JARID2_ENST00000397311.3_Missense_Mutation_p.H639Y	NM_004973.3	NP_004964.2	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2	811					central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent		chromatin binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				CAATGACTTCCACAAGTGCAT	0.587000													17	25					0	0	0.00121646	0	0
TTPAL	79183	broad.mit.edu	37	20	43108823	43108823	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr20:43108823C>T	ENST00000372904.3	+	3	327	c.184C>T	c.(184-186)Cgt>Tgt	p.R62C	TTPAL_ENST00000262605.4_Missense_Mutation_p.R62C|TTPAL_ENST00000372906.2_Missense_Mutation_p.R62C	NM_024331.4	NP_077307.2	Q9BTX7	TTPAL_HUMAN	tocopherol (alpha) transfer protein-like	62						intracellular	transporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|ovary(2)|skin(5)	18						GCAGGCCCTTCGTGACATGGT	0.592000													15	9					0	0	0.000422831	0	0
ZNF135	7694	broad.mit.edu	37	19	58578659	58578659	+	Silent	SNP	C	C	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr19:58578659C>T	ENST00000506786.1	+	5	1235	c.681C>T	c.(679-681)ccC>ccT	p.P227P	ZNF135_ENST00000401053.4_Silent_p.P293P|ZNF135_ENST00000359978.6_Silent_p.P281P|ZNF135_ENST00000439855.2_Silent_p.P269P|ZNF135_ENST00000313434.5_Silent_p.P269P|ZNF135_ENST00000511556.1_Silent_p.P281P			B4DHH9	B4DHH9_HUMAN	zinc finger protein 135	281					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(26)|ovary(1)|skin(1)|urinary_tract(1)	41		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)		GGGAGAAACCCTATAAATGCA	0.493000													15	28					0	0	0.000308642	0	0
MTNR1A	4543	broad.mit.edu	37	4	187455461	187455461	+	Silent	SNP	G	G	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr4:187455461G>A	ENST00000307161.5	-	2	636	c.435C>T	c.(433-435)ctC>ctT	p.L145L	RP11-215A19.2_ENST00000509111.1_Intron	NM_005958.3	NP_005949.1	P48039	MTR1A_HUMAN	melatonin receptor 1A	145					circadian rhythm|G-protein signaling, coupled to cyclic nucleotide second messenger|mating behavior	integral to plasma membrane	melatonin receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	14		all_cancers(14;6.39e-56)|all_epithelial(14;1.48e-41)|all_lung(41;2.45e-15)|Lung NSC(41;7.26e-15)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00335)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|Renal(120;0.0183)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;7.63e-12)|BRCA - Breast invasive adenocarcinoma(30;6.68e-07)|GBM - Glioblastoma multiforme(59;3.44e-05)|LUSC - Lung squamous cell carcinoma(40;0.000106)|STAD - Stomach adenocarcinoma(60;0.000279)|READ - Rectum adenocarcinoma(43;0.159)	Melatonin(DB01065)|Ramelteon(DB00980)	GCACGTAGCAGAGGGAGTTCT	0.572000													9	22					0	0	0.000274275	0	0
SLC16A14	151473	broad.mit.edu	37	2	230911218	230911218	+	Silent	SNP	G	G	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr2:230911218G>A	ENST00000295190.4	-	4	1082	c.624C>T	c.(622-624)ctC>ctT	p.L208L		NM_152527.4	NP_689740.2	Q7RTX9	MOT14_HUMAN	solute carrier family 16, member 14	208						integral to membrane|plasma membrane	symporter activity			NS(1)|cervix(1)|endometrium(7)|large_intestine(7)|lung(3)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.149)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;7.31e-13)|all cancers(144;5.1e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00948)		GGGGCCTCATGAGCGCCCCAC	0.552000													15	40					0	0	0.000308642	0	0
ZNF592	9640	broad.mit.edu	37	15	85327175	85327175	+	Silent	SNP	G	G	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr15:85327175G>A	ENST00000299927.3	+	1	1291	c.1269G>A	c.(1267-1269)ggG>ggA	p.G423G	ZNF592_ENST00000560079.2_Silent_p.G423G			Q92610	ZN592_HUMAN	zinc finger protein 592	423					cell death|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(143;0.0587)			AGATGCCAGGGGATGAGGTGC	0.597000													21	11					0	0	0.00047179	0	0
EFHC1	114327	broad.mit.edu	37	6	52344579	52344579	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr6:52344579C>A	ENST00000371068.5	+	9	1737	c.1634C>A	c.(1633-1635)gCa>gAa	p.A545E	EFHC1_ENST00000433625.2_Missense_Mutation_p.A454E|EFHC1_ENST00000538167.1_Missense_Mutation_p.A526E	NM_018100.3	NP_060570.2	Q5JVL4	EFHC1_HUMAN	EF-hand domain (C-terminal) containing 1	545						axoneme|neuronal cell body	calcium ion binding|protein C-terminus binding			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	27	Lung NSC(77;0.109)					GCTCCAGAAGCAGAAAGGTGT	0.428000													13	21					4.36969e-10	1.93452e-09	0.00185496	1	0
LMO7	4008	broad.mit.edu	37	13	76427446	76427446	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr13:76427446G>A	ENST00000357063.3	+	29	5999	c.4739G>A	c.(4738-4740)gGt>gAt	p.G1580D	LMO7_ENST00000526202.1_Missense_Mutation_p.G1172D|LMO7_ENST00000341547.4_Missense_Mutation_p.G1246D|LMO7_ENST00000321797.8_Missense_Mutation_p.G1295D|LMO7_ENST00000377534.3_Missense_Mutation_p.G1580D|LMO7_ENST00000465261.2_Missense_Mutation_p.G1295D			Q8WWI1	LMO7_HUMAN	LIM domain 7	1580						cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		TCCACCACAGGTGTGGCCACC	0.612000													4	13					0	0	0.00024832	0	0
ZSCAN29	146050	broad.mit.edu	37	15	43654012	43654012	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr15:43654012G>A	ENST00000562072.1	-	5	1603	c.1604C>T	c.(1603-1605)gCa>gTa	p.A535V	ZSCAN29_ENST00000396976.2_Silent_p.G606G|ZSCAN29_ENST00000568898.1_Silent_p.G216G|ZSCAN29_ENST00000396972.1_Silent_p.G217G			Q8IWY8	ZSC29_HUMAN	zinc finger and SCAN domain containing 29	0					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(7)|skin(2)	24		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.97e-07)		CACTCTCATTGCCTTTACCCT	0.433000													34	60					0	0	0.000814825	0	0
BFSP1	631	broad.mit.edu	37	20	17475605	17475605	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr20:17475605G>T	ENST00000377873.3	-	8	1151	c.1112C>A	c.(1111-1113)cCa>cAa	p.P371Q	BFSP1_ENST00000536626.1_Missense_Mutation_p.P232Q|BFSP1_ENST00000377868.2_Missense_Mutation_p.P246Q|BFSP1_ENST00000544874.1_Missense_Mutation_p.P232Q	NM_001195.3	NP_001186.1	Q12934	BFSP1_HUMAN	beaded filament structural protein 1, filensin	371	Tail.					cytoplasm|intermediate filament|membrane	structural constituent of cytoskeleton|structural constituent of eye lens			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)|stomach(1)	18						TTTTCTCCTTGGAACATTCTT	0.418000													7	137					0.000442599	0.00193995	0.000442599	1	0
TYK2	7297	broad.mit.edu	37	19	10479086	10479086	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr19:10479086G>A	ENST00000525621.1	-	4	683	c.202C>T	c.(202-204)Cct>Tct	p.P68S	TYK2_ENST00000529370.1_Missense_Mutation_p.P68S|TYK2_ENST00000524462.1_Intron|TYK2_ENST00000264818.6_Missense_Mutation_p.P68S	NM_003331.4	NP_003322.3	P29597	TYK2_HUMAN	tyrosine kinase 2	68	FERM.				intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			AAGCAAGGAGGAGTGATACCT	0.547000													15	36					0	0	0.000308642	0	0
MLPH	79083	broad.mit.edu	37	2	238449075	238449075	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr2:238449075A>G	ENST00000264605.3	+	10	1483	c.1189A>G	c.(1189-1191)Agt>Ggt	p.S397G	MLPH_ENST00000468178.1_3'UTR|MLPH_ENST00000445024.2_Missense_Mutation_p.S397G|MLPH_ENST00000409373.1_Missense_Mutation_p.S329G|MLPH_ENST00000338530.4_Missense_Mutation_p.S369G|MLPH_ENST00000410032.1_Missense_Mutation_p.S254G	NM_024101.5	NP_077006.1	Q9BV36	MELPH_HUMAN	melanophilin	397							metal ion binding			NS(1)|breast(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(11)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1)	25		Breast(86;0.000381)|Renal(207;0.000966)|Ovarian(221;0.0695)|all_hematologic(139;0.095)|all_lung(227;0.17)|Melanoma(123;0.203)		Epithelial(121;1.17e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.02e-10)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.15e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000439)|Lung(119;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0316)		CAGCAACGTCAGTGACCAGGA	0.627000													24	16					0	0	0.000586117	0	0
ZNF385D	79750	broad.mit.edu	37	3	21467001	21467001	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr3:21467001C>T	ENST00000281523.2	-	6	1353	c.835G>A	c.(835-837)Gaa>Aaa	p.E279K		NM_024697.2	NP_078973.1	Q9H6B1	Z385D_HUMAN	zinc finger protein 385D	279						nucleus	nucleic acid binding|zinc ion binding			NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						AGTTGCGTTTCCGAGTTGACG	0.413000													34	32					0	0	0.00170553	0	0
DNM1P47	100216544	broad.mit.edu	37	15	102304776	102304776	+	RNA	SNP	G	G	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr15:102304776G>A	ENST00000561463.1	+	0	12822																											GCGGCGTGACGAGACTCGCGT	0.592000													4	13					0	0	0.00024832	0	0
IMPG1	3617	broad.mit.edu	37	6	76660470	76660470	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr6:76660470G>A	ENST00000369950.3	-	13	1822	c.1633C>T	c.(1633-1635)Cat>Tat	p.H545Y	IMPG1_ENST00000369963.3_3'UTR	NM_001563.2	NP_001554.2	Q17R60	IMPG1_HUMAN	interphotoreceptor matrix proteoglycan 1	545					visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity			breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				TCCAAGAAATGATCTGGGACA	0.488000													16	21					0	0	0.000958276	0	0
VWC2L	402117	broad.mit.edu	37	2	215279272	215279272	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr2:215279272C>T	ENST00000312504.5	+	2	1157	c.355C>T	c.(355-357)Cac>Tac	p.H119Y	AC107218.3_ENST00000412896.1_RNA|VWC2L_ENST00000427124.1_Missense_Mutation_p.H119Y|AC107218.3_ENST00000437883.1_RNA	NM_001080500.2	NP_001073969.1	B2RUY7	VWC2L_HUMAN	von Willebrand factor C domain containing protein 2-like	119	VWFC 2.					extracellular region				breast(1)|endometrium(1)|large_intestine(3)|lung(10)|prostate(1)	16						CTGTGAATATCACGGGAAAAA	0.373000													14	8					0	0	0.00185496	0	0
UBR2	23304	broad.mit.edu	37	6	42613219	42613219	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr6:42613219C>T	ENST00000372901.1	+	21	2558	c.2300C>T	c.(2299-2301)cCt>cTt	p.P767L	UBR2_ENST00000372899.1_Missense_Mutation_p.P767L|UBR2_ENST00000372883.3_Missense_Mutation_p.P271L			Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin 2	767					cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade	nucleus|plasma membrane	leucine binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			AGATTTAGTCCTGGAGTTGGA	0.343000													28	47					0	0	0.00127121	0	0
GRIN3A	116443	broad.mit.edu	37	9	104449164	104449164	+	Missense_Mutation	SNP	C	C	T	rs145326290	by1000genomes	TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr9:104449164C>T	ENST00000361820.3	-	2	1618	c.1018G>A	c.(1018-1020)Gaa>Aaa	p.E340K		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	340					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			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)	GTTGTAATTTCGAAAATCCGC	0.517000													21	4					0	0	0.00188189	0	0
PCDHB2	56133	broad.mit.edu	37	5	140475705	140475705	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr5:140475705C>T	ENST00000194155.4	+	1	1479	c.1331C>T	c.(1330-1332)tCc>tTc	p.S444F		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN		444	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GTGCTGGTCTCCGACGTCAAT	0.607000													26	46					0	0	0.00127121	0	0
SLC13A5	284111	broad.mit.edu	37	17	6604350	6604350	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr17:6604350C>T	ENST00000433363.2	-	6	1045	c.812G>A	c.(811-813)tGg>tAg	p.W271*	SLC13A5_ENST00000381074.4_Nonsense_Mutation_p.W228*|SLC13A5_ENST00000293800.6_Nonsense_Mutation_p.W254*|SLC13A5_ENST00000573648.1_Nonsense_Mutation_p.W271*	NM_177550.3	NP_808218.1	Q86YT5	S13A5_HUMAN	solute carrier family 13 (sodium-dependent citrate transporter), member 5	271						integral to membrane	citrate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|prostate(5)|skin(3)|urinary_tract(1)	26						AAACTGGAGCCACAGCCAGGC	0.473000													18	24					0	0	0.00121646	0	0
OR6A2	8590	broad.mit.edu	37	11	6816647	6816647	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr11:6816647G>A	ENST00000332601.3	-	1	481	c.293C>T	c.(292-294)tCc>tTc	p.S98F		NM_003696.2	NP_003687.2	O95222	OR6A2_HUMAN	olfactory receptor, family 6, subfamily A, member 2	98					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(4)|pancreas(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	29		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		TCCCTCAAAGGAGATTAGCTG	0.473000													12	14					0	0	0.00185496	0	0
SGSM1	129049	broad.mit.edu	37	22	25301148	25301148	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr22:25301148G>A	ENST00000400358.4	+	21	2869	c.2812G>A	c.(2812-2814)Gat>Aat	p.D938N	SGSM1_ENST00000400359.4_Missense_Mutation_p.D993N	NM_001098497.1|NM_001098498.1	NP_001091967.1|NP_001091968.1	Q2NKQ1	SGSM1_HUMAN	small G protein signaling modulator 1	993	Rab-GAP TBC.					Golgi apparatus	Rab GTPase activator activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						GGTCATTCTGGATGATGGTGA	0.498000													36	94					0	0	0.00170553	0	0
UNC79	57578	broad.mit.edu	37	14	94046521	94046521	+	Silent	SNP	G	G	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr14:94046521G>A	ENST00000553484.1	+	19	2614	c.2460G>A	c.(2458-2460)acG>acA	p.T820T	UNC79_ENST00000256339.4_Silent_p.T643T|UNC79_ENST00000393151.2_Silent_p.T820T|UNC79_ENST00000555664.1_Silent_p.T820T			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	820						integral to membrane				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						ATGGAATCACGATGGGTTTAG	0.418000													19	30					0	0	0.000720815	0	0
EIF4G1	1981	broad.mit.edu	37	3	184035255	184035255	+	Silent	SNP	C	C	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr3:184035255C>T	ENST00000342981.4	+	4	708	c.294C>T	c.(292-294)gcC>gcT	p.A98A	EIF4G1_ENST00000411531.1_Silent_p.A58A|EIF4G1_ENST00000392537.2_Silent_p.A11A|EIF4G1_ENST00000427845.1_Silent_p.A11A|EIF4G1_ENST00000350481.5_Intron|EIF4G1_ENST00000352767.3_Silent_p.A105A|EIF4G1_ENST00000319274.6_Silent_p.A98A|EIF4G1_ENST00000424196.1_Silent_p.A105A|EIF4G1_ENST00000382330.3_Silent_p.A105A|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000414031.1_Silent_p.A58A|EIF4G1_ENST00000346169.2_Silent_p.A98A	NM_182917.4	NP_886553.3	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	98					insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CCTACCCAGCCTCCCAGGGGG	0.612000													28	29					0	0	0.00178596	0	0
ANKRD11	29123	broad.mit.edu	37	16	89346549	89346549	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr16:89346549C>T	ENST00000301030.4	-	9	6861	c.6401G>A	c.(6400-6402)gGg>gAg	p.G2134E	ANKRD11_ENST00000378330.2_Missense_Mutation_p.G2134E	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	2134	Pro-rich.					nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		GGAGAAGGGCCCCAGGTCCAG	0.667000													4	5					0	0	0.00024832	0	0
CEACAM1	634	broad.mit.edu	37	19	43031325	43031325	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr19:43031325G>A	ENST00000161559.6	-	2	426	c.292C>T	c.(292-294)Cga>Tga	p.R98*	CEACAM1_ENST00000403461.1_Nonsense_Mutation_p.R98*|CEACAM1_ENST00000308072.4_Nonsense_Mutation_p.R58*|CEACAM1_ENST00000599389.1_Nonsense_Mutation_p.R98*|CEACAM1_ENST00000358394.3_Nonsense_Mutation_p.R98*|CEACAM1_ENST00000352591.5_Nonsense_Mutation_p.R98*|CEACAM1_ENST00000351134.3_Nonsense_Mutation_p.R98*|LIPE-AS1_ENST00000594688.1_RNA|LIPE-AS1_ENST00000594624.2_RNA|CEACAM1_ENST00000403444.3_Nonsense_Mutation_p.R98*	NM_001712.4	NP_001703.2	P13688	CEAM1_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 1 (biliary glycoprotein)	98	Ig-like V-type.				angiogenesis|cell migration|homophilic cell adhesion|integrin-mediated signaling pathway	extracellular region|integral to plasma membrane|membrane fraction				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	17		Prostate(69;0.00682)		GBM - Glioblastoma multiforme(486;0.00148)	Arcitumomab(DB00113)	ATTGTCTCTCGACCGCTGTTT	0.483000													47	77					0	0	0.000781405	0	0
AMPD1	270	broad.mit.edu	37	1	115229505	115229505	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr1:115229505G>A	ENST00000369538.3	-	3	376	c.329C>T	c.(328-330)aCt>aTt	p.T110I	AMPD1_ENST00000353928.6_Missense_Mutation_p.T81I|AMPD1_ENST00000520113.2_Missense_Mutation_p.T114I	NM_001172626.1	NP_001166097.1	P23109	AMPD1_HUMAN	adenosine monophosphate deaminase 1	81					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	Adenosine monophosphate(DB00131)	CAAATTAACAGTCTTCCGTCC	0.388000													18	31					0	0	0.000375601	0	0
RTN1	6252	broad.mit.edu	37	14	60194363	60194363	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr14:60194363C>T	ENST00000267484.5	-	3	1374	c.1039G>A	c.(1039-1041)Ggg>Agg	p.G347R		NM_021136.2	NP_066959.1	Q16799	RTN1_HUMAN	reticulon 1	347					neuron differentiation	integral to endoplasmic reticulum membrane	signal transducer activity			central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		CTGCCTTTCCCCTGGGATTCT	0.572000													10	12					0	0	0.00185496	0	0
GOLIM4	27333	broad.mit.edu	37	3	167745580	167745580	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr3:167745580G>A	ENST00000470487.1	-	12	2248	c.1559C>T	c.(1558-1560)cCa>cTa	p.P520L	GOLIM4_ENST00000309027.4_Missense_Mutation_p.P492L	NM_014498.3	NP_055313.1	O00461	GOLI4_HUMAN	golgi integral membrane protein 4	520	Glu-rich.				transport	cis-Golgi network|endocytic vesicle|endosome membrane|Golgi cisterna membrane|Golgi lumen|integral to membrane|nucleus				breast(5)|endometrium(2)|large_intestine(8)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						TCTATTACCTGGATCTCCTTC	0.458000													37	115					0	0	0.000781405	0	0
CYYR1	116159	broad.mit.edu	37	21	27840879	27840879	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr21:27840879G>A	ENST00000299340.4	-	4	749	c.406C>T	c.(406-408)Cca>Tca	p.P136S	CYYR1_ENST00000435845.2_3'UTR|AP001597.1_ENST00000357401.3_RNA|AP001596.6_ENST00000421771.1_RNA|AP001596.6_ENST00000444306.1_RNA|AP001596.6_ENST00000429340.1_RNA|AP001597.1_ENST00000414486.1_RNA	NM_052954.2	NP_443186.1	Q96J86	CYYR1_HUMAN	cysteine/tyrosine-rich 1	136						integral to membrane				large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	15						GGACCCTGTGGGGTGGGGGAG	0.537000													16	17					0	0	0.000958276	0	0
H2AFJ	55766	broad.mit.edu	37	12	14927698	14927698	+	Silent	SNP	G	G	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr12:14927698G>A	ENST00000544848.1	+	1	429	c.294G>A	c.(292-294)ctG>ctA	p.L98L		NM_177925.2	NP_808760.1	Q9BTM1	H2AJ_HUMAN	H2A histone family, member J	98					nucleosome assembly	nucleosome|nucleus	DNA binding			NS(1)|central_nervous_system(1)|kidney(1)|ovary(1)|skin(1)	5						ACAAGCTGCTGGGCAAAGTGA	0.597000													20	30					0	0	0.000586117	0	0
SNX14	57231	broad.mit.edu	37	6	86281876	86281876	+	Silent	SNP	C	C	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr6:86281876C>T	ENST00000314673.3	-	4	572	c.396G>A	c.(394-396)aaG>aaA	p.K132K	SNX14_ENST00000369627.2_Silent_p.K132K|SNX14_ENST00000505648.1_Silent_p.K80K|SNX14_ENST00000513865.1_Silent_p.K132K|SNX14_ENST00000508980.1_5'UTR|SNX14_ENST00000346348.3_Silent_p.K132K|RP11-321N4.5_ENST00000503906.1_3'UTR	NM_153816.3	NP_722523.1	Q9Y5W7	SNX14_HUMAN	sorting nexin 14	132	PXA.				cell communication|protein transport	integral to membrane	phosphatidylinositol binding|signal transducer activity			NS(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(11)|skin(1)	22		all_cancers(76;4.83e-07)|Acute lymphoblastic leukemia(125;3.3e-08)|Prostate(29;2.55e-07)|all_hematologic(105;3.66e-05)|all_epithelial(107;0.000695)|Lung NSC(302;0.197)|all_lung(197;0.24)		BRCA - Breast invasive adenocarcinoma(108;0.0423)		ATGCATCAACCTTGGAAGAAA	0.303000													35	66					0	0	0.00111076	0	0
IGHV5-51	28388	broad.mit.edu	37	14	107034769	107034769	+	RNA	SNP	C	C	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr14:107034769C>T	ENST00000390626.2	-	0	369																											GGCCTTCAGGCTGCTCCACTG	0.582000													57	35					0	0	0.000781405	0	0
ZSCAN29	146050	broad.mit.edu	37	15	43653764	43653764	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr15:43653764C>T	ENST00000396976.2	-	5	2200	c.2066G>A	c.(2065-2067)cGg>cAg	p.R689Q	ZSCAN29_ENST00000568898.1_Missense_Mutation_p.R299Q|ZSCAN29_ENST00000396972.1_Missense_Mutation_p.R300Q|ZSCAN29_ENST00000562072.1_3'UTR	NM_152455.3	NP_689668.3	Q8IWY8	ZSC29_HUMAN	zinc finger and SCAN domain containing 29	689					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(7)|skin(2)	24		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.97e-07)		TCGTGCACTCCGACTGAAGCT	0.433000													18	21					0	0	0.000566183	0	0
LGI3	203190	broad.mit.edu	37	8	22011507	22011507	+	Silent	SNP	G	G	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr8:22011507G>A	ENST00000306317.2	-	5	757	c.468C>T	c.(466-468)ttC>ttT	p.F156F	LGI3_ENST00000424267.2_Silent_p.F132F	NM_139278.2	NP_644807.1	Q8N145	LGI3_HUMAN	leucine-rich repeat LGI family, member 3	156					exocytosis	cell junction|extracellular region|synaptic vesicle|synaptosome				endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	17				Colorectal(74;0.00189)|COAD - Colon adenocarcinoma(73;0.0612)|READ - Rectum adenocarcinoma(644;0.0999)		CCAGGGGCCGGAAGATGTCTC	0.577000													25	57					0	0	0.000878237	0	0
NUP205	23165	broad.mit.edu	37	7	135292009	135292009	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr7:135292009C>A	ENST00000285968.6	+	22	3111	c.3085C>A	c.(3085-3087)Cct>Act	p.P1029T		NM_015135.2	NP_055950.1	Q92621	NU205_HUMAN	nucleoporin 205kDa	1029					carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						GTTAGGTTGCCCTCGGACATG	0.438000													5	41					0.000442599	0.00193995	0.000442599	1	0
SEZ6L2	26470	broad.mit.edu	37	16	29884037	29884037	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr16:29884037C>T	ENST00000350527.3	-	15	2376	c.2306G>A	c.(2305-2307)cGa>cAa	p.R769Q	SEZ6L2_ENST00000346932.5_Missense_Mutation_p.R725Q|SEZ6L2_ENST00000308713.5_Intron|SEZ6L2_ENST00000537485.1_Missense_Mutation_p.R795Q	NM_001243332.1|NM_012410.3	NP_001230261.1|NP_036542.1	Q6UXD5	SE6L2_HUMAN	seizure related 6 homolog (mouse)-like 2	829	Sushi 5.					endoplasmic reticulum membrane|integral to membrane|plasma membrane				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TTCCAGTTTTCGGTTGTCCAG	0.672000													29	36					0	0	0.0024448	0	0
RAPGEF5	9771	broad.mit.edu	37	7	22196451	22196451	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr7:22196451C>T	ENST00000344041.6	-	16	1466	c.1154G>A	c.(1153-1155)gGa>gAa	p.G385E	RAPGEF5_ENST00000401957.2_Missense_Mutation_p.G235E	NM_012294.3	NP_036426.3	Q92565	RPGF5_HUMAN	Rap guanine nucleotide exchange factor (GEF) 5	235	Ras-GEF.				nervous system development|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	nucleus	GTP-dependent protein binding|Rap guanyl-nucleotide exchange factor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)|ovary(1)	6						AGTCACAGTTCCTCTATGCTG	0.458000													17	22					0	0	0.00188189	0	0
EXT2	2132	broad.mit.edu	37	11	44193160	44193160	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr11:44193160G>A	ENST00000395673.3	+	8	1328		c.e8-1		EXT2_ENST00000343631.3_Splice_Site|EXT2_ENST00000533608.1_Splice_Site|EXT2_ENST00000358681.4_Intron	NM_000401.3	NP_000392.3	Q93063	EXT2_HUMAN	exostosin glycosyltransferase 2						glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction	Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|lung(17)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	32						TTTCTTTATAGGCCCGGTGGT	0.438000			"""Mis, N, F, S"""			"""exostoses, osteosarcoma"""			Hereditary Multiple Exostoses				32	40					0	0	0.000692331	0	0
GRM6	2916	broad.mit.edu	37	5	178413290	178413290	+	Silent	SNP	G	G	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr5:178413290G>A	ENST00000231188.5	-	8	2143	c.1965C>T	c.(1963-1965)ctC>ctT	p.L655L	RP11-281O15.4_ENST00000519491.1_RNA|GRM6_ENST00000517717.1_Silent_p.L655L	NM_000843.3	NP_000834.2	O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6	655					detection of visible light|visual perception	integral to plasma membrane				NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		GGCCCAGGAAGAGCCTGCGGG	0.637000													11	6					0	0	0.000978159	0	0
