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
ZNF442	79973	broad.mit.edu	37	19	12462032	12462032	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr19:12462032C>T	ENST00000242804.4	-	6	949	c.367G>A	c.(367-369)Gaa>Aaa	p.E123K	ZNF442_ENST00000438182.1_Missense_Mutation_p.E54K	NM_030824.2	NP_110451.1	Q9H7R0	ZN442_HUMAN	zinc finger protein 442	123					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	31						CCCATGATTTCTCCACACACA	0.398000													19	60					0	0	0.00121646	0	0
MTSS1	9788	broad.mit.edu	37	8	125716371	125716371	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr8:125716371C>T	ENST00000518547.1	-	2	607	c.134_splice	c.e2+1	p.R45_splice	MTSS1_ENST00000354184.4_5'UTR|MTSS1_ENST00000378017.3_Splice_Site_p.R45_splice|MTSS1_ENST00000325064.5_Splice_Site_p.R45_splice	NM_014751.4	NP_055566.3	O43312	MTSS1_HUMAN	metastasis suppressor 1	45	IMD.				actin cytoskeleton organization|cell adhesion|cellular component movement|filopodium assembly|transmembrane receptor protein tyrosine kinase signaling pathway	actin cytoskeleton|endocytic vesicle|ruffle	actin monomer binding|cytoskeletal adaptor activity|receptor binding|SH3 domain binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37	Ovarian(258;0.00438)|all_neural(195;0.00459)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			TTCTACTTACCGAAGCTGGGA	0.448000													12	61					0	0	0.000978159	0	0
FRMPD1	22844	broad.mit.edu	37	9	37707446	37707446	+	Silent	SNP	G	G	A	rs112589819		TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr9:37707446G>A	ENST00000539465.1	+	3	728	c.135G>A	c.(133-135)agG>agA	p.R45R	RP11-613M10.9_ENST00000540557.1_Intron|FRMPD1_ENST00000377765.3_Silent_p.R45R			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	45						cytoskeleton|cytosol|plasma membrane				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		GGCCCGCCAGGAACCCAACTC	0.498000													17	31					0	0	0.00188189	0	0
ANXA10	11199	broad.mit.edu	37	4	169086467	169086467	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr4:169086467A>G	ENST00000359299.3	+	6	656	c.470A>G	c.(469-471)aAc>aGc	p.N157S		NM_007193.4	NP_009124.2	Q9UJ72	ANX10_HUMAN	annexin A10	157							calcium ion binding|calcium-dependent phospholipid binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(2)	16		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0325)		ACTCTCATGAACTTGGTCCAG	0.323000													6	33					0	0	0.00198382	0	0
RGS22	26166	broad.mit.edu	37	8	101016257	101016257	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr8:101016257C>T	ENST00000360863.6	-	17	2718	c.2524G>A	c.(2524-2526)Gat>Aat	p.D842N	RGS22_ENST00000519421.1_5'UTR|RGS22_ENST00000523437.1_Missense_Mutation_p.D830N|RGS22_ENST00000523287.1_Missense_Mutation_p.D661N	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	842					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity		RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			GGAACATTATCCCAATATTCT	0.358000													5	32					0	0	0.00116845	0	0
CDH4	1002	broad.mit.edu	37	20	60448822	60448822	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr20:60448822G>A	ENST00000360469.5	+	7	1004	c.916G>A	c.(916-918)Gac>Aac	p.D306N	CDH4_ENST00000543233.1_Missense_Mutation_p.D232N	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	306	Cadherin 2.				adherens junction organization|cell junction assembly		calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			CGATGCTGACGACAGCACCAC	0.622000													10	32					0	0	0.000673444	0	0
TBX19	9095	broad.mit.edu	37	1	168282099	168282099	+	Silent	SNP	G	G	A			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr1:168282099G>A	ENST00000367821.3	+	8	1257	c.1206G>A	c.(1204-1206)tcG>tcA	p.S402S	TBX19_ENST00000465440.1_3'UTR	NM_005149.2	NP_005140.1	O60806	TBX19_HUMAN	T-box 19	402					anatomical structure morphogenesis	nucleus	DNA binding			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(11)|prostate(2)|skin(2)|urinary_tract(1)	34	all_hematologic(923;0.215)					CACCCACTTCGGCTGGTGTGG	0.652000													10	26					0	0	0.00136819	0	0
ADH1B	125	broad.mit.edu	37	4	100232054	100232054	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr4:100232054T>C	ENST00000305046.8	-	8	1038	c.971A>G	c.(970-972)aAg>aGg	p.K324R	ADH1B_ENST00000394887.3_Missense_Mutation_p.K284R			P00325	ADH1B_HUMAN	alcohol dehydrogenase 1B (class I), beta polypeptide	324					ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	33				OV - Ovarian serous cystadenocarcinoma(123;1.02e-07)	Fomepizole(DB01213)|NADH(DB00157)	TTCTTTACTCTTAAAGCCTGA	0.328000													13	65					0	0	0.00400662	0	0
GDPD5	81544	broad.mit.edu	37	11	75146615	75146615	+	Silent	SNP	G	G	A			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr11:75146615G>A	ENST00000526177.1	-	13	3219	c.1341C>T	c.(1339-1341)acC>acT	p.T447T	GDPD5_ENST00000533805.1_Silent_p.T340T|GDPD5_ENST00000533784.1_Silent_p.T466T|GDPD5_ENST00000376282.3_Silent_p.T466T|GDPD5_ENST00000529721.1_Silent_p.T585T|GDPD5_ENST00000443276.2_3'UTR|GDPD5_ENST00000336898.3_Silent_p.T585T			Q8WTR4	GDPD5_HUMAN	glycerophosphodiester phosphodiesterase domain containing 5	585	GDPD.				glycerol metabolic process|lipid metabolic process|nervous system development	endomembrane system|growth cone|integral to membrane|perinuclear region of cytoplasm	glycerophosphodiester phosphodiesterase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|skin(2)	20						GGCCCACAGGGGTGGCGGTGC	0.582000													5	30					0	0	0.000602214	0	0
IKZF3	22806	broad.mit.edu	37	17	37922309	37922309	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr17:37922309G>A	ENST00000346872.3	-	8	1325	c.1264C>T	c.(1264-1266)Ccc>Tcc	p.P422S	IKZF3_ENST00000377958.2_Missense_Mutation_p.P335S|IKZF3_ENST00000535189.1_Missense_Mutation_p.P388S|IKZF3_ENST00000351680.3_Missense_Mutation_p.P383S|IKZF3_ENST00000583368.1_Missense_Mutation_p.P175S|IKZF3_ENST00000467757.1_Missense_Mutation_p.P366S|IKZF3_ENST00000439167.2_Missense_Mutation_p.P349S|IKZF3_ENST00000394189.2_Missense_Mutation_p.P240S|IKZF3_ENST00000377952.2_Missense_Mutation_p.P201S|IKZF3_ENST00000346243.3_Missense_Mutation_p.P344S|IKZF3_ENST00000350532.3_Missense_Mutation_p.P383S|IKZF3_ENST00000377945.3_Missense_Mutation_p.P288S|IKZF3_ENST00000439016.2_Missense_Mutation_p.P327S|IKZF3_ENST00000377944.3_Missense_Mutation_p.P279S	NM_012481.4	NP_036613.2	Q9UKT9	IKZF3_HUMAN	IKAROS family zinc finger 3 (Aiolos)	422					B cell activation|mesoderm development|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(6)|large_intestine(4)|liver(1)|lung(13)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42	Breast(7;4.5e-103)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			TAAGAGCGGGGAACCTCCTTC	0.537000													16	63					0	0	0.00400662	0	0
CASC3	22794	broad.mit.edu	37	17	38325652	38325652	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr17:38325652C>T	ENST00000264645.7	+	12	2267	c.2041C>T	c.(2041-2043)Ccc>Tcc	p.P681S		NM_007359.4	NP_031385.2	O15234	CASC3_HUMAN	cancer susceptibility candidate 3	681	Necessary for localization in cytoplasmic stress granules.				mRNA processing|mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|response to stress|RNA splicing	exon-exon junction complex|nuclear speck|perinuclear region of cytoplasm	identical protein binding|RNA binding|ubiquitin protein ligase binding			endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(2)	16						GCCCTCCCCACCCCGGAGGAC	0.592000													9	39					0	0	0.000274275	0	0
DSCAM	1826	broad.mit.edu	37	21	41559849	41559849	+	Silent	SNP	C	C	T			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr21:41559849C>T	ENST00000400454.1	-	13	3096	c.2619G>A	c.(2617-2619)gaG>gaA	p.E873E		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	873	Ig-like C2-type 9.				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)				TTCCACGGTCCTCCCCATAAG	0.413000													8	35					0	0	0.00307968	0	0
SRBD1	55133	broad.mit.edu	37	2	45789855	45789855	+	Missense_Mutation	SNP	G	G	C	rs150753231		TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr2:45789855G>C	ENST00000263736.4	-	10	1408	c.1346C>G	c.(1345-1347)aCg>aGg	p.T449R	SRBD1_ENST00000535761.1_5'UTR	NM_018079.4	NP_060549.4	Q8N5C6	SRBD1_HUMAN	S1 RNA binding domain 1	449					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		hydrolase activity, acting on ester bonds|RNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(13)|large_intestine(8)|lung(15)|skin(2)|stomach(1)|urinary_tract(1)	49		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)			GACCTTAACCGTCAGTACCTT	0.363000													4	39					0	0	0.00024832	0	0
CKM	1158	broad.mit.edu	37	19	45815063	45815063	+	Silent	SNP	G	G	A			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr19:45815063G>A	ENST00000221476.3	-	5	771	c.597C>T	c.(595-597)tcC>tcT	p.S199S		NM_001824.4	NP_001815.2	P06732	KCRM_HUMAN	creatine kinase, muscle	199	Phosphagen kinase C-terminal.				creatine metabolic process	cytosol	ATP binding|creatine kinase activity			cervix(1)|endometrium(1)|large_intestine(8)|lung(3)|prostate(2)|skin(2)	17		Ovarian(192;0.0336)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;2.29e-44)|Epithelial(262;1.05e-38)|GBM - Glioblastoma multiforme(486;3.56e-07)	Creatine(DB00148)	GCAGCAGCGGGGACACGGGCT	0.657000													6	13					0	0	0.00198382	0	0
HECW1	23072	broad.mit.edu	37	7	43351401	43351401	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr7:43351401G>A	ENST00000395891.1	+	4	672	c.67G>A	c.(67-69)Gcg>Acg	p.A23T	HECW1_ENST00000453890.1_Missense_Mutation_p.A23T	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	23					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						GGCCGCCATGGCGTCTCCTTC	0.597000													14	93					0	0	0.00400662	0	0
CTNNA2	1496	broad.mit.edu	37	2	80646628	80646628	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr2:80646628C>T	ENST00000466387.1	+	13	1916	c.1192C>T	c.(1192-1194)Cct>Tct	p.P398S	CTNNA2_ENST00000343114.3_Missense_Mutation_p.P77S|CTNNA2_ENST00000361291.4_Missense_Mutation_p.P432S|CTNNA2_ENST00000402739.4_Missense_Mutation_p.P398S|CTNNA2_ENST00000540488.1_Missense_Mutation_p.P398S|CTNNA2_ENST00000496558.1_Missense_Mutation_p.P398S|CTNNA2_ENST00000541047.1_Missense_Mutation_p.P398S			P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	398					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						AACCAATGTTCCTTTGCTAGT	0.393000													28	40					0	0	0.000878237	0	0
OR2M5	127059	broad.mit.edu	37	1	248309207	248309207	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr1:248309207G>A	ENST00000366476.1	+	1	758	c.758G>A	c.(757-759)gGa>gAa	p.G253E		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	253					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			ATGTACTATGGAGCAGGTTTG	0.498000													39	78					0	0	0.00195071	0	0
PCDHB16	57717	broad.mit.edu	37	5	140562470	140562470	+	Silent	SNP	C	C	T			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr5:140562470C>T	ENST00000361016.2	+	1	1491	c.336C>T	c.(334-336)aaC>aaT	p.N112N		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN		112	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TAATGGAAAACCCTTTAGAAA	0.398000													4	14					0	0	0.000602214	0	0
F13A1	2162	broad.mit.edu	37	6	6225052	6225052	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr6:6225052C>T	ENST00000264870.3	-	7	1105	c.840G>A	c.(838-840)tgG>tgA	p.W280*		NM_000129.3	NP_000120.2	P00488	F13A_HUMAN	coagulation factor XIII, A1 polypeptide	280					peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	AGATATTGTCCCAGGATCCAA	0.498000													9	49					0	0	0.000442599	0	0
TSC22D1	8848	broad.mit.edu	37	13	45008793	45008793	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr13:45008793G>A	ENST00000458659.2	-	3	3681	c.3191C>T	c.(3190-3192)cCa>cTa	p.P1064L	TSC22D1_ENST00000261489.2_Missense_Mutation_p.P135L|TSC22D1_ENST00000501704.2_Intron	NM_183422.3	NP_904358.2	Q15714	T22D1_HUMAN	TSC22 domain family, member 1	1064					transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding transcription factor activity			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118)		CTGCGATGCTGGCTGGGCGGG	0.652000													4	24					0	0	0.000602214	0	0
CCDC83	220047	broad.mit.edu	37	11	85627226	85627226	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr11:85627226G>A	ENST00000280245.4	+	11	1635	c.1123G>A	c.(1123-1125)Ggg>Agg	p.G375R	CCDC83_ENST00000376067.1_Missense_Mutation_p.G244R|CCDC83_ENST00000342404.3_Missense_Mutation_p.G344R	NM_173556.3	NP_775827.2	Q8IWF9	CCD83_HUMAN	coiled-coil domain containing 83	344										breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|skin(3)|upper_aerodigestive_tract(2)	29		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)				CACAGAGTTTGGGGACACTGA	0.358000													13	106					0	0	0.00185496	0	0
ZSWIM4	65249	broad.mit.edu	37	19	13941135	13941135	+	Silent	SNP	G	G	A			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr19:13941135G>A	ENST00000254323.2	+	13	2430	c.2241G>A	c.(2239-2241)cgG>cgA	p.R747R	ZSWIM4_ENST00000440752.2_Silent_p.R581R	NM_023072.2	NP_075560.2	Q9H7M6	ZSWM4_HUMAN	zinc finger, SWIM-type containing 4	747							zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27			OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19)			ACACATCGCGGAGGGAGGAGC	0.637000													7	25					0	0	0.00307968	0	0
GABRG1	2565	broad.mit.edu	37	4	46060533	46060533	+	Silent	SNP	C	C	T			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr4:46060533C>T	ENST00000295452.4	-	6	899	c.732G>A	c.(730-732)cgG>cgA	p.R244R		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	244					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)		CAGTTGAGTTCCGTAACCCTA	0.333000													9	30					0	0	0.000673444	0	0
CDC25A	993	broad.mit.edu	37	3	48219437	48219437	+	Silent	SNP	G	G	A			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr3:48219437G>A	ENST00000302506.3	-	7	999	c.591C>T	c.(589-591)ttC>ttT	p.F197F	CDC25A_ENST00000351231.3_Silent_p.F157F	NM_001789.2	NP_001780.2	P30304	MPIP1_HUMAN	cell division cycle 25A	197					cell cycle checkpoint|cell division|cell proliferation|cellular response to UV|DNA replication|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitosis|regulation of cyclin-dependent protein kinase activity|S phase of mitotic cell cycle	cytosol|nucleoplasm	protein binding|protein tyrosine phosphatase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	20				BRCA - Breast invasive adenocarcinoma(193;0.000685)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684)		AAAGAGGAATGAAATTCCCTG	0.428000													22	78					0	0	0.00395357	0	0
KRT20	54474	broad.mit.edu	37	17	39041341	39041341	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr17:39041341G>T	ENST00000167588.3	-	1	138	c.97C>A	c.(97-99)Ccc>Acc	p.P33T		NM_019010.2	NP_061883.1	P35900	K1C20_HUMAN	keratin 20	33	Head.				apoptosis|intermediate filament organization	Golgi apparatus|intermediate filament	protein binding|structural constituent of cytoskeleton			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(1)	14		Breast(137;0.000301)|Ovarian(249;0.15)				TAAACGCTGGGTGTCGTCCCG	0.607000													6	25					1.06961e-07	5.0911e-07	0.00307968	1	0
DFNB59	494513	broad.mit.edu	37	2	179323268	179323268	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr2:179323268G>A	ENST00000409117.3	+	5	937	c.581G>A	c.(580-582)gGa>gAa	p.G194E	DFNB59_ENST00000375129.4_Missense_Mutation_p.G194E|DFNB59_ENST00000605419.1_3'UTR	NM_001042702.3	NP_001036167.1	Q0ZLH3	PJVK_HUMAN	deafness, autosomal recessive 59	194					sensory perception of sound					breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.0159)|all cancers(119;0.0564)			AATCCCAAGGGAAGGGACAAA	0.353000													18	40					0	0	0.000566183	0	0
SART1	9092	broad.mit.edu	37	11	65733863	65733863	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr11:65733863G>A	ENST00000312397.5	+	9	1116	c.1024G>A	c.(1024-1026)Gaa>Aaa	p.E342K		NM_005146.4	NP_005137.1	O43290	SNUT1_HUMAN	squamous cell carcinoma antigen recognized by T cells	342					cell cycle arrest|induction of apoptosis by intracellular signals|positive regulation of cytotoxic T cell differentiation|spliceosomal snRNP assembly	Cajal body|catalytic step 2 spliceosome|cytosol				endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						CGAAGAGCTTGAAGGGGAGCG	0.622000													4	22					0	0	0.000602214	0	0
MUC16	94025	broad.mit.edu	37	19	9047542	9047542	+	Silent	SNP	C	C	T			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr19:9047542C>T	ENST00000397910.4	-	5	34292	c.34089G>A	c.(34087-34089)agG>agA	p.R11363R		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11365	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						TAGGGGTTGTCCTGGGAACTG	0.488000													27	132					0	0	0.00209593	0	0
CDH18	1016	broad.mit.edu	37	5	19503173	19503173	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr5:19503173C>T	ENST00000507958.1	-	13	2548	c.1558G>A	c.(1558-1560)Gga>Aga	p.G520R	CDH18_ENST00000502796.1_Missense_Mutation_p.G520R|CDH18_ENST00000274170.4_Missense_Mutation_p.G520R|CDH18_ENST00000506372.1_Missense_Mutation_p.G520R|CDH18_ENST00000511273.1_Missense_Mutation_p.G520R|CDH18_ENST00000382275.1_Missense_Mutation_p.G520R			Q13634	CAD18_HUMAN	cadherin 18, type 2	520	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					AACCTTGGTCCATTGGCAAAA	0.333000													5	34					0	0	0.00116845	0	0
DNAH10	196385	broad.mit.edu	37	12	124341693	124341693	+	Silent	SNP	C	C	T			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr12:124341693C>T	ENST00000409039.3	+	36	6200	c.6175C>T	c.(6175-6177)Ctg>Ttg	p.L2059L		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	2059					microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		GATTTCGGATCTGTTTCCTGG	0.542000													7	37					0	0	0.00198382	0	0
KIF1B	23095	broad.mit.edu	37	1	10332333	10332333	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr1:10332333T>G	ENST00000377086.1	+	9	1035	c.833T>G	c.(832-834)tTg>tGg	p.L278W	KIF1B_ENST00000377083.1_Missense_Mutation_p.L278W|KIF1B_ENST00000377093.4_Missense_Mutation_p.L278W|KIF1B_ENST00000377081.1_Missense_Mutation_p.L278W|KIF1B_ENST00000263934.6_Missense_Mutation_p.L278W			O60333	KIF1B_HUMAN	kinesin family member 1B	278	Interaction with KBP.|Kinesin-motor.				anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		CTTACAACTTTGGGCAAAGTC	0.318000													5	71					0	0	0.000602214	0	0
GIP	2695	broad.mit.edu	37	17	47044539	47044539	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr17:47044539C>T	ENST00000357424.2	-	2	156	c.56G>A	c.(55-57)gGa>gAa	p.G19E		NM_004123.2	NP_004114.1	P09681	GIP_HUMAN	gastric inhibitory polypeptide	19					energy reserve metabolic process|signal transduction	extracellular region|soluble fraction	hormone activity			lung(2)|skin(1)|stomach(1)	4						CTCTCCTAGTCCCACTGCCAG	0.522000													9	58					0	0	0.000978159	0	0
ADAM21	8747	broad.mit.edu	37	14	70925048	70925048	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr14:70925048G>A	ENST00000603540.1	+	2	1090	c.832G>A	c.(832-834)Gat>Aat	p.D278N	RP11-486O13.4_ENST00000556646.1_lincRNA|ADAM21_ENST00000267499.3_Missense_Mutation_p.D278N	NM_003813.3	NP_003804.2	Q9UKJ8	ADA21_HUMAN	ADAM metallopeptidase domain 21	278	Peptidase M12B.				proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		GGTCCTGAACGATTTCTCTCA	0.353000													6	39					0	0	0.00116845	0	0
ATP8B2	57198	broad.mit.edu	37	1	154317975	154317975	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr1:154317975C>T	ENST00000368489.3	+	23	2747	c.2747C>T	c.(2746-2748)aCc>aTc	p.T916I		NM_020452.3	NP_065185.1	P98198	AT8B2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 2	902					ATP biosynthetic process	plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity		IL6R/ATP8B2(2)	breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			TTTGCTTTCACCATGGTCCAC	0.488000											OREG0013835	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	66	146					0	0	0.00361006	0	0
POLR2H	5437	broad.mit.edu	37	3	184086001	184086001	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr3:184086001G>A	ENST00000429568.1	+	5	495	c.436G>A	c.(436-438)Gct>Act	p.A146T	POLR2H_ENST00000452961.1_Silent_p.R88R|EIF2B5_ENST00000444495.1_Intron|POLR2H_ENST00000443489.1_Silent_p.R60R|POLR2H_ENST00000430783.1_Silent_p.R96R|POLR2H_ENST00000296223.3_Silent_p.R124R|POLR2H_ENST00000438240.1_Silent_p.R88R|POLR2H_ENST00000456318.1_Silent_p.R124R	NM_001278698.1	NP_001265627.1	P52434	RPAB3_HUMAN	polymerase (RNA) II (DNA directed) polypeptide H	0					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|termination of RNA polymerase I transcription|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription elongation from RNA polymerase III promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex|nucleolus	DNA-directed RNA polymerase activity|protein binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	11	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TGCTCATGAGGCTGCAGGGGG	0.567000													7	46					0	0	0.00198382	0	0
CCDC67	159989	broad.mit.edu	37	11	93097393	93097393	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr11:93097393G>A	ENST00000298050.3	+	5	465	c.365G>A	c.(364-366)cGa>cAa	p.R122Q		NM_181645.3	NP_857596.2	Q05D60	CCD67_HUMAN	coiled-coil domain containing 67	122										endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		Acute lymphoblastic leukemia(157;2.35e-05)|all_hematologic(158;0.00824)				AAAGTTCCACGAAAAGAATTA	0.294000													6	36					0	0	0.00116845	0	0
RYR1	6261	broad.mit.edu	37	19	39038922	39038922	+	Silent	SNP	G	G	A			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr19:39038922G>A	ENST00000355481.4	+	88	12260	c.12129G>A	c.(12127-12129)gtG>gtA	p.V4043V	RYR1_ENST00000359596.3_Silent_p.V4048V|RYR1_ENST00000360985.3_Silent_p.V4043V	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	4048					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	ACATGCTCGTGGAATCCTCAT	0.567000													8	24					0	0	0.000442599	0	0
PLCB1	23236	broad.mit.edu	37	20	8696984	8696984	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr20:8696984G>A	ENST00000378641.3	+	13	1799	c.1324G>A	c.(1324-1326)Gaa>Aaa	p.E442K	PLCB1_ENST00000494924.1_3'UTR|PLCB1_ENST00000378637.2_Missense_Mutation_p.E442K|PLCB1_ENST00000338037.6_Missense_Mutation_p.E442K	NM_182734.1	NP_877398.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	442	PI-PLC X-box.				activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						GGAGCCCCTGGAAAAATATCC	0.438000													11	28					0	0	0.00136819	0	0
FAM83G	644815	broad.mit.edu	37	17	18881398	18881398	+	Silent	SNP	C	C	T			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr17:18881398C>T	ENST00000388995.6	-	5	1804	c.1581G>A	c.(1579-1581)ctG>ctA	p.L527L	FAM83G_ENST00000345041.4_Silent_p.L527L|FAM83G_ENST00000585154.2_Silent_p.L527L|SLC5A10_ENST00000417251.2_Intron|SLC5A10_ENST00000395647.2_Intron|SLC5A10_ENST00000395642.1_Intron|SLC5A10_ENST00000395645.3_Intron|SLC5A10_ENST00000317977.6_Intron|SLC5A10_ENST00000395643.2_Intron			A6ND36	FA83G_HUMAN	family with sequence similarity 83, member G	527										central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						TGGGGAGCTCCAGGACCCAGC	0.647000													10	51					0	0	0.00136819	0	0
TATDN2	9797	broad.mit.edu	37	3	10320601	10320601	+	Silent	SNP	G	G	A			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr3:10320601G>A	ENST00000287652.4	+	7	3229	c.2178G>A	c.(2176-2178)ccG>ccA	p.P726P	TATDN2_ENST00000496355.1_3'UTR|RP11-438J1.1_ENST00000450534.1_3'UTR|TATDN2_ENST00000448281.2_Silent_p.P726P	NM_014760.3	NP_055575.3	Q93075	TATD2_HUMAN	TatD DNase domain containing 2	726						nucleus	endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(9)|pancreas(2)|prostate(1)|stomach(2)	28						ATGCCCACCCGGGCCTGGCCT	0.532000													4	30					0	0	0.000602214	0	0
NEFM	4741	broad.mit.edu	37	8	24774698	24774698	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr8:24774698C>T	ENST00000221166.5	+	3	2112	c.1330C>T	c.(1330-1332)Ccc>Tcc	p.P444S	NEFM_ENST00000518131.1_Missense_Mutation_p.P444S|NEFM_ENST00000521540.1_3'UTR|NEFM_ENST00000433454.2_Missense_Mutation_p.P68S|NEFM_ENST00000437366.2_Missense_Mutation_p.P444S			P07197	NFM_HUMAN	neurofilament, medium polypeptide	444	Tail.					neurofilament	protein binding|structural constituent of cytoskeleton			breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1)	36		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)		GGTGGAAGCTCCCAAGCTTAA	0.463000													4	33					0	0	0.000602214	0	0