TBC1D19	55296	broad.mit.edu	37	4	26744181	26744181	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr4:26744181C>T	ENST00000264866.4	+	18	1557	c.1279C>T	c.(1279-1281)Ccc>Tcc	p.P427S	TBC1D19_ENST00000511789.1_Missense_Mutation_p.P362S	NM_018317.2	NP_060787.2	Q8N5T2	TBC19_HUMAN	TBC1 domain family, member 19	427	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			breast(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	17		Breast(46;0.0503)				AACTTATCTTCCCCAACTCTT	0.333000													31	70					0	0	0.00058488	0	0
ACSM2A	123876	broad.mit.edu	37	16	20471449	20471449	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr16:20471449C>T	ENST00000573854.1	+	2	127	c.13C>T	c.(13-15)Cga>Tga	p.R5*	ACSM2A_ENST00000536134.1_5'UTR|ACSM2A_ENST00000424070.1_Nonsense_Mutation_p.R5*|ACSM2A_ENST00000575558.1_Intron|ACSM2A_ENST00000219054.6_Nonsense_Mutation_p.R5*|ACSM2A_ENST00000417235.2_Intron|ACSM2A_ENST00000575690.1_Nonsense_Mutation_p.R5*|ACSM2A_ENST00000396104.2_Nonsense_Mutation_p.R5*	NM_001010845.2	NP_001010845.1	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member 2A	5					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						GCATTGGCTGCGAAAAGTTCA	0.488000													11	9					0	0	0.00136819	0	0
COL11A2	1302	broad.mit.edu	37	6	33137244	33137244	+	Silent	SNP	C	C	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr6:33137244C>T	ENST00000341947.2	-	51	3941	c.3714G>A	c.(3712-3714)gaG>gaA	p.E1238E	COL11A2_ENST00000374713.1_Silent_p.E1191E|COL11A2_ENST00000477772.1_Intron|COL11A2_ENST00000374714.1_Silent_p.E1212E|COL11A2_ENST00000357486.1_Silent_p.E1217E|COL11A2_ENST00000361917.1_Silent_p.E1131E|COL11A2_ENST00000395197.1_Silent_p.E1178E|COL11A2_ENST00000374708.4_Silent_p.E1152E|COL11A2_ENST00000374712.1_Silent_p.E1157E	NM_080680.2	NP_542411.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	1238	Triple-helical region.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						ACTCTCCTTTCTCTCCACGTT	0.622000													14	30					0	0	0.000958276	0	0
OR2AK2	391191	broad.mit.edu	37	1	248129009	248129009	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr1:248129009G>A	ENST00000366480.3	+	1	475	c.376G>A	c.(376-378)Gaa>Aaa	p.E126K	OR2L13_ENST00000366478.2_Intron	NM_001004491.1	NP_001004491.1	Q8NG84	O2AK2_HUMAN	olfactory receptor, family 2, subfamily AK, member 2	126					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			TGGTGGAACTGAAGCCCTTCT	0.443000													40	144					0	0	0.000509022	0	0
FOXI1	2299	broad.mit.edu	37	5	169535099	169535099	+	Silent	SNP	C	C	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr5:169535099C>T	ENST00000306268.6	+	2	682	c.621C>T	c.(619-621)ttC>ttT	p.F207F	FOXI1_ENST00000449804.2_Intron			Q12951	FOXI1_HUMAN	forkhead box I1	207					epidermal cell fate specification|otic placode formation|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding	p.F207F(1)		breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AGAAAATGTTCGACAATGGAA	0.468000									Pendred syndrome				22	21					0	0	0.000375601	0	0
SCN5A	6331	broad.mit.edu	37	3	38645454	38645454	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr3:38645454C>T	ENST00000413689.1	-	12	1832	c.1639G>A	c.(1639-1641)Gaa>Aaa	p.E547K	SCN5A_ENST00000414099.2_Missense_Mutation_p.E547K|SCN5A_ENST00000333535.4_Missense_Mutation_p.E547K|SCN5A_ENST00000455624.2_Missense_Mutation_p.E547K|SCN5A_ENST00000450102.2_Missense_Mutation_p.E547K|SCN5A_ENST00000449557.2_Missense_Mutation_p.E547K|SCN5A_ENST00000451551.2_Missense_Mutation_p.E547K|SCN5A_ENST00000443581.1_Missense_Mutation_p.E547K|SCN5A_ENST00000425664.1_Missense_Mutation_p.E547K|SCN5A_ENST00000423572.2_Missense_Mutation_p.E547K	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	547					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	GTGCTGTTTTCATCATCTGCA	0.612000													20	11					0	0	0.00152264	0	0
SNCB	6620	broad.mit.edu	37	5	176053500	176053500	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr5:176053500C>T	ENST00000310112.3	-	5	431	c.181G>A	c.(181-183)Gaa>Aaa	p.E61K	SNCB_ENST00000393693.2_Missense_Mutation_p.E61K|SNCB_ENST00000510387.1_Missense_Mutation_p.E61K|SNCB_ENST00000506696.1_Missense_Mutation_p.E61K	NM_001001502.1	NP_001001502.1	Q16143	SYUB_HUMAN	synuclein, beta	61	4 X 11 AA tandem repeats of [EGS]-K-T-K- [EQ]-[GQ]-V-X(4).						calcium ion binding|phospholipase inhibitor activity			breast(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	10	all_cancers(89;0.00222)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.00498)|all_neural(177;0.0212)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GAGGCCTGTTCCTTGGTTTTT	0.582000													12	7					0	0	0.00136819	0	0
HSPG2	3339	broad.mit.edu	37	1	22183635	22183635	+	Silent	SNP	G	G	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr1:22183635G>A	ENST00000374695.3	-	44	5527	c.5448C>T	c.(5446-5448)acC>acT	p.T1816T		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	1816	Ig-like C2-type 3.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	CCATGGCTCGGGTGGGCAGTT	0.612000													34	48					0	0	0.00195071	0	0
HMCN1	83872	broad.mit.edu	37	1	186062349	186062349	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr1:186062349C>T	ENST00000271588.4	+	65	10200	c.9971C>T	c.(9970-9972)cCc>cTc	p.P3324L	HMCN1_ENST00000367492.2_Missense_Mutation_p.P3324L	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	3324	Ig-like C2-type 31.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GCTACTAATCCCGCTGGAGAA	0.393000													13	13					0	0	0.00185496	0	0
DDX3X	1654	broad.mit.edu	37	X	41202598	41202598	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chrX:41202598C>T	ENST00000399959.2	+	7	1528	c.673C>T	c.(673-675)Caa>Taa	p.Q225*	DDX3X_ENST00000542215.1_Nonsense_Mutation_p.Q269*|DDX3X_ENST00000457138.2_Nonsense_Mutation_p.Q209*|DDX3X_ENST00000478993.1_3'UTR|DDX3X_ENST00000441189.2_Intron	NM_001193416.1|NM_001193417.1|NM_001356.3	NP_001180345.1|NP_001180346.1|NP_001347.3	O00571	DDX3X_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked	225	Helicase ATP-binding.				interspecies interaction between organisms	cytoplasm|nuclear speck	ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding|RNA binding			NS(3)|breast(8)|central_nervous_system(36)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84						GGCTTGTGCCCAAACAGGTAA	0.363000										HNSCC(61;0.18)			13	1					0	0	0.000308642	0	0
ZSCAN1	284312	broad.mit.edu	37	19	58563958	58563958	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr19:58563958G>A	ENST00000282326.1	+	5	813	c.566G>A	c.(565-567)aGg>aAg	p.R189K		NM_182572.3	NP_872378.3	Q8NBB4	ZSCA1_HUMAN	zinc finger and SCAN domain containing 1	189					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		CTGCACACCAGGGCGGAGGCC	0.617000													20	29					0	0	0.00152264	0	0
KCNJ4	3761	broad.mit.edu	37	22	38822972	38822972	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr22:38822972T>G	ENST00000303592.3	-	2	1424	c.1166A>C	c.(1165-1167)gAg>gCg	p.E389A	RP3-434P1.6_ENST00000433230.1_RNA	NM_004981.1|NM_152868.2	NP_004972.1|NP_690607.1	P48050	IRK4_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 4	389	Poly-Glu.				synaptic transmission	basolateral plasma membrane|voltage-gated potassium channel complex	inward rectifier potassium channel activity|PDZ domain binding			endometrium(7)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	23	Melanoma(58;0.0286)					AGCTGCCTCCTCCTCCATCTC	0.682000													28	71					0	0	0.0024448	0	0
PLEC	5339	broad.mit.edu	37	8	144998070	144998070	+	Silent	SNP	C	C	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr8:144998070C>T	ENST00000322810.4	-	31	6607	c.6438G>A	c.(6436-6438)gaG>gaA	p.E2146E	PLEC_ENST00000354589.3_Silent_p.E2009E|PLEC_ENST00000354958.2_Silent_p.E1987E|PLEC_ENST00000527096.1_Silent_p.E2032E|PLEC_ENST00000436759.2_Silent_p.E2036E|PLEC_ENST00000356346.3_Silent_p.E1995E|PLEC_ENST00000357649.2_Silent_p.E2013E|PLEC_ENST00000345136.3_Silent_p.E2009E|PLEC_ENST00000398774.2_Silent_p.E1977E	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2146	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle	p.E2009D(2)|p.E2036D(2)|p.E2146D(2)		NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GCTCGACTTCCTCCAGCGCCG	0.756000													16	10					0	0	0.00188189	0	0
ZCCHC18	644353	broad.mit.edu	37	X	103358982	103358982	+	Silent	SNP	C	C	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chrX:103358982C>T	ENST00000537356.2	+	1	180	c.180C>T	c.(178-180)acC>acT	p.T60T	SLC25A53_ENST00000357421.4_Intron|ZCCHC18_ENST00000422784.1_Intron	NM_001143978.1	NP_001137450.1	P0CG32	ZCC18_HUMAN	zinc finger, CCHC domain containing 18	60							nucleic acid binding|zinc ion binding										GGAAAGAAACCTTTGAAAACT	0.493000													5	0					0	0	0.000602214	0	0
CCDC64	92558	broad.mit.edu	37	12	120499591	120499591	+	Silent	SNP	C	C	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr12:120499591C>T	ENST00000397558.2	+	3	723	c.723C>T	c.(721-723)acC>acT	p.T241T		NM_207311.2	NP_997194.2	Q6ZP65	BICR1_HUMAN	coiled-coil domain containing 64	241					Golgi to secretory granule transport|neuron projection development	centrosome	dynactin binding|Rab GTPase binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	22	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					ACTCATCAACCAACCAGCACA	0.532000													7	16					0	0	0.00198382	0	0
CDCA2	157313	broad.mit.edu	37	8	25340955	25340955	+	Missense_Mutation	SNP	C	C	T	rs144887977		TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr8:25340955C>T	ENST00000330560.3	+	9	1550	c.1073C>T	c.(1072-1074)cCg>cTg	p.P358L	CDCA2_ENST00000380665.3_Missense_Mutation_p.P343L|CDCA2_ENST00000521098.2_3'UTR	NM_152562.2	NP_689775.2	Q69YH5	CDCA2_HUMAN	cell division cycle associated 2	358					cell division|mitosis	cytoplasm|nucleus				breast(3)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(7)|lung(10)|ovary(1)|prostate(3)	35		all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443)		GGGACTCATCCGAGCTTAATC	0.318000													49	31					0	0	0.000781405	0	0
CYP2B6	1555	broad.mit.edu	37	19	41518636	41518636	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr19:41518636A>G	ENST00000324071.4	+	8	1217	c.1210A>G	c.(1210-1212)Aaa>Gaa	p.K404E	CYP2B6_ENST00000593831.1_Missense_Mutation_p.K168E|CYP2B6_ENST00000330446.5_Missense_Mutation_p.K204E	NM_000767.4	NP_000758.1	P20813	CP2B6_HUMAN	cytochrome P450, family 2, subfamily B, polypeptide 6	404					cellular ketone metabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(20;0.00322)		Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361)	CTACTTTGAAAAACCAGACGC	0.473000													34	46					0	0	0.00111076	0	0
BACE2	25825	broad.mit.edu	37	21	42613747	42613747	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr21:42613747C>T	ENST00000330333.6	+	4	1083	c.618_splice	c.e4-1	p.P207_splice	BACE2_ENST00000347667.4_Splice_Site_p.P207_splice|BACE2_ENST00000466122.1_3'UTR|BACE2_ENST00000328735.6_Splice_Site_p.P207_splice	NM_012105.3	NP_036237.2	Q9Y5Z0	BACE2_HUMAN	beta-site APP-cleaving enzyme 2	207					membrane protein ectodomain proteolysis|negative regulation of amyloid precursor protein biosynthetic process|peptide hormone processing	cell surface|endoplasmic reticulum|endosome|Golgi apparatus|integral to membrane	aspartic-type endopeptidase activity			endometrium(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14		Prostate(19;1.57e-07)|all_epithelial(19;0.0251)				CTCCCGCAGCCATCAAGTTCT	0.577000													49	34					0	0	0.000781405	0	0
KRT19P2	160313	broad.mit.edu	37	12	95228369	95228369	+	RNA	SNP	C	C	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr12:95228369C>T	ENST00000405395.2	+	0	140					NR_036685.1																						AGGCACAGATCAAAGGCCTGA	0.542000													11	8					0	0	0.000673444	0	0
SPEG	10290	broad.mit.edu	37	2	220355507	220355507	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr2:220355507G>A	ENST00000312358.7	+	38	9346	c.9214G>A	c.(9214-9216)Ggc>Agc	p.G3072S	AC053503.11_ENST00000429882.1_RNA|SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	3072	Protein kinase 2.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		GCTGCTACAAGGCCTGGACTA	0.592000													16	45					0	0	0.00074312	0	0
NEDD4	4734	broad.mit.edu	37	15	56155188	56155188	+	Silent	SNP	C	C	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr15:56155188C>T	ENST00000508342.1	-	5	2153	c.1854G>A	c.(1852-1854)gaG>gaA	p.E618E	NEDD4_ENST00000506154.1_Silent_p.E602E|NEDD4_ENST00000435532.3_Silent_p.E199E|NEDD4_ENST00000338963.2_Silent_p.E546E			P46934	NEDD4_HUMAN	neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase	618	Mediates interaction with TNIK (By similarity).|WW 1.				development involved in symbiotic interaction|glucocorticoid receptor signaling pathway|negative regulation of sodium ion transport|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage|negative regulation of vascular endothelial growth factor receptor signaling pathway|neuron projection development|positive regulation of nucleocytoplasmic transport|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein catabolic process|progesterone receptor signaling pathway|protein K63-linked ubiquitination|protein targeting to lysosome|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|receptor internalization|regulation of dendrite morphogenesis|response to calcium ion|transmission of virus	apicolateral plasma membrane|cell cortex|chromatin|cytosol|perinuclear region of cytoplasm|ubiquitin ligase complex	beta-2 adrenergic receptor binding|phosphoserine binding|phosphothreonine binding|proline-rich region binding|protein domain specific binding|RNA polymerase binding|sodium channel inhibitor activity|ubiquitin binding|ubiquitin-protein ligase activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	43				all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)		TATCCTGCCTCTCTTCCCACC	0.473000													11	20					0	0	0.000978159	0	0
IL3	3562	broad.mit.edu	37	5	131398406	131398406	+	Silent	SNP	G	G	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr5:131398406G>A	ENST00000296870.2	+	5	559	c.381G>A	c.(379-381)cgG>cgA	p.R127R		NM_000588.3	NP_000579.2	P08700	IL3_HUMAN	interleukin 3 (colony-stimulating factor, multiple)	127					cell-cell signaling|immune response|nervous system development|positive regulation of cell proliferation|positive regulation of DNA replication|positive regulation of survival gene product expression|positive regulation of tyrosine phosphorylation of Stat5 protein	extracellular space	cytokine activity|growth factor activity|interleukin-3 receptor binding			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)	10		all_cancers(142;7.42e-12)|Lung NSC(810;4.25e-07)|all_lung(232;1.93e-06)|Prostate(281;0.00741)|Breast(839;0.0544)|Lung SC(612;0.122)|Ovarian(839;0.223)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	GBM - Glioblastoma multiforme(465;0.0161)|Lung(113;0.105)	Amlexanox(DB01025)	ATGAATTCCGGAGGAAACTGA	0.483000											OREG0016762	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	43	44					0	0	0.000509022	0	0
ANKRD6	22881	broad.mit.edu	37	6	90305674	90305674	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr6:90305674C>T	ENST00000369408.5	+	3	509	c.160C>T	c.(160-162)Cat>Tat	p.H54Y	ANKRD6_ENST00000522441.1_Missense_Mutation_p.H54Y|ANKRD6_ENST00000520886.2_3'UTR|ANKRD6_ENST00000485637.1_Missense_Mutation_p.H54Y|ANKRD6_ENST00000339746.4_Missense_Mutation_p.H54Y|ANKRD6_ENST00000447838.2_Missense_Mutation_p.H54Y|ANKRD6_ENST00000520793.1_Missense_Mutation_p.H54Y	NM_001242813.1	NP_001229742.1	Q9Y2G4	ANKR6_HUMAN	ankyrin repeat domain 6	54							protein binding			NS(1)|endometrium(3)|large_intestine(7)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|stomach(2)	21		all_cancers(76;1.22e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;1.83e-05)|Lung NSC(302;0.239)		BRCA - Breast invasive adenocarcinoma(108;0.0209)		CAATAAGGGCCATCTTCCTGT	0.512000													10	13					0	0	0.00136819	0	0
CSTL1	128817	broad.mit.edu	37	20	23421056	23421056	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr20:23421056C>T	ENST00000347397.1	+	2	398	c.152C>T	c.(151-153)tCc>tTc	p.S51F	CSTL1_ENST00000472140.1_3'UTR|CSTL1_ENST00000246020.2_Missense_Mutation_p.S51F	NM_138283.1	NP_612140.1	Q9H114	CST1L_HUMAN	cystatin-like 1	51						extracellular region	cysteine-type endopeptidase inhibitor activity			breast(2)|endometrium(2)|large_intestine(3)|lung(4)|skin(2)|stomach(1)	14	Colorectal(13;0.0993)|Lung NSC(19;0.235)					TTCATTCAATCCTACAACAAT	0.478000													55	38					0	0	0.000781405	0	0
D2HGDH	728294	broad.mit.edu	37	2	242707157	242707157	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr2:242707157G>A	ENST00000321264.4	+	10	1548	c.1339G>A	c.(1339-1341)Gag>Aag	p.E447K	D2HGDH_ENST00000403782.1_Missense_Mutation_p.E313K|D2HGDH_ENST00000486953.1_3'UTR	NM_152783.3	NP_689996.4	Q8N465	D2HDH_HUMAN	D-2-hydroxyglutarate dehydrogenase	447					2-oxoglutarate metabolic process|cellular protein metabolic process|response to cobalt ion|response to manganese ion|response to zinc ion	mitochondrial matrix	(R)-2-hydroxyglutarate dehydrogenase activity|flavin adenine dinucleotide binding|protein binding			breast(1)|endometrium(3)|lung(10)|skin(1)|urinary_tract(1)	16		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833)		TGTGACGGCGGAGGCCTTCAG	0.692000													12	35					0	0	0.000219431	0	0
ZNF568	374900	broad.mit.edu	37	19	37440953	37440953	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr19:37440953C>T	ENST00000415168.1	+	5	1082	c.706C>T	c.(706-708)Cat>Tat	p.H236Y	ZNF568_ENST00000427117.1_Intron|ZNF568_ENST00000333987.7_Missense_Mutation_p.H300Y|ZNF568_ENST00000455427.2_Intron	NM_001204837.1	NP_001191766.1	Q3ZCX4	ZN568_HUMAN	zinc finger protein 568	300					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(9)|ovary(1)	29	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CCACAGAATTCATACTGGGGA	0.378000													16	14					0	0	0.000958276	0	0
BTBD11	121551	broad.mit.edu	37	12	108013802	108013802	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr12:108013802G>A	ENST00000280758.5	+	11	3020	c.2492G>A	c.(2491-2493)cGg>cAg	p.R831Q	BTBD11_ENST00000420571.2_Missense_Mutation_p.R712Q|BTBD11_ENST00000490090.2_Missense_Mutation_p.R831Q|BTBD11_ENST00000357167.4_Missense_Mutation_p.R368Q	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11	831						integral to membrane	DNA binding	p.R831Q(2)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						GAGTCTTTGCGGATCGCCTTC	0.602000													7	9					0	0	0.000274275	0	0
ASPA	443	broad.mit.edu	37	17	3397658	3397658	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr17:3397658C>T	ENST00000263080.2	+	5	807	c.649C>T	c.(649-651)Ccc>Tcc	p.P217S	SPATA22_ENST00000541913.1_Intron|ASPA_ENST00000456349.2_Missense_Mutation_p.P217S	NM_000049.2	NP_000040.1	P45381	ACY2_HUMAN	aspartoacylase	217					aspartate catabolic process	cytoplasm|nucleus	aminoacylase activity|aspartoacylase activity|hydrolase activity, acting on ester bonds|metal ion binding			breast(2)|endometrium(2)|large_intestine(6)|lung(5)|stomach(1)|urinary_tract(1)	17					L-Aspartic Acid(DB00128)	AGAATTTCCTCCCTGCGCCAT	0.428000													87	125					0	0	0.000781405	0	0
DSCAM	1826	broad.mit.edu	37	21	41710220	41710220	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr21:41710220G>A	ENST00000400454.1	-	8	2068	c.1591C>T	c.(1591-1593)Ccg>Tcg	p.P531S		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	531	Ig-like C2-type 6.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				GAGTAATACGGATAGCCAATC	0.438000													15	37					0	0	0.000308642	0	0
HECW2	57520	broad.mit.edu	37	2	197086952	197086952	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr2:197086952C>T	ENST00000260983.2	-	24	4311	c.4129G>A	c.(4129-4131)Gaa>Aaa	p.E1377K	HECW2_ENST00000409111.1_Missense_Mutation_p.E1021K	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	1377	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						AATACTTCTTCGTTCACAGTG	0.453000													12	25					0	0	0.000308642	0	0
SDR16C5	195814	broad.mit.edu	37	8	57228681	57228681	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr8:57228681C>T	ENST00000396721.2	-	2	356	c.226G>A	c.(226-228)Ggg>Agg	p.G76R	SDR16C5_ENST00000303749.3_Missense_Mutation_p.G76R|SDR16C5_ENST00000522671.1_Missense_Mutation_p.G76R			Q8N3Y7	RDHE2_HUMAN	short chain dehydrogenase/reductase family 16C, member 5	76					detection of light stimulus involved in visual perception|keratinocyte proliferation|retinal metabolic process|retinol metabolic process	endoplasmic reticulum membrane|integral to membrane|integral to membrane of membrane fraction	binding|retinol dehydrogenase activity			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(1)	16						TCCTCATTCCCCTCCTTATTG	0.517000													34	68					0	0	0.000814825	0	0
UGT2B28	54490	broad.mit.edu	37	4	70146802	70146802	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr4:70146802C>T	ENST00000335568.5	+	1	586	c.584C>T	c.(583-585)cCt>cTt	p.P195L	UGT2B28_ENST00000511240.1_Missense_Mutation_p.P195L	NM_053039.1	NP_444267.1	Q9BY64	UDB28_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B28	195					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			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)	TCCTACATACCTGTTGTTATG	0.393000													8	15					0	0	0.000157383	0	0
CATSPER2P1	440278	broad.mit.edu	37	15	44028891	44028891	+	RNA	SNP	G	G	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr15:44028891G>A	ENST00000381680.2	-	0	893					NR_002318.2																						AATGATTGATGTTTAGTTTTA	0.338000													4	5					0	0	0.00024832	0	0
AJAP1	55966	broad.mit.edu	37	1	4772234	4772234	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr1:4772234C>T	ENST00000378191.4	+	2	685	c.304C>T	c.(304-306)Cac>Tac	p.H102Y	AJAP1_ENST00000378190.3_Missense_Mutation_p.H102Y	NM_018836.3	NP_061324.1	Q9UKB5	AJAP1_HUMAN	adherens junctions associated protein 1	102					cell adhesion	adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane				endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	24	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)		CAGACGGGCCCACAGGCCCCG	0.736000													6	6					0	0	0.00116845	0	0
NETO1	81832	broad.mit.edu	37	18	70526090	70526090	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr18:70526090C>T	ENST00000327305.6	-	4	1097	c.440G>A	c.(439-441)gGa>gAa	p.G147E	NETO1_ENST00000397929.1_Missense_Mutation_p.G146E|NETO1_ENST00000580049.1_5'UTR|NETO1_ENST00000299430.2_Missense_Mutation_p.G146E|NETO1_ENST00000583169.1_Missense_Mutation_p.G147E	NM_138966.3	NP_620416.1	Q8TDF5	NETO1_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 1	147	CUB 1.				memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity			NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		AGCTGAAAATCCCATAGATTC	0.328000													17	22					0	0	0.000958276	0	0
NEU4	129807	broad.mit.edu	37	2	242755715	242755715	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr2:242755715C>T	ENST00000391969.2	+	3	745	c.34C>T	c.(34-36)Ctc>Ttc	p.L12F	NEU4_ENST00000325935.6_Missense_Mutation_p.L25F|NEU4_ENST00000407683.1_Missense_Mutation_p.L12F|NEU4_ENST00000405370.1_Missense_Mutation_p.L12F|NEU4_ENST00000404257.1_Missense_Mutation_p.L24F	NM_001167602.1	NP_001161074.1	Q8WWR8	NEUR4_HUMAN	sialidase 4	12						lysosomal lumen|organelle inner membrane	exo-alpha-sialidase activity|protein binding			breast(1)|lung(10)|prostate(2)|skin(2)	15		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0825)		ACGGACAGTGCTCTTCGAGCG	0.697000													22	17					0	0	0.000878237	0	0
COL4A3	1285	broad.mit.edu	37	2	228147222	228147222	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr2:228147222G>A	ENST00000396578.3	+	32	2792	c.2630G>A	c.(2629-2631)gGa>gAa	p.G877E	AC097662.2_ENST00000433324.1_RNA|AC097662.2_ENST00000396588.2_RNA|AC097662.2_ENST00000439598.2_RNA	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	877	Triple-helical region.				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		GGATATCCAGGAAATCCGGGA	0.438000													26	26					0	0	0.00127121	0	0
PLEC	5339	broad.mit.edu	37	8	144998603	144998603	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr8:144998603C>T	ENST00000322810.4	-	31	6074	c.5905G>A	c.(5905-5907)Gag>Aag	p.E1969K	PLEC_ENST00000354589.3_Missense_Mutation_p.E1832K|PLEC_ENST00000354958.2_Missense_Mutation_p.E1810K|PLEC_ENST00000527096.1_Missense_Mutation_p.E1855K|PLEC_ENST00000436759.2_Missense_Mutation_p.E1859K|PLEC_ENST00000356346.3_Missense_Mutation_p.E1818K|PLEC_ENST00000357649.2_Missense_Mutation_p.E1836K|PLEC_ENST00000345136.3_Missense_Mutation_p.E1832K|PLEC_ENST00000398774.2_Missense_Mutation_p.E1800K	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	1969	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						AGCACCCGCTCCGCCTCGGCC	0.746000													6	5					0	0	0.000274275	0	0
ZCCHC5	203430	broad.mit.edu	37	X	77912605	77912605	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chrX:77912605C>T	ENST00000321110.1	-	2	1608	c.1313G>A	c.(1312-1314)cGt>cAt	p.R438H		NM_152694.2	NP_689907.1	Q8N8U3	ZCHC5_HUMAN	zinc finger, CCHC domain containing 5	438							nucleic acid binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1)	37						TTTGTGCCAACGGACCCATTC	0.547000													11	1					0	0	0.00136819	0	0
PI3	5266	broad.mit.edu	37	20	43804541	43804541	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr20:43804541C>T	ENST00000243924.3	+	2	166	c.119C>T	c.(118-120)cCa>cTa	p.P40L		NM_002638.3	NP_002629.1	P19957	ELAF_HUMAN	peptidase inhibitor 3, skin-derived	40	2 X tandem repeats of SVP-1 like motif.				copulation	proteinaceous extracellular matrix	serine-type endopeptidase inhibitor activity			large_intestine(1)|lung(5)|skin(1)	7		Myeloproliferative disorder(115;0.0122)				GGCCGTGTTCCATTCAATGGA	0.448000													26	59					0	0	0.000491102	0	0
GPHB5	122876	broad.mit.edu	37	14	63784530	63784530	+	RNA	SNP	C	C	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr14:63784530C>T	ENST00000539258.1	-	0	90							Q86YW7	GPHB5_HUMAN	glycoprotein hormone beta 5							extracellular region	hormone activity			breast(1)|endometrium(1)|lung(4)|urinary_tract(1)	7				OV - Ovarian serous cystadenocarcinoma(108;0.00372)|all cancers(60;0.0226)|BRCA - Breast invasive adenocarcinoma(234;0.0978)		AGGAGGAGGGCCATGGGGCCA	0.582000													7	12					0	0	0.000673444	0	0
BCL2L11	10018	broad.mit.edu	37	2	111881336	111881336	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr2:111881336C>T	ENST00000393256.3	+	2	287	c.14C>T	c.(13-15)cCt>cTt	p.P5L	BCL2L11_ENST00000393253.2_Missense_Mutation_p.P5L|BCL2L11_ENST00000405953.1_Missense_Mutation_p.P5L|BCL2L11_ENST00000357757.2_Missense_Mutation_p.P5L|BCL2L11_ENST00000337565.5_Missense_Mutation_p.P5L|BCL2L11_ENST00000308659.8_Missense_Mutation_p.P5L	NM_001204106.1|NM_006538.4|NM_138621.4|NM_138627.3	NP_001191035.1|NP_006529.1|NP_619527.1|NP_619533.1	O43521	B2L11_HUMAN	BCL2-like 11 (apoptosis facilitator)	5					activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|nerve growth factor receptor signaling pathway|positive regulation of protein homooligomerization|positive regulation of release of cytochrome c from mitochondria	cytosol|endomembrane system|mitochondrial outer membrane|plasma membrane	protein binding			endometrium(4)|large_intestine(3)|lung(2)|prostate(2)	11						GCAAAGCAACCTTCTGATGTA	0.423000													31	32					0	0	0.00058488	0	0
LIPI	149998	broad.mit.edu	37	21	15538740	15538740	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr21:15538740C>T	ENST00000344577.2	-	5	764	c.739G>A	c.(739-741)Gat>Aat	p.D247N	LIPI_ENST00000536861.1_Missense_Mutation_p.D226N	NM_198996.2	NP_945347.1	Q6XZB0	LIPI_HUMAN	lipase, member I	226					lipid catabolic process	extracellular region|extracellular space|membrane|plasma membrane	heparin binding|phospholipase activity			endometrium(1)|kidney(13)|large_intestine(9)|liver(3)|lung(24)|ovary(3)|urinary_tract(1)	54				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166)		GGATAAAAATCTATATGTCCC	0.343000													14	50					0	0	0.000219431	0	0
HARS	3035	broad.mit.edu	37	5	140056385	140056385	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr5:140056385C>T	ENST00000504366.1	-	9	2660	c.841G>A	c.(841-843)Gag>Aag	p.E281K	HARS_ENST00000431330.2_Missense_Mutation_p.E236K|HARS_ENST00000504156.1_Missense_Mutation_p.E350K|HARS_ENST00000307633.3_Missense_Mutation_p.E290K|HARS_ENST00000438307.2_Missense_Mutation_p.E310K|HARS_ENST00000457527.2_Missense_Mutation_p.E330K|HARS_ENST00000415192.2_Missense_Mutation_p.E276K|HARS_ENST00000448240.1_Missense_Mutation_p.E155K			P12081	SYHC_HUMAN	histidyl-tRNA synthetase	350					histidyl-tRNA aminoacylation	cytosol	ATP binding|histidine-tRNA ligase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	19			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		L-Histidine(DB00117)	CCCAGGGGCTCTTCCCCTGCC	0.607000													15	32					0	0	0.00074312	0	0
ABHD4	63874	broad.mit.edu	37	14	23072911	23072911	+	Silent	SNP	C	C	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr14:23072911C>T	ENST00000428304.2	+	4	637	c.567C>T	c.(565-567)gcC>gcT	p.A189A	ABHD4_ENST00000544562.1_3'UTR	NM_022060.2	NP_071343.2	Q8TB40	ABHD4_HUMAN	abhydrolase domain containing 4	189					lipid catabolic process		hydrolase activity			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(3)|lung(3)|prostate(1)	14	all_cancers(95;5.49e-05)			GBM - Glioblastoma multiforme(265;0.0153)		CACCCCCAGCCTGGGTCAAAG	0.547000													17	32					0	0	0.00152264	0	0
MYH7B	57644	broad.mit.edu	37	20	33586218	33586218	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr20:33586218G>A	ENST00000262873.7	+	31	4086	c.3994G>A	c.(3994-3996)Gaa>Aaa	p.E1332K		NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	1290						membrane|myosin filament	actin binding|ATP binding|motor activity			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			ACTACAGACGGAAAGCGGTGA	0.657000													49	35					0	0	0.000781405	0	0
TBL3	10607	broad.mit.edu	37	16	2027165	2027165	+	Silent	SNP	C	C	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr16:2027165C>T	ENST00000568546.1	+	15	1679	c.1551C>T	c.(1549-1551)ttC>ttT	p.F517F		NM_006453.2	NP_006444.2	Q12788	TBL3_HUMAN	transducin (beta)-like 3	517					G-protein signaling, coupled to cGMP nucleotide second messenger|rRNA processing	nucleolus|small-subunit processome	receptor signaling protein activity			breast(1)|endometrium(2)|kidney(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	18						TGGGTGTCTTCTCAGGCCACC	0.662000													18	17					0	0	0.00074312	0	0
CSGALNACT1	55790	broad.mit.edu	37	8	19316153	19316153	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr8:19316153C>T	ENST00000454498.2	-	5	1648	c.634_splice	c.e5-1	p.G212_splice	CSGALNACT1_ENST00000311540.4_Splice_Site_p.G212_splice|CSGALNACT1_ENST00000522854.1_Splice_Site_p.G212_splice|CSGALNACT1_ENST00000332246.6_Splice_Site_p.G212_splice|CSGALNACT1_ENST00000518542.1_5'UTR|CSGALNACT1_ENST00000544602.1_Splice_Site_p.G212_splice	NM_001130518.1	NP_001123990.1	Q8TDX6	CGAT1_HUMAN	chondroitin sulfate N-acetylgalactosaminyltransferase 1	212					anatomical structure morphogenesis|cell proliferation|cell recognition|chondroitin sulfate biosynthetic process|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process|extracellular matrix organization|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|heparin biosynthetic process|nervous system development|UDP-glucuronate metabolic process|UDP-N-acetylgalactosamine metabolic process	Golgi cisterna membrane|integral to Golgi membrane|soluble fraction	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|glucuronosyltransferase activity|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|peptidoglycan glycosyltransferase activity	p.G212V(1)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31				Colorectal(111;0.182)		TCGGTAGATCCCTGTTAAGAG	0.403000													69	61					0	0	0.000781405	0	0
TRMT61B	55006	broad.mit.edu	37	2	29092696	29092696	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr2:29092696G>A	ENST00000306108.5	-	1	471	c.448C>T	c.(448-450)Ccc>Tcc	p.P150S		NM_017910.3	NP_060380.3	Q9BVS5	TR61B_HUMAN	tRNA methyltransferase 61 homolog B (S. cerevisiae)	150							tRNA (adenine-N1-)-methyltransferase activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(8)	13						GCCTGAAAGGGTCTCTCTCTG	0.488000													18	18					0	0	0.00152264	0	0
YJEFN3	374887	broad.mit.edu	37	19	19646238	19646238	+	Silent	SNP	C	C	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr19:19646238C>T	ENST00000555938.1	+	6	531	c.519C>T	c.(517-519)ttC>ttT	p.F173F	YJEFN3_ENST00000514277.3_Silent_p.F174F|YJEFN3_ENST00000436027.4_Silent_p.F124F																							ACATCCCCTTCCTGAGCTACC	0.642000													11	9					0	0	0.00185496	0	0
MUC5B	727897	broad.mit.edu	37	11	1273722	1273722	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr11:1273722C>T	ENST00000447027.1	+	32	15080	c.15022C>T	c.(15022-15024)Cct>Tct	p.P5008S	MUC5B_ENST00000529681.1_Missense_Mutation_p.P5005S			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	5005					cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CTCCCCTGCCCCTGGCTGTGA	0.692000													4	15					0	0	0.00024832	0	0
ATMIN	23300	broad.mit.edu	37	16	81077594	81077594	+	Silent	SNP	G	G	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr16:81077594G>A	ENST00000566488.1	+	3	1986	c.1023G>A	c.(1021-1023)ggG>ggA	p.G341G	ATMIN_ENST00000564241.1_Silent_p.G341G|ATMIN_ENST00000539819.1_3'UTR|ATMIN_ENST00000299575.4_Silent_p.G497G			O43313	ATMIN_HUMAN	ATM interactor	497	Required for formation of RAD51 foci.				response to DNA damage stimulus	nucleus	zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	20						AAACCAGTGGGATAGAAAGTC	0.448000													17	31					0	0	0.000958276	0	0
TRAV3	28690	broad.mit.edu	37	14	22192426	22192426	+	RNA	SNP	G	G	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr14:22192426G>A	ENST00000390425.2	+	0	377																											AGTTCCTTCTGAAATACATCA	0.453000													23	30					0	0	0.00127121	0	0
GNAQ	2776	broad.mit.edu	37	9	80646121	80646121	+	Silent	SNP	G	G	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr9:80646121G>A	ENST00000286548.4	-	1	253	c.31C>T	c.(31-33)Ctg>Ttg	p.L11L		NM_002072.3	NP_002063.2	P50148	GNAQ_HUMAN	guanine nucleotide binding protein (G protein), q polypeptide	11					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|glutamate signaling pathway|negative regulation of protein kinase activity|platelet activation|protein ADP-ribosylation|protein stabilization|regulation of action potential|regulation of catenin import into nucleus	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activator activity|GTPase activity|signal transducer activity			NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302						TCCTCGCTCAGGCAGCACGCC	0.682000			Mis		uveal melanoma								15	8					0	0	0.000566183	0	0
PDZD2	23037	broad.mit.edu	37	5	31983460	31983460	+	Missense_Mutation	SNP	C	C	T	rs34239074	byFrequency	TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr5:31983460C>T	ENST00000438447.1	+	3	1064	c.676C>T	c.(676-678)Cct>Tct	p.P226S	PDZD2_ENST00000282493.3_Missense_Mutation_p.P226S			O15018	PDZD2_HUMAN	PDZ domain containing 2	226					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						CTCCAGGCCTCCTGCCAACAA	0.577000													13	28					0	0	0.00185496	0	0
MCF2L2	23101	broad.mit.edu	37	3	183014915	183014915	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr3:183014915G>A	ENST00000328913.3	-	12	1643	c.1346C>T	c.(1345-1347)tCc>tTc	p.S449F	MCF2L2_ENST00000414362.2_Missense_Mutation_p.S449F|B3GNT5_ENST00000462559.1_3'UTR|MCF2L2_ENST00000473233.1_Missense_Mutation_p.S449F|MCF2L2_ENST00000447025.2_Missense_Mutation_p.S449F	NM_015078.2	NP_055893.2	Q86YR7	MF2L2_HUMAN	MCF.2 cell line derived transforming sequence-like 2	449					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			TACAGCTTGGGAAGCCAAGAG	0.532000													23	26					0	0	0.00106085	0	0
ATF7IP	55729	broad.mit.edu	37	12	14578044	14578044	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr12:14578044G>A	ENST00000544627.1	+	2	1539	c.1219G>A	c.(1219-1221)Gaa>Aaa	p.E407K	ATF7IP_ENST00000543189.1_Missense_Mutation_p.E399K|ATF7IP_ENST00000261168.4_Missense_Mutation_p.E399K|ATF7IP_ENST00000540793.1_Missense_Mutation_p.E399K|ATF7IP_ENST00000536444.1_Missense_Mutation_p.E399K|ATF7IP_ENST00000541654.1_3'UTR			Q6VMQ6	MCAF1_HUMAN	activating transcription factor 7 interacting protein	399	Glu-rich.				DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent		protein binding			cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						TGAAAAGAATGAAGATGAAAC	0.333000													32	36					0	0	0.00178596	0	0
ZRANB2	9406	broad.mit.edu	37	1	71544186	71544186	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr1:71544186C>T	ENST00000370920.3	-	3	473	c.172G>A	c.(172-174)Gaa>Aaa	p.E58K	ZRANB2_ENST00000254821.6_Missense_Mutation_p.E58K	NM_203350.2	NP_976225.1	O95218	ZRAB2_HUMAN	zinc finger, RAN-binding domain containing 2	58					mRNA processing|RNA splicing	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|stomach(1)	15						CGGCTCTTTTCTGCAAGTGTC	0.383000													23	47					0	0	0.00127121	0	0
UTP6	55813	broad.mit.edu	37	17	30202391	30202391	+	Silent	SNP	C	C	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr17:30202391C>T	ENST00000261708.4	-	14	1304	c.1167G>A	c.(1165-1167)ctG>ctA	p.L389L	CTC-542B22.2_ENST00000583236.1_lincRNA	NM_018428.2	NP_060898.2	Q9NYH9	UTP6_HUMAN	UTP6, small subunit (SSU) processome component, homolog (yeast)	389					rRNA processing	nucleolus	binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)	21		all_hematologic(16;0.0149)|Ovarian(249;0.021)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|Breast(31;0.231)				CTGCCACTTCCAGAGCTTCCC	0.443000													27	36					0	0	0.000491102	0	0
SAMD7	344658	broad.mit.edu	37	3	169656259	169656259	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr3:169656259C>T	ENST00000428432.2	+	9	1695	c.1306C>T	c.(1306-1308)Cct>Tct	p.P436S	SAMD7_ENST00000335556.3_Missense_Mutation_p.P436S	NM_182610.2	NP_872416.1	Q7Z3H4	SAMD7_HUMAN	sterile alpha motif domain containing 7	436										NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)			TACAATAATTCCTAAAGGAAT	0.398000													6	16					0	0	0.00116845	0	0
CYP2A6	1548	broad.mit.edu	37	19	41352829	41352829	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr19:41352829G>A	ENST00000301141.5	-	5	802	c.782C>T	c.(781-783)cCc>cTc	p.P261L	CTC-490E21.12_ENST00000601627.1_Intron	NM_000762.5	NP_000753.3	P11509	CP2A6_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 6	261					coumarin catabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|enzyme binding|heme binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)	37			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		Chlorzoxazone(DB00356)|Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Formoterol(DB00983)|Halothane(DB01159)|Letrozole(DB01006)|Methoxsalen(DB00553)|Metyrapone(DB01011)|Nicotine(DB00184)|Pilocarpine(DB01085)|Tolbutamide(DB01124)|Tranylcypromine(DB00752)	TGGGGAATTGGGATCCAGCGT	0.572000													18	30					0	0	0.00152264	0	0
DSG3	1830	broad.mit.edu	37	18	29039894	29039894	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr18:29039894G>A	ENST00000257189.4	+	6	687	c.604G>A	c.(604-606)Gaa>Aaa	p.E202K		NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	desmoglein 3	202	Cadherin 2.				cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			TGTCTCTCAGGAACCAGCAGG	0.458000													11	15					0	0	0.00136819	0	0
TSHZ2	128553	broad.mit.edu	37	20	51872921	51872921	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr20:51872921C>T	ENST00000371497.5	+	2	3811	c.2924C>T	c.(2923-2925)tCg>tTg	p.S975L	TSHZ2_ENST00000603338.2_Missense_Mutation_p.S972L|RP4-678D15.1_ENST00000606932.1_RNA|TSHZ2_ENST00000329613.6_Missense_Mutation_p.S972L	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	975					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			TCCCGGGTATCGTCGGCTCAG	0.493000													13	35					0	0	0.00185496	0	0
PDGFRA	5156	broad.mit.edu	37	4	55133901	55133901	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr4:55133901G>A	ENST00000257290.5	+	7	1445	c.1114G>A	c.(1114-1116)Gaa>Aaa	p.E372K	FIP1L1_ENST00000507166.1_Intron	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	372	Ig-like C2-type 4.				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	AAAGATTCAGGAAATAAGGTA	0.463000			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)			3	7					0	0	0.00024832	0	0
MGA	23269	broad.mit.edu	37	15	42042693	42042693	+	Silent	SNP	C	C	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr15:42042693C>T	ENST00000219905.7	+	17	7069	c.6888C>T	c.(6886-6888)ttC>ttT	p.F2296F	MGA_ENST00000545763.1_Silent_p.F2087F|MGA_ENST00000570161.1_Silent_p.F2296F|MGA_ENST00000566586.1_Silent_p.F2087F|MGA_ENST00000389936.4_Silent_p.F2257F	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN	MGA, MAX dimerization protein	2257						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		GTGCTGACTTCACTGTTTTGG	0.423000													11	11					0	0	0.000978159	0	0
IL1B	3553	broad.mit.edu	37	2	113587996	113587996	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr2:113587996C>T	ENST00000263341.2	-	7	962	c.752G>A	c.(751-753)gGa>gAa	p.G251E	IL1B_ENST00000491056.1_5'UTR	NM_000576.2	NP_000567.1	P01584	IL1B_HUMAN	interleukin 1, beta	251					activation of MAPK activity|anti-apoptosis|apoptosis|cell-cell signaling|cellular response to drug|cellular response to mechanical stimulus|cytokine-mediated signaling pathway|embryo implantation|fever generation|negative regulation of adiponectin secretion|negative regulation of cell proliferation|negative regulation of glucose transport|negative regulation of insulin receptor signaling pathway|negative regulation of lipid catabolic process|negative regulation of MAP kinase activity|positive regulation of angiogenesis|positive regulation of calcidiol 1-monooxygenase activity|positive regulation of cell adhesion molecule production|positive regulation of cell division|positive regulation of fever generation|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of heterotypic cell-cell adhesion|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of interferon-gamma production|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of lipid catabolic process|positive regulation of membrane protein ectodomain proteolysis|positive regulation of mitosis|positive regulation of monocyte chemotactic protein-1 production|positive regulation of myosin light chain kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric oxide biosynthetic process|positive regulation of prostaglandin secretion|positive regulation of protein export from nucleus|positive regulation of T cell proliferation|positive regulation vascular endothelial growth factor production|regulation of insulin secretion|sequestering of triglyceride|smooth muscle adaptation	cytosol|extracellular space	cytokine activity|growth factor activity|interleukin-1 receptor binding|protein domain specific binding			breast(2)|central_nervous_system(1)|large_intestine(1)|lung(8)	12					Anakinra(DB00026)|Minocycline(DB01017)|Procaterol(DB01366)	TTTGGTCCCTCCCAGGAAGAC	0.478000													54	39					0	0	0.000781405	0	0
CHD9	80205	broad.mit.edu	37	16	53265346	53265346	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr16:53265346T>C	ENST00000566029.1	+	9	2511	c.2302T>C	c.(2302-2304)Ttt>Ctt	p.F768L	CHD9_ENST00000447540.1_Missense_Mutation_p.F768L|CHD9_ENST00000398510.3_Missense_Mutation_p.F768L|CHD9_ENST00000564845.1_Missense_Mutation_p.F768L			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	768					cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				AGAAGAACCATTTAACCCAGA	0.308000													9	18					0	0	0.000673444	0	0
DLL3	10683	broad.mit.edu	37	19	39989682	39989682	+	Splice_Site	SNP	A	A	G			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr19:39989682A>G	ENST00000205143.4	+	1	75	c.69_splice	c.e1+1	p.Q23_splice	DLL3_ENST00000356433.5_Splice_Site_p.Q23_splice|DLL3_ENST00000600579.1_3'UTR	NM_016941.3	NP_058637.1	Q9NYJ7	DLL3_HUMAN	delta-like 3 (Drosophila)	23					Notch signaling pathway|skeletal system development	integral to membrane	Notch binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(7)	19	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			TTCCTCCCCCAGGTCAGAGCC	0.662000													10	31					0	0	0.000673444	0	0
METTL4	64863	broad.mit.edu	37	18	2566903	2566903	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr18:2566903G>A	ENST00000319888.6	-	2	1111	c.313C>T	c.(313-315)Cat>Tat	p.H105Y	METTL4_ENST00000574538.1_Missense_Mutation_p.H105Y			Q8N3J2	METL4_HUMAN	methyltransferase like 4	105					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		methyltransferase activity|nucleic acid binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	17						CATTCTTTATGAACAGCTGGA	0.328000													24	37					0	0	0.00106085	0	0
OR8D2	283160	broad.mit.edu	37	11	124189434	124189434	+	Silent	SNP	G	G	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr11:124189434G>A	ENST00000357438.2	-	1	750	c.660C>T	c.(658-660)ttC>ttT	p.F220F		NM_001002918.1	NP_001002918.1	Q9GZM6	OR8D2_HUMAN	olfactory receptor, family 8, subfamily D, member 2	220					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0525)		TAGAGAAAATGAAAGCATAAG	0.448000													9	8					0	0	0.000274275	0	0
NTRK3	4916	broad.mit.edu	37	15	88420243	88420243	+	Silent	SNP	A	A	G	rs78821883		TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr15:88420243A>G	ENST00000394480.1	-	19	2722	c.2401T>C	c.(2401-2403)Ttg>Ctg	p.L801L	NTRK3_ENST00000360948.2_Silent_p.L815L|NTRK3_ENST00000357724.2_Silent_p.L807L|NTRK3_ENST00000557856.1_Silent_p.L793L|NTRK3_ENST00000355254.2_Silent_p.L801L	NM_001243101.1|NM_002530.3	NP_001230030.1|NP_002521.2	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	815	Protein kinase.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity		ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			TTGATGTTCAACCGCTGCTGT	0.547000			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)			15	41					0	0	0.000219431	0	0
C4B	721	broad.mit.edu	37	6	31997551	31997551	+	Silent	SNP	C	C	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr6:31997551C>T	ENST00000435363.2	+	29	3969	c.3885C>T	c.(3883-3885)ttC>ttT	p.F1295F	C4B_ENST00000425700.2_Silent_p.F1295F	NM_001002029.3	NP_001002029.3	P0C0L5	CO4B_HUMAN	complement component 4B (Chido blood group)	1295					complement activation, classical pathway|inflammatory response|innate immune response	extracellular space	endopeptidase inhibitor activity										AGGGCAGCTTCCAAGGGGGAT	0.642000													11	19					0	0	0.00136819	0	0
GALNT9	50614	broad.mit.edu	37	12	132681656	132681656	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr12:132681656T>G	ENST00000328957.8	-	11	1807	c.1808A>C	c.(1807-1809)cAc>cCc	p.H603P	GALNT9_ENST00000535228.1_Missense_Mutation_p.H354P|GALNT9_ENST00000541995.1_Missense_Mutation_p.H237P|GALNT9_ENST00000397325.2_Missense_Mutation_p.H237P	NM_001122636.1	NP_001116108.1	Q9HCQ5	GALT9_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 9 (GalNAc-T9)	603					protein O-linked glycosylation	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(1)|endometrium(1)|large_intestine(2)|lung(5)	9	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.241)		OV - Ovarian serous cystadenocarcinoma(86;7.49e-08)|Epithelial(86;3.55e-07)|all cancers(50;2.09e-05)		GTGGGGTCAGTGCCGTGCGTG	0.637000													10	34					0	0	0.00136819	0	0