MUC5B	727897	broad.mit.edu	37	11	1254364	1254364	+	Silent	SNP	G	G	A			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr11:1254364G>A	ENST00000447027.1	+	18	2254	c.2196G>A	c.(2194-2196)gtG>gtA	p.V732V	MUC5B_ENST00000529681.1_Silent_p.V729V			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	729	TIL 2.				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)		TCGTGCCTGTGGACGGCTGCA	0.697000													4	12					0	0	0.00024832	0	0
PAK4	10298	broad.mit.edu	37	19	39665671	39665671	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr19:39665671G>A	ENST00000599386.1	+	5	921	c.740G>A	c.(739-741)gGa>gAa	p.G247E	PAK4_ENST00000358301.3_Missense_Mutation_p.G400E|PAK4_ENST00000321944.4_Missense_Mutation_p.G310E|PAK4_ENST00000593690.1_Missense_Mutation_p.G400E|PAK4_ENST00000435673.2_Missense_Mutation_p.G400E|PAK4_ENST00000599470.1_Missense_Mutation_p.G247E|PAK4_ENST00000360442.3_Missense_Mutation_p.G400E	NM_001014835.1	NP_001014835.1	O96013	PAK4_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 4	400	Linker.				cellular component movement|signal transduction	Golgi apparatus	ATP binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	13	all_cancers(60;1.03e-07)|all_epithelial(25;9.66e-08)|all_lung(34;1.58e-07)|Lung NSC(34;1.88e-07)|Ovarian(47;0.0454)		Epithelial(26;4.82e-25)|all cancers(26;2.94e-22)|Lung(45;0.000797)|LUSC - Lung squamous cell carcinoma(53;0.00113)			TTCCTGGAAGGAGGCGCCCTC	0.597000													5	73					0	0	0.00116845	0	0
SYT16	83851	broad.mit.edu	37	14	62462927	62462927	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr14:62462927G>A	ENST00000430451.2	+	1	387	c.190G>A	c.(190-192)Gaa>Aaa	p.E64K	SYT16_ENST00000446982.2_Missense_Mutation_p.E64K	NM_031914.2	NP_114120.2	Q17RD7	SYT16_HUMAN	synaptotagmin XVI	64										central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		TCAGATTCAGGAAACGTACTT	0.358000													9	87					0	0	0.000274275	0	0
NPNT	255743	broad.mit.edu	37	4	106859511	106859511	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr4:106859511G>A	ENST00000379987.2	+	5	655	c.439G>A	c.(439-441)Gga>Aga	p.G147R	NPNT_ENST00000305572.8_Missense_Mutation_p.G147R|NPNT_ENST00000506666.1_Missense_Mutation_p.G177R|NPNT_ENST00000514622.1_Missense_Mutation_p.G147R|NPNT_ENST00000427316.2_Missense_Mutation_p.G177R|NPNT_ENST00000453617.2_Missense_Mutation_p.G164R	NM_001033047.2	NP_001028219.1	Q6UXI9	NPNT_HUMAN	nephronectin	147	EGF-like 3.				cell differentiation	membrane	calcium ion binding			kidney(5)|large_intestine(2)|lung(10)|prostate(2)|skin(1)|urinary_tract(1)	21		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.41e-07)		TGTTGTTAAAGGACAAATACG	0.517000													6	53					0	0	0.00116845	0	0
MYH2	4620	broad.mit.edu	37	17	10429120	10429120	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr17:10429120C>T	ENST00000245503.5	-	31	4645	c.4261G>A	c.(4261-4263)Gaa>Aaa	p.E1421K	CTC-297N7.7_ENST00000581304.1_RNA|MYH2_ENST00000532183.1_Intron|CTC-297N7.7_ENST00000587182.1_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.E1421K|CTC-297N7.7_ENST00000399342.2_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1421					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						TTCGTCTTTTCGAGGGAAGCA	0.512000													6	50					0	0	0.00307968	0	0
MYOZ2	51778	broad.mit.edu	37	4	120107261	120107261	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr4:120107261G>A	ENST00000307128.5	+	6	914	c.701G>A	c.(700-702)aGg>aAg	p.R234K		NM_016599.4	NP_057683.1	Q9NPC6	MYOZ2_HUMAN	myozenin 2	234							protein phosphatase 2B binding			endometrium(1)|large_intestine(6)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16						TCCTTTAATAGGACTCCTAAG	0.388000													11	39					0	0	0.00136819	0	0
ENPP2	5168	broad.mit.edu	37	8	120620200	120620200	+	Silent	SNP	G	G	A			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr8:120620200G>A	ENST00000427067.2	-	9	963	c.783C>T	c.(781-783)acC>acT	p.T261T	ENPP2_ENST00000259486.6_Silent_p.T265T|ENPP2_ENST00000522826.1_Silent_p.T265T|ENPP2_ENST00000075322.6_Silent_p.T265T			Q13822	ENPP2_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 2	265					cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration	extracellular space|integral to plasma membrane	alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			CCCCTTGCTTGGTGGCTGTAA	0.318000													4	18					0	0	0.000602214	0	0
CCDC30	728621	broad.mit.edu	37	1	43055042	43055042	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr1:43055042T>C	ENST00000428554.2	+	16	2414	c.1271T>C	c.(1270-1272)tTa>tCa	p.L424S	CCDC30_ENST00000507855.1_Missense_Mutation_p.L213S|CCDC30_ENST00000390640.4_Missense_Mutation_p.L213S|CCDC30_ENST00000342022.4_Missense_Mutation_p.L424S|CCDC30_ENST00000340612.4_Missense_Mutation_p.L424S			Q5VVM6	CCD30_HUMAN	coiled-coil domain containing 30	424										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	30						GTGAGAACCTTACAAGATAAA	0.358000													7	34					0	0	0.00198382	0	0
FRMPD4	9758	broad.mit.edu	37	X	12736019	12736019	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chrX:12736019G>C	ENST00000380682.1	+	16	3580	c.3074G>C	c.(3073-3075)aGc>aCc	p.S1025T		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	1025					positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						TCCTGCACTAGCAAAAGGAAA	0.512000													4	49					0	0	0.000602214	0	0
POLR2H	5437	broad.mit.edu	37	3	184086000	184086000	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr3:184086000G>A	ENST00000456318.1	+	6	1420	c.371G>A	c.(370-372)aGg>aAg	p.R124K	POLR2H_ENST00000452961.1_Missense_Mutation_p.R88K|EIF2B5_ENST00000444495.1_Intron|POLR2H_ENST00000443489.1_Missense_Mutation_p.R60K|POLR2H_ENST00000430783.1_Missense_Mutation_p.R96K|POLR2H_ENST00000296223.3_Missense_Mutation_p.R124K|POLR2H_ENST00000438240.1_Missense_Mutation_p.R88K|POLR2H_ENST00000429568.1_Silent_p.E145E	NM_001278699.1	NP_001265628.1	P52434	RPAB3_HUMAN	polymerase (RNA) II (DNA directed) polypeptide H	124					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|termination of RNA polymerase I transcription|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription elongation from RNA polymerase III promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex|nucleolus	DNA-directed RNA polymerase activity|protein binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	11	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CTGCTCATGAGGCTGCAGGGG	0.567000													7	46					0	0	0.00198382	0	0
GIMAP8	155038	broad.mit.edu	37	7	150171244	150171244	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr7:150171244G>A	ENST00000307271.3	+	4	1401	c.827G>A	c.(826-828)gGa>gAa	p.G276E		NM_175571.2	NP_783161.1	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	276						endoplasmic reticulum|Golgi apparatus|mitochondrion	GTP binding			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		TTTCAGACCGGATTTAGTGAG	0.502000													11	79					0	0	0.000978159	0	0
ATG14	22863	broad.mit.edu	37	14	55836571	55836571	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr14:55836571T>A	ENST00000247178.5	-	10	1280	c.1245A>T	c.(1243-1245)gaA>gaT	p.E415D		NM_014924.4	NP_055739.2	Q6ZNE5	BAKOR_HUMAN	autophagy related 14	415					autophagic vacuole assembly|positive regulation of autophagy	autophagic vacuole|endoplasmic reticulum|pre-autophagosomal structure membrane	protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(2)	13						TCTCATCTGATTCTCCAGCAA	0.537000													9	41					0	0	0.000978159	0	0
PCLO	27445	broad.mit.edu	37	7	82764395	82764395	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr7:82764395G>A	ENST00000423517.2	-	3	2808	c.2471C>T	c.(2470-2472)cCt>cTt	p.P824L	PCLO_ENST00000333891.8_Missense_Mutation_p.P824L	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	770	Pro-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	p.P824L(4)|p.P770L(2)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						ATCTGATGCAGGTCGAGGTAT	0.438000													24	141					0	0	0.00395357	0	0
OPRM1	4988	broad.mit.edu	37	6	154360946	154360946	+	Silent	SNP	C	C	T			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr6:154360946C>T	ENST00000414028.2	+	1	317	c.267C>T	c.(265-267)ttC>ttT	p.F89F	OPRM1_ENST00000229768.5_Silent_p.F89F|OPRM1_ENST00000518759.1_Intron|OPRM1_ENST00000434900.2_Silent_p.F182F|OPRM1_ENST00000520708.1_Intron|OPRM1_ENST00000435918.2_Silent_p.F89F|OPRM1_ENST00000523520.1_3'UTR|OPRM1_ENST00000428397.2_Silent_p.F89F|OPRM1_ENST00000330432.7_Silent_p.F89F|OPRM1_ENST00000419506.2_Silent_p.F89F|OPRM1_ENST00000524163.1_Silent_p.F89F|OPRM1_ENST00000337049.4_Silent_p.F89F|OPRM1_ENST00000452687.2_Silent_p.F89F|OPRM1_ENST00000360422.4_Silent_p.F89F	NM_001145284.2	NP_001138756.1	P35372	OPRM_HUMAN	opioid receptor, mu 1	89					behavior|negative regulation of cell proliferation|sensory perception	endoplasmic reticulum|Golgi apparatus|integral to plasma membrane	mu-opioid receptor activity|protein binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	33		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;9.26e-11)|BRCA - Breast invasive adenocarcinoma(81;0.0154)	Alfentanil(DB00802)|Anileridine(DB00913)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dezocine(DB01209)|Diphenoxylate(DB01081)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Levallorphan(DB00504)|Levomethadyl Acetate(DB01227)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Methadyl Acetate(DB01433)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tramadol(DB00193)	TCGGAAACTTCCTGGTCATGT	0.587000													5	25					0	0	0.00307968	0	0
BAG6	7917	broad.mit.edu	37	6	31609612	31609612	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr6:31609612G>A	ENST00000404765.2	-	17	2735	c.2446C>T	c.(2446-2448)Cga>Tga	p.R816*	BAG6_ENST00000375964.6_Nonsense_Mutation_p.R786*|BAG6_ENST00000362049.6_Nonsense_Mutation_p.R780*|BAG6_ENST00000375976.4_Nonsense_Mutation_p.R780*|BAG6_ENST00000211379.5_Nonsense_Mutation_p.R780*|BAG6_ENST00000439687.2_Nonsense_Mutation_p.R654*			P46379	BAG6_HUMAN	BCL2-associated athanogene 6	786					apoptosis in response to endoplasmic reticulum stress|brain development|cell differentiation|chromatin modification|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|embryo development|internal peptidyl-lysine acetylation|kidney development|lung development|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|protein stabilization|spermatogenesis|synaptonemal complex assembly|tail-anchored membrane protein insertion into ER membrane|transport|ubiquitin-dependent protein catabolic process	BAT3 complex|nucleus	polyubiquitin binding|proteasome binding|ribosome binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(2)|pancreas(2)|skin(3)|urinary_tract(2)	36						AAGAAGGATCGCAGCTGGGGC	0.562000													20	233					0	0	0.00121646	0	0
NPIPB15	440348	broad.mit.edu	37	16	74425591	74425591	+	Silent	SNP	G	G	A			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr16:74425591G>A	ENST00000429990.1	+	7	1041	c.945G>A	c.(943-945)gtG>gtA	p.V315V						nuclear pore complex interacting protein family, member B15																		CACCCTCAGTGGATGATAATC	0.512000													8	164					0	0	0.000978159	0	0
MDC1	9656	broad.mit.edu	37	6	30680344	30680344	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr6:30680344C>T	ENST00000376406.3	-	5	2022	c.1375G>A	c.(1375-1377)Gag>Aag	p.E459K	MDC1-AS1_ENST00000442150.1_RNA|MDC1_ENST00000376405.2_Missense_Mutation_p.E459K	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	459	Required for nuclear localization (NLS1).				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|kidney(1)|ovary(1)	4						AGCTCTTCCTCCTCCACGTCT	0.493000								Other conserved DNA damage response genes					16	44					0	0	0.000566183	0	0
PCDHGA9	56107	broad.mit.edu	37	5	140784277	140784277	+	Silent	SNP	C	C	T			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr5:140784277C>T	ENST00000573521.1	+	1	1758	c.1758C>T	c.(1756-1758)taC>taT	p.Y586Y	PCDHGB2_ENST00000522605.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018921.2|NM_032089.1	NP_061744.1|NP_114478.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCCTGGCTACCTGGTGACCA	0.597000													7	60					0	0	0.000673444	0	0
MAP4K2	5871	broad.mit.edu	37	11	64567806	64567806	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr11:64567806G>A	ENST00000294066.2	-	11	875	c.784C>T	c.(784-786)Ccg>Tcg	p.P262S	MAP4K2_ENST00000377350.3_Missense_Mutation_p.P262S	NM_004579.3	NP_004570.2	Q12851	M4K2_HUMAN	mitogen-activated protein kinase kinase kinase kinase 2	262	Protein kinase.				activation of JUN kinase activity|immune response|positive regulation of JNK cascade|vesicle targeting	basolateral plasma membrane|Golgi membrane|soluble fraction	ATP binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine kinase activity|small GTPase regulator activity			cervix(1)|lung(3)|ovary(1)|pancreas(1)|urinary_tract(2)	8						TCTGCTGTCGGCCTCTTCTTA	0.602000													7	51					0	0	0.000274275	0	0
ALDOC	230	broad.mit.edu	37	17	26900872	26900872	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr17:26900872G>A	ENST00000226253.4	-	8	1355	c.880C>T	c.(880-882)Cga>Tga	p.R294*	ALDOC_ENST00000395321.2_Nonsense_Mutation_p.R294*|ALDOC_ENST00000395319.3_Nonsense_Mutation_p.R266*|RP11-192H23.5_ENST00000585189.1_RNA	NM_005165.2	NP_005156.1	P09972	ALDOC_HUMAN	aldolase C, fructose-bisphosphate	294					fructose 1,6-bisphosphate metabolic process|gluconeogenesis|glycolysis	cytosol	cytoskeletal protein binding|fructose-bisphosphate aldolase activity			breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	11	Lung NSC(42;0.00431)					GCCCAGGGTCGGGGAAGGGGG	0.602000													10	62					0	0	0.00136819	0	0
CBLC	23624	broad.mit.edu	37	19	45297477	45297477	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr19:45297477C>T	ENST00000270279.3	+	9	1364	c.1301C>T	c.(1300-1302)cCt>cTt	p.P434L	CBLC_ENST00000341505.4_Missense_Mutation_p.P388L	NM_012116.3	NP_036248.3	Q9ULV8	CBLC_HUMAN	Cbl proto-oncogene C, E3 ubiquitin protein ligase	434					cell surface receptor linked signaling pathway|negative regulation of epidermal growth factor receptor activity|negative regulation of MAP kinase activity|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	calcium ion binding|epidermal growth factor receptor binding|phosphotyrosine binding|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|kidney(1)|lung(6)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Lung NSC(12;0.00136)|all_lung(12;0.00371)	Ovarian(192;0.231)				CTTTCGGCTCCTCCATTGCCC	0.627000			M		AML								18	99					0	0	0.00188189	0	0
C1orf105	92346	broad.mit.edu	37	1	172434488	172434488	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr1:172434488G>A	ENST00000367727.4	+	6	589	c.391G>A	c.(391-393)Gat>Aat	p.D131N	C1orf105_ENST00000367725.4_Missense_Mutation_p.D121N|C1orf105_ENST00000367726.1_3'UTR	NM_139240.3	NP_640333.3	O95561	CA105_HUMAN	chromosome 1 open reading frame 105	131										large_intestine(1)|lung(12)|prostate(1)|skin(1)	15						GCCTTTCCATGATGACATCCC	0.368000													8	70					0	0	0.000442599	0	0
IGHV3-16	28447	broad.mit.edu	37	14	106622069	106622069	+	RNA	SNP	G	G	A			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr14:106622069G>A	ENST00000390604.2	-	0	249																											CTTTCCTGGAGCCTTGCGGGC	0.577000													18	108					0	0	0.00152264	0	0
IGHV1-46	28465	broad.mit.edu	37	14	106967191	106967191	+	RNA	SNP	A	A	T			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr14:106967191A>T	ENST00000390622.2	-	0	512																											ACTAGGGTTGATTATTCCCAT	0.547000													12	45					0	0	0.00136819	0	0
WHSC1L1	54904	broad.mit.edu	37	8	38194889	38194889	+	Missense_Mutation	SNP	G	G	A	rs74585221		TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr8:38194889G>A	ENST00000317025.8	-	4	1361	c.844C>T	c.(844-846)Cct>Tct	p.P282S	WHSC1L1_ENST00000527502.1_Missense_Mutation_p.P282S|WHSC1L1_ENST00000316985.3_Missense_Mutation_p.P282S|WHSC1L1_ENST00000433384.2_Missense_Mutation_p.P282S|RP11-513D5.2_ENST00000527912.1_RNA	NM_023034.1	NP_075447.1	Q9BZ95	NSD3_HUMAN	Wolf-Hirschhorn syndrome candidate 1-like 1	282	PWWP 1.				cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome	histone-lysine N-methyltransferase activity|zinc ion binding			NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)			GGCCACCAAGGATAGGTTCCC	0.428000			T	NUP98	AML								8	36					0	0	0.00307968	0	0
H3F3C	440093	broad.mit.edu	37	12	31944931	31944931	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr12:31944931G>A	ENST00000340398.3	-	1	244	c.170C>T	c.(169-171)tCg>tTg	p.S57L		NM_001013699.2	NP_001013721.2	Q6NXT2	H3C_HUMAN	H3 histone, family 3C	57					nucleosome assembly	nucleosome|nucleus	DNA binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	18						CAGCTCGGTCGACTTCTGATA	0.592000										HNSCC(67;0.2)			7	37					0	0	0.00307968	0	0
ZFHX4	79776	broad.mit.edu	37	8	77766741	77766741	+	Silent	SNP	C	C	T			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr8:77766741C>T	ENST00000521891.2	+	10	8032	c.7584C>T	c.(7582-7584)ttC>ttT	p.F2528F	ZFHX4_ENST00000455469.2_Silent_p.F2483F|ZFHX4_ENST00000050961.6_Silent_p.F2483F|ZFHX4_ENST00000518282.1_Silent_p.F2502F	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2483						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			ACTCTCCGTTCTTGGAAAGGC	0.517000										HNSCC(33;0.089)			12	84					0	0	0.000978159	0	0
NBPF3	84224	broad.mit.edu	37	1	21799391	21799391	+	Silent	SNP	G	G	A			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr1:21799391G>A	ENST00000318220.6	+	9	1597	c.549G>A	c.(547-549)caG>caA	p.Q183Q	NBPF3_ENST00000454000.2_Silent_p.Q169Q|NBPF3_ENST00000342104.5_Silent_p.Q239Q|NBPF3_ENST00000318249.5_Silent_p.Q239Q			Q9H094	NBPF3_HUMAN	neuroblastoma breakpoint family, member 3	239						cytoplasm				breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	20		all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		AGAAAGTACAGGAATTATATG	0.413000													7	30					0	0	0.00307968	0	0
ABCC8	6833	broad.mit.edu	37	11	17427101	17427101	+	Silent	SNP	C	C	T			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr11:17427101C>T	ENST00000302539.4	-	27	3467	c.3342G>A	c.(3340-3342)gaG>gaA	p.E1114E	ABCC8_ENST00000389817.3_Silent_p.E1113E	NM_000352.3	NP_000343.2	Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	1113	ABC transmembrane type-1 2.				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	GGGGCGTGGTCTCAAAAAACC	0.448000													26	141					0	0	0.000720815	0	0
MAPK3	5595	broad.mit.edu	37	16	30128278	30128278	+	Silent	SNP	C	C	T			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr16:30128278C>T	ENST00000484663.1	-	6	1745	c.612G>A	c.(610-612)cgG>cgA	p.R204R	MAPK3_ENST00000395202.1_Silent_p.R274R|MAPK3_ENST00000395200.1_Silent_p.R250R|MAPK3_ENST00000403394.1_Silent_p.R318R|MAPK3_ENST00000263025.4_Silent_p.R318R|MAPK3_ENST00000322266.5_Silent_p.R274R|MAPK3_ENST00000395199.3_Silent_p.R318R			P27361	MK03_HUMAN	mitogen-activated protein kinase 3	318	Protein kinase.				activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle|cellular response to mechanical stimulus|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|interleukin-1-mediated 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|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter|Ras protein signal transduction|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription initiation from RNA polymerase I promoter	cytosol|nucleoplasm	ATP binding|MAP kinase activity|phosphatase binding									Arsenic trioxide(DB01169)|Isoproterenol(DB01064)|Simvastatin(DB00641)|Sulindac(DB00605)	CCACTGTGATCCGTTTATTGG	0.602000													17	90					0	0	0.00152264	0	0
MAGEA4	4103	broad.mit.edu	37	X	151092512	151092512	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chrX:151092512C>T	ENST00000370340.3	+	3	643	c.376C>T	c.(376-378)Cga>Tga	p.R126*	MAGEA4_ENST00000393921.1_Nonsense_Mutation_p.R126*|MAGEA4_ENST00000360243.2_Nonsense_Mutation_p.R126*|MAGEA4_ENST00000370337.4_Nonsense_Mutation_p.R126*|MAGEA4_ENST00000370335.1_Nonsense_Mutation_p.R126*|MAGEA4_ENST00000393920.1_Nonsense_Mutation_p.R126*|MAGEA4_ENST00000276344.2_Nonsense_Mutation_p.R126*			P43358	MAGA4_HUMAN	melanoma antigen family A, 4	126	MAGE.						protein binding			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)	27	Acute lymphoblastic leukemia(192;6.56e-05)					CCGCAAGTATCGAGCCAAGGA	0.527000													11	25					0	0	0.000978159	0	0
HNF4G	3174	broad.mit.edu	37	8	76472605	76472605	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr8:76472605C>T	ENST00000396423.2	+	9	1244	c.1120C>T	c.(1120-1122)Cat>Tat	p.H374Y	HNF4G_ENST00000354370.1_Missense_Mutation_p.H337Y	NM_004133.4	NP_004124.4	Q14541	HNF4G_HUMAN	hepatocyte nuclear factor 4, gamma	337					endocrine pancreas development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	37	Breast(64;0.0448)		BRCA - Breast invasive adenocarcinoma(89;0.161)			CAGTCATCTCCATCATCCAAT	0.388000													5	15					0	0	0.000602214	0	0
BRINP3	339479	broad.mit.edu	37	1	190250796	190250796	+	Silent	SNP	G	G	A			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr1:190250796G>A	ENST00000367462.3	-	3	552	c.321C>T	c.(319-321)ttC>ttT	p.F107F	RP11-547I7.1_ENST00000452178.1_RNA|FAM5C_ENST00000534846.1_Intron|FAM5C_ENST00000484105.1_Intron	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN		107						extracellular region		p.F107L(1)		NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					TGTTGCGGAAGAATTCAGGGG	0.433000													13	20					0	0	0.00400662	0	0
GIMAP8	155038	broad.mit.edu	37	7	150163851	150163851	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr7:150163851G>A	ENST00000307271.3	+	2	639	c.65G>A	c.(64-66)gGa>gAa	p.G22E		NM_175571.2	NP_783161.1	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	22						endoplasmic reticulum|Golgi apparatus|mitochondrion	GTP binding			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		TGCCGCTCGGGAAAAAGTGCC	0.527000													11	44					0	0	0.000673444	0	0
ADAM28	10863	broad.mit.edu	37	8	24200663	24200663	+	Missense_Mutation	SNP	C	C	T	rs139411715		TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr8:24200663C>T	ENST00000265769.4	+	17	1990	c.1880C>T	c.(1879-1881)aCc>aTc	p.T627I	ADAM28_ENST00000397649.3_Missense_Mutation_p.T374I|RP11-624C23.1_ENST00000518988.1_RNA|RP11-624C23.1_ENST00000523700.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28	627	Cys-rich.|EGF-like.				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)		TACAAATCAACCAATTGCTCA	0.368000													9	44					0	0	0.000442599	0	0
ZSCAN5A	79149	broad.mit.edu	37	19	56736307	56736307	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr19:56736307C>T	ENST00000587340.1	-	4	804	c.109G>A	c.(109-111)Gac>Aac	p.D37N	ZSCAN5A_ENST00000592355.1_Missense_Mutation_p.D37N|ZSCAN5A_ENST00000391713.1_Missense_Mutation_p.D37N|ZSCAN5A_ENST00000587492.1_Intron|ZSCAN5A_ENST00000254165.3_Intron			Q9BUG6	ZSA5A_HUMAN	zinc finger and SCAN domain containing 5A	37					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						GGGTCCACGTCGTGATTTCCA	0.527000													5	52					0	0	0.00116845	0	0
CCDC83	220047	broad.mit.edu	37	11	85627214	85627214	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr11:85627214G>A	ENST00000280245.4	+	11	1623	c.1111G>A	c.(1111-1113)Ggc>Agc	p.G371S	CCDC83_ENST00000376067.1_Missense_Mutation_p.G240S|CCDC83_ENST00000342404.3_Missense_Mutation_p.G340S	NM_173556.3	NP_775827.2	Q8IWF9	CCD83_HUMAN	coiled-coil domain containing 83	340										breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|skin(3)|upper_aerodigestive_tract(2)	29		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)				GGAAAACTCAGGCACAGAGTT	0.368000													19	95					0	0	0.00074312	0	0
MORC1	27136	broad.mit.edu	37	3	108751625	108751625	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr3:108751625C>T	ENST00000232603.5	-	16	1589	c.1507G>A	c.(1507-1509)Gaa>Aaa	p.E503K	MORC1_ENST00000483760.1_Missense_Mutation_p.E503K	NM_014429.3	NP_055244.3	Q86VD1	MORC1_HUMAN	MORC family CW-type zinc finger 1	503					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						AATTCTTTTTCCTGATAATTA	0.289000													10	45					0	0	0.00136819	0	0