TUBGCP2	10844	broad.mit.edu	37	10	135103431	135103431	+	Silent	SNP	G	G	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr10:135103431G>A	ENST00000368563.2	-	9	1613	c.1257C>T	c.(1255-1257)atC>atT	p.I419I	TUBGCP2_ENST00000252936.3_Silent_p.I419I|TUBGCP2_ENST00000368562.1_Silent_p.I12I|TUBGCP2_ENST00000543663.1_Silent_p.I447I|TUBGCP2_ENST00000417178.2_Silent_p.I289I	NM_001256617.1|NM_006659.3	NP_001243546.1|NP_006650.1	Q9BSJ2	GCP2_HUMAN	tubulin, gamma complex associated protein 2	419					G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly	centrosome|cytoplasmic microtubule|cytosol|spindle pole	protein binding			breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	35		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.87e-06)|all cancers(32;8.98e-06)|Epithelial(32;1.15e-05)		AATCCTCCTGGATCCTCTCCT	0.572000													15	5					0	0	0.00152264	0	0
KMT2A	4297	broad.mit.edu	37	11	118373601	118373601	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr11:118373601C>T	ENST00000534358.1	+	27	7017	c.6994C>T	c.(6994-6996)Cct>Tct	p.P2332S	KMT2A_ENST00000389506.5_Missense_Mutation_p.P2329S|KMT2A_ENST00000354520.4_Missense_Mutation_p.P2291S	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2			lysine (K)-specific methyltransferase 2A																		CCCTGGAATTCCTAAACTGGC	0.453000													22	40					0	0	0.000720815	0	0
BMS1P20	96610	broad.mit.edu	37	22	22663087	22663087	+	RNA	SNP	A	A	G	rs1054158		TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr22:22663087A>G	ENST00000426066.1	+	0	526					NR_027293.1																						GCTGCCACATAAGTTGTCCTT	0.303000													7	32					0	0	0.00198382	0	0
SRRM1	10250	broad.mit.edu	37	1	24975472	24975472	+	Silent	SNP	C	C	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr1:24975472C>T	ENST00000323848.9	+	4	672	c.357C>T	c.(355-357)atC>atT	p.I119I	SRRM1_ENST00000479034.1_3'UTR|SRRM1_ENST00000447431.2_Silent_p.I119I|SRRM1_ENST00000374389.4_Silent_p.I119I|SRRM1_ENST00000537199.1_Silent_p.I18I	NM_005839.3	NP_005830.2	Q8IYB3	SRRM1_HUMAN	serine/arginine repetitive matrix 1	119	Necessary for DNA and RNA-binding.|Necessary for mRNA 3'-end cleavage and cytoplasmic accumulation.|PWI.				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nuclear matrix|nuclear speck	DNA binding|protein binding|RNA binding			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	36		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)		TCGCGGGAATCCCTTCTGCTT	0.403000													53	86					0	0	0.000781405	0	0
SENP3-EIF4A1	100533955	broad.mit.edu	37	17	7476025	7476025	+	RNA	SNP	G	G	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr17:7476025G>A	ENST00000579777.1	+	0	1936					NR_037926.1																						GAGCGACTAGGAACTAACGTC	0.662000													9	9					0	0	0.000274275	0	0
SYNPO2	171024	broad.mit.edu	37	4	119948321	119948321	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr4:119948321G>A	ENST00000307142.4	+	3	993	c.797G>A	c.(796-798)aGa>aAa	p.R266K	SYNPO2_ENST00000434046.2_Missense_Mutation_p.R266K|SYNPO2_ENST00000448416.2_Intron|SYNPO2_ENST00000429713.2_Missense_Mutation_p.R266K	NM_133477.2	NP_597734.2	Q9UMS6	SYNP2_HUMAN	synaptopodin 2	266				SSGR -> IRHE (in Ref. 5; CAB51856).		nucleus|Z disc	14-3-3 protein binding|actin binding|muscle alpha-actinin binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						TCCAGTGGCAGAGAGTTGAGA	0.512000													6	14					0	0	0.000157383	0	0
GBP4	115361	broad.mit.edu	37	1	89654350	89654350	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr1:89654350G>A	ENST00000355754.6	-	8	1422	c.1325C>T	c.(1324-1326)tCt>tTt	p.S442F		NM_052941.4	NP_443173.2	Q96PP9	GBP4_HUMAN	guanylate binding protein 4	442						cytoplasm	GTP binding|GTPase activity			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(19)|skin(1)|stomach(2)|urinary_tract(1)	33				all cancers(265;0.00723)|Epithelial(280;0.0291)		TCCAGGAACAGAGAAAATTCC	0.448000													76	83					0	0	0.000781405	0	0
ASB5	140458	broad.mit.edu	37	4	177142371	177142371	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr4:177142371C>T	ENST00000296525.3	-	5	718	c.605G>A	c.(604-606)gGa>gAa	p.G202E	ASB5_ENST00000512254.1_Missense_Mutation_p.G149E	NM_080874.3	NP_543150.1	Q8WWX0	ASB5_HUMAN	ankyrin repeat and SOCS box containing 5	202					intracellular signal transduction					endometrium(2)|kidney(1)|large_intestine(9)|lung(18)|prostate(2)|skin(2)	34		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.13e-20)|Epithelial(43;9.94e-18)|OV - Ovarian serous cystadenocarcinoma(60;2e-09)|GBM - Glioblastoma multiforme(59;0.000254)|STAD - Stomach adenocarcinoma(60;0.000653)|LUSC - Lung squamous cell carcinoma(193;0.0393)		GAGAGGAGTTCCCAAATGAGG	0.403000													23	27					0	0	0.000375601	0	0
CSNK2A2	1459	broad.mit.edu	37	16	58220709	58220709	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr16:58220709G>A	ENST00000262506.3	-	3	451	c.268C>T	c.(268-270)Cgt>Tgt	p.R90C	CSNK2A2_ENST00000566813.1_5'UTR	NM_001896.2	NP_001887.1	P19784	CSK22_HUMAN	casein kinase 2, alpha prime polypeptide	90	Protein kinase.				axon guidance|Wnt receptor signaling pathway	cytosol|nucleus	ATP binding|protein N-terminus binding|protein serine/threonine kinase activity			central_nervous_system(1)	1						GTTCCACCACGAAGGTTCTCC	0.413000													27	38					0	0	0.00178596	0	0
KIF21A	55605	broad.mit.edu	37	12	39752106	39752106	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr12:39752106T>A	ENST00000395670.3	-	8	1508	c.1089A>T	c.(1087-1089)aaA>aaT	p.K363N	KIF21A_ENST00000544797.2_Missense_Mutation_p.K363N|KIF21A_ENST00000541463.2_Missense_Mutation_p.K363N|KIF21A_ENST00000361418.5_Missense_Mutation_p.K363N|KIF21A_ENST00000361961.3_Missense_Mutation_p.K363N			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	363					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				GATTGGCGTATTTCAGGGTGT	0.398000													40	82					0	0	0.00128727	0	0
SLC25A48	153328	broad.mit.edu	37	5	135207568	135207568	+	Silent	SNP	C	C	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr5:135207568C>T	ENST00000274513.5	+	5	1012	c.840C>T	c.(838-840)ctC>ctT	p.L280L	SLC25A48_ENST00000412661.2_Intron|SLC25A48_ENST00000433282.2_Intron|SLC25A48_ENST00000425402.1_Intron|SLC25A48_ENST00000420621.1_Intron			Q6ZT89	S2548_HUMAN	solute carrier family 25, member 48	0					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	10						CCGGCCCTCTCCCACCTCAGT	0.507000													11	17					0	0	0.00136819	0	0
DDX3X	1654	broad.mit.edu	37	X	41202597	41202597	+	Silent	SNP	C	C	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chrX:41202597C>T	ENST00000399959.2	+	7	1527	c.672C>T	c.(670-672)gcC>gcT	p.A224A	DDX3X_ENST00000542215.1_Silent_p.A268A|DDX3X_ENST00000457138.2_Silent_p.A208A|DDX3X_ENST00000478993.1_3'UTR|DDX3X_ENST00000441189.2_Intron	NM_001193416.1|NM_001193417.1|NM_001356.3	NP_001180345.1|NP_001180346.1|NP_001347.3	O00571	DDX3X_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked	224	Helicase ATP-binding.				interspecies interaction between organisms	cytoplasm|nuclear speck	ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding|RNA binding			NS(3)|breast(8)|central_nervous_system(36)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84						TGGCTTGTGCCCAAACAGGTA	0.363000										HNSCC(61;0.18)			13	1					0	0	0.000308642	0	0
PIGO	84720	broad.mit.edu	37	9	35093549	35093549	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr9:35093549T>A	ENST00000378617.3	-	5	1202	c.808A>T	c.(808-810)Aca>Tca	p.T270S	PIGO_ENST00000298004.5_Missense_Mutation_p.T270S|PIGO_ENST00000341666.3_Missense_Mutation_p.T270S|PIGO_ENST00000361778.2_Missense_Mutation_p.T270S	NM_032634.3	NP_116023.2	Q8TEQ8	PIGO_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class O	270					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	transferase activity			endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			ACCAGCAGTGTGTCATTCTCC	0.483000													8	1					0	0	0.000673444	0	0
CHD7	55636	broad.mit.edu	37	8	61750375	61750375	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr8:61750375G>C	ENST00000423902.2	+	18	4813	c.4334G>C	c.(4333-4335)aGa>aCa	p.R1445T	CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	1445	Helicase C-terminal.				central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			ATGAGTGGAAGAGAAAATGCT	0.388000													5	18					0	0	0.00116845	0	0
PPM1A	5494	broad.mit.edu	37	14	60756565	60756565	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr14:60756565C>T	ENST00000395076.4	+	4	1424	c.994C>T	c.(994-996)Cat>Tat	p.H332Y	PPM1A_ENST00000325642.3_Missense_Mutation_p.H405Y|PPM1A_ENST00000529574.1_Missense_Mutation_p.H332Y	NM_021003.4	NP_066283.1	P35813	PPM1A_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1A	332					cell cycle arrest|insulin receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway|protein dephosphorylation|Wnt receptor signaling pathway	cytosol|nucleus|protein serine/threonine phosphatase complex	magnesium ion binding|manganese ion binding|protein serine/threonine phosphatase activity|signal transducer activity			cervix(1)|endometrium(1)|large_intestine(8)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(108;0.046)		CGACTTAGTCCATGTGATGCG	0.428000													11	17					0	0	0.000308642	0	0
MAP3K19	80122	broad.mit.edu	37	2	135745452	135745452	+	Silent	SNP	C	C	T	rs144042857		TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr2:135745452C>T	ENST00000375845.3	-	7	1020	c.990G>A	c.(988-990)ttG>ttA	p.L330L	MAP3K19_ENST00000392918.3_Intron|MAP3K19_ENST00000392915.1_Silent_p.L347L|MAP3K19_ENST00000392917.3_Intron|MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000358371.4_Silent_p.L217L|MAP3K19_ENST00000375844.3_Intron	NM_025052.3	NP_079328.3			mitogen-activated protein kinase kinase kinase 19																		CAAAAGACACCAAAGACTGCC	0.398000													39	29					0	0	0.00195071	0	0
AKAP17A	8227	broad.mit.edu	37	X	1718147	1718147	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chrX:1718147G>A	ENST00000313871.3	+	4	1170	c.974G>A	c.(973-975)aGg>aAg	p.R325K	AKAP17A_ENST00000381261.3_Missense_Mutation_p.R325K	NM_005088.2	NP_005079.2	Q02040	AK17A_HUMAN	A kinase (PRKA) anchor protein 17A	325					B cell activation|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|signal transduction	nuclear speck|spliceosomal complex	nucleotide binding|protein binding|RNA binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)	26						CTTCGCAAGAGGGAGCAGAAG	0.577000													14	17					0	0	0.00185496	0	0
LRP12	29967	broad.mit.edu	37	8	105511743	105511743	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr8:105511743G>A	ENST00000276654.5	-	4	385	c.277C>T	c.(277-279)Cag>Tag	p.Q93*	LRP12_ENST00000424843.2_Nonsense_Mutation_p.Q74*	NM_013437.4	NP_038465.1	Q9Y561	LRP12_HUMAN	low density lipoprotein receptor-related protein 12	93	CUB 1.				endocytosis|regulation of growth	coated pit|integral to plasma membrane	low-density lipoprotein receptor activity|protein binding			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			TCAAAATCCTGAAAACTGAAA	0.299000													31	29					0	0	0.0024448	0	0
XKR7	343702	broad.mit.edu	37	20	30584444	30584444	+	Silent	SNP	C	C	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr20:30584444C>T	ENST00000217299.3	+	3	1098	c.924C>T	c.(922-924)ttC>ttT	p.F308F		NM_001011718.1	NP_001011718.1	Q5GH72	XKR7_HUMAN	XK, Kell blood group complex subunit-related family, member 7	308						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			GGCACCTGTTCAGCATTGCCG	0.642000													24	19					0	0	0.000878237	0	0
BIRC6	57448	broad.mit.edu	37	2	32800257	32800257	+	Silent	SNP	G	G	A	rs34145838		TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr2:32800257G>A	ENST00000421745.2	+	66	13313	c.13179G>A	c.(13177-13179)cgG>cgA	p.R4393R		NM_016252.3	NP_057336.3	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	4393					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					CACTCTATCGGGCACTGCTGG	0.458000													58	105					0	0	0.000781405	0	0
RRP12	23223	broad.mit.edu	37	10	99156022	99156022	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr10:99156022G>A	ENST00000370992.4	-	3	517	c.406C>T	c.(406-408)Cgc>Tgc	p.R136C	RRP12_ENST00000414986.1_Missense_Mutation_p.R136C|RRP12_ENST00000315563.6_Missense_Mutation_p.R136C	NM_015179.3	NP_055994.2	Q5JTH9	RRP12_HUMAN	ribosomal RNA processing 12 homolog (S. cerevisiae)	136						integral to membrane|nuclear membrane|nucleolus	protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(2)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Colorectal(252;0.162)		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)		CCCTGGGAGCGAATCACCTCA	0.562000													17	5					0	0	0.00152264	0	0
OR10Z1	128368	broad.mit.edu	37	1	158576582	158576582	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr1:158576582G>A	ENST00000361284.1	+	1	354	c.354G>A	c.(352-354)atG>atA	p.M118I		NM_001004478.1	NP_001004478.1	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z, member 1	118					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)					TGGCTGCCATGGGCTTTGACA	0.552000													11	21					0	0	0.000978159	0	0
PNMA1	9240	broad.mit.edu	37	14	74180022	74180022	+	Silent	SNP	G	G	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr14:74180022G>A	ENST00000316836.3	-	1	1106	c.321C>T	c.(319-321)ctC>ctT	p.L107L		NM_006029.4	NP_006020.4	Q8ND90	PNMA1_HUMAN	paraneoplastic Ma antigen 1	107					apoptosis|central nervous system development|inflammatory response to antigenic stimulus|spermatogenesis	cytoplasm|focal adhesion|nucleolus	protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|prostate(1)|urinary_tract(2)	13				BRCA - Breast invasive adenocarcinoma(234;0.00331)|KIRC - Kidney renal clear cell carcinoma(182;0.0797)		tagctaggaagaggtgcaatc	0.557000													28	42					0	0	0.000720815	0	0
IRF3	3661	broad.mit.edu	37	19	50165495	50165495	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr19:50165495G>A	ENST00000597198.1	-	6	1073	c.692C>T	c.(691-693)tCc>tTc	p.S231F	IRF3_ENST00000377139.3_Missense_Mutation_p.S231F|IRF3_ENST00000599223.1_Intron|IRF3_ENST00000599144.1_Missense_Mutation_p.S85F|IRF3_ENST00000600022.1_Intron|IRF3_ENST00000596822.1_Intron|IRF3_ENST00000596765.1_Intron|IRF3_ENST00000377135.4_Intron|IRF3_ENST00000309877.7_Missense_Mutation_p.S231F|IRF3_ENST00000598808.1_Missense_Mutation_p.S85F|IRF3_ENST00000601291.1_Missense_Mutation_p.S231F|IRF3_ENST00000593922.1_Missense_Mutation_p.S85F|IRF3_ENST00000600911.1_Missense_Mutation_p.S231F			Q14653	IRF3_HUMAN	interferon regulatory factor 3	231	Involved in HERC5 binding.				interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|response to virus|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytosol|endosome membrane|nucleoplasm|plasma membrane	DNA binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			breast(1)|large_intestine(2)|lung(4)|ovary(2)|stomach(1)	10		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.02)		TCCCACTTCGGACCCCACCAG	0.642000													17	23					0	0	0.000422831	0	0
KMT2D	8085	broad.mit.edu	37	12	49443655	49443655	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr12:49443655G>A	ENST00000301067.7	-	11	3715	c.3716C>T	c.(3715-3717)tCc>tTc	p.S1239F		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		CAACTCCATGGACAGGGAGCC	0.587000													22	23					0	0	0.000375601	0	0
NPAP1	23742	broad.mit.edu	37	15	24923572	24923572	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr15:24923572G>A	ENST00000329468.2	+	1	3032	c.2558G>A	c.(2557-2559)gGg>gAg	p.G853E		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		TTTTATATGGGGCTTCCTGGT	0.493000													25	30					0	0	0.000720815	0	0
AK7	122481	broad.mit.edu	37	14	96924440	96924440	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr14:96924440C>G	ENST00000267584.4	+	12	1292	c.1248C>G	c.(1246-1248)aaC>aaG	p.N416K		NM_152327.3	NP_689540.2	Q96M32	KAD7_HUMAN	adenylate kinase 7	416	Adenylate kinase.				cell projection organization	cytosol	adenylate kinase activity|ATP binding|cytidylate kinase activity			breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)		TTGCCCCTAACGATGTagggg	0.507000													11	18					0	0	0.000673444	0	0
KIF2B	84643	broad.mit.edu	37	17	51901099	51901099	+	Silent	SNP	C	C	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr17:51901099C>T	ENST00000268919.4	+	1	861	c.705C>T	c.(703-705)atC>atT	p.I235I		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	235	Kinesin-motor.				blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						ACCTGGATATCATCACCGTCC	0.552000													18	15					0	0	0.00074312	0	0
PCP4L1	654790	broad.mit.edu	37	1	161253506	161253506	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr1:161253506G>A	ENST00000504449.1	+	2	306	c.58G>A	c.(58-60)Gaa>Aaa	p.E20K		NM_001102566.1	NP_001096036.1	A6NKN8	PC4L1_HUMAN	Purkinje cell protein 4 like 1	20										endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4	all_cancers(52;4.16e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			TGGCCAAGAGGAAAAAGGTGA	0.418000													6	3					0	0	0.000157383	0	0
PNPLA4	8228	broad.mit.edu	37	X	7868853	7868853	+	Silent	SNP	G	G	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chrX:7868853G>A	ENST00000381042.4	-	7	806	c.636C>T	c.(634-636)tcC>tcT	p.S212S	PNPLA4_ENST00000444736.1_Silent_p.S212S|PNPLA4_ENST00000537427.1_Silent_p.S125S	NM_004650.2	NP_004641.1	P41247	PLPL4_HUMAN	patatin-like phospholipase domain containing 4	212					lipid catabolic process		triglyceride lipase activity			kidney(1)|large_intestine(3)|lung(2)|prostate(1)	7		Colorectal(8;0.0329)|Medulloblastoma(8;0.232)				GGTTTGCCAGGGACAACTAGA	0.358000													6	2					0	0	0.000157383	0	0
LRP5L	91355	broad.mit.edu	37	22	25753278	25753278	+	Silent	SNP	G	G	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr22:25753278G>A	ENST00000444995.3	-	5	1082	c.382C>T	c.(382-384)Ctg>Ttg	p.L128L	LRP5L_ENST00000402859.2_Silent_p.L128L|LRP5L_ENST00000402785.2_Silent_p.L128L			A4QPB2	LRP5L_HUMAN	low density lipoprotein receptor-related protein 5-like	128										central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(2)	6						TGCAGGTCCAGGGCCAGGCCG	0.612000													21	17					0	0	0.00188189	0	0
TSPAN8	7103	broad.mit.edu	37	12	71533616	71533616	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr12:71533616C>T	ENST00000393330.2	-	7	688	c.136G>A	c.(136-138)Gaa>Aaa	p.E46K	TSPAN8_ENST00000546561.1_Missense_Mutation_p.E46K|TSPAN8_ENST00000552786.1_5'UTR|TSPAN8_ENST00000247829.3_Missense_Mutation_p.E46K			P19075	TSN8_HUMAN	tetraspanin 8	46					protein glycosylation	integral to membrane|lysosome	signal transducer activity			breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(3)|lung(7)|skin(3)|urinary_tract(1)	19			LUSC - Lung squamous cell carcinoma(43;0.24)|OV - Ovarian serous cystadenocarcinoma(12;0.244)			CCTACATCTTCAGAACCAAAA	0.393000													41	42					0	0	0.00195071	0	0
PI3	5266	broad.mit.edu	37	20	43804764	43804764	+	Silent	SNP	C	C	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr20:43804764C>T	ENST00000243924.3	+	2	389	c.342C>T	c.(340-342)ttC>ttT	p.F114F		NM_002638.3	NP_002629.1	P19957	ELAF_HUMAN	peptidase inhibitor 3, skin-derived	114	WAP.				copulation	proteinaceous extracellular matrix	serine-type endopeptidase inhibitor activity			large_intestine(1)|lung(5)|skin(1)	7		Myeloproliferative disorder(115;0.0122)				TGGCCTGTTTCGTTCCCCAGT	0.567000													28	13					0	0	0.00209593	0	0
EPHA10	284656	broad.mit.edu	37	1	38230662	38230662	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr1:38230662C>T	ENST00000373048.4	-	1	76	c.77G>A	c.(76-78)gGa>gAa	p.G26E	EPHA10_ENST00000427468.2_Missense_Mutation_p.G26E|EPHA10_ENST00000319637.6_Missense_Mutation_p.G26E	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN	EPH receptor A10	26						extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity			NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CCGCCAGGGTCCCAAAAGCAG	0.652000													5	8					0	0	0.00116845	0	0
MCF2	4168	broad.mit.edu	37	X	138680593	138680593	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chrX:138680593C>T	ENST00000520602.1	-	20	2366	c.2081G>A	c.(2080-2082)cGa>cAa	p.R694Q	MCF2_ENST00000370573.4_Missense_Mutation_p.R634Q|MCF2_ENST00000519895.1_Missense_Mutation_p.R710Q|MCF2_ENST00000370576.4_Missense_Mutation_p.R634Q|MCF2_ENST00000536274.1_Missense_Mutation_p.R595Q|MCF2_ENST00000338585.6_Missense_Mutation_p.R650Q|MCF2_ENST00000370578.4_Missense_Mutation_p.R779Q|MCF2_ENST00000414978.1_Missense_Mutation_p.R694Q			P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence	634	PH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|membrane|membrane fraction	protein binding|Rho guanyl-nucleotide exchange factor activity			NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62	Acute lymphoblastic leukemia(192;0.000127)					TTTAGTGATTCGTTGCACTGG	0.279000													11	3					0	0	0.000422831	0	0
PTPN2	5771	broad.mit.edu	37	18	12802114	12802114	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr18:12802114G>A	ENST00000309660.5	-	8	988	c.895C>T	c.(895-897)Cct>Tct	p.P299S	PTPN2_ENST00000591497.1_Missense_Mutation_p.P270S|PTPN2_ENST00000591115.1_Missense_Mutation_p.P322S|PTPN2_ENST00000353319.4_Missense_Mutation_p.P299S|PTPN2_ENST00000327283.3_Missense_Mutation_p.P299S	NM_002828.3	NP_002819.2	P17706	PTN2_HUMAN	protein tyrosine phosphatase, non-receptor type 2	299					interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway	endoplasmic reticulum|nucleoplasm	protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|prostate(1)|skin(3)	13		Lung NSC(161;8.94e-06)				TCAAAGGCAGGAGATAAGTCT	0.328000													22	29					0	0	0.000586117	0	0
DNM2	1785	broad.mit.edu	37	19	10934479	10934479	+	Silent	SNP	C	C	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr19:10934479C>T	ENST00000314646.5	+	17	1961	c.1797C>T	c.(1795-1797)gaC>gaT	p.D599D	DNM2_ENST00000585892.1_Silent_p.D599D|DNM2_ENST00000408974.4_Silent_p.D595D|DNM2_ENST00000389253.4_Silent_p.D599D|DNM2_ENST00000359692.6_Silent_p.D595D|DNM2_ENST00000355667.6_Silent_p.D599D			P50570	DYN2_HUMAN	dynamin 2	599	PH.				G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport	cell junction|cytosol|Golgi membrane|microtubule|postsynaptic density|postsynaptic membrane	GTP binding|GTPase activity|microtubule binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	42			Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)			TCTACAAGGACCTGCGGCAGA	0.637000			"""F, N, Splice, Mis, O"""		ETP ALL								6	34					0	0	0.00116845	0	0
UNC13C	440279	broad.mit.edu	37	15	54792317	54792317	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr15:54792317G>A	ENST00000545554.1	+	20	5101	c.5101G>A	c.(5101-5103)Gaa>Aaa	p.E1701K	UNC13C_ENST00000260323.11_Missense_Mutation_p.E1701K|UNC13C_ENST00000537900.1_Missense_Mutation_p.E1699K			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1701	MHD1.				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		AGATGAAAACGAAGATGTGTC	0.348000													6	8					0	0	0.000274275	0	0
TEX15	56154	broad.mit.edu	37	8	30703654	30703654	+	Silent	SNP	G	G	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr8:30703654G>A	ENST00000256246.2	-	1	2954	c.2880C>T	c.(2878-2880)tcC>tcT	p.S960S		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	960										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		TTCGTCCTTGGGATAATGAAG	0.343000													49	36					0	0	0.000781405	0	0
FNIP2	57600	broad.mit.edu	37	4	159790132	159790132	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr4:159790132C>T	ENST00000264433.6	+	13	2419	c.2344C>T	c.(2344-2346)Cgg>Tgg	p.R782W	FNIP2_ENST00000379346.3_Missense_Mutation_p.R805W	NM_020840.1	NP_065891.1	Q9P278	FNIP2_HUMAN	folliculin interacting protein 2	782	Interaction with PRKAA1.				DNA damage response, signal transduction resulting in induction of apoptosis|protein phosphorylation|regulation of protein phosphorylation	cytoplasm	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	9	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.00936)		TCCTCAGAATCGGCTTTCAGA	0.547000													22	30					0	0	0.00229938	0	0