CLK3	1198	broad.mit.edu	37	15	74922068	74922068	+	Silent	SNP	C	C	T			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr15:74922068C>T	ENST00000395066.3	+	13	2222	c.1761C>T	c.(1759-1761)tcC>tcT	p.S587S	CLK3_ENST00000352989.5_Silent_p.S416S|CLK3_ENST00000348245.3_3'UTR|CLK3_ENST00000345005.4_Silent_p.S439S	NM_001130028.1	NP_001123500.1	P49761	CLK3_HUMAN	CDC-like kinase 3	587	Protein kinase.					acrosomal vesicle|nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)|stomach(2)|urinary_tract(1)	15						TCCAAGACTCCCTGGAGCACG	0.602000													5	8					0	0	0.00307968	0	0
CYP24A1	1591	broad.mit.edu	37	20	52775632	52775632	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr20:52775632T>A	ENST00000216862.3	-	8	1414	c.1021A>T	c.(1021-1023)Aat>Tat	p.N341Y	CYP24A1_ENST00000395955.3_Missense_Mutation_p.N341Y|CYP24A1_ENST00000395954.3_Missense_Mutation_p.N199Y	NM_000782.4	NP_000773.2	Q07973	CP24A_HUMAN	cytochrome P450, family 24, subfamily A, polypeptide 1	341					hormone biosynthetic process|osteoblast differentiation|vitamin D catabolic process|vitamin D receptor signaling pathway|xenobiotic metabolic process	mitochondrial inner membrane	1-alpha,25-dihydroxyvitamin D3 24-hydroxylase activity|electron carrier activity|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen			breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Lung NSC(4;1.08e-05)|all_lung(4;2.7e-05)		STAD - Stomach adenocarcinoma(23;0.206)		Calcidiol(DB00146)|Calcitriol(DB00136)|Cholecalciferol(DB00169)|Ergocalciferol(DB00153)|Paricalcitol(DB00910)	CGGGATAAATTGTAGAGAATC	0.368000													16	55					0	0	0.000958276	0	0
TIE1	7075	broad.mit.edu	37	1	43772851	43772851	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr1:43772851G>A	ENST00000372476.3	+	5	758	c.679G>A	c.(679-681)Gag>Aag	p.E227K	TIE1_ENST00000538015.1_Missense_Mutation_p.E227K|TIE1_ENST00000441333.2_Missense_Mutation_p.E227K	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	227	EGF-like 1.				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CTGTACCAAGGAGTGCCCAGG	0.622000													5	34					0	0	0.000602214	0	0
NEFL	4747	broad.mit.edu	37	8	24811049	24811049	+	RNA	SNP	C	C	T			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr8:24811049C>T	ENST00000221169.5	-	0	2024							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)		tcctcctcctcGGCTTCTCCT	0.532000													3	4					0	0	6.4e-05	0	0
RIMBP2	23504	broad.mit.edu	37	12	130919306	130919306	+	Silent	SNP	G	G	A			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr12:130919306G>A	ENST00000261655.4	-	11	2338	c.2175C>T	c.(2173-2175)ttC>ttT	p.F725F	RIMBP2_ENST00000535703.1_Silent_p.F633F|RIMBP2_ENST00000536002.1_Silent_p.F633F	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	725						cell junction|synapse				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		AGCCTTTCAGGAAGTCGTCCA	0.657000													11	80					0	0	0.000978159	0	0
APOPT1	84334	broad.mit.edu	37	14	104056554	104056554	+	Silent	SNP	C	C	T			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr14:104056554C>T	ENST00000409074.2	+	5	553	c.552C>T	c.(550-552)ttC>ttT	p.F184F	APOPT1_ENST00000477116.1_3'UTR|RP11-73M18.2_ENST00000472726.2_Intron|APOPT1_ENST00000247618.4_Silent_p.F171F|APOPT1_ENST00000556253.2_3'UTR	NM_032374.3	NP_115750.2			apoptogenic 1, mitochondrial																		TCACCTTCTTCATGGGAAAAG	0.512000													8	116					0	0	0.000274275	0	0
EPHA10	284656	broad.mit.edu	37	1	38227564	38227564	+	Silent	SNP	G	G	A			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr1:38227564G>A	ENST00000373048.4	-	3	362	c.363C>T	c.(361-363)acC>acT	p.T121T	EPHA10_ENST00000319637.6_Silent_p.T121T|EPHA10_ENST00000427468.2_Silent_p.T121T	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN	EPH receptor A10	121						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)				TCTCCTTGCAGGTACCCGCGG	0.652000													9	57					0	0	0.000442599	0	0
ZFPM2	23414	broad.mit.edu	37	8	106573624	106573624	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr8:106573624G>A	ENST00000407775.2	+	4	585	c.335G>A	c.(334-336)cGa>cAa	p.R112Q	ZFPM2_ENST00000520492.1_5'UTR|ZFPM2_ENST00000517361.1_5'UTR	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	112					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding	p.R112Q(1)		NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			GATGGGGAACGAAAAATTCAG	0.438000													5	22					0	0	0.000602214	0	0
ZNF85	7639	broad.mit.edu	37	19	21131852	21131852	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr19:21131852A>G	ENST00000601023.1	+	2	1001	c.355A>G	c.(355-357)Aaa>Gaa	p.K119E	ZNF85_ENST00000345030.6_Missense_Mutation_p.K145E|ZNF85_ENST00000328178.8_Missense_Mutation_p.K178E			Q03923	ZNF85_HUMAN	zinc finger protein 85	178						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)	20						CAAATGTACAAAATGTGGCAA	0.294000													13	53					0	0	0.00136819	0	0
SLC2A7	155184	broad.mit.edu	37	1	9074868	9074868	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr1:9074868C>T	ENST00000400906.1	-	7	774	c.775G>A	c.(775-777)Gag>Aag	p.E259K		NM_207420.2	NP_997303.2	Q6PXP3	GTR7_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 7	259						integral to membrane|plasma membrane	sugar transmembrane transporter activity	p.E259K(1)		NS(1)|breast(1)|endometrium(4)|large_intestine(10)|lung(4)|prostate(2)|skin(2)	24	Ovarian(185;0.112)|all_lung(157;0.185)	all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.04e-07)|COAD - Colon adenocarcinoma(227;7.66e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642)		GCCCGGGCCTCCGCACGCATG	0.687000													3	2					0	0	6.4e-05	0	0
CYP4F12	66002	broad.mit.edu	37	19	15806987	15806987	+	Silent	SNP	C	C	T			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr19:15806987C>T	ENST00000550308.1	+	11	1646	c.1266C>T	c.(1264-1266)atC>atT	p.I422I	CYP4F12_ENST00000324632.9_Silent_p.I422I	NM_023944.3	NP_076433.3			cytochrome P450, family 4, subfamily F, polypeptide 12											NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)					CCTGCCTCATCGATATTATAG	0.572000													8	33					0	0	0.000442599	0	0
KRT75	9119	broad.mit.edu	37	12	52827645	52827645	+	Silent	SNP	C	C	T			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr12:52827645C>T	ENST00000252245.5	-	1	664	c.444G>A	c.(442-444)gaG>gaA	p.E148E		NM_004693.2	NP_004684.2	O95678	K2C75_HUMAN	keratin 75	148	Head.					keratin filament	structural molecule activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(10)|prostate(1)|skin(1)	28				BRCA - Breast invasive adenocarcinoma(357;0.192)		GCTCGCGCTCCTCGGCCCGCA	0.562000													13	45					0	0	0.00244969	0	0
TMC3	342125	broad.mit.edu	37	15	81660664	81660664	+	Missense_Mutation	SNP	G	G	A	rs140022845	by1000genomes	TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr15:81660664G>A	ENST00000558726.1	-	3	377	c.242C>T	c.(241-243)gCg>gTg	p.A81V	TMC3_ENST00000359440.5_Missense_Mutation_p.A81V			Q7Z5M5	TMC3_HUMAN	transmembrane channel-like 3	81						integral to membrane				autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						AATGTTCTTCGCTTGTCTAAG	0.448000													9	94					0	0	0.000274275	0	0
GDF5	8200	broad.mit.edu	37	20	34022260	34022260	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr20:34022260C>T	ENST00000374372.1	-	4	1456	c.953G>A	c.(952-954)cGg>cAg	p.R318Q	GDF5OS_ENST00000374375.1_Missense_Mutation_p.R102C|GDF5_ENST00000374369.3_Missense_Mutation_p.R318Q			P43026	GDF5_HUMAN	growth differentiation factor 5	318					cartilage development|cell-cell signaling|growth|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(9)|skin(3)	26	Lung NSC(9;0.00642)|all_lung(11;0.0094)		BRCA - Breast invasive adenocarcinoma(18;0.00663)			GGCCCTGCCCCGTTCCCAGGC	0.657000													4	9					0	0	0.00024832	0	0
DRP2	1821	broad.mit.edu	37	X	100497922	100497922	+	Silent	SNP	C	C	T			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chrX:100497922C>T	ENST00000395209.3	+	9	1532	c.1005C>T	c.(1003-1005)ctC>ctT	p.L335L	DRP2_ENST00000402866.1_Silent_p.L335L|DRP2_ENST00000538510.1_Silent_p.L335L|DRP2_ENST00000541709.1_Silent_p.L257L	NM_001939.2	NP_001930.2	Q13474	DRP2_HUMAN	dystrophin related protein 2	335					central nervous system development	cytoplasm|cytoskeleton	zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	31						TTAAGCAGCTCCAGGATGCCC	0.532000													13	21					0	0	0.00244969	0	0
TSHZ2	128553	broad.mit.edu	37	20	51870548	51870548	+	Missense_Mutation	SNP	G	G	A	rs149724132	byFrequency	TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr20:51870548G>A	ENST00000371497.5	+	2	1438	c.551G>A	c.(550-552)cGg>cAg	p.R184Q	TSHZ2_ENST00000603338.2_Missense_Mutation_p.R181Q|TSHZ2_ENST00000329613.6_Missense_Mutation_p.R181Q	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	184					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)			TTGCCTTCTCGGTCCGTCTCG	0.557000													8	38					0	0	0.00307968	0	0
PEX1	5189	broad.mit.edu	37	7	92131228	92131228	+	Missense_Mutation	SNP	G	G	T	rs61750414		TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr7:92131228G>T	ENST00000248633.4	-	14	2487	c.2392C>A	c.(2392-2394)Cgt>Agt	p.R798S	PEX1_ENST00000541751.1_Intron|PEX1_ENST00000438045.1_Missense_Mutation_p.R476S|PEX1_ENST00000428214.1_Missense_Mutation_p.R741S	NM_000466.2	NP_000457.1	O43933	PEX1_HUMAN	peroxisomal biogenesis factor 1	798			R -> G (in PBD-CG1; Zellweger spectrum).		microtubule-based peroxisome localization|protein import into peroxisome matrix	cytosol|nucleus|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			ATACTCTGACGAGAGAGTCGA	0.398000													5	145					0.000602214	0.0028408	0.000602214	1	0
ZNF43	7594	broad.mit.edu	37	19	21992551	21992551	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr19:21992551G>T	ENST00000594012.1	-	7	784	c.270C>A	c.(268-270)ttC>ttA	p.F90L	ZNF43_ENST00000354959.4_Missense_Mutation_p.F96L|ZNF43_ENST00000598381.1_Missense_Mutation_p.F90L|ZNF43_ENST00000595461.1_Missense_Mutation_p.F90L	NM_001256649.1|NM_001256651.1|NM_001256653.1|NM_001256654.1	NP_001243578.1|NP_001243580.1|NP_001243582.1|NP_001243583.1	P17038	ZNF43_HUMAN	zinc finger protein 43	96					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		TCGCTTTTTGGAAAGGATCTT	0.328000													8	71					7.48243e-07	3.54019e-06	0.000442599	1	0
ATP8B1	5205	broad.mit.edu	37	18	55399013	55399013	+	Silent	SNP	C	C	A			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr18:55399013C>A	ENST00000536015.1	-	2	146	c.27G>T	c.(25-27)acG>acT	p.T9T	RP11-35G9.3_ENST00000599199.1_RNA|ATP8B1_ENST00000283684.4_Silent_p.T9T|RP11-35G9.5_ENST00000588925.1_RNA	NM_005603.4	NP_005594.1	O43520	AT8B1_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 1	9					ATP biosynthetic process|bile acid and bile salt transport|negative regulation of transcription, DNA-dependent	apical plasma membrane|integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(19)|ovary(3)|prostate(1)	53		Colorectal(73;0.229)				CGTCAAATGTCGTTTCTGAGT	0.433000													18	82					9.57634e-11	4.57184e-10	0.00332997	1	0
PKHD1	5314	broad.mit.edu	37	6	51889856	51889856	+	Silent	SNP	G	G	A			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr6:51889856G>A	ENST00000371117.3	-	32	5027	c.4752C>T	c.(4750-4752)agC>agT	p.S1584S	PKHD1_ENST00000340994.4_Silent_p.S1584S	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	1584	IPT/TIG 11.		S -> I (in ARPKD).		cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					CACCATGTAAGCTGAAATTCT	0.438000													12	30					0	0	0.00136819	0	0
TOX2	84969	broad.mit.edu	37	20	42694499	42694499	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr20:42694499C>T	ENST00000358131.5	+	6	1262	c.1054C>T	c.(1054-1056)Cct>Tct	p.P352S	TOX2_ENST00000341197.3_Missense_Mutation_p.P370S|TOX2_ENST00000435864.2_Missense_Mutation_p.P248S|TOX2_ENST00000423191.1_Missense_Mutation_p.P328S|TOX2_ENST00000372999.1_Missense_Mutation_p.P328S	NM_001098798.1	NP_001092268.1	Q96NM4	TOX2_HUMAN	TOX high mobility group box family member 2	352					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)			TGGGGCCTCCCCTGCCAGCCT	0.697000													9	33					0	0	0.000673444	0	0
CDC42BPB	9578	broad.mit.edu	37	14	103404735	103404735	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr14:103404735G>A	ENST00000361246.2	-	35	5129	c.4841C>T	c.(4840-4842)cCc>cTc	p.P1614L		NM_006035.3	NP_006026.3	Q9Y5S2	MRCKB_HUMAN	CDC42 binding protein kinase beta (DMPK-like)	1614					actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		CTCCTGGGAGGGGGGCACAGC	0.637000													8	28					0	0	0.000442599	0	0
PDE1A	5136	broad.mit.edu	37	2	183104998	183104998	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr2:183104998A>C	ENST00000435564.1	-	3	437	c.237T>G	c.(235-237)gaT>gaG	p.D79E	PDE1A_ENST00000358139.2_Missense_Mutation_p.D79E|PDE1A_ENST00000456212.1_Missense_Mutation_p.D79E|PDE1A_ENST00000410103.1_Missense_Mutation_p.D79E|PDE1A_ENST00000409365.1_Missense_Mutation_p.D63E|PDE1A_ENST00000536095.1_5'UTR|PDE1A_ENST00000351439.5_Missense_Mutation_p.D63E|PDE1A_ENST00000482538.1_5'UTR|PDE1A_ENST00000346717.4_Missense_Mutation_p.D45E|PDE1A_ENST00000331935.6_Missense_Mutation_p.D79E	NM_001258312.1|NM_005019.4	NP_001245241.1|NP_005010.2	P54750	PDE1A_HUMAN	phosphodiesterase 1A, calmodulin-dependent	79					activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2)	35			OV - Ovarian serous cystadenocarcinoma(117;0.061)			CACTGAGCTCATCTTCAGTAT	0.363000													5	38					0	0	0.000602214	0	0
PIEZO2	63895	broad.mit.edu	37	18	10677820	10677820	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr18:10677820G>A	ENST00000302079.6	-	48	7476	c.7477C>T	c.(7477-7479)Cct>Tct	p.P2493S	PIEZO2_ENST00000285141.4_Missense_Mutation_p.P348S|PIEZO2_ENST00000581680.1_5'UTR|PIEZO2_ENST00000503781.3_Missense_Mutation_p.P2556S|PIEZO2_ENST00000538948.1_Missense_Mutation_p.P513S|PIEZO2_ENST00000580640.1_Missense_Mutation_p.P2581S			Q9H5I5	PIEZ2_HUMAN	piezo-type mechanosensitive ion channel component 2	2556						integral to membrane	ion channel activity										TTTTTAAGAGGAAAAGAAAGC	0.323000													4	33					0	0	0.000602214	0	0
SLC9C1	285335	broad.mit.edu	37	3	111996615	111996615	+	Silent	SNP	G	G	A			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr3:111996615G>A	ENST00000305815.5	-	5	663	c.411C>T	c.(409-411)acC>acT	p.T137T	SLC9C1_ENST00000487372.1_Silent_p.T137T	NM_183061.1	NP_898884.1	Q4G0N8	S9A10_HUMAN	solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1	137					cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis	cilium|flagellar membrane|integral to membrane	solute:hydrogen antiporter activity										ATAACCATTGGGTAGGCTTCA	0.358000													12	54					0	0	0.000978159	0	0
CEACAM18	729767	broad.mit.edu	37	19	51981873	51981873	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr19:51981873C>T	ENST00000451626.1	+	2	160	c.160C>T	c.(160-162)Ctc>Ttc	p.L54F				A8MTB9	CEA18_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 18	54						integral to membrane				breast(1)|endometrium(4)|large_intestine(3)|lung(8)|skin(1)	17		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		GGGACCCCTCCTCCTGGAGGA	0.622000													5	16					0	0	0.00116845	0	0
TMEM18	129787	broad.mit.edu	37	2	669634	669634	+	Silent	SNP	C	C	A			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr2:669634C>A	ENST00000281017.3	-	5	462	c.369G>T	c.(367-369)ctG>ctT	p.L123L	TMEM18_ENST00000405941.3_Silent_p.L126L|TMEM18_ENST00000355654.2_Silent_p.L110L	NM_152834.2	NP_690047.2	Q96B42	TMM18_HUMAN	transmembrane protein 18	123					cell migration	integral to membrane|nuclear membrane				endometrium(1)|large_intestine(1)|lung(7)|ovary(1)	10	all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;5.27e-05)|all_epithelial(98;2.11e-06)|Ovarian(717;0.0253)		all cancers(51;1.95e-21)|Epithelial(75;9.47e-21)|OV - Ovarian serous cystadenocarcinoma(76;8.15e-18)|GBM - Glioblastoma multiforme(21;0.0285)		GTGCATTCTTCAGGTCAGTCA	0.423000													12	25					4.3838e-07	2.08034e-06	0.00185496	1	0
LAMC1	3915	broad.mit.edu	37	1	183087213	183087213	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr1:183087213C>T	ENST00000258341.4	+	11	2179	c.1922C>T	c.(1921-1923)cCt>cTt	p.P641L		NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)	641	Laminin IV type A.				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent	p.P641L(1)		NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GCTCTTACCCCTTTTGAATTT	0.423000													33	86					0	0	0.0024448	0	0
C1QTNF2	114898	broad.mit.edu	37	5	159776541	159776541	+	Silent	SNP	C	C	T			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr5:159776541C>T	ENST00000393975.3	-	3	630	c.627G>A	c.(625-627)cgG>cgA	p.R209R		NM_031908.4	NP_114114.2	Q9BXJ5	C1QT2_HUMAN	C1q and tumor necrosis factor related protein 2	164	C1q.					collagen				breast(2)|endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(3)	13	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TGATGGGCAGCCGCTCCCGTG	0.592000													15	60					0	0	0.00244969	0	0
SDK2	54549	broad.mit.edu	37	17	71354240	71354240	+	Silent	SNP	G	G	A			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr17:71354240G>A	ENST00000392650.3	-	40	5571	c.5571C>T	c.(5569-5571)taC>taT	p.Y1857Y	SDK2_ENST00000388726.3_Silent_p.Y1838Y|SDK2_ENST00000410094.1_5'UTR	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	1857	Fibronectin type-III 13.				cell adhesion	integral to membrane				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						CCTCGATGACGTAGCGGGTGA	0.652000													12	131					0	0	0.00185496	0	0
PHEX	5251	broad.mit.edu	37	X	22117214	22117214	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chrX:22117214C>G	ENST00000379374.4	+	9	1589	c.1024C>G	c.(1024-1026)Cgc>Ggc	p.R342G	PHEX_ENST00000535894.1_Missense_Mutation_p.R245G|PHEX_ENST00000537599.1_Missense_Mutation_p.R342G|PHEX_ENST00000475778.1_3'UTR|PHEX_ENST00000418858.3_Missense_Mutation_p.R45G	NM_000444.4	NP_000435.3	P78562	PHEX_HUMAN	phosphate regulating endopeptidase homolog, X-linked	342					biomineral tissue development|cell-cell signaling|protein modification process|proteolysis|skeletal system development	integral to plasma membrane	aminopeptidase activity|metalloendopeptidase activity|zinc ion binding	p.R342C(1)		breast(1)|cervix(2)|endometrium(2)|large_intestine(12)|liver(1)|lung(19)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	42						TGTGGTGGTCCGCGTCCCGCA	0.453000													8	40					0	0	0.000274275	0	0
CCDC30	728621	broad.mit.edu	37	1	43055041	43055041	+	Silent	SNP	T	T	C			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr1:43055041T>C	ENST00000428554.2	+	16	2413	c.1270T>C	c.(1270-1272)Tta>Cta	p.L424L	CCDC30_ENST00000507855.1_Silent_p.L213L|CCDC30_ENST00000390640.4_Silent_p.L213L|CCDC30_ENST00000342022.4_Silent_p.L424L|CCDC30_ENST00000340612.4_Silent_p.L424L			Q5VVM6	CCD30_HUMAN	coiled-coil domain containing 30	424										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	30						AGTGAGAACCTTACAAGATAA	0.358000													7	36					0	0	0.00198382	0	0
PCDHB17P	54661	broad.mit.edu	37	5	140536960	140536960	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr5:140536960C>T	ENST00000539533.1	+	1	1384	c.1384C>T	c.(1384-1386)Cgc>Tgc	p.R462C																								CCTGTTCGTCCGCGAGAACAA	0.617000													5	55					0	0	0.000602214	0	0
IFI16	3428	broad.mit.edu	37	1	158988354	158988354	+	Silent	SNP	C	C	T	rs149200088		TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr1:158988354C>T	ENST00000295809.7	+	5	1140	c.885C>T	c.(883-885)atC>atT	p.I295I	IFI16_ENST00000368131.4_Silent_p.I295I|IFI16_ENST00000368132.3_Silent_p.I295I|IFI16_ENST00000448393.2_Silent_p.I295I|IFI16_ENST00000359709.3_Silent_p.I239I|IFI16_ENST00000340979.6_Silent_p.I295I|IFI16_ENST00000430894.2_Silent_p.I243I			Q16666	IF16_HUMAN	interferon, gamma-inducible protein 16	295	HIN-200 1.				cell proliferation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|monocyte differentiation|negative regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	cytoplasm|nuclear speck|nucleolus	double-stranded DNA binding|protein binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0429)					ATAAAATCATCAACAGAGCAA	0.353000													14	36					0	0	0.00244969	0	0
FTSJ3	117246	broad.mit.edu	37	17	61901534	61901534	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr17:61901534G>A	ENST00000427159.2	-	12	1709	c.1064C>T	c.(1063-1065)cCc>cTc	p.P355L		NM_017647.3	NP_060117.3	Q8IY81	RRMJ3_HUMAN	FtsJ homolog 3 (E. coli)	355					RNA methylation|rRNA processing	nucleolus	methyltransferase activity|nucleic acid binding			breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						ctcctTAGAGGGCTGCTTTGT	0.527000													19	81					0	0	0.00188189	0	0
OR8H2	390151	broad.mit.edu	37	11	55872953	55872953	+	Silent	SNP	C	C	T			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr11:55872953C>T	ENST00000313503.1	+	1	435	c.435C>T	c.(433-435)atC>atT	p.I145I		NM_001005200.1	NP_001005200.1	Q8N162	OR8H2_HUMAN	olfactory receptor, family 8, subfamily H, member 2	145					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					TCGCTCTCATCACTGGGCCTT	0.448000										HNSCC(53;0.14)			8	81					0	0	0.00307968	0	0
UTRN	7402	broad.mit.edu	37	6	144811240	144811240	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr6:144811240A>G	ENST00000367545.3	+	30	4168	c.4168A>G	c.(4168-4170)Acc>Gcc	p.T1390A		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	1390	Interaction with SYNM.				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		CCATGAGCTAACCCTAGAGGA	0.433000													23	60					0	0	0.00278032	0	0
KCTD3	51133	broad.mit.edu	37	1	215777580	215777580	+	Silent	SNP	G	G	A			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr1:215777580G>A	ENST00000259154.4	+	13	1539	c.1245G>A	c.(1243-1245)caG>caA	p.Q415Q		NM_016121.3	NP_057205.2	Q9Y597	KCTD3_HUMAN	potassium channel tetramerization domain containing 3	415						voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			breast(4)|endometrium(2)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)	33				all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13)		AGCTTTTTCAGACTTTCACAG	0.448000													27	46					0	0	0.00106085	0	0
UNC13A	23025	broad.mit.edu	37	19	17729741	17729741	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr19:17729741C>T	ENST00000428389.2	-	40	4566	c.4567G>A	c.(4567-4569)Gag>Aag	p.E1523K	UNC13A_ENST00000252773.7_Missense_Mutation_p.E1435K|UNC13A_ENST00000519716.2_Missense_Mutation_p.E1435K|UNC13A_ENST00000551649.1_Missense_Mutation_p.E1435K|UNC13A_ENST00000550896.1_Missense_Mutation_p.E1408K|UNC13A_ENST00000552293.1_Missense_Mutation_p.E1410K			Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	1435					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						TGACCCAGCTCCTTGGCTGCA	0.567000													17	45					0	0	0.00188189	0	0
CD163	9332	broad.mit.edu	37	12	7649678	7649678	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr12:7649678C>T	ENST00000359156.4	-	5	1032	c.830G>A	c.(829-831)gGa>gAa	p.G277E	CD163_ENST00000541972.1_Missense_Mutation_p.G265E|CD163_ENST00000432237.2_Missense_Mutation_p.G277E|CD163_ENST00000396620.3_Missense_Mutation_p.G277E	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	277	SRCR 3.				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						TTCTAATCTTCCTGAACATTC	0.488000													9	62					0	0	0.000673444	0	0
TYRP1	7306	broad.mit.edu	37	9	12695539	12695539	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr9:12695539G>A	ENST00000388918.5	+	3	539	c.410G>A	c.(409-411)aGt>aAt	p.S137N	TYRP1_ENST00000381137.2_5'UTR	NM_000550.2	NP_000541.1	P17643	TYRP1_HUMAN	tyrosinase-related protein 1	137					melanin biosynthetic process	clathrin-coated endocytic vesicle membrane|endosome membrane|integral to membrane|melanosome membrane	copper ion binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, another compound as one donor, and incorporation of one atom of oxygen|protein heterodimerization activity|protein homodimerization activity			NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|stomach(1)	22		all_cancers(3;3.1e-05)|all_lung(3;1.7e-06)|Lung NSC(3;2.09e-06)|all_epithelial(3;0.000695)|all_hematologic(3;0.0033)|Acute lymphoblastic leukemia(23;0.0744)		GBM - Glioblastoma multiforme(50;9.85e-06)		CTGGACTTAAGTAAAGAAGAA	0.428000									Oculocutaneous Albinism				5	29					0	0	0.00307968	0	0