ABHD4	63874	broad.mit.edu	37	14	23072902	23072902	+	Silent	SNP	A	A	C			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr14:23072902A>C	ENST00000428304.2	+	4	628	c.558A>C	c.(556-558)gcA>gcC	p.A186A	ABHD4_ENST00000544562.1_3'UTR	NM_022060.2	NP_071343.2	Q8TB40	ABHD4_HUMAN	abhydrolase domain containing 4	186					lipid catabolic process		hydrolase activity			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(3)|lung(3)|prostate(1)	14	all_cancers(95;5.49e-05)			GBM - Glioblastoma multiforme(265;0.0153)		AGATCCGTGCACCCCCAGCCT	0.552000													16	28					0	0	0.000958276	0	0
SLAMF6	114836	broad.mit.edu	37	1	160461134	160461134	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr1:160461134G>A	ENST00000368059.3	-	3	496	c.427C>T	c.(427-429)Cag>Tag	p.Q143*	SLAMF6_ENST00000368055.1_Nonsense_Mutation_p.Q32*|SLAMF6_ENST00000368057.3_Nonsense_Mutation_p.Q143*	NM_001184714.1|NM_001184715.1|NM_001184716.1|NM_052931.4	NP_001171643.1|NP_001171644.1|NP_001171645.1|NP_443163.1	Q96DU3	SLAF6_HUMAN	SLAM family member 6	143	Ig-like.					integral to membrane|plasma membrane	receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(4)	22	all_cancers(52;1.05e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0923)			GTCATATTCTGAAATAGCTGA	0.433000													30	18					0	0	0.00178596	0	0
MUC5B	727897	broad.mit.edu	37	11	1268882	1268882	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr11:1268882C>T	ENST00000447027.1	+	31	10839	c.10781C>T	c.(10780-10782)tCt>tTt	p.S3594F	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000529681.1_Missense_Mutation_p.S3591F			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	3591	7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398).	cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CCGGGGCCCTCTGGCGGGGAC	0.682000													15	26					0	0	0.000958276	0	0
AGPAT6	137964	broad.mit.edu	37	8	41456738	41456738	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr8:41456738T>A	ENST00000396987.3	+	2	1007	c.80T>A	c.(79-81)cTc>cAc	p.L27H		NM_178819.3	NP_848934.1	Q86UL3	GPAT4_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 6	27					acyl-CoA metabolic process|lactation|phosphatidylcholine biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|membrane fraction	glycerol-3-phosphate O-acyltransferase activity			endometrium(3)|kidney(2)|large_intestine(3)|lung(6)	14	Ovarian(28;0.00769)|Colorectal(14;0.0202)|Lung SC(25;0.211)	all_lung(54;0.0131)|Lung NSC(58;0.0363)|Hepatocellular(245;0.0462)|Esophageal squamous(32;0.0844)	OV - Ovarian serous cystadenocarcinoma(14;0.00126)|Colorectal(10;0.0014)|Lung(22;0.00177)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0147)			ACCCTCCTTCTCGTTTTCATC	0.463000													65	41					0	0	0.000781405	0	0
RNPEPL1	57140	broad.mit.edu	37	2	241513566	241513566	+	Silent	SNP	C	C	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr2:241513566C>T	ENST00000270357.3	+	5	875	c.282C>T	c.(280-282)atC>atT	p.I94I		NM_018226.4	NP_060696.4	Q9HAU8	RNPL1_HUMAN	arginyl aminopeptidase (aminopeptidase B)-like 1	94					leukotriene biosynthetic process|proteolysis		aminopeptidase activity|metallopeptidase activity|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	13		all_epithelial(40;1.13e-11)|Breast(86;0.000169)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.204)|Melanoma(123;0.238)		Epithelial(32;3.05e-31)|all cancers(36;8.2e-29)|OV - Ovarian serous cystadenocarcinoma(60;8.55e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.12e-06)|Lung(119;0.00168)|Colorectal(34;0.005)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.0322)		CCTTCCCCATCGTGGCCATGG	0.622000													5	33					0	0	0.00198382	0	0
LRRC52	440699	broad.mit.edu	37	1	165532895	165532895	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr1:165532895G>A	ENST00000294818.1	+	2	1066	c.776G>A	c.(775-777)gGa>gAa	p.G259E	RP11-280O1.2_ENST00000438275.1_RNA|RP11-280O1.2_ENST00000416424.1_RNA|RP11-280O1.2_ENST00000421273.1_RNA	NM_001005214.3	NP_001005214.2	Q8N7C0	LRC52_HUMAN	leucine rich repeat containing 52	259						integral to membrane				NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)	18	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)					TTCGCCGCGGGAACTGTGGCT	0.592000													16	27					0	0	0.000958276	0	0
IL1RL2	8808	broad.mit.edu	37	2	102805609	102805609	+	Silent	SNP	C	C	T	rs111747917	byFrequency	TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr2:102805609C>T	ENST00000264257.2	+	3	258	c.132C>T	c.(130-132)ttC>ttT	p.F44F	IL1RL2_ENST00000481806.1_Intron|IL1RL2_ENST00000539491.1_Silent_p.F44F|IL1RL2_ENST00000441515.2_Intron	NM_003854.2	NP_003845.2	Q9HB29	ILRL2_HUMAN	interleukin 1 receptor-like 2	44	Ig-like C2-type 1.				cellular defense response|innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|liver(2)|lung(8)|ovary(2)|prostate(1)	26						ATTGTACATTCCCTCCCATAA	0.368000													47	24					0	0	0.000781405	0	0
C8orf4	56892	broad.mit.edu	37	8	40011117	40011117	+	Silent	SNP	C	C	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr8:40011117C>T	ENST00000315792.3	+	1	129	c.66C>T	c.(64-66)atC>atT	p.I22I		NM_020130.4	NP_064515.1	Q9NR00	CH004_HUMAN	chromosome 8 open reading frame 4	22					apoptosis					breast(1)|large_intestine(1)|ovary(1)	3	Ovarian(28;0.0173)	all_cancers(7;5.34e-21)|all_epithelial(6;1.04e-14)|Lung NSC(58;9.35e-06)|all_lung(54;1.39e-05)|Hepatocellular(245;0.00745)|Breast(189;0.0334)|Colorectal(162;0.0815)|Myeloproliferative disorder(644;0.116)|Esophageal squamous(32;0.141)	LUSC - Lung squamous cell carcinoma(45;0.000149)	KIRC - Kidney renal clear cell carcinoma(67;0.0923)|Kidney(114;0.111)		GCCCATCCATCCATGGCTACC	0.517000													12	39					0	0	0.00185496	0	0
OR6C2	341416	broad.mit.edu	37	12	55846191	55846191	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr12:55846191C>T	ENST00000322678.1	+	1	194	c.194C>T	c.(193-195)tCc>tTc	p.S65F	RP11-110A12.2_ENST00000554049.1_RNA|RP11-110A12.2_ENST00000555146.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA	NM_054105.1	NP_473446.1	Q9NZP2	OR6C2_HUMAN	olfactory receptor, family 6, subfamily C, member 2	65					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(2)|large_intestine(5)|lung(8)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	23						AGAAATTTTTCCTTCTTAGAA	0.398000													10	16					0	0	0.000442599	0	0
MYO9B	4650	broad.mit.edu	37	19	17283772	17283772	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr19:17283772G>A	ENST00000595618.1	+	13	2292	c.2140_splice	c.e13+1	p.G714_splice	MYO9B_ENST00000397274.2_Splice_Site_p.G714_splice|MYO9B_ENST00000594824.1_Splice_Site_p.G714_splice	NM_001130065.1|NM_004145.3	NP_001123537.1|NP_004136.2	Q13459	MYO9B_HUMAN	myosin IXB	714	Myosin head-like.				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						AAAGGCTGCAGGTGGGAGCTG	0.622000													4	14					0	0	0.000602214	0	0
ALDH1L1	10840	broad.mit.edu	37	3	125824752	125824752	+	Silent	SNP	G	G	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr3:125824752G>A	ENST00000393434.2	-	22	2819	c.2470C>T	c.(2470-2472)Ctg>Ttg	p.L824L	ALDH1L1_ENST00000452905.2_Silent_p.L723L|ALDH1L1_ENST00000273450.3_Silent_p.L834L|ALDH1L1-AS1_ENST00000512384.1_RNA|ALDH1L1_ENST00000393431.2_3'UTR|ALDH1L1_ENST00000472186.1_Silent_p.L824L	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	824	Aldehyde dehydrogenase.				10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	GCCCGAGACAGCACGGCATCC	0.607000													20	14					0	0	0.00152264	0	0
COL4A6	1288	broad.mit.edu	37	X	107408128	107408128	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chrX:107408128G>T	ENST00000334504.7	-	39	4182	c.3949C>A	c.(3949-3951)Cct>Act	p.P1317T	COL4A6_ENST00000394872.2_Missense_Mutation_p.P1318T|COL4A6_ENST00000545689.1_Missense_Mutation_p.P1293T|COL4A6_ENST00000372216.4_Missense_Mutation_p.P1318T|COL4A6_ENST00000538570.1_Missense_Mutation_p.P1293T	NM_033641.2	NP_378667.1	Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	1318	Triple-helical region.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						AGCTCTCCAGGGAGGCCAGAA	0.597000									Alport syndrome with Diffuse Leiomyomatosis				13	4					2.61681e-11	1.16239e-10	0.000219431	1	0
CCDC178	374864	broad.mit.edu	37	18	30803134	30803134	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr18:30803134C>T	ENST00000383096.3	-	18	2050	c.1868G>A	c.(1867-1869)gGa>gAa	p.G623E	CCDC178_ENST00000579947.1_Missense_Mutation_p.G623E|CCDC178_ENST00000402325.1_Missense_Mutation_p.G623E|CCDC178_ENST00000583930.1_Missense_Mutation_p.G623E|CCDC178_ENST00000300227.8_Intron|CCDC178_ENST00000403303.1_Missense_Mutation_p.G623E|CCDC178_ENST00000579916.1_Intron|CCDC178_ENST00000406524.2_Missense_Mutation_p.G623E					coiled-coil domain containing 178																		CTTTACTTTTCCCACCTTTCT	0.299000													7	7					0	0	0.00198382	0	0
SETBP1	26040	broad.mit.edu	37	18	42531392	42531392	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr18:42531392C>T	ENST00000282030.5	+	4	2383	c.2087C>T	c.(2086-2088)cCa>cTa	p.P696L		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	696						nucleus	DNA binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		AAAGCTCCCCCAGAGACCAGC	0.488000									Schinzel-Giedion syndrome				5	13					0	0	0.00116845	0	0
DSCR9	257203	broad.mit.edu	37	21	38593925	38593925	+	RNA	SNP	G	G	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr21:38593925G>A	ENST00000454482.2	+	0	1532				AP001432.14_ENST00000440629.1_lincRNA	NR_026719.2																						TACTCTGCATGAAGCCCTGGG	0.512000													15	8					0	0	0.000219431	0	0
FSTL5	56884	broad.mit.edu	37	4	162421234	162421234	+	Silent	SNP	C	C	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr4:162421234C>T	ENST00000306100.5	-	12	1828	c.1392G>A	c.(1390-1392)gtG>gtA	p.V464V	FSTL5_ENST00000536695.1_Silent_p.V463V|FSTL5_ENST00000379164.4_Silent_p.V463V|FSTL5_ENST00000427802.2_Silent_p.V454V	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	464						extracellular region	calcium ion binding			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		TGGGTTGTATCACTTTGATTC	0.318000													6	18					0	0	0.00116845	0	0
COL11A1	1301	broad.mit.edu	37	1	103491421	103491421	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr1:103491421C>T	ENST00000358392.2	-	6	1185	c.868G>A	c.(868-870)Gaa>Aaa	p.E290K	COL11A1_ENST00000512756.1_Intron|COL11A1_ENST00000370096.3_Intron|COL11A1_ENST00000353414.4_Intron	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	292	Nonhelical 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			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)		GAAAATTTTTCAGATTTGGGG	0.348000													44	56					0	0	0.000680045	0	0
PCDHA2	56146	broad.mit.edu	37	5	140174643	140174643	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr5:140174643C>T	ENST00000526136.1	+	1	94	c.94C>T	c.(94-96)Cgc>Tgc	p.R32C	PCDHA2_ENST00000378132.1_Missense_Mutation_p.R32C|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000520672.2_Missense_Mutation_p.R32C	NM_018905.2	NP_061728.1														NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGCCAGCTCCGCTACTCCGT	0.682000													12	24					0	0	0.000978159	0	0
CHD1	1105	broad.mit.edu	37	5	98194037	98194037	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr5:98194037G>A	ENST00000284049.3	-	34	4783	c.4634C>T	c.(4633-4635)tCc>tTc	p.S1545F		NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1	1545					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding			NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	TCTATCAGAGGAATAACTGTC	0.338000													36	40					0	0	0.000781405	0	0
SCN11A	11280	broad.mit.edu	37	3	38936362	38936362	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr3:38936362G>A	ENST00000302328.3	-	15	2695	c.2497C>T	c.(2497-2499)Cag>Tag	p.Q833*	SCN11A_ENST00000444237.2_Nonsense_Mutation_p.Q833*|SCN11A_ENST00000456224.3_Nonsense_Mutation_p.Q833*|SCN11A_ENST00000450244.1_Nonsense_Mutation_p.Q833*	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	833					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.Q833K(1)		NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	AGTGCTAACTGGACTTTAGTT	0.453000													17	32					0	0	0.000422831	0	0
BRINP2	57795	broad.mit.edu	37	1	177226357	177226357	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr1:177226357G>A	ENST00000361539.4	+	4	818	c.506G>A	c.(505-507)aGa>aAa	p.R169K	FAM5B_ENST00000478325.1_3'UTR	NM_021165.2	NP_066988.1	Q9C0B6	FAM5B_HUMAN		169						extracellular region				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	94						AAACTGGGAAGAAAGACAGAG	0.542000													16	55					0	0	0.000958276	0	0
CD19	930	broad.mit.edu	37	16	28948595	28948595	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr16:28948595C>T	ENST00000538922.1	+	9	1264	c.1202C>T	c.(1201-1203)cCa>cTa	p.P401L	CD19_ENST00000567541.1_Missense_Mutation_p.P401L|CD19_ENST00000324662.3_Missense_Mutation_p.P401L	NM_001178098.1|NM_001770.5	NP_001171569.1|NP_001761.3	P15391	CD19_HUMAN	CD19 molecule	401					cellular defense response	external side of plasma membrane|integral to plasma membrane	protein binding|receptor signaling protein activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(4)|urinary_tract(1)	29						CCCCCAGGCCCAGAAGAAGAG	0.622000													16	7					0	0	0.000566183	0	0
KIF13A	63971	broad.mit.edu	37	6	17764900	17764900	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr6:17764900G>A	ENST00000378814.5	-	37	4714	c.4715C>T	c.(4714-4716)tCa>tTa	p.S1572L	KIF13A_ENST00000259711.6_Missense_Mutation_p.S1620L|KIF13A_ENST00000378843.2_Missense_Mutation_p.S1572L|KIF13A_ENST00000378816.5_Missense_Mutation_p.S1585L|KIF13A_ENST00000378826.2_Missense_Mutation_p.S1585L	NM_001105568.2	NP_001099038.1	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	1620					cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			CAGCTGGTCTGAGCTGTCACT	0.542000													10	18					0	0	0.00136819	0	0
PSMD1	5707	broad.mit.edu	37	2	232018339	232018339	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr2:232018339C>T	ENST00000308696.6	+	19	2339	c.2177C>T	c.(2176-2178)gCc>gTc	p.A726V	PSMD1_ENST00000409643.1_Missense_Mutation_p.A726V|PSMD1_ENST00000373635.4_Missense_Mutation_p.A726V	NM_002807.3	NP_002798.2	Q99460	PSMD1_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 1	726					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|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	enzyme regulator activity|protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)	31		Ovarian(221;0.000626)|Medulloblastoma(418;0.0109)|Renal(207;0.0112)|Lung NSC(271;0.0538)|all_lung(227;0.0713)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;4e-26)|LUSC - Lung squamous cell carcinoma(224;0.0138)|Lung(119;0.0168)	Bortezomib(DB00188)	GATGTCATGGCCAAGTTTGGC	0.353000													33	61					0	0	0.00195071	0	0
USP24	23358	broad.mit.edu	37	1	55599781	55599781	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr1:55599781G>A	ENST00000294383.6	-	30	3342	c.3343C>T	c.(3343-3345)Cag>Tag	p.Q1115*	USP24_ENST00000407756.1_Nonsense_Mutation_p.Q955*	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN	ubiquitin specific peptidase 24	1115					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						AGGGCTTCCTGAATGGCTGGA	0.343000													6	5					0	0	0.000157383	0	0
ZNF629	23361	broad.mit.edu	37	16	30793710	30793710	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr16:30793710G>A	ENST00000262525.4	-	3	2146	c.1939C>T	c.(1939-1941)Cag>Tag	p.Q647*		NM_001080417.1	NP_001073886.1	Q9UEG4	ZN629_HUMAN	zinc finger protein 629	647					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(3)|urinary_tract(1)	22			Colorectal(24;0.198)			AAGCCCTCCTGACCCTCCGGC	0.657000													4	7					0	0	0.00024832	0	0
EVC2	132884	broad.mit.edu	37	4	5690978	5690978	+	Silent	SNP	G	G	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr4:5690978G>A	ENST00000310917.2	-	5	1103	c.372C>T	c.(370-372)ctC>ctT	p.L124L	EVC2_ENST00000344938.1_Silent_p.L204L|EVC2_ENST00000344408.5_Silent_p.L204L	NM_001166136.1	NP_001159608.1	Q86UK5	LBN_HUMAN	Ellis van Creveld syndrome 2	204						integral to membrane				NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						TGTCCAGCAAGAGCAGCTCCG	0.527000													36	30					0	0	0.000491102	0	0
AFF1	4299	broad.mit.edu	37	4	88035744	88035744	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr4:88035744C>T	ENST00000307808.6	+	11	2158	c.1738C>T	c.(1738-1740)Ccc>Tcc	p.P580S	AFF1_ENST00000544085.1_Missense_Mutation_p.P218S|AFF1_ENST00000395146.4_Missense_Mutation_p.P587S	NM_005935.2	NP_005926.1	P51825	AFF1_HUMAN	AF4/FMR2 family, member 1	580						nucleus	sequence-specific DNA binding transcription factor activity			breast(1)|large_intestine(2)	3		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000233)		AGCCCCCCACCCCGGAAAGAG	0.597000													12	5					0	0	0.00185496	0	0
DACT1	51339	broad.mit.edu	37	14	59113370	59113370	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr14:59113370C>T	ENST00000395153.3	+	4	2065	c.1918C>T	c.(1918-1920)Cgg>Tgg	p.R640W	DACT1_ENST00000335867.4_Missense_Mutation_p.R677W|DACT1_ENST00000395151.3_Missense_Mutation_p.R396W|DACT1_ENST00000541264.2_Missense_Mutation_p.R396W|DACT1_ENST00000556859.1_Missense_Mutation_p.R396W	NM_001079520.1|NM_016651.5	NP_001072988.1|NP_057735.2	Q9NYF0	DACT1_HUMAN	dishevelled-binding antagonist of beta-catenin 1	677					multicellular organismal development|Wnt receptor signaling pathway	cytoplasm|nucleus				endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						AACTGACTACCGGCGGTGGAA	0.721000													7	11					0	0	0.000274275	0	0
CDK11B	984	broad.mit.edu	37	1	1572330	1572330	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr1:1572330G>A	ENST00000407249.3	-	17	1737	c.1738C>T	c.(1738-1740)Cct>Tct	p.P580S	CDK11B_ENST00000341832.6_Missense_Mutation_p.P533S|CDK11B_ENST00000340677.5_Missense_Mutation_p.P567S|CDK11B_ENST00000317673.7_Missense_Mutation_p.P578S			P21127	CD11B_HUMAN	cyclin-dependent kinase 11B	590	Protein kinase.				apoptosis|cell proliferation|mitosis|regulation of cell growth|regulation of mRNA processing|regulation of transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity|protein binding			endometrium(2)|large_intestine(3)|lung(4)|skin(1)|stomach(2)	12						GCCTTCAGAGGGGATCCGTAC	0.687000													7	16					0	0	0.000157383	0	0
LY6G6C	80740	broad.mit.edu	37	6	31687076	31687076	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr6:31687076C>T	ENST00000375819.2	-	3	340	c.175G>A	c.(175-177)Gtt>Att	p.V59I	LY6G6C_ENST00000495859.1_Missense_Mutation_p.V3I	NM_025261.2	NP_079537.1	O95867	LY66C_HUMAN	lymphocyte antigen 6 complex, locus G6C	59	UPAR/Ly6.					anchored to membrane|plasma membrane				NS(1)|large_intestine(1)|lung(1)|skin(1)	4						TTGGAGAAAACCCACATCTTA	0.587000													76	77					0	0	0.000781405	0	0
APOL3	80833	broad.mit.edu	37	22	36538042	36538042	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr22:36538042C>T	ENST00000397293.2	-	4	549	c.202G>A	c.(202-204)Gaa>Aaa	p.E68K	APOL3_ENST00000487423.1_5'UTR|APOL3_ENST00000361710.2_5'UTR|APOL3_ENST00000349314.2_Missense_Mutation_p.E139K|APOL3_ENST00000397287.2_5'UTR|APOL3_ENST00000424878.2_5'UTR			O95236	APOL3_HUMAN	apolipoprotein L, 3	139					inflammatory response|lipoprotein metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|extracellular region	lipid binding|lipid transporter activity|signal transducer activity			endometrium(2)|large_intestine(1)|lung(1)|stomach(1)	5						TGCACATATTCGTCCTCAATA	0.438000													43	22					0	0	0.000680045	0	0
CRB1	23418	broad.mit.edu	37	1	197411332	197411332	+	Silent	SNP	G	G	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr1:197411332G>T	ENST00000367400.3	+	11	4050	c.3915G>T	c.(3913-3915)ccG>ccT	p.P1305P	CRB1_ENST00000367399.2_Silent_p.P1193P|RP11-75C23.1_ENST00000422250.1_RNA|CRB1_ENST00000535699.1_Silent_p.P1281P|CRB1_ENST00000544212.1_Silent_p.P786P|CRB1_ENST00000367397.1_3'UTR|CRB1_ENST00000538660.1_Silent_p.P769P	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	1305	EGF-like 19; calcium-binding (Potential).				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						CCTCTGATCCGTGTGTCAATG	0.493000													37	96					3.61848e-18	1.62371e-17	0.00170553	1	0
UROC1	131669	broad.mit.edu	37	3	126220114	126220114	+	Silent	SNP	C	C	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr3:126220114C>T	ENST00000290868.2	-	10	965	c.912G>A	c.(910-912)agG>agA	p.R304R	UROC1_ENST00000383579.3_Silent_p.R364R	NM_144639.2	NP_653240.1	Q96N76	HUTU_HUMAN	urocanate hydratase 1	304					histidine catabolic process	cytosol	urocanate hydratase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1)	39				GBM - Glioblastoma multiforme(114;0.17)		CCTTTTTTTTCCTTGCTTCCC	0.582000													19	16					0	0	0.000375601	0	0
MFSD2B	388931	broad.mit.edu	37	2	24239723	24239723	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr2:24239723G>A	ENST00000338315.4	+	4	356	c.356G>A	c.(355-357)gGc>gAc	p.G119D	MFSD2B_ENST00000406420.3_Missense_Mutation_p.G119D			A6NFX1	MFS2B_HUMAN	major facilitator superfamily domain containing 2B	119					transport	integral to membrane				cervix(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	10						AGGGTGCTGGGCTGCACCCCC	0.657000													18	10					0	0	0.00188189	0	0
NR2E1	7101	broad.mit.edu	37	6	108497891	108497891	+	Silent	SNP	C	C	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr6:108497891C>T	ENST00000368986.4	+	4	1152	c.444C>T	c.(442-444)tcC>tcT	p.S148S	NR2E1_ENST00000484978.1_3'UTR|NR2E1_ENST00000368983.3_Silent_p.S185S	NM_003269.3	NP_003260.1	Q9Y466	NR2E1_HUMAN	nuclear receptor subfamily 2, group E, member 1	148					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(16)|prostate(1)|skin(3)	30		all_cancers(87;8.13e-05)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00866)|Colorectal(196;0.0637)		BRCA - Breast invasive adenocarcinoma(108;0.013)|Epithelial(106;0.0521)|all cancers(137;0.068)|OV - Ovarian serous cystadenocarcinoma(136;0.0689)		CCGCGGTGTCCACCACTCCAG	0.716000													7	0					0	0	0.000157383	0	0
STIM2	57620	broad.mit.edu	37	4	27010621	27010621	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr4:27010621C>T	ENST00000382009.3	+	11	2038	c.1771C>T	c.(1771-1773)Ccc>Tcc	p.P591S	STIM2_ENST00000412829.2_Missense_Mutation_p.P583S|STIM2_ENST00000467087.1_Missense_Mutation_p.P496S|STIM2_ENST00000467011.1_Missense_Mutation_p.P496S|STIM2_ENST00000237364.5_Missense_Mutation_p.P583S|STIM2_ENST00000465503.1_Missense_Mutation_p.P504S	NM_001169118.1	NP_001162589.1	Q9P246	STIM2_HUMAN	stromal interaction molecule 2	496					activation of store-operated calcium channel activity|calcium ion transport|cellular calcium ion homeostasis|negative regulation of calcium ion transport via store-operated calcium channel activity	endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium channel regulator activity|calcium ion binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	25		Breast(46;0.0503)				GTCACAATTTCCCGGTAAGTG	0.418000													12	19					0	0	0.00185496	0	0
PTCH1	5727	broad.mit.edu	37	9	98231241	98231241	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr9:98231241G>A	ENST00000430669.2	-	14	2429	c.1844C>T	c.(1843-1845)cCg>cTg	p.P615L	PTCH1_ENST00000331920.6_Missense_Mutation_p.P681L|PTCH1_ENST00000429896.2_Missense_Mutation_p.P530L|PTCH1_ENST00000375274.2_Missense_Mutation_p.P680L|PTCH1_ENST00000418258.1_Missense_Mutation_p.P530L|PTCH1_ENST00000437951.1_Missense_Mutation_p.P615L|PTCH1_ENST00000421141.1_Missense_Mutation_p.P530L			Q13635	PTC1_HUMAN	patched 1	681					embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity	p.P681L(3)|p.P680L(2)		NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				CTCGGAGCGCGGCTCAGCGGT	0.622000													37	6					0	0	0.00111076	0	0
ANKS1B	56899	broad.mit.edu	37	12	99223131	99223131	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr12:99223131C>T	ENST00000547776.2	-	19	2886	c.2886_splice	c.e19-1	p.E963_splice	ANKS1B_ENST00000549493.2_Splice_Site_p.E189_splice|ANKS1B_ENST00000547446.1_Intron|ANKS1B_ENST00000546960.1_Splice_Site_p.E189_splice|ANKS1B_ENST00000549025.2_Intron|ANKS1B_ENST00000549558.2_Intron|ANKS1B_ENST00000547010.1_Intron|ANKS1B_ENST00000333732.7_5'UTR|ANKS1B_ENST00000546568.1_Intron|ANKS1B_ENST00000341752.7_5'UTR|ANKS1B_ENST00000332712.7_Intron|ANKS1B_ENST00000550693.2_Intron|ANKS1B_ENST00000329257.7_Splice_Site_p.E963_splice	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B	963						Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		CCACTGGGTTCCTGAATGGAA	0.443000													11	13					0	0	0.00136819	0	0