RPA1	6117	broad.mit.edu	37	17	1787173	1787173	+	Missense_Mutation	SNP	G	G	A	rs142406311	byFrequency	TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr17:1787173G>A	ENST00000254719.5	+	13	1419	c.1309G>A	c.(1309-1311)Ggg>Agg	p.G437R		NM_002945.3	NP_002936.1	P27694	RFA1_HUMAN	replication protein A1, 70kDa	437					cell cycle checkpoint|DNA recombinase assembly|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	actin cytoskeleton|cytoplasm|DNA replication factor A complex|PML body	metal ion binding|protein binding|single-stranded DNA binding	p.G437W(1)		breast(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(2)	10						CGGAGTCGGAGGGAGTAACAC	0.507000								Nucleotide excision repair (NER)					9	68					0	0	0.000274275	0	0
RAG2	5897	broad.mit.edu	37	11	36614379	36614379	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr11:36614379G>A	ENST00000311485.3	-	2	1501	c.1340C>T	c.(1339-1341)tCt>tTt	p.S447F		NM_000536.3|NM_001243785.1|NM_001243786.1	NP_000527.2|NP_001230714.1|NP_001230715.1	P55895	RAG2_HUMAN	recombination activating gene 2	447					chromatin modification|pre-B cell allelic exclusion|somatic diversification of immunoglobulins|T cell differentiation in thymus|V(D)J recombination	nucleus	chromatin binding|DNA binding|endonuclease activity|methylated histone residue binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	32	all_lung(20;0.226)	all_hematologic(20;0.00756)				ATCCCCATGAGAGCAGTAGAT	0.493000									Familial Hemophagocytic Lymphohistiocytosis				7	30					0	0	0.000274275	0	0
NANOGP1	404635	broad.mit.edu	37	12	8051451	8051451	+	RNA	SNP	G	G	A			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr12:8051451G>A	ENST00000607111.1	+	0	671																				kidney(1)|lung(4)|prostate(1)	6						CACAAACCATGGATTTATTCC	0.443000													20	127					0	0	0.00152264	0	0
BRMS1	25855	broad.mit.edu	37	11	66109081	66109081	+	Silent	SNP	C	C	T			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr11:66109081C>T	ENST00000359957.3	-	3	313	c.153G>A	c.(151-153)gaG>gaA	p.E51E	BRMS1_ENST00000425825.2_Silent_p.E51E	NM_015399.3	NP_056214.1	Q9HCU9	BRMS1_HUMAN	breast cancer metastasis suppressor 1	51					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						GCTCATAGTCCTCATCATCCA	0.577000													9	79					0	0	0.000673444	0	0
C2CD4A	145741	broad.mit.edu	37	15	62359840	62359840	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr15:62359840G>A	ENST00000355522.5	+	2	169	c.28G>A	c.(28-30)Ggt>Agt	p.G10S		NM_207322.2	NP_997205.2	Q8NCU7	C2C4A_HUMAN	C2 calcium-dependent domain containing 4A	10						nucleus											ACTCCGCTTGGGTCCTGAGTG	0.652000													4	10					0	0	0.00024832	0	0
CLPB	81570	broad.mit.edu	37	11	72040825	72040825	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr11:72040825C>T	ENST00000294053.3	-	7	1062	c.889G>A	c.(889-891)Gaa>Aaa	p.E297K	CLPB_ENST00000543042.1_Missense_Mutation_p.E96K|CLPB_ENST00000437826.2_Missense_Mutation_p.E252K|CLPB_ENST00000340729.5_Missense_Mutation_p.E238K|CLPB_ENST00000538039.1_Missense_Mutation_p.E267K	NM_001258394.1|NM_030813.4	NP_001245323.1|NP_110440.1	Q9H078	CLPB_HUMAN	ClpB caseinolytic peptidase B homolog (E. coli)	297					cellular response to heat		ATP binding|nucleoside-triphosphatase activity|protein binding			endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	19						TGTCCCATTTCATTCCTCTGC	0.532000													19	172					0	0	0.000958276	0	0
TLR3	7098	broad.mit.edu	37	4	187004921	187004921	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr4:187004921C>T	ENST00000296795.2	+	4	2185	c.2081C>T	c.(2080-2082)tCa>tTa	p.S694L	TLR3_ENST00000504367.1_Missense_Mutation_p.S417L	NM_003265.2	NP_003256.1	O15455	TLR3_HUMAN	toll-like receptor 3	694	LRRCT.				activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|defense response to bacterium|defense response to virus|detection of virus|hyperosmotic response|I-kappaB phosphorylation|inflammatory response|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of osteoclast differentiation|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 3 signaling pathway	endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane	double-stranded RNA binding|transmembrane receptor activity			breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)		TTTGATACATCATCTTGCAAA	0.423000													25	124					0	0	0.00106085	0	0
GABRA6	2559	broad.mit.edu	37	5	161117246	161117246	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr5:161117246G>A	ENST00000523217.1	+	7	925	c.683G>A	c.(682-684)aGg>aAg	p.R228K	GABRA6_ENST00000274545.5_Missense_Mutation_p.R238K	NM_000811.2	NP_000802.2	Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6	238					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	CACTTGCAAAGGAAGATGGGC	0.398000										TCGA Ovarian(5;0.080)			6	48					0	0	0.00198382	0	0
ZNF354C	30832	broad.mit.edu	37	5	178506357	178506357	+	Silent	SNP	C	C	T			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr5:178506357C>T	ENST00000315475.6	+	5	1230	c.924C>T	c.(922-924)gcC>gcT	p.A308A		NM_014594.1	NP_055409.1	Q86Y25	Z354C_HUMAN	zinc finger protein 354C	308					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|urinary_tract(3)	30	all_cancers(89;0.00065)|all_epithelial(37;0.000153)|Renal(175;0.000159)|Lung NSC(126;0.00175)|all_lung(126;0.00309)	all_cancers(40;0.19)|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)	all cancers(165;0.247)		GTGGTAAAGCCTTTAGCCAGT	0.428000													14	81					0	0	0.00400662	0	0
KIAA1324	57535	broad.mit.edu	37	1	109731788	109731788	+	Silent	SNP	G	G	A			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr1:109731788G>A	ENST00000369939.3	+	10	1503	c.1320G>A	c.(1318-1320)ggG>ggA	p.G440G	KIAA1324_ENST00000529753.1_Silent_p.G353G|KIAA1324_ENST00000369938.1_3'UTR	NM_020775.4	NP_065826.2	Q6UXG2	K1324_HUMAN	KIAA1324	440					macroautophagy|positive regulation of vacuole organization|regulation of apoptosis	integral to plasma membrane				NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063)		Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249)		TTCTCAGTGGGATCAACTTCG	0.522000													10	30					0	0	0.000442599	0	0
FAM186B	84070	broad.mit.edu	37	12	49982310	49982310	+	Missense_Mutation	SNP	G	G	A	rs149783745	by1000genomes	TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr12:49982310G>A	ENST00000544141.1	-	6	2790	c.2191C>T	c.(2191-2193)Cgc>Tgc	p.R731C	FAM186B_ENST00000257894.2_Missense_Mutation_p.R821C|FAM186B_ENST00000551047.1_Intron			Q8IYM0	F186B_HUMAN	family with sequence similarity 186, member B	821						protein complex				breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						CCACTGGGGCGGATGTGCCGG	0.617000													11	69					0	0	0.000978159	0	0
VARS	7407	broad.mit.edu	37	6	31760052	31760052	+	Silent	SNP	C	C	T			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr6:31760052C>T	ENST00000375663.3	-	6	1253	c.813G>A	c.(811-813)gaG>gaA	p.E271E	VARS_ENST00000444930.2_5'UTR	NM_006295.2	NP_006286.1	P26640	SYVC_HUMAN	valyl-tRNA synthetase	271					translational elongation|valyl-tRNA aminoacylation	cytosol	ATP binding|protein binding|valine-tRNA ligase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	30					L-Valine(DB00161)	GATCCCGTTTCTCCCTCTTCT	0.562000													28	144					0	0	0.00428921	0	0
TTN	7273	broad.mit.edu	37	2	179589042	179589042	+	Silent	SNP	G	G	A			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr2:179589042G>A	ENST00000589042.1	-	72	21284	c.21060C>T	c.(21058-21060)ttC>ttT	p.F7020F	RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Silent_p.F5776F|TTN_ENST00000591111.1_Silent_p.F6703F|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	6703	Ig-like 52.						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)			TTTGAACCTGGAAAGTGTATG	0.398000													17	27					0	0	0.00152264	0	0
TMCO4	255104	broad.mit.edu	37	1	20066390	20066390	+	Missense_Mutation	SNP	G	G	A	rs145902797		TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr1:20066390G>A	ENST00000294543.6	-	12	1347	c.1106C>T	c.(1105-1107)cCc>cTc	p.P369L	TMCO4_ENST00000375127.1_Missense_Mutation_p.P369L|TMCO4_ENST00000375122.2_Missense_Mutation_p.P329L	NM_181719.4	NP_859070.3	Q5TGY1	TMCO4_HUMAN	transmembrane and coiled-coil domains 4	369						integral to membrane				biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00708)|COAD - Colon adenocarcinoma(152;2.28e-05)|BRCA - Breast invasive adenocarcinoma(304;5.8e-05)|Kidney(64;0.000367)|GBM - Glioblastoma multiforme(114;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00459)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0862)|Lung(427;0.223)		CACCCCCCAGGGGTTGTCGAT	0.617000													5	36					0	0	0.00198382	0	0
TMCC3	57458	broad.mit.edu	37	12	94965246	94965246	+	Silent	SNP	G	G	A			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr12:94965246G>A	ENST00000261226.4	-	4	1530	c.1399C>T	c.(1399-1401)Ctg>Ttg	p.L467L	TMCC3_ENST00000551457.1_Silent_p.L436L	NM_020698.2	NP_065749.2	Q9ULS5	TMCC3_HUMAN	transmembrane and coiled-coil domain family 3	467						integral to membrane				NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	29						ATGGCACACAGGATATGGTCC	0.408000													6	31					0	0	0.00116845	0	0
ZNF830	91603	broad.mit.edu	37	17	33289448	33289448	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr17:33289448C>T	ENST00000361952.3	+	1	900	c.863C>T	c.(862-864)tCc>tTc	p.S288F		NM_052857.3	NP_443089.3	Q96NB3	ZN830_HUMAN	zinc finger protein 830	288					cell division|mitosis	cytoplasm|nucleus	metal ion binding			breast(1)|cervix(1)|endometrium(2)|large_intestine(1)|liver(2)|lung(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		Ovarian(249;0.17)				AACACTATTTCCGAAGCCATA	0.498000													6	48					0	0	0.00116845	0	0
SSTR1	6751	broad.mit.edu	37	14	38679446	38679446	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr14:38679446G>A	ENST00000267377.2	+	3	1469	c.852G>A	c.(850-852)tgG>tgA	p.W284*		NM_001049.2	NP_001040.1	P30872	SSR1_HUMAN	somatostatin receptor 1	284					digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation|response to nutrient	integral to plasma membrane	somatostatin receptor activity			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00444)	Octreotide(DB00104)	TCATCTGCTGGATGCCTTTCT	0.592000													4	26					0	0	0.000602214	0	0
HMOX1	3162	broad.mit.edu	37	22	35789528	35789528	+	Silent	SNP	C	C	T			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr22:35789528C>T	ENST00000216117.8	+	5	1143	c.804C>T	c.(802-804)ctC>ctT	p.L268L		NM_002133.2	NP_002124.1	P09601	HMOX1_HUMAN	heme oxygenase (decycling) 1	268					angiogenesis|anti-apoptosis|cell death|cellular iron ion homeostasis|endothelial cell proliferation|erythrocyte homeostasis|heme catabolic process|heme oxidation|intracellular protein kinase cascade|low-density lipoprotein particle clearance|negative regulation of leukocyte migration|negative regulation of smooth muscle cell proliferation|positive regulation of chemokine biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of smooth muscle cell proliferation|protein homooligomerization|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|response to hydrogen peroxide|response to nicotine|smooth muscle hyperplasia|transmembrane transport|wound healing involved in inflammatory response	endoplasmic reticulum membrane|extracellular space|microsome	enzyme binding|heme binding|heme oxygenase (decyclizing) activity|protein homodimerization activity|signal transducer activity			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	16					NADH(DB00157)	CTCCGCTTCTCCGATGGGTCC	0.562000													14	72					0	0	0.00185496	0	0
TRMT10B	158234	broad.mit.edu	37	9	37777689	37777689	+	Silent	SNP	G	G	A			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr9:37777689G>A	ENST00000297994.3	+	9	1001	c.936G>A	c.(934-936)cgG>cgA	p.R312R	RP11-613M10.9_ENST00000540557.1_Intron|TRMT10B_ENST00000377754.2_Silent_p.R217R|TRMT10B_ENST00000537911.1_Silent_p.R252R|TRMT10B_ENST00000377753.2_Silent_p.R225R	NM_144964.2	NP_659401.2			tRNA methyltransferase 10 homolog B (S. cerevisiae)																		ATATTCTTCGGAACTCAGTGG	0.483000													6	34					0	0	0.00198382	0	0
GAA	2548	broad.mit.edu	37	17	78084624	78084624	+	Silent	SNP	C	C	T	rs143491365		TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr17:78084624C>T	ENST00000302262.3	+	10	1755	c.1536C>T	c.(1534-1536)ttC>ttT	p.F512F	GAA_ENST00000390015.3_Silent_p.F512F	NM_000152.3	NP_000143.2	P10253	LYAG_HUMAN	glucosidase, alpha; acid	512					cardiac muscle contraction|diaphragm contraction|glycogen catabolic process|lysosome organization|tongue morphogenesis|vacuolar sequestering|ventricular cardiac muscle tissue morphogenesis	lysosomal membrane	carbohydrate binding|maltose alpha-glucosidase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		Acarbose(DB00284)	AGGTGCCCTTCGACGGCATGT	0.632000													4	18					0	0	0.000602214	0	0
HLA-DOB	3112	broad.mit.edu	37	6	32783046	32783046	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr6:32783046C>A	ENST00000438763.2	-	2	232	c.136G>T	c.(136-138)Ggg>Tgg	p.G46W	TAP2_ENST00000452392.2_Intron	NM_002120.3	NP_002111.1			major histocompatibility complex, class II, DO beta									p.G46W(1)		endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	9						TTTTCTGTCCCGTTGGTGAAG	0.463000													5	88					0.00116845	0.00547925	0.00116845	1	0
MRO	83876	broad.mit.edu	37	18	48333145	48333145	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr18:48333145C>T	ENST00000428869.2	-	5	433	c.175G>A	c.(175-177)Gac>Aac	p.D59N	MRO_ENST00000431965.2_Missense_Mutation_p.D73N|MRO_ENST00000256425.2_Missense_Mutation_p.D59N|MRO_ENST00000587291.1_Intron|MRO_ENST00000588444.1_Missense_Mutation_p.D59N|MRO_ENST00000436348.2_Missense_Mutation_p.D73N|MRO_ENST00000398439.3_Missense_Mutation_p.D59N			Q9BYG7	MSTRO_HUMAN	maestro	59						nucleolus	binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)|skin(2)	10		Colorectal(6;0.0596)		Colorectal(21;0.082)		GCACTGGGGTCCCGAGCTCTT	0.512000													25	76					0	0	0.00395357	0	0
C2CD4A	145741	broad.mit.edu	37	15	62359841	62359841	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr15:62359841G>A	ENST00000355522.5	+	2	170	c.29G>A	c.(28-30)gGt>gAt	p.G10D		NM_207322.2	NP_997205.2	Q8NCU7	C2C4A_HUMAN	C2 calcium-dependent domain containing 4A	10						nucleus											CTCCGCTTGGGTCCTGAGTGC	0.657000													4	10					0	0	0.00024832	0	0
GABRR3	200959	broad.mit.edu	37	3	97744447	97744447	+	RNA	SNP	C	C	T			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr3:97744447C>T	ENST00000472788.1	-	0	203					NM_001105580.2	NP_001099050.1	A8MPY1	GBRR3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 3						gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			large_intestine(2)|lung(1)	3						TCGTTGTCCTCTATATGGAGA	0.398000													10	38					0	0	0.000673444	0	0
NCAPD2	9918	broad.mit.edu	37	12	6624077	6624077	+	Silent	SNP	G	G	A			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr12:6624077G>A	ENST00000315579.5	+	9	1777	c.978G>A	c.(976-978)ctG>ctA	p.L326L	NCAPD2_ENST00000545962.1_Silent_p.L281L	NM_014865.3	NP_055680.3	Q15021	CND1_HUMAN	non-SMC condensin I complex, subunit D2	326	Interactions with SMC2 and SMC4.				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						TAGATCACCTGGATGGAGAAG	0.473000													11	44					0	0	0.000978159	0	0
C7orf26	79034	broad.mit.edu	37	7	6634067	6634067	+	Splice_Site	SNP	G	G	T			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr7:6634067G>T	ENST00000344417.5	+	3	683	c.414_splice	c.e3-1	p.R139_splice	C7orf26_ENST00000359073.5_Splice_Site_p.R120_splice|C7orf26_ENST00000472693.1_3'UTR	NM_024067.2	NP_076972.2	Q96N11	CG026_HUMAN	chromosome 7 open reading frame 26	139										endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	11		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)		TCTTTCCAGCGGACGCCCGTG	0.512000													5	158					0.00198382	0.00924809	0.00198382	1	0
PRAME	23532	broad.mit.edu	37	22	22892369	22892369	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr22:22892369C>T	ENST00000543184.1	-	4	1594	c.732G>A	c.(730-732)tgG>tgA	p.W244*	PRAME_ENST00000405655.3_Nonsense_Mutation_p.W244*|PRAME_ENST00000424204.2_Nonsense_Mutation_p.W228*|PRAME_ENST00000398741.1_Nonsense_Mutation_p.W244*|PRAME_ENST00000402697.1_Nonsense_Mutation_p.W244*|PRAME_ENST00000398743.2_Nonsense_Mutation_p.W244*|PRAME_ENST00000539862.1_Nonsense_Mutation_p.W228*	NM_206953.1	NP_996836.1	P78395	PRAME_HUMAN	preferentially expressed antigen in melanoma	244					apoptosis|cell differentiation|negative regulation of apoptosis|negative regulation of cell differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|regulation of growth|transcription, DNA-dependent	nucleus|plasma membrane	retinoic acid receptor binding			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)|all_lung(157;4.03e-05)		READ - Rectum adenocarcinoma(21;0.0649)		TGGGTAGCTTCCAGGTACAAG	0.458000													6	37					0	0	0.00116845	0	0
TEX15	56154	broad.mit.edu	37	8	30703356	30703356	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr8:30703356T>C	ENST00000256246.2	-	1	3252	c.3178A>G	c.(3178-3180)Act>Gct	p.T1060A		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	1060										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)		AAATGCTTAGTAGAATAATAT	0.328000													15	43					0	0	0.00316338	0	0
PTPRB	5787	broad.mit.edu	37	12	70960365	70960365	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr12:70960365T>A	ENST00000334414.6	-	15	3798	c.3754A>T	c.(3754-3756)Aat>Tat	p.N1252Y	PTPRB_ENST00000538708.1_Intron|PTPRB_ENST00000261266.5_Missense_Mutation_p.N1034Y|PTPRB_ENST00000451516.2_Missense_Mutation_p.N944Y|PTPRB_ENST00000551525.1_Missense_Mutation_p.N1251Y|PTPRB_ENST00000550857.1_Missense_Mutation_p.N944Y|PTPRB_ENST00000550358.1_Missense_Mutation_p.N1164Y	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1034	Fibronectin type-III 14.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			AGGATTCCATTTTCAGTTAGA	0.403000													14	66					0	0	0.000566183	0	0
PDE10A	10846	broad.mit.edu	37	6	165827142	165827142	+	Silent	SNP	C	C	T			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr6:165827142C>T	ENST00000366882.1	-	14	1249	c.1095G>A	c.(1093-1095)cgG>cgA	p.R365R	PDE10A_ENST00000354448.4_Silent_p.R365R|PDE10A_ENST00000539869.2_Silent_p.R375R			Q9Y233	PDE10_HUMAN	phosphodiesterase 10A	365	GAF 2.				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding			breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Dipyridamole(DB00975)	ACAGGATGTTCCGCGTGGTGT	0.473000													7	23					0	0	0.00198382	0	0
RERG	85004	broad.mit.edu	37	12	15262345	15262345	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr12:15262345T>C	ENST00000256953.2	-	5	635	c.299A>G	c.(298-300)aAc>aGc	p.N100S	RERG_ENST00000536465.1_Missense_Mutation_p.N100S|RERG_ENST00000546331.1_Missense_Mutation_p.N81S|RERG_ENST00000538313.1_Missense_Mutation_p.N100S	NM_032918.2	NP_116307.1	Q96A58	RERG_HUMAN	RAS-like, estrogen-regulated, growth inhibitor	100					negative regulation of cell growth|negative regulation of cell proliferation|response to hormone stimulus|small GTPase mediated signal transduction	cytosol|membrane|nucleus	estrogen receptor binding|GDP binding|GTP binding|GTPase activity			NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16						ATCTAGGATGTTCTTAAGTGG	0.493000													31	157					0	0	0.00209593	0	0
CNTN6	27255	broad.mit.edu	37	3	1444027	1444027	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr3:1444027G>C	ENST00000446702.2	+	22	3470	c.2843G>C	c.(2842-2844)aGt>aCt	p.S948T	CNTN6_ENST00000539053.1_Missense_Mutation_p.S876T|CNTN6_ENST00000350110.2_Missense_Mutation_p.S948T			Q9UQ52	CNTN6_HUMAN	contactin 6	948	Fibronectin type-III 4.				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		AACAGACAGAGTAAAACTCAT	0.368000													8	31					0	0	0.000442599	0	0
GRM3	2913	broad.mit.edu	37	7	86416341	86416341	+	Silent	SNP	C	C	T			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr7:86416341C>T	ENST00000361669.2	+	3	2332	c.1233C>T	c.(1231-1233)ctC>ctT	p.L411L	GRM3_ENST00000546348.1_Intron|GRM3_ENST00000394720.2_Silent_p.L409L|GRM3_ENST00000536043.1_Silent_p.L283L|GRM3_ENST00000439827.1_Silent_p.L411L	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	411					synaptic transmission	integral to plasma membrane				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	AGCGCACCCTCTGTCCCAACA	0.488000													35	96					0	0	0.000953801	0	0
CLEC4D	338339	broad.mit.edu	37	12	8673736	8673736	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr12:8673736G>A	ENST00000299665.2	+	6	710	c.517G>A	c.(517-519)Gaa>Aaa	p.E173K		NM_080387.4	NP_525126.2	Q8WXI8	CLC4D_HUMAN	C-type lectin domain family 4, member D	173	C-type lectin.				innate immune response	integral to membrane	sugar binding			large_intestine(4)|lung(6)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Lung SC(5;0.184)					GCATAAGAATGAACCCGACAA	0.333000													6	52					0	0	0.00198382	0	0
PCDHGA9	56107	broad.mit.edu	37	5	140784278	140784278	+	Silent	SNP	C	C	T			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr5:140784278C>T	ENST00000573521.1	+	1	1759	c.1759C>T	c.(1759-1761)Ctg>Ttg	p.L587L	PCDHGB2_ENST00000522605.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018921.2|NM_032089.1	NP_061744.1|NP_114478.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCTGGCTACCTGGTGACCAA	0.602000													7	61					0	0	0.000673444	0	0
CYP3A5	1577	broad.mit.edu	37	7	99273788	99273788	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr7:99273788G>A	ENST00000343703.5	-	3	471	c.85C>T	c.(85-87)Cca>Tca	p.P29S	CYP3A5_ENST00000480723.1_5'UTR|CYP3A5_ENST00000222982.4_Missense_Mutation_p.P39S|CYP3A5_ENST00000439761.1_Missense_Mutation_p.P39S|CYP3A5_ENST00000339843.2_3'UTR					cytochrome P450, family 3, subfamily A, polypeptide 5											NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_epithelial(64;2.77e-08)|Lung NSC(181;0.00396)|all_lung(186;0.00659)|Esophageal squamous(72;0.0166)					GTGGGCCCTGGAATTCCCAGT	0.453000													14	40					0	0	0.000958276	0	0
AGO4	192670	broad.mit.edu	37	1	36307284	36307284	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr1:36307284G>A	ENST00000373210.3	+	15	2353	c.2108G>A	c.(2107-2109)gGa>gAa	p.G703E	AGO4_ENST00000488778.1_3'UTR	NM_017629.3	NP_060099.2			argonaute RISC catalytic component 4																		TACCGGCCAGGAATAACTTAT	0.358000													10	62					0	0	0.000673444	0	0
MECOM	2122	broad.mit.edu	37	3	169099072	169099072	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr3:169099072C>T	ENST00000494292.1	-	2	375	c.278G>A	c.(277-279)gGa>gAa	p.G93E	MECOM_ENST00000485957.1_5'UTR	NM_004991.3	NP_004982.2	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	93							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						GGTCCATATTCCTAGTCCTGC	0.483000													19	74					0	0	0.000958276	0	0
JRK	8629	broad.mit.edu	37	8	143747283	143747283	+	RNA	SNP	G	G	A			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr8:143747283G>A	ENST00000507178.2	-	0	527									jerky homolog (mouse)													all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;2.31e-05)				agctggcgaagaaccggagca	0.642000													6	12					0	0	0.00198382	0	0
SLC35F3	148641	broad.mit.edu	37	1	234452465	234452465	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr1:234452465C>T	ENST00000366618.3	+	5	1091	c.946C>T	c.(946-948)Ctc>Ttc	p.L316F	SLC35F3_ENST00000366617.3_Missense_Mutation_p.L247F	NM_173508.2	NP_775779.1	Q8IY50	S35F3_HUMAN	solute carrier family 35, member F3	247					transport	integral to membrane				breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|urinary_tract(1)	32	Ovarian(103;0.0454)	all_cancers(173;0.145)|Prostate(94;0.0885)	OV - Ovarian serous cystadenocarcinoma(106;0.00531)			GATGTCTGCCCTCTACAAGGT	0.577000													8	58					0	0	0.000274275	0	0
GNB3	2784	broad.mit.edu	37	12	6953123	6953123	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr12:6953123C>G	ENST00000229264.3	+	9	1085	c.680C>G	c.(679-681)tCg>tGg	p.S227W	GNB3_ENST00000435982.2_Missense_Mutation_p.S226W	NM_002075.2	NP_002066.1	P16520	GBB3_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 3	227					cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of blood pressure|synaptic transmission	plasma membrane	GTPase activity|GTPase binding|signal transducer activity			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|stomach(1)	20						GGCCACGAGTCGGACATCAAC	0.577000													5	24					0	0	0.000602214	0	0
MUC16	94025	broad.mit.edu	37	19	9084753	9084753	+	Silent	SNP	G	G	A			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr19:9084753G>A	ENST00000397910.4	-	1	7265	c.7062C>T	c.(7060-7062)atC>atT	p.I2354I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2354	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTGCGTCAAGGATATCTGAGG	0.438000													6	22					0	0	0.00116845	0	0
BFAR	51283	broad.mit.edu	37	16	14761504	14761504	+	Silent	SNP	G	G	A			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr16:14761504G>A	ENST00000261658.2	+	8	1450	c.1173G>A	c.(1171-1173)caG>caA	p.Q391Q	BFAR_ENST00000426842.2_Silent_p.Q263Q|BFAR_ENST00000563082.1_3'UTR|BFAR_ENST00000563971.1_Silent_p.Q266Q	NM_016561.2	NP_057645.1	Q9NZS9	BFAR_HUMAN	bifunctional apoptosis regulator	391					anti-apoptosis|apoptosis	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction	structural molecule activity|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)	11						CCGTGCCTCAGAGGATGTGGA	0.537000													11	75					0	0	0.00185496	0	0
CILP	8483	broad.mit.edu	37	15	65490910	65490910	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr15:65490910G>A	ENST00000261883.4	-	9	1880	c.1714C>T	c.(1714-1716)Cgt>Tgt	p.R572C		NM_003613.3	NP_003604.3	O75339	CILP1_HUMAN	cartilage intermediate layer protein, nucleotide pyrophosphohydrolase	572					negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						TTTTTCCGACGAAGCATCTTG	0.507000													7	32					0	0	0.00307968	0	0
OR4C12	283093	broad.mit.edu	37	11	50004008	50004008	+	Silent	SNP	G	G	A			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr11:50004008G>A	ENST00000335238.4	-	1	63	c.30C>T	c.(28-30)ttC>ttT	p.F10F		NM_001005270.2	NP_001005270.1	Q96R67	OR4CC_HUMAN	olfactory receptor, family 4, subfamily C, member 12	10					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						CTATTAAAATGAATTCAGTCA	0.343000													6	25					0	0	0.00198382	0	0
KDM7A	80853	broad.mit.edu	37	7	139833371	139833371	+	Silent	SNP	G	G	A			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr7:139833371G>A	ENST00000397560.2	-	3	463	c.366C>T	c.(364-366)ttC>ttT	p.F122F	JHDM1D_ENST00000006967.5_Silent_p.F122F	NM_030647.1	NP_085150.1	Q6ZMT4	KDM7_HUMAN		122					midbrain development|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)	22	Melanoma(164;0.0142)					ATTCCTTAATGAAAGTTCTAG	0.373000													15	36					0	0	0.00244969	0	0
CNTN6	27255	broad.mit.edu	37	3	1445017	1445017	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr3:1445017G>A	ENST00000446702.2	+	23	3629	c.3002G>A	c.(3001-3003)gGa>gAa	p.G1001E	CNTN6_ENST00000539053.1_Missense_Mutation_p.G929E|CNTN6_ENST00000350110.2_Missense_Mutation_p.G1001E			Q9UQ52	CNTN6_HUMAN	contactin 6	1001					axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		AGTTCCAGAGGAATTCAATTC	0.299000													4	47					0	0	0.000602214	0	0
SLC27A6	28965	broad.mit.edu	37	5	128302184	128302184	+	Silent	SNP	C	C	T			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr5:128302184C>T	ENST00000262462.4	+	1	1364	c.354C>T	c.(352-354)ttC>ttT	p.F118F	SLC27A6_ENST00000506176.1_Silent_p.F118F|SLC27A6_ENST00000395266.1_Silent_p.F118F			Q9Y2P4	S27A6_HUMAN	solute carrier family 27 (fatty acid transporter), member 6	118					long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process	integral to membrane|sarcolemma	fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding			NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		AGCCGGACTTCGTTCACGTGT	0.567000													4	14					0	0	0.00024832	0	0
ALKBH4	54784	broad.mit.edu	37	7	102097862	102097862	+	Silent	SNP	G	G	A			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr7:102097862G>A	ENST00000292566.3	-	3	927	c.888C>T	c.(886-888)tcC>tcT	p.S296S		NM_017621.3	NP_060091.1	Q9NXW9	ALKB4_HUMAN	alkB, alkylation repair homolog 4 (E. coli)	296						cytoplasm|nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			kidney(1)|lung(5)|skin(2)	8						TTCCCTGGAAGGAGAGGGCGA	0.632000													6	37					0	0	0.00198382	0	0
DCDC1	341019	broad.mit.edu	37	11	30926522	30926522	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr11:30926522C>T	ENST00000597505.1	-	29	4293	c.4294G>A	c.(4294-4296)Gga>Aga	p.G1432R	DCDC1_ENST00000339794.5_Missense_Mutation_p.G511R|DCDC1_ENST00000406071.2_Missense_Mutation_p.G167R			P59894	DCDC1_HUMAN	doublecortin domain containing 1	193					intracellular signal transduction					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					GGGAATGTTCCAGCCACAATT	0.428000													13	36					0	0	0.00185496	0	0
TRRAP	8295	broad.mit.edu	37	7	98609128	98609128	+	Silent	SNP	C	C	T			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr7:98609128C>T	ENST00000359863.4	+	71	11474	c.11265C>T	c.(11263-11265)gtC>gtT	p.V3755V	TRRAP_ENST00000446306.3_Silent_p.V3744V|TRRAP_ENST00000355540.3_Silent_p.V3726V	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	3755	PI3K/PI4K.				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			TGATTGCGGTCGCCCGGTGCT	0.607000													13	38					0	0	0.00244969	0	0
MRPL28	10573	broad.mit.edu	37	16	418402	418402	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr16:418402G>C	ENST00000199706.8	-	5	624	c.589C>G	c.(589-591)Cca>Gca	p.P197A	MRPL28_ENST00000429738.1_Intron|MRPL28_ENST00000389675.2_Missense_Mutation_p.P197A	NM_006428.4	NP_006419.2	Q13084	RM28_HUMAN	mitochondrial ribosomal protein L28	197					translation	mitochondrial ribosome	protein binding|structural constituent of ribosome			breast(1)|kidney(1)|lung(1)|ovary(1)|prostate(1)	5		Hepatocellular(16;0.000105)|Lung NSC(18;0.0324)|all_lung(18;0.064)				TCCTCCTCTGGGATGGCAAAT	0.622000													11	43					0	0	0.00136819	0	0
E2F2	1870	broad.mit.edu	37	1	23850914	23850914	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr1:23850914C>T	ENST00000361729.2	-	2	745	c.319G>A	c.(319-321)Ggg>Agg	p.G107R		NM_004091.3	NP_004082.1	Q14209	E2F2_HUMAN	E2F transcription factor 2	107					G1 phase of mitotic cell cycle|transcription initiation from RNA polymerase II promoter	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			endometrium(4)|large_intestine(2)|lung(1)|ovary(3)|skin(2)|urinary_tract(1)	13		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.52e-24)|Colorectal(126;6.25e-08)|COAD - Colon adenocarcinoma(152;3.42e-06)|GBM - Glioblastoma multiforme(114;8.98e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00102)|KIRC - Kidney renal clear cell carcinoma(1967;0.00366)|STAD - Stomach adenocarcinoma(196;0.0132)|READ - Rectum adenocarcinoma(331;0.0652)|Lung(427;0.0888)|LUSC - Lung squamous cell carcinoma(448;0.19)		ATGCACTTCCCCTTGGGGGTT	0.627000													8	15					0	0	0.000274275	0	0
PRH1	5554	broad.mit.edu	37	12	11035670	11035670	+	Silent	SNP	G	G	A			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr12:11035670G>A	ENST00000428168.2	-	2	127	c.90C>T	c.(88-90)ctC>ctT	p.L30L	PRR4_ENST00000536668.1_5'UTR	NM_006250.3	NP_006241.2	P02810	PRPC_HUMAN	proline-rich protein HaeIII subfamily 1	30	Inhibits hydroxyapatite formation, binds to hydroxyapatite and calcium.					extracellular space	protein binding			endometrium(1)|kidney(1)|lung(2)|upper_aerodigestive_tract(1)	5				BRCA - Breast invasive adenocarcinoma(232;0.245)		CTGATATTACGAGGGGAACAT	0.383000													7	29					0	0	0.00307968	0	0
MAN2A2	4122	broad.mit.edu	37	15	91448665	91448665	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr15:91448665C>T	ENST00000360468.3	+	2	335	c.317C>T	c.(316-318)cCc>cTc	p.P106L	MAN2A2_ENST00000559717.1_Missense_Mutation_p.P106L	NM_006122.2	NP_006113.2	P49641	MA2A2_HUMAN	mannosidase, alpha, class 2A, member 2	106					mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			GAGCCCCGGCCCAGCTTCTTC	0.657000													12	130					0	0	0.00136819	0	0
DOPEY2	9980	broad.mit.edu	37	21	37650525	37650525	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr21:37650525C>G	ENST00000399151.3	+	30	5926	c.5841C>G	c.(5839-5841)agC>agG	p.S1947R		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	1947					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						ATGCTCCCAGCTTCCGGGCTG	0.537000													9	32					0	0	0.000442599	0	0
GPR98	84059	broad.mit.edu	37	5	89992796	89992796	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr5:89992796C>T	ENST00000405460.2	+	34	8084	c.7988C>T	c.(7987-7989)tCt>tTt	p.S2663F		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	2663	Calx-beta 18.				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)		TTGGATGACTCTGAACCAGAG	0.368000													5	37					0	0	0.000602214	0	0
C1orf192	257177	broad.mit.edu	37	1	161335340	161335340	+	Silent	SNP	C	C	T			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr1:161335340C>T	ENST00000367974.1	-	4	329	c.324G>A	c.(322-324)ggG>ggA	p.G108G		NM_001013625.2	NP_001013647.2	Q5VTH2	CA192_HUMAN	chromosome 1 open reading frame 192	108										endometrium(1)|large_intestine(3)|lung(5)|prostate(1)	10	all_cancers(52;4.64e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			CAGGACACAGCCCATTGGAGG	0.458000													47	85					0	0	0.00361006	0	0
CSF2RA	1438	broad.mit.edu	37	X	1407689	1407689	+	Silent	SNP	C	C	T			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chrX:1407689C>T	ENST00000381524.3	+	6	567	c.381C>T	c.(379-381)ttC>ttT	p.F127F	CSF2RA_ENST00000417535.2_Silent_p.F127F|CSF2RA_ENST00000355432.3_Silent_p.F127F|CSF2RA_ENST00000381500.1_Silent_p.F127F|CSF2RA_ENST00000432318.2_Silent_p.F127F|CSF2RA_ENST00000501036.2_5'UTR|CSF2RA_ENST00000381529.3_Silent_p.F127F|CSF2RA_ENST00000355805.2_Silent_p.F127F|CSF2RA_ENST00000381509.3_Silent_p.F127F|CSF2RA_ENST00000361536.3_Silent_p.F127F			P15509	CSF2R_HUMAN	colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)	127						extracellular region|integral to plasma membrane	cytokine receptor activity			central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	TCTCCTGTTTCATCTACAATG	0.463000													13	158					0	0	0.00316338	0	0
C6orf222	389384	broad.mit.edu	37	6	36291299	36291299	+	Silent	SNP	G	G	A			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr6:36291299G>A	ENST00000437635.2	-	8	1419	c.1242C>T	c.(1240-1242)gtC>gtT	p.V414V		NM_001010903.4	NP_001010903.3	P0C671	CF222_HUMAN	chromosome 6 open reading frame 222	414										breast(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(4)|urinary_tract(4)	26						CTTCCTGCTGGACTTGAGGTT	0.537000													17	64					0	0	0.000958276	0	0
CYFIP1	23191	broad.mit.edu	37	15	22933600	22933600	+	Silent	SNP	C	C	T			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr15:22933600C>T	ENST00000313077.7	+	7	734	c.609C>T	c.(607-609)tcC>tcT	p.S203S	CYFIP1_ENST00000560848.1_Silent_p.S203S	NM_014608.2	NP_055423.1	Q7L576	CYFP1_HUMAN	cytoplasmic FMR1 interacting protein 1	203					axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization	cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome	actin filament binding|Rac GTPase binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	40		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)		ATCCACAGTCCATCCAGGAAT	0.438000													5	28					0	0	0.00116845	0	0
PNMA1	9240	broad.mit.edu	37	14	74179807	74179807	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr14:74179807G>A	ENST00000316836.3	-	1	1321	c.536C>T	c.(535-537)cCc>cTc	p.P179L		NM_006029.4	NP_006020.4	Q8ND90	PNMA1_HUMAN	paraneoplastic Ma antigen 1	179					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)		ctccagccagggatcaaaggt	0.537000													4	34					0	0	0.00024832	0	0
SHANK1	50944	broad.mit.edu	37	19	51165351	51165351	+	Silent	SNP	G	G	A			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr19:51165351G>A	ENST00000293441.1	-	23	6375	c.6357C>T	c.(6355-6357)ttC>ttT	p.F2119F	SHANK1_ENST00000391814.1_Silent_p.F2127F|SHANK1_ENST00000391813.1_Silent_p.F1506F|SHANK1_ENST00000359082.3_Silent_p.F2110F|SYT3_ENST00000544769.1_Intron	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	2119	SAM.				cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		CGTGGTCCAGGAACTGGGCTC	0.617000													9	29					0	0	0.000673444	0	0
TSHZ2	128553	broad.mit.edu	37	20	51870549	51870549	+	Silent	SNP	G	G	A			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr20:51870549G>A	ENST00000371497.5	+	2	1439	c.552G>A	c.(550-552)cgG>cgA	p.R184R	TSHZ2_ENST00000603338.2_Silent_p.R181R|TSHZ2_ENST00000329613.6_Silent_p.R181R	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	184					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)			TGCCTTCTCGGTCCGTCTCGA	0.557000													9	38					0	0	0.000274275	0	0
COL6A3	1293	broad.mit.edu	37	2	238303716	238303716	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr2:238303716C>T	ENST00000295550.4	-	3	675	c.223G>A	c.(223-225)Gat>Aat	p.D75N	COL6A3_ENST00000472056.1_Intron|COL6A3_ENST00000409809.1_Intron|COL6A3_ENST00000392003.2_Intron|COL6A3_ENST00000346358.4_Missense_Mutation_p.D75N|COL6A3_ENST00000353578.4_Intron|COL6A3_ENST00000347401.3_Missense_Mutation_p.D75N|COL6A3_ENST00000392004.3_Intron	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	75	Nonhelical region.|VWFA 1.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		AAATGGAAATCATTTTCTCCC	0.388000													10	24					0	0	0.000978159	0	0
CCDC88A	55704	broad.mit.edu	37	2	55555445	55555445	+	Silent	SNP	G	G	A			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr2:55555445G>A	ENST00000436346.1	-	17	3823	c.2982C>T	c.(2980-2982)cgC>cgT	p.R994R	CCDC88A_ENST00000336838.6_Silent_p.R993R|CCDC88A_ENST00000413716.2_Silent_p.R993R|CCDC88A_ENST00000263630.8_Silent_p.R994R|AC012358.8_ENST00000600219.1_RNA|AC012358.8_ENST00000599475.1_RNA|AC012358.8_ENST00000599352.1_RNA|AC012358.8_ENST00000594078.1_RNA	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A	994					activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade	cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						TAAGTTCTTGGCGCAATTGCT	0.274000													4	10					0	0	0.00116845	0	0
MYH9	4627	broad.mit.edu	37	22	36702008	36702008	+	Silent	SNP	G	G	A			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr22:36702008G>A	ENST00000216181.5	-	17	2357	c.2127C>T	c.(2125-2127)ccC>ccT	p.P709P		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	709	Myosin head-like.				actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						CCACCCTGTTGGGGAAGCCCT	0.662000			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated				10	64					0	0	0.000673444	0	0
OR2M5	127059	broad.mit.edu	37	1	248308635	248308635	+	Silent	SNP	C	C	T			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr1:248308635C>T	ENST00000366476.1	+	1	186	c.186C>T	c.(184-186)ctC>ctT	p.L62L		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	62					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			TGTACTTCCTCCTCAGTCAAC	0.517000													11	200					0	0	0.00316338	0	0
PCDHA3	56145	broad.mit.edu	37	5	140183169	140183169	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr5:140183169C>T	ENST00000522353.2	+	1	2387	c.2387C>T	c.(2386-2388)tCa>tTa	p.S796L	PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000532566.2_Missense_Mutation_p.S796L|PCDHA2_ENST00000520672.2_Intron	NM_018906.2	NP_061729.1														NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTTGATCTCTCAGCCAAAGTG	0.413000													7	26					0	0	0.00198382	0	0
KRTAP5-4	387267	broad.mit.edu	37	11	1642682	1642682	+	Silent	SNP	G	G	A			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr11:1642682G>A	ENST00000399682.1	-	1	686	c.642C>T	c.(640-642)tcC>tcT	p.S214S		NM_001012709.1	NP_001012727.1	Q6L8H1	KRA54_HUMAN	keratin associated protein 5-4	274	9 X 4 AA repeats of C-C-X-P.					keratin filament				NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2)	20		all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		AACTAGACTGGGAGCAGCAGG	0.572000													7	56					0	0	0.000442599	0	0
LOC284009	284009	broad.mit.edu	37	17	2310519	2310519	+	RNA	SNP	G	G	A			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr17:2310519G>A	ENST00000571332.1	-	0	980					NR_028335.1																						ACGATGTCAGGGATTCCTTTA	0.527000													3	9					0	0	0.00024832	0	0
PSG2	5670	broad.mit.edu	37	19	43585056	43585056	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr19:43585056C>T	ENST00000406487.1	-	2	505	c.407G>A	c.(406-408)gGa>gAa	p.G136E		NM_031246.3	NP_112536.2	P11465	PSG2_HUMAN	pregnancy specific beta-1-glycoprotein 2	136	Ig-like V-type.				cell migration|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2)	49		Prostate(69;0.00682)				GGTGAAATATCCAGTTACTCC	0.502000													14	96					0	0	0.000878237	0	0
CACNB3	784	broad.mit.edu	37	12	49219239	49219239	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr12:49219239C>A	ENST00000301050.2	+	8	795	c.596C>A	c.(595-597)gCt>gAt	p.A199D	CACNB3_ENST00000547392.1_Missense_Mutation_p.A172D|CACNB3_ENST00000547230.1_Missense_Mutation_p.A158D|CACNB3_ENST00000536187.2_Missense_Mutation_p.A198D|CACNB3_ENST00000540990.1_Missense_Mutation_p.A186D	NM_000725.3	NP_000716.2	P54284	CACB3_HUMAN	calcium channel, voltage-dependent, beta 3 subunit	199					axon guidance|membrane depolarization|synaptic transmission	cytosol|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			autonomic_ganglia(1)|breast(1)|large_intestine(5)|lung(4)|prostate(1)	12					Verapamil(DB00661)	ATGCAGAAGGCTCTCTTCGAC	0.562000													10	42					9.05144e-12	4.34743e-11	0.00185496	1	0
TTN	7273	broad.mit.edu	37	2	179397387	179397387	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr2:179397387C>T	ENST00000589042.1	-	358	104179	c.103955G>A	c.(103954-103956)aGa>aAa	p.R34652K	TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R25587K|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R25712K|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R32084K|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R33011K|TTN_ENST00000342175.6_Missense_Mutation_p.R25779K|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000456053.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	33011							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)			AAGAGAACGTCTTCTAGGTCG	0.463000													24	25					0	0	0.00278032	0	0
CD19	930	broad.mit.edu	37	16	28944626	28944626	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr16:28944626C>T	ENST00000538922.1	+	4	693	c.631C>T	c.(631-633)Ccc>Tcc	p.P211S	CD19_ENST00000567541.1_Missense_Mutation_p.P211S|CD19_ENST00000324662.3_Missense_Mutation_p.P211S	NM_001178098.1|NM_001770.5	NP_001171569.1|NP_001761.3	P15391	CD19_HUMAN	CD19 molecule	211	Ig-like C2-type 2.				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						GTCCAGGGGCCCCCTCTCCTG	0.602000													5	12					0	0	0.00116845	0	0
PDE5A	8654	broad.mit.edu	37	4	120528041	120528041	+	Silent	SNP	G	G	A			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr4:120528041G>A	ENST00000354960.3	-	2	883	c.564C>T	c.(562-564)ttC>ttT	p.F188F	PDE5A_ENST00000264805.5_Silent_p.F146F|PDE5A_ENST00000394439.1_Silent_p.F136F	NM_001083.3	NP_001074.2	O76074	PDE5A_HUMAN	phosphodiesterase 5A, cGMP-specific	188	GAF 1.				platelet activation|signal transduction	cytosol	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|zinc ion binding			breast(4)|endometrium(2)|kidney(3)|large_intestine(8)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	27					Dipyridamole(DB00975)|Pentoxifylline(DB00806)|Sildenafil(DB00203)|Tadalafil(DB00820)|Theophylline(DB00277)|Vardenafil(DB00862)	CACAGACAAGGAACAGGGAAT	0.408000													15	56					0	0	0.000566183	0	0
MYOM2	9172	broad.mit.edu	37	8	2026819	2026819	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr8:2026819G>A	ENST00000262113.4	+	12	1408	c.1267G>A	c.(1267-1269)Gaa>Aaa	p.E423K	MYOM2_ENST00000523438.1_Intron	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	423	Fibronectin type-III 1.				muscle contraction	myosin filament	structural constituent of muscle			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		TTGAAGATGTGAAGTAGGAAC	0.373000													30	52					0	0	0.0024448	0	0
DHX33	56919	broad.mit.edu	37	17	5356903	5356903	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr17:5356903G>A	ENST00000225296.3	-	8	1593	c.1393C>T	c.(1393-1395)Cca>Tca	p.P465S	DHX33_ENST00000433302.3_Missense_Mutation_p.P241S	NM_001199699.1|NM_020162.3	NP_001186628.1|NP_064547.2	Q9H6R0	DHX33_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 33	465						nucleolus	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						CACTTACCTGGAGATGGCTTC	0.428000													8	67					0	0	0.000274275	0	0
PPP1R9A	55607	broad.mit.edu	37	7	94919500	94919500	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr7:94919500A>T	ENST00000289495.5	+	18	3992	c.3776A>T	c.(3775-3777)aAa>aTa	p.K1259I	PPP1R9A_ENST00000456331.2_Missense_Mutation_p.K1216I|PPP1R9A_ENST00000433881.1_Missense_Mutation_p.K1061I|PPP1R9A_ENST00000433360.1_Missense_Mutation_p.K1337I|PPP1R9A_ENST00000424654.1_Missense_Mutation_p.K1216I|PPP1R9A_ENST00000340694.4_Missense_Mutation_p.K1061I	NM_001166161.1	NP_001159633.1	Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A	1061						cell junction|synapse|synaptosome	actin binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			GCCCAAGAGAAAATGGAAAAA	0.453000										HNSCC(28;0.073)			11	28					0	0	0.000673444	0	0
ATG14	22863	broad.mit.edu	37	14	55836569	55836569	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr14:55836569G>A	ENST00000247178.5	-	10	1282	c.1247C>T	c.(1246-1248)tCa>tTa	p.S416L		NM_014924.4	NP_055739.2	Q6ZNE5	BAKOR_HUMAN	autophagy related 14	416					autophagic vacuole assembly|positive regulation of autophagy	autophagic vacuole|endoplasmic reticulum|pre-autophagosomal structure membrane	protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(2)	13						GCTCTCATCTGATTCTCCAGC	0.542000													9	41					0	0	0.000978159	0	0
IGLV1-51	28820	broad.mit.edu	37	22	22677061	22677061	+	RNA	SNP	C	C	T			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr22:22677061C>T	ENST00000390290.2	+	0	125				LL22NC03-80A10.6_ENST00000426066.1_RNA																							CCCTCAGTGTCTGCGGCCCCA	0.562000													7	46					0	0	0.00198382	0	0
PBRM1	55193	broad.mit.edu	37	3	52610575	52610575	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr3:52610575G>A	ENST00000356770.4	-	21	3579	c.3577C>T	c.(3577-3579)Ccc>Tcc	p.P1193S	PBRM1_ENST00000337303.4_Missense_Mutation_p.P1225S|PBRM1_ENST00000409767.1_Missense_Mutation_p.P1240S|SMIM4_ENST00000476842.1_Intron|PBRM1_ENST00000296302.7_Missense_Mutation_p.P1225S|PBRM1_ENST00000409114.3_Missense_Mutation_p.P1240S|PBRM1_ENST00000410007.1_Missense_Mutation_p.P1200S|PBRM1_ENST00000409057.1_Missense_Mutation_p.P1225S|PBRM1_ENST00000394830.3_Missense_Mutation_p.P1200S			Q86U86	PB1_HUMAN	polybromo 1	1225	BAH 2.				chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		CATGTCATGGGGCAGGTTTCT	0.383000			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""								9	37					0	0	0.000442599	0	0
KIF9	64147	broad.mit.edu	37	3	47282423	47282423	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr3:47282423C>T	ENST00000335044.2	-	17	2149	c.1792G>A	c.(1792-1794)Gaa>Aaa	p.E598K	KIF9_ENST00000265529.3_Missense_Mutation_p.E598K|KIF9-AS1_ENST00000429315.3_RNA|KIF9_ENST00000352910.4_Missense_Mutation_p.E440K|KIF9_ENST00000444589.2_Missense_Mutation_p.E533K|KIF9_ENST00000452770.2_Missense_Mutation_p.E598K|KIF9_ENST00000487440.1_5'UTR	NM_001134878.1|NM_182902.3	NP_001128350.1|NP_878905.2	Q9HAQ2	KIF9_HUMAN	kinesin family member 9	598					blood coagulation|microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(15)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)	34		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000284)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		GATTTGTTTTCTTTGAAAATT	0.488000													21	69					0	0	0.00229938	0	0
CSMD1	64478	broad.mit.edu	37	8	3141843	3141843	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr8:3141843C>T	ENST00000520002.1	-	27	4534	c.3979G>A	c.(3979-3981)Gag>Aag	p.E1327K	CSMD1_ENST00000542608.1_Missense_Mutation_p.E1326K|CSMD1_ENST00000539096.1_Missense_Mutation_p.E1326K|CSMD1_ENST00000537824.1_Missense_Mutation_p.E1326K|CSMD1_ENST00000523387.1_5'UTR|CSMD1_ENST00000602723.1_Missense_Mutation_p.E1327K|CSMD1_ENST00000400186.3_Missense_Mutation_p.E1327K|CSMD1_ENST00000602557.1_Missense_Mutation_p.E1327K			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1327	CUB 8.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TGAGCCATCTCCGTGTCGAAA	0.557000											OREG0018505	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	14					0	0	0.00198382	0	0