LY75	4065	broad.mit.edu	37	2	160708726	160708726	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr2:160708726G>A	ENST00000263636.4	-	21	2896	c.2869C>T	c.(2869-2871)Cct>Tct	p.P957S	LY75_ENST00000554112.1_Missense_Mutation_p.P957S|LY75_ENST00000553424.1_Missense_Mutation_p.P957S|LY75-CD302_ENST00000505052.1_Missense_Mutation_p.P957S|LY75-CD302_ENST00000504764.1_Missense_Mutation_p.P957S	NM_002349.3	NP_002340.2			lymphocyte antigen 75											NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	59				COAD - Colon adenocarcinoma(177;0.132)		TTCTGAAAAGGAATCCATTGC	0.378000													21	18					0	0	0.00229938	0	0
SYT10	341359	broad.mit.edu	37	12	33538203	33538203	+	Silent	SNP	G	G	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr12:33538203G>A	ENST00000228567.3	-	4	1397	c.1101C>T	c.(1099-1101)atC>atT	p.I367I	SYT10_ENST00000535526.1_Silent_p.I186I	NM_198992.3	NP_945343.1	Q6XYQ8	SYT10_HUMAN	synaptotagmin X	367	C2 2.					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					GGGAAAACATGATTTCACCCA	0.398000													5	7					0	0	0.00198382	0	0
RYBP	23429	broad.mit.edu	37	3	72495776	72495776	+	Silent	SNP	C	C	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr3:72495776C>A	ENST00000477973.1	-	1	293	c.294G>T	c.(292-294)cgG>cgT	p.R98R		NM_012234.5	NP_036366.3	Q8N488	RYBP_HUMAN	RING1 and YY1 binding protein	0	Lys-rich.				apoptosis|histone H2A monoubiquitination|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleoplasm	DNA binding|protein binding|transcription corepressor activity|zinc ion binding			prostate(1)|upper_aerodigestive_tract(1)	2		Prostate(10;0.00174)|Lung NSC(201;0.0659)|Myeloproliferative disorder(1037;0.204)		BRCA - Breast invasive adenocarcinoma(55;0.000197)|Epithelial(33;0.00068)|LUSC - Lung squamous cell carcinoma(21;0.00228)|Lung(16;0.00677)|KIRC - Kidney renal clear cell carcinoma(39;0.198)|Kidney(39;0.232)		TTTTGGCCTTCCGAGGAGTGG	0.542000													4	32					2.56e-06	1.12956e-05	0.00024832	1	0
HSPA8	3312	broad.mit.edu	37	11	122930895	122930895	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr11:122930895C>A	ENST00000534624.1	-	4	769	c.493G>T	c.(493-495)Gct>Tct	p.A165S	HSPA8_ENST00000526862.1_5'UTR|HSPA8_ENST00000227378.3_Missense_Mutation_p.A165S|HSPA8_ENST00000534319.1_5'UTR|HSPA8_ENST00000533540.1_Intron|HSPA8_ENST00000532636.1_Missense_Mutation_p.A165S|HSPA8_ENST00000453788.2_Missense_Mutation_p.A165S|HSPA8_ENST00000526110.1_Missense_Mutation_p.A146S	NM_006597.4	NP_006588.1	P11142	HSP7C_HUMAN	heat shock 70kDa protein 8	165					cellular membrane organization|interspecies interaction between organisms|mRNA metabolic process|negative regulation of transcription, DNA-dependent|neurotransmitter secretion|post-Golgi vesicle-mediated transport|protein folding|response to unfolded protein|transcription, DNA-dependent	cell surface|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|melanosome|plasma membrane|ribonucleoprotein complex	ATP binding|ATPase activity, coupled|protein binding			breast(1)|central_nervous_system(7)|endometrium(1)|kidney(9)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	36		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		TTGAGACCAGCAATAGTTCCA	0.423000													6	60					0.00116845	0.00507094	0.00116845	1	0
DDX19A	55308	broad.mit.edu	37	16	70404177	70404177	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr16:70404177C>T	ENST00000302243.7	+	10	1235	c.1072C>T	c.(1072-1074)Cag>Tag	p.Q358*	DDX19A_ENST00000417604.2_Nonsense_Mutation_p.Q327*|DDX19A_ENST00000443119.2_Nonsense_Mutation_p.Q268*	NM_018332.3	NP_060802.1			DEAD (Asp-Glu-Ala-Asp) box polypeptide 19A											breast(1)|endometrium(1)|large_intestine(5)|lung(3)|urinary_tract(1)	11		Ovarian(137;0.221)				AGAAGGCCACCAGGTGGCTCT	0.483000													13	19					0	0	0.00136819	0	0
FZD2	2535	broad.mit.edu	37	17	42636092	42636092	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr17:42636092G>A	ENST00000315323.3	+	1	1168	c.1036G>A	c.(1036-1038)Gtc>Atc	p.V346I		NM_001466.3	NP_001457.1	Q14332	FZD2_HUMAN	frizzled family receptor 2	346					axonogenesis|brain development|canonical Wnt receptor signaling pathway|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|positive regulation of cGMP metabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(8)	33		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		CATCTGGTGGGTCATCCTGTC	0.622000													12	30					0	0	0.00185496	0	0
CACNA1E	777	broad.mit.edu	37	1	181767811	181767811	+	Silent	SNP	C	C	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr1:181767811C>T	ENST00000526775.1	+	46	6762	c.6597C>T	c.(6595-6597)ggC>ggT	p.G2199G	CACNA1E_ENST00000367567.4_Silent_p.G1825G|CACNA1E_ENST00000367573.2_Silent_p.G2261G|CACNA1E_ENST00000360108.3_Silent_p.G2242G|CACNA1E_ENST00000358338.5_Silent_p.G2150G|CACNA1E_ENST00000367570.1_Silent_p.G2218G|CACNA1E_ENST00000357570.5_Silent_p.G2212G	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	2261					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			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						CTAGCCTGGGCCGTTCCAACA	0.672000													5	14					0	0	0.000602214	0	0
ALDH4A1	8659	broad.mit.edu	37	1	19199413	19199413	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr1:19199413G>A	ENST00000375341.3	-	15	1875	c.1618C>T	c.(1618-1620)Cgc>Tgc	p.R540C	ALDH4A1_ENST00000538839.1_Missense_Mutation_p.R489C|ALDH4A1_ENST00000538309.1_Missense_Mutation_p.R480C|RP13-279N23.2_ENST00000494072.3_Intron|ALDH4A1_ENST00000290597.5_Missense_Mutation_p.R540C	NM_003748.3	NP_003739.2	P30038	AL4A1_HUMAN	aldehyde dehydrogenase 4 family, member A1	540					proline biosynthetic process|proline catabolic process	mitochondrial matrix	1-pyrroline-5-carboxylate dehydrogenase activity|aldehyde dehydrogenase (NAD) activity|electron carrier activity			cervix(2)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)	15		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00479)|BRCA - Breast invasive adenocarcinoma(304;3.67e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	NADH(DB00157)	GACGTCCAGCGCAGGATGTAG	0.587000													21	29					0	0	0.00229938	0	0
PCSK6	5046	broad.mit.edu	37	15	101929704	101929704	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr15:101929704C>T	ENST00000348070.1	-	10	1271	c.1272G>A	c.(1270-1272)atG>atA	p.M424I	PCSK6_ENST00000358417.3_Missense_Mutation_p.M424I|PCSK6_ENST00000344273.2_Missense_Mutation_p.M424I|PCSK6_ENST00000561177.1_5'UTR|PCSK6_ENST00000331826.7_Missense_Mutation_p.M259I|PCSK6_ENST00000398181.2_Missense_Mutation_p.M424I	NM_002570.3|NM_138320.1	NP_002561.1|NP_612193.1	P29122	PCSK6_HUMAN	proprotein convertase subtilisin/kexin type 6	425	Catalytic.				glycoprotein metabolic process|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|regulation of BMP signaling pathway|secretion by cell	cell surface|endomembrane system|endoplasmic reticulum|extracellular matrix|extracellular space|Golgi lumen|membrane|soluble fraction	eukaryotic cell surface binding|heparin binding|nerve growth factor binding|serine-type endopeptidase activity			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			TGCCCGCCACCATGGGGGCAG	0.502000													17	90					0	0	0.000958276	0	0
FAM155A	728215	broad.mit.edu	37	13	107822874	107822874	+	Silent	SNP	G	G	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr13:107822874G>A	ENST00000375915.2	-	3	1486	c.1348C>T	c.(1348-1350)Ctg>Ttg	p.L450L		NM_001080396.2	NP_001073865.1	B1AL88	F155A_HUMAN	family with sequence similarity 155, member A	450						integral to membrane	binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						TTTTCTTCCAGCGTGTTGATG	0.517000													24	30					0	0	0.00127121	0	0
OR6C76	390326	broad.mit.edu	37	12	55820846	55820846	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr12:55820846G>A	ENST00000328314.3	+	1	809	c.809G>A	c.(808-810)gGa>gAa	p.G270E		NM_001005183.1	NP_001005183.1	A6NM76	O6C76_HUMAN	olfactory receptor, family 6, subfamily C, member 76	270					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						TTGACAAAAGGAGTAGCTATA	0.403000													6	13					0	0	0.00116845	0	0
ZNF592	9640	broad.mit.edu	37	15	85327176	85327176	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr15:85327176G>A	ENST00000299927.3	+	1	1292	c.1270G>A	c.(1270-1272)Gat>Aat	p.D424N	ZNF592_ENST00000560079.2_Missense_Mutation_p.D424N			Q92610	ZN592_HUMAN	zinc finger protein 592	424					cell death|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(143;0.0587)			GATGCCAGGGGATGAGGTGCC	0.592000													21	11					0	0	0.00047179	0	0
VIL1	7429	broad.mit.edu	37	2	219289047	219289047	+	Silent	SNP	C	C	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr2:219289047C>T	ENST00000248444.5	+	3	211	c.123C>T	c.(121-123)ttC>ttT	p.F41F	VIL1_ENST00000440053.1_Silent_p.F41F|VIL1_ENST00000392114.2_Intron	NM_007127.2	NP_009058.2	P09327	VILI_HUMAN	villin 1	41	Core.|Necessary for homodimerization.				actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium	actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle	actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Renal(207;0.0474)		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GAAGCTTCTTCGATGGTGACT	0.592000													35	80					0	0	0.000509022	0	0
OR51G1	79324	broad.mit.edu	37	11	4944919	4944919	+	Silent	SNP	A	A	G			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr11:4944919A>G	ENST00000321961.2	-	1	718	c.651T>C	c.(649-651)ttT>ttC	p.F217F	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001005237.1	NP_001005237.1	Q8NGK1	O51G1_HUMAN	olfactory receptor, family 51, subfamily G, member 1	217					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(4)|soft_tissue(1)	25		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		CGTATGAGAGAAAGATGAGCA	0.547000													8	10					0	0	0.000274275	0	0
DMBT1	1755	broad.mit.edu	37	10	124402887	124402887	+	Silent	SNP	C	C	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr10:124402887C>T	ENST00000338354.3	+	53	7321	c.7215C>T	c.(7213-7215)ccC>ccT	p.P2405P	DMBT1_ENST00000368955.3_Silent_p.P2395P|DMBT1_ENST00000330163.4_Silent_p.P1777P|DMBT1_ENST00000359586.6_Silent_p.P1125P|DMBT1_ENST00000368956.2_Silent_p.P1777P|DMBT1_ENST00000344338.3_Silent_p.P2395P|DMBT1_ENST00000368909.3_Silent_p.P2405P			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	2405				P -> A (in Ref. 5; CAC44122).	epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				TGCAGACCCCCCCACGCCGAG	0.647000													10	1					0	0	0.000442599	0	0
ARFGEF2	10564	broad.mit.edu	37	20	47628500	47628500	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr20:47628500C>T	ENST00000371917.4	+	28	3797	c.3797C>T	c.(3796-3798)tCc>tTc	p.S1266F		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	1266					exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	cytosol|Golgi membrane	ARF guanyl-nucleotide exchange factor activity			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			GCCATCGATTCCTTTCAGGAT	0.478000													43	95					0	0	0.000680045	0	0
ZFP69B	65243	broad.mit.edu	37	1	40928242	40928242	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr1:40928242G>A	ENST00000411995.2	+	6	961	c.586G>A	c.(586-588)Gaa>Aaa	p.E196K	ZFP69B_ENST00000361584.3_Missense_Mutation_p.E94K|ZFP69B_ENST00000484445.1_3'UTR	NM_023070.2	NP_075558.2			ZFP69 zinc finger protein B																		TAATAAGCTAGAAAGCCAACA	0.418000													49	49					0	0	0.000781405	0	0
OR5F1	338674	broad.mit.edu	37	11	55761980	55761980	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr11:55761980C>T	ENST00000278409.1	-	1	121	c.122G>A	c.(121-123)gGa>gAa	p.G41E		NM_003697.1	NP_003688.1	O95221	OR5F1_HUMAN	olfactory receptor, family 5, subfamily F, member 1	41					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			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)					CCCGAGATTTCCCAGTACTGT	0.428000													9	12					0	0	0.000274275	0	0
SPRR3	6707	broad.mit.edu	37	1	152975748	152975748	+	Silent	SNP	G	G	A	rs61733607	byFrequency	TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr1:152975748G>A	ENST00000331860.3	+	3	402	c.252G>A	c.(250-252)aaG>aaA	p.K84K	SPRR3_ENST00000542696.1_Silent_p.K84K|SPRR3_ENST00000295367.4_Silent_p.K84K	NM_005416.2	NP_005407.1	Q9UBC9	SPRR3_HUMAN	small proline-rich protein 3	84	14 X 8 AA approximate tandem repeats.				keratinization|peptide cross-linking|wound healing	cytoplasm	protein binding|structural molecule activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	11	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GTTGTACCAAGGTCCCTGAGC	0.597000													7	15					0	0	0.000274275	0	0
ZNF35	7584	broad.mit.edu	37	3	44700466	44700466	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr3:44700466G>A	ENST00000396056.2	+	4	846	c.611G>A	c.(610-612)aGc>aAc	p.S204N	ZNF35_ENST00000296092.3_3'UTR|RP11-944L7.4_ENST00000457331.1_RNA|ZNF35_ENST00000542250.1_Missense_Mutation_p.S44N	NM_003420.3	NP_003411.3	P13682	ZNF35_HUMAN	zinc finger protein 35	204	Globular domain.				cellular response to retinoic acid|spermatogenesis	nucleus|perinuclear region of cytoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(3)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	12		Ovarian(412;0.0228)		OV - Ovarian serous cystadenocarcinoma(275;2.49e-27)|KIRC - Kidney renal clear cell carcinoma(197;0.0475)|Kidney(197;0.0595)		GGAAAATATAGCCTTAATTCT	0.393000													74	50					0	0	0.000781405	0	0
ORC3	23595	broad.mit.edu	37	6	88318858	88318858	+	Silent	SNP	C	C	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr6:88318858C>T	ENST00000392844.3	+	7	672	c.624C>T	c.(622-624)agC>agT	p.S208S	ORC3_ENST00000257789.4_Silent_p.S208S|ORC3_ENST00000546266.1_Silent_p.S65S|ORC3_ENST00000478028.1_3'UTR|ORC3_ENST00000417380.2_Silent_p.S155S	NM_012381.3|NM_181837.2	NP_036513.2|NP_862820.1	Q9UBD5	ORC3_HUMAN	origin recognition complex, subunit 3	208					cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	nuclear origin of replication recognition complex|nucleoplasm	DNA replication origin binding|protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	28						CTACTTCTAGCCAATGGCAGT	0.393000													37	43					0	0	0.000953801	0	0
CCDC63	160762	broad.mit.edu	37	12	111336817	111336817	+	Silent	SNP	G	G	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr12:111336817G>A	ENST00000308208.5	+	10	1472	c.1230G>A	c.(1228-1230)ttG>ttA	p.L410L	CCDC63_ENST00000545036.1_Silent_p.L370L|CCDC63_ENST00000552694.1_Silent_p.L331L	NM_152591.1	NP_689804.1	Q8NA47	CCD63_HUMAN	coiled-coil domain containing 63	410										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						TGGATCTATTGAAGAACTCAG	0.498000													11	18					0	0	0.000673444	0	0
SNRNP27	11017	broad.mit.edu	37	2	70130361	70130361	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr2:70130361C>T	ENST00000244227.3	+	5	822	c.397C>T	c.(397-399)Cag>Tag	p.Q133*	SNRNP27_ENST00000409116.1_Intron|SNRNP27_ENST00000488986.1_3'UTR	NM_006857.2	NP_006848.1	Q8WVK2	SNR27_HUMAN	small nuclear ribonucleoprotein 27kDa (U4/U6.U5)	133					mRNA processing|RNA splicing	nucleus	nucleic acid binding	p.Q133*(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	11						AAATGTCTCTCAGAAGAGGAA	0.328000													33	87					0	0	0.00170553	0	0
ENO3	2027	broad.mit.edu	37	17	4859297	4859297	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr17:4859297C>T	ENST00000323997.6	+	9	1058	c.926C>T	c.(925-927)tCg>tTg	p.S309L	ENO3_ENST00000518175.1_Missense_Mutation_p.S309L|ENO3_ENST00000519584.1_Missense_Mutation_p.S266L	NM_001976.4|NM_053013.3	NP_001967.3|NP_443739.3	P13929	ENOB_HUMAN	enolase 3 (beta, muscle)	309					gluconeogenesis|glycolysis	phosphopyruvate hydratase complex	magnesium ion binding|phosphopyruvate hydratase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)	15						TCCTTCCTCTCGGGGGTGAAC	0.577000													28	44					0	0	0.00178596	0	0
GTPBP2	54676	broad.mit.edu	37	6	43590399	43590399	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr6:43590399C>T	ENST00000307126.5	-	10	1437	c.1438G>A	c.(1438-1440)Ggg>Agg	p.G480R	GTPBP2_ENST00000476510.1_5'UTR|GTPBP2_ENST00000307114.7_Missense_Mutation_p.G392R	NM_019096.3	NP_061969.3	Q9BX10	GTPB2_HUMAN	GTP binding protein 2	480							GTP binding|GTPase activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(18;9.36e-06)|Lung NSC(15;0.00161)|all_lung(25;0.004)		all cancers(41;0.000501)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0826)|OV - Ovarian serous cystadenocarcinoma(102;0.167)			TCAAAGTCCCCAAGCGCCAGT	0.592000													57	70					0	0	0.000781405	0	0
MYH7B	57644	broad.mit.edu	37	20	33578836	33578836	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr20:33578836C>T	ENST00000262873.7	+	22	2313	c.2221C>T	c.(2221-2223)Cag>Tag	p.Q741*		NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	699	Myosin head-like.					membrane|myosin filament	actin binding|ATP binding|motor activity			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			GGTGCTACACCAGCTGCGCTG	0.622000													16	37					0	0	0.000958276	0	0
GZMK	3003	broad.mit.edu	37	5	54320538	54320538	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr5:54320538C>T	ENST00000231009.2	+	2	185	c.115C>T	c.(115-117)Cca>Tca	p.P39S	CTD-2313F11.1_ENST00000596137.1_RNA|CTD-2313F11.1_ENST00000595218.1_RNA|CTD-2313F11.1_ENST00000596909.1_RNA	NM_002104.2	NP_002095.1	P49863	GRAK_HUMAN	granzyme K (granzyme 3; tryptase II)	39	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)	15		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183)				TCATTCCAGGCCATTTATGGC	0.448000													12	6					0	0	0.00185496	0	0
ONECUT1	3175	broad.mit.edu	37	15	53081678	53081678	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr15:53081678G>A	ENST00000305901.5	-	1	531	c.404C>T	c.(403-405)cCg>cTg	p.P135L	ONECUT1_ENST00000561401.2_Intron	NM_004498.2	NP_004489.1	Q9UBC0	HNF6_HUMAN	one cut homeobox 1	135	Poly-His.				endocrine pancreas development	nucleus	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	17				all cancers(107;0.0708)		gtggtggtgcgggtggtggtg	0.632000													9	13					0	0	0.000673444	0	0
CYP2C19	1557	broad.mit.edu	37	10	96534969	96534969	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr10:96534969G>A	ENST00000371321.3	+	2	405	c.323G>A	c.(322-324)aGa>aAa	p.R108K	CYP2C19_ENST00000464755.1_3'UTR	NM_000769.1	NP_000760.1	P33261	CP2CJ_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 19	108					exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)	AGAGCTAACAGAGGATTTGGT	0.517000													20	8					0	0	0.00047179	0	0
DBN1	1627	broad.mit.edu	37	5	176895126	176895126	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr5:176895126A>G	ENST00000292385.5	-	4	853	c.244T>C	c.(244-246)Tac>Cac	p.Y82H	DBN1_ENST00000309007.5_Missense_Mutation_p.Y80H|DBN1_ENST00000393565.1_Missense_Mutation_p.Y80H	NM_080881.2	NP_543157.1	Q16643	DREB_HUMAN	drebrin 1	80	ADF-H.				actin filament organization|regulation of dendrite development|regulation of neuronal synaptic plasticity	actomyosin|cytoplasm|dendrite	actin binding|profilin binding			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(12)|ovary(1)|skin(2)	25	all_cancers(89;2.17e-05)|Renal(175;0.000269)|Lung NSC(126;0.0014)|all_lung(126;0.0025)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ATGAGCACGTATTTTGGCAGA	0.612000													76	105					0	0	0.000781405	0	0
COL19A1	1310	broad.mit.edu	37	6	70859924	70859924	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr6:70859924C>T	ENST00000322773.4	+	30	2126	c.2024C>T	c.(2023-2025)cCc>cTc	p.P675L	COL19A1_ENST00000393344.1_Missense_Mutation_p.P297L	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	675	Triple-helical region 3 (COL3).				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						CTGCCAGGCCCCCCAGGTGAC	0.488000													15	17					0	0	0.000422831	0	0
UNC13A	23025	broad.mit.edu	37	19	17752257	17752257	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr19:17752257T>A	ENST00000428389.2	-	22	2844	c.2845A>T	c.(2845-2847)Att>Ttt	p.I949F	UNC13A_ENST00000551649.1_Missense_Mutation_p.I861F|UNC13A_ENST00000550896.1_Missense_Mutation_p.I859F|UNC13A_ENST00000252773.7_Missense_Mutation_p.I861F|UNC13A_ENST00000519716.2_Missense_Mutation_p.I861F|UNC13A_ENST00000552293.1_Missense_Mutation_p.I861F			Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	861					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						TCGTCCACAATCTCCTGGGCT	0.567000													19	15					0	0	0.00121646	0	0
ABCA13	154664	broad.mit.edu	37	7	48269475	48269475	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr7:48269475C>T	ENST00000435803.1	+	7	710	c.686C>T	c.(685-687)tCc>tTc	p.S229F		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	229					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						CAAACTTTTTCCCAGGTTTCT	0.408000													127	107					0	0	0.000781405	0	0
GSTT1	2952	broad.mit.edu	37	22	24376964	24376964	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr22:24376964G>A	ENST00000248935.5	-	4	438	c.386C>T	c.(385-387)tCt>tTt	p.S129F	GSTT1_ENST00000439996.2_Missense_Mutation_p.S11F	NM_000853.2	NP_000844.2	P30711	GSTT1_HUMAN	glutathione S-transferase theta 1	129	GST C-terminal.				glutathione metabolic process	cytosol|soluble fraction	glutathione peroxidase activity|glutathione transferase activity			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|ovary(1)|prostate(1)|skin(1)	6					Glutathione(DB00143)	TGTCTGGGGAGATACTGGCTC	0.542000									Myelodysplasia and Acute Myeloid Leukemia (AML), Familial				22	61					0	0	0.00047179	0	0
UGT1A7	54577	broad.mit.edu	37	2	234591029	234591029	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr2:234591029C>T	ENST00000373426.3	+	1	446	c.446C>T	c.(445-447)cCt>cTt	p.P149L	UGT1A10_ENST00000373445.1_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A10_ENST00000344644.5_Intron	NM_019077.2	NP_061950.2														NS(1)|endometrium(6)|kidney(5)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|prostate(1)|skin(1)	33		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;8.93e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000412)|Lung(119;0.00333)|LUSC - Lung squamous cell carcinoma(224;0.00746)		TTTCTCGATCCTTTTGATGCC	0.383000													68	44					0	0	0.000781405	0	0
RABGAP1	23637	broad.mit.edu	37	9	125852639	125852639	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr9:125852639T>A	ENST00000373647.4	+	21	2737	c.2603T>A	c.(2602-2604)aTt>aAt	p.I868N	RABGAP1_ENST00000373643.5_Missense_Mutation_p.I207N	NM_012197.3	NP_036329.3	Q9Y3P9	RBGP1_HUMAN	RAB GTPase activating protein 1	868					cell cycle	centrosome|cytosol|microtubule associated complex	Rab GTPase activator activity|tubulin binding			breast(3)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|prostate(4)|stomach(3)|upper_aerodigestive_tract(1)	41						ACCAGCAAGATTGCACTACGG	0.478000													21	4					0	0	0.00047179	0	0
LGR4	55366	broad.mit.edu	37	11	27397858	27397858	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr11:27397858G>A	ENST00000379214.4	-	13	1612	c.1169C>T	c.(1168-1170)tCt>tTt	p.S390F	LGR4_ENST00000389858.4_Missense_Mutation_p.S366F	NM_018490.2	NP_060960.2	Q9BXB1	LGR4_HUMAN	leucine-rich repeat containing G protein-coupled receptor 4	390						integral to membrane|plasma membrane	protein-hormone receptor activity			NS(3)|breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(10)|ovary(1)	32						AATCCTTAGAGATATCAGGCC	0.294000													39	55					0	0	0.000781405	0	0
DOPEY2	9980	broad.mit.edu	37	21	37619841	37619841	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr21:37619841C>T	ENST00000399151.3	+	20	4809	c.4724C>T	c.(4723-4725)tCt>tTt	p.S1575F		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	1575					endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						GAAAACATTTCTCCAGATTAT	0.353000													79	58					0	0	0.000781405	0	0