HERC6	55008	broad.mit.edu	37	4	89304453	89304453	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr4:89304453G>A	ENST00000380265.5	+	2	463	c.280G>A	c.(280-282)Gga>Aga	p.G94R	HERC6_ENST00000273960.3_Missense_Mutation_p.G94R|HERC6_ENST00000264346.7_Missense_Mutation_p.G94R	NM_001165136.1	NP_001158608.1	Q8IVU3	HERC6_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 6	94					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytosol	ubiquitin-protein ligase activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	11		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000222)		GTGCCACAAAGGAAGGGTCTT	0.483000													4	4					0	0	0.00024832	0	0
ESPNP	284729	broad.mit.edu	37	1	17023143	17023143	+	RNA	SNP	C	C	T	rs559507	by1000genomes	TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr1:17023143C>T	ENST00000492551.1	-	0	1720					NR_026567.1																						TGTGGGGCTCCGGACTGGTAA	0.692000													3	9					0	0	6.4e-05	0	0
GOLGA4	2803	broad.mit.edu	37	3	37367211	37367211	+	Silent	SNP	T	T	C			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr3:37367211T>C	ENST00000361924.2	+	14	4208	c.3834T>C	c.(3832-3834)ctT>ctC	p.L1278L	GOLGA4_ENST00000444882.1_Intron|GOLGA4_ENST00000356847.4_Silent_p.L1300L	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN	golgin A4	1278	Glu-rich.				Golgi to plasma membrane protein transport	Golgi membrane|trans-Golgi network	protein binding			NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						AAGCACAACTTAGACAGTTGA	0.353000													15	32					0	0	0.00316338	0	0
RSPH6A	81492	broad.mit.edu	37	19	46307711	46307711	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr19:46307711C>G	ENST00000221538.3	-	3	1594	c.1452G>C	c.(1450-1452)caG>caC	p.Q484H	RSPH6A_ENST00000597055.1_Missense_Mutation_p.Q484H|RSPH6A_ENST00000600188.1_Missense_Mutation_p.Q220H	NM_030785.3	NP_110412.1	Q9H0K4	RSH6A_HUMAN	radial spoke head 6 homolog A (Chlamydomonas)	484						intracellular				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	32						TGCGGGCTATCTGGGCCCGCA	0.642000													9	27					0	0	0.000274275	0	0
CFHR4	10877	broad.mit.edu	37	1	196887503	196887503	+	Silent	SNP	G	G	A			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr1:196887503G>A	ENST00000367416.2	+	10	1838	c.1701G>A	c.(1699-1701)agG>agA	p.R567R	CFHR2_ENST00000367421.3_Intron|CFHR4_ENST00000251424.4_Silent_p.R321R|CFHR4_ENST00000367418.1_Silent_p.R321R	NM_001201550.2|NM_001201551.1	NP_001188479.1|NP_001188480.1			complement factor H-related 4											NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	36						CAGTGTGTAGGGAAGGCATAG	0.378000													8	72					0	0	0.000673444	0	0
MCF2	4168	broad.mit.edu	37	X	138669924	138669924	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chrX:138669924G>A	ENST00000520602.1	-	25	2938	c.2653C>T	c.(2653-2655)Caa>Taa	p.Q885*	MCF2_ENST00000370578.4_Nonsense_Mutation_p.Q970*|MCF2_ENST00000414978.1_Nonsense_Mutation_p.Q885*|MCF2_ENST00000536274.1_Nonsense_Mutation_p.Q786*|MCF2_ENST00000519895.1_Nonsense_Mutation_p.Q901*|MCF2_ENST00000370573.4_Nonsense_Mutation_p.Q825*|MCF2_ENST00000338585.6_Nonsense_Mutation_p.Q841*|MCF2_ENST00000370576.4_Nonsense_Mutation_p.Q825*			P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence	825					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)					TCTGTTAATTGATCCTGTTGC	0.333000													21	42					0	0	0.00229938	0	0
GLCE	26035	broad.mit.edu	37	15	69548414	69548414	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr15:69548414G>A	ENST00000261858.2	+	3	497	c.269G>A	c.(268-270)gGc>gAc	p.G90D	GLCE_ENST00000559420.2_Missense_Mutation_p.G26D	NM_015554.1	NP_056369.1	O94923	GLCE_HUMAN	glucuronic acid epimerase	90					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						GTTGTTGGGGGCTTCAATAGC	0.458000													7	42					0	0	0.00198382	0	0
ZNF804B	219578	broad.mit.edu	37	7	88965299	88965299	+	Silent	SNP	G	G	A			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr7:88965299G>A	ENST00000333190.4	+	4	3612	c.3003G>A	c.(3001-3003)acG>acA	p.T1001T		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	1001						intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			CAAGGACTACGGAGAAAGACA	0.363000										HNSCC(36;0.09)			8	40					0	0	0.00307968	0	0
PARP1	142	broad.mit.edu	37	1	226564912	226564912	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr1:226564912T>C	ENST00000366794.5	-	13	1981	c.1838A>G	c.(1837-1839)cAc>cGc	p.H613R		NM_001618.3	NP_001609.2	P09874	PARP1_HUMAN	poly (ADP-ribose) polymerase 1	613				H -> Q (in Ref. 3; AAA60155).	cellular response to insulin stimulus|protein ADP-ribosylation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nuclear envelope|nucleolus|transcription factor complex	DNA binding|identical protein binding|NAD+ ADP-ribosyltransferase activity|protein N-terminus binding|transcription factor binding|zinc ion binding			breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	44	Breast(184;0.133)			GBM - Glioblastoma multiforme(131;0.0531)		TTTCATGAAGTGCTCAATGGC	0.478000								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA					9	234					0	0	0.000673444	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377		TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368000	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				19	42					0	0	0.00152264	0	0
ADAM2	2515	broad.mit.edu	37	8	39624517	39624517	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr8:39624517C>T	ENST00000265708.4	-	14	1460	c.1357G>A	c.(1357-1359)Gac>Aac	p.D453N	ADAM2_ENST00000521880.1_Missense_Mutation_p.D453N|ADAM2_ENST00000347580.4_Missense_Mutation_p.D434N|ADAM2_ENST00000379853.2_Missense_Mutation_p.D327N	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2	453	Disintegrin.				cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		TCAGGGAGGTCGCATTCTTCA	0.398000													6	76					0	0	0.00198382	0	0
TRHR	7201	broad.mit.edu	37	8	110099745	110099745	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr8:110099745G>A	ENST00000518632.1	+	2	355	c.4G>A	c.(4-6)Gaa>Aaa	p.E2K	TRHR_ENST00000311762.2_Missense_Mutation_p.E2K			P34981	TRFR_HUMAN	thyrotropin-releasing hormone receptor	2						integral to plasma membrane	thyrotropin-releasing hormone receptor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(12)|prostate(4)|skin(4)|urinary_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(57;2.3e-11)			TCTAAAGATGGAAAACGAGAC	0.458000													4	24					0	0	0.00024832	0	0
VARS2	57176	broad.mit.edu	37	6	30892296	30892296	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr6:30892296C>T	ENST00000321897.5	+	25	3264	c.2632C>T	c.(2632-2634)Ccc>Tcc	p.P878S	VARS2_ENST00000542001.1_Missense_Mutation_p.P738S|VARS2_ENST00000541562.1_Missense_Mutation_p.P908S|VARS2_ENST00000476162.1_3'UTR|VARS2_ENST00000416670.2_Missense_Mutation_p.P878S			Q5ST30	SYVM_HUMAN	valyl-tRNA synthetase 2, mitochondrial	878					valyl-tRNA aminoacylation	mitochondrion	ATP binding|valine-tRNA ligase activity			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(3)|prostate(3)|skin(4)|urinary_tract(1)	46						CCCCCCTGCCCCCAGCATCTC	0.677000													11	28					0	0	0.00136819	0	0
WHSC1L1	54904	broad.mit.edu	37	8	38194888	38194888	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr8:38194888G>A	ENST00000317025.8	-	4	1362	c.845C>T	c.(844-846)cCt>cTt	p.P282L	WHSC1L1_ENST00000527502.1_Missense_Mutation_p.P282L|WHSC1L1_ENST00000316985.3_Missense_Mutation_p.P282L|WHSC1L1_ENST00000433384.2_Missense_Mutation_p.P282L|RP11-513D5.2_ENST00000527912.1_RNA	NM_023034.1	NP_075447.1	Q9BZ95	NSD3_HUMAN	Wolf-Hirschhorn syndrome candidate 1-like 1	282	PWWP 1.				cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome	histone-lysine N-methyltransferase activity|zinc ion binding			NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)			AGGCCACCAAGGATAGGTTCC	0.428000			T	NUP98	AML								8	35					0	0	0.00307968	0	0
TNS4	84951	broad.mit.edu	37	17	38638427	38638427	+	Silent	SNP	G	G	A			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr17:38638427G>A	ENST00000254051.6	-	8	1784	c.1626C>T	c.(1624-1626)tcC>tcT	p.S542S		NM_032865.5	NP_116254.4	Q8IZW8	TENS4_HUMAN	tensin 4	542	SH2.				apoptosis|protein localization	cytoplasm|cytoskeleton|focal adhesion	actin binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	30		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(5;5.91e-05)			GGGCCATGATGGAATGCTGGC	0.597000													10	25					0	0	0.00185496	0	0
AQP2	359	broad.mit.edu	37	12	50347952	50347952	+	Silent	SNP	G	G	A			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr12:50347952G>A	ENST00000199280.3	+	2	460	c.375G>A	c.(373-375)acG>acA	p.T125T	RP11-469H8.6_ENST00000550530.1_RNA|RP11-469H8.6_ENST00000552379.1_RNA	NM_000486.5	NP_000477.1	P41181	AQP2_HUMAN	aquaporin 2 (collecting duct)	125			T -> M (in ANDI).		cellular response to copper ion|cellular response to mercury ion|excretion	apical plasma membrane|integral to membrane|transport vesicle membrane	glycerol transmembrane transporter activity|water channel activity			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(4)|ovary(2)	10						GCAACAGCACGACGGCTGGCC	0.632000													10	49					0	0	0.00136819	0	0
HECTD2	143279	broad.mit.edu	37	10	93220272	93220272	+	Silent	SNP	C	C	T			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr10:93220272C>T	ENST00000446394.1	+	3	457	c.357C>T	c.(355-357)gtC>gtT	p.V119V	HECTD2_ENST00000371681.4_Silent_p.V119V|HECTD2_ENST00000298068.5_Silent_p.V119V			Q5U5R9	HECD2_HUMAN	HECT domain containing E3 ubiquitin protein ligase 2	119					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity			breast(2)|endometrium(2)|kidney(4)|large_intestine(10)|lung(7)|skin(1)|urinary_tract(1)	27						AGGCCCCAGTCCTTCCAGAAC	0.408000													16	50					0	0	0.00074312	0	0
FBXO42	54455	broad.mit.edu	37	1	16577797	16577797	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr1:16577797G>A	ENST00000375592.3	-	10	1738	c.1522C>T	c.(1522-1524)Ccc>Tcc	p.P508S		NM_018994.1	NP_061867.1	Q6P3S6	FBX42_HUMAN	F-box protein 42	508										autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	26		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00475)|all_lung(284;0.00671)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0193)|Colorectal(212;3.16e-07)|COAD - Colon adenocarcinoma(227;1.46e-05)|BRCA - Breast invasive adenocarcinoma(304;4.37e-05)|Kidney(64;0.000246)|KIRC - Kidney renal clear cell carcinoma(64;0.00336)|STAD - Stomach adenocarcinoma(313;0.0139)|READ - Rectum adenocarcinoma(331;0.0693)		CTGGAAGCGGGTTTCAGATCC	0.488000													5	53					0	0	0.00116845	0	0
TUBGCP5	114791	broad.mit.edu	37	15	22840323	22840323	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr15:22840323C>T	ENST00000283645.4	+	4	519	c.389C>T	c.(388-390)cCa>cTa	p.P130L	TUBGCP5_ENST00000453949.2_Missense_Mutation_p.P130L	NM_052903.4	NP_443135.3	Q96RT8	GCP5_HUMAN	tubulin, gamma complex associated protein 5	130					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			breast(5)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	46		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949)		GTGGAGACACCAAGAAATAAA	0.333000													5	48					0	0	0.000602214	0	0
VWA3A	146177	broad.mit.edu	37	16	22132294	22132294	+	Silent	SNP	C	C	T			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr16:22132294C>T	ENST00000389398.5	+	13	1218	c.1122C>T	c.(1120-1122)tcC>tcT	p.S374S	VWA3A_ENST00000389397.4_5'UTR	NM_173615.3	NP_775886.3	A6NCI4	VWA3A_HUMAN	von Willebrand factor A domain containing 3A	374						extracellular region				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7				GBM - Glioblastoma multiforme(48;0.0439)		CTTAGATTTCCACAGAGATTA	0.438000													8	15					0	0	0.000274275	0	0
MUC16	94025	broad.mit.edu	37	19	9090527	9090527	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr19:9090527C>T	ENST00000397910.4	-	1	1491	c.1288G>A	c.(1288-1290)Gaa>Aaa	p.E430K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	430	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						AAAGTTCCTTCTGTTTCCTTT	0.498000													14	46					0	0	0.00185496	0	0
CASC3	22794	broad.mit.edu	37	17	38325653	38325653	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr17:38325653C>T	ENST00000264645.7	+	12	2268	c.2042C>T	c.(2041-2043)cCc>cTc	p.P681L		NM_007359.4	NP_031385.2	O15234	CASC3_HUMAN	cancer susceptibility candidate 3	681	Necessary for localization in cytoplasmic stress granules.				mRNA processing|mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|response to stress|RNA splicing	exon-exon junction complex|nuclear speck|perinuclear region of cytoplasm	identical protein binding|RNA binding|ubiquitin protein ligase binding			endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(2)	16						CCCTCCCCACCCCGGAGGACT	0.587000													10	37					0	0	0.000442599	0	0
MYH9	4627	broad.mit.edu	37	22	36702035	36702035	+	Silent	SNP	G	G	A			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr22:36702035G>A	ENST00000216181.5	-	17	2330	c.2100C>T	c.(2098-2100)ggC>ggT	p.G700G		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	700	Myosin head-like.				actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						AGATACGGATGCCCTCGAGAA	0.642000			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated				9	64					0	0	0.000274275	0	0
CEP152	22995	broad.mit.edu	37	15	49054838	49054838	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr15:49054838T>C	ENST00000380950.2	-	18	2499	c.2312A>G	c.(2311-2313)aAg>aGg	p.K771R	CEP152_ENST00000325747.5_Missense_Mutation_p.K678R|CEP152_ENST00000399334.3_Missense_Mutation_p.K771R	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	771					centrosome duplication|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein kinase binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		CTGCCACTCCTTTTCAAGCTG	0.338000													6	55					0	0	0.00198382	0	0
MYO1F	4542	broad.mit.edu	37	19	8606848	8606848	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr19:8606848C>T	ENST00000338257.8	-	15	1819	c.1552G>A	c.(1552-1554)Gag>Aag	p.E518K		NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN	myosin IF	518	Myosin head-like.					unconventional myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						CGGTTCCTCTCGCAGAAGCCG	0.617000													5	24					0	0	0.00198382	0	0
SAAL1	113174	broad.mit.edu	37	11	18101970	18101970	+	Silent	SNP	G	G	A			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr11:18101970G>A	ENST00000524803.1	-	12	1450	c.1401C>T	c.(1399-1401)ttC>ttT	p.F467F	SAAL1_ENST00000529318.1_Silent_p.F469F|SAAL1_ENST00000300013.4_Silent_p.F466F			Q96ER3	SAAL1_HUMAN	serum amyloid A-like 1	467					acute-phase response	extracellular region	binding			breast(2)|large_intestine(5)|lung(8)	15						TCAAACTTGGGAAGTTTTTTT	0.328000													7	47					0	0	0.000274275	0	0
LRIG3	121227	broad.mit.edu	37	12	59307766	59307766	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr12:59307766G>A	ENST00000320743.3	-	3	666	c.380C>T	c.(379-381)tCc>tTc	p.S127F	LRIG3_ENST00000379141.4_Missense_Mutation_p.S67F	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	leucine-rich repeats and immunoglobulin-like domains 3	127						integral to membrane			LRIG3/ROS1(2)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48			GBM - Glioblastoma multiforme(1;1.17e-18)			CACTTACAAGGAGAGAAGTGT	0.378000			T	ROS1	NSCLC								7	46					0	0	0.000274275	0	0
SI	6476	broad.mit.edu	37	3	164716418	164716418	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr3:164716418G>A	ENST00000264382.3	-	38	4512	c.4450C>T	c.(4450-4452)Cgt>Tgt	p.R1484C		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1484	Sucrase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	TACGTGGAACGAGAAATTACA	0.383000										HNSCC(35;0.089)			6	50					0	0	0.00307968	0	0
CCNB3	85417	broad.mit.edu	37	X	50085299	50085299	+	Silent	SNP	C	C	T			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chrX:50085299C>T	ENST00000376042.1	+	9	3913	c.3615C>T	c.(3613-3615)ctC>ctT	p.L1205L	CCNB3_ENST00000348603.2_Silent_p.L101L|CCNB3_ENST00000376038.1_Silent_p.L101L|CCNB3_ENST00000276014.7_Silent_p.L1205L			Q8WWL7	CCNB3_HUMAN	cyclin B3	1205					cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	nucleus	protein kinase binding			breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					AGTTACAACTCCTTGGTGCCA	0.463000													8	22					0	0	0.00307968	0	0
MAST1	22983	broad.mit.edu	37	19	12975902	12975902	+	Silent	SNP	C	C	T	rs149802603		TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr19:12975902C>T	ENST00000251472.4	+	14	1587	c.1548C>T	c.(1546-1548)ttC>ttT	p.F516F		NM_014975.2	NP_055790.1	Q9Y2H9	MAST1_HUMAN	microtubule associated serine/threonine kinase 1	516	Protein kinase.				cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						TCACAGATTTCGGCCTCTCCA	0.567000													6	46					0	0	0.00307968	0	0
PCSK9	255738	broad.mit.edu	37	1	55525220	55525220	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr1:55525220C>T	ENST00000302118.5	+	10	1855	c.1565C>T	c.(1564-1566)gCc>gTc	p.A522V	PCSK9_ENST00000543384.1_3'UTR|PCSK9_ENST00000490692.1_Intron	NM_174936.3	NP_777596.2	Q8NBP7	PCSK9_HUMAN	proprotein convertase subtilisin/kexin type 9	522			A -> T.		cellular response to insulin stimulus|cellular response to starvation|cholesterol homeostasis|cholesterol metabolic process|kidney development|liver development|low-density lipoprotein particle receptor catabolic process|lysosomal transport|negative regulation of catalytic activity|negative regulation of low-density lipoprotein particle clearance|negative regulation of receptor recycling|neuron differentiation|positive regulation of neuron apoptosis|positive regulation of receptor internalization|protein autoprocessing|regulation of receptor activity	extracellular space|late endosome|lysosome|perinuclear region of cytoplasm	apolipoprotein receptor binding|identical protein binding|low-density lipoprotein particle receptor binding|serine-type endopeptidase activity|very-low-density lipoprotein particle receptor binding			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(1)|liver(2)|lung(4)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	32						GGTGTCTACGCCATTGCCAGG	0.607000													25	94					0	0	0.000878237	0	0
AGL	178	broad.mit.edu	37	1	100327208	100327208	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr1:100327208G>A	ENST00000294724.4	+	3	710	c.232G>A	c.(232-234)Gat>Aat	p.D78N	AGL_ENST00000370163.3_Missense_Mutation_p.D78N|AGL_ENST00000370165.3_Missense_Mutation_p.D78N|AGL_ENST00000361915.3_Missense_Mutation_p.D78N|AGL_ENST00000361522.4_Missense_Mutation_p.D61N|AGL_ENST00000361302.3_Missense_Mutation_p.D62N|AGL_ENST00000370161.2_Missense_Mutation_p.D62N	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase	78					glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|isoamylase complex|nucleus	4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		AGATGATTCTGATAAATACTG	0.323000													6	44					0	0	0.00116845	0	0
IGHV3OR16-9	28307	broad.mit.edu	37	16	33647278	33647278	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr16:33647278C>T	ENST00000558425.1	-	2	321	c.322G>A	c.(322-324)Gag>Aag	p.E108K																								GCCGTGTCCTCAGCTCTCAAG	0.532000													21	83					0	0	0.00395357	0	0
NBEAL1	65065	broad.mit.edu	37	2	204030954	204030954	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr2:204030954C>T	ENST00000449802.1	+	36	6043	c.5710C>T	c.(5710-5712)Cct>Tct	p.P1904S		NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1	1904							binding			NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						TGATGTAATTCCTGGCAGATT	0.333000													105	222					0	0	0.00361006	0	0
GIMAP8	155038	broad.mit.edu	37	7	150163850	150163850	+	Missense_Mutation	SNP	G	G	A	rs150937690		TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr7:150163850G>A	ENST00000307271.3	+	2	638	c.64G>A	c.(64-66)Gga>Aga	p.G22R		NM_175571.2	NP_783161.1	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	22						endoplasmic reticulum|Golgi apparatus|mitochondrion	GTP binding			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		ATGCCGCTCGGGAAAAAGTGC	0.522000													12	43					0	0	0.000978159	0	0
TBC1D31	93594	broad.mit.edu	37	8	124140586	124140586	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr8:124140586G>A	ENST00000287380.1	+	14	2040	c.1950G>A	c.(1948-1950)atG>atA	p.M650I	TBC1D31_ENST00000522420.1_Missense_Mutation_p.M545I|TBC1D31_ENST00000521676.1_Missense_Mutation_p.M527I|TBC1D31_ENST00000518805.1_Intron|TBC1D31_ENST00000378080.2_Missense_Mutation_p.M545I|TBC1D31_ENST00000327098.5_Missense_Mutation_p.M650I|TBC1D31_ENST00000309336.3_Missense_Mutation_p.M650I	NM_145647.3	NP_663622.2			TBC1 domain family, member 31																		ATCATCTCATGGAGACCACGC	0.348000													18	52					0	0	0.00121646	0	0
CWC25	54883	broad.mit.edu	37	17	36971165	36971165	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr17:36971165G>A	ENST00000225428.4	-	3	674	c.377C>T	c.(376-378)tCc>tTc	p.S126F	CWC25_ENST00000536127.1_Missense_Mutation_p.S63F	NM_017748.3	NP_060218.1	Q9NXE8	CWC25_HUMAN	CWC25 spliceosome-associated protein homolog (S. cerevisiae)	126										central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	14						GTCAAGAAGGGAATTGGCACC	0.507000													8	25					0	0	0.000274275	0	0
LOC146880	146880	broad.mit.edu	37	17	62758806	62758806	+	RNA	SNP	C	C	T			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr17:62758806C>T	ENST00000400873.3	-	0	1139					NR_026899.1																						TGAAATTTCTCCTTGAGAGTT	0.363000													3	11					0	0	0.00024832	0	0
TUBGCP5	114791	broad.mit.edu	37	15	22840322	22840322	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr15:22840322C>T	ENST00000283645.4	+	4	518	c.388C>T	c.(388-390)Cca>Tca	p.P130S	TUBGCP5_ENST00000453949.2_Missense_Mutation_p.P130S	NM_052903.4	NP_443135.3	Q96RT8	GCP5_HUMAN	tubulin, gamma complex associated protein 5	130					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			breast(5)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	46		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949)		TGTGGAGACACCAAGAAATAA	0.333000													5	48					0	0	0.000602214	0	0
ZNF676	163223	broad.mit.edu	37	19	22362861	22362861	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr19:22362861C>T	ENST00000397121.2	-	3	1975	c.1658G>A	c.(1657-1659)aGa>aAa	p.R553K		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	553					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R553I(1)		NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				AGTATGAATTCTCTTGTGTCT	0.378000													4	29					0	0	0.00024832	0	0
DNAJC25	548645	broad.mit.edu	37	9	114411966	114411966	+	Silent	SNP	C	C	T			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr9:114411966C>T	ENST00000313525.3	+	3	779	c.723C>T	c.(721-723)atC>atT	p.I241I	DNAJC25_ENST00000556107.1_Intron|DNAJC25-GNG10_ENST00000374294.3_Intron	NM_001015882.2	NP_001015882.2	Q9H1X3	DJC25_HUMAN	DnaJ (Hsp40) homolog, subfamily C , member 25	241					protein folding	integral to membrane	heat shock protein binding|unfolded protein binding			kidney(1)|large_intestine(2)|lung(1)|skin(4)	8						AACCCCAAATCTGTGATCTTC	0.343000													13	24					0	0	0.00244969	0	0
UBR4	23352	broad.mit.edu	37	1	19441954	19441954	+	Silent	SNP	G	G	A			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr1:19441954G>A	ENST00000375267.2	-	74	11004	c.11001C>T	c.(10999-11001)gtC>gtT	p.V3667V	UBR4_ENST00000375254.3_Silent_p.V3667V|UBR4_ENST00000375218.3_Silent_p.V82V|UBR4_ENST00000375217.2_Silent_p.V3660V|UBR4_ENST00000375226.2_Silent_p.V3643V			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	3667					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		GGTTGGCAGGGACCGAGGCAC	0.542000													6	40					0	0	0.00116845	0	0
PPP1R12B	4660	broad.mit.edu	37	1	202531961	202531961	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr1:202531961T>G	ENST00000406302.3	+	20	2716	c.2563T>G	c.(2563-2565)Tca>Gca	p.S855A	PPP1R12B_ENST00000336894.4_Missense_Mutation_p.S855A|PPP1R12B_ENST00000367270.4_Missense_Mutation_p.S81A|PPP1R12B_ENST00000290419.5_3'UTR|PPP1R12B_ENST00000391959.3_Missense_Mutation_p.S81A	NM_001197131.1|NM_002481.3	NP_001184060.1|NP_002472.2	O60237	MYPT2_HUMAN	protein phosphatase 1, regulatory subunit 12B	855					regulation of muscle contraction|signal transduction	cytoplasm	enzyme activator activity			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(17)|ovary(4)|skin(3)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(75;0.166)			TGACCGGGCTTCAGCAAGAGC	0.483000													4	87					0	0	0.00198382	0	0
TATDN2	9797	broad.mit.edu	37	3	10320602	10320602	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr3:10320602G>A	ENST00000287652.4	+	7	3230	c.2179G>A	c.(2179-2181)Ggc>Agc	p.G727S	TATDN2_ENST00000496355.1_3'UTR|RP11-438J1.1_ENST00000450534.1_3'UTR|TATDN2_ENST00000448281.2_Missense_Mutation_p.G727S	NM_014760.3	NP_055575.3	Q93075	TATD2_HUMAN	TatD DNase domain containing 2	727						nucleus	endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(9)|pancreas(2)|prostate(1)|stomach(2)	28						TGCCCACCCGGGCCTGGCCTT	0.532000													5	29					0	0	0.00116845	0	0
ABCC8	6833	broad.mit.edu	37	11	17427103	17427103	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr11:17427103C>A	ENST00000302539.4	-	27	3465	c.3340G>T	c.(3340-3342)Gag>Tag	p.E1114*	ABCC8_ENST00000389817.3_Nonsense_Mutation_p.E1113*	NM_000352.3	NP_000343.2	Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	1113	ABC transmembrane type-1 2.				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	GGCGTGGTCTCAAAAAACCTA	0.448000													28	136					7.01153e-11	3.35749e-10	0.00127121	1	0
PRDM16	63976	broad.mit.edu	37	1	3348622	3348622	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr1:3348622C>T	ENST00000378398.3	+	17	3696	c.3614C>T	c.(3613-3615)gCa>gTa	p.A1205V	PRDM16_ENST00000378391.2_Missense_Mutation_p.A1205V|PRDM16_ENST00000511072.1_Intron|PRDM16_ENST00000512462.1_3'UTR|PRDM16_ENST00000442529.2_Missense_Mutation_p.A1204V|PRDM16_ENST00000441472.2_Missense_Mutation_p.A1204V|PRDM16_ENST00000514189.1_Intron|PRDM16_ENST00000270722.5_Missense_Mutation_p.A1205V			Q9HAZ2	PRD16_HUMAN	PR domain containing 16	1205	Mediates interaction with SKI and regulation of TGF-beta signaling.				brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		GCTGAGGAAGCATTTGAAGTT	0.527000			T	EVI1	"""MDS, AML"""								10	35					0	0	0.000442599	0	0
ECE2	9718	broad.mit.edu	37	3	183995065	183995065	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr3:183995065G>A	ENST00000402825.3	+	4	643	c.643G>A	c.(643-645)Gag>Aag	p.E215K	EIF2B5_ENST00000444495.1_Intron|ECE2_ENST00000359140.4_Missense_Mutation_p.E68K|ECE2_ENST00000404464.3_Missense_Mutation_p.E97K|ECE2_ENST00000357474.5_Missense_Mutation_p.E143K	NM_014693.3	NP_055508.3	O60344	ECE2_HUMAN	endothelin converting enzyme 2	215	Endothelin-converting enzyme 2 region.				brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing	cytoplasmic vesicle membrane|Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity|methyltransferase activity			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CTGCCTTACAGAGGCCTGCAT	0.582000													8	34					0	0	0.000673444	0	0
ZNF684	127396	broad.mit.edu	37	1	41012390	41012390	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr1:41012390C>T	ENST00000372699.3	+	5	646	c.395C>T	c.(394-396)tCa>tTa	p.S132L	ZNF684_ENST00000493756.1_3'UTR	NM_152373.3	NP_689586.3	Q5T5D7	ZN684_HUMAN	zinc finger protein 684	132					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(2)|lung(3)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	13	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;5.42e-18)			AGAAAAAAATCATATAAATCG	0.313000													11	31					0	0	0.00136819	0	0
ARRDC5	645432	broad.mit.edu	37	19	4902816	4902816	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr19:4902816C>T	ENST00000381781.2	-	1	63	c.64G>A	c.(64-66)Gaa>Aaa	p.E22K		NM_001080523.1	NP_001073992.1	A6NEK1	ARRD5_HUMAN	arrestin domain containing 5	22					signal transduction					endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0257)		AGCACTAATTCGATCGACTTC	0.547000													6	34					0	0	0.00116845	0	0
HIPK2	28996	broad.mit.edu	37	7	139311392	139311392	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr7:139311392G>A	ENST00000406875.3	-	6	1668	c.1574C>T	c.(1573-1575)cCc>cTc	p.P525L	HIPK2_ENST00000342645.6_Missense_Mutation_p.P525L|HIPK2_ENST00000428878.2_Missense_Mutation_p.P525L	NM_022740.4	NP_073577.3	Q9H2X6	HIPK2_HUMAN	homeodomain interacting protein kinase 2	525	Protein kinase.				apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation of BMP signaling pathway|positive regulation of JNK cascade|positive regulation of transforming growth factor beta receptor signaling pathway|SMAD protein signal transduction|transcription, DNA-dependent|virus-host interaction	centrosome|nuclear membrane|PML body	ATP binding|protein serine/threonine kinase activity|SMAD binding|transcription corepressor activity|virion binding			breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Melanoma(164;0.205)					GGTGACAAAGGGATGGTTCAG	0.498000													9	17					0	0	0.000274275	0	0
GAS2	2620	broad.mit.edu	37	11	22833509	22833509	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr11:22833509G>A	ENST00000454584.2	+	8	1194	c.889G>A	c.(889-891)Gat>Aat	p.D297N	GAS2_ENST00000278187.3_Missense_Mutation_p.D297N|GAS2_ENST00000433790.1_Missense_Mutation_p.D297N	NM_001143830.1	NP_001137302.1	O43903	GAS2_HUMAN	growth arrest-specific 2	297					cell cycle arrest|cellular component disassembly involved in apoptosis|regulation of cell shape	actin filament|cytosol|membrane				breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(4)|stomach(1)	24						CATGAATCCAGATAACTACTT	0.458000													4	33					0	0	0.000602214	0	0
ATP13A2	23400	broad.mit.edu	37	1	17322554	17322554	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr1:17322554G>A	ENST00000452699.1	-	15	1633	c.1444C>T	c.(1444-1446)Cga>Tga	p.R482*	ATP13A2_ENST00000341676.5_Nonsense_Mutation_p.R482*|RP1-37C10.3_ENST00000446261.1_RNA|ATP13A2_ENST00000502860.1_5'UTR|ATP13A2_ENST00000326735.8_Nonsense_Mutation_p.R487*	NM_001141973.1|NM_022089.2	NP_001135445.1|NP_071372.1	Q9NQ11	AT132_HUMAN	ATPase type 13A2	487					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)		CTCCGCAGTCGGCTCTGGGCG	0.622000													6	46					0	0	0.00198382	0	0
TSEN2	80746	broad.mit.edu	37	3	12531302	12531302	+	Translation_Start_Site	SNP	G	G	A			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr3:12531302G>A	ENST00000444864.1	+	2	390	c.3G>A	c.(1-3)atG>atA	p.M1I	TSEN2_ENST00000402228.3_Start_Codon_SNP_p.M1I|TSEN2_ENST00000454502.2_Start_Codon_SNP_p.M1I|TSEN2_ENST00000383797.5_Start_Codon_SNP_p.M1I|TSEN2_ENST00000284995.6_Start_Codon_SNP_p.M1I|TSEN2_ENST00000314571.7_Start_Codon_SNP_p.M1I|TSEN2_ENST00000415684.1_Start_Codon_SNP_p.M1I	NM_001145395.1	NP_001138867.1	Q8NCE0	SEN2_HUMAN	TSEN2 tRNA splicing endonuclease subunit	1					mRNA processing|tRNA splicing, via endonucleolytic cleavage and ligation	cytoplasm|nucleolus|tRNA-intron endonuclease complex	nucleic acid binding|tRNA-intron endonuclease activity			central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)	19						TCTGAAAAATGGCAGAAGCAG	0.408000													45	164					0	0	0.00285205	0	0
GPR98	84059	broad.mit.edu	37	5	89923430	89923430	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr5:89923430C>T	ENST00000405460.2	+	7	1171	c.1075C>T	c.(1075-1077)Cac>Tac	p.H359Y		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	359	Calx-beta 3.				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	p.H359Y(1)|p.H359D(1)		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)		TGAATCGTTTCACATTATGTT	0.368000													12	125					0	0	0.00185496	0	0
DSCAM	1826	broad.mit.edu	37	21	42080554	42080554	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr21:42080554C>T	ENST00000400454.1	-	2	664	c.187G>A	c.(187-189)Ggc>Agc	p.G63S		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	63	Ig-like C2-type 1.				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)				ATCTCCTCGCCCGTGGCTAGG	0.587000													15	55					0	0	0.000566183	0	0
ENTPD4	9583	broad.mit.edu	37	8	23294537	23294537	+	Silent	SNP	G	G	A			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr8:23294537G>A	ENST00000358689.4	-	10	1519	c.1284C>T	c.(1282-1284)ttC>ttT	p.F428F	ENTPD4_ENST00000417069.2_Silent_p.F420F|ENTPD4_ENST00000356206.6_Silent_p.F420F	NM_001128930.2|NM_004901.4	NP_001122402.1|NP_004892.1	Q9Y227	ENTP4_HUMAN	ectonucleoside triphosphate diphosphohydrolase 4	428					UDP catabolic process	autophagic vacuole membrane|cytoplasmic vesicle|integral to Golgi membrane	uridine-diphosphatase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	25		Prostate(55;0.114)		Colorectal(74;0.0161)|COAD - Colon adenocarcinoma(73;0.0649)		AGAAGCCATAGAATTCACTGT	0.463000													20	69					0	0	0.00188189	0	0
FOXS1	2307	broad.mit.edu	37	20	30432786	30432786	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr20:30432786C>G	ENST00000375978.3	-	1	634	c.560G>C	c.(559-561)cGg>cCg	p.R187P		NM_004118.3	NP_004109.1	O43638	FOXS1_HUMAN	forkhead box S1	187					anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|insulin receptor signaling pathway|lymphangiogenesis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|neural crest cell fate commitment|neuromuscular process controlling balance|Notch signaling pathway|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of multicellular organism growth|positive regulation of transcription from RNA polymerase II promoter|regulation of blood vessel size|regulation of organ growth|somitogenesis|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	transcription factor complex	chromatin DNA binding|DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			kidney(1)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1)	9						CATGGGTGGCCGAGGCCTGCC	0.627000													10	24					0	0	0.000673444	0	0
WDR3	10885	broad.mit.edu	37	1	118501935	118501935	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr1:118501935G>A	ENST00000349139.4	+	27	2744	c.2697G>A	c.(2695-2697)atG>atA	p.M899I	SPAG17_ENST00000336338.5_Intron	NM_006784.2	NP_006775.1	Q9UNX4	WDR3_HUMAN	WD repeat domain 3	899						nuclear membrane|nucleolus				breast(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(9)|liver(2)|lung(22)|prostate(2)|upper_aerodigestive_tract(1)	49	Esophageal squamous(2;0.162)	all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244)		OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185)		GCTTCAATATGGCTGGTCTTG	0.393000													12	31					0	0	0.00244969	0	0
MYH2	4620	broad.mit.edu	37	17	10432922	10432922	+	Silent	SNP	G	G	A			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr17:10432922G>A	ENST00000245503.5	-	24	3460	c.3076C>T	c.(3076-3078)Ctg>Ttg	p.L1026L	CTC-297N7.7_ENST00000581304.1_RNA|MYH2_ENST00000532183.1_Intron|CTC-297N7.7_ENST00000587182.1_RNA|MYH2_ENST00000397183.2_Silent_p.L1026L|CTC-297N7.7_ENST00000399342.2_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1026					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						GCTTTGGTCAGGGTGTTGACT	0.458000													12	98					0	0	0.00185496	0	0
CNGB3	54714	broad.mit.edu	37	8	87738864	87738864	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr8:87738864G>A	ENST00000320005.5	-	3	280	c.233C>T	c.(232-234)tCc>tTc	p.S78F	CNGB3_ENST00000519777.1_5'UTR|RP11-386D6.1_ENST00000519041.1_RNA	NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	78					signal transduction|visual perception	integral to membrane	cGMP binding	p.S78F(1)		NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						ATCTCCAGAGGAATTTTTCTT	0.428000													17	209					0	0	0.000958276	0	0
GLCE	26035	broad.mit.edu	37	15	69548413	69548413	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr15:69548413G>T	ENST00000261858.2	+	3	496	c.268G>T	c.(268-270)Ggc>Tgc	p.G90C	GLCE_ENST00000559420.2_Missense_Mutation_p.G26C	NM_015554.1	NP_056369.1	O94923	GLCE_HUMAN	glucuronic acid epimerase	90					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						TGTTGTTGGGGGCTTCAATAG	0.453000													7	42					0.00198382	0.00924809	0.00198382	1	0
SRCIN1	80725	broad.mit.edu	37	17	36704930	36704930	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr17:36704930C>T	ENST00000264659.7	-	17	3357	c.3133G>A	c.(3133-3135)Gag>Aag	p.E1045K	SRCIN1_ENST00000398579.4_5'UTR|SRCIN1_ENST00000578925.1_Missense_Mutation_p.E1079K	NM_025248.2	NP_079524.2	Q9C0H9	SRCN1_HUMAN	SRC kinase signaling inhibitor 1	917					exocytosis|negative regulation of protein tyrosine kinase activity|positive regulation of protein tyrosine kinase activity|regulation of cell migration|regulation of dendritic spine morphogenesis|substrate adhesion-dependent cell spreading	actin cytoskeleton|axon|cell junction|cytoplasm|dendrite|postsynaptic density|postsynaptic membrane	protein kinase binding			endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)	19						ACCTCCAGCTCCTCGGACTCA	0.667000													5	10					0	0	0.00116845	0	0
TBX18	9096	broad.mit.edu	37	6	85446745	85446745	+	Silent	SNP	G	G	A			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr6:85446745G>A	ENST00000369663.5	-	8	1819	c.1482C>T	c.(1480-1482)ccC>ccT	p.P494P	TBX18_ENST00000606784.1_Intron	NM_001080508.1	NP_001073977.1	O95935	TBX18_HUMAN	T-box 18	494					multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3)	61		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)		BRCA - Breast invasive adenocarcinoma(108;0.0267)		ACTGGAGCTGGGGGGACATTC	0.537000													19	72					0	0	0.00152264	0	0
BRAF	673	broad.mit.edu	37	7	140453138	140453138	+	Silent	SNP	T	T	G	rs121913374		TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr7:140453138T>G	ENST00000288602.6	-	15	1857	c.1797A>C	c.(1795-1797)acA>acC	p.T599T		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	599	Protein kinase.		T -> R (in CFC syndrome).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.T599_V600insT(5)|p.T599_V600insTT(3)|p.T599_R603>I(2)|p.T599_V600>IAL(2)|p.T599T(2)|p.V600R(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	GAGATTTCACTGTAGCTAGAC	0.363000		61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				19	43					0	0	0.00121646	0	0
UBR4	23352	broad.mit.edu	37	1	19441953	19441953	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr1:19441953G>A	ENST00000375267.2	-	74	11005	c.11002C>T	c.(11002-11004)Cct>Tct	p.P3668S	UBR4_ENST00000375254.3_Missense_Mutation_p.P3668S|UBR4_ENST00000375218.3_Missense_Mutation_p.P83S|UBR4_ENST00000375217.2_Missense_Mutation_p.P3661S|UBR4_ENST00000375226.2_Missense_Mutation_p.P3644S			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	3668					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		GGGTTGGCAGGGACCGAGGCA	0.537000													6	37					0	0	0.00116845	0	0
C7orf34	135927	broad.mit.edu	37	7	142637485	142637485	+	Silent	SNP	G	G	A			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr7:142637485G>A	ENST00000409607.3	+	2	296	c.255G>A	c.(253-255)gtG>gtA	p.V85V		NM_178829.4	NP_849151.2	Q96L11	CG034_HUMAN	chromosome 7 open reading frame 34	60						extracellular region				large_intestine(1)|lung(4)	5	Melanoma(164;0.059)					CCTCCTCAGTGGGTGAGATGT	0.552000													26	53					0	0	0.0024448	0	0
CYP2C19	1557	broad.mit.edu	37	10	96612560	96612560	+	Silent	SNP	G	G	A			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr10:96612560G>A	ENST00000371321.3	+	9	1444	c.1362G>A	c.(1360-1362)caG>caA	p.Q454Q	CYP2C19_ENST00000464755.1_3'UTR	NM_000769.1	NP_000760.1	P33261	CP2CJ_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 19	454					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)	TCATTTTACAGAACTTTAACC	0.448000													13	54					0	0	0.00244969	0	0
CRNN	49860	broad.mit.edu	37	1	152382619	152382619	+	Silent	SNP	G	G	A			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr1:152382619G>A	ENST00000271835.3	-	3	1001	c.939C>T	c.(937-939)acC>acT	p.T313T	RP1-91G5.3_ENST00000411804.1_RNA	NM_016190.2	NP_057274.1	Q9UBG3	CRNN_HUMAN	cornulin	313	Gln-rich.				cell-cell adhesion|response to heat	cytoplasm|membrane	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCTGGGTGCTGGTGCTTCCTG	0.607000													10	155					0	0	0.000673444	0	0
SLC35F3	148641	broad.mit.edu	37	1	234452464	234452464	+	Silent	SNP	C	C	T			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr1:234452464C>T	ENST00000366618.3	+	5	1090	c.945C>T	c.(943-945)gcC>gcT	p.A315A	SLC35F3_ENST00000366617.3_Silent_p.A246A	NM_173508.2	NP_775779.1	Q8IY50	S35F3_HUMAN	solute carrier family 35, member F3	246					transport	integral to membrane				breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|urinary_tract(1)	32	Ovarian(103;0.0454)	all_cancers(173;0.145)|Prostate(94;0.0885)	OV - Ovarian serous cystadenocarcinoma(106;0.00531)			CGATGTCTGCCCTCTACAAGG	0.572000													8	59					0	0	0.000274275	0	0
GLOD4	51031	broad.mit.edu	37	17	673150	673150	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr17:673150G>A	ENST00000301329.6	-	8	875	c.790C>T	c.(790-792)Ctt>Ttt	p.L264F	GLOD4_ENST00000301328.5_Missense_Mutation_p.L279F|GLOD4_ENST00000536578.1_Missense_Mutation_p.L255F	NM_016080.3	NP_057164.3	Q9HC38	GLOD4_HUMAN	glyoxalase domain containing 4	279						mitochondrion				endometrium(1)|large_intestine(1)|prostate(1)	3				UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		ATCTTAGAAAGTTCTCGAAAT	0.443000													5	25					0	0	0.00198382	0	0
BRMS1	25855	broad.mit.edu	37	11	66109080	66109080	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr11:66109080C>T	ENST00000359957.3	-	3	314	c.154G>A	c.(154-156)Gac>Aac	p.D52N	BRMS1_ENST00000425825.2_Missense_Mutation_p.D52N	NM_015399.3	NP_056214.1	Q9HCU9	BRMS1_HUMAN	breast cancer metastasis suppressor 1	52					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						CGCTCATAGTCCTCATCATCC	0.577000													9	79					0	0	0.000673444	0	0
NPC1L1	29881	broad.mit.edu	37	7	44578823	44578823	+	Silent	SNP	C	C	T			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr7:44578823C>T	ENST00000289547.4	-	2	1228	c.1173G>A	c.(1171-1173)cgG>cgA	p.R391R	NPC1L1_ENST00000546276.1_Silent_p.R391R|NPC1L1_ENST00000381160.3_Silent_p.R391R|NPC1L1_ENST00000423141.1_Silent_p.R391R	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	391					cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	CTTTCTCACTCCGGGCTTGGC	0.592000													47	75					0	0	0.00361006	0	0
CCDC90B	60492	broad.mit.edu	37	11	82991187	82991187	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr11:82991187G>A	ENST00000529689.1	-	2	651	c.217C>T	c.(217-219)Cat>Tat	p.H73Y	CCDC90B_ENST00000529073.1_Missense_Mutation_p.H73Y|CCDC90B_ENST00000455220.2_Missense_Mutation_p.H64Y|CCDC90B_ENST00000525503.1_5'UTR|CCDC90B_ENST00000529611.1_5'UTR			Q9GZT6	CC90B_HUMAN	coiled-coil domain containing 90B	73						integral to membrane|mitochondrion				kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	10		Acute lymphoblastic leukemia(157;0.103)				TTCTCACCATGAGTTTCCAAG	0.363000													8	41					0	0	0.000978159	0	0
HIC2	23119	broad.mit.edu	37	22	21799328	21799328	+	Silent	SNP	C	C	T			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr22:21799328C>T	ENST00000443632.2	+	2	516	c.144C>T	c.(142-144)gtC>gtT	p.V48V	HIC2_ENST00000407598.2_Silent_p.V48V|HIC2_ENST00000407464.2_Silent_p.V48V			Q96JB3	HIC2_HUMAN	hypermethylated in cancer 2	48	BTB.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	focal adhesion|nucleus	DNA binding|protein C-terminus binding|zinc ion binding			NS(1)|endometrium(4)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16	Melanoma(16;0.000465)|Ovarian(15;0.00438)|Colorectal(54;0.0968)	Lung SC(17;0.0262)|all_lung(157;0.205)				TGTGTGACGTCATCATCATGG	0.602000													10	41					0	0	0.000673444	0	0
MAN2A2	4122	broad.mit.edu	37	15	91448664	91448664	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr15:91448664C>T	ENST00000360468.3	+	2	334	c.316C>T	c.(316-318)Ccc>Tcc	p.P106S	MAN2A2_ENST00000559717.1_Missense_Mutation_p.P106S	NM_006122.2	NP_006113.2	P49641	MA2A2_HUMAN	mannosidase, alpha, class 2A, member 2	106					mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			GGAGCCCCGGCCCAGCTTCTT	0.662000													12	133					0	0	0.00136819	0	0
CYP4F2	8529	broad.mit.edu	37	19	16000349	16000349	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr19:16000349C>T	ENST00000221700.5	-	7	897	c.802G>A	c.(802-804)Gat>Aat	p.D268N	CYP4F2_ENST00000592328.1_Missense_Mutation_p.D268N|CYP4F2_ENST00000011989.7_Missense_Mutation_p.D119N	NM_001082.3	NP_001073.3	P78329	CP4F2_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 2	268					leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding			NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						ATGACGGCATCTGTGAAGTCG	0.552000													10	60					0	0	0.000442599	0	0
BTNL9	153579	broad.mit.edu	37	5	180477129	180477129	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr5:180477129G>A	ENST00000327705.9	+	4	727	c.496G>A	c.(496-498)Gaa>Aaa	p.E166K	BTNL9_ENST00000515271.1_Missense_Mutation_p.E97K|BTNL9_ENST00000376841.2_Missense_Mutation_p.E166K|BTNL9_ENST00000376842.3_Missense_Mutation_p.E166K	NM_152547.4	NP_689760.2	Q6UXG8	BTNL9_HUMAN	butyrophilin-like 9	166						integral to membrane				breast(2)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(10)|ovary(1)	19	all_cancers(89;2.45e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGGCTTCAAGGAAGGAGGCAT	0.572000													5	39					0	0	0.000602214	0	0
TTLL2	83887	broad.mit.edu	37	6	167753853	167753853	+	Silent	SNP	G	G	A			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr6:167753853G>A	ENST00000239587.5	+	3	553	c.465G>A	c.(463-465)agG>agA	p.R155R		NM_031949.4	NP_114155.4	Q9BWV7	TTLL2_HUMAN	tubulin tyrosine ligase-like family, member 2	155	TTL.				protein modification process		ATP binding|tubulin-tyrosine ligase activity			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(66;7.8e-06)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		AGCTTACCAGGAAAGACTGTT	0.507000													4	20					0	0	0.00024832	0	0
TNS3	64759	broad.mit.edu	37	7	47333376	47333376	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr7:47333376G>A	ENST00000398879.1	-	25	4093	c.3727C>T	c.(3727-3729)Ccg>Tcg	p.P1243S	TNS3_ENST00000311160.9_Missense_Mutation_p.P1243S|TNS3_ENST00000355730.3_Missense_Mutation_p.P1003S			Q68CZ2	TENS3_HUMAN	tensin 3	1243	SH2.					focal adhesion	protein binding			NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						ACTCCCTTCGGGGTACACTCG	0.458000													19	64					0	0	0.00188189	0	0
LOC154761	154761	broad.mit.edu	37	7	143510029	143510029	+	RNA	SNP	C	C	T			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr7:143510029C>T	ENST00000494978.1	-	0	1549					NR_015421.1																						TCTAATTTCTCCAACGCTTGG	0.507000													11	37					0	0	0.000673444	0	0
SCAP	22937	broad.mit.edu	37	3	47470067	47470067	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr3:47470067G>A	ENST00000265565.5	-	4	758	c.346C>T	c.(346-348)Cgt>Tgt	p.R116C	SCAP_ENST00000441517.2_Intron|SCAP_ENST00000545718.1_Intron	NM_012235.2	NP_036367.2	Q12770	SCAP_HUMAN	SREBF chaperone	116					cholesterol metabolic process|negative regulation of cholesterol biosynthetic process|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of transcription via sterol regulatory element binding involved in ER-nuclear sterol response pathway	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane	unfolded protein binding			endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	26				BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)		AAAGGTGAACGAAATACATCT	0.557000													19	57					0	0	0.00074312	0	0
LRP1B	53353	broad.mit.edu	37	2	141473615	141473615	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr2:141473615C>T	ENST00000389484.3	-	37	6921	c.5950G>A	c.(5950-5952)Ggt>Agt	p.G1984S		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1984					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)		CGGAAAGAACCATTGAGTCTT	0.343000										TSP Lung(27;0.18)			10	93					0	0	0.000673444	0	0