BEND6	221336	broad.mit.edu	37	6	56846633	56846633	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr6:56846633G>A	ENST00000370748.3	+	2	460	c.25G>A	c.(25-27)Gaa>Aaa	p.E9K	BEND6_ENST00000370745.1_Missense_Mutation_p.E9K|BEND6_ENST00000370746.3_Missense_Mutation_p.E9K|BEND6_ENST00000370750.2_Missense_Mutation_p.E9K			Q5SZJ8	BEND6_HUMAN	BEN domain containing 6	9										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	17						GCAGACAGATGAAATTACCAA	0.378000													41	60					0	0	0.00222228	0	0
RNF213	57674	broad.mit.edu	37	17	78280188	78280188	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr17:78280188C>T	ENST00000582970.1	+	12	2490	c.2347C>T	c.(2347-2349)Cgt>Tgt	p.R783C	RNF213_ENST00000508628.2_Missense_Mutation_p.R832C|RNF213_ENST00000456466.1_Missense_Mutation_p.R783C|RNF213_ENST00000319921.4_Missense_Mutation_p.R783C	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	783										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			GCACCTGGGTCGTTTTCCTGC	0.488000													21	28					0	0	0.00188189	0	0
DAZAP1	26528	broad.mit.edu	37	19	1434783	1434783	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr19:1434783C>T	ENST00000233078.4	+	12	1257	c.1096C>T	c.(1096-1098)Ccc>Tcc	p.P366S	DAZAP1_ENST00000336761.6_3'UTR	NM_018959.2	NP_061832.2	Q96EP5	DAZP1_HUMAN	DAZ associated protein 1	366	Pro-rich.				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	nucleotide binding|RNA binding			breast(2)|endometrium(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	9		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTTCTCAGACCCCAGCCAGCA	0.697000													8	20					0	0	0.000442599	0	0
EFCAB6	64800	broad.mit.edu	37	22	43950764	43950764	+	Silent	SNP	G	G	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr22:43950764G>A	ENST00000262726.7	-	27	3886	c.3633C>T	c.(3631-3633)atC>atT	p.I1211I	EFCAB6_ENST00000461800.1_5'UTR|EFCAB6_ENST00000396231.2_Silent_p.I1059I	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	1211	EF-hand 13.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				CGTCCGTCAGGATTTGGACGC	0.517000													23	72					0	0	0.000375601	0	0
GABPB2	126626	broad.mit.edu	37	1	151076051	151076051	+	Silent	SNP	C	C	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr1:151076051C>T	ENST00000368918.3	+	6	967	c.636C>T	c.(634-636)gcC>gcT	p.A212A	GABPB2_ENST00000368916.1_Intron|GABPB2_ENST00000368917.1_Intron|GABPB2_ENST00000467551.1_Intron	NM_144618.2	NP_653219.1	Q8TAK5	GABP2_HUMAN	GA binding protein transcription factor, beta subunit 2	212					positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	protein heterodimerization activity|transcription regulatory region DNA binding			breast(1)|endometrium(2)|large_intestine(3)|liver(2)|lung(7)	15				all cancers(107;7.17e-05)|GBM - Glioblastoma multiforme(94;0.000662)		ACCCCCATGCCTCAACAGTAC	0.443000													51	33					0	0	0.000781405	0	0
SPATS1	221409	broad.mit.edu	37	6	44310885	44310885	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr6:44310885C>T	ENST00000288390.2	+	1	400	c.53C>T	c.(52-54)tCc>tTc	p.S18F	SPATS1_ENST00000323108.8_Missense_Mutation_p.S18F			Q496A3	SPAS1_HUMAN	spermatogenesis associated, serine-rich 1	18										NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(2)|lung(5)|skin(1)|urinary_tract(1)	14	all_lung(25;0.00469)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CGTCTCCCCTCCATCTCAAGC	0.512000													33	34					0	0	0.0024448	0	0
CTPS1	1503	broad.mit.edu	37	1	41454276	41454276	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr1:41454276C>T	ENST00000372621.4	+	5	957	c.449C>T	c.(448-450)aCc>aTc	p.T150I	CTPS1_ENST00000543104.1_Missense_Mutation_p.T157I|CTPS1_ENST00000541520.1_Intron|CTPS1_ENST00000372616.1_Missense_Mutation_p.T150I	NM_001905.2	NP_001896.2	P17812	PYRG1_HUMAN	CTP synthase 1	150					CTP biosynthetic process|glutamine metabolic process|nucleobase, nucleoside and nucleotide interconversion|response to drug	cytosol	ATP binding|CTP synthase activity|protein binding			endometrium(3)|lung(10)	13					L-Glutamine(DB00130)	CTTGGTGGAACCGTGGGGGAC	0.433000													40	53					0	0	0.00170553	0	0
WNT8B	7479	broad.mit.edu	37	10	102222964	102222964	+	Silent	SNP	C	C	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr10:102222964C>T	ENST00000343737.5	+	1	167	c.39C>T	c.(37-39)ttC>ttT	p.F13F		NM_003393.3	NP_003384.2	Q93098	WNT8B_HUMAN	wingless-type MMTV integration site family, member 8B	13					anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|determination of dorsal identity|endoderm development|eye development|gastrulation|hypothalamus development|negative regulation of anterior neural cell fate commitment of the neural plate by Wnt receptor signaling pathway|otic placode formation|positive regulation of gene expression|response to estradiol stimulus|Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity			breast(1)|large_intestine(1)|ovary(1)|skin(1)	4		Colorectal(252;0.117)		Epithelial(162;1.87e-10)|all cancers(201;1.64e-08)		TCTGTCTTTTCACCTGTGTCC	0.438000													19	9					0	0	0.00047179	0	0
SLC17A8	246213	broad.mit.edu	37	12	100813746	100813746	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr12:100813746G>A	ENST00000323346.5	+	12	1892	c.1579G>A	c.(1579-1581)Gaa>Aaa	p.E527K	SLC17A8_ENST00000552697.1_3'UTR|SLC17A8_ENST00000392989.3_Missense_Mutation_p.E477K	NM_001145288.1|NM_139319.2	NP_001138760.1|NP_647480.1	Q8NDX2	VGLU3_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 8	527					neurotransmitter transport|sensory perception of sound|sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	44						TGACCAGGACGAATTAGCTGA	0.468000													7	9					0	0	0.00198382	0	0
NLRP11	204801	broad.mit.edu	37	19	56312966	56312966	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr19:56312966C>T	ENST00000443188.1	-	7	2853	c.2143G>A	c.(2143-2145)Gag>Aag	p.E715K	NLRP11_ENST00000589093.1_Missense_Mutation_p.E715K|NLRP11_ENST00000589824.2_Missense_Mutation_p.E661K|NLRP11_ENST00000360133.3_Missense_Mutation_p.E661K|NLRP11_ENST00000592953.1_Missense_Mutation_p.E616K	NM_145007.3	NP_659444.2	P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	715							ATP binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		CATGTGGGCTCGTGCAGGATG	0.498000													26	37					0	0	0.000491102	0	0
EIF4G1	1981	broad.mit.edu	37	3	184035254	184035254	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr3:184035254C>T	ENST00000342981.4	+	4	707	c.293C>T	c.(292-294)gCc>gTc	p.A98V	EIF4G1_ENST00000411531.1_Missense_Mutation_p.A58V|EIF4G1_ENST00000392537.2_Missense_Mutation_p.A11V|EIF4G1_ENST00000427845.1_Missense_Mutation_p.A11V|EIF4G1_ENST00000350481.5_Intron|EIF4G1_ENST00000352767.3_Missense_Mutation_p.A105V|EIF4G1_ENST00000319274.6_Missense_Mutation_p.A98V|EIF4G1_ENST00000424196.1_Missense_Mutation_p.A105V|EIF4G1_ENST00000382330.3_Missense_Mutation_p.A105V|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000414031.1_Missense_Mutation_p.A58V|EIF4G1_ENST00000346169.2_Missense_Mutation_p.A98V	NM_182917.4	NP_886553.3	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	98					insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TCCTACCCAGCCTCCCAGGGG	0.612000													29	29					0	0	0.00209593	0	0
ADD2	119	broad.mit.edu	37	2	70933406	70933406	+	Silent	SNP	G	G	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr2:70933406G>A	ENST00000264436.3	-	3	579	c.135C>T	c.(133-135)ttC>ttT	p.F45F	ADD2_ENST00000355733.3_Silent_p.F45F|ADD2_ENST00000430656.1_Silent_p.F61F|ADD2_ENST00000413157.2_Silent_p.F45F|ADD2_ENST00000407644.2_Silent_p.F45F	NM_001617.3	NP_001608.1	P35612	ADDB_HUMAN	adducin 2 (beta)	45					actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding	cytoplasm|F-actin capping protein complex|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding			autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						CCATCAGGTTGAAGTCCTGCC	0.677000													37	16					0	0	0.00148497	0	0
NBPF1	55672	broad.mit.edu	37	1	16893770	16893770	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr1:16893770A>C	ENST00000430580.2	-	25	3630	c.2743T>G	c.(2743-2745)Tca>Gca	p.S915A	NBPF1_ENST00000432949.1_3'UTR|NBPF1_ENST00000420031.2_3'UTR	NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	915	NBPF 5.					cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		AGATAACCTGAAGGAGTTGAA	0.488000													10	464					0	0	0.000978159	0	0
CYP4A22	284541	broad.mit.edu	37	1	47610323	47610323	+	Silent	SNP	C	C	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr1:47610323C>T	ENST00000371891.3	+	8	1030	c.999C>T	c.(997-999)atC>atT	p.I333I	CYP4A22-AS1_ENST00000444042.2_lincRNA|CYP4A22_ENST00000485117.1_Intron|CYP4A22_ENST00000371890.3_Intron|CYP4A22_ENST00000294337.3_Silent_p.I333I	NM_001010969.2	NP_001010969.2	Q5TCH4	CP4AM_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 22	333						endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TCTCCTGGATCCTCTATGCTC	0.592000													6	19					0	0	0.00136819	0	0
THOC5	8563	broad.mit.edu	37	22	29921856	29921856	+	Silent	SNP	G	G	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr22:29921856G>A	ENST00000490103.1	-	12	1268	c.1146C>T	c.(1144-1146)gcC>gcT	p.A382A	CTA-256D12.11_ENST00000411969.1_RNA|THOC5_ENST00000397871.1_Silent_p.A382A|THOC5_ENST00000397872.1_Silent_p.A382A|THOC5_ENST00000397873.2_Silent_p.A382A	NM_003678.4	NP_003669.4	Q13769	THOC5_HUMAN	THO complex 5	382					intronless viral mRNA export from host nucleus|monocyte differentiation|mRNA processing|primitive hemopoiesis|RNA splicing	cytoplasm|intermediate filament cytoskeleton|THO complex part of transcription export complex	protein binding|RNA binding			NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TCAGCTCCATGGCAGTTGTCA	0.532000													39	28					0	0	0.000781405	0	0
LOC645752	645752	broad.mit.edu	37	15	78212418	78212418	+	RNA	SNP	C	C	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr15:78212418C>A	ENST00000565869.1	+	0	111				RP11-114H24.2_ENST00000567226.1_RNA																							CATATTCGTCCTGCTCTAGCT	0.537000													6	122					0.000673444	0.002942	0.000673444	1	0
KIAA1109	84162	broad.mit.edu	37	4	123230600	123230600	+	Silent	SNP	G	G	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr4:123230600G>A	ENST00000264501.4	+	59	10606	c.10233G>A	c.(10231-10233)ggG>ggA	p.G3411G	KIAA1109_ENST00000388738.3_Silent_p.G3411G|KIAA1109_ENST00000455637.1_Silent_p.G3411G			Q2LD37	K1109_HUMAN	KIAA1109	3411					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						AAATTCATGGGGATTTAGTGA	0.338000													11	22					0	0	0.000308642	0	0
GALK1	2584	broad.mit.edu	37	17	73758912	73758912	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr17:73758912G>C	ENST00000588479.1	-	5	1240	c.666C>G	c.(664-666)atC>atG	p.I222M	GALK1_ENST00000225614.2_Missense_Mutation_p.I222M|GALK1_ENST00000437911.1_Missense_Mutation_p.I252M			P51570	GALK1_HUMAN	galactokinase 1	222					galactose catabolic process	cytosol	ATP binding|galactokinase activity|galactose binding			endometrium(2)|large_intestine(1)|lung(1)|prostate(1)	5	all_cancers(13;1.5e-07)		all cancers(21;1.03e-06)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			TAGAGTTGGTGATGAGCACGG	0.642000													11	35					0	0	0.000978159	0	0
ZSCAN29	146050	broad.mit.edu	37	15	43654013	43654013	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr15:43654013C>T	ENST00000396976.2	-	5	1951	c.1817G>A	c.(1816-1818)gGc>gAc	p.G606D	ZSCAN29_ENST00000568898.1_Missense_Mutation_p.G216D|ZSCAN29_ENST00000396972.1_Missense_Mutation_p.G217D|ZSCAN29_ENST00000562072.1_Missense_Mutation_p.A535T	NM_152455.3	NP_689668.3	Q8IWY8	ZSC29_HUMAN	zinc finger and SCAN domain containing 29	606					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(7)|skin(2)	24		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.97e-07)		ACTCTCATTGCCTTTACCCTG	0.438000													34	62					0	0	0.000814825	0	0
LAMA3	3909	broad.mit.edu	37	18	21523870	21523870	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr18:21523870G>A	ENST00000313654.9	+	69	9386	c.9145G>A	c.(9145-9147)Ggg>Agg	p.G3049R	LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000269217.6_Missense_Mutation_p.G1440R|LAMA3_ENST00000399516.3_Missense_Mutation_p.G2993R|LAMA3_ENST00000587184.1_Missense_Mutation_p.G1384R	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	3049	Laminin G-like 4.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CTTTGCACTGGGGACAGATGG	0.473000													11	37					0	0	0.000978159	0	0
ATMIN	23300	broad.mit.edu	37	16	81077593	81077593	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr16:81077593G>A	ENST00000566488.1	+	3	1985	c.1022G>A	c.(1021-1023)gGg>gAg	p.G341E	ATMIN_ENST00000564241.1_Missense_Mutation_p.G341E|ATMIN_ENST00000539819.1_3'UTR|ATMIN_ENST00000299575.4_Missense_Mutation_p.G497E			O43313	ATMIN_HUMAN	ATM interactor	497	Required for formation of RAD51 foci.				response to DNA damage stimulus	nucleus	zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	20						CAAACCAGTGGGATAGAAAGT	0.453000													17	29					0	0	0.000958276	0	0
CANT1	124583	broad.mit.edu	37	17	76989811	76989811	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr17:76989811C>G	ENST00000302345.2	-	4	1521	c.1027G>C	c.(1027-1029)Ggc>Cgc	p.G343R	CANT1_ENST00000392446.5_Missense_Mutation_p.G343R|CANT1_ENST00000591773.1_Missense_Mutation_p.G343R	NM_001159773.1|NM_138793.3	NP_001153245.1|NP_620148.1	Q8WVQ1	CANT1_HUMAN	calcium activated nucleotidase 1	343					positive regulation of I-kappaB kinase/NF-kappaB cascade	endoplasmic reticulum membrane|Golgi cisterna membrane|integral to membrane	calcium ion binding|nucleoside-diphosphatase activity|signal transducer activity		CANT1/ETV4(3)	cervix(1)|endometrium(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)	16			BRCA - Breast invasive adenocarcinoma(99;0.0362)|OV - Ovarian serous cystadenocarcinoma(97;0.139)			GACGAGAAGCCGTGAGTGGGG	0.632000			T	ETV4	prostate								16	21					0	0	0.000566183	0	0
LCMT1	51451	broad.mit.edu	37	16	25175983	25175983	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr16:25175983C>A	ENST00000399069.3	+	7	789	c.634C>A	c.(634-636)Ctc>Atc	p.L212I	LCMT1_ENST00000380966.4_Missense_Mutation_p.L157I|LCMT1_ENST00000572869.1_3'UTR	NM_016309.2	NP_057393.2	Q9UIC8	LCMT1_HUMAN	leucine carboxyl methyltransferase 1	212							protein binding|protein C-terminal carboxyl O-methyltransferase activity|S-adenosylmethionine-dependent methyltransferase activity								GBM - Glioblastoma multiforme(48;0.0336)	L-Leucine(DB00149)	GTCCGCAAACCTCCTGAAGTG	0.443000													20	49					1.00905e-13	4.49732e-13	0.00121646	1	0
ANK2	287	broad.mit.edu	37	4	114279687	114279687	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr4:114279687C>T	ENST00000357077.4	+	38	9966	c.9913C>T	c.(9913-9915)Cct>Tct	p.P3305S	ANK2_ENST00000394537.3_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.P3272S|ANK2_ENST00000506722.1_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	3272					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		ATCCAAAATTCCTGTAAGGAC	0.428000													17	16					0	0	0.000422831	0	0
UBR5	51366	broad.mit.edu	37	8	103279190	103279190	+	Silent	SNP	G	G	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr8:103279190G>A	ENST00000520539.1	-	52	8013	c.7407C>T	c.(7405-7407)tcC>tcT	p.S2469S	UBR5_ENST00000518205.1_Silent_p.S198S|UBR5_ENST00000220959.4_Silent_p.S2469S|UBR5_ENST00000521922.1_Silent_p.S2463S	NM_015902.5	NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	2469	HECT.				cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			CCTTTTCTGAGGAGTCTACTA	0.358000													62	157					0	0	0.000781405	0	0
TNFRSF8	943	broad.mit.edu	37	1	12202437	12202437	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr1:12202437C>T	ENST00000263932.2	+	15	1859	c.1637C>T	c.(1636-1638)cCc>cTc	p.P546L	TNFRSF8_ENST00000417814.2_Missense_Mutation_p.P434L|TNFRSF8_ENST00000479933.2_3'UTR|TNFRSF8_ENST00000413146.2_Missense_Mutation_p.P83L	NM_001243.3	NP_001234.2	P28908	TNR8_HUMAN	tumor necrosis factor receptor superfamily, member 8	546					cellular response to mechanical stimulus|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of TRAIL biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;8.71e-05)|all_lung(284;9.89e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)		CCAGCAGAGCCCGAGTTGGAG	0.642000													4	6					0	0	0.000602214	0	0
DOCK1	1793	broad.mit.edu	37	10	128841377	128841377	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr10:128841377C>T	ENST00000280333.6	+	21	2196	c.2087C>T	c.(2086-2088)cCt>cTt	p.P696L		NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	696					apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		CATTTTAATCCTGTTTTGGAA	0.289000													12	4					0	0	0.000308642	0	0
PSMC6	5706	broad.mit.edu	37	14	53173913	53173913	+	Silent	SNP	C	C	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr14:53173913C>T	ENST00000445930.2	+	1	24	c.18C>T	c.(16-18)atC>atT	p.I6I				P62333	PRS10_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 6	0					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 complex	ATP binding|ATPase activity|protein binding, bridging			breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)	19	Breast(41;0.176)					TTCCCGGCATCCCCTATGAGA	0.647000													9	12					0	0	0.000442599	0	0
GRM6	2916	broad.mit.edu	37	5	178418561	178418561	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr5:178418561C>T	ENST00000231188.5	-	3	900		c.e3-1		GRM6_ENST00000517717.1_Splice_Site	NM_000843.3	NP_000834.2	O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6						detection of visible light|visual perception	integral to plasma membrane				NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		CAGACCCCCCCTGGGCGTTGG	0.617000													26	33					0	0	0.000878237	0	0
LY6G6C	80740	broad.mit.edu	37	6	31687075	31687075	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr6:31687075A>T	ENST00000375819.2	-	3	341	c.176T>A	c.(175-177)gTt>gAt	p.V59D	LY6G6C_ENST00000495859.1_Missense_Mutation_p.V3D	NM_025261.2	NP_079537.1	O95867	LY66C_HUMAN	lymphocyte antigen 6 complex, locus G6C	59	UPAR/Ly6.					anchored to membrane|plasma membrane				NS(1)|large_intestine(1)|lung(1)|skin(1)	4						ATTGGAGAAAACCCACATCTT	0.592000													78	79					0	0	0.000781405	0	0
IRAK3	11213	broad.mit.edu	37	12	66641485	66641485	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr12:66641485C>T	ENST00000261233.4	+	12	1746	c.1325C>T	c.(1324-1326)aCt>aTt	p.T442I	IRAK3_ENST00000457197.2_Missense_Mutation_p.T381I	NM_007199.2	NP_009130.2	Q9Y616	IRAK3_HUMAN	interleukin-1 receptor-associated kinase 3	442	Protein kinase.				interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|negative regulation of innate immune response|negative regulation of interleukin-12 production|negative regulation of interleukin-6 production|negative regulation of macrophage cytokine production|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein catabolic process|negative regulation of protein complex disassembly|negative regulation of toll-like receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of macrophage tolerance induction|positive regulation of NF-kappaB transcription factor activity|response to exogenous dsRNA|response to lipopolysaccharide|response to peptidoglycan	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein heterodimerization activity|protein homodimerization activity|protein serine/threonine kinase activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(28;0.0203)		GTTTTAAATACTCTTGAAAGT	0.338000													12	30					0	0	0.00185496	0	0
F8	2157	broad.mit.edu	37	X	154158047	154158047	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chrX:154158047G>A	ENST00000360256.4	-	14	4218	c.4018C>T	c.(4018-4020)Cca>Tca	p.P1340S		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	1340	B.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	TCTTCTAGTGGGAGTCTGAAT	0.418000													21	1					0	0	0.00229938	0	0
PLEC	5339	broad.mit.edu	37	8	144998604	144998604	+	Silent	SNP	C	C	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr8:144998604C>T	ENST00000322810.4	-	31	6073	c.5904G>A	c.(5902-5904)gcG>gcA	p.A1968A	PLEC_ENST00000354589.3_Silent_p.A1831A|PLEC_ENST00000354958.2_Silent_p.A1809A|PLEC_ENST00000527096.1_Silent_p.A1854A|PLEC_ENST00000436759.2_Silent_p.A1858A|PLEC_ENST00000356346.3_Silent_p.A1817A|PLEC_ENST00000357649.2_Silent_p.A1835A|PLEC_ENST00000345136.3_Silent_p.A1831A|PLEC_ENST00000398774.2_Silent_p.A1799A	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	1968	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GCACCCGCTCCGCCTCGGCCC	0.741000													6	4					0	0	0.000157383	0	0
ZMAT3	64393	broad.mit.edu	37	3	178742978	178742978	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr3:178742978G>A	ENST00000311417.2	-	6	1438	c.697C>T	c.(697-699)Cca>Tca	p.P233S	ZMAT3_ENST00000432729.1_Missense_Mutation_p.P232S	NM_022470.3	NP_071915.1	Q9HA38	ZMAT3_HUMAN	zinc finger, matrin-type 3	233					apoptosis|protein transport|regulation of growth|response to DNA damage stimulus|transmembrane transport	nucleolus	RNA binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(6)|lung(2)|ovary(2)|prostate(1)|skin(1)	14	all_cancers(143;3.31e-18)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;6.74e-27)|GBM - Glioblastoma multiforme(14;0.00448)|BRCA - Breast invasive adenocarcinoma(182;0.0527)			AGATCACGTGGAATTCTCTGC	0.423000													29	9					0	0	0.00106085	0	0
SWI5	375757	broad.mit.edu	37	9	131048271	131048271	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr9:131048271A>G	ENST00000320188.4	+	4	602	c.602A>G	c.(601-603)aAt>aGt	p.N201S		NM_001040011.1	NP_001035100.1	Q1ZZU3	SWI5_HUMAN	SWI5 recombination repair homolog (yeast)	201					double-strand break repair via homologous recombination	Swi5-Sfr1 complex	protein binding										CACGAGTACAATGACATCAAG	0.527000													56	10					0	0	0.000781405	0	0
PRR16	51334	broad.mit.edu	37	5	120022371	120022371	+	Silent	SNP	G	G	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr5:120022371G>A	ENST00000379551.2	+	3	1170	c.813G>A	c.(811-813)acG>acA	p.T271T	PRR16_ENST00000446965.1_Silent_p.T224T|PRR16_ENST00000407149.2_Silent_p.T294T|PRR16_ENST00000505123.1_Silent_p.T224T	NM_016644.1	NP_057728.1	Q569H4	PRR16_HUMAN	proline rich 16	294	Pro-rich.									endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0464)|Prostate(80;0.00446)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.000126)|Epithelial(69;0.000331)|all cancers(49;0.00169)		CACAGAAGACGATCTTGAGGA	0.398000													10	11					0	0	0.00185496	0	0
AEBP1	165	broad.mit.edu	37	7	44152505	44152505	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr7:44152505G>A	ENST00000223357.3	+	18	2871	c.2566G>A	c.(2566-2568)Ggg>Agg	p.G856R	AEBP1_ENST00000450684.2_Missense_Mutation_p.G431R	NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN	AE binding protein 1	856	Interaction with PTEN (By similarity).				cell adhesion|muscle organ development|proteolysis|skeletal system development	cytoplasm|extracellular space|nucleus	DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						CCCCCGGACCGGGAGTGAGTC	0.662000													57	70					0	0	0.000781405	0	0
SAMD7	344658	broad.mit.edu	37	3	169637367	169637367	+	Silent	SNP	G	G	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr3:169637367G>A	ENST00000428432.2	+	3	470	c.81G>A	c.(79-81)gtG>gtA	p.V27V	SAMD7_ENST00000335556.3_Silent_p.V27V	NM_182610.2	NP_872416.1	Q7Z3H4	SAMD7_HUMAN	sterile alpha motif domain containing 7	27										NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)			CTCCAACTGTGGACAGGTATT	0.413000													34	34					0	0	0.000953801	0	0
ARID2	196528	broad.mit.edu	37	12	46205282	46205282	+	Silent	SNP	T	T	G			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr12:46205282T>G	ENST00000334344.6	+	4	538	c.366T>G	c.(364-366)ctT>ctG	p.L122L	ARID2_ENST00000422737.1_5'UTR	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	122					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		AGCCACAGCTTCCTATTGGTG	0.408000			"""N, S, F"""		hepatocellular carcinoma								6	17					0	0	0.00198382	0	0
C3	718	broad.mit.edu	37	19	6694622	6694622	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr19:6694622C>T	ENST00000245907.6	-	24	3066	c.2974G>A	c.(2974-2976)Gag>Aag	p.E992K		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	992					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)		ACGGCATCCTCTGTCATCTGG	0.632000													8	17					0	0	0.000157383	0	0
GPR158	57512	broad.mit.edu	37	10	25701363	25701363	+	Silent	SNP	C	C	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr10:25701363C>T	ENST00000376351.3	+	4	1655	c.1296C>T	c.(1294-1296)ttC>ttT	p.F432F		NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	432						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.F432F(1)		breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						TGCTCGACTTCGTTAGCATGC	0.478000													29	13					0	0	0.00111076	0	0
ELSPBP1	64100	broad.mit.edu	37	19	48523108	48523108	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr19:48523108G>A	ENST00000339841.2	+	5	666	c.488G>A	c.(487-489)gGa>gAa	p.G163E	ELSPBP1_ENST00000597519.1_Intron	NM_022142.4	NP_071425.3	Q96BH3	ESPB1_HUMAN	epididymal sperm binding protein 1	163	Fibronectin type-II 3.				single fertilization	extracellular region				NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(6)	10		all_cancers(25;8.7e-09)|all_lung(116;1.15e-06)|all_epithelial(76;1.17e-06)|Lung NSC(112;2.56e-06)|all_neural(266;0.0138)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000253)|all cancers(93;0.00129)|Epithelial(262;0.0314)|GBM - Glioblastoma multiforme(486;0.0606)		GATAAGGATGGAAAGTGGAGT	0.483000													10	11					0	0	0.000978159	0	0
MUC5B	727897	broad.mit.edu	37	11	1269208	1269208	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr11:1269208G>A	ENST00000447027.1	+	31	11165	c.11107G>A	c.(11107-11109)Gcc>Acc	p.A3703T	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000529681.1_Missense_Mutation_p.A3700T			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	3700	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GACCACAACAGCCACTACGAC	0.652000													66	54					0	0	0.000781405	0	0
EFCAB6	64800	broad.mit.edu	37	22	43950763	43950763	+	Silent	SNP	G	G	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr22:43950763G>A	ENST00000262726.7	-	27	3887	c.3634C>T	c.(3634-3636)Ctg>Ttg	p.L1212L	EFCAB6_ENST00000461800.1_5'UTR|EFCAB6_ENST00000396231.2_Silent_p.L1060L	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	1212	EF-hand 14.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				TCGTCCGTCAGGATTTGGACG	0.522000													22	72					0	0	0.00229938	0	0
OLFML2B	25903	broad.mit.edu	37	1	161976240	161976240	+	Silent	SNP	C	C	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr1:161976240C>T	ENST00000294794.3	-	4	993	c.570G>A	c.(568-570)aaG>aaA	p.K190K	OLFML2B_ENST00000367940.2_Silent_p.K190K	NM_015441.1	NP_056256.1	Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B	190										breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			GTTCATTTTCCTTGGTGAGGT	0.418000													60	29					0	0	0.000781405	0	0
ZFC3H1	196441	broad.mit.edu	37	12	72013165	72013165	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr12:72013165A>T	ENST00000378743.3	-	27	5432	c.5074T>A	c.(5074-5076)Ttt>Att	p.F1692I		NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	1692					RNA processing	intracellular	metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						TTCCGCAAAAATGGAAGAAGA	0.348000													15	18					0	0	0.00074312	0	0
MTMR4	9110	broad.mit.edu	37	17	56572663	56572663	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr17:56572663G>A	ENST00000323456.5	-	16	2964	c.2840C>T	c.(2839-2841)cCc>cTc	p.P947L	MTMR4_ENST00000579925.1_Missense_Mutation_p.P890L	NM_004687.4	NP_004678.3	Q9NYA4	MTMR4_HUMAN	myotubularin related protein 4	947						cytoplasm|membrane	metal ion binding|protein tyrosine phosphatase activity			breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CCCAAAGCAGGGCCCTGTGGC	0.567000													18	19					0	0	0.00121646	0	0
RCSD1	92241	broad.mit.edu	37	1	167666966	167666966	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr1:167666966G>A	ENST00000367854.3	+	6	1436	c.1105G>A	c.(1105-1107)Gaa>Aaa	p.E369K	RCSD1_ENST00000537350.1_Missense_Mutation_p.E339K	NM_052862.3	NP_443094.3	Q6JBY9	CPZIP_HUMAN	RCSD domain containing 1	369										NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	24	all_hematologic(923;0.215)					AAAAGGCAAGGAAAAACAACA	0.627000													9	4					0	0	0.000442599	0	0
MAGEA3	4102	broad.mit.edu	37	X	151935815	151935815	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chrX:151935815G>A	ENST00000393902.3	-	3	919	c.352C>T	c.(352-354)Cat>Tat	p.H118Y	MAGEA3_ENST00000370278.3_Missense_Mutation_p.H118Y			P43357	MAGA3_HUMAN	melanoma antigen family A, 3	118	MAGE.									endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)	15	Acute lymphoblastic leukemia(192;6.56e-05)					AGCAGAAAATGAACCAACTCG	0.537000													47	9					0	0	0.000781405	0	0
SPINK5	11005	broad.mit.edu	37	5	147475428	147475428	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr5:147475428G>A	ENST00000359874.3	+	10	915	c.842G>A	c.(841-843)gGa>gAa	p.G281E	SPINK5_ENST00000398454.1_Missense_Mutation_p.G281E|SPINK5_ENST00000256084.7_Missense_Mutation_p.G281E|SPINK5_ENST00000476608.1_3'UTR	NM_001127698.1	NP_001121170.1	Q9NQ38	ISK5_HUMAN	serine peptidase inhibitor, Kazal type 5	281	Kazal-like 4.				anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation	cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm	serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAAAATTTGGGAAAAGCTGAA	0.363000													13	14					0	0	0.00074312	0	0
C17orf102	400591	broad.mit.edu	37	17	32904560	32904560	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr17:32904560C>T	ENST00000357754.1	-	2	578	c.490G>A	c.(490-492)Gaa>Aaa	p.E164K		NM_207454.2	NP_997337.2	A2RUQ5	CQ102_HUMAN	chromosome 17 open reading frame 102	164										central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(3)|ovary(1)	9						aaagttagttccatgaggaca	0.458000													6	11					0	0	0.00116845	0	0
MUC2	4583	broad.mit.edu	37	11	1097747	1097747	+	Silent	SNP	C	C	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr11:1097747C>T	ENST00000441003.2	+	36	6867	c.6840C>T	c.(6838-6840)tcC>tcT	p.S2280S	MUC2_ENST00000361558.6_3'UTR	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	4642						inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	AGATCGTCTCCAACTGTGAGG	0.642000													15	13					0	0	0.000308642	0	0
PLXNB1	5364	broad.mit.edu	37	3	48448229	48448229	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr3:48448229C>T	ENST00000358536.4	-	36	6498		c.e36+1		PLXNB1_ENST00000358459.4_Splice_Site|PLXNB1_ENST00000296440.6_Splice_Site|PLXNB1_ENST00000456774.1_Splice_Site|PLXNB1_ENST00000448774.2_Splice_Site	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN	plexin B1						axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway	extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex	GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GGAGGCCTTACCCAGGACAGT	0.592000													10	3					0	0	0.000978159	0	0
ZNF695	57116	broad.mit.edu	37	1	247151498	247151498	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr1:247151498G>A	ENST00000339986.7	-	4	466	c.319C>T	c.(319-321)Caa>Taa	p.Q107*	ZNF695_ENST00000487338.2_Nonsense_Mutation_p.Q107*|ZNF695_ENST00000498046.2_5'UTR	NM_020394.4	NP_065127.4	Q8IW36	ZN695_HUMAN	zinc finger protein 695	107					regulation of transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			endometrium(1)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1)	13	all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			ATCACTTTTTGGAATGAAACT	0.378000													118	66					0	0	0.000781405	0	0
ZNF791	163049	broad.mit.edu	37	19	12738711	12738711	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr19:12738711C>T	ENST00000343325.4	+	4	530	c.368C>T	c.(367-369)aCt>aTt	p.T123I	ZNF791_ENST00000540038.1_Missense_Mutation_p.T14I|ZNF791_ENST00000446165.1_3'UTR|ZNF490_ENST00000465656.1_Intron|ZNF791_ENST00000458122.3_Missense_Mutation_p.T91I	NM_153358.2	NP_699189.2	Q3KP31	ZN791_HUMAN	zinc finger protein 791	123					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)	19						AGGTCTCACACTGGATACGAG	0.423000													58	72					0	0	0.000781405	0	0
LRP5L	91355	broad.mit.edu	37	22	25753279	25753279	+	Silent	SNP	G	G	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr22:25753279G>A	ENST00000444995.3	-	5	1081	c.381C>T	c.(379-381)gcC>gcT	p.A127A	LRP5L_ENST00000402859.2_Silent_p.A127A|LRP5L_ENST00000402785.2_Silent_p.A127A			A4QPB2	LRP5L_HUMAN	low density lipoprotein receptor-related protein 5-like	127										central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(2)	6						GCAGGTCCAGGGCCAGGCCGT	0.607000													21	17					0	0	0.00188189	0	0
SOHLH2	54937	broad.mit.edu	37	13	36748872	36748872	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr13:36748872G>A	ENST00000379881.3	-	7	864	c.776C>T	c.(775-777)gCc>gTc	p.A259V	CCDC169-SOHLH2_ENST00000511166.1_Missense_Mutation_p.A336V|SOHLH2_ENST00000554962.1_Missense_Mutation_p.A336V	NM_017826.2	NP_060296.2			spermatogenesis and oogenesis specific basic helix-loop-helix 2											autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;4.63e-08)|Epithelial(112;2.67e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00272)|BRCA - Breast invasive adenocarcinoma(63;0.00685)|GBM - Glioblastoma multiforme(144;0.0273)		GGCCATAACGGCTGGAGAGAT	0.363000													36	33					0	0	0.00170553	0	0
ATF7IP	55729	broad.mit.edu	37	12	14578046	14578046	+	Silent	SNP	A	A	G			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr12:14578046A>G	ENST00000544627.1	+	2	1541	c.1221A>G	c.(1219-1221)gaA>gaG	p.E407E	ATF7IP_ENST00000543189.1_Silent_p.E399E|ATF7IP_ENST00000261168.4_Silent_p.E399E|ATF7IP_ENST00000540793.1_Silent_p.E399E|ATF7IP_ENST00000536444.1_Silent_p.E399E|ATF7IP_ENST00000541654.1_3'UTR			Q6VMQ6	MCAF1_HUMAN	activating transcription factor 7 interacting protein	399	Glu-rich.				DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent		protein binding			cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						AAAAGAATGAAGATGAAACTT	0.333000													29	35					0	0	0.00106085	0	0
ANKRD17	26057	broad.mit.edu	37	4	73968111	73968111	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr4:73968111C>T	ENST00000358602.4	-	25	4671	c.4555G>A	c.(4555-4557)Gaa>Aaa	p.E1519K	ANKRD17_ENST00000330838.6_Missense_Mutation_p.E1268K|ANKRD17_ENST00000509867.2_Missense_Mutation_p.E1406K	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	1519					interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TTAAGCTTTTCTTTTTCTTGA	0.299000													21	32					0	0	0.00047179	0	0
AMPD2	271	broad.mit.edu	37	1	110167982	110167982	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr1:110167982C>T	ENST00000256578.3	+	2	671	c.311C>T	c.(310-312)cCc>cTc	p.P104L	AMPD2_ENST00000358729.4_Intron|AMPD2_ENST00000342115.4_Missense_Mutation_p.P23L|AMPD2_ENST00000528667.1_Missense_Mutation_p.P104L|AMPD2_ENST00000528454.1_5'UTR|AMPD2_ENST00000526301.1_3'UTR	NM_004037.7	NP_004028.3	Q01433	AMPD2_HUMAN	adenosine monophosphate deaminase 2	104					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			breast(1)|large_intestine(3)|ovary(2)|skin(1)	7		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.0425)|all cancers(265;0.0884)|Colorectal(144;0.109)|Epithelial(280;0.111)|LUSC - Lung squamous cell carcinoma(189;0.228)		CTGCCGGGCCCCGCCCCCTGC	0.677000													15	19					0	0	0.000566183	0	0
GLCE	26035	broad.mit.edu	37	15	69560649	69560649	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr15:69560649C>T	ENST00000261858.2	+	5	1148	c.920C>T	c.(919-921)tCc>tTc	p.S307F	GLCE_ENST00000559500.1_3'UTR|GLCE_ENST00000559420.2_Missense_Mutation_p.S243F	NM_015554.1	NP_056369.1	O94923	GLCE_HUMAN	glucuronic acid epimerase	307					heparan sulfate proteoglycan biosynthetic process|heparin biosynthetic process	Golgi membrane|integral to membrane	UDP-glucuronate 5'-epimerase activity			NS(1)|breast(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	18						GGAAGTGTGTCCGTGGTTCTA	0.373000													17	27					0	0	0.000566183	0	0
SCARB1	949	broad.mit.edu	37	12	125298849	125298849	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr12:125298849C>T	ENST00000339570.5	-	4	725	c.529G>A	c.(529-531)Ggt>Agt	p.G177S	SCARB1_ENST00000544327.1_Missense_Mutation_p.G123S|SCARB1_ENST00000376788.1_Missense_Mutation_p.G77S|SCARB1_ENST00000546215.1_Missense_Mutation_p.G177S|SCARB1_ENST00000261693.6_Missense_Mutation_p.G177S|SCARB1_ENST00000541205.1_Missense_Mutation_p.G136S|SCARB1_ENST00000540495.1_Missense_Mutation_p.G140S|SCARB1_ENST00000535005.1_5'UTR|SCARB1_ENST00000415380.2_Missense_Mutation_p.G177S	NM_001082959.1	NP_001076428.1	Q8WTV0	SCRB1_HUMAN	scavenger receptor class B, member 1	177					adhesion to symbiont|cell adhesion|cholesterol efflux|cholesterol homeostasis|cholesterol import|detection of lipopolysaccharide|high-density lipoprotein particle clearance|high-density lipoprotein particle remodeling|lipopolysaccharide transport|lipoprotein metabolic process|positive regulation of cholesterol storage|positive regulation of endothelial cell migration|positive regulation of nitric-oxide synthase activity|recognition of apoptotic cell|reverse cholesterol transport|triglyceride homeostasis|wound healing	caveola	1-phosphatidylinositol binding|apolipoprotein A-I binding|high-density lipoprotein particle receptor activity|lipopolysaccharide receptor activity|low-density lipoprotein particle binding|phosphatidylserine binding|transporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|prostate(1)	17	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000116)|Epithelial(86;0.000415)|all cancers(50;0.00395)	Phosphatidylserine(DB00144)	ATGATCTCACCCACAGTGCGG	0.517000													20	30					0	0	0.00152264	0	0
PPP1R3A	5506	broad.mit.edu	37	7	113519570	113519570	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr7:113519570A>C	ENST00000284601.3	-	4	1645	c.1577T>G	c.(1576-1578)gTt>gGt	p.V526G		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	526					glycogen metabolic process	integral to membrane				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						TTTTTCATTAACACCTAAATA	0.353000													6	1					0	0	0.00116845	0	0
PSG5	5673	broad.mit.edu	37	19	43679476	43679476	+	Silent	SNP	C	C	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr19:43679476C>T	ENST00000404580.1	-	4	943	c.855G>A	c.(853-855)aaG>aaA	p.K285K	PSG5_ENST00000407356.1_Silent_p.K285K|PSG5_ENST00000407568.1_Intron|PSG5_ENST00000366175.3_Silent_p.K285K|PSG5_ENST00000599812.1_Silent_p.K378K|PSG5_ENST00000342951.6_Silent_p.K285K			Q15238	PSG5_HUMAN	pregnancy specific beta-1-glycoprotein 5	285	Ig-like C2-type 2.				female pregnancy	extracellular region				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(69;0.00899)				GGATAGAGAGCTTTTGTCCTG	0.453000													35	50					0	0	0.000692331	0	0
CNGB3	54714	broad.mit.edu	37	8	87588076	87588076	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr8:87588076C>T	ENST00000320005.5	-	18	2433	c.2386G>A	c.(2386-2388)Gaa>Aaa	p.E796K		NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	796					signal transduction|visual perception	integral to membrane	cGMP binding			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						AGAACCTCTTCTCCGCCCTCA	0.423000													29	27					0	0	0.000692331	0	0
PRR5	55615	broad.mit.edu	37	22	45122507	45122507	+	Silent	SNP	C	C	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr22:45122507C>T	ENST00000403581.1	+	6	993	c.384C>T	c.(382-384)ttC>ttT	p.F128F	ARHGAP8_ENST00000517296.3_Silent_p.F105F|ARHGAP8_ENST00000389773.5_Silent_p.F96F|PRR5_ENST00000477331.1_3'UTR|PRR5-ARHGAP8_ENST00000361473.5_Silent_p.F105F|PRR5-ARHGAP8_ENST00000352766.7_Silent_p.F105F|PRR5_ENST00000336985.6_Silent_p.F105F	NM_001198721.1	NP_001185650.1			proline rich 5 (renal)											central_nervous_system(1)|endometrium(2)|lung(6)|prostate(1)|skin(1)	11		all_neural(38;0.00409)|Ovarian(80;0.024)|Glioma(61;0.0647)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)		AGATTCGCTTCTATGAGGGTG	0.637000													13	11					0	0	0.000308642	0	0
ASXL3	80816	broad.mit.edu	37	18	31320290	31320290	+	Silent	SNP	C	C	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr18:31320290C>T	ENST00000269197.5	+	11	2922	c.2922C>T	c.(2920-2922)atC>atT	p.I974I		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	974					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						GCTTTGGAATCTGTAAGGAAA	0.443000													4	9					0	0	0.000602214	0	0
PCDHGB2	56103	broad.mit.edu	37	5	140741831	140741831	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr5:140741831C>A	ENST00000522605.1	+	1	2129	c.2129C>A	c.(2128-2130)gCa>gAa	p.A710E	PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018923.2|NM_032096.1	NP_061746.1|NP_115267.1														endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGATTCTGGCAATCTCCCTG	0.582000													20	40					3.8784e-16	1.73445e-15	0.00188189	1	0
LRIG1	26018	broad.mit.edu	37	3	66430815	66430815	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr3:66430815C>A	ENST00000383703.3	-	20	3688	c.3085G>T	c.(3085-3087)Gcc>Tcc	p.A1029S	LRIG1_ENST00000496559.2_5'UTR|SLC25A26_ENST00000536651.1_3'UTR|LRIG1_ENST00000273261.3_Missense_Mutation_p.A1052S			Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like domains 1	1052						integral to membrane				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		AAGTACTGGGCTTCCGCGCGC	0.567000													43	49					2.24893e-16	1.00745e-15	0.00222228	1	0
ANO2	57101	broad.mit.edu	37	12	5841763	5841763	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr12:5841763G>A	ENST00000327087.8	-	15	1539	c.1468C>T	c.(1468-1470)Cga>Tga	p.R490*	ANO2_ENST00000538154.1_5'UTR|ANO2_ENST00000356134.5_Nonsense_Mutation_p.R491*|ANO2_ENST00000546188.1_Nonsense_Mutation_p.R491*			Q9NQ90	ANO2_HUMAN	anoctamin 2	495						chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						ATTTTCTCTCGAACTTTGGTT	0.453000													20	22					0	0	0.000375601	0	0
GRM7	2917	broad.mit.edu	37	3	7620516	7620516	+	Silent	SNP	C	C	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr3:7620516C>T	ENST00000486284.1	+	8	2197	c.1923C>T	c.(1921-1923)atC>atT	p.I641I	GRM7_ENST00000458641.2_3'UTR|GRM7_ENST00000389336.4_Silent_p.I641I|GRM7_ENST00000357716.4_Silent_p.I641I|GRM7_ENST00000402647.2_Silent_p.I641I|GRM7_ENST00000403881.1_Silent_p.I641I	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	641					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	TTTGCTACATCATCACTTTCC	0.498000													25	52					0	0	0.00209593	0	0
MUC2	4583	broad.mit.edu	37	11	1097792	1097792	+	Silent	SNP	C	C	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr11:1097792C>T	ENST00000441003.2	+	36	6912	c.6885C>T	c.(6883-6885)tcC>tcT	p.S2295S	MUC2_ENST00000361558.6_3'UTR	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	4657						inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	ACGACCCCTCCAAGCCACACT	0.657000													4	10					0	0	0.00024832	0	0
ASIC2	40	broad.mit.edu	37	17	32483320	32483320	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr17:32483320C>T	ENST00000359872.6	-	1	993	c.232G>A	c.(232-234)Gaa>Aaa	p.E78K		NM_001094.4	NP_001085.2	Q16515	ACCN1_HUMAN	acid-sensing (proton-gated) ion channel 2	78					central nervous system development|peripheral nervous system development|synaptic transmission	integral to plasma membrane	ligand-gated sodium channel activity|protein binding									Amiloride(DB00594)	GCCACCACTTCGTCCACCTTA	0.582000													9	18					0	0	0.000673444	0	0
EPHA5	2044	broad.mit.edu	37	4	66467820	66467820	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr4:66467820G>A	ENST00000273854.3	-	3	1049	c.449C>T	c.(448-450)aCc>aTc	p.T150I	EPHA5_ENST00000354839.4_Missense_Mutation_p.T150I|EPHA5_ENST00000432638.2_Missense_Mutation_p.T150I|EPHA5_ENST00000511294.1_Missense_Mutation_p.T150I	NM_004439.5	NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	150					cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						CATATTAAAGGTTTCCTTACA	0.418000										TSP Lung(17;0.13)			14	18					0	0	0.000219431	0	0
ALMS1	7840	broad.mit.edu	37	2	73613180	73613181	+	Frame_Shift_Del	DEL	CC	CC	-			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr2:73613180_73613181delCC	ENST00000264448.6	+	1	295_296	c.184_185delCC	c.(184-186)cfs	p.P62fs	ALMS1_ENST00000377715.1_Frame_Shift_Del_p.P62fs|ALMS1_ENST00000409009.1_Frame_Shift_Del_p.P62fs	NM_015120.4	NP_055935.4	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	62	Glu-rich.				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						TCACTACGGGCCCCAGCATCTG	0.683													2	4	---	---	---	---					
ZNF197	10168	broad.mit.edu	37	3	44685004	44685005	+	Frame_Shift_Del	DEL	GT	GT	-			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr3:44685004_44685005delGT	ENST00000396058.1	+	5	2549_2550	c.2382_2383delGT	c.(2380-2385)gagtfs	p.EC794fs	ZNF197_ENST00000383745.2_Intron|ZNF197_ENST00000344387.4_Frame_Shift_Del_p.EC794fs|ZNF197_ENST00000383744.4_Intron|RP11-944L7.4_ENST00000457331.1_RNA			O14709	ZN197_HUMAN	zinc finger protein 197	794					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)	25				KIRC - Kidney renal clear cell carcinoma(197;0.0478)|Kidney(197;0.0598)		AGTGTGATGAGTGTGGCAAATG	0.421													21	58	---	---	---	---					
MMP12	4321	broad.mit.edu	37	11	102738795	102738796	+	RNA	INS	-	-	T	rs33924686	by1000genomes	TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr11:102738795_102738796insT	ENST00000532855.1	-	0	725_726							P39900	MMP12_HUMAN	matrix metallopeptidase 12 (macrophage elastase)						positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	p.N211fs*20(2)		autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.014)	Acetohydroxamic Acid(DB00551)	AGGAACAAGTGGTGCCTAAGAA	0.416													3	6	---	---	---	---					
ATM	472	broad.mit.edu	37	11	108106555	108106556	+	Frame_Shift_Ins	INS	-	-	GGTTA			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr11:108106555_108106556insGGTTA	ENST00000278616.4	+	5	875_876	c.490_491insGGTTA	c.(490-492)gttfs	p.V164fs	ATM_ENST00000452508.2_Frame_Shift_Ins_p.V164fs	NM_000051.3	NP_000042.3	Q13315	ATM_HUMAN	ataxia telangiectasia mutated	164					cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		TCAGCAACAGTGGTTAGGTATG	0.371			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			14	56	---	---	---	---					
BRD7	29117	broad.mit.edu	37	16	50357594	50357595	+	Frame_Shift_Ins	INS	-	-	A			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr16:50357594_50357595insA	ENST00000394688.3	-	12	1505_1506	c.1346_1347insT	c.(1345-1347)tgcfs	p.C449fs	BRD7_ENST00000394689.2_Frame_Shift_Ins_p.C449fs			Q9NPI1	BRD7_HUMAN	bromodomain containing 7	449					cell cycle|negative regulation of cell proliferation|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of histone acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|nucleus	histone acetyl-lysine binding|p53 binding|transcription coactivator activity|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(2)	22		all_cancers(37;0.0127)				GGCACGTGGCCAAAAACTCATG	0.446													17	22	---	---	---	---					
DDX49	54555	broad.mit.edu	37	19	19039092	19039093	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-EE-A2GN-06A-11D-A196-08	TCGA-EE-A2GN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10bb1a92-901e-4a14-80f4-5e88f997754b	65d9054f-653a-4a10-9e25-1fe617481aa2	g.chr19:19039092_19039093delCT	ENST00000247003.4	+	13	1486_1487	c.1419_1420delCT	c.(1417-1422)cacafs	p.HS473fs	DDX49_ENST00000438170.2_3'UTR|AC002985.3_ENST00000596918.1_Intron	NM_019070.4	NP_061943.2	Q9Y6V7	DDX49_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 49	473							ATP binding|ATP-dependent helicase activity|RNA binding			breast(1)|endometrium(6)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	18			Epithelial(12;0.0289)			CTGGGTCCCACTCAGGCCCAGT	0.658													2	4	---	---	---	---