TSSK4	283629	broad.mit.edu	37	14	24675720	24675720	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr14:24675720G>A	ENST00000339917.5	+	2	435	c.231G>A	c.(229-231)atG>atA	p.M77I	TSSK4_ENST00000287913.6_Missense_Mutation_p.M77I|TM9SF1_ENST00000530611.1_Intron|TSSK4_ENST00000556621.1_Start_Codon_SNP_p.M1I|TSSK4_ENST00000428351.2_Intron|TM9SF1_ENST00000556387.1_Intron	NM_001184739.1|NM_174944.3	NP_001171668.1|NP_777604.2	Q6SA08	TSSK4_HUMAN	testis-specific serine kinase 4	77	Protein kinase.				cell differentiation|multicellular organismal development|positive regulation of CREB transcription factor activity|spermatogenesis		ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)	8				GBM - Glioblastoma multiforme(265;0.018)		GTCAGGTAATGAAAGTCTTGC	0.517000													6	32					0	0	0.00198382	0	0
SLC25A52	147407	broad.mit.edu	37	18	29340392	29340392	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr18:29340392C>T	ENST00000269205.5	-	1	451	c.263G>A	c.(262-264)cGa>cAa	p.R88Q	SLC25A52_ENST00000579441.2_Missense_Mutation_p.R78Q	NM_001034172.2	NP_001029344.3	Q3SY17	MCAR2_HUMAN	solute carrier family 25, member 52	78					transport	integral to membrane|mitochondrial inner membrane											ATACAAATTTCGAAATCCATC	0.463000													7	44					0	0	0.00198382	0	0
ELMO3	79767	broad.mit.edu	37	16	67236598	67236598	+	Silent	SNP	C	C	T			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr16:67236598C>T	ENST00000393997.2	+	15	1683	c.1626C>T	c.(1624-1626)ttC>ttT	p.F542F	ELMO3_ENST00000360833.1_Silent_p.F525F|ELMO3_ENST00000477898.1_Silent_p.F376F	NM_024712.3	NP_078988.2	Q96BJ8	ELMO3_HUMAN	engulfment and cell motility 3	489	PH.				apoptosis|phagocytosis	cytoplasm|cytoskeleton	SH3 domain binding			cervix(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	18		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00067)|Epithelial(162;0.00442)|all cancers(182;0.0417)		TGGAGCTCTTCCGAACCAAGG	0.647000													5	28					0	0	0.00198382	0	0
PTPRZ1	5803	broad.mit.edu	37	7	121650643	121650643	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr7:121650643G>A	ENST00000393386.2	+	12	1954	c.1543G>A	c.(1543-1545)Gat>Aat	p.D515N	PTPRZ1_ENST00000449182.1_Missense_Mutation_p.D515N	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	515					central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						CACAGAAAAAGATATTTCCTT	0.413000													23	48					0	0	0.00278032	0	0
ZC3H3	23144	broad.mit.edu	37	8	144621039	144621039	+	Silent	SNP	G	G	A			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr8:144621039G>A	ENST00000262577.5	-	2	529	c.498C>T	c.(496-498)ccC>ccT	p.P166P		NM_015117.2	NP_055932.2	Q8IXZ2	ZC3H3_HUMAN	zinc finger CCCH-type containing 3	166					mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus	nucleus	nucleic acid binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)			GTCCCCGAGGGGGCTCACCTT	0.632000													6	20					0	0	0.00198382	0	0
OR10S1	219873	broad.mit.edu	37	11	123847810	123847810	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr11:123847810G>A	ENST00000531945.1	-	1	678	c.589C>T	c.(589-591)Cct>Tct	p.P197S		NM_001004474.1	NP_001004474.1	Q8NGN2	O10S1_HUMAN	olfactory receptor, family 10, subfamily S, member 1	197					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	36		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		TTTAGGACAGGGGGTATGTCG	0.562000													4	26					0	0	0.00024832	0	0
PCYT2	5833	broad.mit.edu	37	17	79867395	79867395	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr17:79867395G>A	ENST00000538936.2	-	2	281	c.173C>T	c.(172-174)aCc>aTc	p.T58I	PCYT2_ENST00000331285.3_5'UTR|PCYT2_ENST00000538721.2_Missense_Mutation_p.T58I|PCYT2_ENST00000571105.1_Missense_Mutation_p.T58I|PCYT2_ENST00000570391.1_Missense_Mutation_p.T26I|PCYT2_ENST00000570388.1_5'UTR	NM_001256435.1|NM_002861.3	NP_001243364.1|NP_002852.1	Q99447	PCY2_HUMAN	phosphate cytidylyltransferase 2, ethanolamine	58	Catalytic 1 (Potential).				phospholipid biosynthetic process		ethanolamine-phosphate cytidylyltransferase activity			breast(2)|endometrium(1)|lung(4)|ovary(1)	8	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			CTTACCATCGGTGTGCACGCC	0.637000													10	53					0	0	0.000442599	0	0
GRAMD2	196996	broad.mit.edu	37	15	72455626	72455626	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr15:72455626G>A	ENST00000309731.7	-	10	950	c.937C>T	c.(937-939)Ctc>Ttc	p.L313F	GRAMD2_ENST00000564184.1_5'UTR	NM_001012642.2	NP_001012660.1	Q8IUY3	GRAM2_HUMAN	GRAM domain containing 2	313						integral to membrane				cervix(2)|endometrium(1)|large_intestine(4)|lung(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	13						AAGACCTTGAGGAGCCGGTAA	0.562000													8	33					0	0	0.000274275	0	0
ITPR3	3710	broad.mit.edu	37	6	33631628	33631628	+	Silent	SNP	C	C	T			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr6:33631628C>T	ENST00000374316.5	+	12	2179	c.1119C>T	c.(1117-1119)acC>acT	p.T373T	ITPR3_ENST00000605930.1_Silent_p.T373T			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	373					activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						ACCCCACCACCTTGCAGAAAA	0.602000													6	30					0	0	0.00198382	0	0
RASA2	5922	broad.mit.edu	37	3	141272772	141272772	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr3:141272772G>A	ENST00000286364.3	+	6	636	c.601G>A	c.(601-603)Ggc>Agc	p.G201S	RASA2_ENST00000452898.1_Missense_Mutation_p.G201S			Q15283	RASA2_HUMAN	RAS p21 protein activator 2	201	C2 2.				intracellular signal transduction|negative regulation of Ras protein signal transduction	intracellular membrane-bounded organelle|intrinsic to internal side of plasma membrane|perinuclear region of cytoplasm	metal ion binding|Ras GTPase activator activity			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	34						TTCTCTAGTGGGCCCTTCTAG	0.323000													9	90					0	0	0.000442599	0	0
ELAVL4	1996	broad.mit.edu	37	1	50610828	50610828	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr1:50610828G>A	ENST00000371824.1	+	2	466	c.209G>A	c.(208-210)gGt>gAt	p.G70D	ELAVL4_ENST00000492299.1_3'UTR|ELAVL4_ENST00000371827.1_Missense_Mutation_p.G70D|ELAVL4_ENST00000448907.2_Missense_Mutation_p.G73D|ELAVL4_ENST00000357083.4_Missense_Mutation_p.G87D|ELAVL4_ENST00000371823.4_Missense_Mutation_p.G70D|ELAVL4_ENST00000371819.1_Missense_Mutation_p.G75D|ELAVL4_ENST00000371821.1_Missense_Mutation_p.G75D			P26378	ELAV4_HUMAN	ELAV like neuron-specific RNA binding protein 4	70	RRM 1.				mRNA processing		AU-rich element binding|mRNA 3'-UTR binding|nucleotide binding			NS(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	32						GGGAGCATTGGTGAAATAGAA	0.423000													7	47					0	0	0.00307968	0	0
USH1C	10083	broad.mit.edu	37	11	17531100	17531100	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr11:17531100G>A	ENST00000005226.7	-	18	1815	c.1816C>T	c.(1816-1818)Cct>Tct	p.P606S	USH1C_ENST00000318024.4_Intron|USH1C_ENST00000529563.1_Intron|USH1C_ENST00000527720.1_Intron|USH1C_ENST00000527020.1_Intron	NM_153676.3	NP_710142.1	Q9Y6N9	USH1C_HUMAN	Usher syndrome 1C (autosomal recessive, severe)	0					equilibrioception|G2/M transition of mitotic cell cycle|photoreceptor cell maintenance|sensory perception of sound	apical part of cell|cytoplasm|stereocilium	protein binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	48						GGCGGGGGAGGGATGGGAATG	0.662000													4	16					0	0	0.000602214	0	0
ACSL5	51703	broad.mit.edu	37	10	114169274	114169274	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr10:114169274C>T	ENST00000393081.1	+	7	849	c.542C>T	c.(541-543)gCc>gTc	p.A181V	ACSL5_ENST00000354655.4_Missense_Mutation_p.A181V|ACSL5_ENST00000433418.1_Missense_Mutation_p.A181V|ACSL5_ENST00000356116.1_Missense_Mutation_p.A237V|ACSL5_ENST00000354273.4_Missense_Mutation_p.A181V	NM_203380.1	NP_976314.1	Q9ULC5	ACSL5_HUMAN	acyl-CoA synthetase long-chain family member 5	181					fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane	ATP binding|long-chain fatty acid-CoA ligase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|stomach(1)	21		Colorectal(252;0.117)|Breast(234;0.222)		Epithelial(162;0.0343)|all cancers(201;0.137)		GCTGATATCGCCATGGTGATC	0.473000													13	72					0	0	0.00316338	0	0
SPATA2	9825	broad.mit.edu	37	20	48522808	48522808	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr20:48522808G>A	ENST00000422556.1	-	3	1260	c.911C>T	c.(910-912)tCc>tTc	p.S304F	SPATA2_ENST00000289431.5_Missense_Mutation_p.S304F|SPATA2_ENST00000543716.1_Missense_Mutation_p.S167F	NM_001135773.1	NP_001129245.1	Q9UM82	SPAT2_HUMAN	spermatogenesis associated 2	304					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm|nucleus				central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	20	Hepatocellular(150;0.133)		BRCA - Breast invasive adenocarcinoma(9;4.03e-06)			GCCGTGGGGGGAGCTGGCCAT	0.642000													13	47					0	0	0.00185496	0	0
BRWD3	254065	broad.mit.edu	37	X	79945479	79945479	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chrX:79945479G>A	ENST00000373275.4	-	32	3931	c.3715C>T	c.(3715-3717)Ctt>Ttt	p.L1239F	BRWD3_ENST00000473691.1_5'UTR	NM_153252.4	NP_694984.4	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	1239										breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						ATAAATCGAAGTAAGACATCA	0.299000													4	6					0	0	0.00116845	0	0
PRDM16	63976	broad.mit.edu	37	1	3328920	3328920	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr1:3328920C>T	ENST00000378398.3	+	10	2244	c.2162C>T	c.(2161-2163)cCc>cTc	p.P721L	PRDM16_ENST00000378391.2_Missense_Mutation_p.P720L|PRDM16_ENST00000511072.1_Missense_Mutation_p.P721L|PRDM16_ENST00000512462.1_3'UTR|PRDM16_ENST00000442529.2_Missense_Mutation_p.P720L|PRDM16_ENST00000441472.2_Missense_Mutation_p.P720L|PRDM16_ENST00000514189.1_Missense_Mutation_p.P721L|PRDM16_ENST00000270722.5_Missense_Mutation_p.P720L			Q9HAZ2	PRD16_HUMAN	PR domain containing 16	720	Interaction with CTBP1 and CTBP2 (By similarity).				brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		GGCTCGCTCCCCTACCACTCG	0.637000			T	EVI1	"""MDS, AML"""								5	26					0	0	0.000602214	0	0
KIAA1614	57710	broad.mit.edu	37	1	180885966	180885966	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr1:180885966C>T	ENST00000367588.4	+	2	782	c.727C>T	c.(727-729)Cct>Tct	p.P243S		NM_020950.1	NP_066001.1	Q5VZ46	K1614_HUMAN	KIAA1614	243										NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	33						AAGGTCCTACCCTTTTCCAGA	0.587000													52	76					0	0	0.00361006	0	0
LPIN1	23175	broad.mit.edu	37	2	11905715	11905715	+	Silent	SNP	G	G	A			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr2:11905715G>A	ENST00000256720.2	+	2	141	c.48G>A	c.(46-48)aaG>aaA	p.K16K	LPIN1_ENST00000396099.1_Silent_p.K22K|LPIN1_ENST00000396098.1_Silent_p.K22K|LPIN1_ENST00000449576.2_Silent_p.K65K|LPIN1_ENST00000425416.2_Silent_p.K22K	NM_145693.2	NP_663731.1	Q14693	LPIN1_HUMAN	lipin 1	16	N-LIP.				fatty acid catabolic process|transcription, DNA-dependent|triglyceride biosynthetic process|triglyceride mobilization	cytosol|endoplasmic reticulum membrane	phosphatidate phosphatase activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(15)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	45	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173)		TCACCGTGAAGGAGCTCTACA	0.507000													20	36					0	0	0.00278032	0	0
ZIM3	114026	broad.mit.edu	37	19	57646552	57646552	+	Missense_Mutation	SNP	G	G	A	rs150510557		TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr19:57646552G>A	ENST00000269834.1	-	5	1538	c.1153C>T	c.(1153-1155)Cat>Tat	p.H385Y		NM_052882.1	NP_443114.1	Q96PE6	ZIM3_HUMAN	zinc finger, imprinted 3	385					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.H385Y(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	52		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TCCCCAGTATGGATTTTTTTA	0.393000													16	94					0	0	0.00316338	0	0
HSF1	3297	broad.mit.edu	37	8	145533467	145533467	+	Silent	SNP	C	C	T			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr8:145533467C>T	ENST00000528838.1	+	4	533	c.373C>T	c.(373-375)Ctg>Ttg	p.L125L	HSF1_ENST00000400780.4_Silent_p.L60L	NM_005526.2	NP_005517.1	Q00613	HSF1_HUMAN	heat shock transcription factor 1	125						cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(1)|lung(3)|prostate(3)|skin(1)|urinary_tract(2)	11	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;1.12e-39)|all cancers(56;9.11e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0547)|Colorectal(110;0.055)			GGTGTCCACCCTGAAGAGTGA	0.597000													9	55					0	0	0.000274275	0	0
PCSK1	5122	broad.mit.edu	37	5	95746679	95746679	+	Silent	SNP	C	C	T			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr5:95746679C>T	ENST00000311106.3	-	8	1131	c.894G>A	c.(892-894)ggG>ggA	p.G298G	CTD-2337A12.1_ENST00000502645.2_RNA|PCSK1_ENST00000513085.1_Intron|PCSK1_ENST00000508626.1_Silent_p.G251G	NM_000439.4|NM_001177876.1	NP_000430.3|NP_001171347.1	P29120	NEC1_HUMAN	proprotein convertase subtilisin/kexin type 1	298	Catalytic.				cell-cell signaling|cellular nitrogen compound metabolic process|energy reserve metabolic process|hormone biosynthetic process|peptide biosynthetic process|peptide hormone processing|regulation of insulin secretion	extracellular space|stored secretory granule|transport vesicle	serine-type endopeptidase activity			NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	36		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;3.44e-16)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TGGACCCCTTCCCCTGTCTCC	0.473000													6	41					0	0	0.000274275	0	0
EP400	57634	broad.mit.edu	37	12	132522579	132522579	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr12:132522579C>T	ENST00000333577.4	+	33	6362	c.6253C>T	c.(6253-6255)Ctt>Ttt	p.L2085F	EP400_ENST00000389561.2_Missense_Mutation_p.L2049F|EP400_ENST00000332482.4_Missense_Mutation_p.L2012F|EP400_ENST00000330386.6_Missense_Mutation_p.L1968F|EP400_ENST00000389562.2_Missense_Mutation_p.L2048F			Q96L91	EP400_HUMAN	E1A binding protein p400	2085					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		GTTTGTGGTGCTTTCTCAGGA	0.468000													12	72					0	0	0.00244969	0	0
FBXO18	84893	broad.mit.edu	37	10	5958258	5958258	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr10:5958258C>T	ENST00000379999.5	+	11	1884	c.1780C>T	c.(1780-1782)Ctt>Ttt	p.L594F	FBXO18_ENST00000397269.3_Missense_Mutation_p.L30F|FBXO18_ENST00000362091.4_Missense_Mutation_p.L543F|FBXO18_ENST00000379994.1_Missense_Mutation_p.L280F	NM_032807.4	NP_116196.3	Q8NFZ0	FBX18_HUMAN	F-box protein, helicase, 18	543					DNA repair	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1)	40						CAACTCCGTCCTTGCTGAAGG	0.473000													7	48					0	0	0.00307968	0	0
C7orf34	135927	broad.mit.edu	37	7	142637486	142637486	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr7:142637486G>A	ENST00000409607.3	+	2	297	c.256G>A	c.(256-258)Ggt>Agt	p.G86S		NM_178829.4	NP_849151.2	Q96L11	CG034_HUMAN	chromosome 7 open reading frame 34	61						extracellular region				large_intestine(1)|lung(4)	5	Melanoma(164;0.059)					CTCCTCAGTGGGTGAGATGTG	0.552000													27	53					0	0	0.00327116	0	0
RP1	6101	broad.mit.edu	37	8	55534734	55534734	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr8:55534734G>A	ENST00000220676.1	+	3	821	c.673G>A	c.(673-675)Gag>Aag	p.E225K		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	225	Doublecortin 2.				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			GGCAGGAAGGGAGCCATTTAA	0.483000													9	24					0	0	0.000442599	0	0
ABCA13	154664	broad.mit.edu	37	7	48411933	48411933	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr7:48411933G>A	ENST00000435803.1	+	33	10996	c.10972G>A	c.(10972-10974)Ggg>Agg	p.G3658R		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	3658					transport	integral to membrane	ATP binding|ATPase activity	p.G3658W(2)|p.G3603W(2)		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						CTTGGATTTTGGGATGTCAGT	0.453000													12	220					0	0	0.00185496	0	0
ABCC6	368	broad.mit.edu	37	16	16282690	16282690	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr16:16282690G>A	ENST00000205557.7	-	13	1806	c.1777C>T	c.(1777-1779)Cag>Tag	p.Q593*	ABCC6_ENST00000574094.1_5'UTR	NM_001171.5	NP_001162.4	O95255	MRP6_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 6	593	ABC transmembrane type-1 1.				response to drug|visual perception	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)		CACCTCACCTGGACGAGGGAG	0.572000													4	13					0	0	0.000602214	0	0
CDH18	1016	broad.mit.edu	37	5	19721469	19721469	+	Silent	SNP	G	G	A			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr5:19721469G>A	ENST00000507958.1	-	7	1620	c.630C>T	c.(628-630)gtC>gtT	p.V210V	CDH18_ENST00000502796.1_Silent_p.V210V|CDH18_ENST00000274170.4_Silent_p.V210V|CDH18_ENST00000506372.1_Silent_p.V210V|CDH18_ENST00000511273.1_Silent_p.V210V|CDH18_ENST00000382275.1_Silent_p.V210V			Q13634	CAD18_HUMAN	cadherin 18, type 2	210	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					TTTTAGGGTCGACGGAGAAGT	0.453000													10	67					0	0	0.000978159	0	0
SIGLEC10	89790	broad.mit.edu	37	19	51918076	51918076	+	Splice_Site	SNP	A	A	G			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr19:51918076A>G	ENST00000356298.5	-	8	1732		c.e8+1		SIGLEC10_ENST00000436984.2_Intron|SIGLEC10_ENST00000525998.1_Intron|CTD-2616J11.3_ENST00000532473.1_RNA|SIGLEC10_ENST00000339313.5_Splice_Site|SIGLEC10_ENST00000442846.3_Intron|SIGLEC10_ENST00000441969.3_Intron|SIGLEC10_ENST00000432469.2_Intron|SIGLEC10_ENST00000439889.2_Splice_Site|SIGLEC10_ENST00000353836.5_Intron	NM_033130.4	NP_149121.2	Q96LC7	SIG10_HUMAN	sialic acid binding Ig-like lectin 10						cell adhesion	extracellular region|integral to membrane|plasma membrane	sugar binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)		CGGCCCCCTAACCTGGCAGCT	0.637000													15	55					0	0	0.00074312	0	0
HECTD2	143279	broad.mit.edu	37	10	93220273	93220273	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr10:93220273C>T	ENST00000446394.1	+	3	458	c.358C>T	c.(358-360)Ctt>Ttt	p.L120F	HECTD2_ENST00000371681.4_Missense_Mutation_p.L120F|HECTD2_ENST00000298068.5_Missense_Mutation_p.L120F			Q5U5R9	HECD2_HUMAN	HECT domain containing E3 ubiquitin protein ligase 2	120					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity			breast(2)|endometrium(2)|kidney(4)|large_intestine(10)|lung(7)|skin(1)|urinary_tract(1)	27						GGCCCCAGTCCTTCCAGAACC	0.408000													15	49					0	0	0.000566183	0	0
OR10S1	219873	broad.mit.edu	37	11	123847811	123847811	+	Silent	SNP	G	G	A			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr11:123847811G>A	ENST00000531945.1	-	1	677	c.588C>T	c.(586-588)ccC>ccT	p.P196P		NM_001004474.1	NP_001004474.1	Q8NGN2	O10S1_HUMAN	olfactory receptor, family 10, subfamily S, member 1	196					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	36		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		TTAGGACAGGGGGTATGTCGC	0.567000													4	28					0	0	0.00024832	0	0
LOC146880	146880	broad.mit.edu	37	17	62758807	62758807	+	RNA	SNP	C	C	T			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr17:62758807C>T	ENST00000400873.3	-	0	1138					NR_026899.1																						GAAATTTCTCCTTGAGAGTTA	0.358000													3	10					0	0	0.00024832	0	0
ZNF830	91603	broad.mit.edu	37	17	33289449	33289449	+	Silent	SNP	C	C	T	rs143227754	byFrequency	TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr17:33289449C>T	ENST00000361952.3	+	1	901	c.864C>T	c.(862-864)tcC>tcT	p.S288S		NM_052857.3	NP_443089.3	Q96NB3	ZN830_HUMAN	zinc finger protein 830	288					cell division|mitosis	cytoplasm|nucleus	metal ion binding			breast(1)|cervix(1)|endometrium(2)|large_intestine(1)|liver(2)|lung(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		Ovarian(249;0.17)				ACACTATTTCCGAAGCCATAG	0.498000													5	47					0	0	0.000602214	0	0
SLC35F1	222553	broad.mit.edu	37	6	118475630	118475630	+	Silent	SNP	C	C	T			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr6:118475630C>T	ENST00000360388.4	+	2	397	c.196C>T	c.(196-198)Cta>Tta	p.L66L		NM_001029858.3	NP_001025029.2	Q5T1Q4	S35F1_HUMAN	solute carrier family 35, member F1	66					transport	integral to membrane				breast(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(226;0.217)		CTCTGTGGCCCTAGGCCAGGT	0.418000													18	60					0	0	0.000958276	0	0
GAB3	139716	broad.mit.edu	37	X	153925439	153925439	+	Silent	SNP	A	A	G			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chrX:153925439A>G	ENST00000369575.3	-	7	1423	c.1392T>C	c.(1390-1392)caT>caC	p.H464H	GAB3_ENST00000496390.1_5'UTR|GAB3_ENST00000424127.2_Silent_p.H465H	NM_001081573.1|NM_080612.2	NP_001075042.1|NP_542179.1	Q8WWW8	GAB3_HUMAN	GRB2-associated binding protein 3	464										NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)	25	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|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)					TAAGAGATGCATGTTCCCGGA	0.532000													18	25					0	0	0.00121646	0	0
SLC4A4	8671	broad.mit.edu	37	4	72425842	72425842	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr4:72425842G>A	ENST00000340595.3	+	20	3034	c.2838G>A	c.(2836-2838)atG>atA	p.M946I	SLC4A4_ENST00000425175.1_Missense_Mutation_p.M990I|SLC4A4_ENST00000351898.6_Missense_Mutation_p.M906I|SLC4A4_ENST00000264485.5_Missense_Mutation_p.M990I	NM_003759.3	NP_003750.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	990						basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)			GAAAAGGCATGGACTACCTCT	0.403000													8	75					0	0	0.000978159	0	0
OR5A1	219982	broad.mit.edu	37	11	59211055	59211055	+	Silent	SNP	C	C	T			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr11:59211055C>T	ENST00000302030.2	+	1	439	c.414C>T	c.(412-414)atC>atT	p.I138I		NM_001004728.1	NP_001004728.1	Q8NGJ0	OR5A1_HUMAN	olfactory receptor, family 5, subfamily A, member 1	138					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	28						ACCCCACTATCATGACCCAGG	0.542000													14	127					0	0	0.00316338	0	0
CACNB3	784	broad.mit.edu	37	12	49219238	49219238	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr12:49219238G>A	ENST00000301050.2	+	8	794	c.595G>A	c.(595-597)Gct>Act	p.A199T	CACNB3_ENST00000547392.1_Missense_Mutation_p.A172T|CACNB3_ENST00000547230.1_Missense_Mutation_p.A158T|CACNB3_ENST00000536187.2_Missense_Mutation_p.A198T|CACNB3_ENST00000540990.1_Missense_Mutation_p.A186T	NM_000725.3	NP_000716.2	P54284	CACB3_HUMAN	calcium channel, voltage-dependent, beta 3 subunit	199					axon guidance|membrane depolarization|synaptic transmission	cytosol|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			autonomic_ganglia(1)|breast(1)|large_intestine(5)|lung(4)|prostate(1)	12					Verapamil(DB00661)	GATGCAGAAGGCTCTCTTCGA	0.562000													10	42					0	0	0.00185496	0	0
CLCC1	23155	broad.mit.edu	37	1	109477407	109477407	+	Frame_Shift_Del	DEL	T	T	-	rs150759040	by1000genomes	TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr1:109477407delT	ENST00000369971.2	-	11	1670	c.1541delA	c.(1540-1542)agfs	p.K514fs	CLCC1_ENST00000369976.1_Intron|CLCC1_ENST00000369968.2_Frame_Shift_Del_p.K329fs|CLCC1_ENST00000369970.3_Frame_Shift_Del_p.K464fs|CLCC1_ENST00000369969.2_Frame_Shift_Del_p.K393fs|CLCC1_ENST00000348264.2_Frame_Shift_Del_p.K329fs|CLCC1_ENST00000302500.4_Frame_Shift_Del_p.K393fs|AKNAD1_ENST00000357393.4_Intron|CLCC1_ENST00000482889.1_Intron|CLCC1_ENST00000356970.2_Frame_Shift_Del_p.K514fs|CLCC1_ENST00000415331.1_Frame_Shift_Del_p.K464fs	NM_001048210.1	NP_001041675.1	Q96S66	CLCC1_HUMAN	chloride channel CLIC-like 1	514						endoplasmic reticulum|Golgi apparatus|integral to membrane|nucleus				autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|liver(1)|skin(1)	14		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.231)		GAGCTGGGCCTTTTCCGCTGC	0.597													7	385	---	---	---	---					
EPPK1	83481	broad.mit.edu	37	8	144943831	144943831	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr8:144943831delG	ENST00000525985.1	-	2	3662	c.3591delC	c.(3589-3591)ccfs	p.P1197fs				P58107	EPIPL_HUMAN	epiplakin 1	1197						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CCCGTGGGCCGGGCACCATGA	0.682													2	4	---	---	---	---					
ATRX	546	broad.mit.edu	37	X	76874353	76874354	+	Frame_Shift_Ins	INS	-	-	CACA			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chrX:76874353_76874354insCACA	ENST00000373344.5	-	21	5582_5583	c.5368_5369insTGTG	c.(5368-5370)agafs	p.R1790fs	ATRX_ENST00000395603.3_Frame_Shift_Ins_p.R1752fs|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1790					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	GGTAGAATCTGCACACTGACCA	0.342			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						18	52	---	---	---	---